CPAMD8

CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8

Annotation transcript: NM_015692.5

2491 unique variant annotations were identified in 634 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
19-17003789-T-A c.*130A>T - 3-UTRSNV 42/42 - 13
19-17003789-T-G c.*130A>C - 3-UTRSNV 42/42 - 13
19-17003921-A-C c.5656T>G p.*1886Eext*? Missense 42/42 - 1
19-17003921-A-G c.5656T>C p.*1886Qext*? Missense 42/42 - 1
19-17003925-C-A c.5652G>T p.L1884F Missense 42/42 - 1
19-17003925-C-G c.5652G>C p.L1884F Missense 42/42 - 2
19-17003931-G-C c.5646C>G p.C1882W Missense 42/42 - 2
19-17003939-T-C c.5638A>G p.N1880D Missense 42/42 - 3
19-17003948-A-G c.5629T>C p.W1877R Missense 42/42 - 1
19-17003949-T-G c.5628A>C p.L1876F Missense 42/42 - 1
19-17003952-A-C c.5625T>G p.G1875= Synonymous 42/42 - 3
19-17003952-A-G c.5625T>C p.G1875= Synonymous 42/42 - 1
19-17003952-A-T c.5625T>A p.G1875= Synonymous 42/42 - 1
19-17003954-C-T c.5623G>A p.G1875S Missense 42/42 - 1
19-17003962-C-T c.5615G>A p.G1872E Missense 42/42 - 1
19-17003963-C-T c.5614G>A p.G1872R Missense 42/42 - 1
19-17003968-C-T c.5609G>A p.S1870N Missense 42/42 - 1
19-17003977-G-A c.5600C>T p.A1867V Missense 42/42 - 1
19-17003978-C-T c.5599G>A p.A1867T Missense 42/42 - 1
19-17003979-T-A c.5598A>T p.P1866= Synonymous 42/42 - 2
19-17003979-T-C c.5598A>G p.P1866= Synonymous 42/42 - 1
19-17003979-T-G c.5598A>C p.P1866= Synonymous 42/42 - 1
19-17003983-C-A c.5594G>T p.S1865I Missense 42/42 - 1
19-17003983-CT-GG c.5593_5594delinsCC p.S1865P Missense 42/42 - 1
19-17003985-G-A c.5592C>T p.Y1864= Synonymous 42/42 - 1
19-17003986-T-C c.5591A>G p.Y1864C Missense 42/42 - 1
19-17003989-A-G c.5588T>C p.V1863A Missense 42/42 - 1
19-17003990-C-A c.5587G>T p.V1863F Missense 42/42 - 1
19-17003990-C-T c.5587G>A p.V1863I Missense 42/42 - 1
19-17003991-G-A c.5586C>T p.F1862= Synonymous 42/42 - 1
19-17003993-A-C c.5584T>G p.F1862V Missense 42/42 - 1
19-17003992-AAG-A c.5583_5584del p.F1862Rfs*61 Frameshift 42/42 - 1
19-17003994-G-A c.5583C>T p.V1861= Synonymous 42/42 - 3
19-17003994-G-C c.5583C>G p.V1861= Synonymous 42/42 - 4
19-17003994-G-T c.5583C>A p.V1861= Synonymous 42/42 - 3
19-17004004-A-C c.5573T>G p.L1858R Missense 42/42 - 1
19-17004007-A-G c.5570T>C p.L1857P Missense 42/42 - 1
19-17004013-G-A c.5564C>T p.P1855L Missense 42/42 - 4
19-17004018-G-C c.5559C>G p.H1853Q Missense 42/42 - 1
19-17004023-C-T c.5554G>A p.A1852T Missense 42/42 - 1
19-17004034-C-T c.5543G>A p.R1848Q Missense 42/42 - 1
19-17004035-G-A c.5542C>T p.R1848W Missense 42/42 - 1
19-17004044-G-A c.5533C>T p.H1845Y Missense 42/42 - 1
19-17004047-T-C c.5530A>G p.R1844G Missense 42/42 - 1
19-17004050-G-A c.5527C>T p.Q1843* Nonsense 42/42 - 1
19-17004057-C-T c.5520G>A p.P1840= Synonymous 42/42 - 1
19-17004058-G-A c.5519C>T p.P1840L Missense 42/42 - 1
19-17004059-G-A c.5518C>T p.P1840S Missense 42/42 - 2
19-17004063-C-G c.5514G>C p.Q1838H Missense 42/42 - 1
19-17004076-T-C c.5501A>G p.H1834R Missense 42/42 - 1
19-17004078-G-T c.5499C>A p.F1833L Missense 42/42 - 1
19-17004078-G-C c.5499C>G p.F1833L Missense 42/42 - 1
19-17004081-C-A c.5496G>T p.P1832= Synonymous 42/42 - 1
19-17004081-C-G c.5496G>C p.P1832= Synonymous 42/42 - 2
19-17004081-C-T c.5496G>A p.P1832= Synonymous 42/42 - 2
19-17004084-G-A c.5493C>T p.S1831= Synonymous 42/42 - 2
19-17004089-C-T c.5488G>A p.A1830T Missense 42/42 - 5
19-17004107-C-T c.5470G>A p.E1824K Missense 42/42 - 2
19-17004113-T-C c.5464A>G p.N1822D Missense 42/42 - 1
19-17004116-C-G c.5461G>C p.G1821R Missense 42/42 - 1
19-17004116-C-T c.5461G>A p.G1821R Missense 42/42 - 2
19-17004133-C-T c.5444G>A p.R1815Q Missense 42/42 - 2
19-17005137-T-C c.5427-987A>G - intron_variant - 41/41 1
19-17005151-C-A c.5427-1001G>T - intron_variant - 41/41 1
19-17005151-C-T c.5427-1001G>A - intron_variant - 41/41 1
19-17005182-A-G c.5427-1032T>C - intron_variant - 41/41 1
19-17005184-G-A c.5427-1034C>T - intron_variant - 41/41 1
19-17005184-G-T c.5427-1034C>A - intron_variant - 41/41 1
19-17005387-T-A c.5427-1237A>T - intron_variant - 41/41 1
19-17005486-A-G c.5427-1336T>C - intron_variant - 41/41 1
19-17006506-C-G c.5426+481G>C - IntronicSNV - 41/41 1
19-17006697-C-A c.5426+290G>T - intron_variant - 41/41 2
19-17006697-C-T c.5426+290G>A - intron_variant - 41/41 2
19-17006700-G-A c.5426+287C>T - intron_variant - 41/41 4
19-17006700-G-T c.5426+287C>A - intron_variant - 41/41 4
19-17006716-A-G c.5426+271T>C - intron_variant - 41/41 1
19-17006736-A-G c.5426+251T>C - intron_variant - 41/41 3
19-17006714-GCA-G c.5426+271_5426+272del - IntronicDeletion - 41/41 1
19-17006738-A-G c.5426+249T>C - IntronicSNV - 41/41 4
19-17006747-T-C c.5426+240A>G - IntronicSNV - 41/41 1
19-17006787-G-A c.5426+200C>T - intron_variant - 41/41 3
19-17006873-G-A c.5426+114C>T - IntronicSNV - 41/41 2
19-17006878-G-GGCAC c.5426+248_5426+249insCGTG - IntronicInsertion - 41/41 1
19-17006878-G-GGCACAC c.5426+248_5426+249insCGTGTG - IntronicInsertion - 41/41 1
19-17006878-G-GGCACACAC c.5426+248_5426+249insCGTGTGTG - IntronicInsertion - 41/41 1
19-17006878-G-GGCACACACACACGC c.5426+248_5426+249insCGCGTGTGTGTGTG - IntronicInsertion - 41/41 1
19-17006878-G-GGCACACACACGC c.5426+248_5426+249insCGCGTGTGTGTG - IntronicInsertion - 41/41 1
19-17006878-G-GGCACACACGC c.5426+248_5426+249insCGCGTGTGTG - IntronicInsertion - 41/41 1
19-17006878-G-GGCACACGC c.5426+248_5426+249insCGCGTGTG - IntronicInsertion - 41/41 1
19-17006878-G-GGCACACGCGC c.5426+248_5426+249insCGCGCGTGTG - IntronicInsertion - 41/41 1
19-17006878-G-GGCACACGCGCGC c.5426+248_5426+249insCGCGCGCGTGTG - IntronicInsertion - 41/41 1
19-17006878-G-GGCACGC c.5426+248_5426+249insCGCGTG - IntronicInsertion - 41/41 1
19-17006878-G-GGCACGCGC c.5426+248_5426+249insCGCGCGTG - IntronicInsertion - 41/41 1
19-17006947-A-C c.5426+40T>G - intron_variant - 41/41 1
19-17006953-T-C c.5426+34A>G - IntronicSNV - 41/41 1
19-17006987-C-A c.5426G>T p.R1809M Missense 41/42 - 1
19-17007002-C-T c.5411G>A p.G1804E Missense 41/42 - 1
19-17007014-G-T c.5399C>A p.P1800H Missense 41/42 - 1
19-17007015-G-A c.5398C>T p.P1800S Missense 41/42 - 1
19-17007018-C-G c.5395G>C p.D1799H Missense 41/42 - 1
19-17007018-C-T c.5395G>A p.D1799N Missense 41/42 - 1
19-17004049-T-C c.5528A>G p.Q1843R Missense 42/42 - 24
19-17007026-T-C c.5528A>G p.Q1843R Missense 42/42 - 9
19-17007027-C-G c.5386G>C p.E1796Q Missense 41/42 - 1
19-17007038-C-T c.5375G>A p.G1792D Missense 41/42 - 2
19-17007039-C-T c.5374G>A p.G1792S Missense 41/42 - 1
19-17007040-G-A c.5373C>T p.A1791= Synonymous 41/42 - 1
19-17007040-G-C c.5373C>G p.A1791= Synonymous 41/42 - 1
19-17007040-G-T c.5373C>A p.A1791= Synonymous 41/42 - 1
19-17007058-G-A c.5355C>T p.D1785= Synonymous 41/42 - 3
19-17007059-T-A c.5354A>T p.D1785V Missense 41/42 - 1
19-17007065-T-G c.5348A>C p.Q1783P Missense 41/42 - 1
19-17007067-T-A c.5346A>T p.L1782F Missense 41/42 - 1
19-17007067-T-G c.5346A>C p.L1782F Missense 41/42 - 1
19-17007068-A-G c.5345T>C p.L1782S Missense 41/42 - 1
19-17007071-G-C c.5342C>G p.P1781R Missense 41/42 - 4
19-17007075-C-G c.5338G>C p.G1780R Missense 41/42 - 4
19-17007075-C-T c.5338G>A p.G1780R Missense 41/42 - 5
19-17007076-C-T c.5337G>A p.P1779= Synonymous 41/42 - 2
19-17007077-G-A c.5336C>T p.P1779L Missense 41/42 - 3
19-17007080-G-A c.5333C>T p.A1778V Missense 41/42 - 1
19-17007086-G-A c.5327C>T p.S1776F Missense 41/42 - 2
19-17007086-G-C c.5327C>G p.S1776C Missense 41/42 - 1
19-17007089-G-A c.5324C>T p.A1775V Missense 41/42 - 1
19-17007089-G-C c.5324C>G p.A1775G Missense 41/42 - 1
19-17007096-C-G c.5317G>C p.D1773H Missense 41/42 - 1
19-17007098-T-A c.5315A>T p.D1772V Missense 41/42 - 1
19-17007099-C-T c.5314G>A p.D1772N Missense 41/42 - 1
19-17007100-C-T c.5313G>A p.G1771= Synonymous 41/42 - 1
19-17007101-C-T c.5312G>A p.G1771E Missense 41/42 - 4
19-17007107-G-A c.5306C>T p.T1769I Missense 41/42 - 2
19-17007112-G-A c.5301C>T p.S1767= Synonymous 41/42 - 1
19-17007112-GGAC-G c.5298_5300del p.S1768del InFrameDeletion 41/42 - 1
19-17007119-G-T c.5294C>A p.S1765* Nonsense 41/42 - 2
19-17007123-C-G c.5290G>C p.A1764P Missense 41/42 - 1
19-17007126-G-GC c.5286dup p.P1763Afs*11 Frameshift 41/42 - 1
19-17007131-C-T c.5282G>A p.R1761Q Missense 41/42 - 1
19-17007132-G-A c.5281C>T p.R1761W Missense 41/42 - 1
19-17007268-G-A c.5274C>T p.L1758= Synonymous 40/42 - 1
19-17007268-G-C c.5274C>G p.L1758= Synonymous 40/42 - 1
19-17007268-G-T c.5274C>A p.L1758= Synonymous 40/42 - 1
19-17007273-C-T c.5269G>A p.A1757T Missense 40/42 - 2
19-17007293-G-C c.5249C>G p.P1750R Missense 40/42 - 1
19-17007311-T-C c.5231A>G p.Q1744R Missense 40/42 - 1
19-17007313-GCG-CAT c.5227_5229delinsATG p.R1743M Missense 40/42 - 1
19-17007314-C-T c.5228G>A p.R1743H Missense 40/42 - 1
19-17007327-C-T c.5215G>A p.E1739K Missense 40/42 - 2
19-17007334-GC-TT c.5207_5208delinsAA p.R1736Q Missense 40/42 - 1
19-17007341-G-C c.5201C>G p.A1734G Missense 40/42 - 3
19-17007363-C-T c.5179G>A p.D1727N Missense 40/42 - 3
19-17007367-G-A c.5175C>T p.G1725= Synonymous 40/42 - 2
19-17007368-C-G c.5174G>C p.G1725A Missense 40/42 - 1
19-17007378-G-T c.5164C>A p.P1722T Missense 40/42 - 5
19-17007417-G-A c.5125C>T p.R1709* Nonsense 40/42 - 1
19-17007432-C-T c.5110G>A p.G1704R Missense 40/42 - 1
19-17007441-G-C c.5101C>G p.P1701A Missense 40/42 - 1
19-17007462-C-T c.5080G>A p.E1694K Missense 40/42 - 1
19-17007473-C-A c.5069G>T p.W1690L Missense 40/42 - 1
19-17007853-G-A c.5066-377C>T - intron_variant - 39/41 2
19-17007853-G-C c.5066-377C>G - intron_variant - 39/41 2
19-17008472-GTGGGGGGCGGCAGTGGCTCCGCGCACTCACCCGGGCCCCGGGCAGGGGCGCGCTCCACT-G c.5037_5065+30del - SpliceDonorDeletion 39/42 39/41 1
19-17008510-C-T c.5057G>A p.R1686Q Missense 39/42 - 1
19-17007363-C-G c.5179G>C p.D1727H Missense 40/42 - 1
19-17008529-C-G c.5179G>C p.D1727H Missense 40/42 - 1
19-17008529-C-T c.5179G>A p.D1727N Missense 40/42 - 1
19-17008532-C-T c.5035G>A p.E1679K Missense 39/42 - 1
19-17008539-C-A c.5028G>T p.A1676= Synonymous 39/42 - 1
19-17008539-C-G c.5028G>C p.A1676= Synonymous 39/42 - 1
19-17008539-C-T c.5028G>A p.A1676= Synonymous 39/42 - 1
19-17008544-G-T c.5164C>A p.P1722T Missense 40/42 - 2
19-17008546-C-G c.5021G>C p.G1674A Missense 39/42 - 1
19-17008549-G-A c.5018C>T p.A1673V Missense 39/42 - 1
19-17008572-G-C c.4995C>G p.S1665R Missense 39/42 - 1
19-17008572-G-T c.4995C>A p.S1665R Missense 39/42 - 1
19-17008574-T-G c.4993A>C p.S1665R Missense 39/42 - 1
19-17008573-C-T c.4994G>A p.S1665N Missense 39/42 - 1
19-17008576-T-C c.4991A>G p.H1664R Missense 39/42 - 1
19-17008578-G-A c.4989C>T p.T1663= Synonymous 39/42 - 1
19-17008578-G-C c.4989C>G p.T1663= Synonymous 39/42 - 18
19-17008578-G-T c.4989C>A p.T1663= Synonymous 39/42 - 1
19-17008579-G-T c.4988C>A p.T1663N Missense 39/42 - 1
19-17008586-C-T c.4981G>A p.V1661I Missense 39/42 - 1
19-17008587-G-A c.4980C>T p.N1660= Synonymous 39/42 - 3
19-17008591-T-C c.4976A>G p.Y1659C Missense 39/42 - 1
19-17008594-A-G c.4973T>C p.F1658S Missense 39/42 - 1
19-17008596-GCG-CCA c.4969_4971delinsTGG p.R1657W Missense 39/42 - 1
19-17008600-G-A c.4967C>T p.T1656I Missense 39/42 - 1
19-17008607-C-G c.4960G>C p.E1654Q Missense 39/42 - 4
19-17008607-C-T c.4960G>A p.E1654K Missense 39/42 - 1
19-17008632-G-C c.4955-20C>G - intron_variant - 38/41 1
19-17008632-G-T c.4955-20C>A - intron_variant - 38/41 1
19-17008669-C-T c.4954+31G>A - IntronicSNV - 38/41 1
19-17008688-G-A c.4954+12C>T - intron_variant - 38/41 1
19-17008688-G-T c.4954+12C>A - intron_variant - 38/41 1
19-17008707-G-A c.4947C>T p.Y1649= Synonymous 38/42 - 1
19-17008713-G-C c.4941C>G p.D1647E Missense 38/42 - 1
19-17008713-G-T c.4941C>A p.D1647E Missense 38/42 - 1
19-17008717-T-C c.4937A>G p.Y1646C Missense 38/42 - 1
19-17008719-C-T c.4935G>A p.V1645= Synonymous 38/42 - 1
19-17008721-C-G c.4933G>C p.V1645L Missense 38/42 - 1
19-17008728-T-A c.4926A>T p.P1642= Synonymous 38/42 - 1
19-17008728-T-C c.4926A>G p.P1642= Synonymous 38/42 - 1
19-17008728-T-G c.4926A>C p.P1642= Synonymous 38/42 - 1
19-17008729-G-C c.4925C>G p.P1642R Missense 38/42 - 1
19-17008734-C-A c.4920G>T p.A1640= Synonymous 38/42 - 1
19-17008734-C-G c.4920G>C p.A1640= Synonymous 38/42 - 1
19-17008734-C-T c.4920G>A p.A1640= Synonymous 38/42 - 3
19-17008738-G-A c.4916C>T p.S1639L Missense 38/42 - 4
19-17008739-A-G c.4915T>C p.S1639P Missense 38/42 - 1
19-17008742-T-C c.4912A>G p.T1638A Missense 38/42 - 1
19-17008746-GCC-TCA c.4906_4908delinsTGA p.G1636* Nonsense 38/42 - 1
19-17008753-A-G c.4901T>C p.V1634A Missense 38/42 - 1
19-17008754-C-T c.4900G>A p.V1634M Missense 38/42 - 1
19-17008755-G-A c.4899C>T p.C1633= Synonymous 38/42 - 1
19-17008757-A-G c.4897T>C p.C1633R Missense 38/42 - 1
19-17008758-C-A c.4896G>T p.E1632D Missense 38/42 - 1
19-17008758-C-T c.4896G>A p.E1632= Synonymous 38/42 - 1
19-17008759-T-G c.4895A>C p.E1632A Missense 38/42 - 1
19-17008760-C-T c.4894G>A p.E1632K Missense 38/42 - 1
19-17008761-C-A c.4893G>T p.R1631= Synonymous 38/42 - 1
19-17008766-G-A c.4888C>T p.L1630F Missense 38/42 - 1
19-17008771-C-T c.4883G>A p.R1628H Missense 38/42 - 1
19-17008772-G-T c.4882C>A p.R1628S Missense 38/42 - 2
19-17008773-G-A c.4881C>T p.F1627= Synonymous 38/42 - 1
19-17008778-G-A c.4876C>T p.R1626W Missense 38/42 - 1
19-17008781-C-T c.4873G>A p.V1625M Missense 38/42 - 1
19-17008782-G-A c.4872C>T p.C1624= Synonymous 38/42 - 1
19-17008783-C-T c.4871G>A p.C1624Y Missense 38/42 - 1
19-17008792-C-A c.4862G>T p.C1621F Missense 38/42 - 1
19-17008792-CA-GT c.4861_4862delinsAC p.C1621T Missense 38/42 - 1
19-17008795-C-T c.4859G>A p.R1620Q Missense 38/42 - 1
19-17008796-G-C c.4858C>G p.R1620G Missense 38/42 - 4
19-17008803-G-A c.4851C>T p.I1617= Synonymous 38/42 - 2
19-17010283-T-C c.4848+3A>G - IntronicSNV - 37/41 1
19-17010285-C-T c.4848+1G>A - IntronicSNV - 37/41 1
19-17010288-C-T c.4846G>A p.E1616K Missense 37/42 - 1
19-17010303-G-A c.4831C>T p.L1611F Missense 37/42 - 1
19-17010304-C-A c.4830G>T p.V1610= Synonymous 37/42 - 1
19-17010306-C-T c.4828G>A p.V1610M Missense 37/42 - 1
19-17010309-G-A c.4825C>T p.R1609* Nonsense 37/42 - 3
19-17010311-C-T c.4823G>A p.R1608H Missense 37/42 - 1
19-17010318-C-T c.4816G>A p.A1606T Missense 37/42 - 1
19-17010338-C-T c.4796G>A p.G1599E Missense 37/42 - 1
19-17010341-A-G c.4793T>C p.M1598T Missense 37/42 - 1
19-17010350-T-G c.4784A>C p.D1595A Missense 37/42 - 3
19-17010355-G-A c.4779C>T p.L1593= Synonymous 37/42 - 1
19-17010358-C-A c.4776G>T p.L1592= Synonymous 37/42 - 1
19-17011485-T-C c.4773+535A>G - intron_variant - 36/41 1
19-17011860-G-A c.4773+160C>T - intron_variant - 36/41 2
19-17011860-G-T c.4773+160C>A - intron_variant - 36/41 2
19-17011879-A-G c.4773+141T>C - intron_variant - 36/41 2
19-17011950-17011951---C c.4773+69dup - intron_variant - 36/41 2
19-17011950-17011951---CC c.4773+68_4773+69dup - intron_variant - 36/41 2
19-17011950-A-AC c.4773+69dup - IntronicInsertion - 36/41 1
19-17012020-C-A c.4773G>T p.Q1591H Missense 36/42 - 1
19-17012022-G-A c.4771C>T p.Q1591* Nonsense 36/42 - 1
19-17012040-C-G c.4753G>C p.D1585H Missense 36/42 - 3
19-17012046-G-C c.4747C>G p.R1583G Missense 36/42 - 1
19-17012051-C-T c.4742G>A p.G1581D Missense 36/42 - 1
19-17012052-C-G c.4741G>C p.G1581R Missense 36/42 - 1
19-17012057-A-G c.4736T>C p.L1579P Missense 36/42 - 1
19-17012064-G-T c.4729C>A p.P1577T Missense 36/42 - 1
19-17012067-C-A c.4726G>T p.V1576L Missense 36/42 - 2
19-17012067-C-G c.4726G>C p.V1576L Missense 36/42 - 1
19-17012070-C-G c.4723G>C p.E1575Q Missense 36/42 - 3
19-17012085-T-C c.4708A>G p.N1570D Missense 36/42 - 1
19-17012086-G-A c.4707C>T p.S1569= Synonymous 36/42 - 2
19-17012086-G-C c.4707C>G p.S1569= Synonymous 36/42 - 1
19-17012086-G-T c.4707C>A p.S1569= Synonymous 36/42 - 1
19-17012091-A-G c.4702T>C p.S1568P Missense 36/42 - 1
19-17012092-C-T c.4701G>A p.G1567= Synonymous 36/42 - 3
19-17012096-G-A c.4697C>T p.A1566V Missense 36/42 - 1
19-17012096-G-C c.4697C>G p.A1566G Missense 36/42 - 2
19-17012096-G-T c.4697C>A p.A1566E Missense 36/42 - 1
19-17013281-C-A c.4685+178G>T - intron_variant - 35/41 1
19-17013281-C-G c.4685+178G>C - intron_variant - 35/41 1
19-17013281-C-T c.4685+178G>A - intron_variant - 35/41 1
19-17013464-G-A c.4680C>T p.C1560= Synonymous 35/42 - 1
19-17013471-T-C c.4673A>G p.E1558G Missense 35/42 - 1
19-17013476-C-A c.4668G>T p.M1556I Missense 35/42 - 1
19-17013476-C-G c.4668G>C p.M1556I Missense 35/42 - 1
19-17013476-C-T c.4668G>A p.M1556I Missense 35/42 - 1
19-17013484-T-C c.4660A>G p.K1554E Missense 35/42 - 2
19-17013490-C-T c.4654G>A p.E1552K Missense 35/42 - 6
19-17013493-G-A c.4651C>T p.Q1551* Nonsense 35/42 - 1
19-17013494-G-C c.4650C>G p.H1550Q Missense 35/42 - 1
19-17013499-G-A c.4645C>T p.H1549Y Missense 35/42 - 2
19-17013504-T-C c.4640A>G p.D1547G Missense 35/42 - 1
19-17013505-C-T c.4639G>A p.D1547N Missense 35/42 - 5
19-17013507-G-A c.4637C>T p.A1546V Missense 35/42 - 6
19-17013509-C-A c.4635G>T p.A1545= Synonymous 35/42 - 1
19-17013509-C-T c.4635G>A p.A1545= Synonymous 35/42 - 1
19-17013510-G-A c.4634C>T p.A1545V Missense 35/42 - 2
19-17013520-C-T c.4624G>A p.D1542N Missense 35/42 - 1
19-17013523-C-T c.4621G>A p.D1541N Missense 35/42 - 3
19-17013524-G-A c.4620C>T p.D1540= Synonymous 35/42 - 4
19-17013532-G-A c.4612C>T p.P1538S Missense 35/42 - 1
