BRCA1 BRCA1 DNA repair associated

Annotation transcript: NM_007294.4

6473 unique variant annotations were identified in 2918 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
17-41196363-C-G c.*1332G>C - 3-UTRSNV 23/23 - 1
17-41196363-C-T c.*1332G>A - 3-UTRSNV 23/23 - 1
17-41196368-C-T c.*1327G>A - 3-UTRSNV 23/23 - 1
17-41196372-T-C c.*1323A>G - 3-UTRSNV 23/23 - 1
17-41196403-A-G c.*1292T>C - 3-UTRSNV 23/23 - 1
17-41196408-G-A c.*1287C>T - 3-UTRSNV 23/23 - 23
17-41196582-C-T c.*1113G>A - 3-UTRSNV 23/23 - 2
17-41196625-G-C c.*1070C>G - 3-UTRSNV 23/23 - 1
17-41196914-G-A c.*781C>T - 3-UTRSNV 23/23 - 1
17-41196945-T-C c.*750A>G - 3-UTRSNV 23/23 - 2
17-41197113-G-A c.*582C>T - 3-UTRSNV 23/23 - 1
17-41197274-C-A c.*421G>T - 3-UTRSNV 23/23 - 31
17-41197467-T-C c.*228A>G - 3-UTRSNV 23/23 - 1
17-41197610-T-C c.*85A>G - 3-UTRSNV 23/23 - 1
17-41197637-G-A c.*58C>T - 3-UTRSNV 23/23 - 1
17-41197637-G-T c.*58C>A - 3-UTRSNV 23/23 - 1
17-41197659-G-A c.*36C>T - 3-UTRSNV 23/23 - 5
17-41197659-G-C c.*36C>G - 3-UTRSNV 23/23 - 5
17-41197702-T-A c.5585A>T p.H1862L Missense 23/23 - 3
17-41197702-T-C c.5585A>G p.H1862R Missense 23/23 - 1
17-41197704-G-GA c.5582_5583insT p.H1862Pfs*18 Frameshift 23/23 - 1
17-41197705-C-T c.5582G>A p.S1861N Missense 23/23 - 1
17-41197707-G-T c.5580C>A p.H1860Q Missense 23/23 - 1
17-41197707-G-C c.5580C>G p.H1860Q Missense 23/23 - 1
17-41197706-TGTGG-T c.5577_5580del p.H1860Afs*61 Frameshift 23/23 - 3
17-41197708-T-G c.5579A>C p.H1860P Missense 23/23 - 1
17-41197711-GG-CC c.5575_5576inv p.P1859G Missense 23/23 - 1
17-41197711-G-C c.5576C>G p.P1859R Missense 23/23 - 7
17-41197708-T-TG c.5578dup p.H1860Pfs*20 Frameshift 23/23 - 2
17-41197707-GTGGGGGATC-G c.5571_5579del p.Q1857_P1859del InFrameDeletion 23/23 - 1
17-41197714-A-G c.5573T>C p.I1858T Missense 23/23 - 1
17-41197715-T-G c.5572A>C p.I1858L Missense 23/23 - 6
17-41197714-ATC-A c.5571_5572del p.Q1857Hfs*22 Frameshift 23/23 - 1
17-41197716-C-A c.5571G>T p.Q1857H Missense 23/23 - 3
17-41197716-C-G c.5571G>C p.Q1857H Missense 23/23 - 3
17-41197716-C-T c.5571G>A p.Q1857= Synonymous 23/23 - 1
17-41197718-G-A c.5569C>T p.Q1857* Nonsense 23/23 - 1
17-41197719-GGG-TTA c.5566_5568delinsTAA p.P1856* Nonsense 23/23 - 1
17-41197720-GG-CC c.5566_5567inv p.P1856G Missense 23/23 - 1
17-41197721-G-A c.5566C>T p.P1856S Missense 23/23 - 5
17-41197722-T-C c.5565A>G p.I1855M Missense 23/23 - 1
17-41197723-A-G c.5564T>C p.I1855T Missense 23/23 - 1
17-41197723-A-C c.5564T>G p.I1855R Missense 23/23 - 1
17-41197723-AT-TA c.5563_5564delinsTA p.I1855* Nonsense 23/23 - 1
17-41197724-T-G c.5563A>C p.I1855L Missense 23/23 - 1
17-41197724-T-A c.5563A>T p.I1855L Missense 23/23 - 1
17-41197724-T-C c.5563A>G p.I1855V Missense 23/23 - 1
17-41197724-T-TC c.5562dup p.I1855Dfs*25 Frameshift 23/23 - 1
17-41197726-A-G c.5561T>C p.L1854P Missense 23/23 - 5
17-41197726-A-T c.5561T>A p.L1854Q Missense 23/23 - 1
17-41197726-A-C c.5561T>G p.L1854R Missense 23/23 - 1
17-41197727-G-T c.5560C>A p.L1854M Missense 23/23 - 1
17-41197727-G-C c.5560C>G p.L1854V Missense 23/23 - 1
17-41197728-G-T c.5559C>A p.Y1853* Nonsense 23/23 - 28
17-41197728-G-C c.5559C>G p.Y1853* Nonsense 23/23 - 12
17-41197729-T-C c.5558A>G p.Y1853C Missense 23/23 - 11
17-41197728-G-GT c.5558dup p.Y1853* Nonsense 23/23 - 3
17-41197729-T-G c.5558A>C p.Y1853S Missense 23/23 - 2
17-41197729-T-A c.5558A>T p.Y1853F Missense 23/23 - 1
17-41197730-A-T c.5557T>A p.Y1853N Missense 23/23 - 2
17-41197730-A-G c.5557T>C p.Y1853H Missense 23/23 - 1
17-41197730-A-C c.5557T>G p.Y1853D Missense 23/23 - 2
17-41197732-G-C c.5555C>G p.T1852S Missense 23/23 - 1
17-41197732-G-T c.5555C>A p.T1852N Missense 23/23 - 1
17-41197732-G-A c.5555C>T p.T1852I Missense 23/23 - 3
17-41197733-T-G c.5554A>C p.T1852P Missense 23/23 - 1
17-41197733-T-C c.5554A>G p.T1852A Missense 23/23 - 1
17-41197733-T-A c.5554A>T p.T1852S Missense 23/23 - 1
17-41197731-GGT-G c.5554_5555del p.T1852Lfs*27 Frameshift 23/23 - 1
17-41197734-G-T c.5553C>A p.D1851E Missense 23/23 - 5
17-41197734-G-C c.5553C>G p.D1851E Missense 23/23 - 3
17-41197734-G-A c.5553C>T p.D1851= Synonymous 23/23 - 1
17-41197735-T-G c.5552A>C p.D1851A Missense 23/23 - 1
17-41197735-T-C c.5552A>G p.D1851G Missense 23/23 - 1
17-41197735-T-A c.5552A>T p.D1851V Missense 23/23 - 1
17-41197736-C-T c.5551G>A p.D1851N Missense 23/23 - 1
17-41197736-C-G c.5551G>C p.D1851H Missense 23/23 - 1
17-41197736-C-A c.5551G>T p.D1851Y Missense 23/23 - 1
17-41197738-A-T c.5549T>A p.L1850Q Missense 23/23 - 1
17-41197738-A-G c.5549T>C p.L1850P Missense 23/23 - 1
17-41197738-A-C c.5549T>G p.L1850R Missense 23/23 - 1
17-41197739-G-T c.5548C>A p.L1850M Missense 23/23 - 1
17-41197739-G-C c.5548C>G p.L1850V Missense 23/23 - 1
17-41197740-C-G c.5547G>C p.E1849D Missense 23/23 - 1
17-41197740-C-A c.5547G>T p.E1849D Missense 23/23 - 1
17-41197741-T-C c.5546A>G p.E1849G Missense 23/23 - 1
17-41197742-C-T c.5545G>A p.E1849K Missense 23/23 - 2
17-41197742-C-G c.5545G>C p.E1849Q Missense 23/23 - 1
17-41197742-C-A c.5545G>T p.E1849* Nonsense 23/23 - 1
17-41197743-C-G c.5544G>C p.Q1848H Missense 23/23 - 1
17-41197744-T-G c.5543A>C p.Q1848P Missense 23/23 - 1
17-41197744-T-C c.5543A>G p.Q1848R Missense 23/23 - 1
17-41197744-T-A c.5543A>T p.Q1848L Missense 23/23 - 1
17-41197745-G-A c.5542C>T p.Q1848* Nonsense 23/23 - 1
17-41197745-G-T c.5542C>A p.Q1848K Missense 23/23 - 1
17-41197745-G-C c.5542C>G p.Q1848E Missense 23/23 - 1
17-41197746-G-C c.5541C>G p.C1847W Missense 23/23 - 2
17-41197747-C-A c.5540G>T p.C1847F Missense 23/23 - 3
17-41197747-C-G c.5540G>C p.C1847S Missense 23/23 - 1
17-41197747-C-T c.5540G>A p.C1847Y Missense 23/23 - 1
17-41197747-GCACTGGTA-G c.5533_5540del p.Y1845Pfs*32 Frameshift 23/23 - 2
17-41197747-C-CCAGTGCCAGGACAGCAGG c.5539_5540insCCTGCTGTCCTGGCACTG p.C1847delinsSCCPGTG MultiAAMissense 23/23 - 1
17-41197748-A-T c.5539T>A p.C1847S Missense 23/23 - 1
17-41197748-A-G c.5539T>C p.C1847R Missense 23/23 - 1
17-41197748-A-C c.5539T>G p.C1847G Missense 23/23 - 1
17-41197749-C-G c.5538G>C p.Q1846H Missense 23/23 - 1
17-41197749-C-A c.5538G>T p.Q1846H Missense 23/23 - 1
17-41197750-T-G c.5537A>C p.Q1846P Missense 23/23 - 1
17-41197750-T-C c.5537A>G p.Q1846R Missense 23/23 - 1
17-41197750-T-A c.5537A>T p.Q1846L Missense 23/23 - 1
17-41197751-G-A c.5536C>T p.Q1846* Nonsense 23/23 - 3
17-41197751-G-T c.5536C>A p.Q1846K Missense 23/23 - 1
17-41197751-G-C c.5536C>G p.Q1846E Missense 23/23 - 1
17-41197753-GTA-G c.5533_5534del p.Y1845Pfs*34 Frameshift 23/23 - 1
17-41197753-T-G c.5534A>C p.Y1845S Missense 23/23 - 1
17-41197753-T-C c.5534A>G p.Y1845C Missense 23/23 - 1
17-41197753-T-A c.5534A>T p.Y1845F Missense 23/23 - 1
17-41197753-GT-G c.5534del p.Y1845Sfs*10 Frameshift 23/23 - 1
17-41197754-A-T c.5533T>A p.Y1845N Missense 23/23 - 1
17-41197754-A-G c.5533T>C p.Y1845H Missense 23/23 - 1
17-41197756-A-C c.5531T>G p.L1844R Missense 23/23 - 7
17-41197756-A-G c.5531T>C p.L1844P Missense 23/23 - 7
17-41197756-A-T c.5531T>A p.L1844H Missense 23/23 - 1
17-41197757-AG-A c.5530del p.L1844Sfs*11 Frameshift 23/23 - 4
17-41197757-G-T c.5530C>A p.L1844I Missense 23/23 - 1
17-41197757-G-C c.5530C>G p.L1844V Missense 23/23 - 1
17-41197757-G-A c.5530C>T p.L1844F Missense 23/23 - 2
17-41197759-G-T c.5528C>A p.A1843E Missense 23/23 - 1
17-41197759-G-C c.5528C>G p.A1843G Missense 23/23 - 1
17-41197759-G-A c.5528C>T p.A1843V Missense 23/23 - 2
17-41197760-C-G c.5527G>C p.A1843P Missense 23/23 - 6
17-41197760-C-T c.5527G>A p.A1843T Missense 23/23 - 3
17-41197760-C-A c.5527G>T p.A1843S Missense 23/23 - 1
17-41197760-C-CT c.5526dup p.A1843Sfs*37 Frameshift 23/23 - 1
17-41197761-T-G c.5526A>C p.V1842= Synonymous 23/23 - 1
17-41197761-T-C c.5526A>G p.V1842= Synonymous 23/23 - 1
17-41197761-T-A c.5526A>T p.V1842= Synonymous 23/23 - 1
17-41197762-A-T c.5525T>A p.V1842E Missense 23/23 - 1
17-41197762-A-G c.5525T>C p.V1842A Missense 23/23 - 1
17-41197762-A-C c.5525T>G p.V1842G Missense 23/23 - 1
17-41197763-C-T c.5524G>A p.V1842I Missense 23/23 - 1
17-41197763-C-G c.5524G>C p.V1842L Missense 23/23 - 1
17-41197763-C-A c.5524G>T p.V1842L Missense 23/23 - 1
17-41197764-A-C c.5523T>G p.S1841R Missense 23/23 - 4
17-41197764-A-T c.5523T>A p.S1841R Missense 23/23 - 4
17-41197766-T-G c.5521A>C p.S1841R Missense 23/23 - 6
17-41197764-ACT-TCA c.5521_5523delinsTGA p.S1841* Nonsense 23/23 - 1
17-41197765-CT-GC c.5521_5522delinsGC p.S1841A Missense 23/23 - 1
17-41197765-C-T c.5522G>A p.S1841N Missense 23/23 - 7
17-41197765-CT-AC c.5521_5522delinsGT p.S1841V Missense 23/23 - 1
17-41197765-AC-A c.5522del p.S1841Mfs*2 Frameshift 23/23 - 1
17-41197765-C-G c.5522G>C p.S1841T Missense 23/23 - 3
17-41197765-C-A c.5522G>T p.S1841I Missense 23/23 - 1
17-41197766-CT-C c.5521del p.S1841Vfs*2 Frameshift 23/23 - 8
17-41197766-T-A c.5521A>T p.S1841C Missense 23/23 - 1
17-41197762-ACACTGTCCAACACC-A c.5511_5524del p.W1837Cfs*38 Frameshift 23/23 - 1
17-41197767-G-C c.5520C>G p.D1840E Missense 23/23 - 1
17-41197768-T-G c.5519A>C p.D1840A Missense 23/23 - 1
17-41197768-T-C c.5519A>G p.D1840G Missense 23/23 - 1
17-41197768-T-A c.5519A>T p.D1840V Missense 23/23 - 1
17-41197768-TC-GT c.5518_5519delinsAC p.D1840T Missense 23/23 - 1
17-41197769-C-T c.5518G>A p.D1840N Missense 23/23 - 2
17-41197769-C-G c.5518G>C p.D1840H Missense 23/23 - 1
17-41197770-C-G c.5517G>C p.L1839F Missense 23/23 - 1
17-41197770-C-A c.5517G>T p.L1839F Missense 23/23 - 1
17-41197771-A-G c.5516T>C p.L1839S Missense 23/23 - 8
17-41197772-A-C c.5515T>G p.L1839V Missense 23/23 - 1
17-41197772-AACACCCACTCTCG-A c.5503_5515del p.R1835Wfs*4 Frameshift 23/23 - 1
17-41197773-C-A c.5514G>T p.V1838= Synonymous 23/23 - 1
17-41197774-A-C c.5513T>G p.V1838G Missense 23/23 - 4
17-41197774-A-T c.5513T>A p.V1838E Missense 23/23 - 14
17-41197774-A-G c.5513T>C p.V1838A Missense 23/23 - 1
17-41197775-C-T c.5512G>A p.V1838M Missense 23/23 - 1
17-41197775-C-G c.5512G>C p.V1838L Missense 23/23 - 1
17-41197775-C-A c.5512G>T p.V1838L Missense 23/23 - 1
17-41197776-C-A c.5511G>T p.W1837C Missense 23/23 - 8
17-41197776-C-G c.5511G>C p.W1837C Missense 23/23 - 8
17-41197777-C-T c.5510G>A p.W1837* Nonsense 23/23 - 5
17-41197776-C-T c.5511G>A p.W1837* Nonsense 23/23 - 6
17-41197777-C-G c.5510G>C p.W1837S Missense 23/23 - 2
17-41197777-C-A c.5510G>T p.W1837L Missense 23/23 - 1
17-41197774-A-AC c.5512dup p.V1838Gfs*42 Frameshift 23/23 - 1
17-41197778-A-T c.5509T>A p.W1837R Missense 23/23 - 8
17-41197778-A-G c.5509T>C p.W1837R Missense 23/23 - 25
17-41197778-A-C c.5509T>G p.W1837G Missense 23/23 - 10
17-41197776-CCA-C c.5509_5510del p.W1837Gfs*42 Frameshift 23/23 - 1
17-41197779-C-G c.5508G>C p.E1836D Missense 23/23 - 2
17-41197779-C-A c.5508G>T p.E1836D Missense 23/23 - 1
17-41197780-T-G c.5507A>C p.E1836A Missense 23/23 - 1
17-41197780-T-C c.5507A>G p.E1836G Missense 23/23 - 2
17-41197780-T-A c.5507A>T p.E1836V Missense 23/23 - 1
17-41197781-C-T c.5506G>A p.E1836K Missense 23/23 - 10
17-41197781-CTCGGGTCACC-T c.5496_5506delinsA p.V1833Sfs*7 Frameshift 23/23 - 9
17-41197781-C-G c.5506G>C p.E1836Q Missense 23/23 - 2
17-41197782-TCG-CCA c.5503_5505delinsTGG p.R1835W Missense 23/23 - 1
17-41197783-C-G c.5504G>C p.R1835P Missense 23/23 - 6
17-41197783-C-T c.5504G>A p.R1835Q Missense 23/23 - 14
17-41197784-G-A c.5503C>T p.R1835* Nonsense 23/23 - 47
17-41197784-G-T c.5503C>A p.R1835= Synonymous 23/23 - 1
17-41197782-T-G c.5505A>C p.R1835= Synonymous 23/23 - 1
17-41197782-T-C c.5505A>G p.R1835= Synonymous 23/23 - 1
17-41197782-T-A c.5505A>T p.R1835= Synonymous 23/23 - 1
17-41197785-GG-CA c.5501_5502delinsTG p.T1834M Missense 23/23 - 1
17-41197785-G-A c.5502C>T p.T1834= Synonymous 23/23 - 1
17-41197786-G-A c.5501C>T p.T1834I Missense 23/23 - 2
17-41197786-G-C c.5501C>G p.T1834S Missense 23/23 - 1
17-41197786-G-T c.5501C>A p.T1834N Missense 23/23 - 1
17-41197786-GT-AG c.5500_5501delinsCT p.T1834L Missense 23/23 - 1
17-41197783-CG-C c.5503del p.R1835Efs*8 Frameshift 23/23 - 1
17-41197787-T-G c.5500A>C p.T1834P Missense 23/23 - 1
17-41197787-T-C c.5500A>G p.T1834A Missense 23/23 - 2
17-41197787-T-A c.5500A>T p.T1834S Missense 23/23 - 1
17-41197789-A-T c.5498T>A p.V1833E Missense 23/23 - 3
17-41197789-A-G c.5498T>C p.V1833A Missense 23/23 - 1
17-41197790-C-T c.5497G>A p.V1833M Missense 23/23 - 17
17-41197792-A-C c.5495T>G p.V1832G Missense 23/23 - 2
17-41197793-C-G c.5494G>C p.V1832L Missense 23/23 - 1
17-41197795-G-T c.5492C>A p.P1831H Missense 23/23 - 1
17-41197795-G-C c.5492C>G p.P1831R Missense 23/23 - 1
17-41197795-G-A c.5492C>T p.P1831L Missense 23/23 - 2
17-41197796-G-T c.5491C>A p.P1831T Missense 23/23 - 1
17-41197796-G-C c.5491C>G p.P1831A Missense 23/23 - 1
17-41197796-G-A c.5491C>T p.P1831S Missense 23/23 - 1
17-41197794-AG-A c.5492del p.P1831Lfs*3 Frameshift 23/23 - 2
17-41197797-GT-G c.5490del p.P1831Lfs*3 Frameshift 23/23 - 1
17-41197798-G-A c.5489C>T p.A1830V Missense 23/23 - 1
17-41197799-C-T c.5488G>A p.A1830T Missense 23/23 - 5
17-41197799-C-G c.5488G>C p.A1830P Missense 23/23 - 1
17-41197799-C-A c.5488G>T p.A1830S Missense 23/23 - 1
17-41197800-C-G c.5487G>C p.E1829D Missense 23/23 - 1
17-41197800-C-A c.5487G>T p.E1829D Missense 23/23 - 1
17-41197801-T-G c.5486A>C p.E1829A Missense 23/23 - 1
17-41197801-T-C c.5486A>G p.E1829G Missense 23/23 - 1
17-41197801-T-A c.5486A>T p.E1829V Missense 23/23 - 1
17-41197802-C-G c.5485G>C p.E1829Q Missense 23/23 - 1
17-41197802-C-A c.5485G>T p.E1829* Nonsense 23/23 - 1
17-41197801-T-TC c.5485dup p.E1829Gfs*51 Frameshift 23/23 - 2
17-41197802-C-T c.5485G>A p.E1829K Missense 23/23 - 1
17-41197803-A-C c.5484T>G p.C1828W Missense 23/23 - 1
17-41197804-C-G c.5483G>C p.C1828S Missense 23/23 - 1
17-41197804-C-T c.5483G>A p.C1828Y Missense 23/23 - 1
17-41197804-C-A c.5483G>T p.C1828F Missense 23/23 - 1
17-41197804-AC-A c.5483del p.C1828Lfs*6 Frameshift 23/23 - 1
17-41197805-A-T c.5482T>A p.C1828S Missense 23/23 - 1
17-41197805-A-C c.5482T>G p.C1828G Missense 23/23 - 1
17-41197806-C-T c.5481G>A p.M1827I Missense 23/23 - 2
17-41197806-C-G c.5481G>C p.M1827I Missense 23/23 - 2
17-41197806-C-A c.5481G>T p.M1827I Missense 23/23 - 2
17-41197807-A-T c.5480T>A p.M1827K Missense 23/23 - 1
17-41197807-A-G c.5480T>C p.M1827T Missense 23/23 - 2
17-41197807-A-C c.5480T>G p.M1827R Missense 23/23 - 1
17-41197808-T-C c.5479A>G p.M1827V Missense 23/23 - 3
17-41197808-T-G c.5479A>C p.M1827L Missense 23/23 - 1
17-41197808-T-A c.5479A>T p.M1827L Missense 23/23 - 1
17-41197809-C-G c.5478G>C p.Q1826H Missense 23/23 - 5
17-41197809-C-A c.5478G>T p.Q1826H Missense 23/23 - 5
17-41197810-T-G c.5477A>C p.Q1826P Missense 23/23 - 1
17-41197810-T-C c.5477A>G p.Q1826R Missense 23/23 - 1
17-41197810-T-A c.5477A>T p.Q1826L Missense 23/23 - 2
17-41197811-G-T c.5476C>A p.Q1826K Missense 23/23 - 1
17-41197811-G-C c.5476C>G p.Q1826E Missense 23/23 - 1
17-41197809-CTGCCCAAT-C c.5470_5477del p.I1824Dfs*3 Frameshift 23/23 22/22 33
17-41197813-C-T c.5474G>A p.G1825E Missense 23/23 - 1
17-41197813-C-G c.5474G>C p.G1825A Missense 23/23 - 1
17-41197813-C-A c.5474G>T p.G1825V Missense 23/23 - 1
17-41197814-C-T c.5473G>A p.G1825R Missense 23/23 - 1
17-41197814-C-G c.5473G>C p.G1825R Missense 23/23 - 1
17-41197814-C-A c.5473G>T p.G1825W Missense 23/23 - 1
17-41197815-A-C c.5472T>G p.I1824M Missense 23/23 - 1
17-41197816-AT-TC c.5470_5471delinsGA p.I1824D Missense 23/23 - 2
17-41197816-A-T c.5471T>A p.I1824N Missense 23/23 - 2
17-41197816-A-G c.5471T>C p.I1824T Missense 23/23 - 1
17-41197816-A-C c.5471T>G p.I1824S Missense 23/23 - 1
17-41197817-T-TC c.5469_5470insG p.I1824Dfs*6 SpliceAcceptorInsertion 23/23 - 4
17-41197817-T-TA c.5469_5470insT p.I1824Yfs*6 SpliceAcceptorInsertion 23/23 - 2
17-41197817-T-TG c.5469_5470insC p.I1824Hfs*6 SpliceAcceptorInsertion 23/23 - 2
17-41197817-T-G c.5470A>C p.I1824L Missense 23/23 - 1
17-41197817-T-C c.5470A>G p.I1824V Missense 23/23 - 2
17-41197817-T-A c.5470A>T p.I1824F Missense 23/23 - 1
17-41197820-C-A c.5468-1G>T - IntronicSNV - 22/22 3
17-41197820-C-T c.5468-1G>A - IntronicSNV - 22/22 3
17-41197829-G-A c.5468-10C>T - IntronicSNV - 22/22 1
17-41197829-G-T c.5468-10C>A - IntronicSNV - 22/22 1
17-41199638-C-G c.5467+22G>C - IntronicSNV - 22/22 1
17-41199638-C-CA c.5467+21dup - IntronicInsertion - 22/22 1
17-41199655-C-G c.5467+5G>C - IntronicSNV - 22/22 7
17-41199655-C-A c.5467+5G>T - IntronicSNV - 22/22 1
17-41199657-T-G c.5467+3A>C - IntronicSNV - 22/22 1
17-41199658-A-C c.5467+2T>G - IntronicSNV - 22/22 1
17-41199658-A-G c.5467+2T>C - IntronicSNV - 22/22 1
17-41199659-C-T c.5467+1G>A - IntronicSNV - 22/22 13
17-41199660-C-T c.5467G>A p.A1823T Missense 22/23 - 9
17-41199661-CATG-C c.5464_5466del p.H1822del InFrameDeletion 22/23 - 1
17-41199659-CCATGGAAGCCATTGTCCTCTGTCCAGGCATCTGGCTGCACAACCACAATTGGGTGGACA-C c.5409_5467del p.V1804Nfs*6 Unclassified 22/23 - 1
17-41199662-T-G c.5465A>C p.H1822P Missense 22/23 - 1
17-41199662-T-C c.5465A>G p.H1822R Missense 22/23 - 1
17-41199662-T-A c.5465A>T p.H1822L Missense 22/23 - 2
17-41199663-G-T c.5464C>A p.H1822N Missense 22/23 - 1
17-41199663-G-C c.5464C>G p.H1822D Missense 22/23 - 1
17-41199663-G-A c.5464C>T p.H1822Y Missense 22/23 - 1
17-41199663-G-GA c.5463_5464insT p.H1822Sfs*8 Frameshift 22/23 - 3
17-41199664-G-T c.5463C>A p.F1821L Missense 22/23 - 1
17-41199664-G-C c.5463C>G p.F1821L Missense 22/23 - 1
17-41199665-A-G c.5462T>C p.F1821S Missense 22/23 - 2
17-41199665-A-T c.5462T>A p.F1821Y Missense 22/23 - 1
17-41199665-A-C c.5462T>G p.F1821C Missense 22/23 - 1
17-41199666-A-T c.5461T>A p.F1821I Missense 22/23 - 1
17-41199666-A-G c.5461T>C p.F1821L Missense 22/23 - 1
17-41199666-A-C c.5461T>G p.F1821V Missense 22/23 - 1
17-41199668-C-T c.5459G>A p.G1820D Missense 22/23 - 1
17-41199668-C-A c.5459G>T p.G1820V Missense 22/23 - 1
17-41199669-C-T c.5458G>A p.G1820S Missense 22/23 - 2
17-41199669-C-G c.5458G>C p.G1820R Missense 22/23 - 1
17-41199669-C-A c.5458G>T p.G1820C Missense 22/23 - 1
17-41199670-A-T c.5457T>A p.N1819K Missense 22/23 - 1
17-41199670-A-C c.5457T>G p.N1819K Missense 22/23 - 1
17-41199671-T-G c.5456A>C p.N1819T Missense 22/23 - 1
17-41199671-T-C c.5456A>G p.N1819S Missense 22/23 - 3
17-41199671-T-A c.5456A>T p.N1819I Missense 22/23 - 1
17-41199672-T-G c.5455A>C p.N1819H Missense 22/23 - 1
17-41199672-T-C c.5455A>G p.N1819D Missense 22/23 - 2
17-41199672-T-A c.5455A>T p.N1819Y Missense 22/23 - 2
17-41199673-G-T c.5454C>A p.D1818E Missense 22/23 - 1
17-41199673-G-C c.5454C>G p.D1818E Missense 22/23 - 1
17-41199673-TG-T c.5454del p.D1818Efs*16 Frameshift 22/23 - 1
17-41199674-T-C c.5453A>G p.D1818G Missense 22/23 - 8
17-41199674-T-G c.5453A>C p.D1818A Missense 22/23 - 1
17-41199674-T-A c.5453A>T p.D1818V Missense 22/23 - 1
17-41199675-C-T c.5452G>A p.D1818N Missense 22/23 - 3
17-41199675-C-G c.5452G>C p.D1818H Missense 22/23 - 1
17-41199675-C-A c.5452G>T p.D1818Y Missense 22/23 - 1
17-41199676-C-G c.5451G>C p.E1817D Missense 22/23 - 1
17-41199676-C-A c.5451G>T p.E1817D Missense 22/23 - 1
17-41199677-T-G c.5450A>C p.E1817A Missense 22/23 - 1
17-41199677-T-C c.5450A>G p.E1817G Missense 22/23 - 2
17-41199677-T-A c.5450A>T p.E1817V Missense 22/23 - 1
17-41199678-C-A c.5449G>T p.E1817* Nonsense 22/23 - 2
17-41199678-C-T c.5449G>A p.E1817K Missense 22/23 - 2
17-41199678-C-G c.5449G>C p.E1817Q Missense 22/23 - 1
17-41199680-G-T c.5447C>A p.T1816K Missense 22/23 - 1
17-41199680-G-C c.5447C>G p.T1816R Missense 22/23 - 1
17-41199680-G-A c.5447C>T p.T1816I Missense 22/23 - 1
17-41199681-T-G c.5446A>C p.T1816P Missense 22/23 - 1
17-41199681-T-C c.5446A>G p.T1816A Missense 22/23 - 1
17-41199681-T-A c.5446A>T p.T1816S Missense 22/23 - 1
17-41199682-C-T c.5445G>A p.W1815* Nonsense 22/23 - 22
17-41199682-C-G c.5445G>C p.W1815C Missense 22/23 - 1
17-41199682-C-A c.5445G>T p.W1815C Missense 22/23 - 1
17-41199683-C-T c.5444G>A p.W1815* Nonsense 22/23 - 23
17-41199683-C-G c.5444G>C p.W1815S Missense 22/23 - 3
17-41199683-C-A c.5444G>T p.W1815L Missense 22/23 - 1
17-41199683-CA-TT c.5443_5444delinsAA p.W1815K Missense 22/23 - 1
17-41199684-A-T c.5443T>A p.W1815R Missense 22/23 - 1
17-41199684-A-G c.5443T>C p.W1815R Missense 22/23 - 1
17-41199684-A-C c.5443T>G p.W1815G Missense 22/23 - 1
17-41199686-G-C c.5441C>G p.A1814G Missense 22/23 - 1
17-41199686-G-A c.5441C>T p.A1814V Missense 22/23 - 2
17-41199687-C-T c.5440G>A p.A1814T Missense 22/23 - 1
17-41199687-C-A c.5440G>T p.A1814S Missense 22/23 - 1
17-41199688-CA-C c.5439del p.D1813Efs*21 Frameshift 22/23 - 1
17-41199688-A-T c.5439T>A p.D1813E Missense 22/23 - 1
17-41199688-A-C c.5439T>G p.D1813E Missense 22/23 - 1
17-41199689-T-G c.5438A>C p.D1813A Missense 22/23 - 1
17-41199689-T-C c.5438A>G p.D1813G Missense 22/23 - 1
17-41199689-T-A c.5438A>T p.D1813V Missense 22/23 - 1
17-41199690-C-G c.5437G>C p.D1813H Missense 22/23 - 4
17-41199690-C-T c.5437G>A p.D1813N Missense 22/23 - 2
17-41199691-T-C c.5436A>G p.P1812= Synonymous 22/23 - 1
17-41199691-T-G c.5436A>C p.P1812= Synonymous 22/23 - 1
17-41199692-G-C c.5435C>G p.P1812R Missense 22/23 - 2
