Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
9-32629645-T-C | c.*452A>G | - | 3-UTRSNV | 1/1 | - | 2 |
9-32630104-C-T | c.5474G>A | p.G1825E | Missense | 1/1 | - | 1 |
9-32630105-C-A | c.5473G>T | p.G1825* | Nonsense | 1/1 | - | 3 |
9-32630105-C-T | c.5473G>A | p.G1825R | Missense | 1/1 | - | 2 |
9-32630106-G-A | c.5472C>T | p.H1824= | Synonymous | 1/1 | - | 2 |
9-32630106-G-C | c.5472C>G | p.H1824Q | Missense | 1/1 | - | 1 |
9-32630106-G-T | c.5472C>A | p.H1824Q | Missense | 1/1 | - | 3 |
9-32630107-T-C | c.5471A>G | p.H1824R | Missense | 1/1 | - | 1 |
9-32630108-G-A | c.5470C>T | p.H1824Y | Missense | 1/1 | - | 1 |
9-32630109-C-T | c.5469G>A | p.G1823= | Synonymous | 1/1 | - | 1 |
9-32630110-C-A | c.5468G>T | p.G1823V | Missense | 1/1 | - | 1 |
9-32630110-C-T | c.5468G>A | p.G1823E | Missense | 1/1 | - | 3 |
9-32630111-C-A | c.5467G>T | p.G1823W | Missense | 1/1 | - | 2 |
9-32630111-CA-AT | c.5466_5467delinsAT | p.D1822_G1823delinsEW | MultiAAMissense | 1/1 | - | 1 |
9-32630111-C-G | c.5467G>C | p.G1823R | Missense | 1/1 | - | 2 |
9-32630111-C-T | c.5467G>A | p.G1823R | Missense | 1/1 | - | 3 |
9-32630112-A-C | c.5466T>G | p.D1822E | Missense | 1/1 | - | 1 |
9-32630112-A-T | c.5466T>A | p.D1822E | Missense | 1/1 | - | 2 |
9-32630113-T-C | c.5465A>G | p.D1822G | Missense | 1/1 | - | 1 |
9-32630117-T-C | c.5461A>G | p.K1821E | Missense | 1/1 | - | 1 |
9-32630119-T-C | c.5459A>G | p.H1820R | Missense | 1/1 | - | 2 |
9-32630120-G-A | c.5458C>T | p.H1820Y | Missense | 1/1 | - | 1 |
9-32630120-G-C | c.5458C>G | p.H1820D | Missense | 1/1 | - | 1 |
9-32630123-C-A | c.5455G>T | p.E1819* | Nonsense | 1/1 | - | 2 |
9-32630123-C-G | c.5455G>C | p.E1819Q | Missense | 1/1 | - | 1 |
9-32630123-C-T | c.5455G>A | p.E1819K | Missense | 1/1 | - | 4 |
9-32630127-T-G | c.5451A>C | p.S1817= | Synonymous | 1/1 | - | 1 |
9-32630131-G-A | c.5447C>T | p.A1816V | Missense | 1/1 | - | 1 |
9-32630134-T-C | c.5444A>G | p.H1815R | Missense | 1/1 | - | 1 |
9-32630135-G-T | c.5443C>A | p.H1815N | Missense | 1/1 | - | 3 |
9-32630137-CT-C | c.5441del | p.Q1814Rfs*84 | Frameshift | 1/1 | - | 1 |
9-32630137-T-C | c.5441A>G | p.Q1814R | Missense | 1/1 | - | 1 |
9-32630139-GAAGCATGAA-G | c.5431_5439del | p.F1811_L1813del | InFrameDeletion | 1/1 | - | 1 |
9-32630141-G-T | c.5437C>A | p.L1813I | Missense | 1/1 | - | 1 |
9-32630142-C-A | c.5436G>T | p.M1812I | Missense | 1/1 | - | 1 |
9-32630142-C-G | c.5436G>C | p.M1812I | Missense | 1/1 | - | 1 |
9-32630142-C-T | c.5436G>A | p.M1812I | Missense | 1/1 | - | 2 |
9-32630146-A-T | c.5432T>A | p.F1811Y | Missense | 1/1 | - | 1 |
9-32630147-A-G | c.5431T>C | p.F1811L | Missense | 1/1 | - | 1 |
9-32630148-G-A | c.5430C>T | p.P1810= | Synonymous | 1/1 | - | 5 |
9-32630149-G-A | c.5429C>T | p.P1810L | Missense | 1/1 | - | 3 |
9-32630150-G-A | c.5428C>T | p.P1810S | Missense | 1/1 | - | 1 |
9-32630154-T-C | c.5424A>G | p.K1808= | Synonymous | 1/1 | - | 3 |
9-32630155-T-G | c.5423A>C | p.K1808T | Missense | 1/1 | - | 1 |
9-32630156-TTG-T | c.5421_5422del | p.K1808Tfs*23 | Frameshift | 1/1 | - | 1 |
9-32630157-G-A | c.5421C>T | p.P1807= | Synonymous | 1/1 | - | 3 |
9-32630159-G-A | c.5419C>T | p.P1807S | Missense | 1/1 | - | 1 |
9-32630160-TCT-CCA | c.5416_5418delinsTGG | p.R1806W | Missense | 1/1 | - | 1 |
9-32630161-C-A | c.5417G>T | p.R1806I | Missense | 1/1 | - | 1 |
9-32630161-C-G | c.5417G>C | p.R1806T | Missense | 1/1 | - | 2 |
9-32630161-C-T | c.5417G>A | p.R1806K | Missense | 1/1 | - | 6 |
9-32630165-T-C | c.5413A>G | p.I1805V | Missense | 1/1 | - | 4 |
9-32630167-C-T | c.5411G>A | p.G1804E | Missense | 1/1 | - | 1 |
9-32630168-C-G | c.5410G>C | p.G1804R | Missense | 1/1 | - | 1 |
9-32630168-C-T | c.5410G>A | p.G1804R | Missense | 1/1 | - | 3 |
9-32630171-C-T | c.5407G>A | p.G1803S | Missense | 1/1 | - | 1 |
9-32630172-A-C | c.5406T>G | p.Y1802* | Nonsense | 1/1 | - | 2 |
9-32630172-A-T | c.5406T>A | p.Y1802* | Nonsense | 1/1 | - | 1 |
9-32630173-T-A | c.5405A>T | p.Y1802F | Missense | 1/1 | - | 1 |
9-32630173-T-G | c.5405A>C | p.Y1802S | Missense | 1/1 | - | 3 |
9-32630177-C-T | c.5401G>A | p.G1801R | Missense | 1/1 | - | 7 |
9-32630178-C-A | c.5400G>T | p.V1800= | Synonymous | 1/1 | - | 1 |
9-32630178-C-G | c.5400G>C | p.V1800= | Synonymous | 1/1 | - | 1 |
9-32630178-C-T | c.5400G>A | p.V1800= | Synonymous | 1/1 | - | 1 |
9-32630183-C-T | c.5395G>A | p.D1799N | Missense | 1/1 | - | 5 |
9-32630184-A-C | c.5394T>G | p.S1798= | Synonymous | 1/1 | - | 2 |
9-32630184-A-G | c.5394T>C | p.S1798= | Synonymous | 1/1 | - | 1 |
9-32630184-A-T | c.5394T>A | p.S1798= | Synonymous | 1/1 | - | 1 |
9-32630185-G-A | c.5393C>T | p.S1798F | Missense | 1/1 | - | 4 |
9-32630194-C-T | c.5384G>A | p.G1795E | Missense | 1/1 | - | 1 |
9-32630202-A-C | c.5376T>G | p.S1792R | Missense | 1/1 | - | 1 |
9-32630202-A-T | c.5376T>A | p.S1792R | Missense | 1/1 | - | 2 |
9-32630204-T-G | c.5374A>C | p.S1792R | Missense | 1/1 | - | 1 |
9-32630203-C-T | c.5375G>A | p.S1792N | Missense | 1/1 | - | 1 |
9-32630205-C-A | c.5373G>T | p.L1791= | Synonymous | 1/1 | - | 1 |
9-32630205-C-G | c.5373G>C | p.L1791= | Synonymous | 1/1 | - | 1 |
9-32630205-C-T | c.5373G>A | p.L1791= | Synonymous | 1/1 | - | 1 |
9-32630207-G-A | c.5371C>T | p.L1791= | Synonymous | 1/1 | - | 1 |
9-32630208-C-T | c.5370G>A | p.Q1790= | Synonymous | 1/1 | - | 1 |
9-32630210-G-A | c.5368C>T | p.Q1790* | Nonsense | 1/1 | - | 2 |
9-32630210-G-T | c.5368C>A | p.Q1790K | Missense | 1/1 | - | 1 |
9-32630211-G-A | c.5367C>T | p.I1789= | Synonymous | 1/1 | - | 4 |
9-32630215-G-C | c.5363C>G | p.A1788G | Missense | 1/1 | - | 3 |
9-32630216-C-A | c.5362G>T | p.A1788S | Missense | 1/1 | - | 1 |
9-32630218-G-A | c.5360C>T | p.S1787F | Missense | 1/1 | - | 2 |
9-32630220-G-A | c.5358C>T | p.F1786= | Synonymous | 1/1 | - | 1 |
9-32630221-A-G | c.5357T>C | p.F1786S | Missense | 1/1 | - | 1 |
9-32630222-A-T | c.5356T>A | p.F1786I | Missense | 1/1 | - | 3 |
9-32630224-G-A | c.5354C>T | p.P1785L | Missense | 1/1 | - | 6 |
9-32630224-G-T | c.5354C>A | p.P1785H | Missense | 1/1 | - | 3 |
9-32630225-G-T | c.5353C>A | p.P1785T | Missense | 1/1 | - | 1 |
9-32630227-T-C | c.5351A>G | p.N1784S | Missense | 1/1 | - | 2 |
9-32630228-T-A | c.5350A>T | p.N1784Y | Missense | 1/1 | - | 1 |
9-32630231-C-T | c.5347G>A | p.D1783N | Missense | 1/1 | - | 1 |
9-32630233-C-T | c.5345G>A | p.G1782E | Missense | 1/1 | - | 1 |
9-32630237-C-CA | c.5340_5341insT | p.E1781* | Nonsense | 1/1 | - | 1 |
9-32630237-C-T | c.5341G>A | p.E1781K | Missense | 1/1 | - | 1 |
9-32630240-C-G | c.5338G>C | p.E1780Q | Missense | 1/1 | - | 1 |
9-32630240-C-T | c.5338G>A | p.E1780K | Missense | 1/1 | - | 7 |
9-32630241-G-A | c.5337C>T | p.D1779= | Synonymous | 1/1 | - | 1 |
9-32630246-T-A | c.5332A>T | p.S1778C | Missense | 1/1 | - | 1 |
9-32630247-C-A | c.5331G>T | p.G1777= | Synonymous | 1/1 | - | 3 |
9-32630247-C-G | c.5331G>C | p.G1777= | Synonymous | 1/1 | - | 3 |
9-32630247-C-T | c.5331G>A | p.G1777= | Synonymous | 1/1 | - | 4 |
9-32630248-C-G | c.5330G>C | p.G1777A | Missense | 1/1 | - | 1 |
9-32630248-C-T | c.5330G>A | p.G1777E | Missense | 1/1 | - | 4 |
9-32630252-C-T | c.5326G>A | p.A1776T | Missense | 1/1 | - | 1 |
9-32630253-A-G | c.5325T>C | p.D1775= | Synonymous | 1/1 | - | 5 |
9-32630255-C-A | c.5323G>T | p.D1775Y | Missense | 1/1 | - | 5 |
9-32630255-C-T | c.5323G>A | p.D1775N | Missense | 1/1 | - | 1 |
9-32630258-C-A | c.5320G>T | p.E1774* | Nonsense | 1/1 | - | 4 |
9-32630258-C-T | c.5320G>A | p.E1774K | Missense | 1/1 | - | 5 |
9-32630260-T-A | c.5318A>T | p.E1773V | Missense | 1/1 | - | 1 |
9-32630261-C-T | c.5317G>A | p.E1773K | Missense | 1/1 | - | 1 |
9-32630264-C-T | c.5314G>A | p.D1772N | Missense | 1/1 | - | 8 |
9-32630268-T-A | c.5310A>T | p.E1770D | Missense | 1/1 | - | 1 |
9-32630268-T-G | c.5310A>C | p.E1770D | Missense | 1/1 | - | 2 |
9-32630270-C-A | c.5308G>T | p.E1770* | Nonsense | 1/1 | - | 1 |
9-32630270-C-T | c.5308G>A | p.E1770K | Missense | 1/1 | - | 1 |
9-32630272-C-G | c.5306G>C | p.G1769A | Missense | 1/1 | - | 1 |
9-32630272-C-T | c.5306G>A | p.G1769E | Missense | 1/1 | - | 1 |
9-32630273-C-T | c.5305G>A | p.G1769R | Missense | 1/1 | - | 2 |
9-32630278-G-C | c.5300C>G | p.S1767C | Missense | 1/1 | - | 1 |
9-32630280-T-C | c.5298A>G | p.I1766M | Missense | 1/1 | - | 2 |
9-32630282-T-C | c.5296A>G | p.I1766V | Missense | 1/1 | - | 5 |
9-32630285-G-A | c.5293C>T | p.L1765F | Missense | 1/1 | - | 5 |
9-32630291-C-A | c.5287G>T | p.D1763Y | Missense | 1/1 | - | 1 |
9-32630291-C-T | c.5287G>A | p.D1763N | Missense | 1/1 | - | 1 |
9-32630292-C-A | c.5286G>T | p.E1762D | Missense | 1/1 | - | 1 |
9-32630292-C-G | c.5286G>C | p.E1762D | Missense | 1/1 | - | 2 |
9-32630304-A-G | c.5274T>C | p.S1758= | Synonymous | 1/1 | - | 3 |
9-32630309-C-T | c.5269G>A | p.A1757T | Missense | 1/1 | - | 1 |
9-32630313-A-C | c.5265T>G | p.P1755= | Synonymous | 1/1 | - | 1 |
9-32630313-A-G | c.5265T>C | p.P1755= | Synonymous | 1/1 | - | 2 |
9-32630313-A-T | c.5265T>A | p.P1755= | Synonymous | 1/1 | - | 1 |
9-32630314-G-A | c.5264C>T | p.P1755L | Missense | 1/1 | - | 1 |
9-32630314-G-T | c.5264C>A | p.P1755H | Missense | 1/1 | - | 1 |
9-32630329-C-T | c.5249G>A | p.G1750E | Missense | 1/1 | - | 2 |
9-32630333-C-G | c.5245G>C | p.E1749Q | Missense | 1/1 | - | 1 |
9-32630334-C-T | c.5244G>A | p.E1748= | Synonymous | 1/1 | - | 3 |
9-32630336-C-CA | c.5241_5242insT | p.E1748* | Nonsense | 1/1 | - | 1 |
9-32630336-C-G | c.5242G>C | p.E1748Q | Missense | 1/1 | - | 1 |
9-32630337-T-A | c.5241A>T | p.E1747D | Missense | 1/1 | - | 1 |
9-32630337-T-G | c.5241A>C | p.E1747D | Missense | 1/1 | - | 1 |
9-32630338-T-A | c.5240A>T | p.E1747V | Missense | 1/1 | - | 1 |
9-32630339-C-T | c.5239G>A | p.E1747K | Missense | 1/1 | - | 1 |
9-32630346-A-T | c.5232T>A | p.L1744= | Synonymous | 1/1 | - | 1 |
9-32630348-G-T | c.5230C>A | p.L1744I | Missense | 1/1 | - | 1 |
9-32630351-C-A | c.5227G>T | p.D1743Y | Missense | 1/1 | - | 1 |
9-32630351-C-T | c.5227G>A | p.D1743N | Missense | 1/1 | - | 6 |
9-32630359-C-A | c.5219G>T | p.G1740V | Missense | 1/1 | - | 1 |
9-32630360-C-T | c.5218G>A | p.G1740R | Missense | 1/1 | - | 1 |
9-32630361-C-A | c.5217G>T | p.G1739= | Synonymous | 1/1 | - | 1 |
9-32630361-C-G | c.5217G>C | p.G1739= | Synonymous | 1/1 | - | 1 |
9-32630361-C-T | c.5217G>A | p.G1739= | Synonymous | 1/1 | - | 2 |
9-32630363-C-T | c.5215G>A | p.G1739R | Missense | 1/1 | - | 1 |
9-32630367-T-A | c.5211A>T | p.P1737= | Synonymous | 1/1 | - | 1 |
9-32630367-T-C | c.5211A>G | p.P1737= | Synonymous | 1/1 | - | 1 |
9-32630367-T-G | c.5211A>C | p.P1737= | Synonymous | 1/1 | - | 1 |
9-32630368-G-C | c.5210C>G | p.P1737R | Missense | 1/1 | - | 1 |
9-32630369-G-A | c.5209C>T | p.P1737S | Missense | 1/1 | - | 3 |
9-32630367-TG-T | c.5210del | p.P1737Qfs*55 | Frameshift | 1/1 | - | 1 |
9-32630372-C-A | c.5206G>T | p.A1736S | Missense | 1/1 | - | 1 |
9-32630372-C-T | c.5206G>A | p.A1736T | Missense | 1/1 | - | 1 |
9-32630373-T-C | c.5205A>G | p.P1735= | Synonymous | 1/1 | - | 2 |
9-32630373-T-G | c.5205A>C | p.P1735= | Synonymous | 1/1 | - | 1 |
9-32630378-G-A | c.5200C>T | p.P1734S | Missense | 1/1 | - | 2 |
9-32630380-T-G | c.5198A>C | p.K1733T | Missense | 1/1 | - | 1 |
9-32630383-G-A | c.5195C>T | p.P1732L | Missense | 1/1 | - | 5 |
9-32630385-T-A | c.5193A>T | p.K1731N | Missense | 1/1 | - | 3 |
9-32630385-T-C | c.5193A>G | p.K1731= | Synonymous | 1/1 | - | 1 |
9-32630385-T-G | c.5193A>C | p.K1731N | Missense | 1/1 | - | 7 |
9-32630386-T-C | c.5192A>G | p.K1731R | Missense | 1/1 | - | 3 |
9-32630387-T-C | c.5191A>G | p.K1731E | Missense | 1/1 | - | 1 |
9-32630388-C-A | c.5190G>T | p.G1730= | Synonymous | 1/1 | - | 1 |
9-32630388-C-G | c.5190G>C | p.G1730= | Synonymous | 1/1 | - | 1 |
9-32630388-C-T | c.5190G>A | p.G1730= | Synonymous | 1/1 | - | 1 |
9-32630389-C-A | c.5189G>T | p.G1730V | Missense | 1/1 | - | 1 |
9-32630389-C-T | c.5189G>A | p.G1730E | Missense | 1/1 | - | 5 |
9-32630391-A-C | c.5187T>G | p.D1729E | Missense | 1/1 | - | 1 |
9-32630391-A-T | c.5187T>A | p.D1729E | Missense | 1/1 | - | 1 |
9-32630392-T-C | c.5186A>G | p.D1729G | Missense | 1/1 | - | 1 |
9-32630394-C-A | c.5184G>T | p.E1728D | Missense | 1/1 | - | 1 |
9-32630394-C-G | c.5184G>C | p.E1728D | Missense | 1/1 | - | 1 |
9-32630399-C-T | c.5179G>A | p.E1727K | Missense | 1/1 | - | 3 |
9-32630400-C-A | c.5178G>T | p.E1726D | Missense | 1/1 | - | 2 |
9-32630400-C-G | c.5178G>C | p.E1726D | Missense | 1/1 | - | 1 |
9-32630402-C-T | c.5176G>A | p.E1726K | Missense | 1/1 | - | 1 |
9-32630403-A-C | c.5175T>G | p.D1725E | Missense | 1/1 | - | 5 |
9-32630407-T-C | c.5171A>G | p.D1724G | Missense | 1/1 | - | 1 |
9-32630408-C-T | c.5170G>A | p.D1724N | Missense | 1/1 | - | 1 |
9-32630414-C-A | c.5164G>T | p.G1722W | Missense | 1/1 | - | 2 |
9-32630421-A-C | c.5157T>G | p.D1719E | Missense | 1/1 | - | 1 |
9-32630421-A-T | c.5157T>A | p.D1719E | Missense | 1/1 | - | 1 |
9-32630430-A-C | c.5148T>G | p.S1716= | Synonymous | 1/1 | - | 1 |
9-32630430-A-G | c.5148T>C | p.S1716= | Synonymous | 1/1 | - | 1 |
9-32630430-A-T | c.5148T>A | p.S1716= | Synonymous | 1/1 | - | 1 |
9-32630431-G-A | c.5147C>T | p.S1716F | Missense | 1/1 | - | 1 |
9-32630449-C-T | c.5129G>A | p.R1710K | Missense | 1/1 | - | 4 |
9-32630449-CT-TG | c.5128_5129delinsCA | p.R1710Q | Missense | 1/1 | - | 1 |
9-32630457-G-A | c.5121C>T | p.G1707= | Synonymous | 1/1 | - | 1 |
9-32630457-G-C | c.5121C>G | p.G1707= | Synonymous | 1/1 | - | 1 |
9-32630457-G-T | c.5121C>A | p.G1707= | Synonymous | 1/1 | - | 1 |
9-32630458-C-G | c.5120G>C | p.G1707A | Missense | 1/1 | - | 3 |
9-32630460-C-A | c.5118G>T | p.Q1706H | Missense | 1/1 | - | 1 |
9-32630460-C-T | c.5118G>A | p.Q1706= | Synonymous | 1/1 | - | 1 |
9-32630464-C-A | c.5114G>T | p.C1705F | Missense | 1/1 | - | 1 |
9-32630464-C-T | c.5114G>A | p.C1705Y | Missense | 1/1 | - | 2 |
9-32630466-C-A | c.5112G>T | p.M1704I | Missense | 1/1 | - | 1 |
9-32630472-T-C | c.5106A>G | p.K1702= | Synonymous | 1/1 | - | 15 |
9-32630473-T-C | c.5105A>G | p.K1702R | Missense | 1/1 | - | 1 |
9-32630480-G-A | c.5098C>T | p.P1700S | Missense | 1/1 | - | 1 |
9-32630480-G-T | c.5098C>A | p.P1700T | Missense | 1/1 | - | 2 |
9-32630485-G-A | c.5093C>T | p.A1698V | Missense | 1/1 | - | 2 |
9-32630488-G-A | c.5090C>T | p.T1697I | Missense | 1/1 | - | 1 |
9-32630489-T-C | c.5089A>G | p.T1697A | Missense | 1/1 | - | 2 |
9-32630489-T-G | c.5089A>C | p.T1697P | Missense | 1/1 | - | 1 |
9-32630491-G-T | c.5087C>A | p.S1696Y | Missense | 1/1 | - | 2 |
9-32630499-C-T | c.5079G>A | p.L1693= | Synonymous | 1/1 | - | 1 |
9-32630501-A-G | c.5077T>C | p.L1693= | Synonymous | 1/1 | - | 1 |
9-32630502-G-A | c.5076C>T | p.V1692= | Synonymous | 1/1 | - | 1 |
9-32630502-G-C | c.5076C>G | p.V1692= | Synonymous | 1/1 | - | 1 |
9-32630502-G-T | c.5076C>A | p.V1692= | Synonymous | 1/1 | - | 2 |
9-32630508-C-A | c.5070G>T | p.L1690F | Missense | 1/1 | - | 3 |
9-32630508-C-G | c.5070G>C | p.L1690F | Missense | 1/1 | - | 2 |
9-32630519-C-G | c.5059G>C | p.E1687Q | Missense | 1/1 | - | 1 |
9-32630521-T-C | c.5057A>G | p.D1686G | Missense | 1/1 | - | 1 |
9-32630529-TAC-CAT | c.5047_5049delinsATG | p.V1683M | Missense | 1/1 | - | 1 |
9-32630532-A-C | c.5046T>G | p.S1682= | Synonymous | 1/1 | - | 1 |
9-32630532-A-G | c.5046T>C | p.S1682= | Synonymous | 1/1 | - | 1 |
9-32630532-A-T | c.5046T>A | p.S1682= | Synonymous | 1/1 | - | 1 |
9-32630533-G-A | c.5045C>T | p.S1682F | Missense | 1/1 | - | 2 |
9-32630531-CAG-C | c.5045_5046del | p.S1682Cfs*5 | Frameshift | 1/1 | - | 1 |
9-32630536-G-A | c.5042C>T | p.A1681V | Missense | 1/1 | - | 1 |
9-32630536-G-T | c.5042C>A | p.A1681D | Missense | 1/1 | - | 1 |
9-32630540-C-T | c.5038G>A | p.D1680N | Missense | 1/1 | - | 1 |
9-32630543-G-A | c.5035C>T | p.R1679* | Nonsense | 1/1 | - | 3 |
9-32630547-C-A | c.5031G>T | p.T1677= | Synonymous | 1/1 | - | 2 |
9-32630547-C-G | c.5031G>C | p.T1677= | Synonymous | 1/1 | - | 2 |
9-32630547-C-T | c.5031G>A | p.T1677= | Synonymous | 1/1 | - | 4 |
9-32630549-T-C | c.5029A>G | p.T1677A | Missense | 1/1 | - | 5 |
9-32630551-C-A | c.5027G>T | p.S1676I | Missense | 1/1 | - | 1 |
9-32630556-G-A | c.5022C>T | p.S1674= | Synonymous | 1/1 | - | 1 |
9-32630556-G-C | c.5022C>G | p.S1674= | Synonymous | 1/1 | - | 1 |
9-32630556-G-T | c.5022C>A | p.S1674= | Synonymous | 1/1 | - | 1 |
9-32630557-G-A | c.5021C>T | p.S1674F | Missense | 1/1 | - | 3 |
9-32630558-A-G | c.5020T>C | p.S1674P | Missense | 1/1 | - | 1 |
9-32630560-G-A | c.5018C>T | p.T1673I | Missense | 1/1 | - | 1 |
9-32630560-G-C | c.5018C>G | p.T1673R | Missense | 1/1 | - | 5 |
9-32630560-G-T | c.5018C>A | p.T1673K | Missense | 1/1 | - | 1 |
9-32630576-T-C | c.5002A>G | p.M1668V | Missense | 1/1 | - | 1 |
9-32630579-C-T | c.4999G>A | p.D1667N | Missense | 1/1 | - | 11 |
9-32630586-C-T | c.4992G>A | p.Q1664= | Synonymous | 1/1 | - | 2 |
9-32630589-A-C | c.4989T>G | p.S1663= | Synonymous | 1/1 | - | 1 |
9-32630590-GA-AG | c.4987_4988delinsCT | p.S1663L | Missense | 1/1 | - | 1 |
9-32630590-G-T | c.4988C>A | p.S1663Y | Missense | 1/1 | - | 1 |