19-17013536-C-A c.4608G>T p.W1536C Missense 35/42 - 2
19-17013536-C-G c.4608G>C p.W1536C Missense 35/42 - 1
19-17013536-C-T c.4608G>A p.W1536* Nonsense 35/42 - 1
19-17013537-C-T c.4607G>A p.W1536* Nonsense 35/42 - 1
19-17013543-C-T c.4601G>A p.G1534E Missense 35/42 - 3
19-17013546-C-T c.4598G>A p.R1533Q Missense 35/42 - 7
19-17013545-T-A c.4599A>T p.R1533= Synonymous 35/42 - 1
19-17013545-T-C c.4599A>G p.R1533= Synonymous 35/42 - 1
19-17013545-T-G c.4599A>C p.R1533= Synonymous 35/42 - 1
19-17013547-G-C c.4597C>G p.R1533G Missense 35/42 - 1
19-17013547-G-T c.4597C>A p.R1533= Synonymous 35/42 - 4
19-17013548-G-A c.4596C>T p.S1532= Synonymous 35/42 - 1
19-17013548-G-C c.4596C>G p.S1532= Synonymous 35/42 - 1
19-17013548-G-T c.4596C>A p.S1532= Synonymous 35/42 - 1
19-17013549-G-A c.4595C>T p.S1532F Missense 35/42 - 2
19-17013559-C-T c.4585G>A p.A1529T Missense 35/42 - 1
19-17013562-C-T c.4582G>A p.A1528T Missense 35/42 - 1
19-17013563-G-A c.4581C>T p.S1527= Synonymous 35/42 - 4
19-17013563-G-C c.4581C>G p.S1527= Synonymous 35/42 - 2
19-17013563-G-T c.4581C>A p.S1527= Synonymous 35/42 - 3
19-17013570-G-A c.4574C>T p.P1525L Missense 35/42 - 1
19-17013571-G-A c.4573C>T p.P1525S Missense 35/42 - 1
19-17013575-G-A c.4569C>T p.P1523= Synonymous 35/42 - 2
19-17013577-G-C c.4567C>G p.P1523A Missense 35/42 - 1
19-17013574-TG-T c.4569del p.M1524Cfs*32 Frameshift 35/42 - 1
19-17013580-G-A c.4564C>T p.P1522S Missense 35/42 - 1
19-17013581-C-A c.4563G>T p.P1521= Synonymous 35/42 - 2
19-17013581-C-G c.4563G>C p.P1521= Synonymous 35/42 - 2
19-17013581-C-T c.4563G>A p.P1521= Synonymous 35/42 - 4
19-17013582-G-A c.4562C>T p.P1521L Missense 35/42 - 5
19-17013585-C-T c.4559G>A p.R1520H Missense 35/42 - 2
19-17013586-G-A c.4558C>T p.R1520C Missense 35/42 - 2
19-17013589-C-T c.4555G>A p.G1519R Missense 35/42 - 3
19-17013590-C-A c.4554G>T p.Q1518H Missense 35/42 - 1
19-17013590-C-G c.4554G>C p.Q1518H Missense 35/42 - 1
19-17013590-C-T c.4554G>A p.Q1518= Synonymous 35/42 - 1
19-17013592-G-T c.4552C>A p.Q1518K Missense 35/42 - 1
19-17013598-C-A c.4546G>T p.E1516* Nonsense 35/42 - 1
19-17013605-C-T c.4539G>A p.Q1513= Synonymous 35/42 - 3
19-17013616-C-G c.4528G>C p.V1510L Missense 35/42 - 1
19-17013617-G-C c.4527C>G p.L1509= Synonymous 35/42 - 1
19-17013624-T-C c.4520A>G p.Q1507R Missense 35/42 - 1
19-17013625-G-A c.4519C>T p.Q1507* Nonsense 35/42 - 2
19-17013630-G-A c.4514C>T p.A1505V Missense 35/42 - 1
19-17013631-C-CT c.4512dup p.A1505Sfs*12 Frameshift 35/42 - 1
19-17013633-G-A c.4511C>T p.P1504L Missense 35/42 - 2
19-17013643-C-T c.4501G>A p.V1501M Missense 35/42 - 2
19-17013645-G-A c.4499C>T p.P1500L Missense 35/42 - 3
19-17013649-C-A c.4495G>T p.D1499Y Missense 35/42 - 1
19-17013649-C-T c.4495G>A p.D1499N Missense 35/42 - 1
19-17013657-T-C c.4487A>G p.N1496S Missense 35/42 - 1
19-17013919-C-T c.4471-246G>A - intron_variant - 34/41 1
19-17014365-C-A c.4470+6G>T - IntronicSNV - 34/41 1
19-17014374-C-A c.4467G>T p.M1489I Missense 34/42 - 1
19-17014374-C-G c.4467G>C p.M1489I Missense 34/42 - 1
19-17014374-C-T c.4467G>A p.M1489I Missense 34/42 - 1
19-17014374-GCATCAGGCAGCAGCCGTCCCCCTTGGCACTCACAAACAGCCCCGTGGGGAGGCTGGGGA-G c.4409_4467del p.I1470Tfs*3 InFrameDeletion 34/42 - 1
19-17014375-A-C c.4466T>G p.M1489R Missense 34/42 - 1
19-17014377-C-A c.4464G>T p.L1488= Synonymous 34/42 - 1
19-17014377-C-G c.4464G>C p.L1488= Synonymous 34/42 - 1
19-17014377-C-T c.4464G>A p.L1488= Synonymous 34/42 - 1
19-17014379-G-A c.4462C>T p.L1488= Synonymous 34/42 - 1
19-17014386-G-A c.4455C>T p.G1485= Synonymous 34/42 - 1
19-17014386-G-C c.4455C>G p.G1485= Synonymous 34/42 - 1
19-17014386-G-T c.4455C>A p.G1485= Synonymous 34/42 - 1
19-17014387-C-G c.4454G>C p.G1485A Missense 34/42 - 1
19-17014388-C-T c.4453G>A p.G1485S Missense 34/42 - 1
19-17014389-G-A c.4452C>T p.D1484= Synonymous 34/42 - 3
19-17014391-C-T c.4450G>A p.D1484N Missense 34/42 - 5
19-17014395-C-T c.4446G>A p.K1482= Synonymous 34/42 - 2
19-17014404-C-A c.4437G>T p.V1479= Synonymous 34/42 - 2
19-17014404-C-G c.4437G>C p.V1479= Synonymous 34/42 - 3
19-17014404-C-T c.4437G>A p.V1479= Synonymous 34/42 - 3
19-17014408-A-G c.4433T>C p.F1478S Missense 34/42 - 1
19-17014415-C-T c.4426G>A p.G1476R Missense 34/42 - 5
19-17014416-C-T c.4425G>A p.T1475= Synonymous 34/42 - 1
19-17014417-G-A c.4424C>T p.T1475M Missense 34/42 - 2
19-17014421-G-A c.4420C>T p.P1474S Missense 34/42 - 1
19-17014426-C-A c.4415G>T p.S1472I Missense 34/42 - 1
19-17014430-G-A c.4411C>T p.P1471S Missense 34/42 - 2
19-17014505-C-T c.4407+7G>A - IntronicSNV - 33/41 1
19-17014507-C-T c.4407+5G>A - IntronicSNV - 33/41 1
19-17014512-C-A c.4407G>T p.A1469= Synonymous 33/42 - 1
19-17014512-C-G c.4407G>C p.A1469= Synonymous 33/42 - 1
19-17014512-C-T c.4407G>A p.A1469= Synonymous 33/42 - 2
19-17014513-G-A c.4406C>T p.A1469V Missense 33/42 - 1
19-17014516-G-T c.4403C>A p.A1468E Missense 33/42 - 1
19-17014520-T-C c.4399A>G p.T1467A Missense 33/42 - 4
19-17014528-A-G c.4391T>C p.V1464A Missense 33/42 - 1
19-17014529-C-A c.4390G>T p.V1464F Missense 33/42 - 1
19-17014529-C-T c.4390G>A p.V1464I Missense 33/42 - 2
19-17014532-T-C c.4387A>G p.K1463E Missense 33/42 - 1
19-17014536-G-A c.4383C>T p.N1461= Synonymous 33/42 - 1
19-17014543-C-A c.4376G>T p.R1459M Missense 33/42 - 1
19-17014543-C-T c.4376G>A p.R1459K Missense 33/42 - 1
19-17014546-T-G c.4373A>C p.H1458P Missense 33/42 - 1
19-17014549-A-G c.4370T>C p.L1457P Missense 33/42 - 1
19-17014553-C-T c.4366G>A p.E1456K Missense 33/42 - 2
19-17014557-G-T c.4362C>A p.T1454= Synonymous 33/42 - 1
19-17014558-G-T c.4361C>A p.T1454N Missense 33/42 - 1
19-17014559-T-C c.4360A>G p.T1454A Missense 33/42 - 1
19-17014563-C-T c.4356G>A p.Q1452= Synonymous 33/42 - 1
19-17014572-C-T c.4347G>A p.L1449= Synonymous 33/42 - 1
19-17014574-G-A c.4345C>T p.L1449= Synonymous 33/42 - 1
19-17014574-G-C c.4345C>G p.L1449V Missense 33/42 - 1
19-17014586-C-G c.4333G>C p.A1445P Missense 33/42 - 1
19-17014589-G-T c.4330C>A p.L1444M Missense 33/42 - 1
19-17014590-G-A c.4329C>T p.S1443= Synonymous 33/42 - 2
19-17014590-G-C c.4329C>G p.S1443= Synonymous 33/42 - 1
19-17014590-G-T c.4329C>A p.S1443= Synonymous 33/42 - 2
19-17014593-G-A c.4326C>T p.V1442= Synonymous 33/42 - 1
19-17014593-G-C c.4326C>G p.V1442= Synonymous 33/42 - 1
19-17014593-G-T c.4326C>A p.V1442= Synonymous 33/42 - 1
19-17014595-C-G c.4324G>C p.V1442L Missense 33/42 - 1
19-17014598-T-A c.4321A>T p.T1441S Missense 33/42 - 1
19-17014601-G-T c.4318C>A p.L1440I Missense 33/42 - 1
19-17014607-T-C c.4312A>G p.I1438V Missense 33/42 - 1
19-17014616-C-A c.4303G>T p.A1435S Missense 33/42 - 1
19-17014618-T-C c.4301A>G p.Y1434C Missense 33/42 - 1
19-17014620-G-A c.4299C>T p.S1433= Synonymous 33/42 - 1
19-17014620-G-C c.4299C>G p.S1433= Synonymous 33/42 - 1
19-17014620-G-T c.4299C>A p.S1433= Synonymous 33/42 - 1
19-17014626-G-A c.4293C>T p.I1431= Synonymous 33/42 - 2
19-17014626-G-T c.4293C>A p.I1431= Synonymous 33/42 - 3
19-17014630-G-T c.4289C>A p.A1430D Missense 33/42 - 1
19-17014632-A-G c.4287T>C p.Y1429= Synonymous 33/42 - 1
19-17014633-T-C c.4286A>G p.Y1429C Missense 33/42 - 1
19-17014640-C-G c.4279G>C p.A1427P Missense 33/42 - 2
19-17014640-C-T c.4279G>A p.A1427T Missense 33/42 - 3
19-17014647-C-T c.4272G>A p.Q1424= Synonymous 33/42 - 1
19-17014654-G-T c.4265C>A p.A1422D Missense 33/42 - 1
19-17014655-C-T c.4264G>A p.A1422T Missense 33/42 - 1
19-17014656-CAC-GAT c.4261_4263delinsATC p.V1421I Missense 33/42 - 1
19-17014658-C-T c.4261G>A p.V1421M Missense 33/42 - 3
19-17014659-G-A c.4260C>T p.C1420= Synonymous 33/42 - 1
19-17014664-T-C c.4255A>G p.T1419A Missense 33/42 - 1
19-17014718-T-C c.4252-51A>G - intron_variant - 32/41 1
19-17014871-G-A c.4251+165C>T - IntronicSNV - 32/41 3
19-17014991-A-C c.4251+45T>G - IntronicSNV - 32/41 1
19-17014995-A-C c.4251+41T>G - IntronicSNV - 32/41 1
19-17015042-G-A c.4245C>T p.S1415= Synonymous 32/42 - 1
19-17015047-A-G c.4240T>C p.S1414P Missense 32/42 - 1
19-17015051-G-A c.4236C>T p.G1412= Synonymous 32/42 - 2
19-17015051-G-C c.4236C>G p.G1412= Synonymous 32/42 - 1
19-17015051-G-T c.4236C>A p.G1412= Synonymous 32/42 - 1
19-17015063-A-C c.4224T>G p.N1408K Missense 32/42 - 1
19-17015067-CG-GT c.4219_4220delinsAC p.R1407T Missense 32/42 - 1
19-17015067-C-T c.4220G>A p.R1407Q Missense 32/42 - 2
19-17015077-A-G c.4210T>C p.S1404P Missense 32/42 - 5
19-17015092-C-A c.4195G>T p.V1399L Missense 32/42 - 4
19-17015092-C-G c.4195G>C p.V1399L Missense 32/42 - 4
19-17015095-G-C c.4192C>G p.P1398A Missense 32/42 - 1
19-17015099-G-A c.4188C>T p.A1396= Synonymous 32/42 - 1
19-17015101-C-T c.4186G>A p.A1396T Missense 32/42 - 6
19-17015103-G-T c.4184C>A p.A1395D Missense 32/42 - 3
19-17015107-C-A c.4180G>T p.A1394S Missense 32/42 - 1
19-17015110-C-T c.4177G>A p.V1393M Missense 32/42 - 2
19-17015111-G-A c.4176C>T p.D1392= Synonymous 32/42 - 1
19-17015112-T-A c.4175A>T p.D1392V Missense 32/42 - 1
19-17015112-T-C c.4175A>G p.D1392G Missense 32/42 - 1
19-17015115-C-A c.4172G>T p.G1391V Missense 32/42 - 1
19-17015119-G-T c.4168C>A p.L1390M Missense 32/42 - 1
19-17015120-C-A c.4167G>T p.L1389= Synonymous 32/42 - 1
19-17015120-C-G c.4167G>C p.L1389= Synonymous 32/42 - 1
19-17015120-C-T c.4167G>A p.L1389= Synonymous 32/42 - 1
19-17015122-G-A c.4165C>T p.L1389= Synonymous 32/42 - 1
19-17015121-A-C c.4166T>G p.L1389R Missense 32/42 - 2
19-17015124-G-T c.4163C>A p.T1388N Missense 32/42 - 3
19-17015125-T-G c.4162A>C p.T1388P Missense 32/42 - 2
19-17015126-G-T c.4161C>A p.Y1387* Nonsense 32/42 - 1
19-17015127-T-G c.4160A>C p.Y1387S Missense 32/42 - 2
19-17015129-G-A c.4158C>T p.T1386= Synonymous 32/42 - 1
19-17015129-G-C c.4158C>G p.T1386= Synonymous 32/42 - 1
19-17015129-GG-CT c.4157_4158delinsAG p.T1386K Missense 32/42 - 1
19-17015129-G-T c.4158C>A p.T1386= Synonymous 32/42 - 2
19-17015130-G-T c.4157C>A p.T1386N Missense 32/42 - 1
19-17015131-T-A c.4156A>T p.T1386S Missense 32/42 - 1
19-17015133-A-G c.4154T>C p.L1385P Missense 32/42 - 8
19-17015139-G-A c.4148C>T p.A1383V Missense 32/42 - 3
19-17015140-C-T c.4147G>A p.A1383T Missense 32/42 - 3
19-17015142-T-C c.4145A>G p.Y1382C Missense 32/42 - 1
19-17015149-T-C c.4138A>G p.T1380A Missense 32/42 - 1
19-17015150-C-T c.4137G>A p.M1379I Missense 32/42 - 2
19-17015155-C-T c.4132G>A p.E1378K Missense 32/42 - 6
19-17015156-C-T c.4131G>A p.V1377= Synonymous 32/42 - 1
19-17015161-C-T c.4126G>A p.E1376K Missense 32/42 - 1
19-17015165-C-T c.4122G>A p.S1374= Synonymous 32/42 - 1
19-17015166-G-A c.4121C>T p.S1374L Missense 32/42 - 1
19-17015168-GAC-CAT c.4117_4119delinsATG p.V1373M Missense 32/42 - 1
19-17015276-C-T c.4114G>A p.V1372M Missense 31/42 - 1
19-17015282-G-A c.4108C>T p.Q1370* Nonsense 31/42 - 1
19-17015287-A-G c.4103T>C p.V1368A Missense 31/42 - 1
19-17015288-C-A c.4102G>T p.V1368F Missense 31/42 - 1
19-17015299-A-G c.4091T>C p.F1364S Missense 31/42 - 1
19-17015302-C-T c.4088G>A p.S1363N Missense 31/42 - 1
19-17015305-A-C c.4085T>G p.L1362W Missense 31/42 - 1
19-17015307-G-A c.4083C>T p.F1361= Synonymous 31/42 - 3
19-17015307-G-C c.4083C>G p.F1361L Missense 31/42 - 1
19-17015307-G-T c.4083C>A p.F1361L Missense 31/42 - 1
19-17015309-A-G c.4081T>C p.F1361L Missense 31/42 - 1
19-17015310-T-A c.4080A>T p.T1360= Synonymous 31/42 - 1
19-17015310-T-C c.4080A>G p.T1360= Synonymous 31/42 - 1
19-17015310-T-G c.4080A>C p.T1360= Synonymous 31/42 - 1
19-17015311-G-A c.4079C>T p.T1360I Missense 31/42 - 2
19-17015315-C-T c.4075G>A p.G1359S Missense 31/42 - 1
19-17015324-C-T c.4066G>A p.V1356M Missense 31/42 - 1
19-17015325-G-A c.4065C>T p.D1355= Synonymous 31/42 - 1
19-17015327-C-G c.4063G>C p.D1355H Missense 31/42 - 1
19-17015328-C-T c.4062G>A p.W1354* Nonsense 31/42 - 1
19-17015329-C-T c.4061G>A p.W1354* Nonsense 31/42 - 1
19-17015332-G-A c.4058C>T p.S1353F Missense 31/42 - 1
19-17015340-C-A c.4050G>T p.L1350= Synonymous 31/42 - 1
19-17015340-C-G c.4050G>C p.L1350= Synonymous 31/42 - 1
19-17015340-C-T c.4050G>A p.L1350= Synonymous 31/42 - 1
19-17015341-A-G c.4049T>C p.L1350P Missense 31/42 - 1
19-17015342-G-A c.4048C>T p.L1350= Synonymous 31/42 - 2
19-17015344-C-A c.4046G>T p.S1349I Missense 31/42 - 2
19-17015345-T-A c.4045A>T p.S1349C Missense 31/42 - 1
19-17015351-G-A c.4039C>T p.H1347Y Missense 31/42 - 1
19-17015353-G-A c.4037C>T p.T1346I Missense 31/42 - 1
19-17015357-C-T c.4033G>A p.V1345I Missense 31/42 - 1
19-17015360-C-T c.4030G>A p.G1344R Missense 31/42 - 4
19-17015361-A-C c.4029T>G p.D1343E Missense 31/42 - 1
19-17015361-A-T c.4029T>A p.D1343E Missense 31/42 - 1
19-17015428-G-A c.4028-66C>T - intron_variant - 30/41 5
19-17017213-TTTCTTTCC-T c.4027+541_4027+548del - IntronicDeletion - 30/41 1
19-17017416-A-G c.4027+346T>C - IntronicSNV - 30/41 1
19-17017692-G-C c.4027+70C>G - IntronicSNV - 30/41 1
19-17017762-C-T c.4027G>A p.D1343N Missense 30/42 - 4
19-17017764-C-T c.4025G>A p.R1342Q Missense 30/42 - 4
19-17017765-G-A c.4024C>T p.R1342* Nonsense 30/42 - 1
19-17017774-C-T c.4015G>A p.A1339T Missense 30/42 - 1
19-17017782-C-T c.4007G>A p.R1336H Missense 30/42 - 1
19-17017783-G-A c.4006C>T p.R1336C Missense 30/42 - 1
19-17017783-G-C c.4006C>G p.R1336G Missense 30/42 - 1
19-17017784-G-A c.4005C>T p.L1335= Synonymous 30/42 - 3
19-17017791-C-T c.3998G>A p.R1333H Missense 30/42 - 2
19-17017792-G-A c.3997C>T p.R1333C Missense 30/42 - 1
19-17017798-C-A c.3991G>T p.A1331S Missense 30/42 - 1
19-17017800-T-A c.3989A>T p.E1330V Missense 30/42 - 1
19-17017807-C-A c.3982G>T p.A1328S Missense 30/42 - 1
19-17017811-C-A c.3978G>T p.P1326= Synonymous 30/42 - 1
19-17017811-C-G c.3978G>C p.P1326= Synonymous 30/42 - 1
19-17017811-C-T c.3978G>A p.P1326= Synonymous 30/42 - 1
19-17017812-G-T c.3977C>A p.P1326Q Missense 30/42 - 2
19-17017818-C-T c.3971G>A p.R1324H Missense 30/42 - 9
19-17017819-G-A c.3970C>T p.R1324C Missense 30/42 - 2
19-17017819-G-C c.3970C>G p.R1324G Missense 30/42 - 1
19-17017832-C-T c.3957G>A p.A1319= Synonymous 30/42 - 1
19-17017833-G-A c.3956C>T p.A1319V Missense 30/42 - 2
19-17017834-C-G c.3955G>C p.A1319P Missense 30/42 - 1
19-17017834-C-T c.3955G>A p.A1319T Missense 30/42 - 2
19-17017835-G-A c.3954C>T p.Y1318= Synonymous 30/42 - 4
19-17017837-A-G c.3952T>C p.Y1318H Missense 30/42 - 1
19-17017845-AG-CA c.3943_3944delinsTG p.L1315W Missense 30/42 - 1
19-17017847-G-A c.3942C>T p.A1314= Synonymous 30/42 - 3
19-17017851-C-A c.3938G>T p.C1313F Missense 30/42 - 4
19-17017854-C-T c.3935G>A p.S1312N Missense 30/42 - 1
19-17017856-A-C c.3933T>G p.Y1311* Nonsense 30/42 - 1
19-17017860-G-A c.3929C>T p.P1310L Missense 30/42 - 1
19-17017874-G-A c.3915C>T p.P1305= Synonymous 30/42 - 1
19-17017877-C-A c.3912G>T p.A1304= Synonymous 30/42 - 3
19-17017877-C-G c.3912G>C p.A1304= Synonymous 30/42 - 3
19-17017877-C-T c.3912G>A p.A1304= Synonymous 30/42 - 5
19-17017878-G-A c.3911C>T p.A1304V Missense 30/42 - 23
19-17017884-G-C c.3905C>G p.S1302C Missense 30/42 - 1
19-17017889-C-A c.3900G>T p.L1300= Synonymous 30/42 - 1
19-17017889-C-G c.3900G>C p.L1300= Synonymous 30/42 - 1
19-17017889-C-T c.3900G>A p.L1300= Synonymous 30/42 - 1
19-17017891-G-A c.3898C>T p.L1300= Synonymous 30/42 - 1
19-17017892-G-A c.3897C>T p.F1299= Synonymous 30/42 - 3
19-17017898-C-T c.3891G>A p.R1297= Synonymous 30/42 - 1
19-17017900-T-G c.3889A>C p.R1297= Synonymous 30/42 - 1
19-17017901-C-A c.3888G>T p.A1296= Synonymous 30/42 - 3
19-17017901-C-G c.3888G>C p.A1296= Synonymous 30/42 - 3
19-17017901-C-T c.3888G>A p.A1296= Synonymous 30/42 - 4
19-17017902-G-A c.3887C>T p.A1296V Missense 30/42 - 2
19-17017916-G-A c.3873C>T p.G1291= Synonymous 30/42 - 1
19-17017916-G-C c.3873C>G p.G1291= Synonymous 30/42 - 1
19-17017916-G-T c.3873C>A p.G1291= Synonymous 30/42 - 1
19-17017918-C-A c.3871G>T p.G1291C Missense 30/42 - 1
19-17017919-T-C c.3870A>G p.R1290= Synonymous 30/42 - 2
19-17017920-C-G c.3869G>C p.R1290T Missense 30/42 - 2
19-17017924-C-T c.3865G>A p.E1289K Missense 30/42 - 1
19-17017927-C-T c.3862G>A p.E1288K Missense 30/42 - 1
19-17018852-C-T c.3862-925G>A - intron_variant - 29/41 2
19-17019173-A-T c.3862-1246T>A - intron_variant - 29/41 1
19-17020662-G-A c.3862-2735C>T - intron_variant - 29/41 1
19-17020688-A-G c.3862-2761T>C - intron_variant - 29/41 1
19-17021066-G-A c.3862-3139C>T - intron_variant - 29/41 1
19-17021066-G-C c.3862-3139C>G - intron_variant - 29/41 1
19-17021066-G-T c.3862-3139C>A - intron_variant - 29/41 1
19-17025233-C-T c.3861+1G>A - IntronicSNV - 29/41 2
19-17025236-TCTGAGGCTGTGCCTGTTTCCAGGAGAGCAACCACCACGTAGGCTGTCAGCGGGACAGTG-T c.3801_3859del p.T1268Gfs*7 InFrameDeletion 29/42 - 1
19-17025238-G-A c.3857C>T p.S1286L Missense 29/42 - 1
19-17025238-G-C c.3857C>G p.S1286* Nonsense 29/42 - 1
19-17025241-G-T c.3854C>A p.A1285D Missense 29/42 - 1
19-17025242-C-T c.3853G>A p.A1285T Missense 29/42 - 1
19-17025247-C-G c.3848G>C p.G1283A Missense 29/42 - 1
19-17025250-G-A c.3845C>T p.T1282I Missense 29/42 - 1
19-17025251-T-C c.3844A>G p.T1282A Missense 29/42 - 1
19-17025254-C-T c.3841G>A p.E1281K Missense 29/42 - 1
19-17025258-G-A c.3837C>T p.L1279= Synonymous 29/42 - 1
19-17025258-G-C c.3837C>G p.L1279= Synonymous 29/42 - 1
19-17025258-G-T c.3837C>A p.L1279= Synonymous 29/42 - 1
19-17025260-G-A c.3835C>T p.L1279F Missense 29/42 - 1