17-41199692-G-A c.5435C>T p.P1812L Missense 22/23 - 1
17-41199693-G-C c.5434C>G p.P1812A Missense 22/23 - 20
17-41199693-G-T c.5434C>A p.P1812T Missense 22/23 - 1
17-41199693-G-A c.5434C>T p.P1812S Missense 22/23 - 1
17-41199694-C-G c.5433G>C p.Q1811H Missense 22/23 - 1
17-41199694-C-A c.5433G>T p.Q1811H Missense 22/23 - 1
17-41199695-T-C c.5432A>G p.Q1811R Missense 22/23 - 5
17-41199695-TG-GT c.5431_5432delinsAC p.Q1811T Missense 22/23 - 2
17-41199695-T-G c.5432A>C p.Q1811P Missense 22/23 - 1
17-41199695-T-A c.5432A>T p.Q1811L Missense 22/23 - 1
17-41199696-G-A c.5431C>T p.Q1811* Nonsense 22/23 - 7
17-41199696-G-T c.5431C>A p.Q1811K Missense 22/23 - 3
17-41199696-G-C c.5431C>G p.Q1811E Missense 22/23 - 1
17-41199697-C-T c.5430G>A p.V1810= Synonymous 22/23 - 1
17-41199697-C-G c.5430G>C p.V1810= Synonymous 22/23 - 1
17-41199697-C-A c.5430G>T p.V1810= Synonymous 22/23 - 1
17-41199698-A-C c.5429T>G p.V1810G Missense 22/23 - 5
17-41199698-A-G c.5429T>C p.V1810A Missense 22/23 - 3
17-41199698-A-T c.5429T>A p.V1810E Missense 22/23 - 1
17-41199699-C-T c.5428G>A p.V1810M Missense 22/23 - 2
17-41199699-C-G c.5428G>C p.V1810L Missense 22/23 - 1
17-41199699-C-A c.5428G>T p.V1810L Missense 22/23 - 1
17-41199701-A-T c.5426T>A p.V1809D Missense 22/23 - 1
17-41199701-A-G c.5426T>C p.V1809A Missense 22/23 - 4
17-41199701-AC-CT c.5425_5426delinsAG p.V1809S Missense 22/23 - 1
17-41199702-C-A c.5425G>T p.V1809F Missense 22/23 - 9
17-41199702-C-T c.5425G>A p.V1809I Missense 22/23 - 1
17-41199696-GCACAAC-G c.5425_5430del p.V1809_V1810del InFrameDeletion 22/23 - 2
17-41199704-A-C c.5423T>G p.V1808G Missense 22/23 - 1
17-41199704-A-G c.5423T>C p.V1808A Missense 22/23 - 4
17-41199705-C-G c.5422G>C p.V1808L Missense 22/23 - 1
17-41199705-C-T c.5422G>A p.V1808M Missense 22/23 - 1
17-41199706-A-C c.5421T>G p.I1807M Missense 22/23 - 1
17-41199707-A-C c.5420T>G p.I1807S Missense 22/23 - 3
17-41199707-A-G c.5420T>C p.I1807T Missense 22/23 - 3
17-41199707-A-T c.5420T>A p.I1807N Missense 22/23 - 1
17-41199708-T-G c.5419A>C p.I1807L Missense 22/23 - 1
17-41199708-T-C c.5419A>G p.I1807V Missense 22/23 - 1
17-41199707-AT-A c.5419del p.I1807Lfs*27 Frameshift 22/23 - 2
17-41199710-G-T c.5417C>A p.P1806Q Missense 22/23 - 1
17-41199710-G-C c.5417C>G p.P1806R Missense 22/23 - 1
17-41199710-G-A c.5417C>T p.P1806L Missense 22/23 - 1
17-41199711-G-A c.5416C>T p.P1806S Missense 22/23 - 2
17-41199711-G-T c.5416C>A p.P1806T Missense 22/23 - 1
17-41199711-G-C c.5416C>G p.P1806A Missense 22/23 - 5
17-41199712-G-A c.5415C>T p.H1805= Synonymous 22/23 - 1
17-41199712-G-T c.5415C>A p.H1805Q Missense 22/23 - 1
17-41199712-G-C c.5415C>G p.H1805Q Missense 22/23 - 1
17-41199713-T-G c.5414A>C p.H1805P Missense 22/23 - 3
17-41199713-T-C c.5414A>G p.H1805R Missense 22/23 - 1
17-41199713-T-A c.5414A>T p.H1805L Missense 22/23 - 3
17-41199714-G-T c.5413C>A p.H1805N Missense 22/23 - 1
17-41199714-G-C c.5413C>G p.H1805D Missense 22/23 - 1
17-41199714-G-A c.5413C>T p.H1805Y Missense 22/23 - 1
17-41199716-A-T c.5411T>A p.V1804D Missense 22/23 - 19
17-41199716-A-G c.5411T>C p.V1804A Missense 22/23 - 4
17-41199716-A-C c.5411T>G p.V1804G Missense 22/23 - 2
17-41199717-C-T c.5410G>A p.V1804I Missense 22/23 - 2
17-41199717-C-G c.5410G>C p.V1804L Missense 22/23 - 1
17-41199717-C-A c.5410G>T p.V1804F Missense 22/23 - 1
17-41199719-C-G c.5408G>C p.G1803A Missense 22/23 - 7
17-41199720-C-A c.5407G>T p.G1803C Missense 22/23 - 1
17-41200107-C-T c.5407-387G>A - IntronicSNV - 21/22 1
17-41201105-T-A c.5406+33A>T - IntronicSNV - 21/22 1
17-41201129-A-G c.5406+9T>C - IntronicSNV - 21/22 1
17-41201130-A-G c.5406+8T>C - IntronicSNV - 21/22 3
17-41201131-T-C c.5406+7A>G - IntronicSNV - 21/22 2
17-41201133-C-T c.5406+5G>A - IntronicSNV - 21/22 1
17-41201133-C-G c.5406+5G>C - IntronicSNV - 21/22 1
17-41201134-T-C c.5406+4A>G - IntronicSNV - 21/22 1
17-41201135-T-A c.5406+3A>T - IntronicSNV - 21/22 1
17-41201134-TTAC-T c.5406+1_5406+3del - SpliceDonorDeletion 21/23 21/22 10
17-41201136-TA-T c.5406+2del - IntronicDeletion - 21/22 1
17-41201136-A-G c.5406+2T>C - IntronicSNV - 21/22 1
17-41201137-C-A c.5406+1G>T - IntronicSNV - 21/22 1
17-41201137-ACTGT-A c.5404_5406+1del - SpliceDonorDeletion 21/23 21/22 1
17-41201137-C-T c.5406+1G>A - IntronicSNV - 21/22 5
17-41201138-CTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCA-C c.5348_5406del p.M1783Rfs*27 InFrameDeletion 21/23 - 3
17-41201140-T-G c.5404A>C p.T1802P Missense 21/23 - 1
17-41201140-T-C c.5404A>G p.T1802A Missense 21/23 - 1
17-41201140-T-A c.5404A>T p.T1802S Missense 21/23 - 1
17-41201140-GT-G c.5404del p.T1802Qfs*32 Frameshift 21/23 - 1
17-41201142-C-T c.5402G>A p.G1801D Missense 21/23 - 1
17-41201142-C-G c.5402G>C p.G1801A Missense 21/23 - 1
17-41201142-C-A c.5402G>T p.G1801V Missense 21/23 - 1
17-41201143-C-T c.5401G>A p.G1801S Missense 21/23 - 1
17-41201143-C-G c.5401G>C p.G1801R Missense 21/23 - 1
17-41201143-C-A c.5401G>T p.G1801C Missense 21/23 - 2
17-41201145-A-T c.5399T>A p.L1800H Missense 21/23 - 1
17-41201145-A-G c.5399T>C p.L1800P Missense 21/23 - 1
17-41201145-A-C c.5399T>G p.L1800R Missense 21/23 - 1
17-41201146-G-T c.5398C>A p.L1800I Missense 21/23 - 1
17-41201146-G-C c.5398C>G p.L1800V Missense 21/23 - 1
17-41201146-G-A c.5398C>T p.L1800F Missense 21/23 - 3
17-41201145-AGG-A c.5397_5398del p.L1800Wfs*29 Frameshift 21/23 - 1
17-41201148-G-T c.5396C>A p.T1799N Missense 21/23 - 2
17-41201148-G-C c.5396C>G p.T1799S Missense 21/23 - 1
17-41201148-G-A c.5396C>T p.T1799I Missense 21/23 - 1
17-41201146-GGGT-G c.5395_5397del p.T1799del InFrameDeletion 21/23 - 1
17-41201149-T-C c.5395A>G p.T1799A Missense 21/23 - 9
17-41201149-T-G c.5395A>C p.T1799P Missense 21/23 - 1
17-41201149-T-A c.5395A>T p.T1799S Missense 21/23 - 1
17-41201150-G-T c.5394C>A p.F1798L Missense 21/23 - 1
17-41201150-G-C c.5394C>G p.F1798L Missense 21/23 - 1
17-41201151-A-T c.5393T>A p.F1798Y Missense 21/23 - 1
17-41201151-A-G c.5393T>C p.F1798S Missense 21/23 - 1
17-41201151-A-C c.5393T>G p.F1798C Missense 21/23 - 1
17-41201152-A-T c.5392T>A p.F1798I Missense 21/23 - 1
17-41201152-A-G c.5392T>C p.F1798L Missense 21/23 - 1
17-41201152-A-C c.5392T>G p.F1798V Missense 21/23 - 1
17-41201153-AT-A c.5391del p.F1798Sfs*36 Frameshift 21/23 - 1
17-41201154-G-T c.5390C>A p.S1797* Nonsense 21/23 - 1
17-41201154-G-A c.5390C>T p.S1797L Missense 21/23 - 3
17-41201155-A-T c.5389T>A p.S1797T Missense 21/23 - 1
17-41201155-A-G c.5389T>C p.S1797P Missense 21/23 - 1
17-41201155-A-C c.5389T>G p.S1797A Missense 21/23 - 1
17-41201157-G-T c.5387C>A p.S1796* Nonsense 21/23 - 4
17-41201156-T-TG c.5387dup p.S1797Ifs*33 Frameshift 21/23 - 1
17-41201157-G-A c.5387C>T p.S1796L Missense 21/23 - 1
17-41201158-A-T c.5386T>A p.S1796T Missense 21/23 - 1
17-41201158-A-G c.5386T>C p.S1796P Missense 21/23 - 1
17-41201158-A-C c.5386T>G p.S1796A Missense 21/23 - 1
17-41201158-A-AG c.5385_5386insC p.S1796Lfs*34 Frameshift 21/23 - 2
17-41201160-A-T c.5384T>A p.L1795H Missense 21/23 - 1
17-41201160-A-G c.5384T>C p.L1795P Missense 21/23 - 1
17-41201160-A-C c.5384T>G p.L1795R Missense 21/23 - 1
17-41201161-G-A c.5383C>T p.L1795F Missense 21/23 - 5
17-41201160-A-AG c.5383dup p.L1795Pfs*35 Frameshift 21/23 - 16
17-41201161-G-T c.5383C>A p.L1795I Missense 21/23 - 1
17-41201161-G-C c.5383C>G p.L1795V Missense 21/23 - 1
17-41201162-C-G c.5382G>C p.E1794D Missense 21/23 - 5
17-41201162-C-A c.5382G>T p.E1794D Missense 21/23 - 5
17-41201163-T-G c.5381A>C p.E1794A Missense 21/23 - 1
17-41201163-T-C c.5381A>G p.E1794G Missense 21/23 - 1
17-41201163-T-A c.5381A>T p.E1794V Missense 21/23 - 1
17-41201164-C-T c.5380G>A p.E1794K Missense 21/23 - 4
17-41201164-C-G c.5380G>C p.E1794Q Missense 21/23 - 1
17-41201165-C-G c.5379G>C p.K1793N Missense 21/23 - 1
17-41201163-TC-T c.5380del p.E1794Sfs*40 Frameshift 21/23 - 1
17-41201166-T-G c.5378A>C p.K1793T Missense 21/23 - 1
17-41201166-T-C c.5378A>G p.K1793R Missense 21/23 - 1
17-41201166-T-A c.5378A>T p.K1793M Missense 21/23 - 1
17-41201167-T-A c.5377A>T p.K1793* Nonsense 21/23 - 5
17-41201167-T-G c.5377A>C p.K1793Q Missense 21/23 - 1
17-41201167-T-C c.5377A>G p.K1793E Missense 21/23 - 1
17-41201169-A-G c.5375T>C p.V1792A Missense 21/23 - 2
17-41201169-A-C c.5375T>G p.V1792G Missense 21/23 - 1
17-41201170-C-T c.5374G>A p.V1792M Missense 21/23 - 2
17-41201170-C-G c.5374G>C p.V1792L Missense 21/23 - 1
17-41201170-C-A c.5374G>T p.V1792L Missense 21/23 - 1
17-41201172-A-T c.5372T>A p.V1791E Missense 21/23 - 1
17-41201172-A-G c.5372T>C p.V1791A Missense 21/23 - 1
17-41201172-A-C c.5372T>G p.V1791G Missense 21/23 - 1
17-41201173-C-T c.5371G>A p.V1791M Missense 21/23 - 1
17-41201173-C-G c.5371G>C p.V1791L Missense 21/23 - 2
17-41201173-C-A c.5371G>T p.V1791L Missense 21/23 - 3
17-41201175-G-T c.5369C>A p.S1790Y Missense 21/23 - 3
17-41201175-G-C c.5369C>G p.S1790C Missense 21/23 - 1
17-41201175-G-A c.5369C>T p.S1790F Missense 21/23 - 1
17-41201176-A-T c.5368T>A p.S1790T Missense 21/23 - 1
17-41201176-A-G c.5368T>C p.S1790P Missense 21/23 - 1
17-41201176-A-C c.5368T>G p.S1790A Missense 21/23 - 1
17-41201178-GC-T c.5365_5366delinsA p.A1789Ifs*4 Frameshift 21/23 - 1
17-41201177-A-AG c.5366dup p.S1790Ffs*40 Frameshift 21/23 - 1
17-41201178-G-T c.5366C>A p.A1789D Missense 21/23 - 1
17-41201178-G-C c.5366C>G p.A1789G Missense 21/23 - 1
17-41201178-G-A c.5366C>T p.A1789V Missense 21/23 - 1
17-41201179-C-T c.5365G>A p.A1789T Missense 21/23 - 10
17-41201179-C-G c.5365G>C p.A1789P Missense 21/23 - 2
17-41201179-C-A c.5365G>T p.A1789S Missense 21/23 - 4
17-41201180-ACC-GTCGCT c.5362_5364delinsAGCGAC p.G1788delinsSD MultiAAMissense 21/23 - 1
17-41201181-C-A c.5363G>T p.G1788V Missense 21/23 - 33
17-41201181-C-T c.5363G>A p.G1788D Missense 21/23 - 17
17-41201181-C-G c.5363G>C p.G1788A Missense 21/23 - 2
17-41201181-ACCAC-A c.5360_5363del p.C1787Lfs*5 Frameshift 21/23 - 1
17-41201182-C-T c.5362G>A p.G1788S Missense 21/23 - 2
17-41201182-C-G c.5362G>C p.G1788R Missense 21/23 - 1
17-41201182-C-A c.5362G>T p.G1788C Missense 21/23 - 1
17-41201183-A-C c.5361T>G p.C1787W Missense 21/23 - 1
17-41201184-C-T c.5360G>A p.C1787Y Missense 21/23 - 3
17-41201184-C-A c.5360G>T p.C1787F Missense 21/23 - 1
17-41201185-A-T c.5359T>A p.C1787S Missense 21/23 - 18
17-41201184-C-G c.5360G>C p.C1787S Missense 21/23 - 13
17-41201185-A-G c.5359T>C p.C1787R Missense 21/23 - 1
17-41201185-A-C c.5359T>G p.C1787G Missense 21/23 - 1
17-41201181-CCA-C c.5361_5362del p.C1787Wfs*42 Frameshift 21/23 - 1
17-41201186-C-A c.5358G>T p.L1786= Synonymous 21/23 - 1
17-41201186-C-T c.5358G>A p.L1786= Synonymous 21/23 - 1
17-41201186-C-G c.5358G>C p.L1786= Synonymous 21/23 - 1
17-41201188-G-A c.5356C>T p.L1786= Synonymous 21/23 - 1
17-41201187-A-G c.5357T>C p.L1786P Missense 21/23 - 6
17-41201187-A-T c.5357T>A p.L1786Q Missense 21/23 - 1
17-41201187-A-C c.5357T>G p.L1786R Missense 21/23 - 1
17-41201188-G-T c.5356C>A p.L1786M Missense 21/23 - 1
17-41201188-G-C c.5356C>G p.L1786V Missense 21/23 - 1
17-41201189-C-G c.5355G>C p.Q1785H Missense 21/23 - 6
17-41201189-C-A c.5355G>T p.Q1785H Missense 21/23 - 6
17-41201190-T-G c.5354A>C p.Q1785P Missense 21/23 - 1
17-41201190-T-C c.5354A>G p.Q1785R Missense 21/23 - 1
17-41201190-T-A c.5354A>T p.Q1785L Missense 21/23 - 1
17-41201191-G-A c.5353C>T p.Q1785* Nonsense 21/23 - 6
17-41201191-G-T c.5353C>A p.Q1785K Missense 21/23 - 1
17-41201191-G-C c.5353C>G p.Q1785E Missense 21/23 - 1
17-41201193-A-T c.5351T>A p.V1784E Missense 21/23 - 1
17-41201193-A-G c.5351T>C p.V1784A Missense 21/23 - 1
17-41201193-A-C c.5351T>G p.V1784G Missense 21/23 - 1
17-41201193-TA-T c.5351del p.V1784Dfs*9 Frameshift 21/23 - 1
17-41201194-C-T c.5350G>A p.V1784I Missense 21/23 - 1
17-41201194-C-G c.5350G>C p.V1784L Missense 21/23 - 1
17-41201194-C-A c.5350G>T p.V1784L Missense 21/23 - 1
17-41201195-C-T c.5349G>A p.M1783I Missense 21/23 - 4
17-41201195-C-G c.5349G>C p.M1783I Missense 21/23 - 3
17-41201195-C-A c.5349G>T p.M1783I Missense 21/23 - 3
17-41201196-A-G c.5348T>C p.M1783T Missense 21/23 - 16
17-41201196-A-T c.5348T>A p.M1783K Missense 21/23 - 1
17-41201196-A-C c.5348T>G p.M1783R Missense 21/23 - 1
17-41201197-T-G c.5347A>C p.M1783L Missense 21/23 - 7
17-41201197-T-C c.5347A>G p.M1783V Missense 21/23 - 3
17-41201197-T-A c.5347A>T p.M1783L Missense 21/23 - 3
17-41201198-C-T c.5346G>A p.W1782* Nonsense 21/23 - 16
17-41201198-C-G c.5346G>C p.W1782C Missense 21/23 - 1
17-41201198-C-A c.5346G>T p.W1782C Missense 21/23 - 1
17-41201199-C-G c.5345G>C p.W1782S Missense 21/23 - 1
17-41201199-C-A c.5345G>T p.W1782L Missense 21/23 - 1
17-41201199-C-T c.5345G>A p.W1782* Nonsense 21/23 - 4
17-41201200-A-T c.5344T>A p.W1782R Missense 21/23 - 1
17-41201200-A-G c.5344T>C p.W1782R Missense 21/23 - 1
17-41201200-A-C c.5344T>G p.W1782G Missense 21/23 - 1
17-41201201-T-G c.5343A>C p.E1781D Missense 21/23 - 1
17-41201201-T-A c.5343A>T p.E1781D Missense 21/23 - 1
17-41201202-T-G c.5342A>C p.E1781A Missense 21/23 - 1
17-41201202-T-A c.5342A>T p.E1781V Missense 21/23 - 1
17-41201203-C-A c.5341G>T p.E1781* Nonsense 21/23 - 1
17-41201203-C-T c.5341G>A p.E1781K Missense 21/23 - 2
17-41201203-C-G c.5341G>C p.E1781Q Missense 21/23 - 1
17-41201205-A-G c.5339T>C p.L1780P Missense 21/23 - 30
17-41201205-A-C c.5339T>G p.L1780R Missense 21/23 - 2
17-41201205-A-T c.5339T>A p.L1780Q Missense 21/23 - 1
17-41201206-G-T c.5338C>A p.L1780M Missense 21/23 - 1
17-41201206-G-C c.5338C>G p.L1780V Missense 21/23 - 1
17-41201207-T-G c.5337A>C p.Q1779H Missense 21/23 - 1
17-41201207-T-A c.5337A>T p.Q1779H Missense 21/23 - 1
17-41201208-T-G c.5336A>C p.Q1779P Missense 21/23 - 1
17-41201208-T-C c.5336A>G p.Q1779R Missense 21/23 - 1
17-41201208-T-A c.5336A>T p.Q1779L Missense 21/23 - 1
17-41201208-TTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAG-T c.5333-55_5336del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 21/23 20/22 1
17-41201209-G-GC c.5334_5335insG p.Q1779Afs*51 SpliceAcceptorInsertion 21/23 - 1
17-41201209-G-GT c.5334_5335insA p.Q1779Tfs*51 SpliceAcceptorInsertion 21/23 - 1
17-41201209-TG-T c.5335del p.Q1779Nfs*14 Frameshift 21/23 - 14
17-41201209-G-A c.5335C>T p.Q1779* Nonsense 21/23 - 4
17-41201209-G-C c.5335C>G p.Q1779E Missense 21/23 - 2
17-41201209-G-T c.5335C>A p.Q1779K Missense 21/23 - 1
17-41201209-G-GA c.5334dup p.Q1779Sfs*51 SpliceAcceptorInsertion 21/23 - 1
17-41201210-A-G c.5334T>C p.D1778= Synonymous 21/23 - 1
17-41201211-T-C c.5333A>G p.D1778G Missense 21/23 - 8
17-41201213-T-A c.5333-2A>T - IntronicSNV - 20/22 1
17-41201213-T-C c.5333-2A>G - IntronicSNV - 20/22 1
17-41201213-T-G c.5333-2A>C - IntronicSNV - 20/22 1
17-41201214-TAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTC-T c.5333-61_5333-3del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion - 20/22 1
17-41201364-T-C c.5333-153A>G - IntronicSNV - 20/22 5
17-41202258-C-T c.5332+822G>A - IntronicSNV - 20/22 1
17-41202408-CGAGGTCAGGAGATCGGGACCATATTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA-C c.5332+614_5332+672del - Unclassified - 20/22 1
17-41202688-G-A c.5332+392C>T - IntronicSNV - 20/22 1
17-41202897-G-GT c.5332+182dup - IntronicInsertion - 20/22 1
17-41202953-G-T c.5332+127C>A - IntronicSNV - 20/22 1
17-41203002-G-T c.5332+78C>A - IntronicSNV - 20/22 1
17-41203049-C-T c.5332+31G>A - IntronicSNV - 20/22 1
17-41203067-C-A c.5332+13G>T - IntronicSNV - 20/22 1
17-41203075-CT-C c.5332+4del - IntronicDeletion - 20/22 3
17-41203077-T-C c.5332+3A>G - IntronicSNV - 20/22 1
17-41203079-C-A c.5332+1G>T - IntronicSNV - 20/22 1
17-41203079-C-G c.5332+1G>C - IntronicSNV - 20/22 3
17-41203079-C-T c.5332+1G>A - IntronicSNV - 20/22 17
17-41203079-ACCT-A c.5331_5332+1del - SpliceDonorDeletion 20/23 20/22 1
17-41203078-AC-A c.5332+1del - IntronicDeletion 20/23 - 3
17-41203080-C-A c.5332G>T p.D1778Y Missense 20/23 - 7
17-41203080-C-T c.5332G>A p.D1778N Missense 20/23 - 7
17-41203082-G-A c.5330C>T p.T1777I Missense 20/23 - 2
17-41203082-G-T c.5330C>A p.T1777K Missense 20/23 - 1
17-41203082-G-C c.5330C>G p.T1777R Missense 20/23 - 1
17-41203082-G-GT c.5329dup p.T1777Nfs*53 Frameshift 20/23 - 5
17-41203083-T-G c.5329A>C p.T1777P Missense 20/23 - 1
17-41203083-T-C c.5329A>G p.T1777A Missense 20/23 - 2
17-41203083-T-A c.5329A>T p.T1777S Missense 20/23 - 1
17-41203079-CCTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGAT-C c.5278_5332del p.F1761Nfs*14 Unclassified 20/23 19/22 1
17-41203084-G-A c.5328C>T p.P1776= Synonymous 20/23 - 1
17-41203084-G-C c.5328C>G p.P1776= Synonymous 20/23 - 1
17-41203084-G-T c.5328C>A p.P1776= Synonymous 20/23 - 1
17-41203085-G-A c.5327C>T p.P1776L Missense 20/23 - 4
17-41203085-G-T c.5327C>A p.P1776H Missense 20/23 - 7
17-41203085-G-C c.5327C>G p.P1776R Missense 20/23 - 1
17-41203083-T-TG c.5328dup p.T1777Hfs*53 Frameshift 20/23 - 4
17-41203086-G-A c.5326C>T p.P1776S Missense 20/23 - 3
17-41203083-TG-T c.5328del p.T1777Qfs*16 Frameshift 20/23 - 1
17-41203086-G-T c.5326C>A p.P1776T Missense 20/23 - 1
17-41203086-G-C c.5326C>G p.P1776A Missense 20/23 - 1
17-41203087-C-T c.5325G>A p.M1775I Missense 20/23 - 1
17-41203087-CA-GC c.5324_5325delinsGC p.M1775S Missense 20/23 - 1
17-41203088-A-C c.5324T>G p.M1775R Missense 20/23 - 120
17-41203088-A-T c.5324T>A p.M1775K Missense 20/23 - 21
17-41203088-AT-TC c.5323_5324delinsGA p.M1775E Missense 20/23 - 3
17-41203088-A-G c.5324T>C p.M1775T Missense 20/23 - 2
17-41203089-T-G c.5323A>C p.M1775L Missense 20/23 - 2
17-41203089-T-A c.5323A>T p.M1775L Missense 20/23 - 2
17-41203089-T-C c.5323A>G p.M1775V Missense 20/23 - 2
17-41203090-G-T c.5322C>A p.N1774K Missense 20/23 - 1
17-41203090-G-C c.5322C>G p.N1774K Missense 20/23 - 1
17-41203091-T-G c.5321A>C p.N1774T Missense 20/23 - 1
17-41203091-T-C c.5321A>G p.N1774S Missense 20/23 - 1
17-41203091-T-A c.5321A>T p.N1774I Missense 20/23 - 1
17-41203091-TT-GC c.5320_5321delinsGC p.N1774A Missense 20/23 - 1
17-41203092-T-G c.5320A>C p.N1774H Missense 20/23 - 1
17-41203092-T-C c.5320A>G p.N1774D Missense 20/23 - 1
17-41203092-T-A c.5320A>T p.N1774Y Missense 20/23 - 1
17-41203092-T-TG c.5319dup p.N1774Qfs*56 Frameshift 20/23 - 4
17-41203094-G-A c.5318C>T p.T1773I Missense 20/23 - 6
17-41203094-GT-CA c.5317_5318delinsTG p.T1773C Missense 20/23 - 1
17-41203094-G-T c.5318C>A p.T1773N Missense 20/23 - 1
17-41203094-G-C c.5318C>G p.T1773S Missense 20/23 - 4
17-41203095-T-A c.5317A>T p.T1773S Missense 20/23 - 6
17-41203095-T-G c.5317A>C p.T1773P Missense 20/23 - 1
17-41203095-T-C c.5317A>G p.T1773A Missense 20/23 - 1
17-41203096-G-T c.5316C>A p.F1772L Missense 20/23 - 1
17-41203096-G-A c.5316C>T p.F1772= Synonymous 20/23 - 1
17-41203097-A-T c.5315T>A p.F1772Y Missense 20/23 - 1
17-41203097-A-G c.5315T>C p.F1772S Missense 20/23 - 1
17-41203097-A-C c.5315T>G p.F1772C Missense 20/23 - 1
17-41203098-A-T c.5314T>A p.F1772I Missense 20/23 - 1
17-41203098-A-G c.5314T>C p.F1772L Missense 20/23 - 1
17-41203099-G-C c.5313C>G p.P1771= Synonymous 20/23 - 1
17-41203100-G-C c.5312C>G p.P1771R Missense 20/23 - 3
17-41203100-G-T c.5312C>A p.P1771H Missense 20/23 - 1
17-41203100-G-A c.5312C>T p.P1771L Missense 20/23 - 5
17-41203101-G-T c.5311C>A p.P1771T Missense 20/23 - 1
17-41203101-G-C c.5311C>G p.P1771A Missense 20/23 - 1
17-41203101-G-A c.5311C>T p.P1771S Missense 20/23 - 2
17-41203102-C-A c.5310G>T p.G1770= Synonymous 20/23 - 1
17-41203103-C-A c.5309G>T p.G1770V Missense 20/23 - 15
17-41203103-C-T c.5309G>A p.G1770E Missense 20/23 - 3
17-41203103-C-G c.5309G>C p.G1770A Missense 20/23 - 1
17-41203104-C-A c.5308G>T p.G1770W Missense 20/23 - 3
17-41203101-G-GC c.5310dup p.P1771Afs*59 Frameshift 20/23 - 1
17-41203104-C-G c.5308G>C p.G1770R Missense 20/23 - 1
17-41203101-GC-G c.5310del p.F1772Sfs*21 Frameshift 20/23 - 1
17-41203106-T-G c.5306A>C p.Y1769S Missense 20/23 - 1
17-41203106-T-A c.5306A>T p.Y1769F Missense 20/23 - 1
17-41203106-T-C c.5306A>G p.Y1769C Missense 20/23 - 1
17-41203107-A-T c.5305T>A p.Y1769N Missense 20/23 - 1
17-41203107-A-C c.5305T>G p.Y1769D Missense 20/23 - 1
17-41203108-G-A c.5304C>T p.C1768= Synonymous 20/23 - 1
17-41203108-G-C c.5304C>G p.C1768W Missense 20/23 - 1
17-41203109-C-T c.5303G>A p.C1768Y Missense 20/23 - 1
17-41203109-C-G c.5303G>C p.C1768S Missense 20/23 - 1
17-41203109-C-A c.5303G>T p.C1768F Missense 20/23 - 1
17-41203110-AAC-A c.5300_5301del p.C1767Lfs*62 Frameshift 20/23 - 1
17-41203112-C-T c.5300G>A p.C1767Y Missense 20/23 - 1
17-41203112-C-A c.5300G>T p.C1767F Missense 20/23 - 1
17-41203113-A-T c.5299T>A p.C1767S Missense 20/23 - 1
17-41203114-G-C c.5298C>G p.I1766M Missense 20/23 - 1
17-41203115-A-C c.5297T>G p.I1766S Missense 20/23 - 18
17-41203115-A-T c.5297T>A p.I1766N Missense 20/23 - 3
17-41203115-A-G c.5297T>C p.I1766T Missense 20/23 - 1
17-41203116-T-G c.5296A>C p.I1766L Missense 20/23 - 1
17-41203116-T-C c.5296A>G p.I1766V Missense 20/23 - 1
17-41203116-T-A c.5296A>T p.I1766F Missense 20/23 - 1
17-41203117-T-G c.5295A>C p.E1765D Missense 20/23 - 2
17-41203117-T-A c.5295A>T p.E1765D Missense 20/23 - 1
17-41203115-AT-A c.5296del p.I1766Sfs*27 Frameshift 20/23 - 1