9-32630601-CC-GT | c.4976_4977delinsAC | p.G1659D | Missense | 1/1 | - | 1 |
9-32630602-C-T | c.4976G>A | p.G1659E | Missense | 1/1 | - | 1 |
9-32630606-G-A | c.4972C>T | p.P1658S | Missense | 1/1 | - | 1 |
9-32630606-G-T | c.4972C>A | p.P1658T | Missense | 1/1 | - | 1 |
9-32630607-GG-CA | c.4970_4971delinsTG | p.T1657M | Missense | 1/1 | - | 1 |
9-32630608-G-A | c.4970C>T | p.T1657I | Missense | 1/1 | - | 1 |
9-32630610-C-G | c.4968G>C | p.M1656I | Missense | 1/1 | - | 1 |
9-32630610-C-T | c.4968G>A | p.M1656I | Missense | 1/1 | - | 1 |
9-32630614-G-T | c.4964C>A | p.P1655Q | Missense | 1/1 | - | 3 |
9-32630615-G-A | c.4963C>T | p.P1655S | Missense | 1/1 | - | 2 |
9-32630615-G-T | c.4963C>A | p.P1655T | Missense | 1/1 | - | 1 |
9-32630623-C-T | c.4955G>A | p.S1652N | Missense | 1/1 | - | 2 |
9-32630627-C-A | c.4951G>T | p.E1651* | Nonsense | 1/1 | - | 1 |
9-32630629-A-G | c.4949T>C | p.L1650S | Missense | 1/1 | - | 1 |
9-32630639-C-T | c.4939G>A | p.E1647K | Missense | 1/1 | - | 4 |
9-32630643-C-T | c.4935G>A | p.L1645= | Synonymous | 1/1 | - | 1 |
9-32630646-A-C | c.4932T>G | p.A1644= | Synonymous | 1/1 | - | 1 |
9-32630646-A-G | c.4932T>C | p.A1644= | Synonymous | 1/1 | - | 1 |
9-32630646-A-T | c.4932T>A | p.A1644= | Synonymous | 1/1 | - | 1 |
9-32630647-G-A | c.4931C>T | p.A1644V | Missense | 1/1 | - | 1 |
9-32630647-G-C | c.4931C>G | p.A1644G | Missense | 1/1 | - | 1 |
9-32630648-C-A | c.4930G>T | p.A1644S | Missense | 1/1 | - | 1 |
9-32630650-G-C | c.4928C>G | p.A1643G | Missense | 1/1 | - | 2 |
9-32630654-C-A | c.4924G>T | p.E1642* | Nonsense | 1/1 | - | 1 |
9-32630662-G-A | c.4916C>T | p.T1639I | Missense | 1/1 | - | 1 |
9-32630662-G-C | c.4916C>G | p.T1639R | Missense | 1/1 | - | 1 |
9-32630665-C-T | c.4913G>A | p.C1638Y | Missense | 1/1 | - | 1 |
9-32630670-A-G | c.4908T>C | p.D1636= | Synonymous | 1/1 | - | 1 |
9-32630671-T-C | c.4907A>G | p.D1636G | Missense | 1/1 | - | 1 |
9-32630672-C-T | c.4906G>A | p.D1636N | Missense | 1/1 | - | 6 |
9-32630674-T-C | c.4904A>G | p.K1635R | Missense | 1/1 | - | 1 |
9-32630678-C-G | c.4900G>C | p.E1634Q | Missense | 1/1 | - | 1 |
9-32630678-C-T | c.4900G>A | p.E1634K | Missense | 1/1 | - | 1 |
9-32630679-A-C | c.4899T>G | p.L1633= | Synonymous | 1/1 | - | 3 |
9-32630679-A-G | c.4899T>C | p.L1633= | Synonymous | 1/1 | - | 3 |
9-32630679-A-T | c.4899T>A | p.L1633= | Synonymous | 1/1 | - | 4 |
9-32630682-T-A | c.4896A>T | p.Q1632H | Missense | 1/1 | - | 1 |
9-32630682-T-G | c.4896A>C | p.Q1632H | Missense | 1/1 | - | 1 |
9-32630684-G-A | c.4894C>T | p.Q1632* | Nonsense | 1/1 | - | 1 |
9-32630686-G-A | c.4892C>T | p.T1631I | Missense | 1/1 | - | 1 |
9-32630688-C-T | c.4890G>A | p.L1630= | Synonymous | 1/1 | - | 2 |
9-32630690-A-G | c.4888T>C | p.L1630= | Synonymous | 1/1 | - | 3 |
9-32630692-T-C | c.4886A>G | p.H1629R | Missense | 1/1 | - | 2 |
9-32630694-C-T | c.4884G>A | p.E1628= | Synonymous | 1/1 | - | 1 |
9-32630699-C-A | c.4879G>T | p.D1627Y | Missense | 1/1 | - | 2 |
9-32630701-T-C | c.4877A>G | p.Y1626C | Missense | 1/1 | - | 1 |
9-32630707-G-A | c.4871C>T | p.T1624I | Missense | 1/1 | - | 2 |
9-32630708-T-G | c.4870A>C | p.T1624P | Missense | 1/1 | - | 1 |
9-32630711-T-C | c.4867A>G | p.I1623V | Missense | 1/1 | - | 2 |
9-32630718-G-A | c.4860C>T | p.Y1620= | Synonymous | 1/1 | - | 1 |
9-32630724-G-A | c.4854C>T | p.I1618= | Synonymous | 1/1 | - | 1 |
9-32630724-G-T | c.4854C>A | p.I1618= | Synonymous | 1/1 | - | 1 |
9-32630728-T-C | c.4850A>G | p.N1617S | Missense | 1/1 | - | 1 |
9-32630729-T-C | c.4849A>G | p.N1617D | Missense | 1/1 | - | 1 |
9-32630730-C-A | c.4848G>T | p.V1616= | Synonymous | 1/1 | - | 1 |
9-32630730-C-G | c.4848G>C | p.V1616= | Synonymous | 1/1 | - | 1 |
9-32630730-C-T | c.4848G>A | p.V1616= | Synonymous | 1/1 | - | 1 |
9-32630732-C-A | c.4846G>T | p.V1616L | Missense | 1/1 | - | 1 |
9-32630732-C-G | c.4846G>C | p.V1616L | Missense | 1/1 | - | 1 |
9-32630736-C-T | c.4842G>A | p.E1614= | Synonymous | 1/1 | - | 1 |
9-32630741-G-A | c.4837C>T | p.Q1613* | Nonsense | 1/1 | - | 1 |
9-32630743-G-T | c.4835C>A | p.A1612D | Missense | 1/1 | - | 2 |
9-32630745-A-G | c.4833T>C | p.T1611= | Synonymous | 1/1 | - | 1 |
9-32630746-G-C | c.4832C>G | p.T1611S | Missense | 1/1 | - | 1 |
9-32630746-G-T | c.4832C>A | p.T1611N | Missense | 1/1 | - | 1 |
9-32630747-T-A | c.4831A>T | p.T1611S | Missense | 1/1 | - | 1 |
9-32630747-T-C | c.4831A>G | p.T1611A | Missense | 1/1 | - | 1 |
9-32630752-G-A | c.4826C>T | p.T1609I | Missense | 1/1 | - | 1 |
9-32630759-G-A | c.4819C>T | p.Q1607* | Nonsense | 1/1 | - | 1 |
9-32630763-C-A | c.4815G>T | p.E1605D | Missense | 1/1 | - | 1 |
9-32630763-C-G | c.4815G>C | p.E1605D | Missense | 1/1 | - | 1 |
9-32630763-C-T | c.4815G>A | p.E1605= | Synonymous | 1/1 | - | 1 |
9-32630765-C-G | c.4813G>C | p.E1605Q | Missense | 1/1 | - | 1 |
9-32630765-C-T | c.4813G>A | p.E1605K | Missense | 1/1 | - | 1 |
9-32630770-C-T | c.4808G>A | p.G1603E | Missense | 1/1 | - | 1 |
9-32630778-C-T | c.4800G>A | p.K1600= | Synonymous | 1/1 | - | 2 |
9-32630779-T-G | c.4799A>C | p.K1600T | Missense | 1/1 | - | 2 |
9-32630782-A-C | c.4796T>G | p.V1599G | Missense | 1/1 | - | 2 |
9-32630784-A-G | c.4794T>C | p.S1598= | Synonymous | 1/1 | - | 1 |
9-32630793-A-C | c.4785T>G | p.L1595= | Synonymous | 1/1 | - | 1 |
9-32630793-A-G | c.4785T>C | p.L1595= | Synonymous | 1/1 | - | 1 |
9-32630793-A-T | c.4785T>A | p.L1595= | Synonymous | 1/1 | - | 1 |
9-32630795-G-T | c.4783C>A | p.L1595I | Missense | 1/1 | - | 1 |
9-32630799-AAG-CAT | c.4777_4779delinsATG | p.L1593M | Missense | 1/1 | - | 1 |
9-32630799-A-G | c.4779T>C | p.L1593= | Synonymous | 1/1 | - | 4 |
9-32630806-A-G | c.4772T>C | p.V1591A | Missense | 1/1 | - | 1 |
9-32630810-C-T | c.4768G>A | p.D1590N | Missense | 1/1 | - | 8 |
9-32630813-C-T | c.4765G>A | p.D1589N | Missense | 1/1 | - | 1 |
9-32630820-A-G | c.4758T>C | p.S1586= | Synonymous | 1/1 | - | 1 |
9-32630826-C-T | c.4752G>A | p.R1584= | Synonymous | 1/1 | - | 1 |
9-32630827-C-A | c.4751G>T | p.R1584L | Missense | 1/1 | - | 6 |
9-32630828-G-A | c.4750C>T | p.R1584W | Missense | 1/1 | - | 2 |
9-32630829-A-G | c.4749T>C | p.S1583= | Synonymous | 1/1 | - | 3 |
9-32630830-C-A | c.4748G>T | p.S1583I | Missense | 1/1 | - | 1 |
9-32630834-G-A | c.4744C>T | p.Q1582* | Nonsense | 1/1 | - | 1 |
9-32630834-G-C | c.4744C>G | p.Q1582E | Missense | 1/1 | - | 1 |
9-32630838-C-A | c.4740G>T | p.K1580N | Missense | 1/1 | - | 2 |
9-32630838-C-G | c.4740G>C | p.K1580N | Missense | 1/1 | - | 1 |
9-32630843-G-T | c.4735C>A | p.H1579N | Missense | 1/1 | - | 3 |
9-32630844-C-A | c.4734G>T | p.K1578N | Missense | 1/1 | - | 2 |
9-32630844-C-G | c.4734G>C | p.K1578N | Missense | 1/1 | - | 3 |
9-32630844-C-T | c.4734G>A | p.K1578= | Synonymous | 1/1 | - | 1 |
9-32630850-G-A | c.4728C>T | p.I1576= | Synonymous | 1/1 | - | 1 |
9-32630856-C-A | c.4722G>T | p.K1574N | Missense | 1/1 | - | 1 |
9-32630856-C-G | c.4722G>C | p.K1574N | Missense | 1/1 | - | 1 |
9-32630861-G-A | c.4717C>T | p.R1573C | Missense | 1/1 | - | 2 |
9-32630868-C-A | c.4710G>T | p.E1570D | Missense | 1/1 | - | 3 |
9-32630868-C-G | c.4710G>C | p.E1570D | Missense | 1/1 | - | 2 |
9-32630872-A-G | c.4706T>C | p.L1569S | Missense | 1/1 | - | 1 |
9-32630874-A-C | c.4704T>G | p.D1568E | Missense | 1/1 | - | 1 |
9-32630874-A-T | c.4704T>A | p.D1568E | Missense | 1/1 | - | 2 |
9-32630879-C-T | c.4699G>A | p.V1567M | Missense | 1/1 | - | 2 |
9-32630881-G-A | c.4697C>T | p.P1566L | Missense | 1/1 | - | 3 |
9-32630882-G-A | c.4696C>T | p.P1566S | Missense | 1/1 | - | 1 |
9-32630882-G-C | c.4696C>G | p.P1566A | Missense | 1/1 | - | 1 |
9-32630893-CA-C | c.4685del | p.M1562Rfs*8 | Frameshift | 1/1 | - | 1 |
9-32630894-T-C | c.4684A>G | p.M1562V | Missense | 1/1 | - | 2 |
9-32630901-A-G | c.4677T>C | p.Y1559= | Synonymous | 1/1 | - | 1 |
9-32630904-A-T | c.4674T>A | p.D1558E | Missense | 1/1 | - | 2 |
9-32630906-C-A | c.4672G>T | p.D1558Y | Missense | 1/1 | - | 1 |
9-32630908-G-A | c.4670C>T | p.P1557L | Missense | 1/1 | - | 1 |
9-32630909-G-A | c.4669C>T | p.P1557S | Missense | 1/1 | - | 4 |
9-32630910-A-C | c.4668T>G | p.V1556= | Synonymous | 1/1 | - | 1 |
9-32630910-A-G | c.4668T>C | p.V1556= | Synonymous | 1/1 | - | 1 |
9-32630910-A-T | c.4668T>A | p.V1556= | Synonymous | 1/1 | - | 1 |
9-32630913-A-T | c.4665T>A | p.F1555L | Missense | 1/1 | - | 1 |
9-32630914-A-T | c.4664T>A | p.F1555Y | Missense | 1/1 | - | 3 |
9-32630916-C-A | c.4662G>T | p.K1554N | Missense | 1/1 | - | 2 |
9-32630916-C-G | c.4662G>C | p.K1554N | Missense | 1/1 | - | 1 |
9-32630916-C-T | c.4662G>A | p.K1554= | Synonymous | 1/1 | - | 1 |
9-32630919-C-A | c.4659G>T | p.K1553N | Missense | 1/1 | - | 1 |
9-32630919-C-G | c.4659G>C | p.K1553N | Missense | 1/1 | - | 1 |
9-32630920-T-C | c.4658A>G | p.K1553R | Missense | 1/1 | - | 1 |
9-32630920-T-G | c.4658A>C | p.K1553T | Missense | 1/1 | - | 1 |
9-32630923-T-C | c.4655A>G | p.N1552S | Missense | 1/1 | - | 3 |
9-32630930-G-T | c.4648C>A | p.P1550T | Missense | 1/1 | - | 1 |
9-32630932-T-C | c.4646A>G | p.H1549R | Missense | 1/1 | - | 1 |
9-32630933-G-A | c.4645C>T | p.H1549Y | Missense | 1/1 | - | 5 |
9-32630935-T-A | c.4643A>T | p.H1548L | Missense | 1/1 | - | 1 |
9-32630942-G-A | c.4636C>T | p.P1546S | Missense | 1/1 | - | 2 |
9-32630947-G-A | c.4631C>T | p.S1544F | Missense | 1/1 | - | 2 |
9-32630947-GA-AG | c.4630_4631delinsCT | p.S1544L | Missense | 1/1 | - | 1 |
9-32630947-G-C | c.4631C>G | p.S1544C | Missense | 1/1 | - | 1 |
9-32630947-G-T | c.4631C>A | p.S1544Y | Missense | 1/1 | - | 4 |
9-32630951-C-G | c.4627G>C | p.D1543H | Missense | 1/1 | - | 1 |
9-32630952-T-A | c.4626A>T | p.P1542= | Synonymous | 1/1 | - | 1 |
9-32630952-T-C | c.4626A>G | p.P1542= | Synonymous | 1/1 | - | 1 |
9-32630952-T-G | c.4626A>C | p.P1542= | Synonymous | 1/1 | - | 1 |
9-32630953-G-A | c.4625C>T | p.P1542L | Missense | 1/1 | - | 1 |
9-32630954-G-A | c.4624C>T | p.P1542S | Missense | 1/1 | - | 7 |
9-32630960-C-T | c.4618G>A | p.A1540T | Missense | 1/1 | - | 4 |
9-32630964-C-A | c.4614G>T | p.M1538I | Missense | 1/1 | - | 3 |
9-32630964-C-G | c.4614G>C | p.M1538I | Missense | 1/1 | - | 2 |
9-32630964-C-T | c.4614G>A | p.M1538I | Missense | 1/1 | - | 2 |
9-32630965-AT-A | c.4612del | p.M1538* | Frameshift | 1/1 | - | 1 |
9-32630970-C-A | c.4608G>T | p.Q1536H | Missense | 1/1 | - | 3 |
9-32630970-C-G | c.4608G>C | p.Q1536H | Missense | 1/1 | - | 2 |
9-32630973-G-C | c.4605C>G | p.T1535= | Synonymous | 1/1 | - | 1 |
9-32630977-A-G | c.4601T>C | p.V1534A | Missense | 1/1 | - | 3 |
9-32630986-T-G | c.4592A>C | p.D1531A | Missense | 1/1 | - | 1 |
9-32630994-G-A | c.4584C>T | p.F1528= | Synonymous | 1/1 | - | 1 |
9-32630996-A-C | c.4582T>G | p.F1528V | Missense | 1/1 | - | 1 |
9-32631004-G-A | c.4574C>T | p.A1525V | Missense | 1/1 | - | 1 |
9-32631008-C-A | c.4570G>T | p.V1524L | Missense | 1/1 | - | 1 |
9-32631011-G-C | c.4567C>G | p.Q1523E | Missense | 1/1 | - | 2 |
9-32631014-C-A | c.4564G>T | p.D1522Y | Missense | 1/1 | - | 2 |
9-32631017-C-T | c.4561G>A | p.D1521N | Missense | 1/1 | - | 1 |
9-32631023-C-T | c.4555G>A | p.D1519N | Missense | 1/1 | - | 2 |
9-32631024-C-G | c.4554G>C | p.L1518= | Synonymous | 1/1 | - | 1 |
9-32631027-C-T | c.4551G>A | p.L1517= | Synonymous | 1/1 | - | 1 |
9-32631029-A-C | c.4549T>G | p.L1517V | Missense | 1/1 | - | 1 |
9-32631031-G-A | c.4547C>T | p.P1516L | Missense | 1/1 | - | 1 |
9-32631032-G-A | c.4546C>T | p.P1516S | Missense | 1/1 | - | 1 |
9-32631033-G-T | c.4545C>A | p.N1515K | Missense | 1/1 | - | 1 |
9-32631035-T-C | c.4543A>G | p.N1515D | Missense | 1/1 | - | 1 |
9-32631036-G-A | c.4542C>T | p.I1514= | Synonymous | 1/1 | - | 1 |
9-32631036-G-C | c.4542C>G | p.I1514M | Missense | 1/1 | - | 1 |
9-32631036-G-T | c.4542C>A | p.I1514= | Synonymous | 1/1 | - | 1 |
9-32631036-GAT-G | c.4540_4541del | p.I1514Qfs*6 | Frameshift | 1/1 | - | 2 |
9-32631041-C-T | c.4537G>A | p.A1513T | Missense | 1/1 | - | 1 |
9-32631045-C-T | c.4533G>A | p.E1511= | Synonymous | 1/1 | - | 2 |
9-32631046-T-C | c.4532A>G | p.E1511G | Missense | 1/1 | - | 1 |
9-32631047-C-G | c.4531G>C | p.E1511Q | Missense | 1/1 | - | 2 |
9-32631048-T-A | c.4530A>T | p.L1510F | Missense | 1/1 | - | 1 |
9-32631048-T-G | c.4530A>C | p.L1510F | Missense | 1/1 | - | 1 |
9-32631052-C-A | c.4526G>T | p.R1509L | Missense | 1/1 | - | 1 |
9-32631052-C-T | c.4526G>A | p.R1509H | Missense | 1/1 | - | 4 |
9-32631053-G-A | c.4525C>T | p.R1509C | Missense | 1/1 | - | 2 |
9-32631056-C-T | c.4522G>A | p.A1508T | Missense | 1/1 | - | 2 |
9-32631065-C-T | c.4513G>A | p.D1505N | Missense | 1/1 | - | 1 |
9-32631070-T-A | c.4508A>T | p.K1503I | Missense | 1/1 | - | 2 |
9-32631074-C-A | c.4504G>T | p.E1502* | Nonsense | 1/1 | - | 1 |
9-32631078-A-C | c.4500T>G | p.L1500= | Synonymous | 1/1 | - | 1 |
9-32631080-G-A | c.4498C>T | p.L1500F | Missense | 1/1 | - | 6 |
9-32631082-T-A | c.4496A>T | p.K1499I | Missense | 1/1 | - | 1 |
9-32631084-T-A | c.4494A>T | p.E1498D | Missense | 1/1 | - | 1 |
9-32631084-T-G | c.4494A>C | p.E1498D | Missense | 1/1 | - | 1 |
9-32631086-C-T | c.4492G>A | p.E1498K | Missense | 1/1 | - | 1 |
9-32631089-C-G | c.4489G>C | p.D1497H | Missense | 1/1 | - | 1 |
9-32631089-C-T | c.4489G>A | p.D1497N | Missense | 1/1 | - | 1 |
9-32631090-A-C | c.4488T>G | p.C1496W | Missense | 1/1 | - | 1 |
9-32631091-C-G | c.4487G>C | p.C1496S | Missense | 1/1 | - | 4 |
9-32631092-A-T | c.4486T>A | p.C1496S | Missense | 1/1 | - | 5 |
9-32631093-G-C | c.4485C>G | p.L1495= | Synonymous | 1/1 | - | 1 |
9-32631097-TC-T | c.4480del | p.D1494Ifs*14 | Frameshift | 1/1 | - | 1 |
9-32631100-A-G | c.4478T>C | p.L1493P | Missense | 1/1 | - | 1 |
9-32631110-G-A | c.4468C>T | p.Q1490* | Nonsense | 1/1 | - | 1 |
9-32631110-G-T | c.4468C>A | p.Q1490K | Missense | 1/1 | - | 1 |
9-32631114-G-A | c.4464C>T | p.I1488= | Synonymous | 1/1 | - | 3 |
9-32631114-G-T | c.4464C>A | p.I1488= | Synonymous | 1/1 | - | 4 |
9-32631117-C-A | c.4461G>T | p.Q1487H | Missense | 1/1 | - | 2 |
9-32631117-C-G | c.4461G>C | p.Q1487H | Missense | 1/1 | - | 1 |
9-32631119-G-C | c.4459C>G | p.Q1487E | Missense | 1/1 | - | 1 |
9-32631127-G-A | c.4451C>T | p.S1484L | Missense | 1/1 | - | 3 |
9-32631127-G-C | c.4451C>G | p.S1484* | Nonsense | 1/1 | - | 1 |
9-32631127-G-T | c.4451C>A | p.S1484* | Nonsense | 1/1 | - | 1 |
9-32631128-A-G | c.4450T>C | p.S1484P | Missense | 1/1 | - | 1 |
9-32631137-G-A | c.4441C>T | p.P1481S | Missense | 1/1 | - | 4 |
9-32631138-C-A | c.4440G>T | p.G1480= | Synonymous | 1/1 | - | 2 |
9-32631138-C-G | c.4440G>C | p.G1480= | Synonymous | 1/1 | - | 2 |
9-32631138-C-T | c.4440G>A | p.G1480= | Synonymous | 1/1 | - | 3 |
9-32631139-C-T | c.4439G>A | p.G1480E | Missense | 1/1 | - | 4 |
9-32631142-T-C | c.4436A>G | p.N1479S | Missense | 1/1 | - | 1 |
9-32631147-G-A | c.4431C>T | p.T1477= | Synonymous | 1/1 | - | 1 |
9-32631147-G-C | c.4431C>G | p.T1477= | Synonymous | 1/1 | - | 1 |
9-32631147-G-T | c.4431C>A | p.T1477= | Synonymous | 1/1 | - | 1 |
9-32631149-T-C | c.4429A>G | p.T1477A | Missense | 1/1 | - | 1 |
9-32631150-C-A | c.4428G>T | p.A1476= | Synonymous | 1/1 | - | 1 |
9-32631150-C-G | c.4428G>C | p.A1476= | Synonymous | 1/1 | - | 1 |
9-32631150-C-T | c.4428G>A | p.A1476= | Synonymous | 1/1 | - | 5 |
9-32631151-G-A | c.4427C>T | p.A1476V | Missense | 1/1 | - | 3 |
9-32631151-G-T | c.4427C>A | p.A1476E | Missense | 1/1 | - | 1 |
9-32631164-C-A | c.4414G>T | p.V1472L | Missense | 1/1 | - | 2 |
9-32631164-C-G | c.4414G>C | p.V1472L | Missense | 1/1 | - | 1 |
9-32631166-AT-A | c.4411del | p.I1471Lfs*2 | Frameshift | 1/1 | - | 1 |
9-32631173-C-G | c.4405G>C | p.E1469Q | Missense | 1/1 | - | 1 |
9-32631176-G-A | c.4402C>T | p.L1468= | Synonymous | 1/1 | - | 1 |
9-32631180-C-T | c.4398G>A | p.E1466= | Synonymous | 1/1 | - | 1 |
9-32631184-C-T | c.4394G>A | p.R1465K | Missense | 1/1 | - | 2 |
9-32631189-C-T | c.4389G>A | p.E1463= | Synonymous | 1/1 | - | 3 |
9-32631191-C-T | c.4387G>A | p.E1463K | Missense | 1/1 | - | 1 |
9-32631192-T-G | c.4386A>C | p.E1462D | Missense | 1/1 | - | 1 |
9-32631196-C-T | c.4382G>A | p.R1461Q | Missense | 1/1 | - | 1 |
9-32631197-G-A | c.4381C>T | p.R1461W | Missense | 1/1 | - | 2 |
9-32631202-G-A | c.4376C>T | p.P1459L | Missense | 1/1 | - | 7 |
9-32631202-G-T | c.4376C>A | p.P1459Q | Missense | 1/1 | - | 2 |
9-32631214-T-G | c.4364A>C | p.K1455T | Missense | 1/1 | - | 2 |
9-32631217-C-T | c.4361G>A | p.R1454H | Missense | 1/1 | - | 2 |
9-32631218-G-A | c.4360C>T | p.R1454C | Missense | 1/1 | - | 8 |
9-32631220-A-C | c.4358T>G | p.V1453G | Missense | 1/1 | - | 1 |
9-32631226-T-C | c.4352A>G | p.E1451G | Missense | 1/1 | - | 2 |
9-32631226-T-G | c.4352A>C | p.E1451A | Missense | 1/1 | - | 1 |
9-32631227-C-A | c.4351G>T | p.E1451* | Nonsense | 1/1 | - | 1 |
9-32631227-C-G | c.4351G>C | p.E1451Q | Missense | 1/1 | - | 1 |
9-32631229-C-A | c.4349G>T | p.R1450L | Missense | 1/1 | - | 1 |
9-32631229-C-T | c.4349G>A | p.R1450H | Missense | 1/1 | - | 4 |
9-32631230-G-A | c.4348C>T | p.R1450C | Missense | 1/1 | - | 6 |