19-17025262-G-T c.3833C>A p.A1278D Missense 29/42 - 1
19-17025266-C-A c.3829G>T p.V1277F Missense 29/42 - 1
19-17025269-C-T c.3826G>A p.V1276M Missense 29/42 - 2
19-17025270-CAC-GAT c.3823_3825delinsATC p.V1275I Missense 29/42 - 1
19-17025272-C-T c.3823G>A p.V1275M Missense 29/42 - 1
19-17025276-G-C c.3819C>G p.A1273= Synonymous 29/42 - 1
19-17025286-G-A c.3809C>T p.P1270L Missense 29/42 - 1
19-17025286-G-T c.3809C>A p.P1270Q Missense 29/42 - 1
19-17025287-G-A c.3808C>T p.P1270S Missense 29/42 - 3
19-17025291-A-C c.3804T>G p.T1268= Synonymous 29/42 - 1
19-17025291-A-G c.3804T>C p.T1268= Synonymous 29/42 - 1
19-17025291-A-T c.3804T>A p.T1268= Synonymous 29/42 - 1
19-17025292-G-A c.3803C>T p.T1268I Missense 29/42 - 36
19-17025295-C-A c.3800G>T p.G1267V Missense 29/42 - 1
19-17025296-C-A c.3799G>T p.G1267C Missense 29/42 - 1
19-17025297-G-A c.3798C>T p.H1266= Synonymous 29/42 - 2
19-17025299-G-T c.3796C>A p.H1266N Missense 29/42 - 1
19-17025301-A-G c.3794T>C p.I1265T Missense 29/42 - 1
19-17025308-C-T c.3787G>A p.G1263S Missense 29/42 - 6
19-17025311-G-A c.3787-3C>T - splice_polypyrimidine_tract_variant,splice_region_variant,intron_variant - 28/41 3
19-17025475-C-T c.3778G>A p.D1260N Missense 28/42 - 3
19-17025482-C-T c.3771G>A p.L1257= Synonymous 28/42 - 3
19-17025487-C-T c.3766G>A p.V1256I Missense 28/42 - 2
19-17025488-C-T c.3765G>A p.R1255= Synonymous 28/42 - 1
19-17025489-C-T c.3764G>A p.R1255K Missense 28/42 - 4
19-17025491-G-A c.3762C>T p.G1254= Synonymous 28/42 - 1
19-17025493-C-T c.3760G>A p.G1254S Missense 28/42 - 1
19-17025494-C-A c.3759G>T p.V1253= Synonymous 28/42 - 4
19-17025494-C-G c.3759G>C p.V1253= Synonymous 28/42 - 3
19-17025494-C-T c.3759G>A p.V1253= Synonymous 28/42 - 3
19-17025496-C-A c.3757G>T p.V1253L Missense 28/42 - 1
19-17025496-C-T c.3757G>A p.V1253M Missense 28/42 - 2
19-17025500-CAG-AAA c.3751_3753delinsTTT p.L1251F Missense 28/42 - 1
19-17025507-G-A c.3746C>T p.S1249F Missense 28/42 - 2
19-17025508-A-T c.3745T>A p.S1249T Missense 28/42 - 1
19-17025509-G-A c.3744C>T p.G1248= Synonymous 28/42 - 1
19-17025509-G-C c.3744C>G p.G1248= Synonymous 28/42 - 1
19-17025509-G-T c.3744C>A p.G1248= Synonymous 28/42 - 1
19-17025510-C-A c.3743G>T p.G1248V Missense 28/42 - 1
19-17025510-C-T c.3743G>A p.G1248D Missense 28/42 - 3
19-17025512-A-G c.3741T>C p.D1247= Synonymous 28/42 - 1
19-17025514-C-T c.3739G>A p.D1247N Missense 28/42 - 3
19-17025515-G-A c.3738C>T p.A1246= Synonymous 28/42 - 1
19-17025516-G-A c.3737C>T p.A1246V Missense 28/42 - 1
19-17025517-C-T c.3736G>A p.A1246T Missense 28/42 - 1
19-17025516-G-GC c.3736dup p.A1246Gfs*49 Frameshift 28/42 - 1
19-17025521-C-T c.3732G>A p.Q1244= Synonymous 28/42 - 1
19-17025526-G-C c.3727C>G p.Q1243E Missense 28/42 - 1
19-17025533-G-A c.3720C>T p.I1240= Synonymous 28/42 - 3
19-17025536-C-T c.3717G>A p.W1239* Nonsense 28/42 - 2
19-17025537-C-T c.3716G>A p.W1239* Nonsense 28/42 - 1
19-17025539-G-A c.3714C>T p.S1238= Synonymous 28/42 - 1
19-17025540-CT-AG c.3712_3713inv p.S1238L Missense 28/42 - 1
19-17025541-T-C c.3712A>G p.S1238G Missense 28/42 - 1
19-17025542-C-A c.3711G>T p.K1237N Missense 28/42 - 1
19-17025542-C-G c.3711G>C p.K1237N Missense 28/42 - 1
19-17025547-C-T c.3706G>A p.A1236T Missense 28/42 - 1
19-17025548-G-A c.3705C>T p.A1235= Synonymous 28/42 - 2
19-17025548-G-C c.3705C>G p.A1235= Synonymous 28/42 - 1
19-17025548-G-T c.3705C>A p.A1235= Synonymous 28/42 - 1
19-17025549-G-A c.3704C>T p.A1235V Missense 28/42 - 2
19-17025559-C-T c.3694G>A p.E1232K Missense 28/42 - 3
19-17025560-C-T c.3693G>A p.R1231= Synonymous 28/42 - 1
19-17025561-C-T c.3692G>A p.R1231Q Missense 28/42 - 1
19-17025562-G-A c.3691C>T p.R1231W Missense 28/42 - 1
19-17025563-G-A c.3690C>T p.P1230= Synonymous 28/42 - 3
19-17025563-G-C c.3690C>G p.P1230= Synonymous 28/42 - 1
19-17025563-G-T c.3690C>A p.P1230= Synonymous 28/42 - 1
19-17025565-G-A c.3688C>T p.P1230S Missense 28/42 - 2
19-17025566-G-A c.3687C>T p.D1229= Synonymous 28/42 - 1
19-17025568-C-T c.3685G>A p.D1229N Missense 28/42 - 1
19-17025571-C-T c.3682G>A p.V1228M Missense 28/42 - 4
19-17025572-G-A c.3681C>T p.F1227= Synonymous 28/42 - 5
19-17025572-G-C c.3681C>G p.F1227L Missense 28/42 - 1
19-17025572-G-T c.3681C>A p.F1227L Missense 28/42 - 1
19-17025574-A-G c.3679T>C p.F1227L Missense 28/42 - 5
19-17025576-A-G c.3677T>C p.I1226T Missense 28/42 - 1
19-17025577-T-C c.3676A>G p.I1226V Missense 28/42 - 2
19-17025581-G-A c.3672C>T p.S1224= Synonymous 28/42 - 1
19-17025582-C-G c.3671G>C p.S1224T Missense 28/42 - 1
19-17025584-G-A c.3669C>T p.R1223= Synonymous 28/42 - 2
19-17025585-C-T c.3668G>A p.R1223H Missense 28/42 - 8
19-17025586-G-A c.3667C>T p.R1223C Missense 28/42 - 2
19-17025590-C-A c.3663G>T p.Q1221H Missense 28/42 - 1
19-17025595-C-T c.3658G>A p.A1220T Missense 28/42 - 6
19-17025596-G-A c.3657C>T p.F1219= Synonymous 28/42 - 3
19-17025599-G-A c.3654C>T p.S1218= Synonymous 28/42 - 3
19-17025600-G-C c.3653C>G p.S1218C Missense 28/42 - 1
19-17025601-A-C c.3652T>G p.S1218A Missense 28/42 - 1
19-17025605-C-T c.3648G>A p.L1216= Synonymous 28/42 - 3
19-17025615-G-A c.3638C>T p.A1213V Missense 28/42 - 3
19-17025616-C-T c.3637G>A p.A1213T Missense 28/42 - 2
19-17025618-G-A c.3635C>T p.T1212I Missense 28/42 - 1
19-17025618-G-T c.3635C>A p.T1212K Missense 28/42 - 1
19-17025623-C-A c.3630G>T p.W1210C Missense 28/42 - 1
19-17025623-C-G c.3630G>C p.W1210C Missense 28/42 - 1
19-17030668-A-C c.3629+2047T>G - intron_variant - 27/41 1
19-17032260-C-T c.3629+455G>A - intron_variant - 27/41 1
19-17032315-C-G c.3629+400G>C - IntronicSNV - 27/41 1
19-17032492-ACAG-A c.3629+220_3629+222del - IntronicDeletion - 27/41 2
19-17032550-A-G c.3629+165T>C - intron_variant - 27/41 3
19-17032559-T-C c.3629+156A>G - IntronicSNV - 27/41 3
19-17032667-G-A c.3629+48C>T - intron_variant - 27/41 1
19-17032715-C-T c.3629G>A p.W1210* Nonsense 27/42 - 1
19-17032719-T-A c.3625A>T p.M1209L Missense 27/42 - 1
19-17032723-C-T c.3621G>A p.G1207= Synonymous 27/42 - 1
19-17032724-C-T c.3620G>A p.G1207E Missense 27/42 - 1
19-17032725-C-G c.3619G>C p.G1207R Missense 27/42 - 2
19-17032725-C-T c.3619G>A p.G1207R Missense 27/42 - 2
19-17032726-C-A c.3618G>T p.S1206= Synonymous 27/42 - 2
19-17032726-C-G c.3618G>C p.S1206= Synonymous 27/42 - 1
19-17032726-C-T c.3618G>A p.S1206= Synonymous 27/42 - 3
19-17032727-G-A c.3617C>T p.S1206L Missense 27/42 - 1
19-17032731-C-T c.3613G>A p.A1205T Missense 27/42 - 2
19-17032734-C-T c.3610G>A p.D1204N Missense 27/42 - 2
19-17032736-C-T c.3608G>A p.R1203Q Missense 27/42 - 1
19-17032740-C-A c.3604G>T p.E1202* Nonsense 27/42 - 1
19-17032749-C-T c.3595G>A p.A1199T Missense 27/42 - 1
19-17032750-G-A c.3594C>T p.S1198= Synonymous 27/42 - 4
19-17032750-G-C c.3594C>G p.S1198R Missense 27/42 - 1
19-17032750-G-T c.3594C>A p.S1198R Missense 27/42 - 1
19-17032751-C-T c.3593G>A p.S1198N Missense 27/42 - 3
19-17032752-T-G c.3592A>C p.S1198R Missense 27/42 - 2
19-17032757-G-A c.3587C>T p.S1196F Missense 27/42 - 3
19-17032757-G-C c.3587C>G p.S1196C Missense 27/42 - 2
19-17032764-C-T c.3580G>A p.D1194N Missense 27/42 - 1
19-17032765-C-T c.3579G>A p.Q1193= Synonymous 27/42 - 1
19-17032769-C-T c.3575G>A p.R1192H Missense 27/42 - 4
19-17032770-G-T c.3574C>A p.R1192S Missense 27/42 - 1
19-17032776-A-G c.3568T>C p.Y1190H Missense 27/42 - 1
19-17032781-A-G c.3563T>C p.L1188P Missense 27/42 - 1
19-17032782-G-T c.3562C>A p.L1188M Missense 27/42 - 1
19-17032787-C-T c.3557G>A p.R1186H Missense 27/42 - 1
19-17032788-G-A c.3556C>T p.R1186C Missense 27/42 - 1
19-17032791-G-A c.3553C>T p.Q1185* Nonsense 27/42 - 1
19-17032969-T-C c.3548-173A>G - intron_variant - 26/41 3
19-17034259-C-T c.3548-1463G>A - intron_variant - 26/41 1
19-17035898-C-A c.3547+108G>T - intron_variant - 26/41 2
19-17036006-C-G c.3547G>C p.G1183R Missense 26/42 - 1
19-17036006-C-T c.3547G>A p.G1183S Missense 26/42 - 1
19-17036012-C-A c.3541G>T p.V1181L Missense 26/42 - 1
19-17036012-C-T c.3541G>A p.V1181I Missense 26/42 - 2
19-17036016-G-A c.3537C>T p.Y1179= Synonymous 26/42 - 1
19-17036024-T-C c.3529A>G p.T1177A Missense 26/42 - 3
19-17036025-G-A c.3528C>T p.T1176= Synonymous 26/42 - 1
19-17036026-G-A c.3527C>T p.T1176I Missense 26/42 - 1
19-17036028-C-A c.3525G>T p.E1175D Missense 26/42 - 1
19-17036028-C-G c.3525G>C p.E1175D Missense 26/42 - 1
19-17036031-TCT-CCA c.3520_3522delinsTGG p.R1174W Missense 26/42 - 1
19-17036032-C-G c.3521G>C p.R1174T Missense 26/42 - 1
19-17036032-C-T c.3521G>A p.R1174K Missense 26/42 - 3
19-17036033-T-C c.3520A>G p.R1174G Missense 26/42 - 1
19-17036036-C-A c.3517G>T p.E1173* Nonsense 26/42 - 1
19-17036037-C-T c.3516G>A p.V1172= Synonymous 26/42 - 1
19-17036039-C-T c.3514G>A p.V1172M Missense 26/42 - 1
19-17036045-G-A c.3508C>T p.P1170S Missense 26/42 - 1
19-17036051-G-T c.3502C>A p.L1168I Missense 26/42 - 1
19-17036052-C-G c.3501G>C p.Q1167H Missense 26/42 - 1
19-17036054-G-A c.3499C>T p.Q1167* Nonsense 26/42 - 1
19-17036058-G-C c.3495C>G p.T1165= Synonymous 26/42 - 1
19-17036063-T-A c.3490A>T p.K1164* Nonsense 26/42 - 1
19-17036066-G-A c.3487C>T p.Q1163* Nonsense 26/42 - 4
19-17036071-T-C c.3482A>G p.Y1161C Missense 26/42 - 1
19-17036073-C-T c.3480G>A p.K1160= Synonymous 26/42 - 1
19-17036076-C-A c.3477G>T p.L1159F Missense 26/42 - 1
19-17036076-C-T c.3477G>A p.L1159= Synonymous 26/42 - 2
19-17036078-A-G c.3475T>C p.L1159= Synonymous 26/42 - 2
19-17036079-G-A c.3474C>T p.V1158= Synonymous 26/42 - 4
19-17036087-C-T c.3466G>A p.V1156I missense_variant 26/42 - 8
19-17036089-T-C c.3464A>G p.N1155S Missense 26/42 - 1
19-17036092-G-T c.3461C>A p.P1154H Missense 26/42 - 1
19-17036095-G-A c.3458C>T p.A1153V Missense 26/42 - 1
19-17036096-C-A c.3457G>T p.A1153S Missense 26/42 - 2
19-17036101-T-C c.3452A>G p.H1151R Missense 26/42 - 1
19-17036103-G-A c.3450C>T p.I1150= Synonymous 26/42 - 1
19-17036106-C-A c.3447G>T p.M1149I Missense 26/42 - 1
19-17036106-C-G c.3447G>C p.M1149I Missense 26/42 - 1
19-17036106-C-T c.3447G>A p.M1149I Missense 26/42 - 3
19-17036107-A-G c.3446T>C p.M1149T Missense 26/42 - 2
19-17036108-T-C c.3445A>G p.M1149V Missense 26/42 - 1
19-17036120-C-T c.3433G>A p.G1145R Missense 26/42 - 1
19-17036123-A-C c.3430T>G p.C1144G Missense 26/42 - 4
19-17036129-A-G c.3424T>C p.F1142L Missense 26/42 - 1
19-17036130-C-A c.3423G>T p.P1141= Synonymous 26/42 - 2
19-17036130-C-G c.3423G>C p.P1141= Synonymous 26/42 - 2
19-17036130-C-T c.3423G>A p.P1141= Synonymous 26/42 - 3
19-17036131-G-A c.3422C>T p.P1141L Missense 26/42 - 1
19-17036136-CC-AT c.3416_3417delinsAT p.R1139H Missense 26/42 - 1
19-17036137-C-G c.3416G>C p.R1139P Missense 26/42 - 2
19-17036137-C-T c.3416G>A p.R1139Q Missense 26/42 - 2
19-17036136-C-A c.3417G>T p.R1139= Synonymous 26/42 - 1
19-17036136-C-G c.3417G>C p.R1139= Synonymous 26/42 - 1
19-17036136-C-T c.3417G>A p.R1139= Synonymous 26/42 - 1
19-17036138-G-T c.3415C>A p.R1139= Synonymous 26/42 - 1
19-17036142-G-A c.3411C>T p.L1137= Synonymous 26/42 - 1
19-17036144-G-A c.3409C>T p.L1137F Missense 26/42 - 1
19-17036149-T-C c.3404A>G p.N1135S Missense 26/42 - 2
19-17036152-A-G c.3401T>C p.L1134P Missense 26/42 - 1
19-17036153-G-A c.3400C>T p.L1134F Missense 26/42 - 1
19-17036156-G-A c.3397C>T p.H1133Y Missense 26/42 - 1
19-17036160-CAG-AAA c.3391_3393delinsTTT p.L1131F Missense 26/42 - 1
19-17036167-G-A c.3386C>T p.P1129L Missense 26/42 - 3
19-17036170-C-T c.3383G>A p.G1128E Missense 26/42 - 1
19-17036175-G-A c.3378C>T p.V1126= Synonymous 26/42 - 2
19-17036177-C-A c.3376G>T p.V1126F Missense 26/42 - 1
19-17036177-C-T c.3376G>A p.V1126I Missense 26/42 - 2
19-17036178-G-A c.3375C>T p.D1125= Synonymous 26/42 - 1
19-17036181-C-T c.3372G>A p.G1124= Synonymous 26/42 - 2
19-17036182-C-G c.3371G>C p.G1124A Missense 26/42 - 1
19-17036182-C-T c.3371G>A p.G1124E Missense 26/42 - 5
19-17036195-A-T c.3371-13T>A - splice_polypyrimidine_tract_variant,intron_variant - 25/41 1
19-17038773-C-G c.3370+46G>C - intron_variant - 25/41 1
19-17038773-C-T c.3370+46G>A - intron_variant - 25/41 1
19-17038814-C-T c.3370+5G>A - IntronicSNV - 25/41 1
19-17038815-G-A c.3370+4C>T - splice_donor_region_variant,intron_variant - 25/41 1
19-17038818-C-T c.3370+1G>A - IntronicSNV - 25/41 2
19-17038819-C-G c.3370G>C p.G1124R Missense 25/42 - 1
19-17038819-C-T c.3370G>A p.G1124R Missense 25/42 - 3
19-17038820-G-C c.3369C>G p.I1123M Missense 25/42 - 1
19-17038825-T-C c.3364A>G p.I1122V Missense 25/42 - 1
19-17038826-G-A c.3363C>T p.S1121= Synonymous 25/42 - 3
19-17038827-G-A c.3362C>T p.S1121F Missense 25/42 - 1
19-17038831-C-T c.3358G>A p.A1120T Missense 25/42 - 5
19-17038832-G-A c.3357C>T p.T1119= Synonymous 25/42 - 1
19-17038832-G-C c.3357C>G p.T1119= Synonymous 25/42 - 1
19-17038832-G-T c.3357C>A p.T1119= Synonymous 25/42 - 1
19-17038833-G-A c.3356C>T p.T1119I Missense 25/42 - 3
19-17038836-G-A c.3353C>T p.A1118V Missense 25/42 - 1
19-17038839-C-T c.3350G>A p.R1117Q Missense 25/42 - 11
19-17038840-G-A c.3349C>T p.R1117* Nonsense 25/42 - 2
19-17038841-C-A c.3348G>T p.E1116D Missense 25/42 - 1
19-17038841-C-G c.3348G>C p.E1116D Missense 25/42 - 1
19-17038843-C-T c.3346G>A p.E1116K Missense 25/42 - 2
19-17038851-G-C c.3338C>G p.P1113R Missense 25/42 - 1
19-17038851-G-T c.3338C>A p.P1113H Missense 25/42 - 1
19-17038852-G-A c.3337C>T p.P1113S Missense 25/42 - 2
19-17038853-G-A c.3336C>T p.I1112= Synonymous 25/42 - 1
19-17038855-T-C c.3334A>G p.I1112V Missense 25/42 - 1
19-17038857-G-A c.3332C>T p.A1111V Missense 25/42 - 1
19-17038857-G-T c.3332C>A p.A1111D Missense 25/42 - 1
19-17038858-C-T c.3331G>A p.A1111T Missense 25/42 - 4
19-17038859-G-A c.3330C>T p.G1110= Synonymous 25/42 - 4
19-17038859-G-C c.3330C>G p.G1110= Synonymous 25/42 - 2
19-17038859-G-T c.3330C>A p.G1110= Synonymous 25/42 - 2
19-17038862-G-A c.3327C>T p.H1109= Synonymous 25/42 - 2
19-17038862-G-C c.3327C>G p.H1109Q Missense 25/42 - 1
19-17038862-G-T c.3327C>A p.H1109Q Missense 25/42 - 1
19-17038863-T-C c.3326A>G p.H1109R Missense 25/42 - 1
19-17038866-G-T c.3323C>A p.P1108Q Missense 25/42 - 1
19-17038867-G-A c.3322C>T p.P1108S Missense 25/42 - 1
19-17038868-G-A c.3321C>T p.V1107= Synonymous 25/42 - 1
19-17038868-G-C c.3321C>G p.V1107= Synonymous 25/42 - 1
19-17038868-G-T c.3321C>A p.V1107= Synonymous 25/42 - 1
19-17038873-C-T c.3316G>A p.G1106R Missense 25/42 - 1
19-17038874-C-T c.3315G>A p.L1105= Synonymous 25/42 - 3
19-17038875-A-G c.3314T>C p.L1105P Missense 25/42 - 1
19-17038878-G-A c.3311C>T p.T1104I Missense 25/42 - 5
19-17038880-G-A c.3309C>T p.F1103= Synonymous 25/42 - 1
19-17038883-G-T c.3306C>A p.A1102= Synonymous 25/42 - 1
19-17038884-G-A c.3305C>T p.A1102V Missense 25/42 - 1
19-17038885-C-G c.3304G>C p.A1102P Missense 25/42 - 2
19-17038888-C-T c.3301G>A p.E1101K Missense 25/42 - 4
19-17038889-G-A c.3300C>T p.S1100S synonymous_variant 25/42 - 2
19-17038892-G-T c.3297C>A p.Y1099* Nonsense 25/42 - 1
19-17038893-T-C c.3296A>G p.Y1099C Missense 25/42 - 4
19-17038894-A-G c.3295T>C p.Y1099H Missense 25/42 - 4
19-17038900-C-T c.3289G>A p.E1097K Missense 25/42 - 6
19-17038904-C-T c.3285G>A p.V1095= Synonymous 25/42 - 1
19-17038905-A-G c.3284T>C p.V1095A Missense 25/42 - 1
19-17038906-C-A c.3283G>T p.V1095L Missense 25/42 - 1
19-17038906-C-T c.3283G>A p.V1095M Missense 25/42 - 1
19-17038909-C-A c.3280G>T p.E1094* Nonsense 25/42 - 1
19-17038912-T-C c.3277A>G p.M1093V Missense 25/42 - 2
19-17038917-C-T c.3272G>A p.R1091K Missense 25/42 - 1
19-17038922-G-C c.3267C>G p.I1089M Missense 25/42 - 1
19-17038925-TCG-ACA c.3262_3264delinsTGT p.R1088C Missense 25/42 - 1
19-17038926-C-T c.3263G>A p.R1088Q Missense 25/42 - 11
19-17038927-G-A c.3262C>T p.R1088* Nonsense 25/42 - 4
19-17038928-G-A c.3261C>T p.F1087= Synonymous 25/42 - 1
19-17038938-A-G c.3251T>C p.M1084T Missense 25/42 - 1
19-17038941-GA-AG c.3247_3248delinsCT p.S1083L Missense 25/42 - 1
19-17038946-C-T c.3243G>A p.W1081* Nonsense 25/42 - 1
19-17038947-C-T c.3242G>A p.W1081* Nonsense 25/42 - 1
19-17038948-A-G c.3241T>C p.W1081R Missense 25/42 - 1
19-17038948-A-T c.3241T>A p.W1081R Missense 25/42 - 1
19-17038951-C-T c.3238G>A p.G1080S Missense 25/42 - 1
19-17038952-G-A c.3237C>T p.T1079= Synonymous 25/42 - 2
19-17038952-G-C c.3237C>G p.T1079= Synonymous 25/42 - 1
19-17038952-G-T c.3237C>A p.T1079= Synonymous 25/42 - 3
19-17038953-G-A c.3236C>T p.T1079I Missense 25/42 - 1
19-17038954-T-C c.3235A>G p.T1079A Missense 25/42 - 1
19-17038955-G-A c.3234C>T p.S1078= Synonymous 25/42 - 2
19-17038956-G-A c.3233C>T p.S1078F Missense 25/42 - 6
19-17038967-G-A c.3222C>T p.F1074= Synonymous 25/42 - 1
19-17038971-T-C c.3218A>G p.Q1073R Missense 25/42 - 1
19-17038973-G-A c.3216C>T p.V1072= Synonymous 25/42 - 1
19-17038976-C-A c.3213G>T p.E1071D Missense 25/42 - 2
19-17038976-C-G c.3213G>C p.E1071D Missense 25/42 - 1
19-17038976-C-T c.3213G>A p.E1071= Synonymous 25/42 - 1
19-17038981-G-A c.3208C>T p.P1070S Missense 25/42 - 1
19-17038981-G-T c.3208C>A p.P1070T Missense 25/42 - 2
19-17038984-G-A c.3205C>T p.P1069S Missense 25/42 - 3
19-17038989-G-A c.3200C>T p.P1067L Missense 25/42 - 2
19-17038993-G-A c.3196C>T p.L1066F Missense 25/42 - 1
19-17038999-AG-A c.3189del p.W1064Gfs*68 Frameshift 25/42 - 1
19-17039001-G-A c.3188C>T p.A1063V Missense 25/42 - 1
19-17039002-C-T c.3187G>A p.A1063T Missense 25/42 - 1