17-41203118-T-G c.5294A>C p.E1765A Missense 20/23 - 1
17-41203118-T-A c.5294A>T p.E1765V Missense 20/23 - 1
17-41203119-C-T c.5293G>A p.E1765K Missense 20/23 - 4
17-41203119-C-G c.5293G>C p.E1765Q Missense 20/23 - 1
17-41203120-T-A c.5292A>T p.L1764= Synonymous 20/23 - 1
17-41203120-T-C c.5292A>G p.L1764= Synonymous 20/23 - 1
17-41203120-T-G c.5292A>C p.L1764= Synonymous 20/23 - 1
17-41203122-G-A c.5290C>T p.L1764= Synonymous 20/23 - 1
17-41203121-A-G c.5291T>C p.L1764P Missense 20/23 - 19
17-41203121-A-T c.5291T>A p.L1764Q Missense 20/23 - 1
17-41203122-G-T c.5290C>A p.L1764I Missense 20/23 - 1
17-41203122-G-C c.5290C>G p.L1764V Missense 20/23 - 1
17-41203124-C-A c.5288G>T p.G1763V Missense 20/23 - 7
17-41203124-C-T c.5288G>A p.G1763E Missense 20/23 - 1
17-41203124-C-G c.5288G>C p.G1763A Missense 20/23 - 1
17-41203125-C-G c.5287G>C p.G1763R Missense 20/23 - 1
17-41203126-C-G c.5286G>C p.R1762S Missense 20/23 - 1
17-41203126-C-A c.5286G>T p.R1762S Missense 20/23 - 1
17-41203122-G-GC c.5289dup p.L1764Afs*66 Frameshift 20/23 - 4
17-41203127-C-T c.5285G>A p.R1762K Missense 20/23 - 2
17-41203122-GC-G c.5289del p.L1764* Frameshift 20/23 - 3
17-41203127-C-G c.5285G>C p.R1762T Missense 20/23 - 1
17-41203127-C-A c.5285G>T p.R1762M Missense 20/23 - 1
17-41203128-T-C c.5284A>G p.R1762G Missense 20/23 - 2
17-41203128-T-A c.5284A>T p.R1762W Missense 20/23 - 1
17-41203129-G-T c.5283C>A p.F1761L Missense 20/23 - 1
17-41203129-G-C c.5283C>G p.F1761L Missense 20/23 - 1
17-41203130-A-G c.5282T>C p.F1761S Missense 20/23 - 6
17-41203130-A-C c.5282T>G p.F1761C Missense 20/23 - 1
17-41203126-CCTGAAGAT-C c.5278_5285del p.I1760Gfs*67 SpliceAcceptorDeletion 20/23 19/22 1
17-41203131-A-T c.5281T>A p.F1761I Missense 20/23 - 2
17-41203131-A-G c.5281T>C p.F1761L Missense 20/23 - 1
17-41203131-A-C c.5281T>G p.F1761V Missense 20/23 - 1
17-41203132-G-T c.5280C>A p.I1760= Synonymous 20/23 - 1
17-41203132-G-A c.5280C>T p.I1760= Synonymous 20/23 - 1
17-41203133-A-G c.5279T>C p.I1760T Missense 20/23 - 1
17-41204377-A-G c.5278-1243T>C - IntronicSNV - 19/22 1
17-41204377-A-T c.5278-1243T>A - IntronicSNV - 19/22 1
17-41205892-CAGGAGAATCACTTGAACCCTGGAGGCAGAGATTGCGGTGAGCCAAGATCACGCCATTGT-C c.5278-2816_5278-2758del - SpliceDonorDeletion - 19/22 3
17-41208698-AAAAAAGAGAGAGAGAGAGCAAGAGAGAGAGAGAGAAAGACACCCCAGTGAAGTGAAAAG-A c.5277+312_5277+370del - Unclassified - 19/22 1
17-41208992-G-A c.5277+77C>T - IntronicSNV - 19/22 1
17-41208992-G-T c.5277+77C>A - IntronicSNV - 19/22 1
17-41209008-G-GGGAGTGGAATAC c.5277+60_5277+61insGTATTCCACTCC - IntronicInsertion - 19/22 1
17-41209054-G-A c.5277+15C>T - IntronicSNV - 19/22 1
17-41209062-GCTTTAC-G c.5277+1_5277+6del - SpliceDonorDeletion 19/23 19/22 2
17-41209068-C-T c.5277+1G>A - IntronicSNV - 19/22 14
17-41209068-C-A c.5277+1G>T - IntronicSNV - 19/22 1
17-41209068-C-G c.5277+1G>C - IntronicSNV - 19/22 1
17-41209068-C-CTA c.5277_5277+1insTA p.I1760* SpliceDonorInsertion - - 1
17-41209069-C-T c.5277G>A p.K1759= Synonymous 19/23 - 1
17-41209067-AC-A c.5277+1del - IntronicDeletion 19/23 - 1
17-41209069-CCTT-C c.5275_5277del p.K1759del InFrameDeletion 19/23 - 2
17-41209069-C-G c.5277G>C p.K1759N Missense 19/23 - 1
17-41209069-C-A c.5277G>T p.K1759N Missense 19/23 - 1
17-41209070-T-A c.5276A>T p.K1759M Missense 19/23 - 1
17-41209070-T-C c.5276A>G p.K1759R Missense 19/23 - 1
17-41209071-T-G c.5275A>C p.K1759Q Missense 19/23 - 1
17-41209071-T-C c.5275A>G p.K1759E Missense 19/23 - 1
17-41209071-TTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACA-T c.5217_5275del p.D1739Efs*71 InFrameDeletion 19/23 - 5
17-41209072-T-C c.5274A>G p.R1758= Synonymous 19/23 - 1
17-41209072-T-G c.5274A>C p.R1758S Missense 19/23 - 2
17-41209072-T-A c.5274A>T p.R1758S Missense 19/23 - 2
17-41209073-C-T c.5273G>A p.R1758K Missense 19/23 - 1
17-41209073-C-G c.5273G>C p.R1758T Missense 19/23 - 1
17-41209073-C-A c.5273G>T p.R1758I Missense 19/23 - 2
17-41209074-T-C c.5272A>G p.R1758G Missense 19/23 - 1
17-41209075-G-T c.5271C>A p.D1757E Missense 19/23 - 2
17-41209075-G-C c.5271C>G p.D1757E Missense 19/23 - 1
17-41209075-TGTC-T c.5269_5271del p.D1757del InFrameDeletion 19/23 - 1
17-41209076-T-G c.5270A>C p.D1757A Missense 19/23 - 1
17-41209076-T-C c.5270A>G p.D1757G Missense 19/23 - 1
17-41209076-T-A c.5270A>T p.D1757V Missense 19/23 - 1
17-41209077-C-T c.5269G>A p.D1757N Missense 19/23 - 2
17-41209077-C-G c.5269G>C p.D1757H Missense 19/23 - 2
17-41209077-C-A c.5269G>T p.D1757Y Missense 19/23 - 1
17-41209078-C-T c.5268G>A p.Q1756= Synonymous 19/23 - 2
17-41209078-CTG-ACA c.5266_5268delinsTGT p.Q1756C Missense 19/23 - 1
17-41209078-C-CG c.5267_5268insC p.Q1756Hfs*74 Frameshift 19/23 - 2
17-41209078-C-G c.5268G>C p.Q1756H Missense 19/23 - 1
17-41209078-C-A c.5268G>T p.Q1756H Missense 19/23 - 2
17-41209079-T-G c.5267A>C p.Q1756P Missense 19/23 - 3
17-41209079-T-C c.5267A>G p.Q1756R Missense 19/23 - 1
17-41209079-T-A c.5267A>T p.Q1756L Missense 19/23 - 1
17-41209080-G-A c.5266C>T p.Q1756* Nonsense 19/23 - 3
17-41209080-G-T c.5266C>A p.Q1756K Missense 19/23 - 1
17-41209080-G-C c.5266C>G p.Q1756E Missense 19/23 - 1
17-41209079-T-TG c.5266dup p.Q1756Pfs*74 Frameshift 19/23 - 304
17-41209082-G-T c.5264C>A p.S1755Y Missense 19/23 - 1
17-41209082-G-C c.5264C>G p.S1755C Missense 19/23 - 2
17-41209082-G-A c.5264C>T p.S1755F Missense 19/23 - 1
17-41209083-A-T c.5263T>A p.S1755T Missense 19/23 - 1
17-41209083-A-G c.5263T>C p.S1755P Missense 19/23 - 2
17-41209083-A-C c.5263T>G p.S1755A Missense 19/23 - 1
17-41209082-G-GA c.5263dup p.S1755Ffs*75 Frameshift 19/23 - 1
17-41209084-T-G c.5262A>C p.E1754D Missense 19/23 - 1
17-41209084-T-A c.5262A>T p.E1754D Missense 19/23 - 1
17-41209084-T-C c.5262A>G p.E1754= Synonymous 19/23 - 1
17-41209085-T-C c.5261A>G p.E1754G Missense 19/23 - 3
17-41209085-T-G c.5261A>C p.E1754A Missense 19/23 - 1
17-41209085-T-A c.5261A>T p.E1754V Missense 19/23 - 3
17-41209086-C-T c.5260G>A p.E1754K Missense 19/23 - 2
17-41209086-C-G c.5260G>C p.E1754Q Missense 19/23 - 1
17-41209086-C-A c.5260G>T p.E1754* Nonsense 19/23 - 3
17-41209087-T-G c.5259A>C p.R1753S Missense 19/23 - 2
17-41209087-T-A c.5259A>T p.R1753S Missense 19/23 - 2
17-41209088-C-G c.5258G>C p.R1753T Missense 19/23 - 10
17-41209088-C-T c.5258G>A p.R1753K Missense 19/23 - 4
17-41209088-C-A c.5258G>T p.R1753I Missense 19/23 - 2
17-41209089-T-A c.5257A>T p.R1753* Nonsense 19/23 - 2
17-41209089-T-C c.5257A>G p.R1753G Missense 19/23 - 2
17-41209090-T-A c.5256A>T p.A1752= Synonymous 19/23 - 1
17-41209088-C-CT c.5257dup p.R1753Kfs*77 Frameshift 19/23 - 1
17-41209091-G-A c.5255C>T p.A1752V Missense 19/23 - 3
17-41209091-G-T c.5255C>A p.A1752E Missense 19/23 - 1
17-41209091-G-C c.5255C>G p.A1752G Missense 19/23 - 1
17-41209091-GC-CT c.5254_5255delinsAG p.A1752R Missense 19/23 - 1
17-41209092-C-T c.5254G>A p.A1752T Missense 19/23 - 7
17-41209092-C-G c.5254G>C p.A1752P Missense 19/23 - 9
17-41209092-C-A c.5254G>T p.A1752S Missense 19/23 - 1
17-41209094-C-A c.5252G>T p.R1751L Missense 19/23 - 3
17-41209094-C-G c.5252G>C p.R1751P Missense 19/23 - 7
17-41209094-C-T c.5252G>A p.R1751Q Missense 19/23 - 20
17-41209095-G-A c.5251C>T p.R1751* Nonsense 19/23 - 81
17-41209095-G-C c.5251C>G p.R1751G Missense 19/23 - 4
17-41209095-G-T c.5251C>A p.R1751= Synonymous 19/23 - 2
17-41209093-T-G c.5253A>C p.R1751= Synonymous 19/23 - 1
17-41209093-T-C c.5253A>G p.R1751= Synonymous 19/23 - 1
17-41209093-T-A c.5253A>T p.R1751= Synonymous 19/23 - 1
17-41209096-C-A c.5250G>T p.K1750N Missense 19/23 - 1
17-41209097-T-G c.5249A>C p.K1750T Missense 19/23 - 1
17-41209097-T-C c.5249A>G p.K1750R Missense 19/23 - 1
17-41209097-T-A c.5249A>T p.K1750M Missense 19/23 - 1
17-41209098-T-G c.5248A>C p.K1750Q Missense 19/23 - 1
17-41209098-T-C c.5248A>G p.K1750E Missense 19/23 - 1
17-41209100-G-C c.5246C>G p.P1749R Missense 19/23 - 25
17-41209100-G-A c.5246C>T p.P1749L Missense 19/23 - 4
17-41209100-G-T c.5246C>A p.P1749Q Missense 19/23 - 3
17-41209101-G-A c.5245C>T p.P1749S Missense 19/23 - 5
17-41209101-G-T c.5245C>A p.P1749T Missense 19/23 - 3
17-41209101-G-C c.5245C>G p.P1749A Missense 19/23 - 3
17-41209103-C-T c.5243G>A p.G1748D Missense 19/23 - 6
17-41209103-ACCTT-A c.5240_5243del p.Q1747Lfs*17 Frameshift 19/23 - 1
17-41209103-C-G c.5243G>C p.G1748A Missense 19/23 - 2
17-41209103-C-A c.5243G>T p.G1748V Missense 19/23 - 2
17-41209104-C-T c.5242G>A p.G1748S Missense 19/23 - 3
17-41209104-C-G c.5242G>C p.G1748R Missense 19/23 - 3
17-41209104-C-A c.5242G>T p.G1748C Missense 19/23 - 3
17-41209105-T-G c.5241A>C p.Q1747H Missense 19/23 - 2
17-41209105-T-A c.5241A>T p.Q1747H Missense 19/23 - 2
17-41209106-T-G c.5240A>C p.Q1747P Missense 19/23 - 2
17-41209106-T-C c.5240A>G p.Q1747R Missense 19/23 - 2
17-41209106-T-A c.5240A>T p.Q1747L Missense 19/23 - 2
17-41209107-G-A c.5239C>T p.Q1747* Nonsense 19/23 - 5
17-41209107-G-T c.5239C>A p.Q1747K Missense 19/23 - 2
17-41209107-G-C c.5239C>G p.Q1747E Missense 19/23 - 2
17-41209108-G-T c.5238C>A p.H1746Q Missense 19/23 - 2
17-41209108-G-C c.5238C>G p.H1746Q Missense 19/23 - 2
17-41209106-TG-T c.5239del p.Q1747Kfs*18 Frameshift 19/23 - 1
17-41209109-T-G c.5237A>C p.H1746P Missense 19/23 - 3
17-41209109-T-C c.5237A>G p.H1746R Missense 19/23 - 2
17-41209109-T-A c.5237A>T p.H1746L Missense 19/23 - 2
17-41209110-G-T c.5236C>A p.H1746N Missense 19/23 - 5
17-41209110-G-C c.5236C>G p.H1746D Missense 19/23 - 5
17-41209110-G-A c.5236C>T p.H1746Y Missense 19/23 - 3
17-41209111-G-T c.5235C>A p.N1745K Missense 19/23 - 2
17-41209111-G-C c.5235C>G p.N1745K Missense 19/23 - 2
17-41209112-T-G c.5234A>C p.N1745T Missense 19/23 - 2
17-41209112-T-C c.5234A>G p.N1745S Missense 19/23 - 2
17-41209112-T-A c.5234A>T p.N1745I Missense 19/23 - 2
17-41209113-T-G c.5233A>C p.N1745H Missense 19/23 - 2
17-41209113-T-C c.5233A>G p.N1745D Missense 19/23 - 2
17-41209113-T-A c.5233A>T p.N1745Y Missense 19/23 - 2
17-41209114-T-G c.5232A>C p.R1744S Missense 19/23 - 1
17-41209114-T-A c.5232A>T p.R1744S Missense 19/23 - 1
17-41209111-GT-G c.5234del p.N1745Tfs*20 Frameshift 19/23 - 2
17-41209115-C-T c.5231G>A p.R1744K Missense 19/23 - 2
17-41209115-C-G c.5231G>C p.R1744T Missense 19/23 - 2
17-41209115-C-A c.5231G>T p.R1744I Missense 19/23 - 1
17-41209115-TC-T c.5231del p.R1744Kfs*21 Frameshift 19/23 - 1
17-41209115-CT-TC c.5230_5231delinsGA p.R1744E Missense 19/23 - 1
17-41209115-CT-GC c.5230_5231delinsGC p.R1744A Missense 19/23 - 1
17-41209116-CTT-C c.5229_5230del p.R1744Kfs*85 Frameshift 19/23 - 2
17-41209116-T-C c.5230A>G p.R1744G Missense 19/23 - 1
17-41209116-T-A c.5230A>T p.R1744* Nonsense 19/23 - 1
17-41209117-TCC-ACA c.5227_5229delinsTGT p.G1743C Missense 19/23 - 2
17-41209118-C-T c.5228G>A p.G1743E Missense 19/23 - 3
17-41209118-C-A c.5228G>T p.G1743V Missense 19/23 - 3
17-41209118-C-G c.5228G>C p.G1743A Missense 19/23 - 1
17-41209119-C-T c.5227G>A p.G1743R Missense 19/23 - 3
17-41209119-C-G c.5227G>C p.G1743R Missense 19/23 - 3
17-41209120-A-T c.5226T>A p.N1742K Missense 19/23 - 2
17-41209120-A-C c.5226T>G p.N1742K Missense 19/23 - 2
17-41209119-CATTG-C c.5223_5226del p.N1742Efs*22 Frameshift 19/23 - 1
17-41209121-T-G c.5225A>C p.N1742T Missense 19/23 - 2
17-41209121-T-C c.5225A>G p.N1742S Missense 19/23 - 1
17-41209121-T-A c.5225A>T p.N1742I Missense 19/23 - 2
17-41209121-TT-CC c.5224_5225delinsGG p.N1742G Missense 19/23 - 1
17-41209122-T-G c.5224A>C p.N1742H Missense 19/23 - 1
17-41209122-T-A c.5224A>T p.N1742Y Missense 19/23 - 1
17-41209124-A-C c.5222T>G p.V1741G Missense 19/23 - 4
17-41209124-A-T c.5222T>A p.V1741D Missense 19/23 - 2
17-41209124-A-G c.5222T>C p.V1741A Missense 19/23 - 2
17-41209125-C-T c.5221G>A p.V1741I Missense 19/23 - 1
17-41209126-CAC-GAT c.5218_5220delinsATC p.V1740I Missense 19/23 - 1
17-41209127-A-G c.5219T>C p.V1740A Missense 19/23 - 2
17-41209127-A-C c.5219T>G p.V1740G Missense 19/23 - 2
17-41209127-A-T c.5219T>A p.V1740E Missense 19/23 - 2
17-41209128-C-G c.5218G>C p.V1740L Missense 19/23 - 2
17-41209128-C-A c.5218G>T p.V1740L Missense 19/23 - 1
17-41209128-C-T c.5218G>A p.V1740M Missense 19/23 - 1
17-41209129-A-C c.5217T>G p.D1739E Missense 19/23 - 4
17-41209129-A-T c.5217T>A p.D1739E Missense 19/23 - 3
17-41209130-T-A c.5216A>T p.D1739V Missense 19/23 - 10
17-41209130-T-C c.5216A>G p.D1739G Missense 19/23 - 5
17-41209130-T-G c.5216A>C p.D1739A Missense 19/23 - 2
17-41209131-C-G c.5215G>C p.D1739H Missense 19/23 - 3
17-41209131-C-A c.5215G>T p.D1739Y Missense 19/23 - 4
17-41209131-C-T c.5215G>A p.D1739N Missense 19/23 - 3
17-41209133-C-T c.5213G>A p.G1738E Missense 19/23 - 23
17-41209133-C-G c.5213G>C p.G1738A Missense 19/23 - 2
17-41209133-C-A c.5213G>T p.G1738V Missense 19/23 - 2
17-41209134-C-T c.5212G>A p.G1738R Missense 19/23 - 37
17-41209134-C-G c.5212G>C p.G1738R Missense 19/23 - 7
17-41209135-T-G c.5211A>C p.R1737S Missense 19/23 - 2
17-41209135-T-A c.5211A>T p.R1737S Missense 19/23 - 2
17-41209135-T-C c.5211A>G p.R1737= Synonymous 19/23 - 2
17-41209137-T-G c.5209A>C p.R1737= Synonymous 19/23 - 1
17-41209133-CCT-C c.5211_5212del p.G1738Rfs*91 Frameshift 19/23 - 5
17-41209136-C-G c.5210G>C p.R1737T Missense 19/23 - 3
17-41209136-C-A c.5210G>T p.R1737I Missense 19/23 - 2
17-41209136-CT-GG c.5209_5210delinsCC p.R1737P Missense 19/23 - 1
17-41209136-CT-TC c.5209_5210delinsGA p.R1737E Missense 19/23 - 1
17-41209137-T-C c.5209A>G p.R1737G Missense 19/23 - 2
17-41209137-T-A c.5209A>T p.R1737* Nonsense 19/23 - 1
17-41209139-A-G c.5207T>C p.V1736A Missense 19/23 - 29
17-41209139-A-C c.5207T>G p.V1736G Missense 19/23 - 9
17-41209139-A-T c.5207T>A p.V1736D Missense 19/23 - 2
17-41209140-C-G c.5206G>C p.V1736L Missense 19/23 - 2
17-41209140-C-T c.5206G>A p.V1736I Missense 19/23 - 1
17-41209140-C-A c.5206G>T p.V1736F Missense 19/23 - 1
17-41209141-T-A c.5205A>T p.E1735D Missense 19/23 - 1
17-41209141-T-C c.5205A>G p.E1735= Synonymous 19/23 - 2
17-41209140-CT-C c.5205del p.V1736Sfs*29 Frameshift 19/23 - 1
17-41209142-T-G c.5204A>C p.E1735A Missense 19/23 - 1
17-41209142-T-C c.5204A>G p.E1735G Missense 19/23 - 1
17-41209142-T-A c.5204A>T p.E1735V Missense 19/23 - 1
17-41209143-C-T c.5203G>A p.E1735K Missense 19/23 - 4
17-41209143-C-G c.5203G>C p.E1735Q Missense 19/23 - 1
17-41209145-A-G c.5201T>C p.F1734S Missense 19/23 - 6
17-41209145-A-T c.5201T>A p.F1734Y Missense 19/23 - 1
17-41209145-A-C c.5201T>G p.F1734C Missense 19/23 - 1
17-41209146-A-G c.5200T>C p.F1734L Missense 19/23 - 3
17-41209144-A-T c.5202T>A p.F1734L Missense 19/23 - 3
17-41209144-A-C c.5202T>G p.F1734L Missense 19/23 - 3
17-41209143-CAA-C c.5201_5202del p.F1734* Frameshift 19/23 - 1
17-41209146-A-T c.5200T>A p.F1734I Missense 19/23 - 1
17-41209146-A-C c.5200T>G p.F1734V Missense 19/23 - 1
17-41209147-A-T c.5199T>A p.D1733E Missense 19/23 - 1
17-41209147-A-C c.5199T>G p.D1733E Missense 19/23 - 1
17-41209143-CA-C c.5202del p.F1734Lfs*31 Frameshift 19/23 - 1
17-41209148-T-C c.5198A>G p.D1733G Missense 19/23 - 10
17-41209148-T-A c.5198A>T p.D1733V Missense 19/23 - 2
17-41209148-T-G c.5198A>C p.D1733A Missense 19/23 - 1
17-41209148-TC-CG c.5197_5198delinsCG p.D1733R Missense 19/23 - 1
17-41209149-C-T c.5197G>A p.D1733N Missense 19/23 - 1
17-41209149-C-G c.5197G>C p.D1733H Missense 19/23 - 1
17-41209149-C-A c.5197G>T p.D1733Y Missense 19/23 - 3
17-41209150-A-T c.5196T>A p.H1732Q Missense 19/23 - 1
17-41209150-A-C c.5196T>G p.H1732Q Missense 19/23 - 1
17-41209151-T-C c.5195A>G p.H1732R Missense 19/23 - 1
17-41209152-G-A c.5194C>T p.H1732Y Missense 19/23 - 1
17-41209152-G-C c.5194C>G p.H1732D Missense 19/23 - 1
17-41209153-C-A c.5194-1G>T - IntronicSNV - 18/22 1
17-41209153-C-G c.5194-1G>C - IntronicSNV - 18/22 1
17-41209153-C-T c.5194-1G>A - IntronicSNV - 18/22 1
17-41209154-T-C c.5194-2A>G - IntronicSNV - 18/22 2
17-41209154-T-G c.5194-2A>C - IntronicSNV - 18/22 2
17-41209156-A-G c.5194-4T>C - IntronicSNV - 18/22 1
17-41210396-A-C c.5194-1244T>G - IntronicSNV - 18/22 1
17-41211653-A-G c.5194-2501T>C - IntronicSNV - 18/22 1
17-41213748-T-C c.5193+1602A>G - IntronicSNV - 18/22 2
17-41213748-T-G c.5193+1602A>C - IntronicSNV - 18/22 2
17-41213760-C-T c.5193+1590G>A - IntronicSNV - 18/22 1
17-41213996-C-T c.5193+1354G>A - IntronicSNV - 18/22 3
17-41215180-TATAGGTATGAGCCACAGTGCAGGCCTGCATAATTCTTGATGATCCTCATTATCATGGAA-T c.5193+111_5193+169del - Unclassified - 18/22 1
17-41215271-T-C c.5193+79A>G - IntronicSNV - 18/22 1
17-41215348-A-C c.5193+2T>G - IntronicSNV - 18/22 1
17-41215348-TA-T c.5193+2del - IntronicDeletion - 18/22 2
17-41215349-C-G c.5193+1G>C - IntronicSNV - 18/22 3
17-41215349-C-A c.5193+1G>T - IntronicSNV - 18/22 4
17-41215349-C-T c.5193+1G>A - IntronicSNV - 18/22 2
17-41215348-AC-A c.5193+1del - IntronicDeletion 18/23 - 2
17-41215350-C-G c.5193G>C p.E1731D Missense 18/23 - 2
17-41215350-C-A c.5193G>T p.E1731D Missense 18/23 - 1
17-41215352-C-T c.5191G>A p.E1731K Missense 18/23 - 1
17-41215353-A-T c.5190T>A p.N1730K Missense 18/23 - 1
17-41215353-A-C c.5190T>G p.N1730K Missense 18/23 - 1
17-41215354-T-G c.5189A>C p.N1730T Missense 18/23 - 1
17-41215354-T-C c.5189A>G p.N1730S Missense 18/23 - 3
17-41215354-T-A c.5189A>T p.N1730I Missense 18/23 - 1
17-41215355-T-G c.5188A>C p.N1730H Missense 18/23 - 1
17-41215355-T-C c.5188A>G p.N1730D Missense 18/23 - 1
17-41215355-T-A c.5188A>T p.N1730Y Missense 18/23 - 1
17-41215356-C-A c.5187G>T p.L1729= Synonymous 18/23 - 1
17-41215356-C-T c.5187G>A p.L1729= Synonymous 18/23 - 1
17-41215356-C-G c.5187G>C p.L1729= Synonymous 18/23 - 1
17-41215358-G-A c.5185C>T p.L1729= Synonymous 18/23 - 1
17-41215357-A-T c.5186T>A p.L1729Q Missense 18/23 - 4
17-41215357-A-C c.5186T>G p.L1729R Missense 18/23 - 1
17-41215358-G-T c.5185C>A p.L1729M Missense 18/23 - 1
17-41215358-G-C c.5185C>G p.L1729V Missense 18/23 - 1
17-41215359-C-T c.5184G>A p.M1728I Missense 18/23 - 1
17-41215359-C-G c.5184G>C p.M1728I Missense 18/23 - 1
17-41215359-C-A c.5184G>T p.M1728I Missense 18/23 - 1
17-41215360-A-T c.5183T>A p.M1728K Missense 18/23 - 1
17-41215360-A-G c.5183T>C p.M1728T Missense 18/23 - 1
17-41215360-A-C c.5183T>G p.M1728R Missense 18/23 - 1
17-41215361-T-G c.5182A>C p.M1728L Missense 18/23 - 1
17-41215361-T-A c.5182A>T p.M1728L Missense 18/23 - 1
17-41215361-T-C c.5182A>G p.M1728V Missense 18/23 - 1
17-41215362-T-G c.5181A>C p.K1727N Missense 18/23 - 1
17-41215362-T-A c.5181A>T p.K1727N Missense 18/23 - 1
17-41215363-T-G c.5180A>C p.K1727T Missense 18/23 - 1
17-41215363-T-C c.5180A>G p.K1727R Missense 18/23 - 1
17-41215363-T-A c.5180A>T p.K1727I Missense 18/23 - 1
17-41215364-T-A c.5179A>T p.K1727* Nonsense 18/23 - 5
17-41215364-T-G c.5179A>C p.K1727Q Missense 18/23 - 1
17-41215364-T-C c.5179A>G p.K1727E Missense 18/23 - 1
17-41215365-T-G c.5178A>C p.R1726S Missense 18/23 - 1
17-41215365-T-A c.5178A>T p.R1726S Missense 18/23 - 1
17-41215366-C-A c.5177G>T p.R1726I Missense 18/23 - 2
17-41215366-C-T c.5177G>A p.R1726K Missense 18/23 - 3
17-41215366-C-G c.5177G>C p.R1726T Missense 18/23 - 1
17-41215367-T-C c.5176A>G p.R1726G Missense 18/23 - 6
17-41215367-T-A c.5176A>T p.R1726* Nonsense 18/23 - 1
17-41215368-T-C c.5175A>G p.E1725= Synonymous 18/23 - 2
17-41215368-T-G c.5175A>C p.E1725D Missense 18/23 - 1
17-41215368-T-A c.5175A>T p.E1725D Missense 18/23 - 1
17-41215369-T-G c.5174A>C p.E1725A Missense 18/23 - 1
17-41215369-T-C c.5174A>G p.E1725G Missense 18/23 - 1
17-41215369-T-A c.5174A>T p.E1725V Missense 18/23 - 1
17-41215366-C-CT c.5176dup p.R1726Kfs*6 Frameshift 18/23 - 2
17-41215362-TTTTC-T c.5177_5180del p.R1726Kfs*3 Frameshift 18/23 - 26
17-41215370-C-T c.5173G>A p.E1725K Missense 18/23 - 1
17-41215370-C-G c.5173G>C p.E1725Q Missense 18/23 - 1
17-41215371-T-G c.5172A>C p.K1724N Missense 18/23 - 1
17-41215371-T-A c.5172A>T p.K1724N Missense 18/23 - 2
17-41215371-T-C c.5172A>G p.K1724= Synonymous 18/23 - 1
17-41215371-TTT-ATG c.5170_5172delinsCAT p.K1724H Missense 18/23 - 1
17-41215372-T-G c.5171A>C p.K1724T Missense 18/23 - 1
17-41215372-T-C c.5171A>G p.K1724R Missense 18/23 - 1
17-41215372-T-A c.5171A>T p.K1724I Missense 18/23 - 1
17-41215373-T-G c.5170A>C p.K1724Q Missense 18/23 - 1
17-41215373-T-C c.5170A>G p.K1724E Missense 18/23 - 2
17-41215370-C-CT c.5172dup p.E1725Rfs*7 Frameshift 18/23 - 2
17-41215374-A-C c.5169T>G p.I1723M Missense 18/23 - 1
17-41215375-A-T c.5168T>A p.I1723N Missense 18/23 - 2
17-41215375-A-G c.5168T>C p.I1723T Missense 18/23 - 1
17-41215375-A-C c.5168T>G p.I1723S Missense 18/23 - 1
17-41215376-T-G c.5167A>C p.I1723L Missense 18/23 - 2
17-41215376-T-C c.5167A>G p.I1723V Missense 18/23 - 1
17-41215376-T-A c.5167A>T p.I1723F Missense 18/23 - 1
17-41215378-G-T c.5165C>A p.S1722Y Missense 18/23 - 1
17-41215378-G-A c.5165C>T p.S1722F Missense 18/23 - 6
17-41215378-G-C c.5165C>G p.S1722C Missense 18/23 - 1
17-41215379-A-G c.5164T>C p.S1722P Missense 18/23 - 2
17-41215379-A-T c.5164T>A p.S1722T Missense 18/23 - 1
17-41215379-A-C c.5164T>G p.S1722A Missense 18/23 - 1
17-41215380-C-T c.5163G>A p.Q1721= Synonymous 18/23 - 1
17-41215380-ACTG-A c.5161_5163del p.Q1721del InFrameDeletion 18/23 - 1
17-41215380-C-G c.5163G>C p.Q1721H Missense 18/23 - 1