9-32631231-G-A | c.4347C>T | p.L1449= | Synonymous | 1/1 | - | 1 |
9-32631231-GAG-CAT | c.4345_4347delinsATG | p.L1449M | Missense | 1/1 | - | 1 |
9-32631233-G-A | c.4345C>T | p.L1449F | Missense | 1/1 | - | 1 |
9-32631236-T-A | c.4342A>T | p.T1448S | Missense | 1/1 | - | 1 |
9-32631239-G-A | c.4339C>T | p.Q1447* | Nonsense | 1/1 | - | 1 |
9-32631242-G-T | c.4336C>A | p.L1446I | Missense | 1/1 | - | 1 |
9-32631253-C-A | c.4325G>T | p.R1442L | Missense | 1/1 | - | 1 |
9-32631254-G-A | c.4324C>T | p.R1442W | Missense | 1/1 | - | 1 |
9-32631254-G-C | c.4324C>G | p.R1442G | Missense | 1/1 | - | 2 |
9-32631258-G-A | c.4320C>T | p.I1440= | Synonymous | 1/1 | - | 3 |
9-32631258-G-T | c.4320C>A | p.I1440= | Synonymous | 1/1 | - | 2 |
9-32631261-G-A | c.4317C>T | p.I1439= | Synonymous | 1/1 | - | 1 |
9-32631261-G-T | c.4317C>A | p.I1439= | Synonymous | 1/1 | - | 1 |
9-32631262-A-G | c.4316T>C | p.I1439T | Missense | 1/1 | - | 1 |
9-32631263-T-A | c.4315A>T | p.I1439F | Missense | 1/1 | - | 2 |
9-32631270-G-C | c.4308C>G | p.Y1436* | Nonsense | 1/1 | - | 1 |
9-32631272-A-G | c.4306T>C | p.Y1436H | Missense | 1/1 | - | 1 |
9-32631273-G-C | c.4305C>G | p.D1435E | Missense | 1/1 | - | 1 |
9-32631273-G-T | c.4305C>A | p.D1435E | Missense | 1/1 | - | 1 |
9-32631281-C-T | c.4297G>A | p.V1433I | Missense | 1/1 | - | 1 |
9-32631283-A-G | c.4295T>C | p.V1432A | Missense | 1/1 | - | 2 |
9-32631283-A-T | c.4295T>A | p.V1432D | Missense | 1/1 | - | 2 |
9-32631284-C-A | c.4294G>T | p.V1432F | Missense | 1/1 | - | 1 |
9-32631290-C-T | c.4288G>A | p.A1430T | Missense | 1/1 | - | 1 |
9-32631291-A-G | c.4287T>C | p.N1429= | Synonymous | 1/1 | - | 1 |
9-32631294-G-A | c.4284C>T | p.V1428= | Synonymous | 1/1 | - | 1 |
9-32631294-G-C | c.4284C>G | p.V1428= | Synonymous | 1/1 | - | 1 |
9-32631294-G-T | c.4284C>A | p.V1428= | Synonymous | 1/1 | - | 2 |
9-32631299-G-A | c.4279C>T | p.P1427S | Missense | 1/1 | - | 3 |
9-32631299-G-T | c.4279C>A | p.P1427T | Missense | 1/1 | - | 5 |
9-32631306-G-T | c.4272C>A | p.F1424L | Missense | 1/1 | - | 3 |
9-32631306-G-C | c.4272C>G | p.F1424L | Missense | 1/1 | - | 2 |
9-32631308-A-G | c.4270T>C | p.F1424L | Missense | 1/1 | - | 2 |
9-32631311-G-A | c.4267C>T | p.P1423S | Missense | 1/1 | - | 3 |
9-32631311-G-T | c.4267C>A | p.P1423T | Missense | 1/1 | - | 1 |
9-32631312-G-C | c.4266C>G | p.H1422Q | Missense | 1/1 | - | 3 |
9-32631312-G-T | c.4266C>A | p.H1422Q | Missense | 1/1 | - | 1 |
9-32631313-T-C | c.4265A>G | p.H1422R | Missense | 1/1 | - | 1 |
9-32631314-G-A | c.4264C>T | p.H1422Y | Missense | 1/1 | - | 2 |
9-32631317-T-C | c.4261A>G | p.T1421A | Missense | 1/1 | - | 1 |
9-32631323-G-A | c.4255C>T | p.P1419S | Missense | 1/1 | - | 1 |
9-32631323-GA-G | c.4254del | p.P1419Qfs*15 | Frameshift | 1/1 | - | 1 |
9-32631326-G-A | c.4252C>T | p.L1418F | Missense | 1/1 | - | 3 |
9-32631329-C-A | c.4249G>T | p.D1417Y | Missense | 1/1 | - | 1 |
9-32631329-C-T | c.4249G>A | p.D1417N | Missense | 1/1 | - | 4 |
9-32631331-C-A | c.4247G>T | p.R1416I | Missense | 1/1 | - | 1 |
9-32631331-C-T | c.4247G>A | p.R1416K | Missense | 1/1 | - | 2 |
9-32631333-C-G | c.4245G>C | p.M1415I | Missense | 1/1 | - | 2 |
9-32631333-C-T | c.4245G>A | p.M1415I | Missense | 1/1 | - | 3 |
9-32631337-T-A | c.4241A>T | p.D1414V | Missense | 1/1 | - | 1 |
9-32631342-G-T | c.4236C>A | p.I1412= | Synonymous | 1/1 | - | 1 |
9-32631347-T-A | c.4231A>T | p.I1411F | Missense | 1/1 | - | 1 |
9-32631347-T-C | c.4231A>G | p.I1411V | Missense | 1/1 | - | 1 |
9-32631357-G-A | c.4221C>T | p.I1407= | Synonymous | 1/1 | - | 1 |
9-32631360-G-A | c.4218C>T | p.S1406= | Synonymous | 1/1 | - | 4 |
9-32631365-A-T | c.4213T>A | p.S1405T | Missense | 1/1 | - | 1 |
9-32631366-C-A | c.4212G>T | p.L1404= | Synonymous | 1/1 | - | 1 |
9-32631366-C-G | c.4212G>C | p.L1404= | Synonymous | 1/1 | - | 1 |
9-32631366-C-T | c.4212G>A | p.L1404= | Synonymous | 1/1 | - | 1 |
9-32631368-G-A | c.4210C>T | p.L1404= | Synonymous | 1/1 | - | 1 |
9-32631369-C-A | c.4209G>T | p.T1403= | Synonymous | 1/1 | - | 5 |
9-32631369-C-G | c.4209G>C | p.T1403= | Synonymous | 1/1 | - | 12 |
9-32631369-C-T | c.4209G>A | p.T1403= | Synonymous | 1/1 | - | 13 |
9-32631370-G-A | c.4208C>T | p.T1403M | Missense | 1/1 | - | 9 |
9-32631373-A-G | c.4205T>C | p.V1402A | Missense | 1/1 | - | 1 |
9-32631374-C-T | c.4204G>A | p.V1402M | Missense | 1/1 | - | 6 |
9-32631377-T-C | c.4201A>G | p.M1401V | Missense | 1/1 | - | 3 |
9-32631386-T-C | c.4192A>G | p.T1398A | Missense | 1/1 | - | 1 |
9-32631388-C-T | c.4190G>A | p.R1397H | Missense | 1/1 | - | 12 |
9-32631389-G-A | c.4189C>T | p.R1397C | Missense | 1/1 | - | 7 |
9-32631391-C-T | c.4187G>A | p.R1396H | Missense | 1/1 | - | 3 |
9-32631392-G-A | c.4186C>T | p.R1396C | Missense | 1/1 | - | 5 |
9-32631394-C-T | c.4184G>A | p.R1395Q | Missense | 1/1 | - | 2 |
9-32631395-G-A | c.4183C>T | p.R1395* | Nonsense | 1/1 | - | 6 |
9-32631398-G-C | c.4180C>G | p.H1394D | Missense | 1/1 | - | 1 |
9-32631402-G-A | c.4176C>T | p.S1392= | Synonymous | 1/1 | - | 4 |
9-32631402-G-C | c.4176C>G | p.S1392= | Synonymous | 1/1 | - | 2 |
9-32631402-G-T | c.4176C>A | p.S1392= | Synonymous | 1/1 | - | 2 |
9-32631403-G-T | c.4175C>A | p.S1392Y | Missense | 1/1 | - | 3 |
9-32631406-T-G | c.4172A>C | p.K1391T | Missense | 1/1 | - | 2 |
9-32631409-T-C | c.4169A>G | p.H1390R | Missense | 1/1 | - | 1 |
9-32631412-G-A | c.4166C>T | p.P1389L | Missense | 1/1 | - | 1 |
9-32631413-G-A | c.4165C>T | p.P1389S | Missense | 1/1 | - | 1 |
9-32631414-T-C | c.4164A>G | p.I1388M | Missense | 1/1 | - | 1 |
9-32631415-A-C | c.4163T>G | p.I1388R | Missense | 1/1 | - | 1 |
9-32631420-C-A | c.4158G>T | p.L1386F | Missense | 1/1 | - | 1 |
9-32631420-C-G | c.4158G>C | p.L1386F | Missense | 1/1 | - | 1 |
9-32631421-A-G | c.4157T>C | p.L1386S | Missense | 1/1 | - | 1 |
9-32631427-T-C | c.4151A>G | p.D1384G | Missense | 1/1 | - | 1 |
9-32631432-A-C | c.4146T>G | p.H1382Q | Missense | 1/1 | - | 1 |
9-32631432-A-G | c.4146T>C | p.H1382= | Synonymous | 1/1 | - | 1 |
9-32631434-G-A | c.4144C>T | p.H1382Y | Missense | 1/1 | - | 2 |
9-32631439-G-A | c.4139C>T | p.T1380I | Missense | 1/1 | - | 1 |
9-32631439-G-C | c.4139C>G | p.T1380S | Missense | 1/1 | - | 1 |
9-32631440-T-A | c.4138A>T | p.T1380S | Missense | 1/1 | - | 1 |
9-32631445-C-G | c.4133G>C | p.G1378A | Missense | 1/1 | - | 1 |
9-32631446-C-G | c.4132G>C | p.G1378R | Missense | 1/1 | - | 1 |
9-32631446-C-T | c.4132G>A | p.G1378R | Missense | 1/1 | - | 1 |
9-32631452-G-A | c.4126C>T | p.R1376* | Nonsense | 1/1 | - | 5 |
9-32631454-C-T | c.4124G>A | p.R1375Q | Missense | 1/1 | - | 2 |
9-32631455-G-A | c.4123C>T | p.R1375W | Missense | 1/1 | - | 4 |
9-32631458-T-A | c.4120A>T | p.K1374* | Nonsense | 1/1 | - | 1 |
9-32631459-C-A | c.4119G>T | p.K1373N | Missense | 1/1 | - | 2 |
9-32631459-C-G | c.4119G>C | p.K1373N | Missense | 1/1 | - | 1 |
9-32631464-T-C | c.4114A>G | p.K1372E | Missense | 1/1 | - | 1 |
9-32631466-G-A | c.4112C>T | p.P1371L | Missense | 1/1 | - | 3 |
9-32631469-G-A | c.4109C>T | p.P1370L | Missense | 1/1 | - | 3 |
9-32631470-G-A | c.4108C>T | p.P1370S | Missense | 1/1 | - | 2 |
9-32631474-C-T | c.4104G>A | p.Q1368= | Synonymous | 1/1 | - | 1 |
9-32631484-G-A | c.4094C>T | p.P1365L | Missense | 1/1 | - | 3 |
9-32631485-G-A | c.4093C>T | p.P1365S | Missense | 1/1 | - | 10 |
9-32631486-A-C | c.4092T>G | p.F1364L | Missense | 1/1 | - | 1 |
9-32631486-A-T | c.4092T>A | p.F1364L | Missense | 1/1 | - | 1 |
9-32631488-A-G | c.4090T>C | p.F1364L | Missense | 1/1 | - | 1 |
9-32631492-G-A | c.4086C>T | p.L1362= | Synonymous | 1/1 | - | 3 |
9-32631492-G-C | c.4086C>G | p.L1362= | Synonymous | 1/1 | - | 4 |
9-32631492-G-T | c.4086C>A | p.L1362= | Synonymous | 1/1 | - | 3 |
9-32631499-A-G | c.4079T>C | p.L1360P | Missense | 1/1 | - | 1 |
9-32631502-G-A | c.4076C>T | p.S1359F | Missense | 1/1 | - | 2 |
9-32631509-T-A | c.4069A>T | p.R1357* | Nonsense | 1/1 | - | 1 |
9-32631511-C-A | c.4067G>T | p.R1356L | Missense | 1/1 | - | 1 |
9-32631511-C-T | c.4067G>A | p.R1356H | Missense | 1/1 | - | 7 |
9-32631512-G-A | c.4066C>T | p.R1356C | Missense | 1/1 | - | 9 |
9-32631514-A-G | c.4064T>C | p.V1355A | Missense | 1/1 | - | 1 |
9-32631518-C-T | c.4060G>A | p.E1354K | Missense | 1/1 | - | 2 |
9-32631522-C-A | c.4056G>T | p.V1352= | Synonymous | 1/1 | - | 1 |
9-32631523-A-G | c.4055T>C | p.V1352A | Missense | 1/1 | - | 1 |
9-32631530-C-G | c.4048G>C | p.E1350Q | Missense | 1/1 | - | 1 |
9-32631536-G-T | c.4042C>A | p.L1348I | Missense | 1/1 | - | 2 |
9-32631543-C-A | c.4035G>T | p.G1345= | Synonymous | 1/1 | - | 1 |
9-32631543-C-G | c.4035G>C | p.G1345= | Synonymous | 1/1 | - | 1 |
9-32631543-C-T | c.4035G>A | p.G1345= | Synonymous | 1/1 | - | 1 |
9-32631545-C-G | c.4033G>C | p.G1345R | Missense | 1/1 | - | 1 |
9-32631545-C-T | c.4033G>A | p.G1345R | Missense | 1/1 | - | 2 |
9-32631546-G-A | c.4032C>T | p.F1344= | Synonymous | 1/1 | - | 5 |
9-32631547-A-T | c.4031T>A | p.F1344Y | Missense | 1/1 | - | 1 |
9-32631552-A-G | c.4026T>C | p.I1342= | Synonymous | 1/1 | - | 1 |
9-32631552-A-T | c.4026T>A | p.I1342= | Synonymous | 1/1 | - | 1 |
9-32631559-G-C | c.4019C>G | p.T1340S | Missense | 1/1 | - | 1 |
9-32631560-T-A | c.4018A>T | p.T1340S | Missense | 1/1 | - | 1 |
9-32631562-C-G | c.4016G>C | p.G1339A | Missense | 1/1 | - | 1 |
9-32631562-C-T | c.4016G>A | p.G1339E | Missense | 1/1 | - | 1 |
9-32631568-A-G | c.4010T>C | p.V1337A | Missense | 1/1 | - | 1 |
9-32631577-A-G | c.4001T>C | p.L1334P | Missense | 1/1 | - | 1 |
9-32631578-G-C | c.4000C>G | p.L1334V | Missense | 1/1 | - | 1 |
9-32631581-C-A | c.3997G>T | p.E1333* | Nonsense | 1/1 | - | 1 |
9-32631588-A-G | c.3990T>C | p.D1330= | Synonymous | 1/1 | - | 1 |
9-32631590-C-T | c.3988G>A | p.D1330N | Missense | 1/1 | - | 3 |
9-32631591-A-G | c.3987T>C | p.N1329= | Synonymous | 1/1 | - | 2 |
9-32631596-G-T | c.3982C>A | p.H1328N | Missense | 1/1 | - | 1 |
9-32631597-A-C | c.3981T>G | p.I1327M | Missense | 1/1 | - | 1 |
9-32631598-A-C | c.3980T>G | p.I1327S | Missense | 1/1 | - | 1 |
9-32631600-G-C | c.3978C>G | p.V1326= | Synonymous | 1/1 | - | 1 |
9-32631606-C-A | c.3972G>T | p.K1324N | Missense | 1/1 | - | 1 |
9-32631606-C-T | c.3972G>A | p.K1324= | Synonymous | 1/1 | - | 1 |
9-32631613-A-C | c.3965T>G | p.L1322W | Missense | 1/1 | - | 1 |
9-32631615-C-T | c.3963G>A | p.E1321= | Synonymous | 1/1 | - | 1 |
9-32631616-T-A | c.3962A>T | p.E1321V | Missense | 1/1 | - | 1 |
9-32631621-C-T | c.3957G>A | p.E1319= | Synonymous | 1/1 | - | 1 |
9-32631623-C-G | c.3955G>C | p.E1319Q | Missense | 1/1 | - | 2 |
9-32631624-C-A | c.3954G>T | p.Q1318H | Missense | 1/1 | - | 1 |
9-32631624-C-G | c.3954G>C | p.Q1318H | Missense | 1/1 | - | 2 |
9-32631626-G-A | c.3952C>T | p.Q1318* | Nonsense | 1/1 | - | 1 |
9-32631627-C-T | c.3951G>A | p.E1317= | Synonymous | 1/1 | - | 2 |
9-32631631-T-A | c.3947A>T | p.E1316V | Missense | 1/1 | - | 4 |
9-32631632-C-G | c.3946G>C | p.E1316Q | Missense | 1/1 | - | 1 |
9-32631636-C-G | c.3942G>C | p.M1314I | Missense | 1/1 | - | 1 |
9-32631637-A-G | c.3941T>C | p.M1314T | Missense | 1/1 | - | 1 |
9-32631643-A-G | c.3935T>C | p.V1312A | Missense | 1/1 | - | 1 |
9-32631644-C-G | c.3934G>C | p.V1312L | Missense | 1/1 | - | 1 |
9-32631646-G-A | c.3932C>T | p.P1311L | Missense | 1/1 | - | 1 |
9-32631648-T-A | c.3930A>T | p.K1310N | Missense | 1/1 | - | 1 |
9-32631648-T-G | c.3930A>C | p.K1310N | Missense | 1/1 | - | 1 |
9-32631651-C-A | c.3927G>T | p.S1309= | Synonymous | 1/1 | - | 1 |
9-32631651-C-G | c.3927G>C | p.S1309= | Synonymous | 1/1 | - | 1 |
9-32631651-C-T | c.3927G>A | p.S1309= | Synonymous | 1/1 | - | 6 |
9-32631652-G-A | c.3926C>T | p.S1309L | Missense | 1/1 | - | 5 |
9-32631660-C-A | c.3918G>T | p.V1306= | Synonymous | 1/1 | - | 1 |
9-32631661-A-G | c.3917T>C | p.V1306A | Missense | 1/1 | - | 1 |
9-32631662-C-T | c.3916G>A | p.V1306M | Missense | 1/1 | - | 3 |
9-32631667-G-A | c.3911C>T | p.T1304I | Missense | 1/1 | - | 3 |
9-32631668-T-C | c.3910A>G | p.T1304A | Missense | 1/1 | - | 1 |
9-32631675-A-C | c.3903T>G | p.Y1301* | Nonsense | 1/1 | - | 1 |
9-32631675-A-T | c.3903T>A | p.Y1301* | Nonsense | 1/1 | - | 1 |
9-32631678-G-A | c.3900C>T | p.L1300= | Synonymous | 1/1 | - | 4 |
9-32631680-G-A | c.3898C>T | p.L1300F | Missense | 1/1 | - | 2 |
9-32631680-G-T | c.3898C>A | p.L1300I | Missense | 1/1 | - | 1 |
9-32631681-G-A | c.3897C>T | p.P1299= | Synonymous | 1/1 | - | 1 |
9-32631683-G-A | c.3895C>T | p.P1299S | Missense | 1/1 | - | 1 |
9-32631684-G-A | c.3894C>T | p.C1298= | Synonymous | 1/1 | - | 1 |
9-32631685-C-G | c.3893G>C | p.C1298S | Missense | 1/1 | - | 1 |
9-32631686-A-T | c.3892T>A | p.C1298S | Missense | 1/1 | - | 1 |
9-32631687-G-T | c.3891C>A | p.F1297L | Missense | 1/1 | - | 1 |
9-32631691-T-G | c.3887A>C | p.K1296T | Missense | 1/1 | - | 1 |
9-32631693-G-C | c.3885C>G | p.N1295K | Missense | 1/1 | - | 1 |
9-32631693-G-T | c.3885C>A | p.N1295K | Missense | 1/1 | - | 1 |
9-32631701-T-A | c.3877A>T | p.R1293W | Missense | 1/1 | - | 2 |
9-32631703-A-C | c.3875T>G | p.M1292R | Missense | 1/1 | - | 2 |
9-32631704-T-C | c.3874A>G | p.M1292V | Missense | 1/1 | - | 3 |
9-32631706-AT-A | c.3872del | p.H1291Lfs*2 | Frameshift | 1/1 | - | 2 |
9-32631707-G-A | c.3871C>T | p.H1291Y | Missense | 1/1 | - | 1 |
9-32631709-C-A | c.3869G>T | p.G1290V | Missense | 1/1 | - | 2 |
9-32631710-C-A | c.3868G>T | p.G1290* | Nonsense | 1/1 | - | 2 |
9-32631710-C-G | c.3868G>C | p.G1290R | Missense | 1/1 | - | 3 |
9-32631710-C-T | c.3868G>A | p.G1290R | Missense | 1/1 | - | 4 |
9-32631715-G-T | c.3863C>A | p.A1288D | Missense | 1/1 | - | 1 |
9-32631714-GGCACCACAT-G | c.3855_3863del | p.C1286_A1288del | InFrameDeletion | 1/1 | - | 1 |
9-32631719-C-A | c.3859G>T | p.G1287C | Missense | 1/1 | - | 1 |
9-32631721-C-T | c.3857G>A | p.C1286Y | Missense | 1/1 | - | 2 |
9-32631724-G-A | c.3854C>T | p.A1285V | Missense | 1/1 | - | 1 |
9-32631724-G-C | c.3854C>G | p.A1285G | Missense | 1/1 | - | 1 |
9-32631724-GC-AT | c.3853_3854delinsAT | p.A1285I | Missense | 1/1 | - | 1 |
9-32631725-C-T | c.3853G>A | p.A1285T | Missense | 1/1 | - | 3 |
9-32631730-CA-GT | c.3847_3848delinsAC | p.C1283T | Missense | 1/1 | - | 1 |
9-32631735-C-T | c.3843G>A | p.L1281= | Synonymous | 1/1 | - | 4 |
9-32631748-G-A | c.3830C>T | p.P1277L | Missense | 1/1 | - | 4 |
9-32631751-C-T | c.3827G>A | p.R1276H | Missense | 1/1 | - | 2 |
9-32631752-G-A | c.3826C>T | p.R1276C | Missense | 1/1 | - | 3 |
9-32631754-T-G | c.3824A>C | p.E1275A | Missense | 1/1 | - | 1 |
9-32631755-C-G | c.3823G>C | p.E1275Q | Missense | 1/1 | - | 1 |
9-32631765-C-T | c.3813G>A | p.K1271= | Synonymous | 1/1 | - | 4 |
9-32631767-TTGGGCTTCTTCTC-T | c.3799_3811del | p.E1267Rfs*3 | Frameshift | 1/1 | - | 1 |
9-32631770-G-A | c.3808C>T | p.P1270S | Missense | 1/1 | - | 1 |
9-32631774-C-T | c.3804G>A | p.K1268= | Synonymous | 1/1 | - | 1 |
9-32631777-C-T | c.3801G>A | p.E1267= | Synonymous | 1/1 | - | 1 |
9-32631781-G-A | c.3797C>T | p.P1266L | Missense | 1/1 | - | 1 |
9-32631781-G-C | c.3797C>G | p.P1266R | Missense | 1/1 | - | 6 |
9-32631782-G-A | c.3796C>T | p.P1266S | Missense | 1/1 | - | 1 |
9-32631784-G-A | c.3794C>T | p.P1265L | Missense | 1/1 | - | 6 |
9-32631793-A-G | c.3785T>C | p.L1262P | Missense | 1/1 | - | 1 |
9-32631796-T-A | c.3782A>T | p.K1261M | Missense | 1/1 | - | 2 |
9-32631796-T-C | c.3782A>G | p.K1261R | Missense | 1/1 | - | 1 |
9-32631803-T-C | c.3775A>G | p.K1259E | Missense | 1/1 | - | 3 |
9-32631803-T-G | c.3775A>C | p.K1259Q | Missense | 1/1 | - | 1 |
9-32631804-T-G | c.3774A>C | p.E1258D | Missense | 1/1 | - | 1 |
9-32631806-C-T | c.3772G>A | p.E1258K | Missense | 1/1 | - | 10 |
9-32631807-C-T | c.3771G>A | p.Q1257= | Synonymous | 1/1 | - | 1 |
9-32631809-TGGTTCCGCTTAAG-T | c.3757_3769del | p.L1253Rfs*17 | Frameshift | 1/1 | - | 1 |
9-32631814-C-T | c.3764G>A | p.R1255Q | Missense | 1/1 | - | 9 |
9-32631815-G-A | c.3763C>T | p.R1255W | Missense | 1/1 | - | 4 |
9-32631821-G-A | c.3757C>T | p.L1253F | Missense | 1/1 | - | 2 |
9-32631821-G-C | c.3757C>G | p.L1253V | Missense | 1/1 | - | 1 |
9-32631823-C-T | c.3755G>A | p.R1252Q | Missense | 1/1 | - | 2 |
9-32631822-C-A | c.3756G>T | p.R1252= | Synonymous | 1/1 | - | 1 |
9-32631822-C-G | c.3756G>C | p.R1252= | Synonymous | 1/1 | - | 1 |
9-32631822-C-T | c.3756G>A | p.R1252= | Synonymous | 1/1 | - | 1 |
9-32631824-G-A | c.3754C>T | p.R1252W | Missense | 1/1 | - | 15 |
9-32631824-G-T | c.3754C>A | p.R1252= | Synonymous | 1/1 | - | 1 |
9-32631829-A-G | c.3749T>C | p.L1250P | Missense | 1/1 | - | 1 |
9-32631832-T-C | c.3746A>G | p.Q1249R | Missense | 1/1 | - | 1 |
9-32631833-G-T | c.3745C>A | p.Q1249K | Missense | 1/1 | - | 1 |
9-32631843-C-T | c.3735G>A | p.R1245= | Synonymous | 1/1 | - | 2 |
9-32631847-C-T | c.3731G>A | p.R1244Q | Missense | 1/1 | - | 7 |
9-32631846-C-A | c.3732G>T | p.R1244= | Synonymous | 1/1 | - | 3 |
9-32631846-C-G | c.3732G>C | p.R1244= | Synonymous | 1/1 | - | 2 |
9-32631846-C-T | c.3732G>A | p.R1244= | Synonymous | 1/1 | - | 2 |
9-32631848-G-A | c.3730C>T | p.R1244W | Missense | 1/1 | - | 5 |