19-17039004-A-C c.3185T>G p.V1062G Missense 25/42 - 1
19-17039005-C-T c.3184G>A p.V1062M Missense 25/42 - 1
19-17039007-A-G c.3182T>C p.I1061T Missense 25/42 - 1
19-17039008-T-A c.3181A>T p.I1061F Missense 25/42 - 2
19-17039014-A-G c.3175T>C p.S1059P Missense 25/42 - 1
19-17039016-T-G c.3173A>C p.E1058A Missense 25/42 - 1
19-17039019-T-C c.3170A>G p.N1057S Missense 25/42 - 7
19-17039020-T-A c.3169A>T p.N1057Y Missense 25/42 - 1
19-17039021-G-A c.3168C>T p.S1056= Synonymous 25/42 - 1
19-17039021-G-C c.3168C>G p.S1056= Synonymous 25/42 - 2
19-17039021-G-T c.3168C>A p.S1056= Synonymous 25/42 - 1
19-17039022-G-A c.3167C>T p.S1056F Missense 25/42 - 2
19-17039023-A-C c.3166T>G p.S1056A Missense 25/42 - 3
19-17039024-T-A c.3165A>T p.P1055= Synonymous 25/42 - 1
19-17039028-T-C c.3161A>G p.E1054G Missense 25/42 - 1
19-17039034-C-T c.3155G>A p.G1052D Missense 25/42 - 1
19-17039035-C-A c.3154G>T p.G1052C Missense 25/42 - 1
19-17039035-C-T c.3154G>A p.G1052S Missense 25/42 - 1
19-17039038-G-A c.3151C>T p.H1051Y Missense 25/42 - 1
19-17039040-C-T c.3149G>A p.G1050D Missense 25/42 - 1
19-17039041-C-T c.3148G>A p.G1050S Missense 25/42 - 1
19-17039579-G-GT c.3144+172dup - IntronicInsertion - 24/41 1
19-17039579-GT-G c.3144+172del - IntronicDeletion - 24/41 1
19-17039769-G-A c.3127C>T p.R1043C missense_variant 24/42 - 2
19-17039769-G-T c.3127C>A p.R1043S Missense 24/42 - 5
19-17039770-C-A c.3126G>T p.W1042C Missense 24/42 - 1
19-17039770-C-G c.3126G>C p.W1042C Missense 24/42 - 1
19-17039776-G-A c.3120C>T p.I1040= Synonymous 24/42 - 3
19-17039777-A-G c.3119T>C p.I1040T Missense 24/42 - 1
19-17039779-C-T c.3117G>A p.W1039* Nonsense 24/42 - 2
19-17039782-G-A c.3114C>T p.F1038= Synonymous 24/42 - 2
19-17039789-C-G c.3107G>C p.R1036T Missense 24/42 - 6
19-17039796-C-T c.3100G>A p.E1034K Missense 24/42 - 5
19-17039799-C-T c.3097G>A p.D1033N Missense 24/42 - 1
19-17039800-C-T c.3096G>A p.W1032* Nonsense 24/42 - 2
19-17039806-G-A c.3090C>T p.L1030= Synonymous 24/42 - 1
19-17039806-G-C c.3090C>G p.L1030= Synonymous 24/42 - 1
19-17039806-G-T c.3090C>A p.L1030= Synonymous 24/42 - 1
19-17039808-G-C c.3088C>G p.L1030V Missense 24/42 - 1
19-17039812-C-A c.3084G>T p.K1028N Missense 24/42 - 1
19-17039817-C-T c.3079G>A p.A1027T Missense 24/42 - 3
19-17039818-C-A c.3078G>T p.T1026= Synonymous 24/42 - 1
19-17039818-C-G c.3078G>C p.T1026= Synonymous 24/42 - 1
19-17039818-C-T c.3078G>A p.T1026= Synonymous 24/42 - 1
19-17039824-T-A c.3072A>T p.A1024= Synonymous 24/42 - 1
19-17039826-C-T c.3070G>A p.A1024T Missense 24/42 - 1
19-17039834-A-G c.3062T>C p.V1021A Missense 24/42 - 2
19-17039834-A-T c.3062T>A p.V1021E Missense 24/42 - 1
19-17039835-C-T c.3061G>A p.V1021M Missense 24/42 - 1
19-17039836-G-A c.3060C>T p.P1020= Synonymous 24/42 - 1
19-17039836-G-C c.3060C>G p.P1020= Synonymous 24/42 - 1
19-17039836-G-T c.3060C>A p.P1020= Synonymous 24/42 - 1
19-17039838-G-A c.3058C>T p.P1020S Missense 24/42 - 2
19-17039844-C-A c.3052G>T p.G1018* Nonsense 24/42 - 1
19-17039847-T-C c.3049A>G p.M1017V Missense 24/42 - 1
19-17039853-T-A c.3043A>T p.S1015C Missense 24/42 - 1
19-17039855-G-A c.3041C>T p.T1014I Missense 24/42 - 1
19-17039855-G-T c.3041C>A p.T1014N Missense 24/42 - 3
19-17039857-G-A c.3039C>T p.S1013= Synonymous 24/42 - 1
19-17039861-A-T c.3035T>A p.I1012N Missense 24/42 - 1
19-17039864-C-T c.3032G>A p.W1011* Nonsense 24/42 - 4
19-17039867-G-A c.3029C>T p.S1010L Missense 24/42 - 2
19-17039870-CT-TG c.3025_3026delinsCA p.R1009Q Missense 24/42 - 1
19-17039878-C-T c.3018G>A p.Q1006= Synonymous 24/42 - 1
19-17039884-C-T c.3012G>A p.G1004= Synonymous 24/42 - 1
19-17039885-C-T c.3011G>A p.G1004E Missense 24/42 - 1
19-17039886-C-G c.3010G>C p.G1004R Missense 24/42 - 2
19-17039887-C-A c.3009G>T p.G1003= Synonymous 24/42 - 1
19-17039887-C-G c.3009G>C p.G1003= Synonymous 24/42 - 1
19-17039887-C-T c.3009G>A p.G1003= Synonymous 24/42 - 1
19-17039888-C-A c.3008G>T p.G1003V Missense 24/42 - 1
19-17039888-C-G c.3008G>C p.G1003A Missense 24/42 - 1
19-17039883-GC-G c.3012del p.H1005Ifs*127 Frameshift 24/42 - 4
19-17039883-G-GC c.3012dup p.H1005Afs*30 Frameshift 24/42 - 2
19-17039891-A-C c.3005T>G p.L1002R Missense 24/42 - 1
19-17039895-C-T c.3001G>A p.V1001I Missense 24/42 - 6
19-17039896-G-A c.3000C>T p.I1000= Synonymous 24/42 - 7
19-17039896-G-T c.3000C>A p.I1000= Synonymous 24/42 - 1
19-17039899-C-T c.2997G>A p.E999= Synonymous 24/42 - 1
19-17039901-C-T c.2995G>A p.E999K Missense 24/42 - 2
19-17039902-G-A c.2994C>T p.I998= Synonymous 24/42 - 2
19-17039905-C-A c.2991G>T p.M997I Missense 24/42 - 2
19-17039905-C-G c.2991G>C p.M997I Missense 24/42 - 2
19-17039905-C-T c.2991G>A p.M997I Missense 24/42 - 2
19-17039907-T-C c.2989A>G p.M997V Missense 24/42 - 1
19-17039919-C-A c.2977G>T p.D993Y Missense 24/42 - 1
19-17039919-C-T c.2977G>A p.D993N Missense 24/42 - 4
19-17039920-C-T c.2976G>A p.Q992= Synonymous 24/42 - 2
19-17039921-T-C c.2975A>G p.Q992R Missense 24/42 - 2
19-17039924-G-A c.2972C>T p.P991L Missense 24/42 - 1
19-17039927-C-G c.2969G>C p.G990A Missense 24/42 - 1
19-17039931-A-T c.2965T>A p.S989T Missense 24/42 - 7
19-17039933-G-A c.2963C>T p.S988F Missense 24/42 - 1
19-17039937-A-G c.2959T>C p.L987= Synonymous 24/42 - 1
19-17039941-C-T c.2955G>A p.V985= Synonymous 24/42 - 1
19-17039945-C-T c.2951G>A p.R984H Missense 24/42 - 1
19-17039946-G-A c.2950C>T p.R984C Missense 24/42 - 2
19-17039947-GG-CT c.2948_2949delinsAG p.A983E Missense 24/42 - 1
19-17039948-G-A c.2948C>T p.A983V Missense 24/42 - 4
19-17039964-G-A c.2932C>T p.R978* stop_gained 24/42 - 1
19-17039964-G-T c.2932C>A p.R978R synonymous_variant 24/42 - 1
19-17039976-C-T c.2920G>A p.D974N Missense 24/42 - 5
19-17039977-A-C c.2919T>G p.F973L Missense 24/42 - 1
19-17039978-A-G c.2918T>C p.F973S Missense 24/42 - 1
19-17039981-C-T c.2915G>A p.R972H Missense 24/42 - 3
19-17039982-G-A c.2914C>T p.R972C Missense 24/42 - 3
19-17039990-C-A c.2906G>T p.R969L Missense 24/42 - 1
19-17039990-C-T c.2906G>A p.R969H Missense 24/42 - 1
19-17039991-G-A c.2905C>T p.R969C Missense 24/42 - 2
19-17039991-G-T c.2905C>A p.R969S Missense 24/42 - 2
19-17039993-A-G c.2903T>C p.L968P Missense 24/42 - 1
19-17039999-C-T c.2897G>A p.R966Q Missense 24/42 - 1
19-17040000-G-A c.2896C>T p.R966W Missense 24/42 - 1
19-17040001-C-T c.2895G>A p.Q965= Synonymous 24/42 - 1
19-17040002-T-A c.2894A>T p.Q965L Missense 24/42 - 2
19-17040002-T-C c.2894A>G p.Q965R Missense 24/42 - 1
19-17040007-A-G c.2889T>C p.Y963= Synonymous 24/42 - 3
19-17040011-T-C c.2885A>G p.Q962R Missense 24/42 - 2
19-17040015-A-T c.2881T>A p.F961I Missense 24/42 - 1
19-17040017-T-C c.2879A>G p.E960G Missense 24/42 - 2
19-17040018-C-T c.2878G>A p.E960K Missense 24/42 - 1
19-17040019-A-C c.2877T>G p.Y959* Nonsense 24/42 - 1
19-17040019-A-T c.2877T>A p.Y959* Nonsense 24/42 - 1
19-17040020-T-G c.2876A>C p.Y959S Missense 24/42 - 1
19-17040029-G-C c.2867C>G p.P956R Missense 24/42 - 1
19-17040030-G-A c.2866C>T p.P956S Missense 24/42 - 1
19-17040036-A-C c.2860T>G p.S954A Missense 24/42 - 1
19-17040037-G-T c.2859C>A p.I953= Synonymous 24/42 - 1
19-17040046-T-G c.2850A>C p.R950S Missense 24/42 - 1
19-17040047-C-T c.2849G>A p.R950K Missense 24/42 - 3
19-17040048-T-A c.2848A>T p.R950* Nonsense 24/42 - 1
19-17040049-C-G c.2847G>C p.E949D Missense 24/42 - 1
19-17040049-C-T c.2847G>A p.E949= Synonymous 24/42 - 1
19-17049206-A-T c.2844T>A p.S948R Missense 23/42 - 1
19-17049207-C-A c.2843G>T p.S948I Missense 23/42 - 1
19-17049210-G-A c.2840C>T p.P947L Missense 23/42 - 1
19-17049215-G-A c.2835C>T p.F945= Synonymous 23/42 - 1
19-17049216-A-G c.2834T>C p.F945S Missense 23/42 - 1
19-17049218-G-A c.2832C>T p.F944= Synonymous 23/42 - 1
19-17049225-CT-AG c.2824_2825inv p.S942L Missense 23/42 - 1
19-17049226-T-A c.2824A>T p.S942C Missense 23/42 - 1
19-17049230-G-A c.2820C>T p.T940= Synonymous 23/42 - 1
19-17049230-G-C c.2820C>G p.T940= Synonymous 23/42 - 1
19-17049238-C-T c.2812G>A p.A938T Missense 23/42 - 4
19-17049239-CCG-GCT c.2809_2811delinsAGC p.R937S Missense 23/42 - 1
19-17049240-C-A c.2810G>T p.R937L Missense 23/42 - 2
19-17049240-C-T c.2810G>A p.R937Q Missense 23/42 - 2
19-17049243-G-A c.2948C>T p.A983V Missense 24/42 - 1
19-17049244-G-A c.2806C>T p.P936S Missense 23/42 - 2
19-17049244-G-T c.2806C>A p.P936T Missense 23/42 - 1
19-17049245-G-A c.2805C>T p.V935= Synonymous 23/42 - 3
19-17049245-G-C c.2805C>G p.V935= Synonymous 23/42 - 1
19-17049245-G-T c.2805C>A p.V935= Synonymous 23/42 - 1
19-17049247-C-T c.2803G>A p.V935I Missense 23/42 - 3
19-17049249-CC-TT c.2800_2801delinsAA p.G934K Missense 23/42 - 2
19-17049249-C-T c.2801G>A p.G934E Missense 23/42 - 1
19-17049250-C-T c.2800G>A p.G934R Missense 23/42 - 1
19-17049251-T-A c.2799A>T p.E933D Missense 23/42 - 1
19-17049251-T-G c.2799A>C p.E933D Missense 23/42 - 1
19-17049253-C-T c.2797G>A p.E933K Missense 23/42 - 1
19-17049254-C-A c.2796G>T p.A932= Synonymous 23/42 - 3
19-17049254-C-G c.2796G>C p.A932= Synonymous 23/42 - 2
19-17049254-C-T c.2796G>A p.A932= Synonymous 23/42 - 3
19-17049255-G-A c.2795C>T p.A932V Missense 23/42 - 1
19-17049256-C-T c.2794G>A p.A932T Missense 23/42 - 1
19-17049325-C-A c.2794-69G>T - intron_variant - 22/41 1
19-17050001-C-G c.2794-745G>C - intron_variant - 22/41 1
19-17050001-C-T c.2794-745G>A - intron_variant - 22/41 1
19-17050712-T-A c.2794-1456A>T - intron_variant - 22/41 1
19-17050712-T-G c.2794-1456A>C - intron_variant - 22/41 1
19-17056145-G-A c.2793+214C>T - IntronicSNV - 22/41 1
19-17056294-G-C c.2793+65C>G - IntronicSNV - 22/41 3
19-17056360-T-G c.2792A>C p.E931A Missense 22/42 - 1
19-17056363-A-G c.2789T>C p.V930A Missense 22/42 - 1
19-17056370-C-A c.2782G>T p.V928L Missense 22/42 - 1
19-17056370-C-T c.2782G>A p.V928M Missense 22/42 - 1
19-17056375-C-T c.2777G>A p.R926H Missense 22/42 - 1
19-17056376-G-A c.2776C>T p.R926C Missense 22/42 - 3
19-17056377-CCT-ACA c.2773_2775delinsTGT p.R925C Missense 22/42 - 1
19-17056377-C-T c.2775G>A p.R925= Synonymous 22/42 - 2
19-17056379-T-G c.2773A>C p.R925= Synonymous 22/42 - 1
19-17056378-C-T c.2774G>A p.R925K Missense 22/42 - 1
19-17056382-C-A c.2770G>T p.V924F Missense 22/42 - 1
19-17056388-C-T c.2764G>A p.D922N Missense 22/42 - 3
19-17056389-C-T c.2763G>A p.V921= Synonymous 22/42 - 3
19-17056392-C-T c.2760G>A p.G920= Synonymous 22/42 - 2
19-17056393-C-T c.2759G>A p.G920E Missense 22/42 - 3
19-17056394-C-T c.2758G>A p.G920R Missense 22/42 - 1
19-17056395-G-A c.2757C>T p.I919= Synonymous 22/42 - 1
19-17056397-T-A c.2755A>T p.I919F Missense 22/42 - 1
19-17056401-G-T c.2751C>A p.V917= Synonymous 22/42 - 1
19-17056403-C-A c.2749G>T p.V917F Missense 22/42 - 2
19-17056408-C-T c.2744G>A p.R915K Missense 22/42 - 3
19-17056412-C-T c.2740G>A p.D914N Missense 22/42 - 1
19-17056414-G-A c.2738C>T p.A913V Missense 22/42 - 1
19-17056415-C-A c.2737G>T p.A913S Missense 22/42 - 1
19-17056415-C-T c.2737G>A p.A913T Missense 22/42 - 3
19-17056416-G-A c.2736C>T p.H912= Synonymous 22/42 - 2
19-17056418-G-C c.2734C>G p.H912D Missense 22/42 - 1
19-17056421-TTCTCCTCA-T c.2724_2731del p.E909Sfs*20 Frameshift 22/42 - 1
19-17056424-C-T c.2728G>A p.E910K Missense 22/42 - 1
19-17056426-T-C c.2726A>G p.E909G Missense 22/42 - 1
19-17056430-G-A c.2722C>T p.P908S Missense 22/42 - 1
19-17056431-G-A c.2721C>T p.H907= Synonymous 22/42 - 2
19-17056434-T-C c.2718A>G p.K906= Synonymous 22/42 - 1
19-17056439-T-A c.2713A>T p.S905C Missense 22/42 - 1
19-17056444-C-T c.2708G>A p.R903K Missense 22/42 - 1
19-17056446-CCC-GCT c.2704_2706delinsAGC p.G902S Missense 22/42 - 1
19-17056447-C-T c.2705G>A p.G902E Missense 22/42 - 1
19-17056451-C-T c.2701G>A p.D901N Missense 22/42 - 2
19-17056453-C-A c.2699G>T p.R900L Missense 22/42 - 1
19-17056454-G-C c.2698C>G p.R900G Missense 22/42 - 1
19-17056455-G-A c.2697C>T p.C899= Synonymous 22/42 - 2
19-17056455-G-C c.2697C>G p.C899W Missense 22/42 - 1
19-17056469-C-T c.2683G>A p.D895N Missense 22/42 - 2
19-17056471-C-T c.2681G>A p.G894E Missense 22/42 - 4
19-17056472-C-G c.2680G>C p.G894R Missense 22/42 - 1
19-17056472-C-T c.2680G>A p.G894R Missense 22/42 - 5
19-17056473-G-A c.2679C>T p.Y893= Synonymous 22/42 - 3
19-17056482-G-A c.2670C>T p.A890= Synonymous 22/42 - 1
19-17056483-G-A c.2669C>T p.A890V Missense 22/42 - 4
19-17056484-C-T c.2668G>A p.A890T Missense 22/42 - 1
19-17056487-T-C c.2665A>G p.K889E Missense 22/42 - 1
19-17056676-T-A c.2663-187A>T - intron_variant - 21/41 1
19-17056676-T-C c.2663-187A>G - intron_variant - 21/41 1
19-17057498-G-A c.2662+386C>T - intron_variant - 21/41 1
19-17057560-T-G c.2662+324A>C - intron_variant - 21/41 1
19-17057594-C-A c.2662+290G>T - intron_variant - 21/41 1
19-17057594-C-G c.2662+290G>C - intron_variant - 21/41 1
19-17057594-C-T c.2662+290G>A - intron_variant - 21/41 1
19-17057881-C-A c.2662+3G>T - IntronicSNV - 21/41 1
19-17057884-C-T c.2662G>A p.A888T Missense 21/42 - 2
19-17057885-C-A c.2661G>T p.T887= Synonymous 21/42 - 1
19-17057885-C-G c.2661G>C p.T887= Synonymous 21/42 - 1
19-17057885-C-T c.2661G>A p.T887= Synonymous 21/42 - 1
19-17057890-T-A c.2656A>T p.I886F Missense 21/42 - 1
19-17057892-T-C c.2654A>G p.N885S Missense 21/42 - 2
19-17057902-C-T c.2644G>A p.G882R Missense 21/42 - 1
19-17057903-C-A c.2643G>T p.L881= Synonymous 21/42 - 1
19-17057903-C-G c.2643G>C p.L881= Synonymous 21/42 - 1
19-17057903-C-T c.2643G>A p.L881= Synonymous 21/42 - 1
19-17057905-G-A c.2641C>T p.L881= Synonymous 21/42 - 1
19-17057905-G-T c.2641C>A p.L881M Missense 21/42 - 1
19-17057908-C-T c.2638G>A p.D880N Missense 21/42 - 4
19-17057909-G-A c.2637C>T p.S879= Synonymous 21/42 - 2
19-17057910-C-A c.2636G>T p.S879I Missense 21/42 - 1
19-17057911-T-C c.2635A>G p.S879G Missense 21/42 - 1
19-17057916-G-A c.2630C>T p.S877F Missense 21/42 - 2
19-17057916-G-T c.2630C>A p.S877Y Missense 21/42 - 1
19-17057918-C-A c.2628G>T p.L876= Synonymous 21/42 - 1
19-17057919-A-G c.2627T>C p.L876P Missense 21/42 - 1
19-17057921-AA-CT c.2624_2625delinsAG p.V875E Missense 21/42 - 1
19-17057923-C-G c.2623G>C p.V875L Missense 21/42 - 1
19-17057923-C-T c.2623G>A p.V875I Missense 21/42 - 3
19-17057924-G-A c.2622C>T p.V874= Synonymous 21/42 - 2
19-17057928-C-A c.2618G>T p.W873L Missense 21/42 - 1
19-17057933-G-A c.2613C>T p.P871= Synonymous 21/42 - 2
19-17057934-G-A c.2612C>T p.P871L Missense 21/42 - 1
19-17057937-T-C c.2609A>G p.E870G Missense 21/42 - 2
19-17057938-C-G c.2608G>C p.E870Q Missense 21/42 - 1
19-17057942-C-T c.2604G>A p.E868= Synonymous 21/42 - 1
19-17057940-GCCT-G c.2603_2605del p.E868del InFrameDeletion 21/42 - 1
19-17057946-C-A c.2600G>T p.G867V Missense 21/42 - 1
19-17057946-C-T c.2600G>A p.G867E Missense 21/42 - 2
19-17057950-G-A c.2596C>T p.P866S Missense 21/42 - 2
19-17057952-G-A c.2594C>T p.A865V Missense 21/42 - 1
19-17057956-C-A c.2590G>T p.V864L Missense 21/42 - 5
19-17057956-C-G c.2590G>C p.V864L Missense 21/42 - 5
19-17057957-A-G c.2589T>C p.C863= Synonymous 21/42 - 1
19-17057960-C-G c.2586G>C p.M862I Missense 21/42 - 1
19-17057963-C-G c.2583G>C p.K861N Missense 21/42 - 1
19-17057972-CAC-GAT c.2572_2574delinsATC p.V858I Missense 21/42 - 1
19-17057974-C-A c.2572G>T p.V858L Missense 21/42 - 2
19-17057974-C-G c.2572G>C p.V858L Missense 21/42 - 2
19-17057979-C-G c.2567G>C p.R856P Missense 21/42 - 1
19-17057979-C-T c.2567G>A p.R856H Missense 21/42 - 3
19-17057980-G-A c.2566C>T p.R856C Missense 21/42 - 2
19-17057981-T-G c.2565A>C p.K855N Missense 21/42 - 1
19-17057985-C-T c.2561G>A p.G854D Missense 21/42 - 3
19-17057988-G-A c.2558C>T p.P853L Missense 21/42 - 4
19-17057989-G-A c.2557C>T p.P853S Missense 21/42 - 2
19-17057992-G-T c.2554C>A p.H852N Missense 21/42 - 1
19-17057994-C-T c.2552G>A p.G851E Missense 21/42 - 1
19-17057997-A-T c.2549T>A p.V850D Missense 21/42 - 7
19-17057998-C-G c.2548G>C p.V850L Missense 21/42 - 1
19-17057998-C-T c.2548G>A p.V850I Missense 21/42 - 1
19-17058003-T-C c.2543A>G p.Q848R Missense 21/42 - 2
19-17058009-C-A c.2537G>T p.G846V Missense 21/42 - 1
19-17058013-T-C c.2533A>G p.K845E Missense 21/42 - 1
19-17058016-G-A c.2530C>T p.P844S Missense 21/42 - 3
19-17058018-A-G c.2528T>C p.V843A Missense 21/42 - 2
19-17058019-C-A c.2527G>T p.V843F Missense 21/42 - 1
19-17058020-C-A c.2526G>T p.S842= Synonymous 21/42 - 1
19-17058020-C-G c.2526G>C p.S842= Synonymous 21/42 - 1
19-17058020-C-T c.2526G>A p.S842= Synonymous 21/42 - 2
19-17058021-G-A c.2525C>T p.S842L Missense 21/42 - 1
19-17058029-C-A c.2517G>T p.M839I Missense 21/42 - 1
19-17058029-C-G c.2517G>C p.M839I Missense 21/42 - 1
19-17058029-C-T c.2517G>A p.M839I Missense 21/42 - 6
19-17058030-A-C c.2516T>G p.M839R Missense 21/42 - 1
19-17058031-T-C c.2515A>G p.M839V Missense 21/42 - 2
19-17058032-G-A c.2514C>T p.Y838= Synonymous 21/42 - 1
19-17058034-A-G c.2512T>C p.Y838H Missense 21/42 - 1
19-17058037-C-T c.2509G>A p.V837M Missense 21/42 - 1
19-17059284-C-T c.2509-1247G>A - intron_variant - 20/41 1
19-17062600-C-A c.2508+179G>T - IntronicSNV - 20/41 1
19-17062644-T-C c.2508+135A>G - IntronicSNV - 20/41 3
19-17062718-ACC-A c.2508+60_2508+61del - IntronicDeletion - 20/41 1
19-17062784-C-T c.2503G>A p.A835T Missense 20/42 - 2
19-17062785-G-A c.2502C>T p.C834= Synonymous 20/42 - 1
19-17062788-G-A c.2499C>T p.T833= Synonymous 20/42 - 1
19-17062788-G-C c.2499C>G p.T833= Synonymous 20/42 - 1