17-41215380-C-A c.5163G>T p.Q1721H Missense 18/23 - 1
17-41215381-T-G c.5162A>C p.Q1721P Missense 18/23 - 2
17-41215381-T-C c.5162A>G p.Q1721R Missense 18/23 - 1
17-41215381-T-A c.5162A>T p.Q1721L Missense 18/23 - 2
17-41215382-G-A c.5161C>T p.Q1721* Nonsense 18/23 - 7
17-41215382-G-T c.5161C>A p.Q1721K Missense 18/23 - 1
17-41215382-G-C c.5161C>G p.Q1721E Missense 18/23 - 1
17-41215381-TG-T c.5161del p.Q1721Sfs*9 Frameshift 18/23 - 2
17-41215384-G-A c.5159C>T p.T1720I Missense 18/23 - 1
17-41215385-T-C c.5158A>G p.T1720A Missense 18/23 - 16
17-41215385-T-A c.5158A>T p.T1720S Missense 18/23 - 2
17-41215386-C-A c.5157G>T p.V1719= Synonymous 18/23 - 1
17-41215387-A-C c.5156T>G p.V1719G Missense 18/23 - 2
17-41215387-A-T c.5156T>A p.V1719E Missense 18/23 - 3
17-41215387-A-G c.5156T>C p.V1719A Missense 18/23 - 2
17-41215387-CA-C c.5156del p.V1719Gfs*11 Frameshift 18/23 - 1
17-41215388-C-T c.5155G>A p.V1719M Missense 18/23 - 1
17-41215388-C-G c.5155G>C p.V1719L Missense 18/23 - 1
17-41215388-C-A c.5155G>T p.V1719L Missense 18/23 - 2
17-41215389-C-T c.5154G>A p.W1718* Nonsense 18/23 - 9
17-41215389-C-A c.5154G>T p.W1718C Missense 18/23 - 11
17-41215389-C-G c.5154G>C p.W1718C Missense 18/23 - 5
17-41215390-C-A c.5153G>T p.W1718L Missense 18/23 - 4
17-41215390-C-G c.5153G>C p.W1718S Missense 18/23 - 11
17-41215390-C-T c.5153G>A p.W1718* Nonsense 18/23 - 1
17-41215416-T-C c.5153-26A>G - IntronicSNV - 17/22 1
17-41215805-CA-C c.5152+85del - IntronicDeletion - 17/22 1
17-41215810-AC-A c.5152+80del - IntronicDeletion - 17/22 1
17-41215825-C-T c.5152+66G>A - IntronicSNV - 17/22 17
17-41215871-A-T c.5152+20T>A - IntronicSNV - 17/22 3
17-41215881-T-C c.5152+10A>G - IntronicSNV - 17/22 1
17-41215885-A-G c.5152+6T>C - IntronicSNV - 17/22 2
17-41215886-C-T c.5152+5G>A - IntronicSNV - 17/22 3
17-41215886-C-G c.5152+5G>C - IntronicSNV - 17/22 2
17-41215886-C-A c.5152+5G>T - IntronicSNV - 17/22 1
17-41215887-T-C c.5152+4A>G - IntronicSNV - 17/22 2
17-41215888-T-TA c.5152+2dup - SpliceDonorInsertion - 17/22 2
17-41215889-A-C c.5152+2T>G - IntronicSNV - 17/22 1
17-41215890-C-A c.5152+1G>T - IntronicSNV - 17/22 5
17-41215890-C-G c.5152+1G>C - IntronicSNV - 17/22 3
17-41215890-C-T c.5152+1G>A - IntronicSNV - 17/22 1
17-41215891-CAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGT-C c.5094_5152del p.R1699Gfs*6 Unclassified 17/23 - 4
17-41215891-A-ACT c.5151_5152insAG p.W1718Sfs*3 SpliceDonorInsertion 17/23 - 1
17-41215891-A-C c.5152T>G p.W1718G Missense 17/23 - 1
17-41215893-A-T c.5150T>A p.F1717Y Missense 17/23 - 1
17-41215893-A-G c.5150T>C p.F1717S Missense 17/23 - 1
17-41215893-A-C c.5150T>G p.F1717C Missense 17/23 - 1
17-41215892-GAAAT-G c.5147_5150del p.Y1716Sfs*3 Frameshift 17/23 - 3
17-41215894-A-T c.5149T>A p.F1717I Missense 17/23 - 1
17-41215894-A-G c.5149T>C p.F1717L Missense 17/23 - 1
17-41215894-A-C c.5149T>G p.F1717V Missense 17/23 - 1
17-41215892-GA-G c.5150del p.F1717Sfs*3 Frameshift 17/23 - 1
17-41215896-T-G c.5147A>C p.Y1716S Missense 17/23 - 1
17-41215896-T-C c.5147A>G p.Y1716C Missense 17/23 - 2
17-41215896-T-A c.5147A>T p.Y1716F Missense 17/23 - 1
17-41215897-A-T c.5146T>A p.Y1716N Missense 17/23 - 1
17-41215897-A-G c.5146T>C p.Y1716H Missense 17/23 - 1
17-41215897-A-C c.5146T>G p.Y1716D Missense 17/23 - 1
17-41215898-G-C c.5145C>G p.S1715R Missense 17/23 - 15
17-41215898-G-T c.5145C>A p.S1715R Missense 17/23 - 16
17-41215900-T-G c.5143A>C p.S1715R Missense 17/23 - 20
17-41215899-C-T c.5144G>A p.S1715N Missense 17/23 - 12
17-41215899-C-G c.5144G>C p.S1715T Missense 17/23 - 1
17-41215899-C-A c.5144G>T p.S1715I Missense 17/23 - 1
17-41215900-T-A c.5143A>T p.S1715C Missense 17/23 - 7
17-41215902-A-C c.5141T>G p.V1714G Missense 17/23 - 7
17-41215898-GCTAA-G c.5141_5144del p.V1714Afs*5 Frameshift 17/23 - 1
17-41215902-A-T c.5141T>A p.V1714D Missense 17/23 - 1
17-41215903-C-T c.5140G>A p.V1714I Missense 17/23 - 2
17-41215903-C-G c.5140G>C p.V1714L Missense 17/23 - 2
17-41215903-C-A c.5140G>T p.V1714F Missense 17/23 - 1
17-41215905-A-G c.5138T>C p.V1713A Missense 17/23 - 8
17-41215905-A-T c.5138T>A p.V1713E Missense 17/23 - 1
17-41215905-A-C c.5138T>G p.V1713G Missense 17/23 - 1
17-41215906-C-T c.5137G>A p.V1713I Missense 17/23 - 4
17-41215906-C-A c.5137G>T p.V1713L Missense 17/23 - 2
17-41215906-C-G c.5137G>C p.V1713L Missense 17/23 - 1
17-41215907-C-T c.5136G>A p.W1712* Nonsense 17/23 - 9
17-41215907-C-G c.5136G>C p.W1712C Missense 17/23 - 1
17-41215907-C-A c.5136G>T p.W1712C Missense 17/23 - 1
17-41215908-C-G c.5135G>C p.W1712S Missense 17/23 - 1
17-41215908-C-A c.5135G>T p.W1712L Missense 17/23 - 1
17-41215905-AC-A c.5137del p.V1713* Frameshift 17/23 - 5
17-41215909-A-T c.5134T>A p.W1712R Missense 17/23 - 1
17-41215909-A-G c.5134T>C p.W1712R Missense 17/23 - 1
17-41215909-A-C c.5134T>G p.W1712G Missense 17/23 - 1
17-41215910-T-G c.5133A>C p.K1711N Missense 17/23 - 1
17-41215910-T-A c.5133A>T p.K1711N Missense 17/23 - 1
17-41215911-T-G c.5132A>C p.K1711T Missense 17/23 - 1
17-41215911-T-C c.5132A>G p.K1711R Missense 17/23 - 1
17-41215911-T-A c.5132A>T p.K1711I Missense 17/23 - 1
17-41215912-T-C c.5131A>G p.K1711E Missense 17/23 - 3
17-41215912-T-G c.5131A>C p.K1711Q Missense 17/23 - 2
17-41215909-AT-A c.5133del p.K1711Nfs*3 Frameshift 17/23 - 1
17-41215914-C-T c.5129G>A p.G1710E Missense 17/23 - 1
17-41215914-C-G c.5129G>C p.G1710A Missense 17/23 - 1
17-41215914-C-A c.5129G>T p.G1710V Missense 17/23 - 1
17-41215915-C-A c.5128G>T p.G1710* Nonsense 17/23 - 7
17-41215915-C-T c.5128G>A p.G1710R Missense 17/23 - 1
17-41215915-C-G c.5128G>C p.G1710R Missense 17/23 - 1
17-41215917-C-T c.5126G>A p.G1709E Missense 17/23 - 1
17-41215917-C-G c.5126G>C p.G1709A Missense 17/23 - 1
17-41215917-C-A c.5126G>T p.G1709V Missense 17/23 - 1
17-41215918-C-A c.5125G>T p.G1709* Nonsense 17/23 - 1
17-41215918-C-T c.5125G>A p.G1709R Missense 17/23 - 2
17-41215918-C-G c.5125G>C p.G1709R Missense 17/23 - 1
17-41215920-G-A c.5123C>T p.A1708V Missense 17/23 - 21
17-41215920-G-C c.5123C>G p.A1708G Missense 17/23 - 10
17-41215920-G-T c.5123C>A p.A1708E Missense 17/23 - 119
17-41215921-C-T c.5122G>A p.A1708T Missense 17/23 - 3
17-41215921-C-G c.5122G>C p.A1708P Missense 17/23 - 1
17-41215921-C-A c.5122G>T p.A1708S Missense 17/23 - 2
17-41215922-A-C c.5121T>G p.I1707M Missense 17/23 - 1
17-41215923-A-T c.5120T>A p.I1707N Missense 17/23 - 1
17-41215923-A-G c.5120T>C p.I1707T Missense 17/23 - 1
17-41215923-A-C c.5120T>G p.I1707S Missense 17/23 - 1
17-41215923-AATT-A c.5118_5120del p.I1707del InFrameDeletion 17/23 - 1
17-41215924-T-G c.5119A>C p.I1707L Missense 17/23 - 1
17-41215924-T-C c.5119A>G p.I1707V Missense 17/23 - 1
17-41215924-T-A c.5119A>T p.I1707F Missense 17/23 - 1
17-41215923-ATTCC-A c.5116_5119del p.G1706Lfs*7 Frameshift 17/23 - 1
17-41215925-T-A c.5118A>T p.G1706= Synonymous 17/23 - 1
17-41215925-T-C c.5118A>G p.G1706= Synonymous 17/23 - 1
17-41215925-T-G c.5118A>C p.G1706= Synonymous 17/23 - 1
17-41215926-C-T c.5117G>A p.G1706E Missense 17/23 - 30
17-41215926-CC-TT c.5116_5117delinsAA p.G1706K Missense 17/23 - 1
17-41215926-C-G c.5117G>C p.G1706A Missense 17/23 - 27
17-41215926-C-A c.5117G>T p.G1706V Missense 17/23 - 1
17-41215927-C-T c.5116G>A p.G1706R Missense 17/23 - 3
17-41215927-C-G c.5116G>C p.G1706R Missense 17/23 - 1
17-41215928-T-A c.5115A>T p.L1705= Synonymous 17/23 - 1
17-41215928-T-C c.5115A>G p.L1705= Synonymous 17/23 - 1
17-41215928-T-G c.5115A>C p.L1705= Synonymous 17/23 - 1
17-41215930-G-A c.5113C>T p.L1705= Synonymous 17/23 - 1
17-41215929-A-G c.5114T>C p.L1705P Missense 17/23 - 3
17-41215929-A-T c.5114T>A p.L1705Q Missense 17/23 - 1
17-41215930-G-T c.5113C>A p.L1705I Missense 17/23 - 1
17-41215930-G-C c.5113C>G p.L1705V Missense 17/23 - 1
17-41215932-A-G c.5111T>C p.F1704S Missense 17/23 - 3
17-41215932-A-T c.5111T>A p.F1704Y Missense 17/23 - 3
17-41215932-A-C c.5111T>G p.F1704C Missense 17/23 - 2
17-41215933-A-G c.5110T>C p.F1704L Missense 17/23 - 3
17-41215931-A-T c.5112T>A p.F1704L Missense 17/23 - 2
17-41215931-A-C c.5112T>G p.F1704L Missense 17/23 - 3
17-41215933-A-T c.5110T>A p.F1704I Missense 17/23 - 2
17-41215933-A-C c.5110T>G p.F1704V Missense 17/23 - 1
17-41215934-A-C c.5109T>G p.Y1703* Nonsense 17/23 - 1
17-41215935-T-C c.5108A>G p.Y1703C Missense 17/23 - 5
17-41215935-T-G c.5108A>C p.Y1703S Missense 17/23 - 4
17-41215935-T-A c.5108A>T p.Y1703F Missense 17/23 - 2
17-41215936-A-G c.5107T>C p.Y1703H Missense 17/23 - 2
17-41215936-A-T c.5107T>A p.Y1703N Missense 17/23 - 1
17-41215936-A-C c.5107T>G p.Y1703D Missense 17/23 - 1
17-41215937-TT-CA c.5105_5106delinsTG p.K1702M Missense 17/23 - 7
17-41215937-T-G c.5106A>C p.K1702N Missense 17/23 - 2
17-41215937-T-A c.5106A>T p.K1702N Missense 17/23 - 2
17-41215938-TT-GC c.5104_5105delinsGC p.K1702A Missense 17/23 - 3
17-41215938-T-G c.5105A>C p.K1702T Missense 17/23 - 2
17-41215938-T-C c.5105A>G p.K1702R Missense 17/23 - 1
17-41215938-T-A c.5105A>T p.K1702I Missense 17/23 - 1
17-41215939-T-C c.5104A>G p.K1702E Missense 17/23 - 2
17-41215939-T-G c.5104A>C p.K1702Q Missense 17/23 - 2
17-41215940-TCA-T c.5102_5103del p.L1701Qfs*14 Frameshift 17/23 - 4
17-41215938-TTCAG-T c.5101_5104del p.L1701Nfs*4 Frameshift 17/23 - 1
17-41215941-A-T c.5102T>A p.L1701Q Missense 17/23 - 1
17-41215941-A-C c.5102T>G p.L1701R Missense 17/23 - 1
17-41215941-A-G c.5102T>C p.L1701P Missense 17/23 - 1
17-41215942-G-T c.5101C>A p.L1701M Missense 17/23 - 2
17-41215942-G-C c.5101C>G p.L1701V Missense 17/23 - 1
17-41215942-G-A c.5101C>T p.L1701= Synonymous 17/23 - 1
17-41215943-T-C c.5100A>G p.T1700= Synonymous 17/23 - 2
17-41215943-T-A c.5100A>T p.T1700= Synonymous 17/23 - 1
17-41215943-T-G c.5100A>C p.T1700= Synonymous 17/23 - 1
17-41215944-G-T c.5099C>A p.T1700K Missense 17/23 - 1
17-41215944-G-C c.5099C>G p.T1700R Missense 17/23 - 1
17-41215944-G-A c.5099C>T p.T1700I Missense 17/23 - 2
17-41215945-T-C c.5098A>G p.T1700A Missense 17/23 - 8
17-41215945-T-G c.5098A>C p.T1700P Missense 17/23 - 1
17-41215945-GT-G c.5098del p.T1700Hfs*2 Frameshift 17/23 - 1
17-41215946-CCG-GTT c.5095_5097delinsAAC p.R1699N Missense 17/23 - 1
17-41215946-CC-AT c.5096_5097delinsAT p.R1699H Missense 17/23 - 1
17-41215946-CCG-AAA c.5095_5097delinsTTT p.R1699F Missense 17/23 - 1
17-41215946-CCG-GAT c.5095_5097delinsATC p.R1699I Missense 17/23 - 1
17-41215947-C-T c.5096G>A p.R1699Q Missense 17/23 - 97
17-41215947-C-A c.5096G>T p.R1699L Missense 17/23 - 12
17-41215947-C-G c.5096G>C p.R1699P Missense 17/23 - 7
17-41215947-CG-TC c.5095_5096delinsGA p.R1699E Missense 17/23 - 1
17-41215947-CG-TT c.5095_5096delinsAA p.R1699K Missense 17/23 - 1
17-41215948-G-A c.5095C>T p.R1699W Missense 17/23 - 114
17-41215948-G-T c.5095C>A p.R1699= Synonymous 17/23 - 2
17-41215946-CCGTT-C c.5093_5096del p.E1698Gfs*3 Frameshift 17/23 - 1
17-41215948-G-C c.5095C>G p.R1699G Missense 17/23 - 3
17-41215949-T-G c.5094A>C p.E1698D Missense 17/23 - 1
17-41215949-T-A c.5094A>T p.E1698D Missense 17/23 - 1
17-41215950-T-G c.5093A>C p.E1698A Missense 17/23 - 2
17-41215950-T-C c.5093A>G p.E1698G Missense 17/23 - 1
17-41215950-T-A c.5093A>T p.E1698V Missense 17/23 - 1
17-41215950-TC-CT c.5092_5093delinsAG p.E1698R Missense 17/23 - 1
17-41215951-C-T c.5092G>A p.E1698K Missense 17/23 - 1
17-41215951-C-G c.5092G>C p.E1698Q Missense 17/23 - 1
17-41215952-A-C c.5091T>G p.C1697W Missense 17/23 - 1
17-41215953-C-G c.5090G>C p.C1697S Missense 17/23 - 2
17-41215953-C-T c.5090G>A p.C1697Y Missense 17/23 - 5
17-41215953-C-A c.5090G>T p.C1697F Missense 17/23 - 3
17-41215954-A-G c.5089T>C p.C1697R Missense 17/23 - 13
17-41215954-A-T c.5089T>A p.C1697S Missense 17/23 - 1
17-41215954-A-C c.5089T>G p.C1697G Missense 17/23 - 1
17-41215956-A-T c.5087T>A p.V1696E Missense 17/23 - 1
17-41215956-A-G c.5087T>C p.V1696A Missense 17/23 - 1
17-41215956-A-C c.5087T>G p.V1696G Missense 17/23 - 1
17-41215957-C-T c.5086G>A p.V1696M Missense 17/23 - 2
17-41215957-C-G c.5086G>C p.V1696L Missense 17/23 - 6
17-41215957-C-A c.5086G>T p.V1696L Missense 17/23 - 3
17-41215950-TCA-T c.5091_5092del p.C1697* Frameshift 17/23 - 1
17-41215958-A-T c.5085T>A p.F1695L Missense 17/23 - 7
17-41215958-A-C c.5085T>G p.F1695L Missense 17/23 - 2
17-41215957-CAA-C c.5084_5085del p.F1695Cfs*3 Frameshift 17/23 - 2
17-41215959-A-T c.5084T>A p.F1695Y Missense 17/23 - 1
17-41215959-A-G c.5084T>C p.F1695S Missense 17/23 - 1
17-41215959-A-C c.5084T>G p.F1695C Missense 17/23 - 1
17-41215957-C-CA c.5085dup p.V1696Cfs*3 Frameshift 17/23 - 1
17-41215960-A-G c.5083T>C p.F1695L Missense 17/23 - 2
17-41215960-A-C c.5083T>G p.F1695V Missense 17/23 - 1
17-41215961-C-G c.5082G>C p.E1694D Missense 17/23 - 1
17-41215961-C-A c.5082G>T p.E1694D Missense 17/23 - 1
17-41215961-CTCAGC-TTGAAGGATAAA c.5077_5082delinsTTTATCCTTCAA p.A1693_E1694delinsFILQ MultiAAMissense 17/23 - 1
17-41215962-T-G c.5081A>C p.E1694A Missense 17/23 - 1
17-41215962-T-C c.5081A>G p.E1694G Missense 17/23 - 2
17-41215962-T-A c.5081A>T p.E1694V Missense 17/23 - 1
17-41215962-T-TG c.5080_5081insC p.E1694Afs*5 Frameshift 17/23 - 1
17-41215963-C-A c.5080G>T p.E1694* Nonsense 17/23 - 27
17-41215963-C-T c.5080G>A p.E1694K Missense 17/23 - 3
17-41215963-C-G c.5080G>C p.E1694Q Missense 17/23 - 1
17-41215965-G-T c.5078C>A p.A1693D Missense 17/23 - 2
17-41215965-G-A c.5078C>T p.A1693V Missense 17/23 - 2
17-41215962-TCAG-T c.5078_5080del p.A1693del InFrameDeletion 17/23 - 3
17-41215965-G-GAATGA c.5077_5078insTCATT p.A1693Vfs*11 Frameshift 17/23 - 1
17-41215966-C-T c.5077G>A p.A1693T Missense 17/23 - 1
17-41215966-C-G c.5077G>C p.A1693P Missense 17/23 - 1
17-41215966-C-A c.5077G>T p.A1693S Missense 17/23 - 1
17-41215967-A-T c.5076T>A p.D1692E Missense 17/23 - 1
17-41215968-T-G c.5075A>C p.D1692A Missense 17/23 - 4
17-41215968-T-C c.5075A>G p.D1692G Missense 17/23 - 1
17-41215968-T-A c.5075A>T p.D1692V Missense 17/23 - 1
17-41215969-C-G c.5075-1G>C - IntronicSNV - 16/22 1
17-41215969-C-A c.5075-1G>T - IntronicSNV - 16/22 1
17-41215969-C-T c.5075-1G>A - IntronicSNV - 16/22 1
17-41216021-G-A c.5075-53C>T - IntronicSNV - 16/22 5
17-41216205-G-T c.5075-237C>A - IntronicSNV - 16/22 6
17-41216206-T-C c.5075-238A>G - IntronicSNV - 16/22 1
17-41217874-C-T c.5074+1751G>A - IntronicSNV - 16/22 2
17-41218678-AGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTT-A c.5074+888_5074+946del - Unclassified - 16/22 1
17-41218747-C-T c.5074+878G>A - IntronicSNV - 16/22 1
17-41219341-G-T c.5074+284C>A - IntronicSNV - 16/22 1
17-41219551-CATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAA-C c.5074+16_5074+74del - Unclassified - 16/22 1
17-41219560-C-A c.5074+65G>T - IntronicSNV - 16/22 3
17-41219560-C-T c.5074+65G>A - IntronicSNV - 16/22 3
17-41219597-A-T c.5074+28T>A - IntronicSNV - 16/22 1
17-41219602-T-A c.5074+23A>T - IntronicSNV - 16/22 1
17-41219602-T-C c.5074+23A>G - IntronicSNV - 16/22 1
17-41219619-G-C c.5074+6C>G - IntronicSNV - 16/22 5
17-41219621-TATACC-T c.5074_5074+4del - SpliceDonorDeletion 16/23 16/22 1
17-41219622-T-C c.5074+3A>G - IntronicSNV - 16/22 3
17-41219622-T-G c.5074+3A>C - IntronicSNV - 16/22 2
17-41219623-A-G c.5074+2T>C - IntronicSNV - 16/22 6
17-41219624-C-A c.5074+1G>T - IntronicSNV - 16/22 13
17-41219624-C-G c.5074+1G>C - IntronicSNV - 16/22 1
17-41219624-C-T c.5074+1G>A - IntronicSNV - 16/22 8
17-41219625-C-T c.5074G>A p.D1692N Missense 16/23 - 19
17-41219625-C-G c.5074G>C p.D1692H Missense 16/23 - 13
17-41219625-C-A c.5074G>T p.D1692Y Missense 16/23 - 6
17-41219626-T-C c.5073A>G p.T1691= Synonymous 16/23 - 3
17-41219626-T-A c.5073A>T p.T1691= Synonymous 16/23 - 4
17-41219626-T-G c.5073A>C p.T1691= Synonymous 16/23 - 3
17-41219625-C-CT c.5073dup p.D1692Rfs*3 SpliceDonorInsertion 16/23 - 2
17-41219627-G-A c.5072C>T p.T1691I Missense 16/23 - 10
17-41219627-G-T c.5072C>A p.T1691K Missense 16/23 - 20
17-41219627-G-C c.5072C>G p.T1691R Missense 16/23 - 1
17-41219627-TGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTG-T c.5014_5072del p.H1672Rfs*3 InFrameDeletion 16/23 - 2
17-41219628-T-G c.5071A>C p.T1691P Missense 16/23 - 1
17-41219628-T-A c.5071A>T p.T1691S Missense 16/23 - 1
17-41219628-GTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGT-G c.5013_5071del p.K1671Nfs*4 Unclassified 16/23 - 1
17-41219628-T-C c.5071A>G p.T1691A Missense 16/23 - 1
17-41219629-T-G c.5070A>C p.K1690N Missense 16/23 - 2
17-41219629-T-A c.5070A>T p.K1690N Missense 16/23 - 2
17-41219630-T-C c.5069A>G p.K1690R Missense 16/23 - 1
17-41219631-T-G c.5068A>C p.K1690Q Missense 16/23 - 8
17-41219631-T-C c.5068A>G p.K1690E Missense 16/23 - 1
17-41219631-T-A c.5068A>T p.K1690* Nonsense 16/23 - 2
17-41219632-C-T c.5067G>A p.M1689I Missense 16/23 - 1
17-41219632-C-G c.5067G>C p.M1689I Missense 16/23 - 1
17-41219632-C-A c.5067G>T p.M1689I Missense 16/23 - 1
17-41219633-A-C c.5066T>G p.M1689R Missense 16/23 - 11
17-41219633-A-G c.5066T>C p.M1689T Missense 16/23 - 7
17-41219633-A-T c.5066T>A p.M1689K Missense 16/23 - 1
17-41219633-A-AT c.5065dup p.M1689Nfs*6 Frameshift 16/23 - 1
17-41219634-T-G c.5065A>C p.M1689L Missense 16/23 - 1
17-41219634-T-A c.5065A>T p.M1689L Missense 16/23 - 1
17-41219634-T-C c.5065A>G p.M1689V Missense 16/23 - 1
17-41219636-A-T c.5063T>A p.V1688D Missense 16/23 - 1
17-41219636-A-G c.5063T>C p.V1688A Missense 16/23 - 1
17-41219636-A-C c.5063T>G p.V1688G Missense 16/23 - 1
17-41219637-C-T c.5062G>A p.V1688I Missense 16/23 - 2
17-41219637-C-G c.5062G>C p.V1688L Missense 16/23 - 1
17-41219637-C-A c.5062G>T p.V1688F Missense 16/23 - 2
17-41219634-TAAC-T c.5062_5064del p.V1688del InFrameDeletion 16/23 - 32
17-41219639-A-C c.5060T>G p.V1687G Missense 16/23 - 3
17-41219639-A-T c.5060T>A p.V1687D Missense 16/23 - 1
17-41219639-A-G c.5060T>C p.V1687A Missense 16/23 - 1
17-41219640-AC-A c.5059del p.V1687Lfs*3 Frameshift 16/23 - 2
17-41219640-C-T c.5059G>A p.V1687I Missense 16/23 - 1
17-41219640-C-G c.5059G>C p.V1687L Missense 16/23 - 1
17-41219640-C-A c.5059G>T p.V1687F Missense 16/23 - 1
17-41219641-A-T c.5058T>A p.H1686Q Missense 16/23 - 4
17-41219641-A-C c.5058T>G p.H1686Q Missense 16/23 - 2
17-41219641-A-G c.5058T>C p.H1686= Synonymous 16/23 - 1
17-41219642-T-C c.5057A>G p.H1686R Missense 16/23 - 6
17-41219642-T-G c.5057A>C p.H1686P Missense 16/23 - 2
17-41219642-T-A c.5057A>T p.H1686L Missense 16/23 - 1
17-41219643-G-A c.5056C>T p.H1686Y Missense 16/23 - 3
17-41219643-G-T c.5056C>A p.H1686N Missense 16/23 - 1
17-41219643-G-C c.5056C>G p.H1686D Missense 16/23 - 1
17-41219645-G-A c.5054C>T p.T1685I Missense 16/23 - 24
17-41219645-G-C c.5054C>G p.T1685S Missense 16/23 - 1
17-41219645-G-T c.5054C>A p.T1685N Missense 16/23 - 1
17-41219646-T-C c.5053A>G p.T1685A Missense 16/23 - 15
17-41219646-T-G c.5053A>C p.T1685P Missense 16/23 - 1
17-41219646-T-A c.5053A>T p.T1685S Missense 16/23 - 1
17-41219648-G-A c.5051C>T p.T1684I Missense 16/23 - 1
17-41219648-GT-CC c.5050_5051delinsGG p.T1684G Missense 16/23 - 1
17-41219649-T-G c.5050A>C p.T1684P Missense 16/23 - 1
17-41219649-T-C c.5050A>G p.T1684A Missense 16/23 - 1
17-41219649-T-A c.5050A>T p.T1684S Missense 16/23 - 1
17-41219650-C-G c.5049G>C p.E1683D Missense 16/23 - 1
17-41219650-C-A c.5049G>T p.E1683D Missense 16/23 - 1
17-41219651-T-G c.5048A>C p.E1683A Missense 16/23 - 1
17-41219651-T-A c.5048A>T p.E1683V Missense 16/23 - 1
17-41219652-C-G c.5047G>C p.E1683Q Missense 16/23 - 3
17-41219652-C-T c.5047G>A p.E1683K Missense 16/23 - 1
17-41219652-C-A c.5047G>T p.E1683* Nonsense 16/23 - 3
17-41219653-T-G c.5046A>C p.E1682D Missense 16/23 - 1
17-41219654-T-G c.5045A>C p.E1682A Missense 16/23 - 1
17-41219654-T-C c.5045A>G p.E1682G Missense 16/23 - 1
17-41219654-T-A c.5045A>T p.E1682V Missense 16/23 - 2
17-41219655-C-T c.5044G>A p.E1682K Missense 16/23 - 10
17-41219657-G-C c.5042C>G p.T1681S Missense 16/23 - 1
17-41219657-G-T c.5042C>A p.T1681N Missense 16/23 - 1
17-41219658-T-G c.5041A>C p.T1681P Missense 16/23 - 1
17-41219658-T-C c.5041A>G p.T1681A Missense 16/23 - 1
17-41219658-T-A c.5041A>T p.T1681S Missense 16/23 - 1
17-41219659-A-C c.5040T>G p.I1680M Missense 16/23 - 1
17-41219657-GTAAT-G c.5038_5041del p.I1680Lfs*9 Frameshift 16/23 - 1
17-41219660-A-T c.5039T>A p.I1680N Missense 16/23 - 1
17-41219660-A-G c.5039T>C p.I1680T Missense 16/23 - 1
17-41219660-A-C c.5039T>G p.I1680S Missense 16/23 - 1
17-41219661-T-G c.5038A>C p.I1680L Missense 16/23 - 1
17-41219661-T-C c.5038A>G p.I1680V Missense 16/23 - 2
17-41219661-T-A c.5038A>T p.I1680F Missense 16/23 - 1
17-41219663-AG-TA c.5035_5036delinsTA p.L1679* Nonsense 16/23 - 1
17-41219663-A-G c.5036T>C p.L1679P Missense 16/23 - 2
17-41219663-A-T c.5036T>A p.L1679Q Missense 16/23 - 3
17-41219663-A-C c.5036T>G p.L1679R Missense 16/23 - 1
17-41219664-AG-A c.5035del p.L1679* Frameshift 16/23 - 3
17-41219664-G-T c.5035C>A p.L1679I Missense 16/23 - 1
17-41219664-G-C c.5035C>G p.L1679V Missense 16/23 - 1
17-41219659-AATTAG-A c.5035_5039del p.L1679Yfs*2 Frameshift 16/23 - 5
17-41219665-A-T c.5034T>A p.N1678K Missense 16/23 - 1
17-41219665-A-C c.5034T>G p.N1678K Missense 16/23 - 1