9-32631848-G-T | c.3730C>A | p.R1244= | Synonymous | 1/1 | - | 2 |
9-32631849-C-T | c.3729G>A | p.R1243= | Synonymous | 1/1 | - | 1 |
9-32631850-CG-TT | c.3727_3728delinsAA | p.R1243K | Missense | 1/1 | - | 1 |
9-32631850-C-T | c.3728G>A | p.R1243Q | Missense | 1/1 | - | 2 |
9-32631851-G-A | c.3727C>T | p.R1243W | Missense | 1/1 | - | 3 |
9-32631859-C-T | c.3719G>A | p.R1240Q | Missense | 1/1 | - | 2 |
9-32631864-C-T | c.3714G>A | p.E1238= | Synonymous | 1/1 | - | 1 |
9-32631866-C-G | c.3712G>C | p.E1238Q | Missense | 1/1 | - | 1 |
9-32631866-C-T | c.3712G>A | p.E1238K | Missense | 1/1 | - | 1 |
9-32631869-C-G | c.3709G>C | p.E1237Q | Missense | 1/1 | - | 6 |
9-32631869-C-T | c.3709G>A | p.E1237K | Missense | 1/1 | - | 1 |
9-32631870-C-T | c.3708G>A | p.R1236= | Synonymous | 1/1 | - | 2 |
9-32631871-C-A | c.3707G>T | p.R1236L | Missense | 1/1 | - | 3 |
9-32631872-G-A | c.3706C>T | p.R1236W | Missense | 1/1 | - | 2 |
9-32631877-T-C | c.3701A>G | p.K1234R | Missense | 1/1 | - | 1 |
9-32631878-T-G | c.3700A>C | p.K1234Q | Missense | 1/1 | - | 2 |
9-32631881-C-T | c.3697G>A | p.E1233K | Missense | 1/1 | - | 3 |
9-32631884-CA-C | c.3693del | p.F1231Lfs*20 | Frameshift | 1/1 | - | 2 |
9-32631889-A-G | c.3689T>C | p.L1230P | Missense | 1/1 | - | 1 |
9-32631898-T-G | c.3680A>C | p.K1227T | Missense | 1/1 | - | 1 |
9-32631899-T-G | c.3679A>C | p.K1227Q | Missense | 1/1 | - | 1 |
9-32631900-T-G | c.3678A>C | p.Q1226H | Missense | 1/1 | - | 1 |
9-32631901-T-C | c.3677A>G | p.Q1226R | Missense | 1/1 | - | 2 |
9-32631902-G-T | c.3676C>A | p.Q1226K | Missense | 1/1 | - | 1 |
9-32631906-G-A | c.3672C>T | p.F1224= | Synonymous | 1/1 | - | 4 |
9-32631908-A-T | c.3670T>A | p.F1224I | Missense | 1/1 | - | 1 |
9-32631910-T-A | c.3668A>T | p.K1223I | Missense | 1/1 | - | 3 |
9-32631911-T-C | c.3667A>G | p.K1223E | Missense | 1/1 | - | 2 |
9-32631912-C-A | c.3666G>T | p.E1222D | Missense | 1/1 | - | 1 |
9-32631912-C-G | c.3666G>C | p.E1222D | Missense | 1/1 | - | 2 |
9-32631912-C-T | c.3666G>A | p.E1222= | Synonymous | 1/1 | - | 2 |
9-32631913-T-C | c.3665A>G | p.E1222G | Missense | 1/1 | - | 1 |
9-32631914-C-T | c.3664G>A | p.E1222K | Missense | 1/1 | - | 4 |
9-32631917-C-A | c.3661G>T | p.D1221Y | Missense | 1/1 | - | 1 |
9-32631918-T-A | c.3660A>T | p.K1220N | Missense | 1/1 | - | 1 |
9-32631919-T-G | c.3659A>C | p.K1220T | Missense | 1/1 | - | 1 |
9-32631925-G-T | c.3653C>A | p.T1218N | Missense | 1/1 | - | 2 |
9-32631928-C-T | c.3650G>A | p.R1217Q | Missense | 1/1 | - | 1 |
9-32631929-G-A | c.3649C>T | p.R1217W | Missense | 1/1 | - | 1 |
9-32631931-A-G | c.3647T>C | p.I1216T | Missense | 1/1 | - | 1 |
9-32631933-G-A | c.3645C>T | p.R1215= | Synonymous | 1/1 | - | 1 |
9-32631933-G-C | c.3645C>G | p.R1215= | Synonymous | 1/1 | - | 1 |
9-32631933-G-T | c.3645C>A | p.R1215= | Synonymous | 1/1 | - | 1 |
9-32631934-C-T | c.3644G>A | p.R1215H | Missense | 1/1 | - | 4 |
9-32631934-GC-G | c.3644del | p.R1215Pfs*36 | Frameshift | 1/1 | - | 1 |
9-32631935-G-A | c.3643C>T | p.R1215C | Missense | 1/1 | - | 4 |
9-32631937-A-C | c.3641T>G | p.V1214G | Missense | 1/1 | - | 1 |
9-32631937-A-G | c.3641T>C | p.V1214A | Missense | 1/1 | - | 3 |
9-32631938-C-T | c.3640G>A | p.V1214M | Missense | 1/1 | - | 1 |
9-32631943-G-A | c.3635C>T | p.A1212V | Missense | 1/1 | - | 1 |
9-32631944-C-T | c.3634G>A | p.A1212T | Missense | 1/1 | - | 1 |
9-32631951-G-A | c.3627C>T | p.V1209= | Synonymous | 1/1 | - | 2 |
9-32631952-A-G | c.3626T>C | p.V1209A | Missense | 1/1 | - | 1 |
9-32631954-A-G | c.3624T>C | p.A1208= | Synonymous | 1/1 | - | 1 |
9-32631964-C-T | c.3614G>A | p.R1205Q | Missense | 1/1 | - | 19 |
9-32631965-G-A | c.3613C>T | p.R1205* | Nonsense | 1/1 | - | 5 |
9-32631965-G-C | c.3613C>G | p.R1205G | Missense | 1/1 | - | 1 |
9-32631966-G-A | c.3612C>T | p.V1204= | Synonymous | 1/1 | - | 6 |
9-32631970-G-A | c.3608C>T | p.T1203I | Missense | 1/1 | - | 1 |
9-32631974-C-G | c.3604G>C | p.E1202Q | Missense | 1/1 | - | 1 |
9-32631974-C-T | c.3604G>A | p.E1202K | Missense | 1/1 | - | 2 |
9-32631979-C-T | c.3599G>A | p.R1200H | Missense | 1/1 | - | 1 |
9-32631980-G-A | c.3598C>T | p.R1200C | Missense | 1/1 | - | 7 |
9-32631985-T-C | c.3593A>G | p.Y1198C | Missense | 1/1 | - | 1 |
9-32631994-C-A | c.3584G>T | p.G1195V | Missense | 1/1 | - | 2 |
9-32632006-C-T | c.3572G>A | p.R1191Q | Missense | 1/1 | - | 5 |
9-32632007-G-A | c.3571C>T | p.R1191* | Nonsense | 1/1 | - | 3 |
9-32632008-A-C | c.3570T>G | p.F1190L | Missense | 1/1 | - | 1 |
9-32632008-A-T | c.3570T>A | p.F1190L | Missense | 1/1 | - | 1 |
9-32632010-A-G | c.3568T>C | p.F1190L | Missense | 1/1 | - | 1 |
9-32632013-T-A | c.3565A>T | p.T1189S | Missense | 1/1 | - | 4 |
9-32632015-C-T | c.3563G>A | p.R1188H | Missense | 1/1 | - | 5 |
9-32632016-G-A | c.3562C>T | p.R1188C | Missense | 1/1 | - | 5 |
9-32632021-A-G | c.3557T>C | p.I1186T | Missense | 1/1 | - | 1 |
9-32632022-T-C | c.3556A>G | p.I1186V | Missense | 1/1 | - | 1 |
9-32632024-T-C | c.3554A>G | p.K1185R | Missense | 1/1 | - | 1 |
9-32632025-T-G | c.3553A>C | p.K1185Q | Missense | 1/1 | - | 1 |
9-32632026-G-A | c.3552C>T | p.L1184= | Synonymous | 1/1 | - | 1 |
9-32632027-A-G | c.3551T>C | p.L1184P | Missense | 1/1 | - | 1 |
9-32632028-G-A | c.3550C>T | p.L1184F | Missense | 1/1 | - | 1 |
9-32632030-CA-GT | c.3547_3548delinsAC | p.C1183T | Missense | 1/1 | - | 1 |
9-32632032-G-T | c.3546C>A | p.H1182Q | Missense | 1/1 | - | 1 |
9-32632038-A-C | c.3540T>G | p.T1180= | Synonymous | 1/1 | - | 1 |
9-32632038-A-G | c.3540T>C | p.T1180= | Synonymous | 1/1 | - | 2 |
9-32632038-A-T | c.3540T>A | p.T1180= | Synonymous | 1/1 | - | 1 |
9-32632042-G-A | c.3536C>T | p.A1179V | Missense | 1/1 | - | 3 |
9-32632045-G-A | c.3533C>T | p.S1178F | Missense | 1/1 | - | 1 |
9-32632055-G-C | c.3523C>G | p.L1175V | Missense | 1/1 | - | 1 |
9-32632056-G-A | c.3522C>T | p.S1174= | Synonymous | 1/1 | - | 1 |
9-32632063-A-G | c.3515T>C | p.M1172T | Missense | 1/1 | - | 1 |
9-32632067-A-G | c.3511T>C | p.S1171P | Missense | 1/1 | - | 1 |
9-32632069-G-A | c.3509C>T | p.A1170V | Missense | 1/1 | - | 1 |
9-32632072-G-A | c.3506C>T | p.T1169I | Missense | 1/1 | - | 3 |
9-32632076-C-A | c.3502G>T | p.V1168F | Missense | 1/1 | - | 2 |
9-32632076-C-T | c.3502G>A | p.V1168I | Missense | 1/1 | - | 1 |
9-32632079-C-T | c.3499G>A | p.D1167N | Missense | 1/1 | - | 1 |
9-32632082-C-A | c.3496G>T | p.D1166Y | Missense | 1/1 | - | 1 |
9-32632082-C-T | c.3496G>A | p.D1166N | Missense | 1/1 | - | 1 |
9-32632084-C-T | c.3494G>A | p.R1165K | Missense | 1/1 | - | 6 |
9-32632096-C-A | c.3482G>T | p.G1161V | Missense | 1/1 | - | 1 |
9-32632096-C-T | c.3482G>A | p.G1161E | Missense | 1/1 | - | 1 |
9-32632101-T-A | c.3477A>T | p.A1159= | Synonymous | 1/1 | - | 1 |
9-32632101-T-C | c.3477A>G | p.A1159= | Synonymous | 1/1 | - | 1 |
9-32632101-T-G | c.3477A>C | p.A1159= | Synonymous | 1/1 | - | 1 |
9-32632103-C-A | c.3475G>T | p.A1159S | Missense | 1/1 | - | 1 |
9-32632110-G-A | c.3468C>T | p.G1156= | Synonymous | 1/1 | - | 1 |
9-32632111-C-T | c.3467G>A | p.G1156D | Missense | 1/1 | - | 1 |
9-32632112-C-A | c.3466G>T | p.G1156C | Missense | 1/1 | - | 1 |
9-32632117-A-G | c.3461T>C | p.V1154A | Missense | 1/1 | - | 1 |
9-32632119-C-A | c.3459G>T | p.L1153= | Synonymous | 1/1 | - | 1 |
9-32632119-C-G | c.3459G>C | p.L1153= | Synonymous | 1/1 | - | 1 |
9-32632119-C-T | c.3459G>A | p.L1153= | Synonymous | 1/1 | - | 1 |
9-32632121-G-A | c.3457C>T | p.L1153= | Synonymous | 1/1 | - | 1 |
9-32632121-G-T | c.3457C>A | p.L1153M | Missense | 1/1 | - | 1 |
9-32632122-T-A | c.3456A>T | p.L1152= | Synonymous | 1/1 | - | 1 |
9-32632122-T-C | c.3456A>G | p.L1152= | Synonymous | 1/1 | - | 1 |
9-32632122-T-G | c.3456A>C | p.L1152= | Synonymous | 1/1 | - | 1 |
9-32632124-G-A | c.3454C>T | p.L1152= | Synonymous | 1/1 | - | 1 |
9-32632125-C-A | c.3453G>T | p.M1151I | Missense | 1/1 | - | 1 |
9-32632125-C-G | c.3453G>C | p.M1151I | Missense | 1/1 | - | 1 |
9-32632125-C-T | c.3453G>A | p.M1151I | Missense | 1/1 | - | 1 |
9-32632132-C-A | c.3446G>T | p.R1149L | Missense | 1/1 | - | 2 |
9-32632132-C-T | c.3446G>A | p.R1149Q | Missense | 1/1 | - | 2 |
9-32632131-C-A | c.3447G>T | p.R1149= | Synonymous | 1/1 | - | 1 |
9-32632131-C-G | c.3447G>C | p.R1149= | Synonymous | 1/1 | - | 1 |
9-32632131-C-T | c.3447G>A | p.R1149= | Synonymous | 1/1 | - | 2 |
9-32632133-G-A | c.3445C>T | p.R1149W | Missense | 1/1 | - | 1 |
9-32632133-G-T | c.3445C>A | p.R1149= | Synonymous | 1/1 | - | 1 |
9-32632136-G-C | c.3442C>G | p.L1148V | Missense | 1/1 | - | 3 |
9-32632139-C-T | c.3439G>A | p.E1147K | Missense | 1/1 | - | 1 |
9-32632140-C-T | c.3438G>A | p.K1146= | Synonymous | 1/1 | - | 2 |
9-32632141-T-A | c.3437A>T | p.K1146M | Missense | 1/1 | - | 2 |
9-32632144-C-T | c.3434G>A | p.R1145Q | Missense | 1/1 | - | 4 |
9-32632145-G-A | c.3433C>T | p.R1145W | Missense | 1/1 | - | 3 |
9-32632146-C-T | c.3432G>A | p.E1144= | Synonymous | 1/1 | - | 2 |
9-32632148-C-T | c.3430G>A | p.E1144K | Missense | 1/1 | - | 1 |
9-32632151-G-T | c.3427C>A | p.Q1143K | Missense | 1/1 | - | 1 |
9-32632163-TC-T | c.3415del | p.E1139Nfs*16 | Frameshift | 1/1 | - | 1 |
9-32632165-C-A | c.3413G>T | p.R1138L | Missense | 1/1 | - | 1 |
9-32632166-G-A | c.3412C>T | p.R1138C | Missense | 1/1 | - | 4 |
9-32632166-G-T | c.3412C>A | p.R1138S | Missense | 1/1 | - | 1 |
9-32632170-CAG-AAA | c.3406_3408delinsTTT | p.L1136F | Missense | 1/1 | - | 1 |
9-32632174-T-C | c.3404A>G | p.Q1135R | Missense | 1/1 | - | 1 |
9-32632175-G-A | c.3403C>T | p.Q1135* | Nonsense | 1/1 | - | 2 |
9-32632175-G-C | c.3403C>G | p.Q1135E | Missense | 1/1 | - | 8 |
9-32632175-G-T | c.3403C>A | p.Q1135K | Missense | 1/1 | - | 1 |
9-32632180-C-A | c.3398G>T | p.S1133I | Missense | 1/1 | - | 1 |
9-32632181-T-C | c.3397A>G | p.S1133G | Missense | 1/1 | - | 1 |
9-32632187-T-C | c.3391A>G | p.K1131E | Missense | 1/1 | - | 7 |
9-32632189-T-C | c.3389A>G | p.K1130R | Missense | 1/1 | - | 1 |
9-32632197-C-A | c.3381G>T | p.L1127F | Missense | 1/1 | - | 2 |
9-32632197-C-G | c.3381G>C | p.L1127F | Missense | 1/1 | - | 2 |
9-32632197-C-T | c.3381G>A | p.L1127= | Synonymous | 1/1 | - | 1 |
9-32632206-C-A | c.3372G>T | p.E1124D | Missense | 1/1 | - | 2 |
9-32632206-C-G | c.3372G>C | p.E1124D | Missense | 1/1 | - | 2 |
9-32632206-C-T | c.3372G>A | p.E1124= | Synonymous | 1/1 | - | 1 |
9-32632208-C-A | c.3370G>T | p.E1124* | Nonsense | 1/1 | - | 2 |
9-32632208-C-G | c.3370G>C | p.E1124Q | Missense | 1/1 | - | 1 |
9-32632209-A-G | c.3369T>C | p.I1123= | Synonymous | 1/1 | - | 1 |
9-32632213-T-C | c.3365A>G | p.N1122S | Missense | 1/1 | - | 1 |
9-32632215-C-A | c.3363G>T | p.K1121N | Missense | 1/1 | - | 3 |
9-32632215-C-G | c.3363G>C | p.K1121N | Missense | 1/1 | - | 1 |
9-32632215-C-T | c.3363G>A | p.K1121= | Synonymous | 1/1 | - | 2 |
9-32632219-C-T | c.3359G>A | p.G1120E | Missense | 1/1 | - | 2 |
9-32632220-C-T | c.3358G>A | p.G1120R | Missense | 1/1 | - | 1 |
9-32632221-C-A | c.3357G>T | p.M1119I | Missense | 1/1 | - | 1 |
9-32632221-C-G | c.3357G>C | p.M1119I | Missense | 1/1 | - | 1 |
9-32632221-C-T | c.3357G>A | p.M1119I | Missense | 1/1 | - | 3 |
9-32632222-A-T | c.3356T>A | p.M1119K | Missense | 1/1 | - | 1 |
9-32632226-C-T | c.3352G>A | p.E1118K | Missense | 1/1 | - | 4 |
9-32632227-T-A | c.3351A>T | p.E1117D | Missense | 1/1 | - | 1 |
9-32632227-T-G | c.3351A>C | p.E1117D | Missense | 1/1 | - | 1 |
9-32632229-C-T | c.3349G>A | p.E1117K | Missense | 1/1 | - | 1 |
9-32632236-A-C | c.3342T>G | p.S1114R | Missense | 1/1 | - | 2 |
9-32632236-A-T | c.3342T>A | p.S1114R | Missense | 1/1 | - | 1 |
9-32632238-T-G | c.3340A>C | p.S1114R | Missense | 1/1 | - | 1 |
9-32632241-C-T | c.3337G>A | p.D1113N | Missense | 1/1 | - | 2 |
9-32632244-C-T | c.3334G>A | p.E1112K | Missense | 1/1 | - | 1 |
9-32632246-G-C | c.3332C>G | p.A1111G | Missense | 1/1 | - | 1 |
9-32632247-C-A | c.3331G>T | p.A1111S | Missense | 1/1 | - | 1 |
9-32632247-C-T | c.3331G>A | p.A1111T | Missense | 1/1 | - | 1 |
9-32632249-G-C | c.3329C>G | p.S1110* | Nonsense | 1/1 | - | 1 |
9-32632249-G-T | c.3329C>A | p.S1110* | Nonsense | 1/1 | - | 1 |
9-32632251-G-C | c.3327C>G | p.I1109M | Missense | 1/1 | - | 1 |
9-32632252-A-C | c.3326T>G | p.I1109S | Missense | 1/1 | - | 1 |
9-32632255-C-T | c.3323G>A | p.S1108N | Missense | 1/1 | - | 1 |
9-32632257-G-C | c.3321C>G | p.D1107E | Missense | 1/1 | - | 1 |
9-32632257-G-T | c.3321C>A | p.D1107E | Missense | 1/1 | - | 1 |
9-32632259-C-G | c.3319G>C | p.D1107H | Missense | 1/1 | - | 1 |
9-32632259-C-T | c.3319G>A | p.D1107N | Missense | 1/1 | - | 1 |
9-32632261-G-A | c.3317C>T | p.T1106I | Missense | 1/1 | - | 1 |
9-32632263-G-A | c.3315C>T | p.D1105= | Synonymous | 1/1 | - | 1 |
9-32632265-C-A | c.3313G>T | p.D1105Y | Missense | 1/1 | - | 1 |
9-32632263-GTCAGTTGATAAGACCTCAGTTGATGACAGAACCTTGT-G | c.3278_3314del | p.N1093Tfs*50 | Frameshift | 1/1 | - | 1 |
9-32632266-A-C | c.3312T>G | p.T1104= | Synonymous | 1/1 | - | 1 |
9-32632270-G-A | c.3308C>T | p.S1103L | Missense | 1/1 | - | 1 |
9-32632270-G-C | c.3308C>G | p.S1103* | Nonsense | 1/1 | - | 3 |
9-32632270-G-T | c.3308C>A | p.S1103* | Nonsense | 1/1 | - | 3 |
9-32632271-A-G | c.3307T>C | p.S1103P | Missense | 1/1 | - | 1 |
9-32632272-T-C | c.3306A>G | p.L1102= | Synonymous | 1/1 | - | 1 |
9-32632274-A-G | c.3304T>C | p.L1102= | Synonymous | 1/1 | - | 1 |
9-32632285-G-A | c.3293C>T | p.S1098L | Missense | 1/1 | - | 1 |
9-32632286-A-T | c.3292T>A | p.S1098T | Missense | 1/1 | - | 4 |
9-32632290-C-T | c.3288G>A | p.L1096= | Synonymous | 1/1 | - | 3 |
9-32632298-T-C | c.3280A>G | p.K1094E | Missense | 1/1 | - | 1 |
9-32632299-G-C | c.3279C>G | p.N1093K | Missense | 1/1 | - | 1 |
9-32632299-G-T | c.3279C>A | p.N1093K | Missense | 1/1 | - | 1 |
9-32632302-C-A | c.3276G>T | p.Q1092H | Missense | 1/1 | - | 3 |
9-32632302-C-G | c.3276G>C | p.Q1092H | Missense | 1/1 | - | 1 |
9-32632302-C-T | c.3276G>A | p.Q1092= | Synonymous | 1/1 | - | 2 |
9-32632306-A-G | c.3272T>C | p.L1091P | Missense | 1/1 | - | 1 |
9-32632307-G-A | c.3271C>T | p.L1091= | Synonymous | 1/1 | - | 5 |
9-32632317-A-C | c.3261T>G | p.R1087= | Synonymous | 1/1 | - | 1 |
9-32632317-A-G | c.3261T>C | p.R1087= | Synonymous | 1/1 | - | 1 |
9-32632317-A-T | c.3261T>A | p.R1087= | Synonymous | 1/1 | - | 1 |
9-32632318-C-T | c.3260G>A | p.R1087H | Missense | 1/1 | - | 1 |
9-32632319-G-A | c.3259C>T | p.R1087C | Missense | 1/1 | - | 1 |
9-32632321-T-C | c.3257A>G | p.Q1086R | Missense | 1/1 | - | 1 |
9-32632322-G-A | c.3256C>T | p.Q1086* | Nonsense | 1/1 | - | 1 |
9-32632323-A-G | c.3255T>C | p.C1085= | Synonymous | 1/1 | - | 1 |
9-32632328-C-T | c.3250G>A | p.E1084K | Missense | 1/1 | - | 2 |
9-32632333-T-C | c.3245A>G | p.K1082R | Missense | 1/1 | - | 1 |
9-32632339-C-T | c.3239G>A | p.R1080H | Missense | 1/1 | - | 5 |
9-32632340-G-A | c.3238C>T | p.R1080C | Missense | 1/1 | - | 6 |
9-32632340-G-T | c.3238C>A | p.R1080S | Missense | 1/1 | - | 3 |
9-32632342-CT-C | c.3236del | p.E1079Gfs*76 | Frameshift | 1/1 | - | 1 |
9-32632343-TC-T | c.3235del | p.E1079Sfs*76 | Frameshift | 1/1 | - | 1 |
9-32632346-G-C | c.3232C>G | p.Q1078E | Missense | 1/1 | - | 1 |
9-32632348-T-C | c.3230A>G | p.H1077R | Missense | 1/1 | - | 3 |
9-32632352-C-T | c.3226G>A | p.E1076K | Missense | 1/1 | - | 1 |
9-32632356-C-A | c.3222G>T | p.V1074= | Synonymous | 1/1 | - | 1 |
9-32632356-C-G | c.3222G>C | p.V1074= | Synonymous | 1/1 | - | 1 |
9-32632356-C-T | c.3222G>A | p.V1074= | Synonymous | 1/1 | - | 1 |
9-32632360-G-A | c.3218C>T | p.S1073F | Missense | 1/1 | - | 1 |
9-32632360-G-T | c.3218C>A | p.S1073Y | Missense | 1/1 | - | 1 |
9-32632361-A-T | c.3217T>A | p.S1073T | Missense | 1/1 | - | 1 |
9-32632362-A-C | c.3216T>G | p.F1072L | Missense | 1/1 | - | 1 |
9-32632362-A-T | c.3216T>A | p.F1072L | Missense | 1/1 | - | 1 |
9-32632364-A-C | c.3214T>G | p.F1072V | Missense | 1/1 | - | 1 |
9-32632364-A-G | c.3214T>C | p.F1072L | Missense | 1/1 | - | 1 |
9-32632374-ACG-TCA | c.3202_3204delinsTGA | p.R1068* | Nonsense | 1/1 | - | 1 |
9-32632375-C-T | c.3203G>A | p.R1068H | Missense | 1/1 | - | 1 |
9-32632376-G-A | c.3202C>T | p.R1068C | Missense | 1/1 | - | 3 |
9-32632378-G-A | c.3200C>T | p.A1067V | Missense | 1/1 | - | 1 |
9-32632379-C-A | c.3199G>T | p.A1067S | Missense | 1/1 | - | 1 |
9-32632385-T-A | c.3193A>T | p.K1065* | Nonsense | 1/1 | - | 1 |
9-32632387-C-A | c.3191G>T | p.S1064I | Missense | 1/1 | - | 1 |
9-32632393-G-A | c.3185C>T | p.P1062L | Missense | 1/1 | - | 1 |
9-32632395-C-T | c.3183G>A | p.G1061= | Synonymous | 1/1 | - | 1 |
9-32632397-C-G | c.3181G>C | p.G1061R | Missense | 1/1 | - | 1 |
9-32632397-C-T | c.3181G>A | p.G1061R | Missense | 1/1 | - | 1 |
9-32632405-G-A | c.3173C>T | p.S1058F | Missense | 1/1 | - | 1 |
9-32632408-T-C | c.3170A>G | p.H1057R | Missense | 1/1 | - | 4 |
9-32632409-G-A | c.3169C>T | p.H1057Y | Missense | 1/1 | - | 5 |
9-32632409-G-C | c.3169C>G | p.H1057D | Missense | 1/1 | - | 1 |
9-32632409-G-T | c.3169C>A | p.H1057N | Missense | 1/1 | - | 1 |
9-32632411-G-A | c.3167C>T | p.A1056V | Missense | 1/1 | - | 1 |