19-17062788-G-T c.2499C>A p.T833= Synonymous 20/42 - 1
19-17062789-G-A c.2498C>T p.T833I Missense 20/42 - 1
19-17062789-G-T c.2498C>A p.T833N Missense 20/42 - 1
19-17062806-G-C c.2481C>G p.V827= Synonymous 20/42 - 1
19-17062814-G-A c.2473C>T p.L825F Missense 20/42 - 2
19-17062815-C-A c.2472G>T p.P824= Synonymous 20/42 - 1
19-17062816-G-A c.2471C>T p.P824L Missense 20/42 - 1
19-17062818-G-A c.2469C>T p.I823= Synonymous 20/42 - 3
19-17062818-G-T c.2469C>A p.I823= Synonymous 20/42 - 1
19-17062819-A-G c.2468T>C p.I823T Missense 20/42 - 1
19-17062820-T-C c.2467A>G p.I823V Missense 20/42 - 1
19-17062821-C-A c.2466G>T p.K822N Missense 20/42 - 2
19-17062821-C-G c.2466G>C p.K822N Missense 20/42 - 1
19-17062832-C-T c.2455G>A p.E819K Missense 20/42 - 2
19-17062835-C-T c.2452G>A p.G818R Missense 20/42 - 1
19-17062836-AC-TT c.2450_2451delinsAA p.R817Q Missense 20/42 - 1
19-17062838-G-A c.2449C>T p.R817C Missense 20/42 - 2
19-17062839-G-A c.2448C>T p.I816= Synonymous 20/42 - 3
19-17062839-G-T c.2448C>A p.I816= Synonymous 20/42 - 2
19-17062841-T-C c.2446A>G p.I816V Missense 20/42 - 1
19-17062847-G-A c.2440C>T p.L814F Missense 20/42 - 2
19-17062847-G-C c.2440C>G p.L814V Missense 20/42 - 1
19-17062849-G-A c.2438C>T p.A813V Missense 20/42 - 4
19-17062850-C-T c.2437G>A p.A813T Missense 20/42 - 3
19-17062854-G-A c.2433C>T p.L811= Synonymous 20/42 - 1
19-17062854-G-C c.2433C>G p.L811= Synonymous 20/42 - 1
19-17062854-G-T c.2433C>A p.L811= Synonymous 20/42 - 1
19-17062855-A-C c.2432T>G p.L811R Missense 20/42 - 1
19-17062856-G-C c.2431C>G p.L811V Missense 20/42 - 1
19-17062866-C-T c.2421G>A p.V807= Synonymous 20/42 - 1
19-17062868-C-T c.2419G>A p.V807M Missense 20/42 - 1
19-17062869-G-A c.2418C>T p.F806= Synonymous 20/42 - 4
19-17062872-G-A c.2415C>T p.F805= Synonymous 20/42 - 1
19-17062877-G-A c.2410C>T p.P804S Missense 20/42 - 2
19-17062881-GA-G c.2405del p.F802Sfs*38 Frameshift 20/42 - 1
19-17062885-G-T c.2402C>A p.T801N Missense 20/42 - 3
19-17062890-C-A c.2397G>T p.L799= Synonymous 20/42 - 1
19-17062890-C-G c.2397G>C p.L799= Synonymous 20/42 - 1
19-17062890-C-T c.2397G>A p.L799= Synonymous 20/42 - 1
19-17062892-G-A c.2395C>T p.L799= Synonymous 20/42 - 1
19-17062893-C-A c.2394G>T p.L798= Synonymous 20/42 - 1
19-17062893-C-G c.2394G>C p.L798= Synonymous 20/42 - 1
19-17062893-C-T c.2394G>A p.L798= Synonymous 20/42 - 1
19-17062895-G-A c.2392C>T p.L798= Synonymous 20/42 - 1
19-17062895-G-T c.2392C>A p.L798M Missense 20/42 - 2
19-17062896-G-C c.2391C>G p.S797= Synonymous 20/42 - 1
19-17062898-A-T c.2389T>A p.S797T Missense 20/42 - 1
19-17062899-G-T c.2388C>A p.P796= Synonymous 20/42 - 2
19-17062905-G-A c.2382C>T p.A794= Synonymous 20/42 - 2
19-17062905-G-C c.2382C>G p.A794= Synonymous 20/42 - 1
19-17062908-G-A c.2379C>T p.I793= Synonymous 20/42 - 2
19-17062917-GC-CT c.2369_2370delinsAG p.G790E Missense 20/42 - 1
19-17062922-G-A c.2365C>T p.Q789* Nonsense 20/42 - 3
19-17062923-A-G c.2364T>C p.S788= Synonymous 20/42 - 1
19-17062929-G-A c.2358C>T p.S786= Synonymous 20/42 - 2
19-17062929-G-C c.2358C>G p.S786= Synonymous 20/42 - 1
19-17062929-G-T c.2358C>A p.S786= Synonymous 20/42 - 1
19-17062936-G-T c.2351C>A p.A784D Missense 20/42 - 1
19-17062942-G-A c.2345C>T p.A782V Missense 20/42 - 1
19-17062950-C-T c.2337G>A p.V779= Synonymous 20/42 - 1
19-17062956-G-C c.2331C>G p.S777R Missense 20/42 - 1
19-17062956-G-T c.2331C>A p.S777R Missense 20/42 - 1
19-17062958-T-G c.2329A>C p.S777R Missense 20/42 - 1
19-17062959-G-A c.2328C>T p.T776= Synonymous 20/42 - 2
19-17062959-G-C c.2328C>G p.T776= Synonymous 20/42 - 1
19-17062959-G-T c.2328C>A p.T776= Synonymous 20/42 - 1
19-17062963-A-C c.2324T>G p.I775S Missense 20/42 - 2
19-17062966-G-A c.2321C>T p.S774F Missense 20/42 - 2
19-17062970-C-T c.2317G>A p.D773N Missense 20/42 - 1
19-17062971-C-G c.2316G>C p.P772= Synonymous 20/42 - 2
19-17062971-C-T c.2316G>A p.P772= Synonymous 20/42 - 1
19-17062973-G-A c.2314C>T p.P772S Missense 20/42 - 1
19-17062980-CAC-GAT c.2305_2307delinsATC p.V769I Missense 20/42 - 1
19-17062988-G-C c.2299C>G p.L767V Missense 20/42 - 1
19-17062992-C-T c.2295G>A p.G765= Synonymous 20/42 - 1
19-17062993-C-G c.2294G>C p.G765A Missense 20/42 - 1
19-17062993-C-T c.2294G>A p.G765E Missense 20/42 - 2
19-17062998-A-C c.2289T>G p.G763= Synonymous 20/42 - 1
19-17062998-A-G c.2289T>C p.G763= Synonymous 20/42 - 1
19-17062998-A-T c.2289T>A p.G763= Synonymous 20/42 - 1
19-17063003-A-C c.2284T>G p.S762A Missense 20/42 - 1
19-17063005-G-A c.2282C>T p.P761L Missense 20/42 - 3
19-17063009-C-T c.2419G>A p.V807M Missense 20/42 - 2
19-17068524-G-A c.2276+139C>T - intron_variant - 19/41 1
19-17068581-T-C c.2276+82A>G - intron_variant - 19/41 1
19-17068621-C-G c.2276+42G>C - intron_variant - 19/41 4
19-17068675-C-T c.2264G>A p.C755Y Missense 19/42 - 1
19-17068679-G-A c.2260C>T p.H754Y Missense 19/42 - 2
19-17068686-C-T c.2253G>A p.W751* Nonsense 19/42 - 4
19-17068687-C-T c.2252G>A p.W751* Nonsense 19/42 - 2
19-17068694-C-A c.2245G>T p.E749* Nonsense 19/42 - 1
19-17068694-C-T c.2245G>A p.E749K Missense 19/42 - 8
19-17068695-G-A c.2244C>T p.P748= Synonymous 19/42 - 1
19-17068695-G-C c.2244C>G p.P748= Synonymous 19/42 - 1
19-17068695-G-T c.2244C>A p.P748= Synonymous 19/42 - 1
19-17068697-G-A c.2242C>T p.P748S Missense 19/42 - 2
19-17068694-CG-C c.2244del p.E749Kfs*21 Frameshift 19/42 - 1
19-17068703-A-G c.2236T>C p.F746L Missense 19/42 - 1
19-17068704-A-C c.2235T>G p.T745= Synonymous 19/42 - 1
19-17068704-A-G c.2235T>C p.T745= Synonymous 19/42 - 3
19-17068704-A-T c.2235T>A p.T745= Synonymous 19/42 - 1
19-17068705-G-A c.2234C>T p.T745I Missense 19/42 - 1
19-17068707-CCT-ATG c.2230_2232delinsCAT p.R744H Missense 19/42 - 1
19-17068707-C-T c.2232G>A p.R744= Synonymous 19/42 - 4
19-17068709-T-G c.2230A>C p.R744= Synonymous 19/42 - 1
19-17068708-C-T c.2231G>A p.R744K Missense 19/42 - 1
19-17068709-T-C c.2230A>G p.R744G Missense 19/42 - 2
19-17068714-C-T c.2225G>A p.R742K Missense 19/42 - 2
19-17068719-C-T c.2220G>A p.E740= Synonymous 19/42 - 1
19-17068721-C-T c.2218G>A p.E740K Missense 19/42 - 1
19-17068917-T-C c.2214-192A>G - intron_variant - 18/41 2
19-17076069-CA-C c.2213+5631del - IntronicDeletion - 18/41 1
19-17078388-T-A c.2213+3313A>T - intron_variant - 18/41 1
19-17078388-T-G c.2213+3313A>C - intron_variant - 18/41 1
19-17079101-C-A c.2213+2600G>T - IntronicSNV - 18/41 1
19-17081547-T-A c.2213+154A>T - IntronicSNV - 18/41 1
19-17081701-CT-TG c.2212_2213delinsCA p.R738Q Missense 18/42 - 1
19-17081701-C-CT c.2212dup p.R738Kfs*23 SpliceDonorInsertion 18/42 - 1
19-17081702-T-A c.2212A>T p.R738* Nonsense 18/42 - 1
19-17081704-G-A c.2210C>T p.P737L Missense 18/42 - 1
19-17081705-G-C c.2209C>G p.P737A Missense 18/42 - 1
19-17081707-G-A c.2207C>T p.P736L missense_variant 18/42 - 4
19-17081707-G-T c.2207C>A p.P736H Missense 18/42 - 12
19-17081702-TG-T c.2211del p.R738Efs*32 Frameshift 18/42 - 3
19-17081702-T-TG c.2211dup p.R738Qfs*23 SpliceDonorInsertion 18/42 - 2
19-17081713-C-T c.2201G>A p.R734K Missense 18/42 - 1
19-17081714-T-G c.2200A>C p.R734= Synonymous 18/42 - 1
19-17081720-G-A c.2194C>T p.P732S Missense 18/42 - 5
19-17081720-G-T c.2194C>A p.P732T Missense 18/42 - 1
19-17081722-G-A c.2192C>T p.A731V Missense 18/42 - 1
19-17081723-C-A c.2191G>T p.A731S Missense 18/42 - 1
19-17081723-C-G c.2191G>C p.A731P Missense 18/42 - 1
19-17081731-A-G c.2183T>C p.V728A Missense 18/42 - 1
19-17081736-G-T c.2178C>A p.S726R Missense 18/42 - 1
19-17081740-C-T c.2174G>A p.G725E Missense 18/42 - 3
19-17081745-G-A c.2169C>T p.H723= Synonymous 18/42 - 1
19-17081748-G-A c.2166C>T p.P722= Synonymous 18/42 - 1
19-17081748-G-C c.2166C>G p.P722= Synonymous 18/42 - 1
19-17081748-G-T c.2166C>A p.P722= Synonymous 18/42 - 1
19-17081750-G-A c.2164C>T p.P722S Missense 18/42 - 1
19-17081753-G-A c.2161C>T p.Q721* Nonsense 18/42 - 1
19-17081754-G-A c.2160C>T p.F720= Synonymous 18/42 - 4
19-17081758-G-T c.2156C>A p.A719D Missense 18/42 - 1
19-17081759-C-T c.2155G>A p.A719T Missense 18/42 - 3
19-17081761-G-T c.2153C>A p.P718H Missense 18/42 - 1
19-17081765-C-A c.2149G>T p.V717F Missense 18/42 - 1
19-17081774-C-T c.2140G>A p.D714N Missense 18/42 - 3
19-17081775-G-A c.2139C>T p.T713= Synonymous 18/42 - 1
19-17081775-G-C c.2139C>G p.T713= Synonymous 18/42 - 1
19-17081775-G-T c.2139C>A p.T713= Synonymous 18/42 - 1
19-17081776-G-C c.2138C>G p.T713S Missense 18/42 - 1
19-17081776-G-T c.2138C>A p.T713N Missense 18/42 - 3
19-17081777-T-A c.2137A>T p.T713S Missense 18/42 - 1
19-17081777-T-G c.2137A>C p.T713P Missense 18/42 - 2
19-17081784-G-A c.2130C>T p.G710= Synonymous 18/42 - 1
19-17081784-G-C c.2130C>G p.G710= Synonymous 18/42 - 1
19-17081784-GCC-CCA c.2128_2130delinsTGG p.G710W Missense 18/42 - 1
19-17081784-G-T c.2130C>A p.G710= Synonymous 18/42 - 1
19-17081788-C-T c.2126G>A p.G709D Missense 18/42 - 1
19-17081789-C-T c.2125G>A p.G709S Missense 18/42 - 3
19-17081790-G-A c.2124C>T p.D708= Synonymous 18/42 - 6
19-17081790-G-C c.2124C>G p.D708E missense_variant 18/42 - 2
19-17081794-T-C c.2120A>G p.Q707R Missense 18/42 - 1
19-17081795-G-A c.2119C>T p.Q707* Nonsense 18/42 - 1
19-17081796-C-T c.2118G>A p.R706= Synonymous 18/42 - 3
19-17081797-C-T c.2117G>A p.R706Q Missense 18/42 - 4
19-17081796-C-A c.2118G>T p.R706= Synonymous 18/42 - 2
19-17081796-C-G c.2118G>C p.R706= Synonymous 18/42 - 2
19-17081798-G-A c.2116C>T p.R706W Missense 18/42 - 3
19-17081798-G-T c.2116C>A p.R706= Synonymous 18/42 - 2
19-17081811-C-T c.2103G>A p.V701= Synonymous 18/42 - 2
19-17081813-C-A c.2101G>T p.V701L missense_variant 18/42 - 1
19-17081813-C-G c.2101G>C p.V701L missense_variant 18/42 - 1
19-17081814-TCG-ACA c.2098_2100delinsTGT p.R700C Missense 18/42 - 1
19-17081817-G-T c.2097C>A p.D699E Missense 18/42 - 2
19-17081821-G-A c.2093C>T p.T698I Missense 18/42 - 3
19-17081823-C-T c.2091G>A p.M697I missense_variant 18/42 - 1
19-17081827-A-G c.2087T>C p.V696A Missense 18/42 - 1
19-17081837-C-T c.2077G>A p.G693R Missense 18/42 - 1
19-17081839-G-A c.2075C>T p.T692M Missense 18/42 - 5
19-17081840-T-C c.2074A>G p.T692A Missense 18/42 - 1
19-17081843-C-A c.2071G>T p.E691* Nonsense 18/42 - 1
19-17085865-A-C c.2070+42T>G - intron_variant - 17/41 2
19-17085865-A-T c.2070+42T>A - intron_variant - 17/41 2
19-17085906-C-A c.2070+1G>T - splice_donor_variant - 17/41 1
19-17085906-C-T c.2070+1G>A - splice_donor_variant - 17/41 1
19-17085907-G-A c.2070C>T p.T690= Synonymous 17/42 - 1
19-17085914-G-A c.2063C>T p.A688V Missense 17/42 - 2
19-17085927-C-T c.2050G>A p.D684N Missense 17/42 - 4
19-17085934-G-A c.2043C>T p.I681= Synonymous 17/42 - 2
19-17085936-T-C c.2041A>G p.I681V Missense 17/42 - 1
19-17085944-G-A c.2033C>T p.P678L Missense 17/42 - 2
19-17085945-G-A c.2032C>T p.P678S Missense 17/42 - 1
19-17085950-G-A c.2027C>T p.P676L Missense 17/42 - 4
19-17085951-G-A c.2026C>T p.P676S Missense 17/42 - 3
19-17085952-G-A c.2025C>T p.F675= Synonymous 17/42 - 3
19-17085961-G-A c.2016C>T p.S672= Synonymous 17/42 - 6
19-17085961-G-C c.2016C>G p.S672= Synonymous 17/42 - 1
19-17085961-G-T c.2016C>A p.S672= Synonymous 17/42 - 1
19-17085964-GCG-CCA c.2011_2013delinsTGG p.R671W Missense 17/42 - 1
19-17085965-C-A c.2012G>T p.R671L Missense 17/42 - 4
19-17085965-C-T c.2012G>A p.R671H Missense 17/42 - 3
19-17085966-G-A c.2011C>T p.R671C Missense 17/42 - 4
19-17085968-C-T c.2009G>A p.R670Q Missense 17/42 - 1
19-17085969-G-A c.2008C>T p.R670W Missense 17/42 - 3
19-17085970-G-A c.2007C>T p.R669= Synonymous 17/42 - 1
19-17085970-G-C c.2007C>G p.R669= Synonymous 17/42 - 1
19-17085970-G-T c.2007C>A p.R669= Synonymous 17/42 - 1
19-17085971-C-T c.2006G>A p.R669H Missense 17/42 - 2
19-17085972-G-A c.2005C>T p.R669C Missense 17/42 - 1
19-17085974-C-T c.2003G>A p.R668Q Missense 17/42 - 7
19-17085975-G-A c.2002C>T p.R668* Nonsense 17/42 - 3
19-17085976-T-C c.2001A>G p.Q667= Synonymous 17/42 - 1
19-17085979-T-A c.1998A>T p.A666= Synonymous 17/42 - 1
19-17085979-T-C c.1998A>G p.A666= Synonymous 17/42 - 1
19-17085979-T-G c.1998A>C p.A666= Synonymous 17/42 - 1
19-17085981-C-A c.1996G>T p.A666S Missense 17/42 - 1
19-17085981-C-T c.1996G>A p.A666T Missense 17/42 - 1
19-17085982-C-A c.1995G>T p.T665= Synonymous 17/42 - 1
19-17085982-C-G c.1995G>C p.T665= Synonymous 17/42 - 1
19-17085982-C-T c.1995G>A p.T665= Synonymous 17/42 - 3
19-17085983-G-A c.1994C>T p.T665M Missense 17/42 - 1
19-17085992-G-A c.1985C>T p.A662V Missense 17/42 - 1
19-17085993-C-T c.1984G>A p.A662T Missense 17/42 - 1
19-17085994-C-T c.1983G>A p.W661* Nonsense 17/42 - 2
19-17085995-C-T c.1982G>A p.W661* Nonsense 17/42 - 3
19-17085998-CA-C c.1978del p.W660Gfs*5 Frameshift 17/42 - 1
19-17086004-G-A c.1973C>T p.P658L Missense 17/42 - 2
19-17086005-G-A c.1972C>T p.P658S Missense 17/42 - 3
19-17086007-C-G c.1970G>C p.G657A Missense 17/42 - 1
19-17086010-T-A c.1967A>T p.D656V Missense 17/42 - 1
19-17086014-C-T c.1963G>A p.E655K Missense 17/42 - 3
19-17086015-C-T c.1962G>A p.R654= Synonymous 17/42 - 1
19-17086017-T-G c.1960A>C p.R654= Synonymous 17/42 - 1
19-17086016-CT-TG c.1960_1961delinsCA p.R654Q Missense 17/42 - 1
19-17086017-T-A c.1960A>T p.R654W Missense 17/42 - 1
19-17086023-C-T c.1954G>A p.V652M Missense 17/42 - 4
19-17086031-G-A c.1946C>T p.S649F Missense 17/42 - 2
19-17086035-C-G c.1942G>C p.D648H Missense 17/42 - 2
19-17086047-A-C c.1930T>G p.Y644D Missense 17/42 - 1
19-17086050-C-A c.1927G>T p.D643Y Missense 17/42 - 2
19-17086050-C-T c.1927G>A p.D643N Missense 17/42 - 1
19-17086051-T-C c.1926A>G p.E642= Synonymous 17/42 - 1
19-17086053-C-T c.1924G>A p.E642K Missense 17/42 - 2
19-17086059-C-G c.1918G>C p.E640Q Missense 17/42 - 1
19-17086060-C-T c.1917G>A p.Q639= Synonymous 17/42 - 2
19-17086062-G-C c.1915C>G p.Q639E Missense 17/42 - 1
19-17086064-A-T c.1913T>A p.F638Y Missense 17/42 - 1
19-17086066-AAC-CAT c.1909_1911delinsATG p.V637M Missense 17/42 - 1
19-17086814-G-A c.1906C>T p.Q636* Nonsense 16/42 - 4
19-17086815-G-A c.1905C>T p.A635= Synonymous 16/42 - 1
19-17086817-C-A c.1903G>T p.A635S Missense 16/42 - 1
19-17086824-C-T c.1896G>A p.L632= Synonymous 16/42 - 1
19-17086828-C-A c.1892G>T p.R631L Missense 16/42 - 1
19-17086827-C-A c.1893G>T p.R631= Synonymous 16/42 - 1
19-17086827-C-G c.1893G>C p.R631= Synonymous 16/42 - 1
19-17086827-C-T c.1893G>A p.R631= Synonymous 16/42 - 1
19-17086829-G-A c.1891C>T p.R631W Missense 16/42 - 4
19-17086829-G-T c.1891C>A p.R631= Synonymous 16/42 - 1
19-17086834-C-A c.1886G>T p.G629V Missense 16/42 - 1
19-17086840-C-T c.1880G>A p.R627K Missense 16/42 - 2
19-17086841-T-A c.1879A>T p.R627W Missense 16/42 - 1
19-17086847-G-A c.1873C>T p.L625= Synonymous 16/42 - 1
19-17086848-G-A c.1872C>T p.Y624= Synonymous 16/42 - 1
19-17086850-A-G c.1870T>C p.Y624H Missense 16/42 - 1
19-17086855-C-T c.1865G>A p.S622N Missense 16/42 - 1
19-17086862-C-G c.1858G>C p.D620H Missense 16/42 - 2
19-17086868-C-A c.1852G>T p.A618S Missense 16/42 - 1
19-17086868-C-T c.1852G>A p.A618T Missense 16/42 - 3
19-17086869-G-A c.1851C>T p.A617= Synonymous 16/42 - 4
19-17086869-G-C c.1851C>G p.A617= Synonymous 16/42 - 2
19-17086869-G-T c.1851C>A p.A617= Synonymous 16/42 - 2
19-17086870-G-A c.1850C>T p.A617V Missense 16/42 - 1
19-17086871-C-G c.1849G>C p.A617P Missense 16/42 - 1
19-17086871-C-T c.1849G>A p.A617T Missense 16/42 - 3
19-17086872-G-A c.1848C>T p.V616= Synonymous 16/42 - 5
19-17086872-G-C c.1848C>G p.V616= Synonymous 16/42 - 4
19-17086872-G-T c.1848C>A p.V616= Synonymous 16/42 - 4
19-17086874-C-T c.1846G>A p.V616I Missense 16/42 - 2
19-17086881-A-G c.1839T>C p.C613= Synonymous 16/42 - 1
19-17086882-C-G c.1838G>C p.C613S Missense 16/42 - 1
19-17086883-A-T c.1837T>A p.C613S Missense 16/42 - 1
19-17086886-T-G c.1834A>C p.S612R Missense 16/42 - 4
19-17086887-G-A c.1833C>T p.G611= Synonymous 16/42 - 1
19-17086890-C-A c.1830G>T p.R610S Missense 16/42 - 1
19-17086890-C-G c.1830G>C p.R610S Missense 16/42 - 1
19-17086891-CT-GG c.1828_1829delinsCC p.R610P Missense 16/42 - 1
19-17086896-A-C c.1824T>G p.A608= Synonymous 16/42 - 1
19-17086896-A-G c.1824T>C p.A608= Synonymous 16/42 - 1
19-17086896-A-T c.1824T>A p.A608= Synonymous 16/42 - 1
19-17086897-G-A c.1823C>T p.A608V Missense 16/42 - 1
19-17086902-G-A c.1818C>T p.I606= Synonymous 16/42 - 1
19-17086906-C-T c.1814G>A p.R605Q Missense 16/42 - 1
19-17086907-G-A c.1813C>T p.R605W Missense 16/42 - 1
19-17086909-A-C c.1811T>G p.L604R Missense 16/42 - 1
19-17086913-C-T c.1807G>A p.D603N Missense 16/42 - 3
19-17086918-A-G c.1802T>C p.V601A Missense 16/42 - 1
19-17086920-C-A c.1800G>T p.E600D Missense 16/42 - 1
19-17086920-C-G c.1800G>C p.E600D Missense 16/42 - 2
19-17086925-C-A c.1795G>T p.G599W Missense 16/42 - 1
19-17086927-G-A c.1793C>T p.P598L Missense 16/42 - 2
19-17086927-GG-AA c.1792_1793delinsTT p.P598F Missense 16/42 - 1
19-17086928-G-A c.1792C>T p.P598S Missense 16/42 - 2
19-17086930-T-C c.1790A>G p.Q597R Missense 16/42 - 1
19-17086940-T-G c.1780A>C p.N594H Missense 16/42 - 2
19-17086944-T-A c.1776A>T p.S592= Synonymous 16/42 - 1
19-17086944-T-C c.1776A>G p.S592= Synonymous 16/42 - 1
19-17086944-T-G c.1776A>C p.S592= Synonymous 16/42 - 1
19-17086946-A-G c.1774T>C p.S592P Missense 16/42 - 1
19-17086951-G-A c.1769C>T p.T590M Missense 16/42 - 1
19-17086956-T-A c.1764A>T p.S588= Synonymous 16/42 - 2
19-17086956-T-C c.1764A>G p.S588= Synonymous 16/42 - 3