17-41219665-AT-GCTAAACTCAAGGA c.5033_5034delinsTCCTTGAGTTTAGC p.N1678delinsILEFS MultiAAMissense 16/23 - 1
17-41219666-T-G c.5033A>C p.N1678T Missense 16/23 - 1
17-41219666-T-C c.5033A>G p.N1678S Missense 16/23 - 1
17-41219666-T-A c.5033A>T p.N1678I Missense 16/23 - 1
17-41219666-TT-GC c.5032_5033delinsGC p.N1678A Missense 16/23 - 1
17-41219665-AT-A c.5033del p.N1678Ifs*2 Frameshift 16/23 - 1
17-41219667-T-G c.5032A>C p.N1678H Missense 16/23 - 1
17-41219667-T-C c.5032A>G p.N1678D Missense 16/23 - 1
17-41219667-T-A c.5032A>T p.N1678Y Missense 16/23 - 1
17-41219668-A-T c.5031T>A p.T1677= Synonymous 16/23 - 1
17-41219668-A-C c.5031T>G p.T1677= Synonymous 16/23 - 1
17-41219668-A-G c.5031T>C p.T1677= Synonymous 16/23 - 1
17-41219665-ATTAG-A c.5030_5033del p.T1677Ifs*2 Frameshift 16/23 - 41
17-41219669-G-C c.5030C>G p.T1677S Missense 16/23 - 1
17-41219669-G-T c.5030C>A p.T1677N Missense 16/23 - 1
17-41219670-T-G c.5029A>C p.T1677P Missense 16/23 - 1
17-41219670-T-C c.5029A>G p.T1677A Missense 16/23 - 1
17-41219670-T-A c.5029A>T p.T1677S Missense 16/23 - 1
17-41219671-T-G c.5028A>C p.L1676F Missense 16/23 - 1
17-41219671-T-A c.5028A>T p.L1676F Missense 16/23 - 1
17-41219673-A-T c.5026T>A p.L1676I Missense 16/23 - 1
17-41219673-A-C c.5026T>G p.L1676V Missense 16/23 - 1
17-41219671-TAA-T c.5026_5027del p.L1676Nfs*2 Frameshift 16/23 - 1
17-41219674-A-T c.5025T>A p.T1675= Synonymous 16/23 - 1
17-41219674-A-C c.5025T>G p.T1675= Synonymous 16/23 - 1
17-41219674-A-G c.5025T>C p.T1675= Synonymous 16/23 - 1
17-41219671-T-TA c.5027dup p.L1676Ffs*3 Frameshift 16/23 - 1
17-41219671-TA-T c.5027del p.L1676* Frameshift 16/23 - 1
17-41219675-G-A c.5024C>T p.T1675I Missense 16/23 - 4
17-41219675-G-T c.5024C>A p.T1675N Missense 16/23 - 1
17-41219675-G-C c.5024C>G p.T1675S Missense 16/23 - 1
17-41219676-T-G c.5023A>C p.T1675P Missense 16/23 - 1
17-41219676-T-C c.5023A>G p.T1675A Missense 16/23 - 1
17-41219676-T-A c.5023A>T p.T1675S Missense 16/23 - 2
17-41219677-G-A c.5022C>T p.I1674= Synonymous 16/23 - 2
17-41219678-A-G c.5021T>C p.I1674T Missense 16/23 - 2
17-41219679-T-G c.5020A>C p.I1674L Missense 16/23 - 1
17-41219679-T-C c.5020A>G p.I1674V Missense 16/23 - 1
17-41219680-G-T c.5019C>A p.H1673Q Missense 16/23 - 1
17-41219680-G-C c.5019C>G p.H1673Q Missense 16/23 - 1
17-41219681-T-G c.5018A>C p.H1673P Missense 16/23 - 1
17-41219681-T-C c.5018A>G p.H1673R Missense 16/23 - 1
17-41219681-T-A c.5018A>T p.H1673L Missense 16/23 - 1
17-41219682-G-T c.5017C>A p.H1673N Missense 16/23 - 1
17-41219682-G-C c.5017C>G p.H1673D Missense 16/23 - 1
17-41219682-G-A c.5017C>T p.H1673Y Missense 16/23 - 1
17-41219679-TGTG-T c.5017_5019del p.H1673del InFrameDeletion 16/23 - 7
17-41219683-G-T c.5016C>A p.H1672Q Missense 16/23 - 1
17-41219683-G-C c.5016C>G p.H1672Q Missense 16/23 - 1
17-41219684-T-G c.5015A>C p.H1672P Missense 16/23 - 1
17-41219684-T-C c.5015A>G p.H1672R Missense 16/23 - 1
17-41219684-T-A c.5015A>T p.H1672L Missense 16/23 - 1
17-41219685-G-T c.5014C>A p.H1672N Missense 16/23 - 1
17-41219685-G-A c.5014C>T p.H1672Y Missense 16/23 - 1
17-41219686-T-G c.5013A>C p.K1671N Missense 16/23 - 1
17-41219686-T-A c.5013A>T p.K1671N Missense 16/23 - 1
17-41219687-T-G c.5012A>C p.K1671T Missense 16/23 - 1
17-41219687-T-C c.5012A>G p.K1671R Missense 16/23 - 1
17-41219687-T-A c.5012A>T p.K1671I Missense 16/23 - 1
17-41219688-T-G c.5011A>C p.K1671Q Missense 16/23 - 1
17-41219688-T-C c.5011A>G p.K1671E Missense 16/23 - 2
17-41219689-T-G c.5010A>C p.R1670S Missense 16/23 - 1
17-41219690-C-T c.5009G>A p.R1670K Missense 16/23 - 3
17-41219690-C-A c.5009G>T p.R1670I Missense 16/23 - 1
17-41219690-CT-TC c.5008_5009delinsGA p.R1670E Missense 16/23 - 1
17-41219691-T-C c.5008A>G p.R1670G Missense 16/23 - 1
17-41219693-G-C c.5006C>G p.A1669G Missense 16/23 - 1
17-41219693-G-A c.5006C>T p.A1669V Missense 16/23 - 2
17-41219694-C-A c.5005G>T p.A1669S Missense 16/23 - 15
17-41219694-C-T c.5005G>A p.A1669T Missense 16/23 - 1
17-41219694-C-G c.5005G>C p.A1669P Missense 16/23 - 2
17-41219695-A-T c.5004T>A p.F1668L Missense 16/23 - 1
17-41219695-A-C c.5004T>G p.F1668L Missense 16/23 - 1
17-41219696-A-T c.5003T>A p.F1668Y Missense 16/23 - 1
17-41219696-A-G c.5003T>C p.F1668S Missense 16/23 - 2
17-41219696-A-C c.5003T>G p.F1668C Missense 16/23 - 2
17-41219697-A-T c.5002T>A p.F1668I Missense 16/23 - 1
17-41219697-A-G c.5002T>C p.F1668L Missense 16/23 - 2
17-41219697-A-C c.5002T>G p.F1668V Missense 16/23 - 1
17-41219698-C-G c.5001G>C p.K1667N Missense 16/23 - 1
17-41219699-T-G c.5000A>C p.K1667T Missense 16/23 - 1
17-41219699-T-C c.5000A>G p.K1667R Missense 16/23 - 3
17-41219699-T-A c.5000A>T p.K1667M Missense 16/23 - 1
17-41219700-T-TTG c.4998_4999insCA p.K1667Qfs*11 Frameshift 16/23 - 1
17-41219700-T-G c.4999A>C p.K1667Q Missense 16/23 - 1
17-41219700-T-C c.4999A>G p.K1667E Missense 16/23 - 1
17-41219698-C-CT c.5000dup p.F1668Vfs*11 Frameshift 16/23 - 1
17-41219701-G-T c.4998C>A p.Y1666* Nonsense 16/23 - 2
17-41219701-G-C c.4998C>G p.Y1666* Nonsense 16/23 - 1
17-41219701-G-GT c.4997dup p.Y1666* Nonsense 16/23 - 2
17-41219702-T-G c.4997A>C p.Y1666S Missense 16/23 - 1
17-41219702-T-C c.4997A>G p.Y1666C Missense 16/23 - 1
17-41219702-T-A c.4997A>T p.Y1666F Missense 16/23 - 1
17-41219702-TA-GC c.4996_4997delinsGC p.Y1666A Missense 16/23 - 1
17-41219703-A-T c.4996T>A p.Y1666N Missense 16/23 - 1
17-41219703-A-G c.4996T>C p.Y1666H Missense 16/23 - 1
17-41219703-A-C c.4996T>G p.Y1666D Missense 16/23 - 1
17-41219705-A-T c.4994T>A p.V1665E Missense 16/23 - 2
17-41219705-A-G c.4994T>C p.V1665A Missense 16/23 - 2
17-41219705-A-C c.4994T>G p.V1665G Missense 16/23 - 2
17-41219705-AC-GA c.4993_4994delinsTC p.V1665S Missense 16/23 - 1
17-41219706-C-G c.4993G>C p.V1665L Missense 16/23 - 3
17-41219706-C-T c.4993G>A p.V1665M Missense 16/23 - 13
17-41219706-C-CT c.4992_4993insA p.V1665Sfs*14 Frameshift 16/23 - 2
17-41219706-C-A c.4993G>T p.V1665L Missense 16/23 - 1
17-41219707-G-A c.4992C>T p.L1664= Synonymous 16/23 - 2
17-41219708-A-T c.4991T>A p.L1664H Missense 16/23 - 1
17-41219708-A-G c.4991T>C p.L1664P Missense 16/23 - 9
17-41219708-A-C c.4991T>G p.L1664R Missense 16/23 - 1
17-41219709-G-T c.4990C>A p.L1664I Missense 16/23 - 1
17-41219709-G-C c.4990C>G p.L1664V Missense 16/23 - 1
17-41219709-G-A c.4990C>T p.L1664F Missense 16/23 - 1
17-41219710-C-G c.4989G>C p.M1663I Missense 16/23 - 2
17-41219710-C-A c.4989G>T p.M1663I Missense 16/23 - 2
17-41219710-C-T c.4989G>A p.M1663I Missense 16/23 - 1
17-41219711-A-T c.4988T>A p.M1663K Missense 16/23 - 6
17-41219712-T-A c.4987A>T p.M1663L Missense 16/23 - 4
17-41219712-T-G c.4987A>C p.M1663L Missense 16/23 - 1
17-41219717-A-T c.4987-5T>A - IntronicSNV - 15/22 1
17-41219717-A-G c.4987-5T>C - IntronicSNV - 15/22 1
17-41219780-T-C c.4987-68A>G - IntronicSNV - 15/22 2
17-41219804-T-C c.4987-92A>G - IntronicSNV - 15/22 4
17-41222723-T-C c.4986+222A>G - IntronicSNV - 15/22 1
17-41222877-T-C c.4986+68A>G - IntronicSNV - 15/22 1
17-41222932-T-C c.4986+13A>G - IntronicSNV - 15/22 1
17-41222939-A-G c.4986+6T>C - IntronicSNV - 15/22 8
17-41222939-A-C c.4986+6T>G - IntronicSNV - 15/22 6
17-41222940-C-T c.4986+5G>A - IntronicSNV - 15/22 4
17-41222941-T-G c.4986+4A>C - IntronicSNV - 15/22 1
17-41222941-T-C c.4986+4A>G - IntronicSNV - 15/22 1
17-41222942-C-G c.4986+3G>C - IntronicSNV - 15/22 3
17-41222942-C-T c.4986+3G>A - IntronicSNV - 15/22 1
17-41222944-C-A c.4986+1G>T - IntronicSNV - 15/22 1
17-41222944-C-T c.4986+1G>A - IntronicSNV - 15/22 1
17-41222945-A-G c.4986T>C p.F1662= Synonymous 15/23 - 1
17-41222946-A-G c.4985T>C p.F1662S Missense 15/23 - 14
17-41222946-A-C c.4985T>G p.F1662C Missense 15/23 - 1
17-41222947-A-T c.4984T>A p.F1662I Missense 15/23 - 1
17-41222947-A-G c.4984T>C p.F1662L Missense 15/23 - 1
17-41222947-A-C c.4984T>G p.F1662V Missense 15/23 - 1
17-41222948-TTC-GTT c.4981_4983delinsAAC p.E1661N Missense 15/23 - 1
17-41222948-T-G c.4983A>C p.E1661D Missense 15/23 - 1
17-41222948-T-A c.4983A>T p.E1661D Missense 15/23 - 1
17-41222949-TTCTTCTGGGGTCAGGCCAG-T c.4964_4982del p.S1655Yfs*16 Frameshift 15/23 - 28
17-41222949-T-G c.4982A>C p.E1661A Missense 15/23 - 1
17-41222949-T-A c.4982A>T p.E1661V Missense 15/23 - 1
17-41222950-C-A c.4981G>T p.E1661* Nonsense 15/23 - 7
17-41222950-C-T c.4981G>A p.E1661K Missense 15/23 - 2
17-41222950-C-G c.4981G>C p.E1661Q Missense 15/23 - 1
17-41222951-T-G c.4980A>C p.E1660D Missense 15/23 - 1
17-41222951-T-A c.4980A>T p.E1660D Missense 15/23 - 1
17-41222952-T-C c.4979A>G p.E1660G Missense 15/23 - 2
17-41222952-T-G c.4979A>C p.E1660A Missense 15/23 - 1
17-41222952-T-A c.4979A>T p.E1660V Missense 15/23 - 3
17-41222953-C-T c.4978G>A p.E1660K Missense 15/23 - 1
17-41222953-C-G c.4978G>C p.E1660Q Missense 15/23 - 1
17-41222955-G-T c.4976C>A p.P1659Q Missense 15/23 - 1
17-41222955-G-C c.4976C>G p.P1659R Missense 15/23 - 1
17-41222955-G-A c.4976C>T p.P1659L Missense 15/23 - 1
17-41222955-GG-CC c.4975_4976inv p.P1659G Missense 15/23 - 1
17-41222956-G-T c.4975C>A p.P1659T Missense 15/23 - 1
17-41222956-G-C c.4975C>G p.P1659A Missense 15/23 - 1
17-41222956-G-A c.4975C>T p.P1659S Missense 15/23 - 1
17-41222958-G-T c.4973C>A p.T1658N Missense 15/23 - 1
17-41222959-T-C c.4972A>G p.T1658A Missense 15/23 - 1
17-41222959-T-A c.4972A>T p.T1658S Missense 15/23 - 1
17-41222959-GT-G c.4972del p.T1658Pfs*19 Frameshift 15/23 - 2
17-41222960-C-A c.4971G>T p.L1657= Synonymous 15/23 - 1
17-41222960-C-T c.4971G>A p.L1657= Synonymous 15/23 - 1
17-41222960-C-G c.4971G>C p.L1657= Synonymous 15/23 - 1
17-41222962-G-A c.4969C>T p.L1657= Synonymous 15/23 - 1
17-41222961-A-G c.4970T>C p.L1657P Missense 15/23 - 3
17-41222961-A-T c.4970T>A p.L1657Q Missense 15/23 - 1
17-41222961-A-C c.4970T>G p.L1657R Missense 15/23 - 1
17-41222962-G-GAC c.4968_4969insGT p.L1657Vfs*2 Frameshift 15/23 - 1
17-41222962-G-T c.4969C>A p.L1657M Missense 15/23 - 1
17-41222962-G-C c.4969C>G p.L1657V Missense 15/23 - 1
17-41222964-C-T c.4967G>A p.G1656D Missense 15/23 - 6
17-41222964-C-G c.4967G>C p.G1656A Missense 15/23 - 2
17-41222964-C-A c.4967G>T p.G1656V Missense 15/23 - 1
17-41222965-C-T c.4966G>A p.G1656S Missense 15/23 - 2
17-41222965-C-G c.4966G>C p.G1656R Missense 15/23 - 2
17-41222965-C-A c.4966G>T p.G1656C Missense 15/23 - 1
17-41222967-G-A c.4964C>T p.S1655F Missense 15/23 - 26
17-41222967-G-T c.4964C>A p.S1655Y Missense 15/23 - 2
17-41222967-G-C c.4964C>G p.S1655C Missense 15/23 - 1
17-41222967-AG-A c.4964del p.S1655Lfs*3 Frameshift 15/23 - 2
17-41222968-A-G c.4963T>C p.S1655P Missense 15/23 - 7
17-41222968-A-C c.4963T>G p.S1655A Missense 15/23 - 13
17-41222968-GA-G c.4963del p.S1655Lfs*3 Frameshift 15/23 - 1
17-41222968-A-T c.4963T>A p.S1655T Missense 15/23 - 2
17-41222970-A-G c.4961T>C p.V1654A Missense 15/23 - 1
17-41222970-A-C c.4961T>G p.V1654G Missense 15/23 - 1
17-41222971-C-T c.4960G>A p.V1654M Missense 15/23 - 1
17-41222971-C-G c.4960G>C p.V1654L Missense 15/23 - 1
17-41222971-C-A c.4960G>T p.V1654L Missense 15/23 - 1
17-41222970-AC-A c.4960del p.V1654Cfs*4 Frameshift 15/23 - 1
17-41222973-A-T c.4958T>A p.V1653E Missense 15/23 - 1
17-41222973-A-G c.4958T>C p.V1653A Missense 15/23 - 1
17-41222973-A-C c.4958T>G p.V1653G Missense 15/23 - 1
17-41222973-A-AG c.4957_4958insC p.V1653Afs*26 Frameshift 15/23 - 2
17-41222974-C-A c.4957G>T p.V1653L Missense 15/23 - 4
17-41222974-C-T c.4957G>A p.V1653M Missense 15/23 - 7
17-41222974-C-G c.4957G>C p.V1653L Missense 15/23 - 1
17-41222975-C-G c.4956G>C p.M1652I Missense 15/23 - 4
17-41222975-C-T c.4956G>A p.M1652I Missense 15/23 - 56
17-41222975-C-A c.4956G>T p.M1652I Missense 15/23 - 4
17-41222976-A-G c.4955T>C p.M1652T Missense 15/23 - 12
17-41222976-A-T c.4955T>A p.M1652K Missense 15/23 - 6
17-41222976-A-C c.4955T>G p.M1652R Missense 15/23 - 1
17-41222976-AT-CA c.4954_4955delinsTG p.M1652W Missense 15/23 - 1
17-41222977-T-G c.4954A>C p.M1652L Missense 15/23 - 1
17-41222977-T-A c.4954A>T p.M1652L Missense 15/23 - 1
17-41222977-T-C c.4954A>G p.M1652V Missense 15/23 - 1
17-41222979-G-A c.4952C>T p.S1651F Missense 15/23 - 5
17-41222979-G-T c.4952C>A p.S1651Y Missense 15/23 - 2
17-41222979-G-C c.4952C>G p.S1651C Missense 15/23 - 2
17-41222979-GGACATTC-G c.4946_4952del p.R1649Tfs*7 Frameshift 15/23 - 2
17-41222980-A-G c.4951T>C p.S1651P Missense 15/23 - 6
17-41222980-A-T c.4951T>A p.S1651T Missense 15/23 - 1
17-41222980-A-C c.4951T>G p.S1651A Missense 15/23 - 2
17-41222981-C-T c.4950G>A p.M1650I Missense 15/23 - 1
17-41222981-C-G c.4950G>C p.M1650I Missense 15/23 - 1
17-41222981-C-A c.4950G>T p.M1650I Missense 15/23 - 1
17-41222982-A-G c.4949T>C p.M1650T Missense 15/23 - 3
17-41222982-A-T c.4949T>A p.M1650K Missense 15/23 - 2
17-41222982-A-C c.4949T>G p.M1650R Missense 15/23 - 2
17-41222983-T-G c.4948A>C p.M1650L Missense 15/23 - 2
17-41222983-T-A c.4948A>T p.M1650L Missense 15/23 - 2
17-41222983-T-C c.4948A>G p.M1650V Missense 15/23 - 3
17-41222984-T-G c.4947A>C p.R1649S Missense 15/23 - 2
17-41222984-T-A c.4947A>T p.R1649S Missense 15/23 - 2
17-41222984-TCT-AAAA c.4945_4947delinsTTTT p.R1649Ffs*30 Frameshift 15/23 - 1
17-41222985-C-T c.4946G>A p.R1649K Missense 15/23 - 2
17-41222985-C-G c.4946G>C p.R1649T Missense 15/23 - 2
17-41222985-C-A c.4946G>T p.R1649I Missense 15/23 - 2
17-41222986-T-C c.4945A>G p.R1649G Missense 15/23 - 2
17-41222987-T-G c.4944A>C p.K1648N Missense 15/23 - 2
17-41222987-T-A c.4944A>T p.K1648N Missense 15/23 - 2
17-41222988-T-G c.4943A>C p.K1648T Missense 15/23 - 2
17-41222988-T-C c.4943A>G p.K1648R Missense 15/23 - 2
17-41222988-T-A c.4943A>T p.K1648I Missense 15/23 - 2
17-41222989-T-A c.4942A>T p.K1648* Nonsense 15/23 - 5
17-41222989-T-G c.4942A>C p.K1648Q Missense 15/23 - 2
17-41222989-T-C c.4942A>G p.K1648E Missense 15/23 - 3
17-41222985-CT-C c.4945del p.R1649Efs*9 Frameshift 15/23 - 1
17-41222990-G-T c.4941C>A p.N1647K Missense 15/23 - 4
17-41222990-G-C c.4941C>G p.N1647K Missense 15/23 - 2
17-41222990-TG-T c.4941del p.N1647Kfs*11 Frameshift 15/23 - 1
17-41222990-G-A c.4941C>T p.N1647= Synonymous 15/23 - 1
17-41222991-T-A c.4940A>T p.N1647I Missense 15/23 - 1
17-41222991-T-G c.4940A>C p.N1647T Missense 15/23 - 1
17-41222991-T-C c.4940A>G p.N1647S Missense 15/23 - 1
17-41222991-TT-CC c.4939_4940delinsGG p.N1647G Missense 15/23 - 1
17-41222992-T-G c.4939A>C p.N1647H Missense 15/23 - 1
17-41222992-T-C c.4939A>G p.N1647D Missense 15/23 - 1
17-41222992-T-A c.4939A>T p.N1647Y Missense 15/23 - 1
17-41222992-TTGAC-T c.4936_4939del p.V1646Tfs*11 Frameshift 15/23 - 2
17-41222993-G-T c.4938C>A p.V1646= Synonymous 15/23 - 1
17-41222993-G-C c.4938C>G p.V1646= Synonymous 15/23 - 1
17-41222993-G-A c.4938C>T p.V1646= Synonymous 15/23 - 1
17-41222994-A-T c.4937T>A p.V1646D Missense 15/23 - 1
17-41222994-A-G c.4937T>C p.V1646A Missense 15/23 - 1
17-41222994-A-C c.4937T>G p.V1646G Missense 15/23 - 1
17-41222995-C-T c.4936G>A p.V1646I Missense 15/23 - 1
17-41222995-C-G c.4936G>C p.V1646L Missense 15/23 - 1
17-41222995-C-A c.4936G>T p.V1646F Missense 15/23 - 1
17-41222996-C-G c.4935G>C p.R1645S Missense 15/23 - 6
17-41222996-C-A c.4935G>T p.R1645S Missense 15/23 - 2
17-41222994-AC-A c.4936del p.V1646Sfs*12 Frameshift 15/23 - 3
17-41222997-C-T c.4934G>A p.R1645K Missense 15/23 - 1
17-41222997-C-G c.4934G>C p.R1645T Missense 15/23 - 2
17-41222997-C-A c.4934G>T p.R1645M Missense 15/23 - 1
17-41222998-T-C c.4933A>G p.R1645G Missense 15/23 - 2
17-41222998-T-A c.4933A>T p.R1645W Missense 15/23 - 1
17-41222999-T-G c.4932A>C p.E1644D Missense 15/23 - 1
17-41222999-T-A c.4932A>T p.E1644D Missense 15/23 - 1
17-41222997-CT-C c.4933del p.R1645Gfs*13 Frameshift 15/23 - 2
17-41223000-T-G c.4931A>C p.E1644A Missense 15/23 - 1
17-41223000-T-C c.4931A>G p.E1644G Missense 15/23 - 7
17-41223000-T-A c.4931A>T p.E1644V Missense 15/23 - 1
17-41223001-C-A c.4930G>T p.E1644* Nonsense 15/23 - 2
17-41223001-C-T c.4930G>A p.E1644K Missense 15/23 - 1
17-41223001-C-G c.4930G>C p.E1644Q Missense 15/23 - 1
17-41223003-G-T c.4928C>A p.T1643K Missense 15/23 - 1
17-41223003-G-C c.4928C>G p.T1643R Missense 15/23 - 1
17-41223003-G-A c.4928C>T p.T1643I Missense 15/23 - 1
17-41223004-T-G c.4927A>C p.T1643P Missense 15/23 - 1
17-41223004-T-C c.4927A>G p.T1643A Missense 15/23 - 1
17-41223004-T-A c.4927A>T p.T1643S Missense 15/23 - 1
17-41223006-G-A c.4925C>T p.S1642L Missense 15/23 - 2
17-41223007-A-T c.4924T>A p.S1642T Missense 15/23 - 1
17-41223007-A-G c.4924T>C p.S1642P Missense 15/23 - 2
17-41223007-A-C c.4924T>G p.S1642A Missense 15/23 - 1
17-41223008-A-T c.4923T>A p.A1641= Synonymous 15/23 - 1
17-41223008-A-G c.4923T>C p.A1641= Synonymous 15/23 - 1
17-41223008-A-C c.4923T>G p.A1641= Synonymous 15/23 - 1
17-41223009-G-T c.4922C>A p.A1641D Missense 15/23 - 1
17-41223009-G-C c.4922C>G p.A1641G Missense 15/23 - 1
17-41223009-G-A c.4922C>T p.A1641V Missense 15/23 - 1
17-41223010-C-T c.4921G>A p.A1641T Missense 15/23 - 2
17-41223010-C-G c.4921G>C p.A1641P Missense 15/23 - 1
17-41223012-G-T c.4919C>A p.T1640K Missense 15/23 - 1
17-41223012-G-C c.4919C>G p.T1640R Missense 15/23 - 1
17-41223012-G-A c.4919C>T p.T1640I Missense 15/23 - 2
17-41223013-T-G c.4918A>C p.T1640P Missense 15/23 - 1
17-41223013-T-C c.4918A>G p.T1640A Missense 15/23 - 2
17-41223013-T-A c.4918A>T p.T1640S Missense 15/23 - 1
17-41223014-C-G c.4917G>C p.L1639F Missense 15/23 - 1
17-41223014-C-A c.4917G>T p.L1639F Missense 15/23 - 1
17-41223015-A-G c.4916T>C p.L1639S Missense 15/23 - 1
17-41223015-A-C c.4916T>G p.L1639W Missense 15/23 - 1
17-41223016-A-T c.4915T>A p.L1639M Missense 15/23 - 1
17-41223016-A-C c.4915T>G p.L1639V Missense 15/23 - 1
17-41223017-T-G c.4914A>C p.E1638D Missense 15/23 - 1
17-41223017-T-A c.4914A>T p.E1638D Missense 15/23 - 1
17-41223018-T-G c.4913A>C p.E1638A Missense 15/23 - 1
17-41223018-T-C c.4913A>G p.E1638G Missense 15/23 - 1
17-41223018-T-A c.4913A>T p.E1638V Missense 15/23 - 1
17-41223019-C-T c.4912G>A p.E1638K Missense 15/23 - 1
17-41223019-C-G c.4912G>C p.E1638Q Missense 15/23 - 1
17-41223021-G-A c.4910C>T p.P1637L Missense 15/23 - 12
17-41223021-G-T c.4910C>A p.P1637Q Missense 15/23 - 2
17-41223021-G-C c.4910C>G p.P1637R Missense 15/23 - 1
17-41223022-G-T c.4909C>A p.P1637T Missense 15/23 - 1
17-41223022-G-C c.4909C>G p.P1637A Missense 15/23 - 1
17-41223022-G-A c.4909C>T p.P1637S Missense 15/23 - 1
17-41223023-C-G c.4908G>C p.K1636N Missense 15/23 - 1
17-41223023-C-A c.4908G>T p.K1636N Missense 15/23 - 1
17-41223024-T-G c.4907A>C p.K1636T Missense 15/23 - 1
17-41223024-T-C c.4907A>G p.K1636R Missense 15/23 - 1
17-41223024-T-A c.4907A>T p.K1636M Missense 15/23 - 1
17-41223025-T-G c.4906A>C p.K1636Q Missense 15/23 - 1
17-41223025-T-C c.4906A>G p.K1636E Missense 15/23 - 1
17-41223024-TTCTCCC-T c.4901_4906del p.R1634_E1635del InFrameDeletion 15/23 - 1
17-41223026-C-G c.4905G>C p.E1635D Missense 15/23 - 1
17-41223026-C-A c.4905G>T p.E1635D Missense 15/23 - 1
17-41223027-T-G c.4904A>C p.E1635A Missense 15/23 - 1
17-41223027-T-C c.4904A>G p.E1635G Missense 15/23 - 1
17-41223027-T-A c.4904A>T p.E1635V Missense 15/23 - 1
17-41223028-C-T c.4903G>A p.E1635K Missense 15/23 - 1
17-41223028-C-G c.4903G>C p.E1635Q Missense 15/23 - 1
17-41223028-C-A c.4903G>T p.E1635* Nonsense 15/23 - 1
17-41223029-C-G c.4902G>C p.R1634S Missense 15/23 - 1
17-41223029-C-A c.4902G>T p.R1634S Missense 15/23 - 1
17-41223029-C-T c.4902G>A p.R1634= Synonymous 15/23 - 1
17-41223030-C-T c.4901G>A p.R1634K Missense 15/23 - 1
17-41223030-C-G c.4901G>C p.R1634T Missense 15/23 - 1
17-41223031-T-C c.4900A>G p.R1634G Missense 15/23 - 11
17-41223032-G-T c.4899C>A p.S1633R Missense 15/23 - 1
17-41223033-C-T c.4898G>A p.S1633N Missense 15/23 - 1
17-41223033-C-G c.4898G>C p.S1633T Missense 15/23 - 1
17-41223033-C-A c.4898G>T p.S1633I Missense 15/23 - 1
17-41223034-T-G c.4897A>C p.S1633R Missense 15/23 - 1
17-41223034-T-C c.4897A>G p.S1633G Missense 15/23 - 1
17-41223034-T-A c.4897A>T p.S1633C Missense 15/23 - 1
17-41223036-A-T c.4895T>A p.V1632E Missense 15/23 - 1
17-41223036-A-G c.4895T>C p.V1632A Missense 15/23 - 1
17-41223036-A-C c.4895T>G p.V1632G Missense 15/23 - 2
17-41223033-CTCACACTT-C c.4890_4897del p.S1631Qfs*45 Frameshift 15/23 - 1
17-41223037-C-T c.4894G>A p.V1632M Missense 15/23 - 1
17-41223037-C-G c.4894G>C p.V1632L Missense 15/23 - 1
17-41223038-A-T c.4893T>A p.S1631R Missense 15/23 - 1
17-41223038-A-C c.4893T>G p.S1631R Missense 15/23 - 1
17-41223039-C-T c.4892G>A p.S1631N Missense 15/23 - 3
17-41223040-T-C c.4891A>G p.S1631G Missense 15/23 - 2
17-41223040-T-G c.4891A>C p.S1631R Missense 15/23 - 1
17-41223040-T-A c.4891A>T p.S1631C Missense 15/23 - 1
17-41223043-C-A c.4888G>T p.E1630* Nonsense 15/23 - 1
17-41223045-T-C c.4886A>G p.E1629G Missense 15/23 - 1
17-41223047-C-G c.4884G>C p.M1628I Missense 15/23 - 1
17-41223047-C-T c.4884G>A p.M1628I Missense 15/23 - 1
17-41223047-C-A c.4884G>T p.M1628I Missense 15/23 - 1
17-41223048-A-G c.4883T>C p.M1628T Missense 15/23 - 33
17-41223049-T-C c.4882A>G p.M1628V Missense 15/23 - 9
17-41223051-G-C c.4880C>G p.A1627G Missense 15/23 - 1