9-32632411-G-T | c.3167C>A | p.A1056D | Missense | 1/1 | - | 1 |
9-32632413-C-T | c.3165G>A | p.Q1055= | Synonymous | 1/1 | - | 2 |
9-32632416-T-A | c.3162A>T | p.E1054D | Missense | 1/1 | - | 2 |
9-32632416-T-G | c.3162A>C | p.E1054D | Missense | 1/1 | - | 1 |
9-32632418-C-T | c.3160G>A | p.E1054K | Missense | 1/1 | - | 9 |
9-32632420-G-A | c.3158C>T | p.T1053I | Missense | 1/1 | - | 1 |
9-32632428-TG-CA | c.3149_3150inv | p.T1050M | Missense | 1/1 | - | 1 |
9-32632429-G-A | c.3149C>T | p.T1050I | Missense | 1/1 | - | 1 |
9-32632431-GCG-CCA | c.3145_3147delinsTGG | p.R1049W | Missense | 1/1 | - | 1 |
9-32632432-C-G | c.3146G>C | p.R1049P | Missense | 1/1 | - | 3 |
9-32632432-C-T | c.3146G>A | p.R1049H | Missense | 1/1 | - | 5 |
9-32632433-G-A | c.3145C>T | p.R1049C | Missense | 1/1 | - | 4 |
9-32632434-C-A | c.3144G>T | p.V1048= | Synonymous | 1/1 | - | 1 |
9-32632434-C-G | c.3144G>C | p.V1048= | Synonymous | 1/1 | - | 1 |
9-32632434-C-T | c.3144G>A | p.V1048= | Synonymous | 1/1 | - | 1 |
9-32632435-A-G | c.3143T>C | p.V1048A | Missense | 1/1 | - | 1 |
9-32632436-C-A | c.3142G>T | p.V1048L | Missense | 1/1 | - | 1 |
9-32632436-C-G | c.3142G>C | p.V1048L | Missense | 1/1 | - | 1 |
9-32632437-C-T | c.3141G>A | p.V1047= | Synonymous | 1/1 | - | 2 |
9-32632438-A-G | c.3140T>C | p.V1047A | Missense | 1/1 | - | 1 |
9-32632439-C-T | c.3139G>A | p.V1047M | Missense | 1/1 | - | 2 |
9-32632440-A-G | c.3138T>C | p.D1046= | Synonymous | 1/1 | - | 1 |
9-32632442-C-G | c.3136G>C | p.D1046H | Missense | 1/1 | - | 1 |
9-32632446-C-T | c.3132G>A | p.V1044= | Synonymous | 1/1 | - | 6 |
9-32632449-T-C | c.3129A>G | p.E1043= | Synonymous | 1/1 | - | 1 |
9-32632450-T-G | c.3128A>C | p.E1043A | Missense | 1/1 | - | 3 |
9-32632451-C-T | c.3127G>A | p.E1043K | Missense | 1/1 | - | 2 |
9-32632455-GC-TT | c.3122_3123delinsAA | p.R1041Q | Missense | 1/1 | - | 1 |
9-32632457-G-A | c.3121C>T | p.R1041C | Missense | 1/1 | - | 4 |
9-32632457-G-C | c.3121C>G | p.R1041G | Missense | 1/1 | - | 1 |
9-32632457-G-T | c.3121C>A | p.R1041S | Missense | 1/1 | - | 1 |
9-32632459-G-A | c.3119C>T | p.S1040F | Missense | 1/1 | - | 2 |
9-32632461-C-T | c.3117G>A | p.L1039= | Synonymous | 1/1 | - | 2 |
9-32632462-A-T | c.3116T>A | p.L1039* | Nonsense | 1/1 | - | 1 |
9-32632463-A-G | c.3115T>C | p.L1039= | Synonymous | 1/1 | - | 1 |
9-32632464-C-G | c.3114G>C | p.K1038N | Missense | 1/1 | - | 1 |
9-32632464-C-T | c.3114G>A | p.K1038= | Synonymous | 1/1 | - | 1 |
9-32632465-T-C | c.3113A>G | p.K1038R | Missense | 1/1 | - | 2 |
9-32632465-T-G | c.3113A>C | p.K1038T | Missense | 1/1 | - | 1 |
9-32632466-T-A | c.3112A>T | p.K1038* | Nonsense | 1/1 | - | 1 |
9-32632467-T-C | c.3111A>G | p.K1037= | Synonymous | 1/1 | - | 1 |
9-32632468-T-G | c.3110A>C | p.K1037T | Missense | 1/1 | - | 1 |
9-32632472-T-C | c.3106A>G | p.I1036V | Missense | 1/1 | - | 1 |
9-32632475-C-T | c.3103G>A | p.E1035K | Missense | 1/1 | - | 4 |
9-32632478-C-T | c.3100G>A | p.E1034K | Missense | 1/1 | - | 2 |
9-32632479-C-T | c.3099G>A | p.E1033= | Synonymous | 1/1 | - | 2 |
9-32632482-A-C | c.3096T>G | p.P1032= | Synonymous | 1/1 | - | 1 |
9-32632482-A-G | c.3096T>C | p.P1032= | Synonymous | 1/1 | - | 2 |
9-32632482-A-T | c.3096T>A | p.P1032= | Synonymous | 1/1 | - | 1 |
9-32632483-G-T | c.3095C>A | p.P1032H | Missense | 1/1 | - | 1 |
9-32632484-G-T | c.3094C>A | p.P1032T | Missense | 1/1 | - | 1 |
9-32632497-AC-TT | c.3080_3081delinsAA | p.R1027Q | Missense | 1/1 | - | 1 |
9-32632498-C-A | c.3080G>T | p.R1027L | Missense | 1/1 | - | 1 |
9-32632498-C-T | c.3080G>A | p.R1027H | Missense | 1/1 | - | 2 |
9-32632499-G-A | c.3079C>T | p.R1027C | Missense | 1/1 | - | 6 |
9-32632505-G-A | c.3073C>T | p.L1025F | Missense | 1/1 | - | 1 |
9-32632509-C-A | c.3069G>T | p.K1023N | Missense | 1/1 | - | 1 |
9-32632509-C-G | c.3069G>C | p.K1023N | Missense | 1/1 | - | 1 |
9-32632515-AT-A | c.3062del | p.N1021Mfs*24 | Frameshift | 1/1 | - | 1 |
9-32632523-G-T | c.3055C>A | p.L1019M | Missense | 1/1 | - | 1 |
9-32632525-G-A | c.3053C>T | p.S1018F | Missense | 1/1 | - | 5 |
9-32632528-A-AC | c.3049_3050insG | p.L1017Rfs*12 | Frameshift | 1/1 | - | 1 |
9-32632528-A-G | c.3050T>C | p.L1017P | Missense | 1/1 | - | 1 |
9-32632531-C-T | c.3047G>A | p.R1016H | Missense | 1/1 | - | 1 |
9-32632532-G-A | c.3046C>T | p.R1016C | Missense | 1/1 | - | 9 |
9-32632532-G-T | c.3046C>A | p.R1016S | Missense | 1/1 | - | 2 |
9-32632533-ACG-TCA | c.3043_3045delinsTGA | p.R1015* | Nonsense | 1/1 | - | 1 |
9-32632534-C-T | c.3044G>A | p.R1015H | Missense | 1/1 | - | 5 |
9-32632535-G-A | c.3043C>T | p.R1015C | Missense | 1/1 | - | 1 |
9-32632541-C-T | c.3037G>A | p.D1013N | Missense | 1/1 | - | 2 |
9-32632544-C-T | c.3034G>A | p.A1012T | Missense | 1/1 | - | 1 |
9-32632549-G-A | c.3029C>T | p.T1010I | Missense | 1/1 | - | 3 |
9-32632552-C-T | c.3026G>A | p.G1009E | Missense | 1/1 | - | 6 |
9-32632555-G-T | c.3023C>A | p.T1008K | Missense | 1/1 | - | 1 |
9-32632561-G-A | c.3017C>T | p.T1006I | Missense | 1/1 | - | 1 |
9-32632569-C-A | c.3009G>T | p.V1003= | Synonymous | 1/1 | - | 3 |
9-32632569-C-G | c.3009G>C | p.V1003= | Synonymous | 1/1 | - | 3 |
9-32632569-C-T | c.3009G>A | p.V1003= | Synonymous | 1/1 | - | 3 |
9-32632574-C-G | c.3004G>C | p.A1002P | Missense | 1/1 | - | 9 |
9-32632578-T-A | c.3000A>T | p.P1000= | Synonymous | 1/1 | - | 1 |
9-32632578-T-C | c.3000A>G | p.P1000= | Synonymous | 1/1 | - | 1 |
9-32632578-T-G | c.3000A>C | p.P1000= | Synonymous | 1/1 | - | 1 |
9-32632579-G-A | c.2999C>T | p.P1000L | Missense | 1/1 | - | 1 |
9-32632579-G-T | c.2999C>A | p.P1000Q | Missense | 1/1 | - | 1 |
9-32632581-C-T | c.2997G>A | p.E999= | Synonymous | 1/1 | - | 1 |
9-32632589-C-G | c.2989G>C | p.D997H | Missense | 1/1 | - | 1 |
9-32632589-C-T | c.2989G>A | p.D997N | Missense | 1/1 | - | 1 |
9-32632592-C-T | c.2986G>A | p.D996N | Missense | 1/1 | - | 3 |
9-32632596-C-T | c.2982G>A | p.Q994= | Synonymous | 1/1 | - | 1 |
9-32632596-TC-T | c.2982del | p.K995Rfs*9 | Frameshift | 1/1 | - | 1 |
9-32632598-G-T | c.2980C>A | p.Q994K | Missense | 1/1 | - | 1 |
9-32632600-T-G | c.2978A>C | p.Q993P | Missense | 1/1 | - | 1 |
9-32632602-T-A | c.2976A>T | p.T992= | Synonymous | 1/1 | - | 1 |
9-32632602-T-C | c.2976A>G | p.T992= | Synonymous | 1/1 | - | 1 |
9-32632602-T-G | c.2976A>C | p.T992= | Synonymous | 1/1 | - | 1 |
9-32632604-T-A | c.2974A>T | p.T992S | Missense | 1/1 | - | 6 |
9-32632604-T-C | c.2974A>G | p.T992A | Missense | 1/1 | - | 2 |
9-32632610-T-C | c.2968A>G | p.K990E | Missense | 1/1 | - | 1 |
9-32632614-T-A | c.2964A>T | p.P988= | Synonymous | 1/1 | - | 1 |
9-32632614-T-C | c.2964A>G | p.P988= | Synonymous | 1/1 | - | 1 |
9-32632614-T-G | c.2964A>C | p.P988= | Synonymous | 1/1 | - | 1 |
9-32632615-G-A | c.2963C>T | p.P988L | Missense | 1/1 | - | 2 |
9-32632618-A-G | c.2960T>C | p.I987T | Missense | 1/1 | - | 1 |
9-32632620-C-T | c.2958G>A | p.K986= | Synonymous | 1/1 | - | 1 |
9-32632622-T-G | c.2956A>C | p.K986Q | Missense | 1/1 | - | 1 |
9-32632630-GA-AG | c.2947_2948delinsCT | p.S983L | Missense | 1/1 | - | 1 |
9-32632632-G-T | c.2946C>A | p.F982L | Missense | 1/1 | - | 2 |
9-32632636-C-T | c.2942G>A | p.G981E | Missense | 1/1 | - | 6 |
9-32632642-C-A | c.2936G>T | p.G979V | Missense | 1/1 | - | 1 |
9-32632645-C-G | c.2933G>C | p.C978S | Missense | 1/1 | - | 2 |
9-32632646-A-T | c.2932T>A | p.C978S | Missense | 1/1 | - | 1 |
9-32632648-C-G | c.2930G>C | p.G977A | Missense | 1/1 | - | 1 |
9-32632649-C-A | c.2929G>T | p.G977W | Missense | 1/1 | - | 1 |
9-32632650-TGT-ACA | c.2926_2928inv | p.T976C | Missense | 1/1 | - | 1 |
9-32632655-G-A | c.2923C>T | p.P975S | Missense | 1/1 | - | 5 |
9-32632656-A-G | c.2922T>C | p.D974= | Synonymous | 1/1 | - | 1 |
9-32632657-T-C | c.2921A>G | p.D974G | Missense | 1/1 | - | 1 |
9-32632658-C-T | c.2920G>A | p.D974N | Missense | 1/1 | - | 3 |
9-32632659-T-A | c.2919A>T | p.A973= | Synonymous | 1/1 | - | 1 |
9-32632661-C-G | c.2917G>C | p.A973P | Missense | 1/1 | - | 1 |
9-32632662-C-A | c.2916G>T | p.V972= | Synonymous | 1/1 | - | 2 |
9-32632662-C-G | c.2916G>C | p.V972= | Synonymous | 1/1 | - | 2 |
9-32632662-C-T | c.2916G>A | p.V972= | Synonymous | 1/1 | - | 2 |
9-32632664-C-A | c.2914G>T | p.V972L | Missense | 1/1 | - | 3 |
9-32632664-C-G | c.2914G>C | p.V972L | Missense | 1/1 | - | 2 |
9-32632664-C-T | c.2914G>A | p.V972M | Missense | 1/1 | - | 1 |
9-32632668-A-C | c.2910T>G | p.T970= | Synonymous | 1/1 | - | 1 |
9-32632668-A-G | c.2910T>C | p.T970= | Synonymous | 1/1 | - | 1 |
9-32632668-A-T | c.2910T>A | p.T970= | Synonymous | 1/1 | - | 1 |
9-32632671-C-A | c.2907G>T | p.V969= | Synonymous | 1/1 | - | 1 |
9-32632671-C-G | c.2907G>C | p.V969= | Synonymous | 1/1 | - | 1 |
9-32632671-C-T | c.2907G>A | p.V969= | Synonymous | 1/1 | - | 1 |
9-32632673-C-T | c.2905G>A | p.V969M | Missense | 1/1 | - | 1 |
9-32632676-C-G | c.2902G>C | p.E968Q | Missense | 1/1 | - | 6 |
9-32632680-G-A | c.2898C>T | p.L966= | Synonymous | 1/1 | - | 1 |
9-32632680-G-C | c.2898C>G | p.L966= | Synonymous | 1/1 | - | 1 |
9-32632680-G-T | c.2898C>A | p.L966= | Synonymous | 1/1 | - | 1 |
9-32632682-G-A | c.2896C>T | p.L966F | Missense | 1/1 | - | 3 |
9-32632684-C-T | c.2894G>A | p.C965Y | Missense | 1/1 | - | 3 |
9-32632685-A-G | c.2893T>C | p.C965R | Missense | 1/1 | - | 3 |
9-32632687-T-A | c.2891A>T | p.K964M | Missense | 1/1 | - | 1 |
9-32632687-T-C | c.2891A>G | p.K964R | Missense | 1/1 | - | 1 |
9-32632690-C-A | c.2888G>T | p.G963V | Missense | 1/1 | - | 2 |
9-32632696-A-G | c.2882T>C | p.M961T | Missense | 1/1 | - | 1 |
9-32632697-T-C | c.2881A>G | p.M961V | Missense | 1/1 | - | 1 |
9-32632698-G-A | c.2880C>T | p.A960= | Synonymous | 1/1 | - | 2 |
9-32632698-G-C | c.2880C>G | p.A960= | Synonymous | 1/1 | - | 1 |
9-32632698-G-T | c.2880C>A | p.A960= | Synonymous | 1/1 | - | 1 |
9-32632699-G-A | c.2879C>T | p.A960V | Missense | 1/1 | - | 2 |
9-32632699-G-T | c.2879C>A | p.A960D | Missense | 1/1 | - | 1 |
9-32632703-C-T | c.2875G>A | p.A959T | Missense | 1/1 | - | 1 |
9-32632706-T-C | c.2872A>G | p.I958V | Missense | 1/1 | - | 1 |
9-32632707-G-A | c.2871C>T | p.F957= | Synonymous | 1/1 | - | 2 |
9-32632707-G-T | c.2871C>A | p.F957L | Missense | 1/1 | - | 1 |
9-32632711-G-A | c.2867C>T | p.A956V | Missense | 1/1 | - | 1 |
9-32632712-C-A | c.2866G>T | p.A956S | Missense | 1/1 | - | 1 |
9-32632714-C-T | c.2864G>A | p.R955K | Missense | 1/1 | - | 2 |
9-32632715-T-C | c.2863A>G | p.R955G | Missense | 1/1 | - | 1 |
9-32632717-G-A | c.2861C>T | p.T954I | Missense | 1/1 | - | 1 |
9-32632729-G-A | c.2849C>T | p.P950L | Missense | 1/1 | - | 2 |
9-32632730-G-A | c.2848C>T | p.P950S | Missense | 1/1 | - | 2 |
9-32632736-C-T | c.2842G>A | p.A948T | Missense | 1/1 | - | 4 |
9-32632737-G-A | c.2841C>T | p.H947= | Synonymous | 1/1 | - | 2 |
9-32632739-G-A | c.2839C>T | p.H947Y | Missense | 1/1 | - | 7 |
9-32632740-A-C | c.2838T>G | p.V946= | Synonymous | 1/1 | - | 1 |
9-32632740-A-G | c.2838T>C | p.V946= | Synonymous | 1/1 | - | 1 |
9-32632740-A-T | c.2838T>A | p.V946= | Synonymous | 1/1 | - | 1 |
9-32632742-C-A | c.2836G>T | p.V946F | Missense | 1/1 | - | 1 |
9-32632744-T-A | c.2834A>T | p.E945V | Missense | 1/1 | - | 1 |
9-32632748-C-T | c.2830G>A | p.D944N | Missense | 1/1 | - | 2 |
9-32632753-A-G | c.2825T>C | p.I942T | Missense | 1/1 | - | 1 |
9-32632759-A-T | c.2819T>A | p.M940K | Missense | 1/1 | - | 2 |
9-32632761-C-T | c.2817G>A | p.Q939= | Synonymous | 1/1 | - | 1 |
9-32632763-G-A | c.2815C>T | p.Q939* | Nonsense | 1/1 | - | 1 |
9-32632764-G-A | c.2814C>T | p.F938= | Synonymous | 1/1 | - | 4 |
9-32632769-C-G | c.2809G>C | p.D937H | Missense | 1/1 | - | 1 |
9-32632770-T-A | c.2808A>T | p.E936D | Missense | 1/1 | - | 1 |
9-32632770-T-G | c.2808A>C | p.E936D | Missense | 1/1 | - | 1 |
9-32632772-C-A | c.2806G>T | p.E936* | Nonsense | 1/1 | - | 1 |
9-32632772-C-T | c.2806G>A | p.E936K | Missense | 1/1 | - | 9 |
9-32632773-C-A | c.2805G>T | p.E935D | Missense | 1/1 | - | 1 |
9-32632773-C-G | c.2805G>C | p.E935D | Missense | 1/1 | - | 1 |
9-32632775-C-T | c.2803G>A | p.E935K | Missense | 1/1 | - | 6 |
9-32632781-C-T | c.2797G>A | p.E933K | Missense | 1/1 | - | 5 |
9-32632782-T-A | c.2796A>T | p.E932D | Missense | 1/1 | - | 1 |
9-32632782-T-G | c.2796A>C | p.E932D | Missense | 1/1 | - | 1 |
9-32632784-C-A | c.2794G>T | p.E932* | Nonsense | 1/1 | - | 1 |
9-32632787-C-A | c.2791G>T | p.E931* | Nonsense | 1/1 | - | 1 |
9-32632789-G-A | c.2789C>T | p.P930L | Missense | 1/1 | - | 1 |
9-32632790-G-T | c.2788C>A | p.P930T | Missense | 1/1 | - | 1 |
9-32632791-G-A | c.2787C>T | p.A929= | Synonymous | 1/1 | - | 3 |
9-32632791-G-C | c.2787C>G | p.A929= | Synonymous | 1/1 | - | 1 |
9-32632791-G-T | c.2787C>A | p.A929= | Synonymous | 1/1 | - | 1 |
9-32632793-C-A | c.2785G>T | p.A929S | Missense | 1/1 | - | 2 |
9-32632793-C-G | c.2785G>C | p.A929P | Missense | 1/1 | - | 1 |
9-32632795-A-T | c.2783T>A | p.F928Y | Missense | 1/1 | - | 1 |
9-32632794-A-C | c.2784T>G | p.F928L | Missense | 1/1 | - | 1 |
9-32632794-A-T | c.2784T>A | p.F928L | Missense | 1/1 | - | 1 |
9-32632796-A-G | c.2782T>C | p.F928L | Missense | 1/1 | - | 1 |
9-32632793-CA-C | c.2784del | p.F928Lfs*13 | Frameshift | 1/1 | - | 6 |
9-32632799-A-G | c.2779T>C | p.F927L | Missense | 1/1 | - | 1 |
9-32632800-G-A | c.2778C>T | p.S926= | Synonymous | 1/1 | - | 5 |
9-32632800-G-C | c.2778C>G | p.S926= | Synonymous | 1/1 | - | 2 |
9-32632800-G-T | c.2778C>A | p.S926= | Synonymous | 1/1 | - | 3 |
9-32632801-G-A | c.2777C>T | p.S926F | Missense | 1/1 | - | 4 |
9-32632802-A-G | c.2776T>C | p.S926P | Missense | 1/1 | - | 2 |
9-32632806-C-A | c.2772G>T | p.E924D | Missense | 1/1 | - | 5 |
9-32632806-C-G | c.2772G>C | p.E924D | Missense | 1/1 | - | 3 |
9-32632810-CC-TT | c.2767_2768delinsAA | p.G923N | Missense | 1/1 | - | 1 |
9-32632815-G-A | c.2763C>T | p.G921= | Synonymous | 1/1 | - | 3 |
9-32632815-G-C | c.2763C>G | p.G921= | Synonymous | 1/1 | - | 3 |
9-32632815-G-T | c.2763C>A | p.G921= | Synonymous | 1/1 | - | 4 |
9-32632819-G-T | c.2759C>A | p.A920D | Missense | 1/1 | - | 1 |
9-32632824-C-T | c.2754G>A | p.K918= | Synonymous | 1/1 | - | 1 |
9-32632831-C-A | c.2747G>T | p.R916L | Missense | 1/1 | - | 1 |
9-32632831-CG-AT | c.2746_2747delinsAT | p.R916I | Missense | 1/1 | - | 1 |
9-32632832-G-A | c.2746C>T | p.R916* | Nonsense | 1/1 | - | 1 |
9-32632835-G-T | c.2743C>A | p.Q915K | Missense | 1/1 | - | 2 |
9-32632838-T-C | c.2740A>G | p.K914E | Missense | 1/1 | - | 1 |
9-32632840-G-T | c.2738C>A | p.A913E | Missense | 1/1 | - | 5 |
9-32632844-C-T | c.2734G>A | p.A912T | Missense | 1/1 | - | 1 |
9-32632855-T-C | c.2723A>G | p.Y908C | Missense | 1/1 | - | 2 |
9-32632863-A-C | c.2715T>G | p.C905W | Missense | 1/1 | - | 5 |
9-32632865-A-T | c.2713T>A | p.C905S | Missense | 1/1 | - | 1 |
9-32632867-C-T | c.2711G>A | p.C904Y | Missense | 1/1 | - | 2 |
9-32632870-T-A | c.2708A>T | p.Q903L | Missense | 1/1 | - | 1 |
9-32632877-G-A | c.2701C>T | p.P901S | Missense | 1/1 | - | 1 |
9-32632885-T-A | c.2693A>T | p.K898M | Missense | 1/1 | - | 1 |
9-32632891-CT-TG | c.2686_2687delinsCA | p.R896Q | Missense | 1/1 | - | 1 |
9-32632893-G-C | c.2685C>G | p.I895M | Missense | 1/1 | - | 1 |
9-32632898-C-T | c.2680G>A | p.E894K | Missense | 1/1 | - | 2 |
9-32632900-T-A | c.2678A>T | p.E893V | Missense | 1/1 | - | 1 |
9-32632901-C-A | c.2677G>T | p.E893* | Nonsense | 1/1 | - | 1 |
9-32632904-C-A | c.2674G>T | p.E892* | Nonsense | 1/1 | - | 1 |
9-32632905-C-A | c.2673G>T | p.T891= | Synonymous | 1/1 | - | 1 |
9-32632905-C-G | c.2673G>C | p.T891= | Synonymous | 1/1 | - | 1 |
9-32632905-C-T | c.2673G>A | p.T891= | Synonymous | 1/1 | - | 3 |
9-32632906-G-A | c.2672C>T | p.T891M | Missense | 1/1 | - | 2 |
9-32632906-G-C | c.2672C>G | p.T891R | Missense | 1/1 | - | 1 |
9-32632907-T-C | c.2671A>G | p.T891A | Missense | 1/1 | - | 1 |
9-32632908-T-A | c.2670A>T | p.P890= | Synonymous | 1/1 | - | 1 |
9-32632908-T-C | c.2670A>G | p.P890= | Synonymous | 1/1 | - | 1 |
9-32632908-T-G | c.2670A>C | p.P890= | Synonymous | 1/1 | - | 1 |
9-32632908-TTG-T | c.2669_2670del | p.P890Hfs*8 | Frameshift | 1/1 | - | 1 |
9-32632914-A-C | c.2664T>G | p.R888= | Synonymous | 1/1 | - | 2 |
9-32632914-A-G | c.2664T>C | p.R888= | Synonymous | 1/1 | - | 2 |
9-32632914-A-T | c.2664T>A | p.R888= | Synonymous | 1/1 | - | 2 |
9-32632915-C-T | c.2663G>A | p.R888H | Missense | 1/1 | - | 4 |
9-32632916-G-A | c.2662C>T | p.R888C | Missense | 1/1 | - | 14 |
9-32632921-T-C | c.2657A>G | p.D886G | Missense | 1/1 | - | 2 |
9-32632927-T-A | c.2651A>T | p.K884M | Missense | 1/1 | - | 1 |
9-32632931-G-A | c.2647C>T | p.L883F | Missense | 1/1 | - | 1 |
9-32632932-CAC-GAT | c.2644_2646delinsATC | p.V882I | Missense | 1/1 | - | 1 |
9-32632933-AC-A | c.2644del | p.V882Cfs*29 | Frameshift | 1/1 | - | 1 |
9-32632937-A-G | c.2641T>C | p.W881R | Missense | 1/1 | - | 1 |
9-32632937-A-T | c.2641T>A | p.W881R | Missense | 1/1 | - | 1 |
9-32632939-C-A | c.2639G>T | p.W880L | Missense | 1/1 | - | 1 |
9-32632940-A-G | c.2638T>C | p.W880R | Missense | 1/1 | - | 2 |
9-32632944-T-A | c.2634A>T | p.S878= | Synonymous | 1/1 | - | 1 |