19-17086956-T-G c.1764A>C p.S588= Synonymous 16/42 - 2
19-17086957-G-A c.1763C>T p.S588L Missense 16/42 - 4
19-17086959-AAC-CAT c.1759_1761delinsATG p.V587M Missense 16/42 - 1
19-17087077-A-G c.1759-116T>C - intron_variant - 15/41 1
19-17087954-G-C c.1758+224C>G - intron_variant - 15/41 1
19-17087980-C-T c.1758+198G>A - IntronicSNV - 15/41 1
19-17088121-T-C c.1758+57A>G - IntronicSNV - 15/41 2
19-17088171-G-A c.1758+7C>T - IntronicSNV - 15/41 1
19-17088178-C-T c.1758G>A p.Q586= Synonymous 15/42 - 1
19-17088181-G-A c.1755C>T p.N585= Synonymous 15/42 - 1
19-17088186-C-T c.1750G>A p.E584K Missense 15/42 - 5
19-17088187-G-A c.1749C>T p.F583= Synonymous 15/42 - 7
19-17088188-A-C c.1748T>G p.F583C Missense 15/42 - 1
19-17088189-A-T c.1747T>A p.F583I Missense 15/42 - 1
19-17088186-CGAA-C c.1747_1749del p.F583del InFrameDeletion 15/42 - 1
19-17088190-G-C c.1746C>G p.F582L Missense 15/42 - 1
19-17088190-G-T c.1746C>A p.F582L Missense 15/42 - 1
19-17088192-A-G c.1744T>C p.F582L Missense 15/42 - 1
19-17088194-G-A c.1742C>T p.T581I Missense 15/42 - 1
19-17088196-C-A c.1740G>T p.E580D Missense 15/42 - 1
19-17088196-C-G c.1740G>C p.E580D Missense 15/42 - 4
19-17088201-C-A c.1735G>T p.V579F Missense 15/42 - 1
19-17088208-C-A c.1728G>T p.Q576H Missense 15/42 - 1
19-17088208-C-G c.1728G>C p.Q576H Missense 15/42 - 1
19-17088210-G-A c.1726C>T p.Q576* Nonsense 15/42 - 2
19-17088213-G-C c.1723C>G p.L575V Missense 15/42 - 1
19-17088215-C-T c.1721G>A p.S574N Missense 15/42 - 2
19-17088218-T-A c.1718A>T p.D573V Missense 15/42 - 1
19-17088219-C-G c.1717G>C p.D573H Missense 15/42 - 1
19-17088219-C-T c.1717G>A p.D573N Missense 15/42 - 6
19-17088220-G-A c.1716C>T p.A572A synonymous_variant 15/42 - 2
19-17088220-G-C c.1716C>G p.A572= Synonymous 15/42 - 1
19-17088220-G-T c.1716C>A p.A572= Synonymous 15/42 - 1
19-17088221-G-A c.1715C>T p.A572V Missense 15/42 - 1
19-17088227-C-A c.1709G>T p.G570V Missense 15/42 - 2
19-17088233-C-G c.1703G>C p.G568A Missense 15/42 - 1
19-17088233-C-T c.1703G>A p.G568E Missense 15/42 - 4
19-17088234-C-G c.1702G>C p.G568R Missense 15/42 - 2
19-17088234-C-T c.1702G>A p.G568R Missense 15/42 - 1
19-17088237-T-C c.1699A>G p.N567D Missense 15/42 - 1
19-17088238-C-A c.1698G>T p.E566D Missense 15/42 - 1
19-17088240-C-T c.1696G>A p.E566K Missense 15/42 - 7
19-17088241-C-A c.1695G>T p.R565S Missense 15/42 - 1
19-17088241-C-G c.1695G>C p.R565S Missense 15/42 - 1
19-17088242-C-A c.1694G>T p.R565M Missense 15/42 - 1
19-17088243-T-C c.1693A>G p.R565G Missense 15/42 - 2
19-17088246-C-T c.1690G>A p.V564I Missense 15/42 - 5
19-17088253-G-C c.1683C>G p.V561= Synonymous 15/42 - 3
19-17088262-GCG-CCA c.1672_1674delinsTGG p.R558W Missense 15/42 - 1
19-17088263-C-A c.1673G>T p.R558L Missense 15/42 - 1
19-17088263-C-T c.1673G>A p.R558H Missense 15/42 - 4
19-17088266-C-G c.1670G>C p.G557A Missense 15/42 - 1
19-17088266-C-T c.1670G>A p.G557D Missense 15/42 - 1
19-17088268-A-C c.1668T>G p.L556= Synonymous 15/42 - 1
19-17088268-A-G c.1668T>C p.L556= Synonymous 15/42 - 1
19-17088268-A-T c.1668T>A p.L556= Synonymous 15/42 - 1
19-17088270-G-A c.1666C>T p.L556F Missense 15/42 - 2
19-17088271-G-A c.1665C>T p.P555= Synonymous 15/42 - 1
19-17088271-G-C c.1665C>G p.P555= Synonymous 15/42 - 1
19-17088271-G-T c.1665C>A p.P555= Synonymous 15/42 - 1
19-17088272-G-A c.1664C>T p.P555L Missense 15/42 - 4
19-17088273-G-T c.1663C>A p.P555T Missense 15/42 - 2
19-17088274-G-A c.1662C>T p.V554= Synonymous 15/42 - 2
19-17088276-C-G c.1660G>C p.V554L Missense 15/42 - 3
19-17088284-G-A c.1652C>T p.P551L Missense 15/42 - 2
19-17088284-G-T c.1652C>A p.P551H Missense 15/42 - 1
19-17088285-G-A c.1651C>T p.P551S Missense 15/42 - 2
19-17088289-CAC-GAT c.1645_1647delinsATC p.V549I Missense 15/42 - 1
19-17088291-C-T c.1645G>A p.V549M Missense 15/42 - 3
19-17088294-C-T c.1642G>A p.A548T Missense 15/42 - 6
19-17088297-G-A c.1639C>T p.L547= Synonymous 15/42 - 3
19-17088298-A-G c.1638T>C p.H546= Synonymous 15/42 - 1
19-17088299-T-C c.1637A>G p.H546R Missense 15/42 - 18
19-17088300-G-A c.1636C>T p.H546Y Missense 15/42 - 5
19-17088303-G-A c.1633C>T p.L545F Missense 15/42 - 4
19-17088306-A-C c.1630T>G p.S544A Missense 15/42 - 3
19-17088310-C-A c.1626G>T p.V542= Synonymous 15/42 - 2
19-17088310-C-G c.1626G>C p.V542= Synonymous 15/42 - 2
19-17088310-C-T c.1626G>A p.V542= Synonymous 15/42 - 2
19-17088311-A-C c.1625T>G p.V542G Missense 15/42 - 1
19-17088312-C-A c.1624G>T p.V542L Missense 15/42 - 2
19-17088312-C-G c.1624G>C p.V542L Missense 15/42 - 2
19-17088318-C-T c.1618G>A p.V540M Missense 15/42 - 5
19-17088319-G-A c.1617C>T p.D539= Synonymous 15/42 - 1
19-17088319-G-C c.1617C>G p.D539E Missense 15/42 - 11
19-17088319-G-T c.1617C>A p.D539E Missense 15/42 - 14
19-17088320-T-C c.1616A>G p.D539G Missense 15/42 - 1
19-17088322-G-A c.1614C>T p.V538= Synonymous 15/42 - 2
19-17088322-G-C c.1614C>G p.V538= Synonymous 15/42 - 2
19-17088322-G-T c.1614C>A p.V538= Synonymous 15/42 - 1
19-17088324-C-A c.1612G>T p.V538F Missense 15/42 - 1
19-17088324-C-G c.1612G>C p.V538L Missense 15/42 - 2
19-17088324-C-T c.1612G>A p.V538I Missense 15/42 - 1
19-17088325-C-T c.1611G>A p.E537= Synonymous 15/42 - 2
19-17088327-C-T c.1609G>A p.E537K Missense 15/42 - 3
19-17088335-G-T c.1601C>A p.P534Q Missense 15/42 - 1
19-17088337-G-A c.1599C>T p.A533= Synonymous 15/42 - 1
19-17088346-G-C c.1590C>G p.P530= Synonymous 15/42 - 1
19-17088348-GCT-G c.1586_1587del - SpliceAcceptorDeletion - 14/41 1
19-17088458-G-A c.1586-108C>T - intron_variant - 14/41 3
19-17088458-G-C c.1586-108C>G - intron_variant - 14/41 3
19-17088458-G-T c.1586-108C>A - intron_variant - 14/41 3
19-17090106-C-A c.1585+1201G>T - intron_variant - 14/41 1
19-17090180-C-G c.1585+1127G>C - intron_variant - 14/41 1
19-17090180-C-T c.1585+1127G>A - intron_variant - 14/41 1
19-17091141-G-T c.1585+166C>A - IntronicSNV - 14/41 2
19-17091307-C-A c.1585G>T p.E529* Nonsense 14/42 - 1
19-17091315-GA-AG c.1576_1577delinsCT p.S526L Missense 14/42 - 1
19-17091315-G-T c.1577C>A p.S526Y Missense 14/42 - 1
19-17091318-A-G c.1574T>C p.L525P Missense 14/42 - 1
19-17091323-T-A c.1569A>T p.T523= Synonymous 14/42 - 1
19-17091325-T-A c.1567A>T p.T523S Missense 14/42 - 2
19-17091329-ACG-TCA c.1561_1563delinsTGA p.R521* Nonsense 14/42 - 1
19-17091330-C-T c.1562G>A p.R521H Missense 14/42 - 2
19-17091331-G-A c.1561C>T p.R521C Missense 14/42 - 16
19-17091334-T-C c.1558A>G p.I520V Missense 14/42 - 1
19-17091335-C-A c.1557G>T p.P519= Synonymous 14/42 - 4
19-17091335-C-G c.1557G>C p.P519= Synonymous 14/42 - 2
19-17091335-C-T c.1557G>A p.P519= Synonymous 14/42 - 5
19-17091336-G-A c.1556C>T p.P519L Missense 14/42 - 1
19-17091341-C-A c.1551G>T p.E517D Missense 14/42 - 3
19-17091341-C-G c.1551G>C p.E517D Missense 14/42 - 2
19-17091347-G-A c.1545C>T p.A515= Synonymous 14/42 - 1
19-17091347-G-T c.1545C>A p.A515= Synonymous 14/42 - 1
19-17091348-G-C c.1544C>G p.A515G Missense 14/42 - 1
19-17091352-G-A c.1540C>T p.P514S Missense 14/42 - 1
19-17091354-G-A c.1538C>T p.A513V Missense 14/42 - 1
19-17091354-G-T c.1538C>A p.A513D Missense 14/42 - 1
19-17091356-C-A c.1536G>T p.A512= Synonymous 14/42 - 1
19-17091356-C-G c.1536G>C p.A512= Synonymous 14/42 - 1
19-17091356-C-T c.1536G>A p.A512= Synonymous 14/42 - 1
19-17091357-G-A c.1535C>T p.A512V Missense 14/42 - 2
19-17091361-G-A c.1531C>T p.R511W Missense 14/42 - 1
19-17091368-TC-AT c.1523_1524delinsAT p.R508H Missense 14/42 - 1
19-17091368-T-G c.1524A>C p.R508= Synonymous 14/42 - 15
19-17091369-C-T c.1523G>A p.R508Q Missense 14/42 - 3
19-17091368-T-A c.1524A>T p.R508= Synonymous 14/42 - 8
19-17091368-T-C c.1524A>G p.R508= Synonymous 14/42 - 8
19-17091370-G-A c.1522C>T p.R508* Nonsense 14/42 - 1
19-17091373-G-A c.1519C>T p.Q507* Nonsense 14/42 - 1
19-17091374-C-G c.1518G>C p.Q506H missense_variant 14/42 - 1
19-17091374-C-T c.1518G>A p.Q506= Synonymous 14/42 - 1
19-17091378-G-C c.1514C>G p.T505S Missense 14/42 - 1
19-17091379-T-A c.1513A>T p.T505S Missense 14/42 - 1
19-17091381-G-A c.1511C>T p.T504I Missense 14/42 - 5
19-17091381-G-C c.1511C>G p.T504S missense_variant 14/42 - 1
19-17091381-G-T c.1511C>A p.T504N missense_variant 14/42 - 1
19-17091386-G-A c.1506C>T p.A502= Synonymous 14/42 - 1
19-17091386-G-C c.1506C>G p.A502= Synonymous 14/42 - 1
19-17091386-G-T c.1506C>A p.A502= Synonymous 14/42 - 2
19-17091389-A-G c.1503T>C p.P501= Synonymous 14/42 - 1
19-17091392-C-T c.1500G>A p.Q500= Synonymous 14/42 - 2
19-17091396-T-C c.1637A>G p.H546R Missense 15/42 - 6
19-17091396-T-G c.1637A>C p.H546P Missense 15/42 - 6
19-17091397-G-A c.1495C>T p.Q499* Nonsense 14/42 - 2
19-17091399-C-G c.1493G>C p.G498A Missense 14/42 - 1
19-17091401-C-T c.1491G>A p.S497= Synonymous 14/42 - 1
19-17091404-T-C c.1488A>G p.L496= Synonymous 14/42 - 1
19-17091406-G-A c.1486C>T p.L496= Synonymous 14/42 - 1
19-17091407-C-A c.1485G>T p.V495= Synonymous 14/42 - 1
19-17091409-C-A c.1483G>T p.V495L Missense 14/42 - 1
19-17091409-C-G c.1483G>C p.V495L Missense 14/42 - 1
19-17091409-C-T c.1483G>A p.V495M Missense 14/42 - 1
19-17091416-G-A c.1476C>T p.G492= Synonymous 14/42 - 7
19-17091416-G-T c.1476C>A p.G492= Synonymous 14/42 - 10
19-17091417-C-T c.1475G>A p.G492D Missense 14/42 - 2
19-17091418-C-T c.1474G>A p.G492S Missense 14/42 - 1
19-17091419-C-G c.1473G>C p.R491= Synonymous 14/42 - 1
19-17091429-A-C c.1463T>G p.V488G Missense 14/42 - 1
19-17091434-G-A c.1458C>T p.Y486= Synonymous 14/42 - 2
19-17091436-A-C c.1456T>G p.Y486D Missense 14/42 - 1
19-17091440-C-A c.1452G>T p.L484= Synonymous 14/42 - 1
19-17091440-C-G c.1452G>C p.L484= Synonymous 14/42 - 1
19-17091440-C-T c.1452G>A p.L484= Synonymous 14/42 - 1
19-17091442-G-A c.1450C>T p.L484= Synonymous 14/42 - 4
19-17091445-T-C c.1447A>G p.T483A Missense 14/42 - 1
19-17091446-A-G c.1446T>C p.F482= Synonymous 14/42 - 1
19-17091450-T-A c.1442A>T p.N481I Missense 14/42 - 2
19-17091453-C-T c.1439G>A p.C480Y Missense 14/42 - 2
19-17091456-G-A c.1436C>T p.P479L Missense 14/42 - 5
19-17091457-G-C c.1435C>G p.P479A Missense 14/42 - 1
19-17091459-C-T c.1433G>A p.C478Y Missense 14/42 - 1
19-17091463-T-C c.1429A>G p.T477A Missense 14/42 - 2
19-17091465-G-T c.1427C>A p.S476Y Missense 14/42 - 6
19-17091466-A-G c.1426T>C p.S476P Missense 14/42 - 1
19-17091472-C-A c.1420G>T p.V474L Missense 14/42 - 1
19-17091472-C-T c.1420G>A p.V474M Missense 14/42 - 2
19-17091474-G-A c.1418C>T p.S473F Missense 14/42 - 2
19-17091474-G-T c.1418C>A p.S473Y Missense 14/42 - 3
19-17091475-A-G c.1417T>C p.S473P Missense 14/42 - 2
19-17091480-T-A c.1412A>T p.Y471F Missense 14/42 - 1
19-17091480-T-C c.1412A>G p.Y471C Missense 14/42 - 1
19-17091483-G-A c.1409C>T p.A470V Missense 14/42 - 2
19-17091485-T-A c.1407A>T p.E469D Missense 14/42 - 1
19-17091485-T-C c.1407A>G p.E469= Synonymous 14/42 - 1
19-17091485-T-G c.1407A>C p.E469D Missense 14/42 - 4
19-17091487-C-T c.1405G>A p.E469K Missense 14/42 - 1
19-17091488-T-C c.1404A>G p.E468= Synonymous 14/42 - 1
19-17091490-C-T c.1402G>A p.E468K Missense 14/42 - 5
19-17091491-CC-GT c.1400_1401delinsAC p.G467D Missense 14/42 - 1
19-17091492-C-T c.1400G>A p.G467E Missense 14/42 - 1
19-17091493-C-A c.1399G>T p.G467W Missense 14/42 - 1
19-17091495-A-C c.1397T>G p.V466G Missense 14/42 - 1
19-17091496-C-A c.1396G>T p.V466F Missense 14/42 - 4
19-17091496-C-G c.1396G>C p.V466L Missense 14/42 - 1
19-17091509-C-T c.1396-13G>A - splice_polypyrimidine_tract_variant,intron_variant - 13/41 1
19-17091533-C-T c.1396-37G>A - intron_variant - 13/41 8
19-17091666-A-G c.1396-170T>C - intron_variant - 13/41 1
19-17099638-T-C c.1395+815A>G - intron_variant - 13/41 1
19-17099980-G-A c.1395+473C>T - intron_variant - 13/41 1
19-17100438-T-A c.1395+15A>T - IntronicSNV - 13/41 7
19-17100438-T-C c.1395+15A>G - intron_variant - 13/41 5
19-17100452-C-T c.1395+1G>A - IntronicSNV - 13/41 1
19-17100458-G-GT c.1389dup p.L464Tfs*64 Frameshift 13/42 - 1
19-17100460-G-A c.1388C>T p.P463L Missense 13/42 - 1
19-17100465-G-A c.1383C>T p.S461= Synonymous 13/42 - 3
19-17100466-G-A c.1382C>T p.S461F Missense 13/42 - 1
19-17100473-G-A c.1375C>T p.P459S Missense 13/42 - 1
19-17100474-C-A c.1374G>T p.Q458H Missense 13/42 - 1
19-17100474-C-T c.1374G>A p.Q458= Synonymous 13/42 - 1
19-17100480-C-T c.1368G>A p.Q456= Synonymous 13/42 - 1
19-17100494-G-A c.1354C>T p.Q452* Nonsense 13/42 - 1
19-17100498-G-A c.1350C>T p.P450= Synonymous 13/42 - 1
19-17100501-G-A c.1347C>T p.S449= Synonymous 13/42 - 1
19-17100501-G-C c.1347C>G p.S449= Synonymous 13/42 - 1
19-17100501-G-T c.1347C>A p.S449= Synonymous 13/42 - 1
19-17100497-TG-T c.1350del p.S451Afs*24 Frameshift 13/42 - 1
19-17100502-G-A c.1346C>T p.S449F Missense 13/42 - 1
19-17100503-A-G c.1345T>C p.S449P Missense 13/42 - 2
19-17100511-CT-AA c.1336_1337delinsTT p.S446F Missense 13/42 - 1
19-17100514-C-T c.1475G>A p.G492D Missense 14/42 - 1
19-17100518-G-A c.1330C>T p.L444F Missense 13/42 - 6
19-17100519-G-A c.1329C>T p.S443= Synonymous 13/42 - 3
19-17100520-G-A c.1328C>T p.S443F Missense 13/42 - 3
19-17100520-GA-AT c.1327_1328delinsAT p.S443I Missense 13/42 - 1
19-17100520-G-C c.1328C>G p.S443C Missense 13/42 - 1
19-17100522-G-A c.1326C>T p.L442= Synonymous 13/42 - 1
19-17100522-G-C c.1326C>G p.L442= Synonymous 13/42 - 1
19-17100522-G-T c.1326C>A p.L442= Synonymous 13/42 - 1
19-17100527-A-G c.1321T>C p.Y441H Missense 13/42 - 3
19-17100532-G-A c.1316C>T p.P439L Missense 13/42 - 3
19-17100533-G-A c.1315C>T p.P439S Missense 13/42 - 1
19-17100533-G-C c.1315C>G p.P439A Missense 13/42 - 1
19-17100537-G-C c.1311C>G p.Y437* Nonsense 13/42 - 1
19-17100537-G-T c.1311C>A p.Y437* Nonsense 13/42 - 1
19-17100542-G-C c.1306C>G p.Q436E Missense 13/42 - 1
19-17100545-C-T c.1303G>A p.A435T Missense 13/42 - 1
19-17100546-C-G c.1302G>C p.G434= Synonymous 13/42 - 1
19-17100547-C-T c.1301G>A p.G434E Missense 13/42 - 4
19-17100548-C-G c.1300G>C p.G434R Missense 13/42 - 1
19-17100548-C-T c.1300G>A p.G434R Missense 13/42 - 1
19-17100550-A-T c.1298T>A p.V433E Missense 13/42 - 7
19-17100551-C-T c.1297G>A p.V433M Missense 13/42 - 1
19-17100552-A-C c.1296T>G p.P432= Synonymous 13/42 - 1
19-17100552-A-G c.1296T>C p.P432= Synonymous 13/42 - 16
19-17100552-A-T c.1296T>A p.P432= Synonymous 13/42 - 1
19-17100553-G-A c.1295C>T p.P432L Missense 13/42 - 1
19-17100558-C-T c.1290G>A p.G430= Synonymous 13/42 - 1
19-17100559-C-T c.1289G>A p.G430E Missense 13/42 - 2
19-17100564-C-T c.1284G>A p.L428= Synonymous 13/42 - 3
19-17100567-T-A c.1281A>T p.A427= Synonymous 13/42 - 1
19-17100567-T-C c.1281A>G p.A427= Synonymous 13/42 - 2
19-17100567-T-G c.1281A>C p.A427= Synonymous 13/42 - 1
19-17100576-CCTT-C c.1270_1272del p.K424del InFrameDeletion 13/42 - 1
19-17100576-C-T c.1272G>A p.K424= Synonymous 13/42 - 3
19-17100579-G-T c.1269C>A p.T423= Synonymous 13/42 - 2
19-17100666-17100667---A c.1267-86dup - intron_variant - 12/41 1
19-17100731-A-G c.1267-150T>C - intron_variant - 12/41 2
19-17102491-C-A c.1266+1735G>T - intron_variant - 12/41 1
19-17102530-TG-T c.1266+1695del - IntronicDeletion - 12/41 1
19-17104162-C-T c.1266+64G>A - IntronicSNV - 12/41 2
19-17104231-G-T c.1261C>A p.L421M Missense 12/42 - 5
19-17104237-C-G c.1255G>C p.V419L Missense 12/42 - 1
19-17104237-C-T c.1255G>A p.V419M Missense 12/42 - 3
19-17104238-G-A c.1254C>T p.H418= Synonymous 12/42 - 1
19-17104239-T-C c.1253A>G p.H418R Missense 12/42 - 6
19-17104242-TG-T c.1249del p.Q417Sfs*9 Frameshift 12/42 - 1
19-17104246-C-A c.1246G>T p.A416S Missense 12/42 - 1
19-17104250-C-A c.1242G>T p.T414= Synonymous 12/42 - 1
19-17104250-C-G c.1242G>C p.T414= Synonymous 12/42 - 1
19-17104250-C-T c.1242G>A p.T414= Synonymous 12/42 - 1
19-17104251-G-A c.1241C>T p.T414M Missense 12/42 - 3
19-17104251-G-C c.1241C>G p.T414R Missense 12/42 - 1
19-17104254-G-A c.1238C>T p.P413L Missense 12/42 - 2
19-17104255-G-A c.1237C>T p.P413S Missense 12/42 - 2
19-17104256-G-A c.1236C>T p.I412= Synonymous 12/42 - 1
19-17104256-G-T c.1236C>A p.I412= Synonymous 12/42 - 2
19-17104260-G-A c.1232C>T p.S411F Missense 12/42 - 1
19-17104260-GA-TT c.1231_1232delinsAA p.S411N Missense 12/42 - 1
19-17104264-G-A c.1228C>T p.P410S Missense 12/42 - 4
19-17104266-A-G c.1226T>C p.I409T Missense 12/42 - 1
19-17104274-C-A c.1218G>T p.G406= Synonymous 12/42 - 3
19-17104274-C-G c.1218G>C p.G406= Synonymous 12/42 - 2
19-17104274-C-T c.1218G>A p.G406= Synonymous 12/42 - 4
19-17104275-C-A c.1217G>T p.G406V Missense 12/42 - 1
19-17104281-A-C c.1211T>G p.L404R Missense 12/42 - 1
19-17104284-C-A c.1208G>T p.G403V Missense 12/42 - 1
19-17104284-C-T c.1208G>A p.G403E Missense 12/42 - 2
19-17104287-C-A c.1205G>T p.R402L Missense 12/42 - 1
19-17104287-C-T c.1205G>A p.R402H Missense 12/42 - 1
19-17104288-G-C c.1204C>G p.R402G Missense 12/42 - 6
19-17104294-A-G c.1198T>C p.S400P Missense 12/42 - 2
19-17104295-CAC-GAT c.1195_1197delinsATC p.V399I Missense 12/42 - 1
19-17104295-C-T c.1197G>A p.V399= Synonymous 12/42 - 1
19-17104297-C-T c.1195G>A p.V399M Missense 12/42 - 1
19-17104298-AAC-CAT c.1192_1194delinsATG p.V398M Missense 12/42 - 1
19-17104299-A-C c.1193T>G p.V398G Missense 12/42 - 1
19-17104300-C-A c.1192G>T p.V398F Missense 12/42 - 1
19-17104306-T-C c.1186A>G p.S396G Missense 12/42 - 1
19-17104307-G-A c.1185C>T p.T395= Synonymous 12/42 - 2