17-41223053-ATT-TTA c.4876_4878delinsTAA p.N1626* Nonsense 15/23 - 1
17-41223060-C-G c.4871G>C p.G1624A Missense 15/23 - 2
17-41223060-C-CT c.4870_4871insA p.G1624Efs*3 Frameshift 15/23 - 1
17-41223063-G-C c.4868C>G p.A1623G Missense 15/23 - 16
17-41223063-G-A c.4868C>T p.A1623V Missense 15/23 - 3
17-41223067-T-A c.4864A>T p.T1622S Missense 15/23 - 2
17-41223069-AT-A c.4862del p.D1621Vfs*12 Frameshift 15/23 - 1
17-41223069-T-C c.4862A>G p.D1621G Missense 15/23 - 1
17-41223071-AG-CA c.4859_4860delinsTG p.T1620M Missense 15/23 - 1
17-41223074-A-T c.4857T>A p.T1619= Synonymous 15/23 - 1
17-41223074-A-C c.4857T>G p.T1619= Synonymous 15/23 - 1
17-41223074-A-G c.4857T>C p.T1619= Synonymous 15/23 - 1
17-41223075-G-A c.4856C>T p.T1619I Missense 15/23 - 1
17-41223076-T-C c.4855A>G p.T1619A Missense 15/23 - 1
17-41223077-A-T c.4854T>A p.H1618Q Missense 15/23 - 1
17-41223079-G-A c.4852C>T p.H1618Y Missense 15/23 - 1
17-41223081-G-T c.4850C>A p.A1617D Missense 15/23 - 1
17-41223082-C-T c.4849G>A p.A1617T Missense 15/23 - 1
17-41223083-A-T c.4848T>A p.A1616= Synonymous 15/23 - 1
17-41223083-A-G c.4848T>C p.A1616= Synonymous 15/23 - 1
17-41223083-A-C c.4848T>G p.A1616= Synonymous 15/23 - 1
17-41223086-A-G c.4845T>C p.A1615= Synonymous 15/23 - 1
17-41223087-G-T c.4844C>A p.A1615D Missense 15/23 - 1
17-41223088-C-T c.4843G>A p.A1615T Missense 15/23 - 3
17-41223089-T-C c.4842A>G p.P1614= Synonymous 15/23 - 1
17-41223090-G-A c.4841C>T p.P1614L Missense 15/23 - 2
17-41223091-G-A c.4840C>T p.P1614S Missense 15/23 - 8
17-41223092-A-AG c.4838_4839insC p.P1614Sfs*8 Frameshift 15/23 - 3
17-41223092-A-G c.4839T>C p.S1613= Synonymous 15/23 - 1
17-41223092-A-C c.4839T>G p.S1613R Missense 15/23 - 1
17-41223092-ACT-AGGC c.4837_4838delinsGCC p.S1613Afs*9 Frameshift 15/23 - 1
17-41223094-T-C c.4837A>G p.S1613G Missense 15/23 - 149
17-41223094-T-A c.4837A>T p.S1613C Missense 15/23 - 51
17-41223094-CT-C c.4837del p.S1613Vfs*20 Frameshift 15/23 - 1
17-41223094-T-TC c.4836dup p.S1613Efs*9 Frameshift 15/23 - 1
17-41223097-G-A c.4834C>T p.Q1612* Nonsense 15/23 - 2
17-41223100-GC-G c.4831del p.A1611Pfs*22 Frameshift 15/23 - 1
17-41223103-A-T c.4828T>A p.S1610T Missense 15/23 - 1
17-41223105-T-C c.4826A>G p.E1609G Missense 15/23 - 2
17-41223106-C-A c.4825G>T p.E1609* Nonsense 15/23 - 1
17-41223106-C-T c.4825G>A p.E1609K Missense 15/23 - 1
17-41223108-G-C c.4823C>G p.A1608G Missense 15/23 - 1
17-41223108-G-A c.4823C>T p.A1608V Missense 15/23 - 1
17-41223115-T-C c.4816A>G p.K1606E Missense 15/23 - 3
17-41223116-C-G c.4815G>C p.L1605F Missense 15/23 - 1
17-41223117-AA-CT c.4813_4814delinsAG p.L1605R Missense 15/23 - 1
17-41223117-A-T c.4814T>A p.L1605* Nonsense 15/23 - 1
17-41223118-A-C c.4813T>G p.L1605V Missense 15/23 - 1
17-41223119-T-C c.4812A>G p.Q1604= Synonymous 15/23 - 5
17-41223120-T-A c.4811A>T p.Q1604L Missense 15/23 - 1
17-41223120-T-C c.4811A>G p.Q1604R Missense 15/23 - 1
17-41223109-CAACTTTCAATTGGGG-C c.4807_4821del p.P1603_V1607del InFrameDeletion 15/23 - 1
17-41223121-G-A c.4810C>T p.Q1604* Nonsense 15/23 - 5
17-41223122-G-T c.4809C>A p.P1603= Synonymous 15/23 - 2
17-41223125-A-T c.4806T>A p.V1602= Synonymous 15/23 - 1
17-41223125-A-G c.4806T>C p.V1602= Synonymous 15/23 - 1
17-41223125-A-C c.4806T>G p.V1602= Synonymous 15/23 - 1
17-41223124-GA-G c.4806del p.Q1604Nfs*2 Frameshift 15/23 - 1
17-41223127-C-T c.4804G>A p.V1602I Missense 15/23 - 1
17-41223130-T-A c.4801A>T p.K1601* Nonsense 15/23 - 13
17-41223130-T-C c.4801A>G p.K1601E Missense 15/23 - 1
17-41223131-C-A c.4800G>T p.L1600F Missense 15/23 - 1
17-41223131-C-G c.4800G>C p.L1600F Missense 15/23 - 1
17-41223133-A-G c.4798T>C p.L1600= Synonymous 15/23 - 1
17-41223131-C-T c.4800G>A p.L1600= Synonymous 15/23 - 1
17-41223138-G-A c.4793C>T p.S1598F Missense 15/23 - 27
17-41223139-A-G c.4792T>C p.S1598P Missense 15/23 - 1
17-41223140-G-T c.4791C>A p.T1597= Synonymous 15/23 - 1
17-41223140-G-C c.4791C>G p.T1597= Synonymous 15/23 - 1
17-41223140-G-A c.4791C>T p.T1597= Synonymous 15/23 - 1
17-41223139-AG-A c.4791del p.S1598Lfs*3 Frameshift 15/23 - 1
17-41223142-T-C c.4789A>G p.T1597A Missense 15/23 - 2
17-41223144-G-A c.4787C>T p.S1596L Missense 15/23 - 1
17-41223153-A-G c.4778T>C p.I1593T Missense 15/23 - 1
17-41223154-T-A c.4777A>T p.I1593L Missense 15/23 - 1
17-41223155-G-T c.4776C>A p.N1592K Missense 15/23 - 1
17-41223159-CC-TT c.4771_4772delinsAA p.G1591N Missense 15/23 - 1
17-41223163-C-T c.4768G>A p.V1590I Missense 15/23 - 1
17-41223164-A-T c.4767T>A p.R1589= Synonymous 15/23 - 1
17-41223164-A-G c.4767T>C p.R1589= Synonymous 15/23 - 1
17-41223164-A-C c.4767T>G p.R1589= Synonymous 15/23 - 1
17-41223165-C-T c.4766G>A p.R1589H Missense 15/23 - 4
17-41223166-G-A c.4765C>T p.R1589C Missense 15/23 - 1
17-41223169-C-A c.4762G>T p.A1588S Missense 15/23 - 1
17-41223171-G-T c.4760C>A p.S1587* Nonsense 15/23 - 2
17-41223171-G-A c.4760C>T p.S1587L Missense 15/23 - 1
17-41223172-A-T c.4759T>A p.S1587T Missense 15/23 - 1
17-41223170-TGACTCTGG-T c.4753_4760del p.P1585Sfs*34 Frameshift 15/23 - 1
17-41223173-C-T c.4758G>A p.E1586= Synonymous 15/23 - 1
17-41223173-C-G c.4758G>C p.E1586D Missense 15/23 - 1
17-41223173-C-A c.4758G>T p.E1586D Missense 15/23 - 1
17-41223174-T-C c.4757A>G p.E1586G Missense 15/23 - 2
17-41223175-C-A c.4756G>T p.E1586* Nonsense 15/23 - 3
17-41223176-CTG-C c.4754_4755del p.P1585Rfs*36 Frameshift 15/23 - 1
17-41223176-T-A c.4755A>T p.P1585= Synonymous 15/23 - 1
17-41223176-T-C c.4755A>G p.P1585= Synonymous 15/23 - 1
17-41223176-T-G c.4755A>C p.P1585= Synonymous 15/23 - 1
17-41223177-G-A c.4754C>T p.P1585L Missense 15/23 - 1
17-41223179-G-A c.4752C>T p.A1584= Synonymous 15/23 - 1
17-41223179-G-C c.4752C>G p.A1584= Synonymous 15/23 - 3
17-41223181-C-A c.4750G>T p.A1584S Missense 15/23 - 3
17-41223183-C-T c.4748G>A p.R1583K Missense 15/23 - 1
17-41223185-G-C c.4746C>G p.D1582E Missense 15/23 - 1
17-41223186-GT-G c.4745del p.D1582Afs*19 Frameshift 15/23 - 6
17-41223186-T-C c.4745A>G p.D1582G Missense 15/23 - 1
17-41223187-C-T c.4744G>A p.D1582N Missense 15/23 - 1
17-41223190-C-T c.4741G>A p.E1581K Missense 15/23 - 2
17-41223192-G-A c.4739C>T p.S1580F Missense 15/23 - 4
17-41223192-G-T c.4739C>A p.S1580Y Missense 15/23 - 2
17-41223193-A-G c.4738T>C p.S1580P Missense 15/23 - 1
17-41223191-AGAAG-A c.4736_4739del p.P1579Lfs*21 Frameshift 15/23 - 3
17-41223196-G-C c.4735C>G p.P1579A Missense 15/23 - 1
17-41223198-T-C c.4733A>G p.D1578G Missense 15/23 - 2
17-41223201-G-T c.4730C>A p.S1577Y Missense 15/23 - 3
17-41223202-A-G c.4729T>C p.S1577P Missense 15/23 - 8
17-41223205-C-T c.4726G>A p.E1576K Missense 15/23 - 2
17-41223205-C-G c.4726G>C p.E1576Q Missense 15/23 - 1
17-41223206-A-C c.4725T>G p.P1575= Synonymous 15/23 - 1
17-41223206-A-T c.4725T>A p.P1575= Synonymous 15/23 - 1
17-41223206-A-G c.4725T>C p.P1575= Synonymous 15/23 - 1
17-41223207-G-T c.4724C>A p.P1575H Missense 15/23 - 3
17-41223206-AG-A c.4724del p.P1575Lfs*26 Frameshift 15/23 - 1
17-41223210-GT-G c.4721del p.D1574Afs*27 Frameshift 15/23 - 1
17-41223215-AGA-CTC c.4714_4716delinsGAG p.S1572E Missense 15/23 - 1
17-41223216-G-C c.4715C>G p.S1572C Missense 15/23 - 1
17-41223217-A-C c.4714T>G p.S1572A Missense 15/23 - 1
17-41223219-A-G c.4712T>C p.F1571S Missense 15/23 - 2
17-41223214-CAGAGA-C c.4712_4716del p.F1571* Frameshift 15/23 - 1
17-41223218-GA-G c.4712del p.F1571Sfs*30 Frameshift 15/23 - 2
17-41223221-G-A c.4710C>T p.L1570= Synonymous 15/23 - 1
17-41223221-G-C c.4710C>G p.L1570= Synonymous 15/23 - 1
17-41223221-G-T c.4710C>A p.L1570= Synonymous 15/23 - 1
17-41223223-G-A c.4708C>T p.L1570F Missense 15/23 - 1
17-41223225-C-CGATTCCA c.4705_4706insTGGAATC p.S1569Mfs*7 Frameshift 15/23 - 1
17-41223225-C-T c.4706G>A p.S1569N Missense 15/23 - 1
17-41223227-G-C c.4704C>G p.I1568M Missense 15/23 - 1
17-41223228-A-G c.4703T>C p.I1568T Missense 15/23 - 1
17-41223229-T-C c.4702A>G p.I1568V Missense 15/23 - 1
17-41223231-CC-TT c.4699_4700delinsAA p.G1567K Missense 15/23 - 1
17-41223232-C-A c.4699G>T p.G1567* Nonsense 15/23 - 1
17-41223233-A-C c.4698T>G p.S1566= Synonymous 15/23 - 1
17-41223233-A-G c.4698T>C p.S1566= Synonymous 15/23 - 1
17-41223233-A-T c.4698T>A p.S1566= Synonymous 15/23 - 1
17-41223234-GA-CC c.4696_4697delinsGG p.S1566G Missense 15/23 - 8
17-41223234-G-A c.4697C>T p.S1566F Missense 15/23 - 1
17-41223226-TGATTCCA-T c.4698_4704del p.G1567Afs*32 Frameshift 15/23 - 2
17-41223236-T-G c.4695A>C p.E1565D Missense 15/23 - 1
17-41223236-T-A c.4695A>T p.E1565D Missense 15/23 - 1
17-41223237-TCCAGGT-C c.4688_4694delinsG p.Y1563_E1565delins* MultiAAMissense 15/23 - 1
17-41223235-A-AT c.4695dup p.S1566Ifs*8 Frameshift 15/23 - 1
17-41223240-A-G c.4691T>C p.L1564P Missense 15/23 - 11
17-41223242-G-C c.4689C>G p.Y1563* Nonsense 15/23 - 25
17-41223242-G-A c.4689C>T p.Y1563= Synonymous 15/23 - 1
17-41223242-G-GT c.4688dup p.Y1563* Nonsense 15/23 - 1
17-41223245-A-C c.4686T>G p.P1562= Synonymous 15/23 - 1
17-41223245-A-T c.4686T>A p.P1562= Synonymous 15/23 - 1
17-41223245-A-G c.4686T>C p.P1562= Synonymous 15/23 - 1
17-41223246-G-A c.4685C>T p.P1562L Missense 15/23 - 1
17-41223249-G-A c.4682C>T p.T1561I Missense 15/23 - 12
17-41223249-G-T c.4682C>A p.T1561N Missense 15/23 - 3
17-41223249-GT-CC c.4681_4682delinsGG p.T1561G Missense 15/23 - 1
17-41223249-GT-AG c.4681_4682delinsCT p.T1561L Missense 15/23 - 1
17-41223249-GGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACA-G c.4676-52_4682del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 15/23 14/22 1
17-41223250-T-C c.4681A>G p.T1561A Missense 15/23 - 1
17-41223252-C-A c.4679G>T p.G1560V Missense 15/23 - 2
17-41223252-C-T c.4679G>A p.G1560E Missense 15/23 - 1
17-41223252-CC-TT c.4678_4679delinsAA p.G1560K Missense 15/23 - 1
17-41223251-TCC-T c.4678_4679del p.G1560Nfs*13 Frameshift 15/23 - 2
17-41223255-T-C c.4676A>G p.E1559G Missense 15/23 - 1
17-41223538-G-GAATGTTCACTGTAACAATGCTTGT c.4676-284_4676-283insACAAGCATTGTTACAGTGAACATT - IntronicInsertion - 14/22 1
17-41225783-A-T c.4675+565T>A - IntronicSNV - 14/22 2
17-41226345-T-C c.4675+3A>G - IntronicSNV - 14/22 1
17-41226345-T-A c.4675+3A>T - IntronicSNV - 14/22 2
17-41226346-A-G c.4675+2T>C - IntronicSNV - 14/22 1
17-41226346-A-T c.4675+2T>A - IntronicSNV - 14/22 1
17-41226347-C-A c.4675+1G>T - IntronicSNV - 14/22 1
17-41226347-C-G c.4675+1G>C - IntronicSNV - 14/22 2
17-41226347-C-T c.4675+1G>A - IntronicSNV - 14/22 16
17-41226348-C-G c.4675G>C p.E1559Q Missense 14/23 - 4
17-41226348-C-T c.4675G>A p.E1559K Missense 14/23 - 14
17-41226348-C-A c.4675G>T p.E1559* Nonsense 14/23 - 2
17-41226349-T-C c.4674A>G p.L1558= Synonymous 14/23 - 1
17-41226349-CTAG-C c.4672_4674del p.L1558del InFrameDeletion 14/23 - 1
17-41226352-GATCTTGCC-G c.4664_4671del p.R1555Tfs*16 Frameshift 14/23 - 1
17-41226353-ATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTG-A c.4612_4670del p.Q1538Sfs*16 Unclassified 14/23 - 1
17-41226354-C-G c.4669G>C p.D1557H Missense 14/23 - 1
17-41226357-G-A c.4666C>T p.Q1556* Nonsense 14/23 - 1
17-41226357-GC-G c.4665del p.R1555Sfs*4 Frameshift 14/23 - 1
17-41226361-T-A c.4662A>T p.P1554= Synonymous 14/23 - 1
17-41226359-CT-C c.4663del p.R1555Gfs*4 Frameshift 14/23 - 2
17-41226362-G-A c.4661C>T p.P1554L Missense 14/23 - 1
17-41226364-CA-C c.4658del p.L1553Cfs*6 Frameshift 14/23 - 2
17-41226366-A-T c.4657T>A p.L1553M Missense 14/23 - 1
17-41226367-G-T c.4656C>A p.Y1552* Nonsense 14/23 - 1
17-41226367-G-C c.4656C>G p.Y1552* Nonsense 14/23 - 2
17-41226368-T-C c.4655A>G p.Y1552C Missense 14/23 - 1
17-41226368-TA-CG c.4654_4655delinsCG p.Y1552R Missense 14/23 - 1
17-41226367-G-GT c.4655dup p.Y1552* Nonsense 14/23 - 1
17-41226368-T-A c.4655A>T p.Y1552F Missense 14/23 - 1
17-41226369-A-G c.4654T>C p.Y1552H Missense 14/23 - 2
17-41226371-G-C c.4652C>G p.S1551C Missense 14/23 - 1
17-41226374-G-A c.4649C>T p.T1550I Missense 14/23 - 3
17-41226375-T-C c.4648A>G p.T1550A Missense 14/23 - 2
17-41226374-G-GTT c.4647_4648dup p.T1550Kfs*10 Frameshift 14/23 - 1
17-41226378-C-T c.4645G>A p.E1549K Missense 14/23 - 1
17-41226380-G-A c.4643C>T p.T1548M Missense 14/23 - 2
17-41226381-GT-G c.4642del p.T1548Rfs*11 Frameshift 14/23 - 1
17-41226383-AA-CC c.4639_4640delinsGG p.L1547G Missense 14/23 - 1
17-41226383-AA-GC c.4639_4640delinsGC p.L1547A Missense 14/23 - 1
17-41226384-A-C c.4639T>G p.L1547V Missense 14/23 - 1
17-41226381-TCAAATCGTGTGGCC-T c.4628_4641del p.G1543Dfs*26 Frameshift 14/23 - 1
17-41226385-A-C c.4638T>G p.D1546E Missense 14/23 - 1
17-41226385-A-T c.4638T>A p.D1546E Missense 14/23 - 1
17-41226387-C-A c.4636G>T p.D1546Y Missense 14/23 - 6
17-41226387-C-G c.4636G>C p.D1546H Missense 14/23 - 1
17-41226387-C-T c.4636G>A p.D1546N Missense 14/23 - 10
17-41226390-G-T c.4633C>A p.H1545N Missense 14/23 - 1
17-41226392-G-A c.4631C>T p.P1544L Missense 14/23 - 1
17-41226391-TG-T c.4631del p.P1544Hfs*4 Frameshift 14/23 - 1
17-41226393-G-T c.4630C>A p.P1544T Missense 14/23 - 1
17-41226396-CAG-C c.4625_4626del p.S1542Wfs*31 Frameshift 14/23 - 3
17-41226398-G-C c.4625C>G p.S1542C Missense 14/23 - 3
17-41226399-A-C c.4624T>G p.S1542A Missense 14/23 - 2
17-41226402-C-A c.4621G>T p.E1541* Nonsense 14/23 - 1
17-41226402-CTTC-TTT c.4618_4621delinsAAA p.E1540Kfs*8 Frameshift 14/23 - 1
17-41226405-C-A c.4618G>T p.E1540* Nonsense 14/23 - 2
17-41226407-A-G c.4616T>C p.L1539P Missense 14/23 - 1
17-41226410-T-C c.4613A>G p.Q1538R Missense 14/23 - 1
17-41226410-CTGTTGCTCCTCCACATCAACAACCTTA-C c.4587_4613del p.I1529_Q1538delinsM MultiAAMissense 14/23 - 1
17-41226411-G-A c.4612C>T p.Q1538* Nonsense 14/23 - 9
17-41226411-G-GC c.4611_4612insG p.Q1538Afs*36 Frameshift 14/23 - 2
17-41226414-G-A c.4609C>T p.Q1537* Nonsense 14/23 - 2
17-41226414-GCTCCTCCA-G c.4601_4608del p.V1534Afs*37 Frameshift 14/23 - 1
17-41226420-C-A c.4603G>T p.E1535* Nonsense 14/23 - 4
17-41226423-C-T c.4600G>A p.V1534M Missense 14/23 - 11
17-41226425-ATC-A c.4597_4598del p.D1533Cfs*40 Frameshift 14/23 - 1
17-41226425-TCAACAAC-T c.4591_4597del p.V1531Mfs*15 Frameshift 14/23 - 1
17-41226427-A-AAG c.4595_4596insCT p.D1533Lfs*16 Frameshift 14/23 - 1
17-41226434-CTTAATGAG-C c.4582_4589del p.L1528Gfs*3 Frameshift 14/23 - 1
17-41226435-T-C c.4588A>G p.K1530E Missense 14/23 - 1
17-41226438-T-C c.4585A>G p.I1529V Missense 14/23 - 4
17-41226439-G-A c.4584C>T p.L1528= Synonymous 14/23 - 1
17-41226439-G-C c.4584C>G p.L1528= Synonymous 14/23 - 1
17-41226439-G-T c.4584C>A p.L1528= Synonymous 14/23 - 1
17-41226440-GA-G c.4583del p.L1528Pfs*20 Frameshift 14/23 - 1
17-41226440-A-G c.4583T>C p.L1528P Missense 14/23 - 1
17-41226443-T-A c.4580A>T p.E1527V Missense 14/23 - 1
17-41226443-TC-AT c.4579_4580delinsAT p.E1527M Missense 14/23 - 1
17-41226444-C-A c.4579G>T p.E1527* Nonsense 14/23 - 1
17-41226444-C-T c.4579G>A p.E1527K Missense 14/23 - 1
17-41226447-C-T c.4576G>A p.E1526K Missense 14/23 - 1
17-41226448-CTT-C c.4574_4575del p.Q1525Rfs*5 Frameshift 14/23 - 2
17-41226448-T-C c.4575A>G p.Q1525= Synonymous 14/23 - 1
17-41226447-CT-C c.4575del p.E1526Rfs*22 Frameshift 14/23 - 2
17-41226450-TGAGA-T c.4570_4573del p.S1524Kfs*23 Frameshift 14/23 - 1
17-41226450-G-A c.4573C>T p.Q1525* Nonsense 14/23 - 4
17-41226452-GA-TC c.4570_4571inv p.S1524D Missense 14/23 - 1
17-41226452-G-T c.4571C>A p.S1524Y Missense 14/23 - 1
17-41226453-A-C c.4570T>G p.S1524A Missense 14/23 - 12
17-41226457-G-T c.4566C>A p.Y1522* Nonsense 14/23 - 2
17-41226457-G-C c.4566C>G p.Y1522* Nonsense 14/23 - 2
17-41226458-T-C c.4565A>G p.Y1522C Missense 14/23 - 3
17-41226460-G-A c.4563C>T p.N1521= Synonymous 14/23 - 1
17-41226461-T-C c.4562A>G p.N1521S Missense 14/23 - 1
17-41226467-T-C c.4556A>G p.N1519S Missense 14/23 - 1
17-41226471-G-A c.4552C>T p.Q1518* Nonsense 14/23 - 4
17-41226471-G-C c.4552C>G p.Q1518E Missense 14/23 - 1
17-41226471-G-T c.4552C>A p.Q1518K Missense 14/23 - 1
17-41226474-G-A c.4549C>T p.L1517F Missense 14/23 - 1
17-41226480-C-T c.4543G>A p.G1515R Missense 14/23 - 2
17-41226488-C-A c.4535G>T p.S1512I Missense 14/23 - 35
17-41226489-T-G c.4534A>C p.S1512R Missense 14/23 - 1
17-41226489-T-A c.4534A>T p.S1512C Missense 14/23 - 1
17-41226490-G-GA c.4532_4533insT p.S1512Qfs*9 Frameshift 14/23 - 1
17-41226490-G-GTTTA c.4532_4533insTAAA p.S1512Kfs*10 Frameshift 14/23 - 1
17-41226488-CTG-C c.4533_4534del p.H1511Qfs*9 Frameshift 14/23 - 1
17-41226492-G-A c.4531C>T p.H1511Y Missense 14/23 - 1
17-41226493-C-A c.4530G>T p.M1510I Missense 14/23 - 1
17-41226495-T-C c.4528A>G p.M1510V Missense 14/23 - 1
17-41226496-G-T c.4527C>A p.Y1509* Nonsense 14/23 - 1
17-41226496-G-C c.4527C>G p.Y1509* Nonsense 14/23 - 1
17-41226496-G-A c.4527C>T p.Y1509= Synonymous 14/23 - 2
17-41226499-C-T c.4524G>A p.W1508* Nonsense 14/23 - 16
17-41226500-C-T c.4523G>A p.W1508* Nonsense 14/23 - 3
17-41226501-A-T c.4522T>A p.W1508R Missense 14/23 - 1
17-41226501-A-G c.4522T>C p.W1508R Missense 14/23 - 1
17-41226502-CCT-AAA c.4519_4521delinsTTT p.R1507F Missense 14/23 - 1
17-41226503-C-G c.4520G>C p.R1507T Missense 14/23 - 2
17-41226503-C-T c.4520G>A p.R1507K Missense 14/23 - 1
17-41226504-T-C c.4519A>G p.R1507G Missense 14/23 - 1
17-41226505-A-G c.4518T>C p.D1506= Synonymous 14/23 - 1
17-41226505-A-C c.4518T>G p.D1506E Missense 14/23 - 1
17-41226505-A-T c.4518T>A p.D1506E Missense 14/23 - 1
17-41226507-C-T c.4516G>A p.D1506N Missense 14/23 - 1
17-41226507-TC-T c.4516del p.D1506Ifs*42 Frameshift 14/23 - 2
17-41226512-A-G c.4511T>C p.L1504S Missense 14/23 - 1
17-41226515-G-T c.4508C>A p.S1503* Nonsense 14/23 - 13
17-41226515-G-C c.4508C>G p.S1503* Nonsense 14/23 - 1
17-41226515-G-A c.4508C>T p.S1503L Missense 14/23 - 1
17-41226516-A-G c.4507T>C p.S1503P Missense 14/23 - 1
17-41226517-T-A c.4506A>T p.P1502= Synonymous 14/23 - 1
17-41226517-T-C c.4506A>G p.P1502= Synonymous 14/23 - 1
17-41226517-T-G c.4506A>C p.P1502= Synonymous 14/23 - 1
17-41226517-TGG-AAA c.4504_4506delinsTTT p.P1502F Missense 14/23 - 1
17-41226518-G-A c.4505C>T p.P1502L Missense 14/23 - 1
17-41226518-G-T c.4505C>A p.P1502Q Missense 14/23 - 1
17-41226519-G-A c.4504C>T p.P1502S Missense 14/23 - 2
17-41226520-G-A c.4503C>T p.C1501= Synonymous 14/23 - 1
17-41226520-G-T c.4503C>A p.C1501* Nonsense 14/23 - 1
17-41226534-A-C c.4489T>G p.S1497A Missense 14/23 - 8
17-41226536-G-T c.4487C>A p.S1496* Nonsense 14/23 - 2
17-41226536-TG-T c.4487del p.S1496Yfs*9 Frameshift 14/23 - 2
17-41226537-A-G c.4486T>C p.S1496P Missense 14/23 - 1
17-41226538-C-T c.4485G>A p.R1495= Synonymous 14/23 - 1
17-41228506-T-G c.4483A>C p.R1495= Synonymous 13/23 - 1
17-41226539-C-A c.4485-1G>T - IntronicSNV - 13/22 1
17-41226539-C-G c.4485-1G>C - IntronicSNV - 13/22 1
17-41226539-C-T c.4485-1G>A - IntronicSNV - 13/22 1
17-41226601-G-C c.4485-63C>G - IntronicSNV - 13/22 3
17-41226675-A-T c.4485-137T>A - IntronicSNV - 13/22 1
17-41228466-T-C c.4484+39A>G - IntronicSNV - 13/22 1
17-41228490-A-G c.4484+15T>C - IntronicSNV - 13/22 1
17-41228491-T-C c.4484+14A>G - IntronicSNV - 13/22 3
17-41228499-TTCTTACCTTTCC-T c.4479_4484+6del - SpliceDonorDeletion 13/23 13/22 1
17-41228500-C-T c.4484+5G>A - IntronicSNV - 13/22 1
17-41228502-T-C c.4484+3A>G - IntronicSNV - 13/22 1
17-41228504-C-A c.4484+1G>T - IntronicSNV - 13/22 2
17-41228504-C-T c.4484+1G>A - IntronicSNV - 13/22 6
17-41228505-C-A c.4484G>T p.R1495M Missense 13/23 - 41
17-41228505-C-G c.4484G>C p.R1495T Missense 13/23 - 7
17-41228505-C-T c.4484G>A p.R1495K Missense 13/23 - 11
17-41228503-AC-A c.4484+1del - IntronicDeletion 13/23 - 2
17-41228506-T-TC c.4482_4483insG p.R1495Efs*6 SpliceDonorInsertion 13/23 - 1
17-41228506-T-TG c.4482_4483insC p.R1495Qfs*6 SpliceDonorInsertion 13/23 - 1
17-41228506-T-TA c.4482_4483insT p.R1495* SpliceDonorInsertion 13/23 - 1
17-41228505-C-CT c.4483dup p.R1495Kfs*6 SpliceDonorInsertion 13/23 - 1
17-41228508-T-C c.4481A>G p.E1494G Missense 13/23 - 1
17-41228509-C-A c.4480G>T p.E1494* Nonsense 13/23 - 1
17-41228509-C-T c.4480G>A p.E1494K Missense 13/23 - 1
17-41228512-C-CT c.4476dup p.V1493Sfs*8 Frameshift 13/23 - 1
17-41228518-G-C c.4471C>G p.P1491A Missense 13/23 - 1
17-41228519-T-TTTTTA c.4469_4470insTAAAA p.E1490Dfs*17 Frameshift 13/23 - 1
17-41228520-T-C c.4469A>G p.E1490G Missense 13/23 - 1
17-41228521-C-T c.4468G>A p.E1490K Missense 13/23 - 1
17-41228523-T-C c.4466A>G p.K1489R Missense 13/23 - 2
17-41228521-CTTTATTTT-C c.4460_4467del p.K1487Rfs*11 Frameshift 13/23 - 1
17-41228524-T-C c.4465A>G p.K1489E Missense 13/23 - 2
17-41228528-TTTTA-T c.4458_4461del p.S1486Rfs*18 Frameshift 13/23 - 1
17-41228529-T-A c.4460A>T p.K1487I Missense 13/23 - 1
17-41228529-T-C c.4460A>G p.K1487R Missense 13/23 - 9
17-41228529-T-G c.4460A>C p.K1487T Missense 13/23 - 1
17-41228530-T-C c.4459A>G p.K1487E Missense 13/23 - 1
17-41228533-T-A c.4456A>T p.S1486C Missense 13/23 - 3
17-41228535-G-A c.4454C>T p.T1485I Missense 13/23 - 2
17-41228539-A-T c.4450T>A p.S1484T Missense 13/23 - 1
17-41228544-T-G c.4445A>C p.D1482A Missense 13/23 - 1
17-41228545-C-CA c.4443_4444insT p.D1482* Nonsense 13/23 - 1
17-41228550-G-GA c.4438dup p.S1480Ffs*4 Frameshift 13/23 - 1
17-41228555-C-A c.4434G>T p.E1478D Missense 13/23 - 2