9-32632944-T-C | c.2634A>G | p.S878= | Synonymous | 1/1 | - | 1 |
9-32632944-T-G | c.2634A>C | p.S878= | Synonymous | 1/1 | - | 1 |
9-32632945-G-A | c.2633C>T | p.S878L | Missense | 1/1 | - | 3 |
9-32632945-G-C | c.2633C>G | p.S878* | Nonsense | 1/1 | - | 1 |
9-32632949-C-A | c.2629G>T | p.D877Y | Missense | 1/1 | - | 1 |
9-32632950-C-A | c.2628G>T | p.M876I | Missense | 1/1 | - | 1 |
9-32632950-C-G | c.2628G>C | p.M876I | Missense | 1/1 | - | 1 |
9-32632950-C-T | c.2628G>A | p.M876I | Missense | 1/1 | - | 7 |
9-32632953-C-A | c.2625G>T | p.G875= | Synonymous | 1/1 | - | 3 |
9-32632953-C-G | c.2625G>C | p.G875= | Synonymous | 1/1 | - | 3 |
9-32632953-C-T | c.2625G>A | p.G875= | Synonymous | 1/1 | - | 6 |
9-32632954-C-T | c.2624G>A | p.G875E | Missense | 1/1 | - | 6 |
9-32632959-GC-TT | c.2618_2619delinsAA | p.R873Q | Missense | 1/1 | - | 1 |
9-32632960-C-A | c.2618G>T | p.R873L | Missense | 1/1 | - | 1 |
9-32632960-C-T | c.2618G>A | p.R873H | Missense | 1/1 | - | 1 |
9-32632961-G-A | c.2617C>T | p.R873C | Missense | 1/1 | - | 11 |
9-32632963-T-C | c.2615A>G | p.K872R | Missense | 1/1 | - | 1 |
9-32632973-C-T | c.2605G>A | p.A869T | Missense | 1/1 | - | 9 |
9-32632974-G-A | c.2604C>T | p.C868= | Synonymous | 1/1 | - | 2 |
9-32632975-C-T | c.2603G>A | p.C868Y | Missense | 1/1 | - | 1 |
9-32632976-A-C | c.2602T>G | p.C868G | Missense | 1/1 | - | 1 |
9-32632976-A-G | c.2602T>C | p.C868R | Missense | 1/1 | - | 1 |
9-32632980-C-T | c.2598G>A | p.K866= | Synonymous | 1/1 | - | 2 |
9-32632985-G-T | c.2593C>A | p.L865I | Missense | 1/1 | - | 1 |
9-32632987-C-A | c.2591G>T | p.R864M | Missense | 1/1 | - | 6 |
9-32632988-T-A | c.2590A>T | p.R864W | Missense | 1/1 | - | 2 |
9-32632989-C-A | c.2589G>T | p.K863N | Missense | 1/1 | - | 1 |
9-32632989-C-G | c.2589G>C | p.K863N | Missense | 1/1 | - | 1 |
9-32632989-C-T | c.2589G>A | p.K863= | Synonymous | 1/1 | - | 1 |
9-32632992-CC-AT | c.2585_2586delinsAT | p.R862H | Missense | 1/1 | - | 1 |
9-32632993-C-T | c.2585G>A | p.R862Q | Missense | 1/1 | - | 3 |
9-32632994-G-A | c.2584C>T | p.R862W | Missense | 1/1 | - | 6 |
9-32632999-CT-GG | c.2578_2579delinsCC | p.S860P | Missense | 1/1 | - | 1 |
9-32633002-C-T | c.2576G>A | p.S859N | Missense | 1/1 | - | 1 |
9-32633008-G-A | c.2570C>T | p.S857L | Missense | 1/1 | - | 1 |
9-32633013-G-A | c.2565C>T | p.S855= | Synonymous | 1/1 | - | 1 |
9-32633017-G-A | c.2561C>T | p.P854L | Missense | 1/1 | - | 2 |
9-32633017-GG-AA | c.2560_2561delinsTT | p.P854F | Missense | 1/1 | - | 1 |
9-32633018-G-A | c.2560C>T | p.P854S | Missense | 1/1 | - | 2 |
9-32633024-C-G | c.2554G>C | p.A852P | Missense | 1/1 | - | 1 |
9-32633024-C-T | c.2554G>A | p.A852T | Missense | 1/1 | - | 1 |
9-32633024-GC-G | c.2554del | p.A852Pfs*14 | Frameshift | 1/1 | - | 2 |
9-32633027-T-TA | c.2550_2551insT | p.K851* | Nonsense | 1/1 | - | 1 |
9-32633029-T-G | c.2549A>C | p.K850T | Missense | 1/1 | - | 1 |
9-32633024-CT-C | c.2553del | p.A852Pfs*14 | Frameshift | 1/1 | - | 6 |
9-32633034-A-G | c.2544T>C | p.D848= | Synonymous | 1/1 | - | 2 |
9-32633036-C-T | c.2542G>A | p.D848N | Missense | 1/1 | - | 4 |
9-32633040-C-T | c.2538G>A | p.M846I | Missense | 1/1 | - | 1 |
9-32633041-A-T | c.2537T>A | p.M846K | Missense | 1/1 | - | 1 |
9-32633043-TCG-ACA | c.2533_2535delinsTGT | p.R845C | Missense | 1/1 | - | 1 |
9-32633044-C-A | c.2534G>T | p.R845L | Missense | 1/1 | - | 1 |
9-32633044-C-T | c.2534G>A | p.R845Q | Missense | 1/1 | - | 11 |
9-32633045-G-A | c.2533C>T | p.R845* | Nonsense | 1/1 | - | 2 |
9-32633049-C-T | c.2529G>A | p.R843= | Synonymous | 1/1 | - | 3 |
9-32633050-C-A | c.2528G>T | p.R843M | Missense | 1/1 | - | 1 |
9-32633050-C-T | c.2528G>A | p.R843K | Missense | 1/1 | - | 1 |
9-32633051-T-A | c.2527A>T | p.R843W | Missense | 1/1 | - | 2 |
9-32633053-C-T | c.2525G>A | p.R842Q | Missense | 1/1 | - | 2 |
9-32633054-G-A | c.2524C>T | p.R842W | Missense | 1/1 | - | 2 |
9-32633059-C-T | c.2519G>A | p.R840Q | Missense | 1/1 | - | 3 |
9-32633058-C-A | c.2520G>T | p.R840= | Synonymous | 1/1 | - | 1 |
9-32633058-C-G | c.2520G>C | p.R840= | Synonymous | 1/1 | - | 1 |
9-32633058-C-T | c.2520G>A | p.R840= | Synonymous | 1/1 | - | 2 |
9-32633060-G-A | c.2518C>T | p.R840W | Missense | 1/1 | - | 2 |
9-32633060-G-T | c.2518C>A | p.R840= | Synonymous | 1/1 | - | 1 |
9-32633063-C-T | c.2515G>A | p.D839N | Missense | 1/1 | - | 1 |
9-32633065-T-C | c.2513A>G | p.K838R | Missense | 1/1 | - | 1 |
9-32633070-C-T | c.2508G>A | p.K836= | Synonymous | 1/1 | - | 1 |
9-32633073-C-T | c.2505G>A | p.W835* | Nonsense | 1/1 | - | 2 |
9-32633080-A-C | c.2498T>G | p.L833R | Missense | 1/1 | - | 1 |
9-32633081-G-C | c.2497C>G | p.L833V | Missense | 1/1 | - | 1 |
9-32633083-C-T | c.2495G>A | p.R832H | Missense | 1/1 | - | 12 |
9-32633084-G-A | c.2494C>T | p.R832C | Missense | 1/1 | - | 1 |
9-32633087-A-G | c.2491T>C | p.Y831H | Missense | 1/1 | - | 1 |
9-32633095-A-G | c.2483T>C | p.V828A | Missense | 1/1 | - | 1 |
9-32633102-G-T | c.2476C>A | p.L826I | Missense | 1/1 | - | 2 |
9-32633108-C-A | c.2470G>T | p.D824Y | Missense | 1/1 | - | 2 |
9-32633109-TCG-CCA | c.2467_2469delinsTGG | p.R823W | Missense | 1/1 | - | 1 |
9-32633110-C-T | c.2468G>A | p.R823Q | Missense | 1/1 | - | 3 |
9-32633111-G-A | c.2467C>T | p.R823* | Nonsense | 1/1 | - | 2 |
9-32633111-G-T | c.2467C>A | p.R823= | Synonymous | 1/1 | - | 1 |
9-32633119-A-G | c.2459T>C | p.M820T | Missense | 1/1 | - | 3 |
9-32633120-T-A | c.2458A>T | p.M820L | Missense | 1/1 | - | 1 |
9-32633120-T-G | c.2458A>C | p.M820L | Missense | 1/1 | - | 1 |
9-32633128-C-A | c.2450G>T | p.R817M | Missense | 1/1 | - | 1 |
9-32633128-C-T | c.2450G>A | p.R817K | Missense | 1/1 | - | 5 |
9-32633128-CT-TA | c.2449_2450delinsTA | p.R817* | Nonsense | 1/1 | - | 1 |
9-32633129-T-A | c.2449A>T | p.R817W | Missense | 1/1 | - | 2 |
9-32633129-T-C | c.2449A>G | p.R817G | Missense | 1/1 | - | 1 |
9-32633131-C-T | c.2447G>A | p.R816K | Missense | 1/1 | - | 3 |
9-32633133-G-A | c.2445C>T | p.S815= | Synonymous | 1/1 | - | 1 |
9-32633141-G-A | c.2437C>T | p.P813S | Missense | 1/1 | - | 3 |
9-32633142-C-T | c.2436G>A | p.G812= | Synonymous | 1/1 | - | 4 |
9-32633143-C-T | c.2435G>A | p.G812E | Missense | 1/1 | - | 1 |
9-32633144-C-A | c.2434G>T | p.G812W | Missense | 1/1 | - | 1 |
9-32633146-G-T | c.2432C>A | p.P811H | Missense | 1/1 | - | 1 |
9-32633150-C-G | c.2428G>C | p.V810L | Missense | 1/1 | - | 1 |
9-32633150-C-T | c.2428G>A | p.V810I | Missense | 1/1 | - | 2 |
9-32633160-G-A | c.2418C>T | p.P806= | Synonymous | 1/1 | - | 1 |
9-32633160-G-C | c.2418C>G | p.P806= | Synonymous | 1/1 | - | 1 |
9-32633160-G-T | c.2418C>A | p.P806= | Synonymous | 1/1 | - | 1 |
9-32633161-G-A | c.2417C>T | p.P806L | Missense | 1/1 | - | 5 |
9-32633161-G-C | c.2417C>G | p.P806R | Missense | 1/1 | - | 1 |
9-32633166-C-T | c.2412G>A | p.Q804= | Synonymous | 1/1 | - | 1 |
9-32633168-G-A | c.2410C>T | p.Q804* | Nonsense | 1/1 | - | 1 |
9-32633169-C-A | c.2409G>T | p.Q803H | Missense | 1/1 | - | 1 |
9-32633169-C-G | c.2409G>C | p.Q803H | Missense | 1/1 | - | 1 |
9-32633172-G-A | c.2406C>T | p.G802= | Synonymous | 1/1 | - | 1 |
9-32633172-G-C | c.2406C>G | p.G802= | Synonymous | 1/1 | - | 1 |
9-32633172-G-T | c.2406C>A | p.G802= | Synonymous | 1/1 | - | 1 |
9-32633173-C-T | c.2405G>A | p.G802D | Missense | 1/1 | - | 1 |
9-32633177-C-A | c.2401G>T | p.V801F | Missense | 1/1 | - | 2 |
9-32633177-C-T | c.2401G>A | p.V801I | Missense | 1/1 | - | 2 |
9-32633178-C-A | c.2400G>T | p.V800= | Synonymous | 1/1 | - | 1 |
9-32633189-C-T | c.2389G>A | p.D797N | Missense | 1/1 | - | 6 |
9-32633193-TAA-ATG | c.2383_2385delinsCAT | p.L795H | Missense | 1/1 | - | 1 |
9-32633194-A-G | c.2384T>C | p.L795S | Missense | 1/1 | - | 3 |
9-32633195-A-C | c.2383T>G | p.L795V | Missense | 1/1 | - | 1 |
9-32633196-T-A | c.2382A>T | p.E794D | Missense | 1/1 | - | 1 |
9-32633196-T-G | c.2382A>C | p.E794D | Missense | 1/1 | - | 1 |
9-32633198-C-T | c.2380G>A | p.E794K | Missense | 1/1 | - | 5 |
9-32633199-CCG-GAT | c.2377_2379delinsATC | p.R793I | Missense | 1/1 | - | 1 |
9-32633200-C-T | c.2378G>A | p.R793Q | Missense | 1/1 | - | 1 |
9-32633199-C-A | c.2379G>T | p.R793= | Synonymous | 1/1 | - | 1 |
9-32633199-C-G | c.2379G>C | p.R793= | Synonymous | 1/1 | - | 1 |
9-32633199-C-T | c.2379G>A | p.R793= | Synonymous | 1/1 | - | 1 |
9-32633201-G-A | c.2377C>T | p.R793W | Missense | 1/1 | - | 14 |
9-32633201-G-T | c.2377C>A | p.R793= | Synonymous | 1/1 | - | 1 |
9-32633205-A-G | c.2373T>C | p.Y791= | Synonymous | 1/1 | - | 1 |
9-32633206-T-C | c.2372A>G | p.Y791C | Missense | 1/1 | - | 1 |
9-32633212-C-T | c.2366G>A | p.G789D | Missense | 1/1 | - | 2 |
9-32633213-C-A | c.2365G>T | p.G789C | Missense | 1/1 | - | 1 |
9-32633214-C-T | c.2364G>A | p.Q788= | Synonymous | 1/1 | - | 1 |
9-32633217-TCT-ACA | c.2359_2361delinsTGT | p.R787C | Missense | 1/1 | - | 1 |
9-32633222-T-A | c.2356A>T | p.T786S | Missense | 1/1 | - | 1 |
9-32633223-C-T | c.2355G>A | p.R785= | Synonymous | 1/1 | - | 4 |
9-32633224-C-T | c.2354G>A | p.R785Q | Missense | 1/1 | - | 1 |
9-32633225-G-A | c.2353C>T | p.R785W | Missense | 1/1 | - | 1 |
9-32633228-T-A | c.2350A>T | p.I784F | Missense | 1/1 | - | 1 |
9-32633229-G-A | c.2349C>T | p.I783= | Synonymous | 1/1 | - | 4 |
9-32633229-G-T | c.2349C>A | p.I783= | Synonymous | 1/1 | - | 1 |
9-32633233-A-T | c.2345T>A | p.L782Q | Missense | 1/1 | - | 9 |
9-32633240-C-T | c.2338G>A | p.D780N | Missense | 1/1 | - | 6 |
9-32633243-T-G | c.2335A>C | p.T779P | Missense | 1/1 | - | 1 |
9-32633246-C-A | c.2332G>T | p.E778* | Nonsense | 1/1 | - | 1 |
9-32633255-T-A | c.2323A>T | p.K775* | Nonsense | 1/1 | - | 2 |
9-32633260-A-G | c.2318T>C | p.L773P | Missense | 1/1 | - | 1 |
9-32633269-G-A | c.2309C>T | p.P770L | Missense | 1/1 | - | 1 |
9-32633269-G-T | c.2309C>A | p.P770Q | Missense | 1/1 | - | 1 |
9-32633270-G-A | c.2308C>T | p.P770S | Missense | 1/1 | - | 4 |
9-32633273-C-A | c.2305G>T | p.A769S | Missense | 1/1 | - | 1 |
9-32633273-C-T | c.2305G>A | p.A769T | Missense | 1/1 | - | 1 |
9-32633275-C-T | c.2303G>A | p.R768H | Missense | 1/1 | - | 1 |
9-32633276-G-A | c.2302C>T | p.R768C | Missense | 1/1 | - | 11 |
9-32633289-C-A | c.2289G>T | p.E763D | Missense | 1/1 | - | 1 |
9-32633289-C-G | c.2289G>C | p.E763D | Missense | 1/1 | - | 1 |
9-32633289-C-T | c.2289G>A | p.E763= | Synonymous | 1/1 | - | 1 |
9-32633291-C-G | c.2287G>C | p.E763Q | Missense | 1/1 | - | 1 |
9-32633291-C-T | c.2287G>A | p.E763K | Missense | 1/1 | - | 4 |
9-32633293-A-G | c.2285T>C | p.L762P | Missense | 1/1 | - | 1 |
9-32633293-A-T | c.2285T>A | p.L762H | Missense | 1/1 | - | 1 |
9-32633294-G-T | c.2284C>A | p.L762I | Missense | 1/1 | - | 3 |
9-32633296-G-A | c.2282C>T | p.A761V | Missense | 1/1 | - | 3 |
9-32633297-C-G | c.2281G>C | p.A761P | Missense | 1/1 | - | 2 |
9-32633297-C-T | c.2281G>A | p.A761T | Missense | 1/1 | - | 2 |
9-32633300-G-A | c.2278C>T | p.Q760* | Nonsense | 1/1 | - | 1 |
9-32633303-G-A | c.2275C>T | p.L759= | Synonymous | 1/1 | - | 1 |
9-32633310-G-A | c.2268C>T | p.G756= | Synonymous | 1/1 | - | 2 |
9-32633310-G-C | c.2268C>G | p.G756= | Synonymous | 1/1 | - | 1 |
9-32633310-GCC-CCA | c.2266_2268delinsTGG | p.G756W | Missense | 1/1 | - | 1 |
9-32633310-G-T | c.2268C>A | p.G756= | Synonymous | 1/1 | - | 1 |
9-32633311-C-T | c.2267G>A | p.G756D | Missense | 1/1 | - | 2 |
9-32633314-G-C | c.2264C>G | p.P755R | Missense | 1/1 | - | 1 |
9-32633315-G-A | c.2263C>T | p.P755S | Missense | 1/1 | - | 3 |
9-32633318-G-A | c.2260C>T | p.H754Y | Missense | 1/1 | - | 4 |
9-32633319-G-C | c.2259C>G | p.L753= | Synonymous | 1/1 | - | 1 |
9-32633324-A-G | c.2254T>C | p.S752P | Missense | 1/1 | - | 1 |
9-32633325-G-A | c.2253C>T | p.G751= | Synonymous | 1/1 | - | 1 |
9-32633325-G-C | c.2253C>G | p.G751= | Synonymous | 1/1 | - | 1 |
9-32633325-G-T | c.2253C>A | p.G751= | Synonymous | 1/1 | - | 1 |
9-32633328-C-A | c.2250G>T | p.L750F | Missense | 1/1 | - | 3 |
9-32633328-C-G | c.2250G>C | p.L750F | Missense | 1/1 | - | 2 |
9-32633328-C-T | c.2250G>A | p.L750= | Synonymous | 1/1 | - | 1 |
9-32633330-A-G | c.2248T>C | p.L750= | Synonymous | 1/1 | - | 1 |
9-32633331-G-A | c.2247C>T | p.F749= | Synonymous | 1/1 | - | 1 |
9-32633336-G-A | c.2242C>T | p.P748S | Missense | 1/1 | - | 2 |
9-32633336-G-T | c.2242C>A | p.P748T | Missense | 1/1 | - | 1 |
9-32633341-G-A | c.2237C>T | p.T746I | Missense | 1/1 | - | 1 |
9-32633347-C-G | c.2231G>C | p.C744S | Missense | 1/1 | - | 1 |
9-32633348-A-C | c.2230T>G | p.C744G | Missense | 1/1 | - | 1 |
9-32633348-A-T | c.2230T>A | p.C744S | Missense | 1/1 | - | 1 |
9-32633354-C-T | c.2224G>A | p.V742I | Missense | 1/1 | - | 3 |
9-32633356-G-A | c.2222C>T | p.T741I | Missense | 1/1 | - | 3 |
9-32633357-T-G | c.2221A>C | p.T741P | Missense | 1/1 | - | 1 |
9-32633360-C-T | c.2218G>A | p.E740K | Missense | 1/1 | - | 2 |
9-32633362-C-G | c.2216G>C | p.G739A | Missense | 1/1 | - | 1 |
9-32633366-AT-A | c.2211del | p.K737Nfs*46 | Frameshift | 1/1 | - | 1 |
9-32633371-C-T | c.2207G>A | p.C736Y | Missense | 1/1 | - | 2 |
9-32633372-A-C | c.2206T>G | p.C736G | Missense | 1/1 | - | 1 |
9-32633375-C-G | c.2203G>C | p.D735H | Missense | 1/1 | - | 1 |
9-32633379-T-A | c.2199A>T | p.A733= | Synonymous | 1/1 | - | 1 |
9-32633379-T-C | c.2199A>G | p.A733= | Synonymous | 1/1 | - | 1 |
9-32633379-T-G | c.2199A>C | p.A733= | Synonymous | 1/1 | - | 1 |
9-32633383-C-A | c.2195G>T | p.G732V | Missense | 1/1 | - | 2 |
9-32633385-CA-C | c.2193del | p.G732Efs*51 | Frameshift | 1/1 | - | 1 |
9-32633386-G-A | c.2192C>T | p.P731L | Missense | 1/1 | - | 1 |
9-32633387-G-T | c.2191C>A | p.P731T | Missense | 1/1 | - | 1 |
9-32633390-C-A | c.2188G>T | p.D730Y | Missense | 1/1 | - | 4 |
9-32633398-G-T | c.2180C>A | p.P727H | Missense | 1/1 | - | 1 |
9-32633399-G-A | c.2179C>T | p.P727S | Missense | 1/1 | - | 1 |
9-32633403-C-T | c.2175G>A | p.R725= | Synonymous | 1/1 | - | 1 |
9-32633404-C-T | c.2174G>A | p.R725Q | Missense | 1/1 | - | 3 |
9-32633411-A-G | c.2167T>C | p.Y723H | Missense | 1/1 | - | 1 |
9-32633415-G-C | c.2163C>G | p.N721K | Missense | 1/1 | - | 2 |
9-32633415-G-T | c.2163C>A | p.N721K | Missense | 1/1 | - | 1 |
9-32633416-T-G | c.2162A>C | p.N721T | Missense | 1/1 | - | 1 |
9-32633417-T-A | c.2161A>T | p.N721Y | Missense | 1/1 | - | 1 |
9-32633417-T-C | c.2161A>G | p.N721D | Missense | 1/1 | - | 1 |
9-32633424-C-A | c.2154G>T | p.K718N | Missense | 1/1 | - | 1 |
9-32633424-C-G | c.2154G>C | p.K718N | Missense | 1/1 | - | 1 |
9-32633424-C-T | c.2154G>A | p.K718= | Synonymous | 1/1 | - | 1 |
9-32633423-TCTTGGTTGCCATGCCAA-T | c.2138_2154del | p.V713Dfs*6 | Frameshift | 1/1 | - | 1 |
9-32633425-T-C | c.2153A>G | p.K718R | Missense | 1/1 | - | 1 |
9-32633425-T-G | c.2153A>C | p.K718T | Missense | 1/1 | - | 1 |
9-32633430-T-A | c.2148A>T | p.A716= | Synonymous | 1/1 | - | 1 |
9-32633431-G-T | c.2147C>A | p.A716E | Missense | 1/1 | - | 2 |
9-32633433-C-A | c.2145G>T | p.M715I | Missense | 1/1 | - | 1 |
9-32633435-T-G | c.2143A>C | p.M715L | Missense | 1/1 | - | 1 |
9-32633437-C-A | c.2141G>T | p.G714V | Missense | 1/1 | - | 1 |
9-32633438-C-A | c.2140G>T | p.G714C | Missense | 1/1 | - | 1 |
9-32633442-C-A | c.2136G>T | p.Q712H | Missense | 1/1 | - | 1 |
9-32633445-C-A | c.2133G>T | p.M711I | Missense | 1/1 | - | 2 |
9-32633445-C-G | c.2133G>C | p.M711I | Missense | 1/1 | - | 2 |
9-32633445-C-T | c.2133G>A | p.M711I | Missense | 1/1 | - | 2 |
9-32633441-CCTGCATCATTAAGGGTCCATTTTCCTCACTATATT-C | c.2102_2136del | p.E701Gfs*12 | Frameshift | 1/1 | - | 1 |
9-32633448-C-A | c.2130G>T | p.M710I | Missense | 1/1 | - | 2 |
9-32633448-C-G | c.2130G>C | p.M710I | Missense | 1/1 | - | 2 |
9-32633448-C-T | c.2130G>A | p.M710I | Missense | 1/1 | - | 7 |
9-32633451-T-A | c.2127A>T | p.L709F | Missense | 1/1 | - | 1 |
9-32633451-T-G | c.2127A>C | p.L709F | Missense | 1/1 | - | 1 |
9-32633455-G-A | c.2123C>T | p.P708L | Missense | 1/1 | - | 2 |
9-32633458-C-T | c.2120G>A | p.G707E | Missense | 1/1 | - | 1 |
9-32633460-A-C | c.2118T>G | p.N706K | Missense | 1/1 | - | 1 |
9-32633460-A-T | c.2118T>A | p.N706K | Missense | 1/1 | - | 1 |
9-32633465-C-A | c.2113G>T | p.E705* | Nonsense | 1/1 | - | 2 |
9-32633465-C-T | c.2113G>A | p.E705K | Missense | 1/1 | - | 2 |
9-32633466-C-A | c.2112G>T | p.E704D | Missense | 1/1 | - | 2 |
9-32633466-C-G | c.2112G>C | p.E704D | Missense | 1/1 | - | 2 |
9-32633466-C-T | c.2112G>A | p.E704= | Synonymous | 1/1 | - | 1 |
9-32633468-C-T | c.2110G>A | p.E704K | Missense | 1/1 | - | 2 |
9-32633474-A-T | c.2104T>A | p.Y702N | Missense | 1/1 | - | 3 |
9-32633479-G-C | c.2099C>G | p.A700G | Missense | 1/1 | - | 1 |
9-32633483-G-T | c.2095C>A | p.L699I | Missense | 1/1 | - | 1 |
9-32633487-A-C | c.2091T>G | p.L697= | Synonymous | 1/1 | - | 1 |
9-32633487-A-G | c.2091T>C | p.L697= | Synonymous | 1/1 | - | 1 |
9-32633487-A-T | c.2091T>A | p.L697= | Synonymous | 1/1 | - | 1 |
9-32633489-G-T | c.2089C>A | p.L697I | Missense | 1/1 | - | 3 |
9-32633492-C-A | c.2086G>T | p.D696Y | Missense | 1/1 | - | 1 |
9-32633493-T-A | c.2085A>T | p.G695= | Synonymous | 1/1 | - | 2 |