19-17104314-A-C c.1178T>G p.I393S Missense 12/42 - 1
19-17104317-T-C c.1175A>G p.N392S Missense 12/42 - 2
19-17104319-A-C c.1173T>G p.D391E Missense 12/42 - 1
19-17104319-A-T c.1173T>A p.D391E Missense 12/42 - 1
19-17104321-C-T c.1171G>A p.D391N Missense 12/42 - 1
19-17104322-C-A c.1170G>T p.K390N Missense 12/42 - 1
19-17104322-C-G c.1170G>C p.K390N Missense 12/42 - 1
19-17104322-C-T c.1170G>A p.K390= Synonymous 12/42 - 1
19-17104327-G-A c.1165C>T p.P389S Missense 12/42 - 1
19-17104329-G-A c.1163C>T p.T388I Missense 12/42 - 1
19-17104340-C-A c.1152G>T p.K384N Missense 12/42 - 1
19-17104340-C-T c.1152G>A p.K384= Synonymous 12/42 - 1
19-17104352-C-A c.1140G>T p.T380= Synonymous 12/42 - 1
19-17104352-C-G c.1140G>C p.T380= Synonymous 12/42 - 1
19-17104352-C-T c.1140G>A p.T380= Synonymous 12/42 - 1
19-17104353-G-A c.1139C>T p.T380M Missense 12/42 - 2
19-17104357-C-T c.1135G>A p.V379M Missense 12/42 - 1
19-17104358-C-A c.1134G>T p.G378= Synonymous 12/42 - 1
19-17104358-C-G c.1134G>C p.G378= Synonymous 12/42 - 1
19-17104358-C-T c.1134G>A p.G378= Synonymous 12/42 - 1
19-17104360-C-T c.1132G>A p.G378R Missense 12/42 - 5
19-17104361-C-T c.1131G>A p.E377= Synonymous 12/42 - 4
19-17104363-C-G c.1129G>C p.E377Q Missense 12/42 - 2
19-17104363-C-T c.1129G>A p.E377K Missense 12/42 - 1
19-17104366-C-T c.1126G>A p.A376T Missense 12/42 - 4
19-17104369-G-A c.1123C>T p.P375S Missense 12/42 - 1
19-17104371-C-T c.1121G>A p.S374N Missense 12/42 - 3
19-17104375-C-T c.1117G>A p.G373S Missense 12/42 - 2
19-17104376-A-G c.1116T>C p.D372= Synonymous 12/42 - 2
19-17104378-C-A c.1114G>T p.D372Y Missense 12/42 - 1
19-17104378-C-T c.1114G>A p.D372N Missense 12/42 - 6
19-17104379-G-A c.1113C>T p.P371= Synonymous 12/42 - 3
19-17104381-G-A c.1111C>T p.P371S Missense 12/42 - 1
19-17104386-G-A c.1106C>T p.S369F Missense 12/42 - 1
19-17104387-A-G c.1105T>C p.S369P Missense 12/42 - 1
19-17104394-C-T c.1098G>A p.V366= Synonymous 12/42 - 2
19-17104433-C-G c.1096-37G>C - intron_variant - 11/41 1
19-17104433-C-T c.1096-37G>A - intron_variant - 11/41 1
19-17107825-G-A c.1095+96C>T - IntronicSNV - 11/41 7
19-17107825-G-C c.1095+96C>G - intron_variant - 11/41 5
19-17107925-C-T c.1091G>A p.G364E Missense 11/42 - 1
19-17107934-G-A c.1082C>T p.A361V Missense 11/42 - 1
19-17107940-C-G c.1076G>C p.G359A Missense 11/42 - 1
19-17107943-G-A c.1073C>T p.P358L Missense 11/42 - 4
19-17107953-G-A c.1063C>T p.Q355* Nonsense 11/42 - 2
19-17107957-CCT-ATG c.1057_1059delinsCAT p.R353H Missense 11/42 - 1
19-17107960-C-T c.1056G>A p.T352= Synonymous 11/42 - 1
19-17107966-C-A c.1050G>T p.K350N Missense 11/42 - 1
19-17107966-C-G c.1050G>C p.K350N Missense 11/42 - 1
19-17107970-G-A c.1046C>T p.S349F Missense 11/42 - 2
19-17107972-G-A c.1044C>T p.Y348= Synonymous 11/42 - 1
19-17107974-A-G c.1042T>C p.Y348H Missense 11/42 - 1
19-17107975-CC-AT c.1040_1041delinsAT p.R347H Missense 11/42 - 1
19-17107975-CCG-ACA c.1039_1041delinsTGT p.R347C Missense 11/42 - 1
19-17107977-G-C c.1039C>G p.R347G Missense 11/42 - 1
19-17107979-A-C c.1037T>G p.I346S Missense 11/42 - 1
19-17107983-C-T c.1033G>A p.D345N Missense 11/42 - 1
19-17107983-TCC-T c.1032_1033del p.D345Hfs*32 Frameshift 11/42 - 1
19-17107984-C-T c.1032G>A p.V344= Synonymous 11/42 - 1
19-17107992-G-A c.1024C>T p.Q342* Nonsense 11/42 - 1
19-17107993-C-T c.1023G>A p.R341= Synonymous 11/42 - 2
19-17107995-T-G c.1021A>C p.R341= Synonymous 11/42 - 1
19-17107994-CT-TG c.1021_1022delinsCA p.R341Q Missense 11/42 - 1
19-17107998-G-A c.1018C>T p.Q340* Nonsense 11/42 - 1
19-17107999-C-A c.1017G>T p.V339= Synonymous 11/42 - 1
19-17107999-C-G c.1017G>C p.V339= Synonymous 11/42 - 1
19-17107999-C-T c.1017G>A p.V339= Synonymous 11/42 - 1
19-17108000-A-G c.1016T>C p.V339A Missense 11/42 - 1
19-17108001-C-T c.1015G>A p.V339M Missense 11/42 - 2
19-17108002-G-A c.1014C>T p.P338= Synonymous 11/42 - 3
19-17108002-G-C c.1014C>G p.P338= Synonymous 11/42 - 1
19-17108002-G-T c.1014C>A p.P338= Synonymous 11/42 - 1
19-17108003-G-A c.1013C>T p.P338L Missense 11/42 - 3
19-17108004-G-A c.1012C>T p.P338S Missense 11/42 - 2
19-17108009-G-C c.1007C>G p.S336C Missense 11/42 - 1
19-17108017-G-C c.999C>G p.F333L Missense 11/42 - 1
19-17108017-G-T c.999C>A p.F333L Missense 11/42 - 1
19-17108019-A-G c.997T>C p.F333L Missense 11/42 - 1
19-17108022-C-A c.994G>T p.A332S missense_variant 11/42 - 1
19-17108022-C-T c.994G>A p.A332T Missense 11/42 - 4
19-17108023-G-A c.993C>T p.V331= Synonymous 11/42 - 2
19-17108023-G-C c.993C>G p.V331= Synonymous 11/42 - 1
19-17108023-G-T c.993C>A p.V331= Synonymous 11/42 - 3
19-17108025-C-T c.991G>A p.V331I Missense 11/42 - 1
19-17108029-C-A c.987G>T p.Q329H Missense 11/42 - 1
19-17108029-C-G c.987G>C p.Q329H Missense 11/42 - 1
19-17108033-CT-AG c.982_983inv p.S328L Missense 11/42 - 1
19-17108035-C-A c.981G>T p.G327= Synonymous 11/42 - 1
19-17108035-C-T c.981G>A p.G327= Synonymous 11/42 - 1
19-17108037-C-A c.979G>T p.G327W Missense 11/42 - 2
19-17108038-G-A c.978C>T p.D326= Synonymous 11/42 - 3
19-17108038-G-C c.978C>G p.D326E Missense 11/42 - 1
19-17108038-G-T c.978C>A p.D326E Missense 11/42 - 1
19-17108040-C-T c.976G>A p.D326N Missense 11/42 - 4
19-17108052-C-G c.964G>C p.V322L Missense 11/42 - 1
19-17108052-C-T c.964G>A p.V322M Missense 11/42 - 3
19-17108053-C-A c.963G>T p.M321I Missense 11/42 - 4
19-17108053-C-G c.963G>C p.M321I Missense 11/42 - 4
19-17108053-C-T c.963G>A p.M321I Missense 11/42 - 11
19-17108054-A-C c.962T>G p.M321R Missense 11/42 - 1
19-17108055-T-A c.961A>T p.M321L Missense 11/42 - 2
19-17108055-T-G c.961A>C p.M321L Missense 11/42 - 2
19-17108057-G-A c.959C>T p.A320V Missense 11/42 - 1
19-17108058-C-T c.958G>A p.A320T Missense 11/42 - 1
19-17108059-C-T c.957G>A p.W319* Nonsense 11/42 - 1
19-17108060-C-T c.956G>A p.W319* Nonsense 11/42 - 1
19-17108066-C-T c.950G>A p.S317N Missense 11/42 - 1
19-17108070-C-T c.1087G>A p.V363M Missense 11/42 - 1
19-17108071-CCT-ATG c.943_945delinsCAT p.R315H Missense 11/42 - 1
19-17108077-CC-AT c.938_939delinsAT p.R313H Missense 11/42 - 1
19-17108077-C-T c.939G>A p.R313= Synonymous 11/42 - 3
19-17108078-C-T c.938G>A p.R313Q Missense 11/42 - 4
19-17108079-G-A c.937C>T p.R313W Missense 11/42 - 1
19-17108083-G-C c.933C>G p.H311Q Missense 11/42 - 1
19-17108083-G-T c.933C>A p.H311Q Missense 11/42 - 1
19-17108085-G-T c.931C>A p.H311N Missense 11/42 - 1
19-17108088-C-G c.928G>C p.E310Q Missense 11/42 - 1
19-17108089-CA-C c.927del p.E310Sfs*13 Frameshift 11/42 - 1
19-17108094-C-T c.922G>A p.V308I Missense 11/42 - 10
19-17108095-G-A c.921C>T p.D307= Synonymous 11/42 - 1
19-17108098-C-A c.918G>T p.A306= Synonymous 11/42 - 1
19-17108098-C-T c.918G>A p.A306= Synonymous 11/42 - 2
19-17108099-G-A c.917C>T p.A306V Missense 11/42 - 1
19-17108099-G-T c.917C>A p.A306E Missense 11/42 - 1
19-17108100-C-A c.916G>T p.A306S Missense 11/42 - 2
19-17108103-G-A c.913C>T p.P305S Missense 11/42 - 1
19-17108106-T-C c.910A>G p.I304V Missense 11/42 - 1
19-17108107-C-T c.909G>A p.M303I Missense 11/42 - 1
19-17108112-C-T c.904G>A p.D302N Missense 11/42 - 3
19-17108113-CCT-ATG c.901_903delinsCAT p.R301H Missense 11/42 - 1
19-17108118-C-T c.898G>A p.V300M Missense 11/42 - 1
19-17108119-G-C c.897C>G p.C299W Missense 11/42 - 1
19-17108122-G-A c.894C>T p.I298= Synonymous 11/42 - 1
19-17108122-G-T c.894C>A p.I298= Synonymous 11/42 - 2
19-17108124-T-C c.892A>G p.I298V Missense 11/42 - 1
19-17108127-C-T c.889G>A p.D297N Missense 11/42 - 8
19-17108128-G-A c.888C>T p.F296= Synonymous 11/42 - 2
19-17108134-C-T c.882G>A p.R294= Synonymous 11/42 - 2
19-17108135-CG-TA c.880_881delinsTA p.R294* Nonsense 11/42 - 1
19-17108135-C-T c.881G>A p.R294Q Missense 11/42 - 25
19-17108134-C-A c.882G>T p.R294= Synonymous 11/42 - 1
19-17108134-C-G c.882G>C p.R294= Synonymous 11/42 - 1
19-17108136-G-A c.880C>T p.R294W Missense 11/42 - 8
19-17108136-G-T c.880C>A p.R294= Synonymous 11/42 - 1
19-17108137-GG-TT c.878_879delinsAA p.S293* Nonsense 11/42 - 1
19-17108138-G-A c.878C>T p.S293F Missense 11/42 - 3
19-17108140-G-A c.876C>T p.G292= Synonymous 11/42 - 1
19-17108140-GC-CT c.875_876delinsAG p.G292E Missense 11/42 - 1
19-17108001-C-A c.1015G>T p.V339L Missense 11/42 - 1
19-17108142-C-T c.874G>A p.G292S Missense 11/42 - 1
19-17108145-G-T c.871C>A p.L291I Missense 11/42 - 1
19-17108148-T-C c.868A>G p.I290V Missense 11/42 - 1
19-17108283-A-C c.868-135T>G - intron_variant - 10/41 4
19-17108283-A-G c.868-135T>C - intron_variant - 10/41 4
19-17108436-G-A c.868-288C>T - intron_variant - 10/41 1
19-17108436-G-C c.868-288C>G - intron_variant - 10/41 1
19-17111227-G-A c.864C>T p.T288= Synonymous 10/42 - 3
19-17111227-G-C c.864C>G p.T288= Synonymous 10/42 - 2
19-17111227-GG-CA c.863_864delinsTG p.T288M Missense 10/42 - 1
19-17111227-G-T c.864C>A p.T288= Synonymous 10/42 - 2
19-17111228-G-A c.863C>T p.T288I Missense 10/42 - 3
19-17111229-T-G c.862A>C p.T288P Missense 10/42 - 1
19-17111234-CT-TG c.856_857delinsCA p.R286Q Missense 10/42 - 1
19-17111239-GAC-CAT c.850_852delinsATG p.V284M Missense 10/42 - 1
19-17111244-G-C c.847C>G p.P283A Missense 10/42 - 1
19-17111245-G-A c.846C>T p.R282= Synonymous 10/42 - 1
19-17111245-G-C c.846C>G p.R282= Synonymous 10/42 - 1
19-17111245-GCG-CCA c.844_846delinsTGG p.R282W Missense 10/42 - 1
19-17111245-GC-TT c.845_846delinsAA p.R282Q Missense 10/42 - 1
19-17111245-G-T c.846C>A p.R282= Synonymous 10/42 - 1
19-17111246-C-T c.845G>A p.R282H Missense 10/42 - 3
19-17111250-C-T c.841G>A p.G281R Missense 10/42 - 2
19-17111253-C-A c.838G>T p.V280L Missense 10/42 - 2
19-17111253-C-T c.838G>A p.V280M Missense 10/42 - 1
19-17111256-C-G c.835G>C p.E279Q Missense 10/42 - 4
19-17111256-C-T c.835G>A p.E279K Missense 10/42 - 2
19-17111257-G-A c.834C>T p.H278= Synonymous 10/42 - 1
19-17111259-G-A c.832C>T p.H278Y Missense 10/42 - 1
19-17111261-C-T c.830G>A p.S277N Missense 10/42 - 1
19-17111263-G-C c.828C>G p.Y276* Nonsense 10/42 - 1
19-17111263-G-T c.828C>A p.Y276* Nonsense 10/42 - 1
19-17111267-T-C c.824A>G p.Y275C Missense 10/42 - 1
19-17111268-A-G c.823T>C p.Y275H Missense 10/42 - 1
19-17111269-C-T c.963G>A p.M321= Synonymous 11/42 - 2
19-17111270-C-G c.821G>C p.G274A Missense 10/42 - 1
19-17111272-T-C c.819A>G p.V273= Synonymous 10/42 - 2
19-17111283-C-T c.808G>A p.V270I Missense 10/42 - 2
19-17111287-C-A c.804G>T p.M268I Missense 10/42 - 1
19-17111287-C-G c.804G>C p.M268I Missense 10/42 - 1
19-17111287-C-T c.804G>A p.M268I Missense 10/42 - 1
19-17111292-T-C c.799A>G p.N267D Missense 10/42 - 1
19-17111293-G-A c.798C>T p.I266= Synonymous 10/42 - 3
19-17111293-G-T c.798C>A p.I266= Synonymous 10/42 - 1
19-17111294-A-G c.797T>C p.I266T Missense 10/42 - 1
19-17111296-C-A c.795G>T p.M265I Missense 10/42 - 3
19-17111296-C-G c.795G>C p.M265I Missense 10/42 - 3
19-17111296-C-T c.795G>A p.M265I Missense 10/42 - 4
19-17111297-A-G c.794T>C p.M265T Missense 10/42 - 33
19-17111297-A-T c.794T>A p.M265K missense_variant 10/42 - 8
19-17111305-A-C c.786T>G p.G262= Synonymous 10/42 - 2
19-17111305-A-G c.786T>C p.G262= Synonymous 10/42 - 1
19-17111305-A-T c.786T>A p.G262= Synonymous 10/42 - 2
19-17111313-C-A c.778G>T p.V260L Missense 10/42 - 1
19-17111313-C-G c.778G>C p.V260L Missense 10/42 - 1
19-17111314-A-C c.777T>G p.P259= Synonymous 10/42 - 1
19-17111314-A-G c.777T>C p.P259= Synonymous 10/42 - 1
19-17111314-A-T c.777T>A p.P259= Synonymous 10/42 - 1
19-17111320-C-T c.771G>A p.G257= Synonymous 10/42 - 1
19-17111327-G-A c.764C>T p.T255I Missense 10/42 - 1
19-17111331-A-G c.760T>C p.Y254H Missense 10/42 - 3
19-17111411-A-C c.759-79T>G - intron_variant - 9/41 6
19-17111411-A-G c.759-79T>C - intron_variant - 9/41 6
19-17111674-T-C c.759-342A>G - intron_variant - 9/41 1
19-17111699-A-G c.759-367T>C - intron_variant - 9/41 1
19-17112647-A-G c.758+429T>C - intron_variant - 9/41 1
19-17112785-A-G c.758+291T>C - IntronicSNV - 9/41 1
19-17112827-T-A c.758+249A>T - intron_variant - 9/41 2
19-17112827-T-C c.758+249A>G - IntronicSNV - 9/41 3
19-17112827-T-G c.758+249A>C - intron_variant - 9/41 2
19-17112874-C-A c.758+202G>T - intron_variant - 9/41 1
19-17112874-C-G c.758+202G>C - intron_variant - 9/41 1
19-17112874-C-T c.758+202G>A - intron_variant - 9/41 1
19-17112881-T-A c.758+195A>T - IntronicSNV - 9/41 2
19-17112881-T-G c.758+195A>C - intron_variant - 9/41 1
19-17112921-C-G c.758+155G>C - intron_variant - 9/41 1
19-17112921-C-T c.758+155G>A - IntronicSNV - 9/41 3
19-17112958-A-G c.758+118T>C - IntronicSNV - 9/41 1
19-17113001-C-A c.758+75G>T - IntronicSNV - 9/41 4
19-17113015-C-T c.758+61G>A - IntronicSNV - 9/41 1
19-17113078-G-A c.756C>T p.A252= Synonymous 9/42 - 1
19-17113078-G-C c.756C>G p.A252= Synonymous 9/42 - 2
19-17113078-G-T c.756C>A p.A252= Synonymous 9/42 - 1
19-17113079-G-A c.755C>T p.A252V Missense 9/42 - 1
19-17113080-C-T c.754G>A p.A252T Missense 9/42 - 1
19-17113082-C-T c.752G>A p.R251Q Missense 9/42 - 2
19-17113083-G-A c.751C>T p.R251W missense_variant 9/42 - 5
19-17113083-G-T c.751C>A p.R251R synonymous_variant 9/42 - 1
19-17113085-A-T c.749T>A p.V250E Missense 9/42 - 1
19-17113086-C-A c.889G>T p.D297Y Missense 11/42 - 3
19-17113086-C-G c.889G>C p.D297H Missense 11/42 - 3
19-17113086-C-T c.889G>A p.D297N Missense 11/42 - 3
19-17113088-G-T c.746C>A p.T249N Missense 9/42 - 1
19-17113091-C-A c.743G>T p.G248V Missense 9/42 - 1
19-17113092-C-A c.742G>T p.G248C Missense 9/42 - 1
19-17113095-T-C c.739A>G p.T247A Missense 9/42 - 1
19-17113096-CT-TA c.737_738delinsTA p.E246V Missense 9/42 - 1
19-17113097-T-C c.737A>G p.E246G Missense 9/42 - 2
19-17113097-T-TC c.736dup p.E246Gfs*26 Frameshift 9/42 - 1
19-17113098-C-G c.736G>C p.E246Q Missense 9/42 - 1
19-17113098-C-T c.736G>A p.E246K Missense 9/42 - 1
19-17113103-G-A c.731C>T p.A244V Missense 9/42 - 3
19-17113104-C-T c.730G>A p.A244T Missense 9/42 - 3
19-17113107-C-T c.727G>A p.D243N Missense 9/42 - 1
19-17113108-C-A c.726G>T p.L242= Synonymous 9/42 - 1
19-17113108-C-G c.726G>C p.L242= Synonymous 9/42 - 1
19-17113108-C-T c.726G>A p.L242= Synonymous 9/42 - 1
19-17113110-G-A c.724C>T p.L242= Synonymous 9/42 - 2
19-17113113-C-T c.721G>A p.D241N Missense 9/42 - 1
19-17113124-C-T c.710G>A p.R237Q Missense 9/42 - 1
19-17113125-G-A c.709C>T p.R237W Missense 9/42 - 3
19-17113128-G-C c.706C>G p.P236A Missense 9/42 - 1
19-17113139-A-G c.695T>C p.L232P Missense 9/42 - 1
19-17113143-G-T c.691C>A p.L231I Missense 9/42 - 1
19-17113146-C-T c.688G>A p.E230K Missense 9/42 - 1
19-17113147-A-G c.687T>C p.F229= Synonymous 9/42 - 12
19-17113151-T-G c.683A>C p.K228T Missense 9/42 - 1
19-17113153-G-A c.681C>T p.P227= Synonymous 9/42 - 2
19-17113153-G-C c.681C>G p.P227= Synonymous 9/42 - 2
19-17113153-G-T c.681C>A p.P227= Synonymous 9/42 - 2
19-17113156-C-A c.678G>T p.L226F Missense 9/42 - 2
19-17113156-C-G c.678G>C p.L226F Missense 9/42 - 2
19-17113160-A-G c.674T>C p.V225A Missense 9/42 - 3
19-17113634-G-A c.674-474C>T - intron_variant - 8/41 1
19-17115085-T-C c.671A>G p.Y224C Missense 8/42 - 3
19-17115085-T-G c.671A>C p.Y224S Missense 8/42 - 1
19-17115095-C-A c.661G>T p.V221F Missense 8/42 - 1
19-17115103-G-T c.653C>A p.S218Y Missense 8/42 - 1
19-17115105-CTTG-C c.648_650del p.N216del InFrameDeletion 8/42 - 1
19-17115115-G-A c.641C>T p.A214V Missense 8/42 - 1
19-17115116-C-T c.640G>A p.A214T Missense 8/42 - 2
19-17115117-G-A c.639C>T p.H213= Synonymous 8/42 - 1
19-17115134-C-T c.622G>A p.V208I Missense 8/42 - 1
19-17115141-G-A c.615C>T p.F205= Synonymous 8/42 - 1
19-17115143-A-G c.613T>C p.F205L Missense 8/42 - 4
19-17115151-CC-TT c.604_605delinsAA p.G202K Missense 8/42 - 1
19-17115151-C-T c.605G>A p.G202E Missense 8/42 - 1
19-17115152-C-A c.604G>T p.G202* Nonsense 8/42 - 1
19-17115152-C-T c.604G>A p.G202R Missense 8/42 - 1
19-17115153-C-A c.603G>T p.L201F Missense 8/42 - 1
19-17115153-C-G c.603G>C p.L201F Missense 8/42 - 1
19-17115153-C-T c.603G>A p.L201= Synonymous 8/42 - 3
19-17115157-A-G c.599T>C p.V200A Missense 8/42 - 1
19-17115158-C-T c.598G>A p.V200M Missense 8/42 - 1
19-17115162-C-T c.594G>A p.Q198= Synonymous 8/42 - 1
19-17115165-G-A c.591C>T p.D197= Synonymous 8/42 - 1
19-17115167-C-A c.589G>T p.D197Y Missense 8/42 - 1
19-17115167-C-T c.589G>A p.D197N Missense 8/42 - 4
19-17115168-G-A c.588C>T p.S196= Synonymous 8/42 - 3
19-17115171-C-T c.585G>A p.L195= Synonymous 8/42 - 1
19-17115173-A-G c.583T>C p.L195= Synonymous 8/42 - 1
19-17115177-G-A c.579C>T p.F193= Synonymous 8/42 - 1
19-17115177-G-T c.579C>A p.F193L Missense 8/42 - 1
19-17115180-G-A c.576C>T p.S192= Synonymous 8/42 - 1
19-17115181-C-G c.575G>C p.S192T Missense 8/42 - 1
19-17115183-C-A c.573G>T p.M191I Missense 8/42 - 1
19-17115183-C-G c.573G>C p.M191I Missense 8/42 - 1
19-17115183-C-T c.573G>A p.M191I Missense 8/42 - 1
19-17115189-GG-CA c.566_567delinsTG p.T189M Missense 8/42 - 1
19-17118433-C-T c.559+882G>A - intron_variant - 7/41 2
19-17119314-C-A c.559+1G>T - IntronicSNV - 7/41 2
19-17119315-C-T c.559G>A p.G187S Missense 7/42 - 4
19-17119316-G-A c.558C>T p.C186= Synonymous 7/42 - 1
19-17119317-GC-G c.557del p.C186Sfs*6 Frameshift 7/42 - 1
19-17119321-A-G c.553T>C p.C185R Missense 7/42 - 2
19-17119322-G-C c.552C>G p.F184L Missense 7/42 - 1
19-17119322-G-T c.552C>A p.F184L Missense 7/42 - 1
19-17119324-A-G c.550T>C p.F184L Missense 7/42 - 1
19-17119326-G-A c.548C>T p.P183L Missense 7/42 - 2