17-41228555-C-G c.4434G>C p.E1478D Missense 13/23 - 2
17-41228557-C-T c.4432G>A p.E1478K Missense 13/23 - 1
17-41228558-A-G c.4431T>C p.F1477= Synonymous 13/23 - 1
17-41228562-T-C c.4427A>G p.K1476R Missense 13/23 - 2
17-41228566-C-T c.4423G>A p.D1475N Missense 13/23 - 1
17-41228567-A-G c.4422T>C p.A1474= Synonymous 13/23 - 3
17-41228567-A-T c.4422T>A p.A1474= Synonymous 13/23 - 2
17-41228567-A-C c.4422T>G p.A1474= Synonymous 13/23 - 2
17-41228568-G-GTT c.4420_4421insAA p.A1474Efs*32 Frameshift 13/23 - 1
17-41228571-G-A c.4418C>T p.S1473F Missense 13/23 - 1
17-41228572-A-C c.4417T>G p.S1473A Missense 13/23 - 1
17-41228572-A-G c.4417T>C p.S1473P Missense 13/23 - 1
17-41228572-AA-C c.4416_4417delinsG p.S1473Lfs*32 Frameshift 13/23 - 1
17-41228573-A-ATC c.4415_4416insGA p.S1473Ifs*33 Frameshift 13/23 - 1
17-41228574-A-G c.4415T>C p.L1472P Missense 13/23 - 1
17-41228577-C-T c.4412G>A p.G1471D Missense 13/23 - 1
17-41228576-GC-G c.4412del p.G1471Afs*34 Frameshift 13/23 - 1
17-41228579-T-A c.4410A>T p.E1470D Missense 13/23 - 3
17-41228579-T-G c.4410A>C p.E1470D Missense 13/23 - 1
17-41228581-C-A c.4408G>T p.E1470* Nonsense 13/23 - 1
17-41228581-C-T c.4408G>A p.E1470K Missense 13/23 - 1
17-41228583-G-T c.4406C>A p.P1469Q Missense 13/23 - 1
17-41228584-G-A c.4405C>T p.P1469S Missense 13/23 - 1
17-41228582-T-TG c.4406dup p.E1470Rfs*6 Frameshift 13/23 - 1
17-41228585-A-G c.4404T>C p.N1468= Synonymous 13/23 - 1
17-41228587-T-G c.4402A>C p.N1468H Missense 13/23 - 4
17-41228590-G-A c.4399C>T p.Q1467* Nonsense 13/23 - 2
17-41228591-G-T c.4398C>A p.S1466R Missense 13/23 - 1
17-41228589-TG-T c.4399del p.Q1467Rfs*38 Frameshift 13/23 - 2
17-41228592-CT-GC c.4396_4397delinsGC p.S1466A Missense 13/23 - 1
17-41228596-T-C c.4393A>G p.I1465V Missense 13/23 - 2
17-41228596-T-G c.4393A>C p.I1465L Missense 13/23 - 1
17-41228596-TAG-AA c.4391_4393delinsTT p.P1464Lfs*2 Frameshift 13/23 - 2
17-41228597-TA-T c.4392del p.I1465* Frameshift 13/23 - 1
17-41228600-G-T c.4389C>A p.Y1463* Nonsense 13/23 - 4
17-41228600-G-C c.4389C>G p.Y1463* Nonsense 13/23 - 3
17-41228604-T-C c.4385A>G p.E1462G Missense 13/23 - 1
17-41228602-AT-A c.4386del p.E1462Dfs*4 Frameshift 13/23 - 1
17-41228605-C-A c.4384G>T p.E1462* Nonsense 13/23 - 3
17-41228605-C-T c.4384G>A p.E1462K Missense 13/23 - 1
17-41228607-C-T c.4382G>A p.S1461N Missense 13/23 - 1
17-41228608-T-C c.4381A>G p.S1461G Missense 13/23 - 1
17-41228614-T-A c.4375A>T p.K1459* Nonsense 13/23 - 1
17-41228616-T-A c.4373A>T p.Q1458L Missense 13/23 - 1
17-41228617-G-A c.4372C>T p.Q1458* Nonsense 13/23 - 13
17-41228617-TG-T c.4372del p.Q1458Rfs*8 Frameshift 13/23 - 1
17-41228619-G-T c.4370C>A p.S1457* Nonsense 13/23 - 1
17-41228619-G-C c.4370C>G p.S1457* Nonsense 13/23 - 1
17-41228620-A-C c.4369T>G p.S1457A Missense 13/23 - 6
17-41228625-A-G c.4364T>C p.L1455S Missense 13/23 - 1
17-41228628-A-G c.4361T>C p.V1454A Missense 13/23 - 2
17-41228627-T-TA c.4361dup p.L1455Ifs*7 Frameshift 13/23 - 1
17-41228630-CTG-C c.4358_4359del p.A1453Gfs*8 SpliceAcceptorDeletion 13/23 - 1
17-41228628-ACTG-A c.4358_4360del p.A1453del SpliceAcceptorDeletion 13/23 12/22 1
17-41230524-T-G c.4358-1893A>C - IntronicSNV - 12/22 5
17-41231221-A-C c.4358-2590T>G - IntronicSNV - 12/22 1
17-41231351-C-T c.4358-2720G>A - IntronicSNV - 12/22 1
17-41231420-T-C c.4358-2789A>G - IntronicSNV - 12/22 1
17-41231471-A-G c.4358-2840T>C - IntronicSNV - 12/22 1
17-41231516-C-T c.4358-2885G>A - IntronicSNV - 12/22 2
17-41231902-G-A c.4357+2519C>T - IntronicSNV - 12/22 1
17-41232698-C-T c.4357+1723G>A - IntronicSNV - 12/22 1
17-41234304-C-T c.4357+117G>A - IntronicSNV - 12/22 19
17-41234304-C-G c.4357+117G>C - IntronicSNV - 12/22 1
17-41234399-G-A c.4357+22C>T - IntronicSNV - 12/22 1
17-41234415-A-G c.4357+6T>C - IntronicSNV - 12/22 1
17-41234416-C-T c.4357+5G>A - IntronicSNV - 12/22 1
17-41234419-A-G c.4357+2T>C - IntronicSNV - 12/22 1
17-41234419-A-C c.4357+2T>G - IntronicSNV - 12/22 4
17-41234420-C-A c.4357+1G>T - IntronicSNV - 12/22 7
17-41234420-C-G c.4357+1G>C - IntronicSNV - 12/22 3
17-41234420-C-T c.4357+1G>A - IntronicSNV - 12/22 16
17-41234419-AC-A c.4357+1del - IntronicDeletion 12/23 - 1
17-41234422-T-C c.4356A>G p.K1452= Synonymous 12/23 - 1
17-41234424-TTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATG-T c.4296_4354del p.I1433Sfs*9 Unclassified 12/23 - 1
17-41234421-CT-C c.4356del p.A1453Qfs*3 Frameshift 12/23 - 2
17-41234426-T-C c.4352A>G p.E1451G Missense 12/23 - 1
17-41234427-C-T c.4351G>A p.E1451K Missense 12/23 - 1
17-41234424-TTTCTGATGTGCTTTG-T c.4339_4353del p.Q1447_E1451del InFrameDeletion 12/23 - 1
17-41234431-T-C c.4347A>G p.T1449= Synonymous 12/23 - 1
17-41234433-T-A c.4345A>T p.T1449S Missense 12/23 - 1
17-41234434-G-C c.4344C>G p.S1448R Missense 12/23 - 1
17-41234434-G-T c.4344C>A p.S1448R Missense 12/23 - 1
17-41234435-C-T c.4343G>A p.S1448N Missense 12/23 - 1
17-41234435-GC-G c.4343del p.S1448Tfs*8 Frameshift 12/23 - 1
17-41234435-C-G c.4343G>C p.S1448T Missense 12/23 - 2
17-41234436-T-C c.4342A>G p.S1448G Missense 12/23 - 4
17-41234438-T-C c.4340A>G p.Q1447R Missense 12/23 - 1
17-41234439-G-A c.4339C>T p.Q1447* Nonsense 12/23 - 2
17-41234439-G-GTTCT c.4335_4338dup p.Q1447Rfs*16 Frameshift 12/23 - 1
17-41234446-A-G c.4332T>C p.N1444= Synonymous 12/23 - 1
17-41234449-TCG-CCA c.4327_4329delinsTGG p.R1443W Missense 12/23 - 1
17-41234449-TCG-GCT c.4327_4329delinsAGC p.R1443S Missense 12/23 - 1
17-41234450-C-T c.4328G>A p.R1443Q Missense 12/23 - 8
17-41234451-G-A c.4327C>T p.R1443* Nonsense 12/23 - 119
17-41234448-TTCGCAGG-T c.4323_4329del p.D1441Efs*13 Frameshift 12/23 - 1
17-41234451-G-C c.4327C>G p.R1443G Missense 12/23 - 15
17-41234451-G-T c.4327C>A p.R1443= Synonymous 12/23 - 1
17-41234449-T-G c.4329A>C p.R1443= Synonymous 12/23 - 1
17-41234449-T-C c.4329A>G p.R1443= Synonymous 12/23 - 1
17-41234449-T-A c.4329A>T p.R1443= Synonymous 12/23 - 1
17-41234460-C-A c.4318G>T p.E1440* Nonsense 12/23 - 1
17-41234460-C-T c.4318G>A p.E1440K Missense 12/23 - 1
17-41234463-G-A c.4315C>T p.L1439F Missense 12/23 - 3
17-41234466-C-T c.4312G>A p.A1438T Missense 12/23 - 1
17-41234469-GAA-G c.4308_4309del p.S1437Cfs*3 Frameshift 12/23 - 1
17-41234469-A-G c.4309T>C p.S1437P Missense 12/23 - 1
17-41234470-A-G c.4308T>C p.S1436= Synonymous 12/23 - 61
17-41234470-A-T c.4308T>A p.S1436= Synonymous 12/23 - 38
17-41234470-A-C c.4308T>G p.S1436= Synonymous 12/23 - 32
17-41234468-GA-G c.4309del p.S1437Lfs*19 Frameshift 12/23 - 1
17-41234469-AAG-A c.4307_4308del p.S1436Ffs*4 Frameshift 12/23 - 2
17-41234473-G-A c.4305C>T p.D1435= Synonymous 12/23 - 1
17-41234474-T-C c.4304A>G p.D1435G Missense 12/23 - 1
17-41234475-C-T c.4303G>A p.D1435N Missense 12/23 - 1
17-41234476-AC-CT c.4301_4302delinsAG p.S1434K Missense 12/23 - 1
17-41234476-A-G c.4302T>C p.S1434= Synonymous 12/23 - 1
17-41234478-T-C c.4300A>G p.S1434G Missense 12/23 - 1
17-41234477-C-CT c.4300dup p.S1434Kfs*2 Frameshift 12/23 - 1
17-41234479-T-C c.4299A>G p.I1433M Missense 12/23 - 1
17-41234484-T-G c.4294A>C p.I1432L Missense 12/23 - 1
17-41234487-A-G c.4291T>C p.S1431P Missense 12/23 - 1
17-41234490-G-A c.4288C>T p.P1430S Missense 12/23 - 1
17-41234491-G-T c.4287C>A p.Y1429* Nonsense 12/23 - 5
17-41234491-G-C c.4287C>G p.Y1429* Nonsense 12/23 - 1
17-41234491-G-A c.4287C>T p.Y1429= Synonymous 12/23 - 1
17-41234492-T-TC c.4285_4286insG p.Y1429* Nonsense 12/23 - 1
17-41234493-A-G c.4285T>C p.Y1429H Missense 12/23 - 1
17-41234494-GCT-TCA c.4282_4284delinsTGA p.S1428* Nonsense 12/23 - 1
17-41234508-G-A c.4270C>T p.Q1424* Nonsense 12/23 - 1
17-41234509-G-C c.4269C>G p.S1423R Missense 12/23 - 1
17-41234509-G-T c.4269C>A p.S1423R Missense 12/23 - 1
17-41234511-T-G c.4267A>C p.S1423R Missense 12/23 - 1
17-41234510-CT-GC c.4267_4268delinsGC p.S1423A Missense 12/23 - 16
17-41234510-CT-TC c.4267_4268delinsGA p.S1423D Missense 12/23 - 1
17-41234510-C-T c.4268G>A p.S1423N Missense 12/23 - 1
17-41234513-C-T c.4265G>A p.G1422E Missense 12/23 - 1
17-41234514-C-CA c.4263dup p.G1422Wfs*6 Frameshift 12/23 - 1
17-41234516-T-C c.4262A>G p.H1421R Missense 12/23 - 1
17-41234517-G-A c.4261C>T p.H1421Y Missense 12/23 - 10
17-41234517-G-T c.4261C>A p.H1421N Missense 12/23 - 1
17-41234520-G-A c.4258C>T p.Q1420* Nonsense 12/23 - 4
17-41234520-TG-T c.4258del p.Q1420Sfs*14 Frameshift 12/23 - 1
17-41234523-C-A c.4255G>T p.E1419* Nonsense 12/23 - 2
17-41234523-C-G c.4255G>C p.E1419Q Missense 12/23 - 5
17-41234523-C-T c.4255G>A p.E1419K Missense 12/23 - 1
17-41234525-A-T c.4253T>A p.L1418* Nonsense 12/23 - 1
17-41234525-A-C c.4253T>G p.L1418* Nonsense 12/23 - 1
17-41234524-TA-T c.4253del p.L1418* Frameshift 12/23 - 2
17-41234529-C-G c.4249G>C p.V1417L Missense 12/23 - 1
17-41234531-G-A c.4247C>T p.A1416V Missense 12/23 - 1
17-41234532-C-T c.4246G>A p.A1416T Missense 12/23 - 1
17-41234533-T-C c.4245A>G p.E1415= Synonymous 12/23 - 1
17-41234532-CT-C c.4245del p.A1416Lfs*3 Frameshift 12/23 - 1
17-41234535-TC-T c.4243del p.E1415Kfs*4 Frameshift 12/23 - 2
17-41234535-C-A c.4243G>T p.E1415* Nonsense 12/23 - 2
17-41234537-A-G c.4241T>C p.L1414P Missense 12/23 - 1
17-41234537-AG-GC c.4240_4241delinsGC p.L1414A Missense 12/23 - 1
17-41234537-A-AG c.4240dup p.L1414Pfs*14 Frameshift 12/23 - 4
17-41234540-T-C c.4238A>G p.E1413G Missense 12/23 - 1
17-41234538-GT-G c.4239del p.E1413Dfs*2 Frameshift 12/23 - 2
17-41234541-TC-T c.4237del p.E1413Nfs*2 Frameshift 12/23 - 1
17-41234541-C-T c.4237G>A p.E1413K Missense 12/23 - 1
17-41234542-A-T c.4236T>A p.A1412= Synonymous 12/23 - 1
17-41234542-A-G c.4236T>C p.A1412= Synonymous 12/23 - 1
17-41234542-A-C c.4236T>G p.A1412= Synonymous 12/23 - 1
17-41234544-C-T c.4234G>A p.A1412T Missense 12/23 - 1
17-41234546-A-G c.4232T>C p.M1411T Missense 12/23 - 10
17-41234550-C-A c.4228G>T p.E1410* Nonsense 12/23 - 2
17-41234550-C-T c.4228G>A p.E1410K Missense 12/23 - 1
17-41234549-TC-T c.4228del p.E1410Kfs*5 Frameshift 12/23 - 2
17-41234552-T-A c.4226A>T p.Q1409L Missense 12/23 - 1
17-41234553-G-A c.4225C>T p.Q1409* Nonsense 12/23 - 2
17-41234555-T-C c.4223A>G p.Q1408R Missense 12/23 - 1
17-41234556-G-A c.4222C>T p.Q1408* Nonsense 12/23 - 8
17-41234555-TG-T c.4222del p.Q1408Sfs*7 Frameshift 12/23 - 1
17-41234558-A-G c.4220T>C p.L1407P Missense 12/23 - 20
17-41234558-AG-GC c.4219_4220delinsGC p.L1407A Missense 12/23 - 1
17-41234558-A-T c.4220T>A p.L1407H Missense 12/23 - 1
17-41234560-GC-G c.4218del p.K1406Nfs*9 Frameshift 12/23 - 1
17-41234561-T-C c.4217A>G p.K1406R Missense 12/23 - 1
17-41234563-T-C c.4215A>G p.I1405M Missense 12/23 - 1
17-41234564-TA-T c.4214del p.I1405Kfs*10 Frameshift 12/23 - 2
17-41234564-A-G c.4214T>C p.I1405T Missense 12/23 - 1
17-41234565-T-C c.4213A>G p.I1405V Missense 12/23 - 7
17-41234566-C-A c.4212G>T p.L1404= Synonymous 12/23 - 1
17-41234566-C-T c.4212G>A p.L1404= Synonymous 12/23 - 1
17-41234566-C-G c.4212G>C p.L1404= Synonymous 12/23 - 1
17-41234567-A-G c.4211T>C p.L1404P Missense 12/23 - 2
17-41234567-A-C c.4211T>G p.L1404R Missense 12/23 - 1
17-41234567-CA-C c.4211del p.L1404Rfs*2 Frameshift 12/23 - 1
17-41234568-G-A c.4210C>T p.L1404= Synonymous 12/23 - 2
17-41234567-AG-A c.4210del p.L1404* Frameshift 12/23 - 1
17-41234571-T-G c.4207A>C p.N1403H Missense 12/23 - 1
17-41234573-T-C c.4205A>G p.H1402R Missense 12/23 - 1
17-41234574-G-A c.4204C>T p.H1402Y Missense 12/23 - 11
17-41234574-GT-G c.4203del p.Q1401Hfs*4 Frameshift 12/23 - 1
17-41234577-G-A c.4201C>T p.Q1401* Nonsense 12/23 - 1
17-41234578-C-G c.4200G>C p.M1400I Missense 12/23 - 2
17-41234578-C-T c.4200G>A p.M1400I Missense 12/23 - 2
17-41234578-C-A c.4200G>T p.M1400I Missense 12/23 - 2
17-41234579-A-C c.4199T>G p.M1400R Missense 12/23 - 1
17-41234579-A-G c.4199T>C p.M1400T Missense 12/23 - 2
17-41234579-A-T c.4199T>A p.M1400K Missense 12/23 - 1
17-41234580-T-C c.4198A>G p.M1400V Missense 12/23 - 7
17-41234580-TG-T c.4197del p.M1400Cfs*5 Frameshift 12/23 - 1
17-41234585-T-C c.4193A>G p.D1398G Missense 12/23 - 1
17-41234585-T-A c.4193A>T p.D1398V Missense 12/23 - 1
17-41234586-C-T c.4192G>A p.D1398N Missense 12/23 - 1
17-41234592-G-T c.4186C>A p.Q1396K Missense 12/23 - 1
17-41234592-G-A c.4186C>T p.Q1396* Nonsense 12/23 - 4
17-41234589-TCTG-T c.4186_4188del p.Q1396del SpliceAcceptorDeletion 12/23 11/22 1
17-41235799-G-A c.4186-1207C>T - IntronicSNV - 11/22 1
17-41237953-G-A c.4186-3361C>T - IntronicSNV - 11/22 2
17-41238619-C-T c.4186-4027G>A - IntronicSNV - 11/22 1
17-41238856-G-A c.4185+4105C>T - IntronicSNV - 11/22 1
17-41239346-AGAATCCCATATAGTAATTAAAAATGAAGTCACTTAAGAATTTTAACGACCCAGGCTGAG-A c.4185+3557_4185+3615del - SpliceDonorDeletion - 11/22 1
17-41240277-T-C c.4185+2684A>G - IntronicSNV - 11/22 6
17-41241390-C-A c.4185+1571G>T - IntronicSNV - 11/22 1
17-41241503-T-C c.4185+1458A>G - IntronicSNV - 11/22 1
17-41242849-G-T c.4185+112C>A - IntronicSNV - 11/22 2
17-41242932-G-A c.4185+29C>T - IntronicSNV - 11/22 1
17-41242938-GCACACACACACACGCTTTTTA-G c.4185+2_4185+22del - IntronicDeletion - 11/22 2
17-41242951-C-G c.4185+10G>C - IntronicSNV - 11/22 1
17-41242951-C-T c.4185+10G>A - IntronicSNV - 11/22 1
17-41242952-G-A c.4185+9C>T - IntronicSNV - 11/22 2
17-41242953-GC-G c.4185+8del - IntronicDeletion - 11/22 2
17-41242958-T-C c.4185+3A>G - IntronicSNV - 11/22 2
17-41242957-TTACC-T c.4185_4185+3del - SpliceDonorDeletion 11/23 11/22 1
17-41242959-A-G c.4185+2T>C - IntronicSNV - 11/22 1
17-41242960-C-T c.4185+1G>A - IntronicSNV - 11/22 6
17-41242960-C-A c.4185+1G>T - IntronicSNV - 11/22 2
17-41242961-C-G c.4185G>C p.Q1395H Missense 11/23 - 1
17-41242961-C-T c.4185G>A p.Q1395= Synonymous 11/23 - 9
17-41242962-T-A c.4184A>T p.Q1395L Missense 11/23 - 1
17-41242962-TG-GA c.4183_4184delinsTC p.Q1395S Missense 11/23 - 1
17-41242962-T-C c.4184A>G p.Q1395R Missense 11/23 - 2
17-41242963-G-A c.4183C>T p.Q1395* Nonsense 11/23 - 21
17-41242962-T-TGA c.4182_4183dup p.Q1395Lfs*11 Frameshift 11/23 - 1
17-41242965-G-A c.4181C>T p.T1394I Missense 11/23 - 4
17-41242965-GT-CC c.4180_4181delinsGG p.T1394G Missense 11/23 - 1
17-41242967-G-T c.4179C>A p.T1393= Synonymous 11/23 - 1
17-41242971-A-G c.4175T>C p.L1392S Missense 11/23 - 2
17-41242973-A-G c.4173T>C p.I1391= Synonymous 11/23 - 1
17-41242973-A-T c.4173T>A p.I1391= Synonymous 11/23 - 1
17-41242974-A-G c.4172T>C p.I1391T Missense 11/23 - 2
17-41242975-AT-A c.4171del p.I1391Ffs*2 Frameshift 11/23 - 1
17-41242976-G-A c.4170C>T p.D1390= Synonymous 11/23 - 1
17-41242977-T-C c.4169A>G p.D1390G Missense 11/23 - 1
17-41242979-A-G c.4167T>C p.S1389= Synonymous 11/23 - 4
17-41242980-C-T c.4166G>A p.S1389N Missense 11/23 - 1
17-41242979-ACT-A c.4165_4166del p.S1389* Frameshift 11/23 - 9
17-41242982-C-CT c.4163dup p.S1389Efs*2 Frameshift 11/23 - 2
17-41242983-T-A c.4163A>T p.Q1388L Missense 11/23 - 1
17-41242984-G-A c.4162C>T p.Q1388* Nonsense 11/23 - 2
17-41242984-TG-T c.4162del p.Q1388Rfs*5 Frameshift 11/23 - 1
17-41242985-AGA-TTG c.4159_4161delinsCAA p.S1387Q Missense 11/23 - 1
17-41242983-TGAGAG-T c.4158_4162del p.S1387Efs*2 Frameshift 11/23 - 6
17-41242987-A-G c.4159T>C p.S1387P Missense 11/23 - 3
17-41242987-A-C c.4159T>G p.S1387A Missense 11/23 - 8
17-41242983-TGA-T c.4161_4162del p.Q1388Efs*2 Frameshift 11/23 - 3
17-41242988-G-A c.4158C>T p.S1386= Synonymous 11/23 - 1
17-41242988-G-C c.4158C>G p.S1386= Synonymous 11/23 - 1
17-41242988-G-T c.4158C>A p.S1386= Synonymous 11/23 - 1
17-41242991-T-A c.4155A>T p.L1385= Synonymous 11/23 - 1
17-41242991-T-C c.4155A>G p.L1385= Synonymous 11/23 - 1
17-41242991-T-G c.4155A>C p.L1385= Synonymous 11/23 - 1
17-41242993-G-A c.4153C>T p.L1385= Synonymous 11/23 - 1
17-41242992-TAG-T c.4153_4154del p.L1385Ifs*5 Frameshift 11/23 - 1
17-41242996-C-A c.4150G>T p.G1384W Missense 11/23 - 1
17-41242998-G-C c.4148C>G p.S1383* Nonsense 11/23 - 6
17-41243001-GC-G c.4145del p.C1382Sfs*11 Frameshift 11/23 - 1
17-41243005-C-A c.4141G>T p.D1381Y Missense 11/23 - 1
17-41243008-CAG-C c.4136_4137del p.S1379* Frameshift 11/23 - 5
17-41243012-G-A c.4134C>T p.V1378= Synonymous 11/23 - 3
17-41243012-G-T c.4134C>A p.V1378= Synonymous 11/23 - 1
17-41243012-G-C c.4134C>G p.V1378= Synonymous 11/23 - 1
17-41243014-C-T c.4132G>A p.V1378I Missense 11/23 - 3
17-41243014-C-A c.4132G>T p.V1378F Missense 11/23 - 1
17-41243016-GCT-G c.4129_4130del p.S1377Rfs*3 Frameshift 11/23 - 1
17-41243016-C-T c.4130G>A p.S1377N Missense 11/23 - 1
17-41243017-T-A c.4129A>T p.S1377C Missense 11/23 - 1
17-41243019-G-C c.4127C>G p.T1376R Missense 11/23 - 1
17-41243019-TG-T c.4127del p.T1376Kfs*17 Frameshift 11/23 - 1
17-41243023-C-A c.4123G>T p.E1375* Nonsense 11/23 - 1
17-41243024-A-C c.4122T>G p.S1374R Missense 11/23 - 1
17-41243024-A-T c.4122T>A p.S1374R Missense 11/23 - 1
17-41243026-T-G c.4120A>C p.S1374R Missense 11/23 - 1
17-41243022-TCA-T c.4122_4123del p.S1374Rfs*6 Frameshift 11/23 - 7
17-41243026-T-A c.4120A>T p.S1374C Missense 11/23 - 1
17-41243027-TCTC-T c.4117_4119del p.E1373del InFrameDeletion 11/23 - 1
17-41243024-ACT-A c.4120_4121del p.S1374* Frameshift 11/23 - 1
17-41243029-C-A c.4117G>T p.E1373* Nonsense 11/23 - 21
17-41243028-TCACAC-T c.4113_4117del p.C1372Efs*2 Frameshift 11/23 - 1
17-41243031-C-T c.4115G>A p.C1372Y Missense 11/23 - 3
17-41243031-C-CT c.4114_4115insA p.C1372* Nonsense 11/23 - 1
17-41243033-C-T c.4113G>A p.G1371= Synonymous 11/23 - 1
17-41243033-C-A c.4113G>T p.G1371= Synonymous 11/23 - 1
17-41243035-C-T c.4111G>A p.G1371R Missense 11/23 - 1
17-41243032-AC-A c.4113del p.C1372Vfs*21 Frameshift 11/23 - 1
17-41243037-G-A c.4109C>T p.S1370F Missense 11/23 - 1
17-41243038-GA-G c.4108del p.S1370Lfs*23 Frameshift 11/23 - 1
17-41243040-TG-T c.4106del p.A1369Dfs*24 Frameshift 11/23 - 1
17-41243043-G-A c.4103C>T p.A1368V Missense 11/23 - 2
17-41243047-C-A c.4099G>T p.E1367* Nonsense 11/23 - 1
17-41243049-C-T c.4097G>A p.G1366D Missense 11/23 - 1
17-41243050-C-T c.4097-1G>A - IntronicSNV - 10/22 1
17-41243051-T-C c.4097-2A>G - IntronicSNV - 10/22 1
17-41243051-T-G c.4097-2A>C - IntronicSNV - 10/22 1
17-41243190-T-A c.4097-141A>T - IntronicSNV - 10/22 5
17-41243190-T-G c.4097-141A>C - IntronicSNV - 10/22 5
17-41243438-ACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCT-A c.4071_4096+14del - SpliceDonorDeletion 10/23 10/22 1
17-41243449-T-C c.4096+3A>G - IntronicSNV - 10/22 11
17-41243449-T-G c.4096+3A>C - IntronicSNV - 10/22 1
17-41243451-C-T c.4096+1G>A - IntronicSNV - 10/22 5
17-41243452-C-T c.4096G>A p.G1366S Missense 10/23 - 1
17-41243452-C-G c.4096G>C p.G1366R Missense 10/23 - 1
17-41243452-CCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTT-C c.4038_4096del p.R1347* SpliceDonorDeletion 10/23 - 1
17-41243453-CTAA-C c.4093_4095del p.L1365del InFrameDeletion 10/23 - 1
17-41243454-A-C c.4094T>G p.L1365* Nonsense 10/23 - 1
17-41243454-TAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTTTC-T c.4036_4094del p.E1346Rfs*2 Unclassified 10/23 - 1
17-41243455-A-C c.4093T>G p.L1365V Missense 10/23 - 2
17-41243453-TA-T c.4094del p.L1365* Frameshift 10/23 - 2
17-41243455-A-G c.4093T>C p.L1365= Synonymous 10/23 - 1
17-41243453-T-C c.4095A>G p.L1365= Synonymous 10/23 - 1
17-41243456-G-A c.4092C>T p.N1364= Synonymous 10/23 - 1
17-41243460-G-A c.4088C>T p.S1363L Missense 10/23 - 2
17-41243460-G-C c.4088C>G p.S1363* Nonsense 10/23 - 4
17-41243463-T-C c.4085A>G p.D1362G Missense 10/23 - 1
17-41243464-C-T c.4084G>A p.D1362N Missense 10/23 - 1
17-41243464-C-G c.4084G>C p.D1362H Missense 10/23 - 1
17-41243467-T-G c.4081A>C p.M1361L Missense 10/23 - 3
17-41243467-T-C c.4081A>G p.M1361V Missense 10/23 - 1
17-41243468-TG-T c.4080del p.S1360Rfs*6 Frameshift 10/23 - 1
17-41243468-G-A c.4080C>T p.S1360= Synonymous 10/23 - 1
17-41243470-T-C c.4078A>G p.S1360G Missense 10/23 - 1
17-41243473-G-C c.4075C>G p.Q1359E Missense 10/23 - 1
17-41243473-G-A c.4075C>T p.Q1359* Nonsense 10/23 - 1
17-41243473-G-T c.4075C>A p.Q1359K Missense 10/23 - 1
17-41243476-C-T c.4072G>A p.E1358K Missense 10/23 - 2
17-41243473-GCT-G c.4073_4074del p.E1358Afs*9 Frameshift 10/23 - 1
17-41243477-CTTCTT-C c.4067_4071del p.Q1356Rfs*10 Frameshift 10/23 - 2
17-41243477-CTT-C c.4070_4071del p.E1357Gfs*10 Frameshift 10/23 - 1
17-41243478-T-TTCAA c.4069_4070insTTGA p.E1357Vfs*12 Frameshift 10/23 - 1
17-41243479-C-A c.4069G>T p.E1357* Nonsense 10/23 - 1
17-41243479-TCTTG-T c.4066_4069del p.Q1356Kfs*9 Frameshift 10/23 - 2
17-41243474-CTCT-C c.4071_4073del p.E1358del InFrameDeletion 10/23 - 1
17-41243481-T-C c.4067A>G p.Q1356R Missense 10/23 - 1
17-41243479-CTTGA-C c.4065_4068del p.N1355Kfs*10 Frameshift 10/23 - 87
17-41243482-G-T c.4066C>A p.Q1356K Missense 10/23 - 1
17-41243482-G-A c.4066C>T p.Q1356* Nonsense 10/23 - 1
17-41243483-A-C c.4065T>G p.N1355K Missense 10/23 - 1
17-41243483-A-T c.4065T>A p.N1355K Missense 10/23 - 1
17-41243483-GA-G c.4065del p.Q1356Kfs*10 Frameshift 10/23 - 1
17-41243482-GATT-G c.4063_4065del p.N1355del InFrameDeletion 10/23 - 4
17-41243485-T-TA c.4062dup p.N1355* Nonsense 10/23 - 2
17-41243486-A-AT c.4061dup p.N1354Kfs*2 Frameshift 10/23 - 1
17-41243491-C-A c.4057G>T p.E1353* Nonsense 10/23 - 1
17-41243494-C-T c.4054G>A p.E1352K Missense 10/23 - 9