9-32633493-T-C | c.2085A>G | p.G695= | Synonymous | 1/1 | - | 2 |
9-32633493-T-G | c.2085A>C | p.G695= | Synonymous | 1/1 | - | 2 |
9-32633494-C-T | c.2084G>A | p.G695E | Missense | 1/1 | - | 1 |
9-32633495-C-A | c.2083G>T | p.G695* | Nonsense | 1/1 | - | 1 |
9-32633499-T-A | c.2079A>T | p.K693N | Missense | 1/1 | - | 1 |
9-32633499-T-G | c.2079A>C | p.K693N | Missense | 1/1 | - | 1 |
9-32633503-C-T | c.2075G>A | p.G692D | Missense | 1/1 | - | 1 |
9-32633504-C-T | c.2074G>A | p.G692S | Missense | 1/1 | - | 1 |
9-32633507-T-G | c.2071A>C | p.T691P | Missense | 1/1 | - | 1 |
9-32633508-G-C | c.2070C>G | p.L690= | Synonymous | 1/1 | - | 1 |
9-32633513-C-A | c.2065G>T | p.D689Y | Missense | 1/1 | - | 1 |
9-32633513-C-T | c.2065G>A | p.D689N | Missense | 1/1 | - | 6 |
9-32633514-C-T | c.2064G>A | p.Q688= | Synonymous | 1/1 | - | 1 |
9-32633516-G-A | c.2062C>T | p.Q688* | Nonsense | 1/1 | - | 1 |
9-32633518-G-T | c.2060C>A | p.P687H | Missense | 1/1 | - | 1 |
9-32633519-G-A | c.2059C>T | p.P687S | Missense | 1/1 | - | 3 |
9-32633519-G-T | c.2059C>A | p.P687T | Missense | 1/1 | - | 2 |
9-32633520-T-A | c.2058A>T | p.T686= | Synonymous | 1/1 | - | 1 |
9-32633520-T-C | c.2058A>G | p.T686= | Synonymous | 1/1 | - | 1 |
9-32633520-T-G | c.2058A>C | p.T686= | Synonymous | 1/1 | - | 1 |
9-32633523-G-A | c.2055C>T | p.R685= | Synonymous | 1/1 | - | 1 |
9-32633523-G-C | c.2055C>G | p.R685= | Synonymous | 1/1 | - | 1 |
9-32633523-G-T | c.2055C>A | p.R685= | Synonymous | 1/1 | - | 1 |
9-32633524-C-A | c.2054G>T | p.R685L | Missense | 1/1 | - | 2 |
9-32633524-C-T | c.2054G>A | p.R685H | Missense | 1/1 | - | 3 |
9-32633525-G-A | c.2053C>T | p.R685C | Missense | 1/1 | - | 8 |
9-32633525-G-C | c.2053C>G | p.R685G | Missense | 1/1 | - | 1 |
9-32633530-A-C | c.2048T>G | p.F683C | Missense | 1/1 | - | 2 |
9-32633528-TA-T | c.2049del | p.F683Lfs*27 | Frameshift | 1/1 | - | 2 |
9-32633532-A-C | c.2046T>G | p.F682L | Missense | 1/1 | - | 1 |
9-32633532-A-T | c.2046T>A | p.F682L | Missense | 1/1 | - | 1 |
9-32633534-A-G | c.2044T>C | p.F682L | Missense | 1/1 | - | 1 |
9-32633535-C-A | c.2043G>T | p.L681F | Missense | 1/1 | - | 1 |
9-32633535-C-G | c.2043G>C | p.L681F | Missense | 1/1 | - | 1 |
9-32633545-C-G | c.2033G>C | p.G678A | Missense | 1/1 | - | 3 |
9-32633549-C-G | c.2029G>C | p.G677R | Missense | 1/1 | - | 2 |
9-32633550-T-A | c.2028A>T | p.S676= | Synonymous | 1/1 | - | 1 |
9-32633550-T-C | c.2028A>G | p.S676= | Synonymous | 1/1 | - | 2 |
9-32633550-T-G | c.2028A>C | p.S676= | Synonymous | 1/1 | - | 1 |
9-32633551-G-A | c.2027C>T | p.S676L | Missense | 1/1 | - | 1 |
9-32633551-G-T | c.2027C>A | p.S676* | Nonsense | 1/1 | - | 2 |
9-32633555-C-A | c.2023G>T | p.A675S | Missense | 1/1 | - | 1 |
9-32633556-T-C | c.2022A>G | p.Q674= | Synonymous | 1/1 | - | 1 |
9-32633560-C-A | c.2018G>T | p.R673M | Missense | 1/1 | - | 1 |
9-32633560-C-T | c.2018G>A | p.R673K | Missense | 1/1 | - | 1 |
9-32633562-C-A | c.2016G>T | p.E672D | Missense | 1/1 | - | 1 |
9-32633562-C-G | c.2016G>C | p.E672D | Missense | 1/1 | - | 1 |
9-32633562-C-T | c.2016G>A | p.E672= | Synonymous | 1/1 | - | 1 |
9-32633564-C-A | c.2014G>T | p.E672* | Nonsense | 1/1 | - | 1 |
9-32633565-T-A | c.2013A>T | p.Q671H | Missense | 1/1 | - | 1 |
9-32633565-T-C | c.2013A>G | p.Q671= | Synonymous | 1/1 | - | 3 |
9-32633565-T-G | c.2013A>C | p.Q671H | Missense | 1/1 | - | 1 |
9-32633568-T-A | c.2010A>T | p.E670D | Missense | 1/1 | - | 3 |
9-32633568-T-G | c.2010A>C | p.E670D | Missense | 1/1 | - | 3 |
9-32633572-C-G | c.2006G>C | p.R669T | Missense | 1/1 | - | 1 |
9-32633574-C-A | c.2004G>T | p.M668I | Missense | 1/1 | - | 1 |
9-32633574-C-G | c.2004G>C | p.M668I | Missense | 1/1 | - | 2 |
9-32633574-C-T | c.2004G>A | p.M668I | Missense | 1/1 | - | 2 |
9-32633576-T-C | c.2002A>G | p.M668V | Missense | 1/1 | - | 1 |
9-32633577-C-A | c.2001G>T | p.K667N | Missense | 1/1 | - | 1 |
9-32633577-C-G | c.2001G>C | p.K667N | Missense | 1/1 | - | 1 |
9-32633577-C-T | c.2001G>A | p.K667= | Synonymous | 1/1 | - | 1 |
9-32633582-C-CT | c.1995_1996insA | p.A666Sfs*38 | Frameshift | 1/1 | - | 1 |
9-32633582-C-T | c.1996G>A | p.A666T | Missense | 1/1 | - | 3 |
9-32633583-C-T | c.1995G>A | p.K665= | Synonymous | 1/1 | - | 1 |
9-32633585-T-C | c.1993A>G | p.K665E | Missense | 1/1 | - | 2 |
9-32633585-T-TA | c.1992_1993insT | p.K665* | Nonsense | 1/1 | - | 5 |
9-32633583-C-CT | c.1994dup | p.A666Gfs*38 | Frameshift | 1/1 | - | 8 |
9-32633583-CT-C | c.1994del | p.K665Rfs*4 | Frameshift | 1/1 | - | 12 |
9-32633592-G-A | c.1986C>T | p.I662= | Synonymous | 1/1 | - | 1 |
9-32633592-G-T | c.1986C>A | p.I662= | Synonymous | 1/1 | - | 3 |
9-32633592-TG-T | c.1986del | p.K665Rfs*4 | Frameshift | 1/1 | - | 1 |
9-32633593-A-T | c.1985T>A | p.I662N | Missense | 1/1 | - | 2 |
9-32633601-T-A | c.1977A>T | p.L659= | Synonymous | 1/1 | - | 1 |
9-32633601-T-C | c.1977A>G | p.L659= | Synonymous | 1/1 | - | 1 |
9-32633601-T-G | c.1977A>C | p.L659= | Synonymous | 1/1 | - | 1 |
9-32633603-G-A | c.1975C>T | p.L659= | Synonymous | 1/1 | - | 1 |
9-32633608-G-A | c.1970C>T | p.P657L | Missense | 1/1 | - | 1 |
9-32633609-G-A | c.1969C>T | p.P657S | Missense | 1/1 | - | 3 |
9-32633609-G-T | c.1969C>A | p.P657T | Missense | 1/1 | - | 1 |
9-32633610-T-A | c.1968A>T | p.Q656H | Missense | 1/1 | - | 5 |
9-32633610-T-G | c.1968A>C | p.Q656H | Missense | 1/1 | - | 4 |
9-32633613-G-A | c.1965C>T | p.V655= | Synonymous | 1/1 | - | 4 |
9-32633614-A-C | c.1964T>G | p.V655G | Missense | 1/1 | - | 1 |
9-32633616-T-C | c.1962A>G | p.S654= | Synonymous | 1/1 | - | 4 |
9-32633618-A-C | c.1960T>G | p.S654A | Missense | 1/1 | - | 2 |
9-32633619-AATGGGGACCT-A | c.1950_1959del | p.G651Qfs*6 | Frameshift | 1/1 | - | 1 |
9-32633623-G-A | c.1955C>T | p.P652L | Missense | 1/1 | - | 2 |
9-32633626-C-A | c.1952G>T | p.G651V | Missense | 1/1 | - | 1 |
9-32633629-G-A | c.1949C>T | p.P650L | Missense | 1/1 | - | 1 |
9-32633631-C-A | c.1947G>T | p.Q649H | Missense | 1/1 | - | 1 |
9-32633633-G-A | c.1945C>T | p.Q649* | Nonsense | 1/1 | - | 1 |
9-32633633-G-C | c.1945C>G | p.Q649E | Missense | 1/1 | - | 1 |
9-32633635-G-C | c.1943C>G | p.S648C | Missense | 1/1 | - | 1 |
9-32633637-G-A | c.1941C>T | p.L647= | Synonymous | 1/1 | - | 1 |
9-32633637-G-C | c.1941C>G | p.L647= | Synonymous | 1/1 | - | 2 |
9-32633637-G-T | c.1941C>A | p.L647= | Synonymous | 1/1 | - | 1 |
9-32633639-G-A | c.1939C>T | p.L647F | Missense | 1/1 | - | 2 |
9-32633641-G-T | c.1937C>A | p.A646E | Missense | 1/1 | - | 2 |
9-32633644-C-T | c.1934G>A | p.G645D | Missense | 1/1 | - | 1 |
9-32633647-A-C | c.1931T>G | p.F644C | Missense | 1/1 | - | 1 |
9-32633653-T-A | c.1925A>T | p.Y642F | Missense | 1/1 | - | 1 |
9-32633655-CT-C | c.1922del | p.K641Sfs*19 | Frameshift | 1/1 | - | 1 |
9-32633665-G-A | c.1913C>T | p.P638L | Missense | 1/1 | - | 1 |
9-32633666-G-A | c.1912C>T | p.P638S | Missense | 1/1 | - | 3 |
9-32633669-G-A | c.1909C>T | p.P637S | Missense | 1/1 | - | 2 |
9-32633670-G-A | c.1908C>T | p.R636= | Synonymous | 1/1 | - | 1 |
9-32633671-C-T | c.1907G>A | p.R636H | Missense | 1/1 | - | 6 |
9-32633672-G-A | c.1906C>T | p.R636C | Missense | 1/1 | - | 8 |
9-32633675-G-A | c.1903C>T | p.H635Y | Missense | 1/1 | - | 1 |
9-32633675-G-GT | c.1902_1903insA | p.H635Tfs*69 | Frameshift | 1/1 | - | 1 |
9-32633678-A-T | c.1900T>A | p.F634I | Missense | 1/1 | - | 1 |
9-32633681-G-A | c.1897C>T | p.Q633* | Nonsense | 1/1 | - | 3 |
9-32633683-C-T | c.1895G>A | p.R632Q | Missense | 1/1 | - | 2 |
9-32633684-G-A | c.1894C>T | p.R632W | Missense | 1/1 | - | 4 |
9-32633685-G-A | c.1893C>T | p.I631= | Synonymous | 1/1 | - | 4 |
9-32633685-G-C | c.1893C>G | p.I631M | Missense | 1/1 | - | 1 |
9-32633687-T-A | c.1891A>T | p.I631F | Missense | 1/1 | - | 1 |
9-32633687-T-G | c.1891A>C | p.I631L | Missense | 1/1 | - | 1 |
9-32633691-G-A | c.1887C>T | p.I629= | Synonymous | 1/1 | - | 2 |
9-32633691-G-C | c.1887C>G | p.I629M | Missense | 1/1 | - | 2 |
9-32633692-A-G | c.1886T>C | p.I629T | Missense | 1/1 | - | 1 |
9-32633696-G-A | c.1882C>T | p.P628S | Missense | 1/1 | - | 4 |
9-32633699-C-G | c.1879G>C | p.G627R | Missense | 1/1 | - | 2 |
9-32633699-C-T | c.1879G>A | p.G627R | Missense | 1/1 | - | 3 |
9-32633704-T-G | c.1874A>C | p.H625P | Missense | 1/1 | - | 1 |
9-32633705-G-A | c.1873C>T | p.H625Y | Missense | 1/1 | - | 4 |
9-32633705-G-C | c.1873C>G | p.H625D | Missense | 1/1 | - | 3 |
9-32633708-T-G | c.1870A>C | p.T624P | Missense | 1/1 | - | 1 |
9-32633710-GG-TA | c.1867_1868delinsTA | p.P623Y | Missense | 1/1 | - | 1 |
9-32633715-G-A | c.1863C>T | p.F621= | Synonymous | 1/1 | - | 2 |
9-32633720-G-A | c.1858C>T | p.P620S | Missense | 1/1 | - | 1 |
9-32633720-G-C | c.1858C>G | p.P620A | Missense | 1/1 | - | 1 |
9-32633726-A-G | c.1852T>C | p.W618R | Missense | 1/1 | - | 1 |
9-32633726-A-T | c.1852T>A | p.W618R | Missense | 1/1 | - | 1 |
9-32633732-C-T | c.1846G>A | p.E616K | Missense | 1/1 | - | 1 |
9-32633733-C-A | c.1845G>T | p.M615I | Missense | 1/1 | - | 1 |
9-32633733-C-G | c.1845G>C | p.M615I | Missense | 1/1 | - | 1 |
9-32633733-C-T | c.1845G>A | p.M615I | Missense | 1/1 | - | 1 |
9-32633735-T-C | c.1843A>G | p.M615V | Missense | 1/1 | - | 1 |
9-32633737-G-A | c.1841C>T | p.A614V | Missense | 1/1 | - | 1 |
9-32633737-G-C | c.1841C>G | p.A614G | Missense | 1/1 | - | 1 |
9-32633737-G-T | c.1841C>A | p.A614D | Missense | 1/1 | - | 3 |
9-32633738-C-A | c.1840G>T | p.A614S | Missense | 1/1 | - | 1 |
9-32633738-C-T | c.1840G>A | p.A614T | Missense | 1/1 | - | 1 |
9-32633740-G-A | c.1838C>T | p.P613L | Missense | 1/1 | - | 1 |
9-32633740-G-T | c.1838C>A | p.P613H | Missense | 1/1 | - | 1 |
9-32633741-G-A | c.1837C>T | p.P613S | Missense | 1/1 | - | 1 |
9-32633741-G-T | c.1837C>A | p.P613T | Missense | 1/1 | - | 1 |
9-32633744-T-C | c.1834A>G | p.I612V | Missense | 1/1 | - | 1 |
9-32633746-G-C | c.1832C>G | p.S611* | Nonsense | 1/1 | - | 1 |
9-32633746-G-T | c.1832C>A | p.S611* | Nonsense | 1/1 | - | 1 |
9-32633750-G-C | c.1828C>G | p.H610D | Missense | 1/1 | - | 1 |
9-32633755-A-G | c.1823T>C | p.I608T | Missense | 1/1 | - | 2 |
9-32633761-T-G | c.1817A>C | p.N606T | Missense | 1/1 | - | 1 |
9-32633763-C-T | c.1815G>A | p.G605= | Synonymous | 1/1 | - | 1 |
9-32633764-C-T | c.1814G>A | p.G605E | Missense | 1/1 | - | 5 |
9-32633765-C-A | c.1813G>T | p.G605W | Missense | 1/1 | - | 1 |
9-32633767-C-T | c.1811G>A | p.G604E | Missense | 1/1 | - | 1 |
9-32633772-G-A | c.1806C>T | p.T602= | Synonymous | 1/1 | - | 4 |
9-32633772-G-C | c.1806C>G | p.T602= | Synonymous | 1/1 | - | 2 |
9-32633772-G-T | c.1806C>A | p.T602= | Synonymous | 1/1 | - | 4 |
9-32633775-G-A | c.1803C>T | p.G601= | Synonymous | 1/1 | - | 2 |
9-32633776-C-G | c.1802G>C | p.G601A | Missense | 1/1 | - | 1 |
9-32633777-C-T | c.1801G>A | p.G601S | Missense | 1/1 | - | 1 |
9-32633779-C-T | c.1799G>A | p.R600Q | Missense | 1/1 | - | 3 |
9-32633780-G-A | c.1798C>T | p.R600W | Missense | 1/1 | - | 5 |
9-32633783-G-T | c.1795C>A | p.L599I | Missense | 1/1 | - | 1 |
9-32633785-C-G | c.1793G>C | p.G598A | Missense | 1/1 | - | 1 |
9-32633786-C-A | c.1792G>T | p.G598C | Missense | 1/1 | - | 1 |
9-32633787-C-A | c.1791G>T | p.Q597H | Missense | 1/1 | - | 1 |
9-32633787-C-G | c.1791G>C | p.Q597H | Missense | 1/1 | - | 1 |
9-32633787-C-T | c.1791G>A | p.Q597= | Synonymous | 1/1 | - | 2 |
9-32633789-G-T | c.1789C>A | p.Q597K | Missense | 1/1 | - | 1 |
9-32633790-T-A | c.1788A>T | p.Q596H | Missense | 1/1 | - | 4 |
9-32633790-T-G | c.1788A>C | p.Q596H | Missense | 1/1 | - | 3 |
9-32633792-G-T | c.1786C>A | p.Q596K | Missense | 1/1 | - | 3 |
9-32633798-G-A | c.1780C>T | p.P594S | Missense | 1/1 | - | 5 |
9-32633799-G-A | c.1779C>T | p.F593= | Synonymous | 1/1 | - | 1 |
9-32633799-G-T | c.1779C>A | p.F593L | Missense | 1/1 | - | 1 |
9-32633813-C-T | c.1765G>A | p.D589N | Missense | 1/1 | - | 7 |
9-32633814-A-C | c.1764T>G | p.N588K | Missense | 1/1 | - | 1 |
9-32633814-A-T | c.1764T>A | p.N588K | Missense | 1/1 | - | 1 |
9-32633817-GG-TT | c.1760_1761delinsAA | p.S587* | Nonsense | 1/1 | - | 2 |
9-32633818-G-C | c.1760C>G | p.S587C | Missense | 1/1 | - | 2 |
9-32633822-G-A | c.1756C>T | p.L586F | Missense | 1/1 | - | 2 |
9-32633822-G-T | c.1756C>A | p.L586I | Missense | 1/1 | - | 1 |
9-32633823-A-G | c.1755T>C | p.N585= | Synonymous | 1/1 | - | 1 |
9-32633831-G-A | c.1747C>T | p.P583S | Missense | 1/1 | - | 3 |
9-32633834-C-A | c.1744G>T | p.D582Y | Missense | 1/1 | - | 1 |
9-32633834-C-G | c.1744G>C | p.D582H | Missense | 1/1 | - | 1 |
9-32633849-G-C | c.1729C>G | p.Q577E | Missense | 1/1 | - | 1 |
9-32633851-G-A | c.1727C>T | p.S576F | Missense | 1/1 | - | 2 |
9-32633851-G-T | c.1727C>A | p.S576Y | Missense | 1/1 | - | 1 |
9-32633859-C-A | c.1719G>T | p.Q573H | Missense | 1/1 | - | 1 |
9-32633859-C-G | c.1719G>C | p.Q573H | Missense | 1/1 | - | 1 |
9-32633861-G-C | c.1717C>G | p.Q573E | Missense | 1/1 | - | 1 |
9-32633866-G-A | c.1712C>T | p.P571L | Missense | 1/1 | - | 1 |
9-32633871-C-T | c.1707G>A | p.E569= | Synonymous | 1/1 | - | 1 |
9-32633874-C-T | c.1704G>A | p.R568= | Synonymous | 1/1 | - | 1 |
9-32633876-T-G | c.1702A>C | p.R568= | Synonymous | 1/1 | - | 1 |
9-32633875-C-A | c.1703G>T | p.R568M | Missense | 1/1 | - | 1 |
9-32633880-G-A | c.1698C>T | p.V566= | Synonymous | 1/1 | - | 1 |
9-32633882-C-CA | c.1695dup | p.V566Cfs*24 | Frameshift | 1/1 | - | 1 |
9-32633885-C-T | c.1693G>A | p.G565S | Missense | 1/1 | - | 1 |
9-32633888-T-A | c.1690A>T | p.T564S | Missense | 1/1 | - | 1 |
9-32633890-T-A | c.1688A>T | p.K563I | Missense | 1/1 | - | 1 |
9-32633894-C-A | c.1684G>T | p.G562C | Missense | 1/1 | - | 1 |
9-32633900-G-A | c.1678C>T | p.L560F | Missense | 1/1 | - | 10 |
9-32633905-C-A | c.1673G>T | p.R558L | Missense | 1/1 | - | 5 |
9-32633905-C-T | c.1673G>A | p.R558Q | Missense | 1/1 | - | 14 |
9-32633908-C-T | c.1670G>A | p.S557N | Missense | 1/1 | - | 1 |
9-32633918-G-A | c.1660C>T | p.L554= | Synonymous | 1/1 | - | 1 |
9-32633918-G-C | c.1660C>G | p.L554V | Missense | 1/1 | - | 7 |
9-32633920-G-A | c.1658C>T | p.S553F | Missense | 1/1 | - | 2 |
9-32633940-C-T | c.1638G>A | p.K546= | Synonymous | 1/1 | - | 2 |
9-32633942-T-G | c.1636A>C | p.K546Q | Missense | 1/1 | - | 1 |
9-32633944-G-A | c.1634C>T | p.S545F | Missense | 1/1 | - | 1 |
9-32633944-G-C | c.1634C>G | p.S545C | Missense | 1/1 | - | 1 |
9-32633944-G-T | c.1634C>A | p.S545Y | Missense | 1/1 | - | 1 |
9-32633946-G-A | c.1632C>T | p.P544= | Synonymous | 1/1 | - | 1 |
9-32633946-G-C | c.1632C>G | p.P544= | Synonymous | 1/1 | - | 1 |
9-32633946-G-T | c.1632C>A | p.P544= | Synonymous | 1/1 | - | 1 |
9-32633948-G-A | c.1630C>T | p.P544S | Missense | 1/1 | - | 1 |
9-32633949-G-A | c.1629C>T | p.S543= | Synonymous | 1/1 | - | 1 |
9-32633952-G-C | c.1626C>G | p.N542K | Missense | 1/1 | - | 3 |
9-32633952-G-T | c.1626C>A | p.N542K | Missense | 1/1 | - | 3 |
9-32633957-A-T | c.1621T>A | p.S541T | Missense | 1/1 | - | 1 |
9-32633958-G-A | c.1620C>T | p.T540= | Synonymous | 1/1 | - | 1 |
9-32633958-GG-CA | c.1619_1620delinsTG | p.T540M | Missense | 1/1 | - | 1 |
9-32633962-G-A | c.1616C>T | p.A539V | Missense | 1/1 | - | 3 |
9-32633966-C-A | c.1612G>T | p.E538* | Nonsense | 1/1 | - | 2 |
9-32633969-C-T | c.1609G>A | p.E537K | Missense | 1/1 | - | 3 |
9-32633973-C-T | c.1605G>A | p.E535= | Synonymous | 1/1 | - | 1 |
9-32633981-G-A | c.1597C>T | p.P533S | Missense | 1/1 | - | 11 |
9-32633981-G-T | c.1597C>A | p.P533T | Missense | 1/1 | - | 1 |
9-32633983-A-G | c.1595T>C | p.I532T | Missense | 1/1 | - | 1 |
9-32633983-A-T | c.1595T>A | p.I532N | Missense | 1/1 | - | 3 |
9-32633983-AT-A | c.1594del | p.I532Ffs*23 | Frameshift | 1/1 | - | 1 |
9-32633987-C-G | c.1591G>C | p.E531Q | Missense | 1/1 | - | 1 |
9-32633987-C-T | c.1591G>A | p.E531K | Missense | 1/1 | - | 5 |
9-32633988-C-A | c.1590G>T | p.L530F | Missense | 1/1 | - | 1 |
9-32633988-C-G | c.1590G>C | p.L530F | Missense | 1/1 | - | 1 |
9-32633991-A-G | c.1587T>C | p.I529= | Synonymous | 1/1 | - | 1 |
9-32633998-T-C | c.1580A>G | p.N527S | Missense | 1/1 | - | 1 |
9-32634000-C-T | c.1578G>A | p.E526= | Synonymous | 1/1 | - | 1 |
9-32634010-G-A | c.1568C>T | p.P523L | Missense | 1/1 | - | 1 |
9-32634011-G-A | c.1567C>T | p.P523S | Missense | 1/1 | - | 1 |
9-32634014-C-G | c.1564G>C | p.D522H | Missense | 1/1 | - | 2 |
9-32634014-C-T | c.1564G>A | p.D522N | Missense | 1/1 | - | 2 |
9-32634019-G-A | c.1559C>T | p.A520V | Missense | 1/1 | - | 1 |
9-32634022-A-T | c.1556T>A | p.L519* | Nonsense | 1/1 | - | 1 |
9-32634031-G-A | c.1547C>T | p.P516L | Missense | 1/1 | - | 1 |
9-32634031-G-T | c.1547C>A | p.P516H | Missense | 1/1 | - | 1 |
9-32634032-G-A | c.1546C>T | p.P516S | Missense | 1/1 | - | 2 |
9-32634041-G-A | c.1537C>T | p.L513= | Synonymous | 1/1 | - | 1 |
9-32634043-C-T | c.1535G>A | p.R512Q | Missense | 1/1 | - | 3 |
9-32634044-G-A | c.1534C>T | p.R512W | Missense | 1/1 | - | 2 |
9-32634045-G-A | c.1533C>T | p.P511= | Synonymous | 1/1 | - | 1 |
9-32634045-G-C | c.1533C>G | p.P511= | Synonymous | 1/1 | - | 1 |
9-32634045-G-T | c.1533C>A | p.P511= | Synonymous | 1/1 | - | 1 |