19-17119330-T-C c.544A>G p.K182E Missense 7/42 - 4
19-17119334-G-A c.540C>T p.H180= Synonymous 7/42 - 1
19-17119337-TCT-ACA c.535_537delinsTGT p.R179C Missense 7/42 - 2
19-17119340-C-T c.534G>A p.W178* Nonsense 7/42 - 2
19-17119341-C-T c.533G>A p.W178* Nonsense 7/42 - 1
19-17119344-T-C c.530A>G p.E177G Missense 7/42 - 1
19-17119350-A-C c.524T>G p.M175R Missense 7/42 - 4
19-17119353-C-T c.521G>A p.R174Q Missense 7/42 - 2
19-17119354-G-A c.520C>T p.R174W missense_variant 7/42 - 1
19-17119359-C-A c.515G>T p.G172V Missense 7/42 - 2
19-17119361-TCG-ACA c.511_513delinsTGT p.R171C Missense 7/42 - 1
19-17119362-C-A c.512G>T p.R171L Missense 7/42 - 3
19-17119366-G-A c.508C>T p.P170S Missense 7/42 - 3
19-17119367-G-A c.507C>T p.D169= Synonymous 7/42 - 1
19-17119369-C-T c.505G>A p.D169N Missense 7/42 - 1
19-17119560-T-A c.505-191A>T - intron_variant - 6/41 6
19-17119560-T-C c.505-191A>G - intron_variant - 6/41 6
19-17119560-T-G c.505-191A>C - intron_variant - 6/41 6
19-17119747-CA-C c.504+365del - IntronicDeletion - 6/41 1
19-17119798-C-G c.504+315G>C - IntronicSNV - 6/41 1
19-17119906-C-T c.504+207G>A - IntronicSNV - 6/41 1
19-17119906-TC-T c.504+207del - IntronicDeletion - 6/41 1
19-17119906-CA-C c.504+206del - IntronicDeletion - 6/41 1
19-17119934-A-G c.504+179T>C - IntronicSNV - 6/41 1
19-17120035-C-G c.504+78G>C - intron_variant - 6/41 1
19-17120035-C-T c.504+78G>A - intron_variant - 6/41 1
19-17120090-G-A c.504+23C>T - intron_variant - 6/41 1
19-17120113-C-T c.504G>A p.L168= Synonymous 6/42 - 3
19-17120117-A-T c.500T>A p.I167N Missense 6/42 - 1
19-17120118-T-G c.499A>C p.I167L Missense 6/42 - 1
19-17120120-T-C c.497A>G p.Y166C Missense 6/42 - 4
19-17120122-G-T c.495C>A p.A165= Synonymous 6/42 - 1
19-17120124-C-T c.493G>A p.A165T Missense 6/42 - 1
19-17120125-T-C c.492A>G p.E164= Synonymous 6/42 - 2
19-17120128-CAG-AAA c.487_489delinsTTT p.L163F Missense 6/42 - 1
19-17120129-A-C c.488T>G p.L163R Missense 6/42 - 1
19-17120302-G-A c.487-172C>T - intron_variant - 5/41 1
19-17121533-A-C c.486+741T>G - intron_variant - 5/41 2
19-17122274-C-A c.486G>T p.K162N Missense 5/42 - 1
19-17122274-C-G c.486G>C p.K162N Missense 5/42 - 1
19-17122274-C-T c.486G>A p.K162= Synonymous 5/42 - 2
19-17122279-C-T c.481G>A p.E161K Missense 5/42 - 1
19-17122284-A-T c.476T>A p.V159D Missense 5/42 - 1
19-17122285-C-A c.475G>T p.V159F Missense 5/42 - 2
19-17122286-A-T c.474T>A p.P158= Synonymous 5/42 - 1
19-17122287-G-A c.473C>T p.P158L Missense 5/42 - 3
19-17122287-G-T c.473C>A p.P158H Missense 5/42 - 1
19-17122288-G-A c.472C>T p.P158S Missense 5/42 - 1
19-17122289-CCT-ACA c.469_471delinsTGT p.R157C Missense 5/42 - 1
19-17122289-C-T c.471G>A p.R157= Synonymous 5/42 - 1
19-17122291-T-A c.469A>T p.R157W Missense 5/42 - 3
19-17122295-A-G c.465T>C p.N155= Synonymous 5/42 - 2
19-17122296-T-C c.464A>G p.N155S Missense 5/42 - 1
19-17122298-T-A c.462A>T p.P154= Synonymous 5/42 - 1
19-17122298-T-C c.462A>G p.P154= Synonymous 5/42 - 1
19-17122298-T-G c.462A>C p.P154= Synonymous 5/42 - 1
19-17122304-G-A c.456C>T p.V152= Synonymous 5/42 - 1
19-17122306-C-T c.454G>A p.V152I Missense 5/42 - 7
19-17122307-G-A c.453C>T p.T151= Synonymous 5/42 - 1
19-17122307-G-C c.453C>G p.T151= Synonymous 5/42 - 1
19-17122307-G-T c.453C>A p.T151= Synonymous 5/42 - 1
19-17122308-G-A c.452C>T p.T151I Missense 5/42 - 4
19-17122309-T-C c.451A>G p.T151A Missense 5/42 - 4
19-17122320-A-G c.440T>C p.I147T Missense 5/42 - 2
19-17122321-T-C c.439A>G p.I147V Missense 5/42 - 1
19-17122322-G-A c.438C>T p.L146= Synonymous 5/42 - 1
19-17122322-G-C c.438C>G p.L146= Synonymous 5/42 - 1
19-17122322-G-T c.438C>A p.L146= Synonymous 5/42 - 1
19-17122394-C-T c.433+8G>A - IntronicSNV - 4/41 1
19-17122402-C-T c.433G>A p.V145M Missense 4/42 - 3
19-17122404-C-T c.431G>A p.R144Q Missense 4/42 - 9
19-17122405-G-A c.430C>T p.R144* Nonsense 4/42 - 2
19-17122412-G-A c.423C>T p.P141= Synonymous 4/42 - 1
19-17122413-G-A c.422C>T p.P141L Missense 4/42 - 1
19-17122415-T-C c.420A>G p.R140= Synonymous 4/42 - 1
19-17122417-T-G c.418A>C p.R140= Synonymous 4/42 - 1
19-17122416-C-T c.419G>A p.R140K Missense 4/42 - 1
19-17122423-C-A c.412G>T p.V138L Missense 4/42 - 4
19-17122423-C-G c.412G>C p.V138L Missense 4/42 - 1
19-17122431-T-C c.404A>G p.D135G Missense 4/42 - 1
19-17122432-C-T c.403G>A p.D135N Missense 4/42 - 5
19-17122433-C-T c.402G>A p.T134= Synonymous 4/42 - 3
19-17122434-G-A c.401C>T p.T134M Missense 4/42 - 3
19-17122437-T-G c.398A>C p.Q133P Missense 4/42 - 1
19-17122440-A-G c.395T>C p.I132T Missense 4/42 - 1
19-17122442-G-A c.393C>T p.F131= Synonymous 4/42 - 4
19-17122447-C-A c.388G>T p.V130L Missense 4/42 - 1
19-17122452-G-T c.383C>A p.A128D Missense 4/42 - 1
19-17122454-G-A c.381C>T p.G127= Synonymous 4/42 - 3
19-17122454-G-C c.381C>G p.G127= Synonymous 4/42 - 2
19-17122454-G-T c.381C>A p.G127= Synonymous 4/42 - 3
19-17122455-C-T c.380G>A p.G127D Missense 4/42 - 2
19-17122458-C-T c.377G>A p.R126Q Missense 4/42 - 1
19-17122457-C-A c.378G>T p.R126= Synonymous 4/42 - 1
19-17122457-C-G c.378G>C p.R126= Synonymous 4/42 - 1
19-17122457-C-T c.378G>A p.R126= Synonymous 4/42 - 1
19-17122459-G-A c.376C>T p.R126W Missense 4/42 - 3
19-17122459-G-T c.376C>A p.R126= Synonymous 4/42 - 1
19-17122460-G-A c.375C>T p.G125= Synonymous 4/42 - 1
19-17122460-G-C c.375C>G p.G125= Synonymous 4/42 - 1
19-17122460-G-T c.375C>A p.G125= Synonymous 4/42 - 2
19-17122463-G-A c.372C>T p.D124= Synonymous 4/42 - 2
19-17122465-C-A c.370G>T p.D124Y Missense 4/42 - 1
19-17122468-C-T c.367G>A p.V123M Missense 4/42 - 3
19-17122469-G-A c.366C>T p.T122= Synonymous 4/42 - 3
19-17122469-G-C c.366C>G p.T122= Synonymous 4/42 - 5
19-17122469-G-T c.366C>A p.T122= Synonymous 4/42 - 2
19-17122472-C-T c.363G>A p.V121= Synonymous 4/42 - 1
19-17122473-A-G c.362T>C p.V121A Missense 4/42 - 1
19-17122475-C-T c.360G>A p.S120= Synonymous 4/42 - 1
19-17122482-T-A c.353A>T p.Q118L Missense 4/42 - 1
19-17122483-G-A c.352C>T p.Q118* Nonsense 4/42 - 1
19-17122490-A-C c.345T>G p.F115L Missense 4/42 - 1
19-17122490-A-T c.345T>A p.F115L Missense 4/42 - 1
19-17122492-A-G c.343T>C p.F115L Missense 4/42 - 1
19-17122493-G-A c.342C>T p.L114= Synonymous 4/42 - 1
19-17122493-G-C c.342C>G p.L114= Synonymous 4/42 - 1
19-17122493-G-T c.342C>A p.L114= Synonymous 4/42 - 1
19-17122495-G-A c.340C>T p.L114F Missense 4/42 - 1
19-17122497-G-A c.338C>T p.P113L Missense 4/42 - 1
19-17122498-G-A c.337C>T p.P113S Missense 4/42 - 1
19-17122499-C-T c.336G>A p.G112= Synonymous 4/42 - 1
19-17122507-C-T c.328G>A p.E110K Missense 4/42 - 3
19-17122508-C-T c.327G>A p.A109= Synonymous 4/42 - 3
19-17122509-G-A c.326C>T p.A109V Missense 4/42 - 1
19-17122514-C-A c.321G>T p.W107C Missense 4/42 - 1
19-17122514-C-G c.321G>C p.W107C Missense 4/42 - 1
19-17122520-G-A c.315C>T p.R105= Synonymous 4/42 - 1
19-17122521-C-T c.314G>A p.R105H Missense 4/42 - 2
19-17122522-G-A c.313C>T p.R105C Missense 4/42 - 1
19-17122523-G-A c.312C>T p.G104= Synonymous 4/42 - 1
19-17122523-G-C c.312C>G p.G104= Synonymous 4/42 - 1
19-17122523-G-T c.312C>A p.G104= Synonymous 4/42 - 1
19-17122524-C-A c.311G>T p.G104V Missense 4/42 - 1
19-17122526-C-A c.309G>T p.W103C Missense 4/42 - 3
19-17122526-C-G c.309G>C p.W103C Missense 4/42 - 2
19-17122526-C-T c.309G>A p.W103* Nonsense 4/42 - 4
19-17122531-C-T c.304G>A p.V102M Missense 4/42 - 1
19-17122535-CAG-AAA c.298_300delinsTTT p.L100F Missense 4/42 - 1
19-17122539-A-G c.296T>C p.L99P Missense 4/42 - 1
19-17122541-C-A c.294G>T p.A98= Synonymous 4/42 - 1
19-17122541-C-G c.294G>C p.A98= Synonymous 4/42 - 1
19-17122541-C-T c.294G>A p.A98= Synonymous 4/42 - 1
19-17122545-T-C c.290A>G p.Q97R Missense 4/42 - 1
19-17122546-G-A c.289C>T p.Q97* Nonsense 4/42 - 1
19-17122547-G-T c.288C>A p.G96= Synonymous 4/42 - 1
19-17122551-C-A c.284G>T p.R95L Missense 4/42 - 1
19-17122556-GC-CT c.278_279delinsAG p.G93E Missense 4/42 - 1
19-17122557-C-T c.278G>A p.G93D Missense 4/42 - 1
19-17122560-G-A c.275C>T p.T92M Missense 4/42 - 1
19-17122561-T-C c.274A>G p.T92A Missense 4/42 - 1
19-17122561-T-G c.274A>C p.T92P Missense 4/42 - 1
19-17122562-G-A c.273C>T p.P91= Synonymous 4/42 - 1
19-17122630-G-A c.268-63C>T - intron_variant - 3/41 5
19-17122648-G-A c.268-81C>T - intron_variant - 3/41 1
19-17126823-G-A c.268-4256C>T - intron_variant - 3/41 1
19-17128128-G-A c.267+3013C>T - intron_variant - 3/41 1
19-17128128-G-T c.267+3013C>A - intron_variant - 3/41 1
19-17130420-C-A c.267+721G>T - IntronicSNV - 3/41 1
19-17130428-C-A c.267+713G>T - IntronicSNV - 3/41 1
19-17130781-C-T c.267+360G>A - intron_variant - 3/41 1
19-17130870-C-T c.267+271G>A - IntronicSNV - 3/41 1
19-17130975-G-C c.267+166C>G - IntronicSNV - 3/41 1
19-17131141-C-T c.267G>A p.K89= Synonymous 3/42 - 2
19-17131142-T-C c.266A>G p.K89R Missense 3/42 - 1
19-17131144-G-C c.264C>G p.L88= Synonymous 3/42 - 1
19-17131147-T-A c.261A>T p.K87N Missense 3/42 - 1
19-17131147-T-G c.261A>C p.K87N Missense 3/42 - 1
19-17131148-T-G c.260A>C p.K87T Missense 3/42 - 1
19-17131150-G-C c.258C>G p.I86M Missense 3/42 - 5
19-17131152-T-C c.256A>G p.I86V Missense 3/42 - 1
19-17131156-C-T c.252G>A p.G84= Synonymous 3/42 - 1
19-17131157-C-A c.251G>T p.G84V Missense 3/42 - 1
19-17131162-A-G c.246T>C p.D82= Synonymous 3/42 - 1
19-17132841-C-A c.243G>T p.L81= Synonymous 2/42 - 1
19-17132841-C-G c.243G>C p.L81= Synonymous 2/42 - 1
19-17132841-C-T c.243G>A p.L81= Synonymous 2/42 - 1
19-17132843-G-A c.241C>T p.L81= Synonymous 2/42 - 2
19-17132844-G-A c.240C>T p.I80= Synonymous 2/42 - 1
19-17132844-G-T c.240C>A p.I80= Synonymous 2/42 - 1
19-17132847-G-C c.237C>G p.A79= Synonymous 2/42 - 2
19-17132852-C-G c.232G>C p.G78R Missense 2/42 - 1
19-17132852-C-T c.232G>A p.G78R Missense 2/42 - 1
19-17132854-T-C c.230A>G p.Q77R Missense 2/42 - 1
19-17132858-T-C c.226A>G p.S76G Missense 2/42 - 1
19-17132859-C-T c.225G>A p.Q75= Synonymous 2/42 - 1
19-17132862-C-A c.222G>T p.V74= Synonymous 2/42 - 1
19-17132862-C-G c.222G>C p.V74= Synonymous 2/42 - 1
19-17132862-C-T c.222G>A p.V74= Synonymous 2/42 - 1
19-17132865-C-A c.219G>T p.V73= Synonymous 2/42 - 1
19-17132865-C-G c.219G>C p.V73= Synonymous 2/42 - 1
19-17132865-C-T c.219G>A p.V73= Synonymous 2/42 - 2
19-17132868-C-A c.216G>T p.P72= Synonymous 2/42 - 1
19-17132868-C-G c.216G>C p.P72= Synonymous 2/42 - 1
19-17132868-C-T c.216G>A p.P72= Synonymous 2/42 - 1
19-17132869-G-A c.215C>T p.P72L Missense 2/42 - 3
19-17132872-T-C c.212A>G p.E71G Missense 2/42 - 1
19-17132873-C-T c.211G>A p.E71K Missense 2/42 - 1
19-17132876-C-T c.208G>A p.G70S Missense 2/42 - 2
19-17132877-C-A c.207G>T p.Q69H Missense 2/42 - 2
19-17132877-C-G c.207G>C p.Q69H Missense 2/42 - 3
19-17132877-C-T c.207G>A p.Q69= Synonymous 2/42 - 1
19-17132881-G-A c.203C>T p.A68V Missense 2/42 - 1
19-17132885-C-T c.199G>A p.V67M Missense 2/42 - 1
19-17132887-AG-GA c.196_197delinsTC p.L66S Missense 2/42 - 2
19-17132891-G-A c.193C>T p.Q65* Nonsense 2/42 - 2
19-17132898-G-A c.186C>T p.V62= Synonymous 2/42 - 1
19-17132898-G-C c.186C>G p.V62= Synonymous 2/42 - 1
19-17132898-G-T c.186C>A p.V62= Synonymous 2/42 - 1
19-17132901-C-A c.183G>T p.T61= Synonymous 2/42 - 2
19-17132901-C-G c.183G>C p.T61= Synonymous 2/42 - 1
19-17132901-C-T c.183G>A p.T61= Synonymous 2/42 - 1
19-17132902-G-A c.182C>T p.T61M Missense 2/42 - 3
19-17132904-GAC-CAT c.178_180delinsATG p.V60M Missense 2/42 - 1
19-17132907-T-C c.177A>G p.E59= Synonymous 2/42 - 1
19-17132909-C-T c.175G>A p.E59K Missense 2/42 - 1
19-17132910-C-T c.174G>A p.R58= Synonymous 2/42 - 1
19-17132912-T-G c.172A>C p.R58= Synonymous 2/42 - 1
19-17132911-C-A c.173G>T p.R58M Missense 2/42 - 1
19-17132911-C-T c.173G>A p.R58K Missense 2/42 - 2
19-17132911-CT-TG c.172_173delinsCA p.R58Q Missense 2/42 - 1
19-17132915-G-T c.169C>A p.P57T Missense 2/42 - 2
19-17132927-T-A c.157A>T p.I53F Missense 2/42 - 1
19-17132930-T-C c.154A>G p.T52A Missense 2/42 - 1
19-17132933-C-T c.151G>A p.V51M Missense 2/42 - 2
19-17132935-C-T c.149G>A p.S50N Missense 2/42 - 1
19-17132939-T-A c.145A>T p.I49F Missense 2/42 - 1
19-17132940-G-A c.144C>T p.V48= Synonymous 2/42 - 2
19-17132940-G-C c.144C>G p.V48= Synonymous 2/42 - 1
19-17132940-G-T c.144C>A p.V48= Synonymous 2/42 - 1
19-17132942-C-T c.142G>A p.V48I Missense 2/42 - 2
19-17132945-C-G c.139G>C p.E47Q Missense 2/42 - 1
19-17132945-C-T c.139G>A p.E47K Missense 2/42 - 3
19-17132949-C-A c.135G>T p.V45= Synonymous 2/42 - 1
19-17132951-C-A c.133G>T p.V45L missense_variant 2/42 - 1
19-17132951-C-T c.133G>A p.V45M Missense 2/42 - 3
19-17132952-GC-CT c.131_132delinsAG p.G44E Missense 2/42 - 1
19-17132954-C-G c.130G>C p.G44R Missense 2/42 - 1
19-17132955-C-A c.129G>T p.A43= Synonymous 2/42 - 1
19-17132955-C-G c.129G>C p.A43= Synonymous 2/42 - 2
19-17132955-CGC-ACA c.127_129delinsTGT p.A43C Missense 2/42 - 1
19-17132955-CG-GT c.128_129delinsAC p.A43D Missense 2/42 - 1
19-17132955-C-T c.129G>A p.A43= Synonymous 2/42 - 1
19-17132956-G-A c.128C>T p.A43V Missense 2/42 - 1
19-17132956-G-T c.128C>A p.A43E Missense 2/42 - 2
19-17132957-C-T c.127G>A p.A43T Missense 2/42 - 1
19-17132958-G-A c.126C>T p.R42= Synonymous 2/42 - 2
19-17132958-G-C c.126C>G p.R42= Synonymous 2/42 - 1
19-17132958-G-T c.126C>A p.R42= Synonymous 2/42 - 2
19-17132959-C-T c.125G>A p.R42H Missense 2/42 - 5
19-17132960-G-A c.124C>T p.R42C Missense 2/42 - 7
19-17132964-AAC-CAT c.118_120delinsATG p.V40M Missense 2/42 - 1
19-17132964-A-C c.120T>G p.V40= Synonymous 2/42 - 1
19-17132964-A-G c.120T>C p.V40= Synonymous 2/42 - 1
19-17132964-A-T c.120T>A p.V40= Synonymous 2/42 - 1
19-17132971-G-A c.113C>T p.P38L Missense 2/42 - 5
19-17132975-C-A c.109G>T p.A37S Missense 2/42 - 1
19-17132982-C-A c.102G>T p.L34F Missense 2/42 - 1
19-17132982-C-G c.102G>C p.L34F Missense 2/42 - 1
19-17132982-C-T c.102G>A p.L34= Synonymous 2/42 - 2
19-17132986-T-A c.98A>T p.Y33F Missense 2/42 - 3
19-17132988-A-C c.96T>G p.G32= Synonymous 2/42 - 2
19-17132988-A-G c.96T>C p.G32= Synonymous 2/42 - 2
19-17132988-A-T c.96T>A p.G32= Synonymous 2/42 - 2
19-17132989-C-G c.95G>C p.G32A Missense 2/42 - 1
19-17132989-C-T c.95G>A p.G32D Missense 2/42 - 1
19-17133009-C-T c.93-18G>A - intron_variant - 1/41 1
19-17133028-C-A c.93-37G>T - intron_variant - 1/41 3
19-17133113-G-A c.93-122C>T - intron_variant - 1/41 1
19-17133113-G-T c.93-122C>A - intron_variant - 1/41 1
19-17137250-C-A c.92+111G>T - IntronicSNV - 1/41 1
19-17137290-A-C c.92+71T>G - IntronicSNV - 1/41 7
19-17137365-C-T c.88G>A p.A30T Missense 1/42 - 1
19-17137375-C-T c.78G>A p.A26= Synonymous 1/42 - 1
19-17137379-G-A c.74C>T p.A25V Missense 1/42 - 1
19-17137380-C-T c.73G>A p.A25T Missense 1/42 - 2
19-17137383-G-A c.70C>T p.R24C Missense 1/42 - 2
19-17137385-A-T c.68T>A p.V23E Missense 1/42 - 1
19-17137386-C-T c.67G>A p.V23M Missense 1/42 - 1
19-17137387-G-A c.66C>T p.G22= Synonymous 1/42 - 1
19-17137388-C-G c.65G>C p.G22A Missense 1/42 - 1
19-17137390-G-C c.63C>G p.D21E Missense 1/42 - 1
19-17137390-G-T c.63C>A p.D21E Missense 1/42 - 1
19-17137391-T-C c.62A>G p.D21G Missense 1/42 - 1
19-17137392-C-A c.61G>T p.D21Y Missense 1/42 - 1
19-17137393-CCG-ACA c.58_60delinsTGT p.R20C Missense 1/42 - 1
19-17137394-C-T c.59G>A p.R20Q Missense 1/42 - 1
19-17137395-G-A c.58C>T p.R20W Missense 1/42 - 1
19-17137397-G-T c.56C>A p.A19E Missense 1/42 - 1
19-17137400-G-A c.53C>T p.S18L Missense 1/42 - 2
19-17137412-A-G c.41T>C p.L14P Missense 1/42 - 1
19-17137415-AGGAGCG-A c.32_37del p.P11_L12del InFrameDeletion 1/42 - 1
19-17137421-G-A c.32C>T p.P11L Missense 1/42 - 1
19-17137422-G-A c.31C>T p.P11S Missense 1/42 - 1
19-17137430-G-C c.23C>G p.P8R Missense 1/42 - 1
19-17137431-G-A c.22C>T p.P8S Missense 1/42 - 1
19-17137432-C-A c.21G>T p.W7C Missense 1/42 - 1
19-17137432-C-G c.21G>C p.W7C Missense 1/42 - 1
19-17137435-GA-TT c.17_18delinsAA p.L6Q Missense 1/42 - 1
19-17137438-C-A c.15G>T p.L5= Synonymous 1/42 - 1
19-17137438-C-G c.15G>C p.L5= Synonymous 1/42 - 1
19-17137438-C-T c.15G>A p.L5= Synonymous 1/42 - 1
19-17137440-G-A c.13C>T p.L5= Synonymous 1/42 - 1
19-17137440-G-C c.13C>G p.L5V Missense 1/42 - 1
19-17137441-GG-CT c.11_12delinsAG p.A4E Missense 1/42 - 1
19-17137442-G-A c.11C>T p.A4V Missense 1/42 - 1
19-17137442-G-C c.11C>G p.A4G Missense 1/42 - 1
19-17137443-C-T c.10G>A p.A4T Missense 1/42 - 1
19-17137445-C-G c.8G>C p.G3A Missense 1/42 - 1
19-17137445-C-T c.8G>A p.G3D Missense 1/42 - 1
19-17137447-G-A c.6C>T p.S2= Synonymous 1/42 - 1
19-17137447-G-C c.6C>G p.S2R Missense 1/42 - 1
19-17137448-CT-AA c.4_5delinsTT p.S2F Missense 1/42 - 1
19-17137452-T-C c.1A>G p.M1? Missense 1/42 - 1
19-17137466-G-A c.128C>T p.A43V Missense 2/42 - 1
19-17137466-G-T c.128C>A p.A43E Missense 2/42 - 2
19-17137469-G-C c.-17C>G - Missense 1/42 - 1
19-17137488-G-A c.-36C>T - Missense 1/42 - 1
19-17137497-C-A c.-45G>T - Missense 1/42 - 1
19-17137500-G-A c.-48C>T - Missense 1/42 - 2
19-17137504-G-T c.-52C>A = Synonymous 1/42 - 1
19-17137520-C-T c.-68G>A - Missense 1/42 - 1
19-17137521-C-T c.-69G>A - Missense 1/42 - 1
19-17137526-G-T c.-74C>A - Missense 1/42 - 1
19-17137527-C-A c.-75G>T - Missense 1/42 - 1
19-17137581-C-A c.-129G>T - Missense 1/42 - 1
19-17137581-C-T c.-129G>A - Missense 1/42 - 2
19-17137587-G-A c.-135C>T - Missense 1/42 - 1
19-17137683-C-T c.-90G>A - IntergenicSNV 1/42 - 1