17-41243487-TTTTCTTCCAAGCCCGTTCCTC-T c.4040_4060del p.R1347_E1353del InFrameDeletion 10/23 - 1
17-41243495-C-A c.4053G>T p.L1351F Missense 10/23 - 1
17-41243495-C-G c.4053G>C p.L1351F Missense 10/23 - 1
17-41243496-A-T c.4052T>A p.L1351* Nonsense 10/23 - 1
17-41243500-C-A c.4048G>T p.G1350C Missense 10/23 - 1
17-41243498-G-GC c.4049dup p.E1352Gfs*4 Frameshift 10/23 - 1
17-41243502-G-A c.4046C>T p.T1349M Missense 10/23 - 7
17-41243502-G-C c.4046C>G p.T1349R Missense 10/23 - 2
17-41243502-GT-CC c.4045_4046delinsGG p.T1349G Missense 10/23 - 1
17-41243502-G-T c.4046C>A p.T1349K Missense 10/23 - 1
17-41243503-T-C c.4045A>G p.T1349A Missense 10/23 - 1
17-41243503-T-G c.4045A>C p.T1349P Missense 10/23 - 3
17-41243506-C-A c.4042G>T p.G1348* Nonsense 10/23 - 3
17-41243504-TC-T c.4043del p.G1348Efs*18 Frameshift 10/23 - 3
17-41243506-C-T c.4042G>A p.G1348R Missense 10/23 - 1
17-41243506-C-G c.4042G>C p.G1348R Missense 10/23 - 1
17-41243505-CCT-C c.4041_4042del p.G1348Nfs*7 Frameshift 10/23 - 11
17-41243508-C-G c.4040G>C p.R1347T Missense 10/23 - 1
17-41243509-T-C c.4039A>G p.R1347G Missense 10/23 - 41
17-41243509-T-A c.4039A>T p.R1347* Nonsense 10/23 - 5
17-41243511-T-C c.4037A>G p.E1346G Missense 10/23 - 1
17-41243512-C-T c.4036G>A p.E1346K Missense 10/23 - 6
17-41243512-CTTC-TTT c.4033_4036delinsAAA p.E1345Kfs*21 Frameshift 10/23 - 1
17-41243513-TTCATC-G c.4030_4035delinsC p.D1344Rfs*10 Frameshift 10/23 - 1
17-41243512-CT-C c.4035del p.E1346Kfs*20 Frameshift 10/23 - 74
17-41243515-C-A c.4033G>T p.E1345* Nonsense 10/23 - 1
17-41243515-C-T c.4033G>A p.E1345K Missense 10/23 - 2
17-41243515-C-CA c.4032dup p.E1345* Nonsense 10/23 - 1
17-41243517-T-C c.4031A>G p.D1344G Missense 10/23 - 2
17-41243518-C-G c.4030G>C p.D1344H Missense 10/23 - 1
17-41243518-TC-T c.4030del p.D1344Mfs*22 Frameshift 10/23 - 1
17-41243520-T-A c.4028A>T p.D1343V Missense 10/23 - 1
17-41243522-T-A c.4026A>T p.S1342= Synonymous 10/23 - 2
17-41243522-T-C c.4026A>G p.S1342= Synonymous 10/23 - 2
17-41243522-T-G c.4026A>C p.S1342= Synonymous 10/23 - 2
17-41243523-G-A c.4025C>T p.S1342L Missense 10/23 - 1
17-41243524-A-C c.4024T>G p.S1342A Missense 10/23 - 1
17-41243528-C-A c.4020G>T p.L1340F Missense 10/23 - 1
17-41243528-C-G c.4020G>C p.L1340F Missense 10/23 - 1
17-41243533-C-T c.4015G>A p.E1339K Missense 10/23 - 2
17-41243533-C-A c.4015G>T p.E1339* Nonsense 10/23 - 2
17-41243535-T-C c.4013A>G p.K1338R Missense 10/23 - 1
17-41243534-CT-C c.4013del p.K1338Rfs*28 Frameshift 10/23 - 2
17-41243538-T-C c.4010A>G p.D1337G Missense 10/23 - 1
17-41243539-C-G c.4009G>C p.D1337H Missense 10/23 - 2
17-41243539-C-A c.4009G>T p.D1337Y Missense 10/23 - 1
17-41243540-A-G c.4008T>C p.S1336= Synonymous 10/23 - 1
17-41243541-C-T c.4007G>A p.S1336N Missense 10/23 - 1
17-41243542-T-C c.4006A>G p.S1336G Missense 10/23 - 1
17-41243543-C-A c.4005G>T p.L1335= Synonymous 10/23 - 1
17-41243543-C-T c.4005G>A p.L1335= Synonymous 10/23 - 1
17-41243543-C-G c.4005G>C p.L1335= Synonymous 10/23 - 1
17-41243545-G-A c.4003C>T p.L1335= Synonymous 10/23 - 1
17-41243539-CACTCAGACCA-C c.3999_4008del p.G1334Tfs*29 Frameshift 10/23 - 2
17-41243550-A-G c.3998T>C p.V1333A Missense 10/23 - 1
17-41243548-CA-C c.3999del p.G1334Vfs*2 Frameshift 10/23 - 2
17-41243552-T-A c.3996A>T p.G1332= Synonymous 10/23 - 1
17-41243552-T-C c.3996A>G p.G1332= Synonymous 10/23 - 1
17-41243552-T-G c.3996A>C p.G1332= Synonymous 10/23 - 1
17-41243553-C-A c.3995G>T p.G1332V Missense 10/23 - 2
17-41243557-G-A c.3991C>T p.Q1331* Nonsense 10/23 - 7
17-41243558-G-A c.3990C>T p.S1330= Synonymous 10/23 - 2
17-41243562-T-C c.3986A>G p.E1329G Missense 10/23 - 1
17-41243563-C-G c.3985G>C p.E1329Q Missense 10/23 - 1
17-41243565-G-A c.3983C>T p.S1328F Missense 10/23 - 1
17-41243565-G-GA c.3982dup p.S1328Ffs*2 Frameshift 10/23 - 1
17-41243567-C-A c.3981G>T p.Q1327H Missense 10/23 - 1
17-41243567-C-G c.3981G>C p.Q1327H Missense 10/23 - 1
17-41243567-C-T c.3981G>A p.Q1327= Synonymous 10/23 - 1
17-41243569-G-A c.3979C>T p.Q1327* Nonsense 10/23 - 6
17-41243570-A-C c.3978T>G p.H1326Q Missense 10/23 - 1
17-41243569-G-GAGCA c.3978_3979insTGCT p.Q1327Cfs*4 Frameshift 10/23 - 1
17-41243570-A-G c.3978T>C p.H1326= Synonymous 10/23 - 1
17-41243571-T-C c.3977A>G p.H1326R Missense 10/23 - 1
17-41243573-C-T c.3975G>A p.R1325= Synonymous 10/23 - 1
17-41243575-T-G c.3973A>C p.R1325= Synonymous 10/23 - 1
17-41243573-C-CAGCA c.3974_3975insTGCT p.R1325Sfs*6 Frameshift 10/23 - 1
17-41243572-GC-G c.3975del p.R1325Sfs*11 Frameshift 10/23 - 1
17-41243577-CA-C c.3971del p.M1324Rfs*12 Frameshift 10/23 - 1
17-41243577-A-G c.3971T>C p.M1324T Missense 10/23 - 1
17-41243577-CATTT-C c.3968_3971del p.Q1323Rfs*12 Frameshift 10/23 - 1
17-41243581-G-A c.3967C>T p.Q1323* Nonsense 10/23 - 6
17-41243581-GT-G c.3966del p.K1322Nfs*3 Frameshift 10/23 - 2
17-41243584-T-C c.3964A>G p.K1322E Missense 10/23 - 1
17-41243587-A-G c.3961T>C p.S1321P Missense 10/23 - 1
17-41243589-G-A c.3959C>T p.S1320F Missense 10/23 - 1
17-41243592-C-A c.3956G>T p.G1319V Missense 10/23 - 1
17-41243593-C-T c.3955G>A p.G1319S Missense 10/23 - 1
17-41243593-C-CA c.3954dup p.G1319Wfs*11 Frameshift 10/23 - 1
17-41243595-A-G c.3953T>C p.I1318T Missense 10/23 - 1
17-41243596-T-G c.3952A>C p.I1318L Missense 10/23 - 2
17-41243596-T-C c.3952A>G p.I1318V Missense 10/23 - 2
17-41243597-C-A c.3951G>T p.L1317F Missense 10/23 - 1
17-41243597-C-G c.3951G>C p.L1317F Missense 10/23 - 1
17-41243599-A-G c.3949T>C p.L1317= Synonymous 10/23 - 1
17-41243597-C-T c.3951G>A p.L1317= Synonymous 10/23 - 1
17-41243597-CAAGA-C c.3947_3950del p.F1316* Frameshift 10/23 - 2
17-41243604-G-GTA c.3943_3944insTA p.P1315Lfs*4 Frameshift 10/23 - 1
17-41243605-G-C c.3943C>G p.P1315A Missense 10/23 - 1
17-41243610-T-C c.3938A>G p.Q1313R Missense 10/23 - 1
17-41243611-G-A c.3937C>T p.Q1313* Nonsense 10/23 - 8
17-41243612-G-A c.3936C>T p.T1312= Synonymous 10/23 - 1
17-41243613-GTGTT-G c.3931_3934del p.N1311Pfs*6 Frameshift 10/23 - 1
17-41243619-G-T c.3929C>A p.T1310K Missense 10/23 - 4
17-41243619-G-A c.3929C>T p.T1310I Missense 10/23 - 1
17-41243619-G-GT c.3928dup p.T1310Nfs*20 Frameshift 10/23 - 1
17-41243623-T-C c.3925A>G p.N1309D Missense 10/23 - 1
17-41243625-G-A c.3923C>T p.A1308V Missense 10/23 - 1
17-41243626-C-A c.3922G>T p.A1308S Missense 10/23 - 1
17-41243628-G-T c.3920C>A p.T1307N Missense 10/23 - 1
17-41243629-GT-G c.3919del p.T1307Lfs*11 Frameshift 10/23 - 1
17-41243631-CAA-C c.3916_3917del p.L1306Dfs*23 Frameshift 10/23 - 22
17-41243638-C-CA c.3909_3910insT p.E1304* Nonsense 10/23 - 1
17-41243638-C-A c.3910G>T p.E1304* Nonsense 10/23 - 1
17-41243637-TC-T c.3910del p.E1304Kfs*3 Frameshift 10/23 - 3
17-41243644-C-A c.3904G>T p.E1302* Nonsense 10/23 - 3
17-41243646-C-T c.3902G>A p.S1301N Missense 10/23 - 1
17-41243648-TGCA-T c.3898_3900del p.C1300del InFrameDeletion 10/23 - 1
17-41243649-C-T c.3899G>A p.C1300Y Missense 10/23 - 1
17-41243653-G-A c.3895C>T p.Q1299* Nonsense 10/23 - 7
17-41243654-GTGA-G c.3892_3894del p.S1298del InFrameDeletion 10/23 - 1
17-41243654-T-A c.3894A>T p.S1298= Synonymous 10/23 - 1
17-41243654-T-C c.3894A>G p.S1298= Synonymous 10/23 - 1
17-41243654-T-G c.3894A>C p.S1298= Synonymous 10/23 - 1
17-41243655-G-T c.3893C>A p.S1298* Nonsense 10/23 - 2
17-41243655-G-C c.3893C>G p.S1298* Nonsense 10/23 - 2
17-41243655-G-A c.3893C>T p.S1298L Missense 10/23 - 2
17-41243658-G-T c.3890C>A p.S1297Y Missense 10/23 - 1
17-41243662-ACAAG-A c.3882_3885del p.L1295Ffs*11 Frameshift 10/23 - 1
17-41243668-T-C c.3880A>G p.S1294G Missense 10/23 - 1
17-41243670-G-A c.3878C>T p.A1293V Missense 10/23 - 3
17-41243670-AGCAG-A c.3875_3878del p.S1292Lfs*14 Frameshift 10/23 - 1
17-41243671-GC-G c.3877del p.A1293Lfs*14 Frameshift 10/23 - 1
17-41243671-C-T c.3877G>A p.A1293T Missense 10/23 - 1
17-41243673-AG-A c.3875del p.S1292Lfs*15 Frameshift 10/23 - 3
17-41243675-A-T c.3873T>A p.C1291* Nonsense 10/23 - 1
17-41243675-ACA-CAT c.3871_3873delinsATG p.C1291M Missense 10/23 - 1
17-41243673-GA-G c.3874del p.S1292Lfs*15 Frameshift 10/23 - 2
17-41243679-T-A c.3869A>T p.K1290I Missense 10/23 - 1
17-41243680-T-C c.3868A>G p.K1290E Missense 10/23 - 3
17-41243677-ATT-A c.3869_3870del p.K1290Mfs*4 Frameshift 10/23 - 5
17-41243680-T-A c.3868A>T p.K1290* Nonsense 10/23 - 2
17-41243677-A-AT c.3870dup p.C1291Mfs*4 Frameshift 10/23 - 1
17-41243681-TTGTTTCCTCA-T c.3858_3867del p.S1286Rfs*18 Frameshift 10/23 - 1
17-41243688-CT-C c.3860del p.E1287Gfs*20 Frameshift 10/23 - 1
17-41243686-CCTCA-C c.3858_3861del p.S1286Rfs*20 Frameshift 10/23 - 16
17-41243689-TC-T c.3859del p.E1287Rfs*20 Frameshift 10/23 - 2
17-41243690-CA-C c.3858del p.S1286Rfs*21 Frameshift 10/23 - 1
17-41243691-C-T c.3857G>A p.S1286N Missense 10/23 - 1
17-41243691-C-G c.3857G>C p.S1286T Missense 10/23 - 1
17-41243692-CT-C c.3856del p.S1286Vfs*21 Frameshift 10/23 - 2
17-41243692-T-TA c.3855dup p.S1286* Nonsense 10/23 - 1
17-41243697-T-C c.3851A>G p.H1284R Missense 10/23 - 1
17-41243700-T-C c.3848A>G p.H1283R Missense 10/23 - 1
17-41243701-G-A c.3847C>T p.H1283Y Missense 10/23 - 2
17-41243699-ATG-A c.3847_3848del p.H1283Sfs*3 Frameshift 10/23 - 1
17-41243703-T-A c.3845A>T p.E1282V Missense 10/23 - 1
17-41243703-T-C c.3845A>G p.E1282G Missense 10/23 - 1
17-41243704-C-G c.3844G>C p.E1282Q Missense 10/23 - 1
17-41243704-C-T c.3844G>A p.E1282K Missense 10/23 - 1
17-41243705-CTGAG-GCCT c.3839_3843delinsAGGC p.S1280* Frameshift 10/23 - 4
17-41243705-CCTGAG-C c.3839_3843del p.S1280* Frameshift 10/23 - 1
17-41243706-T-G c.3842A>C p.Q1281P Missense 10/23 - 2
17-41243707-G-A c.3841C>T p.Q1281* Nonsense 10/23 - 14
17-41243707-TGAG-T c.3839_3841del p.S1280_Q1281delins* MultiAAMissense 10/23 - 1
17-41243707-G-GTCAT c.3840_3841insATGA p.Q1281Mfs*7 Frameshift 10/23 - 1
17-41243712-G-A c.3836C>T p.A1279V Missense 10/23 - 1
17-41243712-G-T c.3836C>A p.A1279E Missense 10/23 - 1
17-41243713-C-T c.3835G>A p.A1279T Missense 10/23 - 1
17-41243712-GC-G c.3835del p.A1279Hfs*28 Frameshift 10/23 - 4
17-41243714-C-T c.3834G>A p.K1278= Synonymous 10/23 - 2
17-41243714-C-CT c.3833dup p.A1279Gfs*8 Frameshift 10/23 - 1
17-41243723-T-G c.3825A>C p.I1275= Synonymous 10/23 - 1
17-41243723-T-C c.3825A>G p.I1275M Missense 10/23 - 1
17-41243725-T-C c.3823A>G p.I1275V Missense 10/23 - 13
17-41243722-ATAT-A c.3823_3825del p.I1275del InFrameDeletion 10/23 - 1
17-41243724-A-AT c.3823dup p.I1275Nfs*12 Frameshift 10/23 - 1
17-41243724-ATTACC-A c.3819_3823del p.Q1273Hfs*12 Frameshift 10/23 - 2
17-41243728-C-T c.3820G>A p.V1274I Missense 10/23 - 1
17-41243727-AC-A c.3820del p.V1274* Frameshift 10/23 - 1
17-41243730-T-C c.3818A>G p.Q1273R Missense 10/23 - 1
17-41243731-G-A c.3817C>T p.Q1273* Nonsense 10/23 - 14
17-41243732-G-A c.3816C>T p.N1272= Synonymous 10/23 - 1
17-41243734-T-C c.3814A>G p.N1272D Missense 10/23 - 1
17-41243734-T-TA c.3813dup p.N1272* Nonsense 10/23 - 3
17-41243737-T-C c.3811A>G p.S1271G Missense 10/23 - 1
17-41243738-G-A c.3810C>T p.C1270= Synonymous 10/23 - 1
17-41243739-C-A c.3809G>T p.C1270F Missense 10/23 - 1
17-41243740-A-C c.3808T>G p.C1270G Missense 10/23 - 1
17-41243741-G-A c.3807C>T p.D1269= Synonymous 10/23 - 1
17-41243745-T-C c.3803A>G p.N1268S Missense 10/23 - 1
17-41243748-A-C c.3800T>G p.L1267* Nonsense 10/23 - 2
17-41243748-A-G c.3800T>C p.L1267S Missense 10/23 - 2
17-41243749-A-G c.3799T>C p.L1267= Synonymous 10/23 - 1
17-41243747-T-C c.3801A>G p.L1267= Synonymous 10/23 - 1
17-41243750-G-A c.3798C>T p.S1266= Synonymous 10/23 - 1
17-41243751-C-A c.3797G>T p.S1266I Missense 10/23 - 1
17-41243751-C-G c.3797G>C p.S1266T Missense 10/23 - 3
17-41243751-GCTA-G c.3795_3797del p.S1266del InFrameDeletion 10/23 - 1
17-41243760-AATG-A c.3785_3787del p.S1262del InFrameDeletion 10/23 - 1
17-41243765-T-A c.3783A>T p.L1261F Missense 10/23 - 1
17-41243766-A-C c.3782T>G p.L1261* Nonsense 10/23 - 1
17-41243766-A-G c.3782T>C p.L1261S Missense 10/23 - 1
17-41243766-AAT-A c.3780_3781del p.L1260Ffs*6 Frameshift 10/23 - 1
17-41243768-T-C c.3780A>G p.L1260= Synonymous 10/23 - 1
17-41243768-TA-T c.3779del p.L1260Yfs*4 Frameshift 10/23 - 7
17-41243774-C-A c.3774G>T p.E1258D Missense 10/23 - 2
17-41243776-CCT-C c.3770_3771del p.E1257Gfs*9 Frameshift 10/23 - 47
17-41243779-C-CA c.3768_3769insT p.E1257* Nonsense 10/23 - 1
17-41243779-CTG-C c.3767_3768del p.T1256Rfs*10 Frameshift 10/23 - 2
17-41243781-GTGTTC-G c.3762_3766del p.K1254Nfs*11 Frameshift 10/23 - 1
17-41243783-G-GT c.3764dup p.N1255Kfs*12 Frameshift 10/23 - 4
17-41243786-C-T c.3762G>A p.K1254= Synonymous 10/23 - 1
17-41243788-TTA-T c.3759_3760del p.K1254Efs*12 Frameshift 10/23 - 7
17-41243788-T-TA c.3759dup p.K1254* Nonsense 10/23 - 7
17-41243788-TAG-T c.3758_3759del p.S1253* Frameshift 10/23 - 5
17-41243790-G-C c.3758C>G p.S1253C Missense 10/23 - 1
17-41243792-C-A c.3756G>T p.L1252= Synonymous 10/23 - 1
17-41243792-C-T c.3756G>A p.L1252= Synonymous 10/23 - 1
17-41243792-C-G c.3756G>C p.L1252= Synonymous 10/23 - 1
17-41243794-G-A c.3754C>T p.L1252= Synonymous 10/23 - 1
17-41243793-A-T c.3755T>A p.L1252Q Missense 10/23 - 1
17-41243793-A-G c.3755T>C p.L1252P Missense 10/23 - 1
17-41243788-TAGAC-T c.3756_3759del p.S1253Rfs*10 Frameshift 10/23 - 69
17-41243792-CAG-C c.3754_3755del p.L1252Vfs*2 Frameshift 10/23 - 1
17-41243795-A-T c.3753T>A p.C1251* Nonsense 10/23 - 1
17-41243796-C-T c.3752G>A p.C1251Y Missense 10/23 - 1
17-41243798-C-T c.3750G>A p.E1250= Synonymous 10/23 - 1
17-41243798-AC-A c.3750del p.E1250Dfs*14 Frameshift 10/23 - 2
17-41243800-C-A c.3748G>T p.E1250* Nonsense 10/23 - 25
17-41243800-C-T c.3748G>A p.E1250K Missense 10/23 - 9
17-41243800-C-CA c.3747_3748insT p.E1250* Nonsense 10/23 - 1
17-41243801-G-A c.3747C>T p.T1249= Synonymous 10/23 - 1
17-41243801-G-T c.3747C>A p.T1249= Synonymous 10/23 - 1
17-41243801-G-C c.3747C>G p.T1249= Synonymous 10/23 - 1
17-41243800-CGGTA-C c.3744_3747del p.T1249Sfs*14 Frameshift 10/23 - 1
17-41243804-A-C c.3744T>G p.A1248= Synonymous 10/23 - 1
17-41243804-AGCAA-T c.3740_3744delinsA p.V1247Efs*16 Frameshift 10/23 - 1
17-41243805-G-A c.3743C>T p.A1248V Missense 10/23 - 2
17-41243806-GC-G c.3742del p.A1248Lfs*16 Frameshift 10/23 - 1
17-41243809-C-T c.3739G>A p.V1247I Missense 10/23 - 11
17-41243810-G-A c.3738C>T p.T1246= Synonymous 10/23 - 1
17-41243810-GG-CA c.3737_3738delinsTG p.T1246M Missense 10/23 - 1
17-41243811-G-T c.3737C>A p.T1246N Missense 10/23 - 2
17-41243809-CGGTGCTAT-C c.3731_3738del p.H1244Rfs*8 Frameshift 10/23 - 1
17-41243820-C-T c.3728G>A p.R1243K Missense 10/23 - 1
17-41243821-T-C c.3727A>G p.R1243G Missense 10/23 - 1
17-41243829-CTG-C c.3718_3719del p.Q1240Vfs*3 Frameshift 10/23 - 1
17-41243830-G-A c.3718C>T p.Q1240* Nonsense 10/23 - 6
17-41243834-A-C c.3714T>C p.P1238= Synonymous 10/23 - 1
17-41243832-GA-G c.3715del p.S1239Lfs*25 Frameshift 10/23 - 5
17-41243835-G-A c.3713C>T p.P1238L Missense 10/23 - 6
17-41243835-G-C c.3713C>G p.P1238R Missense 10/23 - 2
17-41243835-GG-AA c.3712_3713delinsTT p.P1238F Missense 10/23 - 1
17-41243837-T-C c.3711A>G p.I1237M Missense 10/23 - 3
17-41243838-TA-T c.3710del p.I1237Nfs*27 Frameshift 10/23 - 6
17-41243837-T-TA c.3710dup p.P1238Tfs*6 Frameshift 10/23 - 1
17-41243840-A-C c.3708T>G p.N1236K Missense 10/23 - 10
17-41243840-A-G c.3708T>C p.N1236= Synonymous 10/23 - 2
17-41243836-G-GTA c.3710_3711dup p.P1238Yfs*27 Frameshift 10/23 - 1
17-41243836-GTA-G c.3710_3711del p.I1237Tfs*6 Frameshift 10/23 - 1
17-41243841-T-C c.3707A>G p.N1236S Missense 10/23 - 4
17-41243841-ATT-A c.3706_3707del p.N1236Yfs*7 Frameshift 10/23 - 4
17-41243838-ATATTGTT-A c.3703_3709del p.N1235Yfs*27 Frameshift 10/23 - 1
17-41243847-AC-TG c.3700_3701delinsCA p.V1234Q Missense 10/23 - 2
17-41243845-TTAC-T c.3700_3702del p.V1234del InFrameDeletion 10/23 - 1
17-41243843-GTTTAC-G c.3700_3704del p.V1234Qfs*8 Frameshift 10/23 - 70
17-41243852-A-C c.3696T>G p.G1232= Synonymous 10/23 - 1
17-41243852-A-T c.3696T>A p.G1232= Synonymous 10/23 - 1
17-41243852-A-G c.3696T>C p.G1232= Synonymous 10/23 - 1
17-41243853-C-CTT c.3694_3695insAA p.G1232Efs*4 Frameshift 10/23 - 1
17-41243853-C-T c.3695G>A p.G1232D Missense 10/23 - 1
17-41243857-A-G c.3691T>C p.F1231L Missense 10/23 - 1
17-41243859-A-C c.3689T>G p.L1230* Nonsense 10/23 - 2
17-41243859-A-G c.3689T>C p.L1230S Missense 10/23 - 1
17-41243863-A-G c.3685T>C p.L1229= Synonymous 10/23 - 1
17-41243861-C-T c.3687G>A p.L1229= Synonymous 10/23 - 1
17-41243868-T-C c.3680A>G p.Q1227R Missense 10/23 - 1
17-41243869-G-A c.3679C>T p.Q1227* Nonsense 10/23 - 1
17-41243869-G-T c.3679C>A p.Q1227K Missense 10/23 - 2
17-41243870-G-A c.3678C>T p.F1226= Synonymous 10/23 - 1
17-41243870-G-C c.3678C>G p.F1226L Missense 10/23 - 2
17-41243873-G-T c.3675C>A p.C1225* Nonsense 10/23 - 1
17-41243877-G-A c.3671C>T p.P1224L Missense 10/23 - 2
17-41243874-C-CAGGA c.3673_3674insTCCT p.C1225Ffs*10 Frameshift 10/23 - 1
17-41243881-AGCTC-A c.3664_3667del p.E1222Ffs*12 Frameshift 10/23 - 1
17-41243884-C-A c.3664G>T p.E1222* Nonsense 10/23 - 3
17-41243884-TC-T c.3664del p.E1222Sfs*13 Frameshift 10/23 - 1
17-41243886-T-G c.3662A>C p.E1221A Missense 10/23 - 2
17-41243887-C-A c.3661G>T p.E1221* Nonsense 10/23 - 14
17-41243891-C-G c.3657G>C p.E1219D Missense 10/23 - 2
17-41243891-C-T c.3657G>A p.E1219= Synonymous 10/23 - 1
17-41243891-CTC-AAA c.3655_3657delinsTTT p.E1219F Missense 10/23 - 1
17-41243892-T-A c.3656A>T p.E1219V Missense 10/23 - 1
17-41243893-C-G c.3655G>C p.E1219Q Missense 10/23 - 1
17-41243893-C-T c.3655G>A p.E1219K Missense 10/23 - 2
17-41243893-C-A c.3655G>T p.E1219* Nonsense 10/23 - 1
17-41243894-CACTAGA-C c.3649_3654del p.S1217_S1218del InFrameDeletion 10/23 - 1
17-41243896-T-A c.3652A>T p.S1218C Missense 10/23 - 2
17-41243898-G-T c.3650C>A p.S1217Y Missense 10/23 - 1
17-41243898-G-GT c.3649_3650insA p.S1217Yfs*2 Frameshift 10/23 - 3
17-41243898-G-A c.3650C>T p.S1217F Missense 10/23 - 1
17-41243899-A-G c.3649T>C p.S1217P Missense 10/23 - 9
17-41243899-GA-G c.3649del p.S1217Lfs*18 Frameshift 10/23 - 1
17-41243899-A-AT c.3648dup p.S1217Ifs*2 Frameshift 10/23 - 5
17-41243899-ATAAGT-A c.3644_3648del p.N1215Ifs*2 Frameshift 10/23 - 5
17-41243906-C-G c.3642G>C p.E1214D Missense 10/23 - 1
17-41243906-C-A c.3642G>T p.E1214D Missense 10/23 - 1
17-41243907-T-C c.3641A>G p.E1214G Missense 10/23 - 1
17-41243908-C-A c.3640G>T p.E1214* Nonsense 10/23 - 9
17-41243908-C-T c.3640G>A p.E1214K Missense 10/23 - 8
17-41243904-TTC-T c.3642_3643del p.N1215Lfs*3 Frameshift 10/23 - 1
17-41243910-TC-CT c.3637_3638delinsAG p.E1213R Missense 10/23 - 1
17-41243909-TTC-T c.3637_3638del p.E1213Rfs*5 Frameshift 10/23 - 1
17-41243911-C-A c.3637G>T p.E1213* Nonsense 10/23 - 2
17-41243913-G-C c.3635C>G p.S1212* Nonsense 10/23 - 2
17-41243913-G-T c.3635C>A p.S1212* Nonsense 10/23 - 1
17-41243914-A-G c.3634T>C p.S1212P Missense 10/23 - 2
17-41243915-GG-TT c.3632_3633delinsAA p.S1211* Nonsense 10/23 - 1
17-41243920-C-CT c.3627dup p.E1210Rfs*9 Frameshift 10/23 - 29
17-41243922-A-T c.3626T>A p.L1209* Nonsense 10/23 - 1
17-41243922-A-C c.3626T>G p.L1209* Nonsense 10/23 - 4
17-41243922-A-G c.3626T>C p.L1209S Missense 10/23 - 1
17-41243922-AATTTCTTGGCCCCTCTTCGGTAACCCTGAGCCAAA-TT c.3591_3626delinsAA p.H1197Qfs*27 Frameshift 10/23 - 1
17-41243921-TA-T c.3626del p.L1209* Frameshift 10/23 - 7
17-41243923-A-C c.3625T>G p.L1209V Missense 10/23 - 1
17-41243923-A-G c.3625T>C p.L1209= Synonymous 10/23 - 1
17-41243921-T-C c.3627A>G p.L1209= Synonymous 10/23 - 1
17-41243924-T-G c.3624A>C p.K1208N Missense 10/23 - 1
17-41243925-T-G c.3623A>C p.K1208T Missense 10/23 - 1
17-41243923-A-AT c.3624dup p.L1209Ifs*10 Frameshift 10/23 - 1
17-41243923-AT-A c.3624del p.K1208Nfs*2 Frameshift 10/23 - 2
17-41243927-TC-T c.3621del p.K1208Nfs*2 Frameshift 10/23 - 1
17-41243927-C-T c.3621G>A p.K1207= Synonymous 10/23 - 1
17-41243930-G-A c.3618C>T p.A1206= Synonymous 10/23 - 1
17-41243934-C-T c.3614G>A p.G1205E Missense 10/23 - 2
17-41243935-C-T c.3613G>A p.G1205R Missense 10/23 - 2
17-41243935-C-G c.3613G>C p.G1205R Missense 10/23 - 1
17-41243936-CT-C c.3612del p.A1206Pfs*4 Frameshift 10/23 - 2
17-41243937-CT-TG c.3610_3611delinsCA p.R1204Q Missense 10/23 - 1
17-41243940-C-T c.3608G>A p.R1203Q Missense 10/23 - 6
17-41243940-CG-GT c.3607_3608delinsAC p.R1203T Missense 10/23 - 1
17-41243941-G-A c.3607C>T p.R1203* Nonsense 10/23 - 58
17-41243941-G-C c.3607C>G p.R1203G Missense 10/23 - 2
17-41243942-G-A c.3606C>T p.Y1202= Synonymous 10/23 - 1
17-41243945-A-T c.3603T>A p.G1201= Synonymous 10/23 - 1
17-41243945-ACC-A c.3601_3602del p.G1201Lfs*17 Frameshift 10/23 - 1
17-41243947-C-T c.3601G>A p.G1201S Missense 10/23 - 3
17-41243948-CCT-C c.3599_3600del p.Q1200Rfs*18 Frameshift 10/23 - 3
17-41243948-C-G c.3600G>C p.Q1200H Missense 10/23 - 9
17-41243948-C-A c.3600G>T p.Q1200H Missense 10/23 - 6
17-41243945-AC-A c.3602del p.G1201Vfs*9 Frameshift 10/23 - 1
17-41243948-C-T c.3600G>A p.Q1200= Synonymous 10/23 - 1
17-41243949-T-A c.3599A>T p.Q1200L Missense 10/23 - 1
17-41243949-T-C c.3599A>G p.Q1200R Missense 10/23 - 1
17-41243949-T-G c.3599A>C p.Q1200P Missense 10/23 - 1