9-32634047-G-A | c.1531C>T | p.P511S | Missense | 1/1 | - | 1 |
9-32634053-C-G | c.1525G>C | p.A509P | Missense | 1/1 | - | 1 |
9-32634053-C-T | c.1525G>A | p.A509T | Missense | 1/1 | - | 2 |
9-32634054-C-A | c.1524G>T | p.Q508H | Missense | 1/1 | - | 1 |
9-32634054-C-T | c.1524G>A | p.Q508= | Synonymous | 1/1 | - | 1 |
9-32634064-C-T | c.1514G>A | p.W505* | Nonsense | 1/1 | - | 5 |
9-32634069-G-A | c.1509C>T | p.I503= | Synonymous | 1/1 | - | 4 |
9-32634069-G-T | c.1509C>A | p.I503= | Synonymous | 1/1 | - | 1 |
9-32634074-T-C | c.1504A>G | p.N502D | Missense | 1/1 | - | 1 |
9-32634077-C-T | c.1501G>A | p.D501N | Missense | 1/1 | - | 2 |
9-32634080-C-T | c.1498G>A | p.E500K | Missense | 1/1 | - | 2 |
9-32634084-G-T | c.1494C>A | p.R498= | Synonymous | 1/1 | - | 2 |
9-32634085-C-A | c.1493G>T | p.R498L | Missense | 1/1 | - | 1 |
9-32634086-G-A | c.1492C>T | p.R498C | Missense | 1/1 | - | 1 |
9-32634086-G-T | c.1492C>A | p.R498S | Missense | 1/1 | - | 1 |
9-32634088-C-A | c.1490G>T | p.G497V | Missense | 1/1 | - | 1 |
9-32634088-C-T | c.1490G>A | p.G497E | Missense | 1/1 | - | 1 |
9-32634091-T-C | c.1487A>G | p.Y496C | Missense | 1/1 | - | 1 |
9-32634094-A-T | c.1484T>A | p.V495E | Missense | 1/1 | - | 1 |
9-32634099-A-C | c.1479T>G | p.D493E | Missense | 1/1 | - | 1 |
9-32634099-A-T | c.1479T>A | p.D493E | Missense | 1/1 | - | 1 |
9-32634101-C-A | c.1477G>T | p.D493Y | Missense | 1/1 | - | 1 |
9-32634101-C-T | c.1477G>A | p.D493N | Missense | 1/1 | - | 1 |
9-32634102-C-A | c.1476G>T | p.E492D | Missense | 1/1 | - | 1 |
9-32634102-C-G | c.1476G>C | p.E492D | Missense | 1/1 | - | 1 |
9-32634109-T-A | c.1469A>T | p.D490V | Missense | 1/1 | - | 1 |
9-32634109-T-C | c.1469A>G | p.D490G | Missense | 1/1 | - | 1 |
9-32634110-C-A | c.1468G>T | p.D490Y | Missense | 1/1 | - | 1 |
9-32634112-A-G | c.1466T>C | p.I489T | Missense | 1/1 | - | 1 |
9-32634114-G-T | c.1464C>A | p.P488= | Synonymous | 1/1 | - | 4 |
9-32634115-G-A | c.1463C>T | p.P488L | Missense | 1/1 | - | 1 |
9-32634117-A-AAT | c.1460_1461insAT | p.F487Lfs*69 | Frameshift | 1/1 | - | 1 |
9-32634119-A-G | c.1459T>C | p.F487L | Missense | 1/1 | - | 1 |
9-32634121-A-C | c.1457T>G | p.I486S | Missense | 1/1 | - | 1 |
9-32634127-T-TA | c.1450dup | p.Y484Lfs*7 | Frameshift | 1/1 | - | 1 |
9-32634128-A-G | c.1450T>C | p.Y484H | Missense | 1/1 | - | 1 |
9-32634129-C-T | c.1449G>A | p.W483* | Nonsense | 1/1 | - | 1 |
9-32634130-C-T | c.1448G>A | p.W483* | Nonsense | 1/1 | - | 1 |
9-32634133-G-A | c.1445C>T | p.P482L | Missense | 1/1 | - | 1 |
9-32634132-AG-A | c.1445del | p.P482Lfs*73 | Frameshift | 1/1 | - | 1 |
9-32634138-G-T | c.1440C>A | p.D480E | Missense | 1/1 | - | 2 |
9-32634140-C-A | c.1438G>T | p.D480Y | Missense | 1/1 | - | 1 |
9-32634140-C-T | c.1438G>A | p.D480N | Missense | 1/1 | - | 1 |
9-32634143-C-T | c.1435G>A | p.D479N | Missense | 1/1 | - | 1 |
9-32634146-C-T | c.1432G>A | p.D478N | Missense | 1/1 | - | 1 |
9-32634149-G-A | c.1429C>T | p.L477= | Synonymous | 1/1 | - | 1 |
9-32634155-G-C | c.1423C>G | p.P475A | Missense | 1/1 | - | 1 |
9-32634158-C-A | c.1420G>T | p.A474S | Missense | 1/1 | - | 1 |
9-32634169-T-G | c.1409A>C | p.Q470P | Missense | 1/1 | - | 1 |
9-32634170-G-T | c.1408C>A | p.Q470K | Missense | 1/1 | - | 1 |
9-32634177-G-A | c.1401C>T | p.Y467= | Synonymous | 1/1 | - | 1 |
9-32634179-A-G | c.1399T>C | p.Y467H | Missense | 1/1 | - | 3 |
9-32634181-GC-G | c.1396del | p.A466Lfs*89 | Frameshift | 1/1 | - | 1 |
9-32634189-A-G | c.1389T>C | p.N463= | Synonymous | 1/1 | - | 1 |
9-32634191-T-C | c.1387A>G | p.N463D | Missense | 1/1 | - | 2 |
9-32634192-CC-GA | c.1385_1386delinsTC | p.R462I | Missense | 1/1 | - | 1 |
9-32634194-T-C | c.1384A>G | p.R462G | Missense | 1/1 | - | 4 |
9-32634205-G-T | c.1373C>A | p.S458Y | Missense | 1/1 | - | 1 |
9-32634209-G-A | c.1369C>T | p.P457S | Missense | 1/1 | - | 1 |
9-32634209-G-T | c.1369C>A | p.P457T | Missense | 1/1 | - | 1 |
9-32634211-A-C | c.1367T>G | p.L456R | Missense | 1/1 | - | 1 |
9-32634211-A-G | c.1367T>C | p.L456P | Missense | 1/1 | - | 1 |
9-32634213-C-A | c.1365G>T | p.W455C | Missense | 1/1 | - | 2 |
9-32634213-C-G | c.1365G>C | p.W455C | Missense | 1/1 | - | 2 |
9-32634213-C-T | c.1365G>A | p.W455* | Nonsense | 1/1 | - | 1 |
9-32634214-C-G | c.1364G>C | p.W455S | Missense | 1/1 | - | 1 |
9-32634214-C-T | c.1364G>A | p.W455* | Nonsense | 1/1 | - | 1 |
9-32634220-G-T | c.1358C>A | p.A453E | Missense | 1/1 | - | 3 |
9-32634220-GC-G | c.1357del | p.A453Qfs*12 | Frameshift | 1/1 | - | 1 |
9-32634225-G-C | c.1353C>G | p.S451R | Missense | 1/1 | - | 1 |
9-32634225-G-T | c.1353C>A | p.S451R | Missense | 1/1 | - | 1 |
9-32634227-T-G | c.1351A>C | p.S451R | Missense | 1/1 | - | 1 |
9-32634227-T-C | c.1351A>G | p.S451G | Missense | 1/1 | - | 1 |
9-32634230-C-A | c.1348G>T | p.A450S | Missense | 1/1 | - | 1 |
9-32634230-C-G | c.1348G>C | p.A450P | Missense | 1/1 | - | 1 |
9-32634230-C-T | c.1348G>A | p.A450T | Missense | 1/1 | - | 1 |
9-32634231-A-C | c.1347T>G | p.G449= | Synonymous | 1/1 | - | 2 |
9-32634231-A-G | c.1347T>C | p.G449= | Synonymous | 1/1 | - | 2 |
9-32634231-A-T | c.1347T>A | p.G449= | Synonymous | 1/1 | - | 2 |
9-32634232-CC-TT | c.1345_1346delinsAA | p.G449N | Missense | 1/1 | - | 4 |
9-32634232-C-T | c.1346G>A | p.G449D | Missense | 1/1 | - | 2 |
9-32634233-C-T | c.1345G>A | p.G449S | Missense | 1/1 | - | 3 |
9-32634244-G-A | c.1334C>T | p.T445I | Missense | 1/1 | - | 1 |
9-32634244-G-C | c.1334C>G | p.T445R | Missense | 1/1 | - | 3 |
9-32634245-T-A | c.1333A>T | p.T445S | Missense | 1/1 | - | 1 |
9-32634245-T-G | c.1333A>C | p.T445P | Missense | 1/1 | - | 1 |
9-32634247-C-T | c.1331G>A | p.G444E | Missense | 1/1 | - | 6 |
9-32634251-T-C | c.1327A>G | p.K443E | Missense | 1/1 | - | 1 |
9-32634252-G-A | c.1326C>T | p.H442= | Synonymous | 1/1 | - | 1 |
9-32634254-G-A | c.1324C>T | p.H442Y | Missense | 1/1 | - | 1 |
9-32634255-T-C | c.1323A>G | p.K441= | Synonymous | 1/1 | - | 1 |
9-32634258-G-C | c.1320C>G | p.I440M | Missense | 1/1 | - | 3 |
9-32634260-T-C | c.1318A>G | p.I440V | Missense | 1/1 | - | 4 |
9-32634264-C-T | c.1314G>A | p.E438= | Synonymous | 1/1 | - | 1 |
9-32634266-C-T | c.1312G>A | p.E438K | Missense | 1/1 | - | 1 |
9-32634267-CCC-GCT | c.1309_1311delinsAGC | p.G437S | Missense | 1/1 | - | 1 |
9-32634268-C-T | c.1310G>A | p.G437E | Missense | 1/1 | - | 2 |
9-32634265-TC-T | c.1312del | p.E438Rfs*27 | Frameshift | 1/1 | - | 1 |
9-32634269-C-G | c.1309G>C | p.G437R | Missense | 1/1 | - | 1 |
9-32634269-C-T | c.1309G>A | p.G437R | Missense | 1/1 | - | 1 |
9-32634270-A-G | c.1308T>C | p.D436= | Synonymous | 1/1 | - | 2 |
9-32634271-T-G | c.1307A>C | p.D436A | Missense | 1/1 | - | 1 |
9-32634272-C-T | c.1306G>A | p.D436N | Missense | 1/1 | - | 3 |
9-32634273-C-A | c.1305G>T | p.W435C | Missense | 1/1 | - | 1 |
9-32634273-C-G | c.1305G>C | p.W435C | Missense | 1/1 | - | 1 |
9-32634278-T-A | c.1300A>T | p.I434F | Missense | 1/1 | - | 1 |
9-32634278-T-C | c.1300A>G | p.I434V | Missense | 1/1 | - | 4 |
9-32634279-G-A | c.1299C>T | p.I433= | Synonymous | 1/1 | - | 1 |
9-32634279-G-T | c.1299C>A | p.I433= | Synonymous | 1/1 | - | 1 |
9-32634280-A-T | c.1298T>A | p.I433N | Missense | 1/1 | - | 1 |
9-32634285-A-G | c.1293T>C | p.D431= | Synonymous | 1/1 | - | 1 |
9-32634288-C-T | c.1290G>A | p.E430= | Synonymous | 1/1 | - | 1 |
9-32634290-C-G | c.1288G>C | p.E430Q | Missense | 1/1 | - | 1 |
9-32634290-C-T | c.1288G>A | p.E430K | Missense | 1/1 | - | 1 |
9-32634291-C-T | c.1287G>A | p.W429* | Nonsense | 1/1 | - | 1 |
9-32634292-C-A | c.1286G>T | p.W429L | Missense | 1/1 | - | 1 |
9-32634294-A-G | c.1284T>C | p.H428= | Synonymous | 1/1 | - | 1 |
9-32634296-G-A | c.1282C>T | p.H428Y | Missense | 1/1 | - | 1 |
9-32634297-C-T | c.1281G>A | p.L427= | Synonymous | 1/1 | - | 1 |
9-32634309-C-A | c.1269G>T | p.M423I | Missense | 1/1 | - | 1 |
9-32634309-C-G | c.1269G>C | p.M423I | Missense | 1/1 | - | 1 |
9-32634309-C-T | c.1269G>A | p.M423I | Missense | 1/1 | - | 1 |
9-32634313-A-G | c.1265T>C | p.L422P | Missense | 1/1 | - | 1 |
9-32634315-G-A | c.1263C>T | p.F421= | Synonymous | 1/1 | - | 5 |
9-32634320-T-G | c.1258A>C | p.N420H | Missense | 1/1 | - | 1 |
9-32634323-C-T | c.1255G>A | p.E419K | Missense | 1/1 | - | 9 |
9-32634324-G-A | c.1254C>T | p.D418= | Synonymous | 1/1 | - | 4 |
9-32634328-G-A | c.1250C>T | p.A417V | Missense | 1/1 | - | 1 |
9-32634328-GC-G | c.1249del | p.A417Lfs*6 | Frameshift | 1/1 | - | 1 |
9-32634330-CAGA-C | c.1245_1247del | p.L416del | InFrameDeletion | 1/1 | - | 1 |
9-32634335-G-T | c.1243C>A | p.L415I | Missense | 1/1 | - | 2 |
9-32634338-C-T | c.1240G>A | p.D414N | Missense | 1/1 | - | 3 |
9-32634340-G-C | c.1238C>G | p.T413S | Missense | 1/1 | - | 1 |
9-32634343-C-T | c.1235G>A | p.G412D | Missense | 1/1 | - | 3 |
9-32634344-C-T | c.1234G>A | p.G412S | Missense | 1/1 | - | 1 |
9-32634345-A-C | c.1233T>G | p.N411K | Missense | 1/1 | - | 1 |
9-32634345-A-T | c.1233T>A | p.N411K | Missense | 1/1 | - | 1 |
9-32634348-G-C | c.1230C>G | p.S410R | Missense | 1/1 | - | 1 |
9-32634348-G-T | c.1230C>A | p.S410R | Missense | 1/1 | - | 1 |
9-32634350-T-G | c.1228A>C | p.S410R | Missense | 1/1 | - | 1 |
9-32634353-C-T | c.1225G>A | p.E409K | Missense | 1/1 | - | 1 |
9-32634356-C-G | c.1222G>C | p.E408Q | Missense | 1/1 | - | 1 |
9-32634357-AAG-CAT | c.1219_1221delinsATG | p.L407M | Missense | 1/1 | - | 1 |
9-32634360-T-C | c.1218A>G | p.K406= | Synonymous | 1/1 | - | 1 |
9-32634363-C-A | c.1215G>T | p.R405S | Missense | 1/1 | - | 1 |
9-32634363-CCT-ACA | c.1213_1215delinsTGT | p.R405C | Missense | 1/1 | - | 1 |
9-32634363-C-G | c.1215G>C | p.R405S | Missense | 1/1 | - | 1 |
9-32634363-C-T | c.1215G>A | p.R405= | Synonymous | 1/1 | - | 5 |
9-32634367-A-G | c.1211T>C | p.F404S | Missense | 1/1 | - | 1 |
9-32634371-C-T | c.1207G>A | p.E403K | Missense | 1/1 | - | 3 |
9-32634374-C-T | c.1204G>A | p.E402K | Missense | 1/1 | - | 4 |
9-32634375-C-A | c.1203G>T | p.M401I | Missense | 1/1 | - | 1 |
9-32634375-C-G | c.1203G>C | p.M401I | Missense | 1/1 | - | 1 |
9-32634375-C-T | c.1203G>A | p.M401I | Missense | 1/1 | - | 1 |
9-32634378-C-A | c.1200G>T | p.M400I | Missense | 1/1 | - | 1 |
9-32634378-C-G | c.1200G>C | p.M400I | Missense | 1/1 | - | 1 |
9-32634378-C-T | c.1200G>A | p.M400I | Missense | 1/1 | - | 1 |
9-32634381-TCT-ACA | c.1195_1197delinsTGT | p.R399C | Missense | 1/1 | - | 2 |
9-32634383-T-C | c.1195A>G | p.R399G | Missense | 1/1 | - | 1 |
9-32634384-A-G | c.1194T>C | p.S398= | Synonymous | 1/1 | - | 1 |
9-32634385-GA-CG | c.1192_1193delinsCG | p.S398R | Missense | 1/1 | - | 1 |
9-32634386-A-G | c.1192T>C | p.S398P | Missense | 1/1 | - | 3 |
9-32634389-T-G | c.1189A>C | p.K397Q | Missense | 1/1 | - | 2 |
9-32634392-T-A | c.1186A>T | p.I396L | Missense | 1/1 | - | 2 |
9-32634392-T-G | c.1186A>C | p.I396L | Missense | 1/1 | - | 1 |
9-32634394-A-G | c.1184T>C | p.V395A | Missense | 1/1 | - | 2 |
9-32634397-G-A | c.1181C>T | p.P394L | Missense | 1/1 | - | 4 |
9-32634397-G-T | c.1181C>A | p.P394H | Missense | 1/1 | - | 2 |
9-32634398-G-A | c.1180C>T | p.P394S | Missense | 1/1 | - | 2 |
9-32634398-G-T | c.1180C>A | p.P394T | Missense | 1/1 | - | 1 |
9-32634401-C-T | c.1177G>A | p.E393K | Missense | 1/1 | - | 6 |
9-32634402-A-C | c.1176T>G | p.H392Q | Missense | 1/1 | - | 1 |
9-32634407-G-T | c.1171C>A | p.Q391K | Missense | 1/1 | - | 1 |
9-32634411-C-T | c.1167G>A | p.K389= | Synonymous | 1/1 | - | 2 |
9-32634417-C-T | c.1161G>A | p.L387= | Synonymous | 1/1 | - | 1 |
9-32634427-C-A | c.1151G>T | p.G384V | Missense | 1/1 | - | 2 |
9-32634427-C-T | c.1151G>A | p.G384D | Missense | 1/1 | - | 1 |
9-32634428-C-T | c.1150G>A | p.G384S | Missense | 1/1 | - | 1 |
9-32634430-T-C | c.1148A>G | p.Y383C | Missense | 1/1 | - | 1 |
9-32634438-C-A | c.1140G>T | p.G380= | Synonymous | 1/1 | - | 2 |
9-32634440-C-T | c.1138G>A | p.G380R | Missense | 1/1 | - | 1 |
9-32634442-C-A | c.1136G>T | p.S379I | Missense | 1/1 | - | 1 |
9-32634442-C-G | c.1136G>C | p.S379T | Missense | 1/1 | - | 1 |
9-32634442-C-T | c.1136G>A | p.S379N | Missense | 1/1 | - | 1 |
9-32634444-G-A | c.1134C>T | p.G378= | Synonymous | 1/1 | - | 2 |
9-32634444-G-T | c.1134C>A | p.G378= | Synonymous | 1/1 | - | 1 |
9-32634446-C-A | c.1132G>T | p.G378C | Missense | 1/1 | - | 1 |
9-32634452-C-T | c.1126G>A | p.E376K | Missense | 1/1 | - | 11 |
9-32634465-C-A | c.1113G>T | p.M371I | Missense | 1/1 | - | 1 |
9-32634465-C-G | c.1113G>C | p.M371I | Missense | 1/1 | - | 1 |
9-32634465-C-T | c.1113G>A | p.M371I | Missense | 1/1 | - | 2 |
9-32634466-A-T | c.1112T>A | p.M371K | Missense | 1/1 | - | 2 |
9-32634467-T-C | c.1111A>G | p.M371V | Missense | 1/1 | - | 13 |
9-32634468-A-G | c.1110T>C | p.D370= | Synonymous | 1/1 | - | 1 |
9-32634470-C-A | c.1108G>T | p.D370Y | Missense | 1/1 | - | 1 |
9-32634470-C-T | c.1108G>A | p.D370N | Missense | 1/1 | - | 6 |
9-32634471-A-G | c.1107T>C | p.Y369= | Synonymous | 1/1 | - | 3 |
9-32634477-CAG-AAA | c.1099_1101delinsTTT | p.L367F | Missense | 1/1 | - | 1 |
9-32634480-TCG-CCA | c.1096_1098delinsTGG | p.R366W | Missense | 1/1 | - | 1 |
9-32634481-C-T | c.1097G>A | p.R366Q | Missense | 1/1 | - | 3 |
9-32634482-G-C | c.1096C>G | p.R366G | Missense | 1/1 | - | 1 |
9-32634484-G-A | c.1094C>T | p.A365V | Missense | 1/1 | - | 1 |
9-32634485-C-T | c.1093G>A | p.A365T | Missense | 1/1 | - | 1 |
9-32634487-G-A | c.1091C>T | p.P364L | Missense | 1/1 | - | 1 |
9-32634489-C-T | c.1089G>A | p.G363= | Synonymous | 1/1 | - | 2 |
9-32634496-C-T | c.1082G>A | p.R361H | Missense | 1/1 | - | 1 |
9-32634497-G-A | c.1081C>T | p.R361C | Missense | 1/1 | - | 3 |
9-32634497-G-T | c.1081C>A | p.R361S | Missense | 1/1 | - | 1 |
9-32634506-C-A | c.1072G>T | p.A358S | Missense | 1/1 | - | 1 |
9-32634506-C-T | c.1072G>A | p.A358T | Missense | 1/1 | - | 1 |
9-32634516-T-A | c.1062A>T | p.K354N | Missense | 1/1 | - | 1 |
9-32634517-T-A | c.1061A>T | p.K354I | Missense | 1/1 | - | 2 |
9-32634530-C-T | c.1048G>A | p.V350M | Missense | 1/1 | - | 1 |
9-32634532-T-A | c.1046A>T | p.K349I | Missense | 1/1 | - | 1 |
9-32634533-T-C | c.1045A>G | p.K349E | Missense | 1/1 | - | 1 |
9-32634542-C-A | c.1036G>T | p.D346Y | Missense | 1/1 | - | 1 |
9-32634545-C-T | c.1033G>A | p.G345R | Missense | 1/1 | - | 1 |
9-32634548-T-G | c.1030A>C | p.T344P | Missense | 1/1 | - | 1 |
9-32634549-T-A | c.1029A>T | p.S343= | Synonymous | 1/1 | - | 1 |
9-32634550-G-C | c.1028C>G | p.S343* | Nonsense | 1/1 | - | 1 |
9-32634550-G-T | c.1028C>A | p.S343* | Nonsense | 1/1 | - | 1 |
9-32634551-A-T | c.1027T>A | p.S343T | Missense | 1/1 | - | 1 |
9-32634554-G-A | c.1024C>T | p.Q342* | Nonsense | 1/1 | - | 1 |
9-32634555-G-A | c.1023C>T | p.S341= | Synonymous | 1/1 | - | 4 |
9-32634556-G-A | c.1022C>T | p.S341F | Missense | 1/1 | - | 4 |
9-32634557-A-G | c.1021T>C | p.S341P | Missense | 1/1 | - | 1 |
9-32634562-T-G | c.1016A>C | p.K339T | Missense | 1/1 | - | 4 |
9-32634566-A-T | c.1012T>A | p.S338T | Missense | 1/1 | - | 1 |
9-32634567-C-A | c.1011G>T | p.E337D | Missense | 1/1 | - | 2 |
9-32634567-C-G | c.1011G>C | p.E337D | Missense | 1/1 | - | 1 |
9-32634568-T-C | c.1010A>G | p.E337G | Missense | 1/1 | - | 1 |
9-32634574-G-A | c.1004C>T | p.P335L | Missense | 1/1 | - | 6 |
9-32634575-G-A | c.1003C>T | p.P335S | Missense | 1/1 | - | 3 |
9-32634578-C-T | c.1000G>A | p.V334I | Missense | 1/1 | - | 1 |
9-32634582-C-T | c.996G>A | p.M332I | Missense | 1/1 | - | 1 |
9-32634584-T-A | c.994A>T | p.M332L | Missense | 1/1 | - | 1 |
9-32634585-C-T | c.993G>A | p.T331= | Synonymous | 1/1 | - | 2 |
9-32634586-G-A | c.992C>T | p.T331M | Missense | 1/1 | - | 1 |
9-32634586-G-T | c.992C>A | p.T331K | Missense | 1/1 | - | 1 |
9-32634587-T-C | c.991A>G | p.T331A | Missense | 1/1 | - | 1 |
9-32634595-T-A | c.983A>T | p.D328V | Missense | 1/1 | - | 3 |
9-32634596-C-T | c.982G>A | p.D328N | Missense | 1/1 | - | 1 |
9-32634599-C-A | c.979G>T | p.D327Y | Missense | 1/1 | - | 1 |
9-32634599-C-T | c.979G>A | p.D327N | Missense | 1/1 | - | 4 |
9-32634602-C-T | c.976G>A | p.A326T | Missense | 1/1 | - | 1 |
9-32634610-T-C | c.968A>G | p.Q323R | Missense | 1/1 | - | 1 |
9-32634611-G-T | c.967C>A | p.Q323K | Missense | 1/1 | - | 1 |
9-32634615-T-A | c.963A>T | p.P321= | Synonymous | 1/1 | - | 1 |
9-32634615-T-C | c.963A>G | p.P321= | Synonymous | 1/1 | - | 1 |
9-32634615-T-G | c.963A>C | p.P321= | Synonymous | 1/1 | - | 1 |
9-32634618-G-A | c.960C>T | p.P320= | Synonymous | 1/1 | - | 2 |
9-32634618-G-T | c.960C>A | p.P320= | Synonymous | 1/1 | - | 2 |
9-32634615-TG-T | c.962del | p.P321Qfs*12 | Frameshift | 1/1 | - | 1 |
9-32634621-T-A | c.957A>T | p.P319= | Synonymous | 1/1 | - | 2 |
9-32634621-T-C | c.957A>G | p.P319= | Synonymous | 1/1 | - | 2 |
9-32634621-T-G | c.957A>C | p.P319= | Synonymous | 1/1 | - | 2 |
9-32634622-G-A | c.956C>T | p.P319L | Missense | 1/1 | - | 1 |
9-32634625-G-A | c.953C>T | p.P318L | Missense | 1/1 | - | 1 |
9-32634626-G-A | c.952C>T | p.P318S | Missense | 1/1 | - | 2 |
9-32634629-G-T | c.949C>A | p.P317T | Missense | 1/1 | - | 1 |
9-32634632-C-A | c.946G>T | p.A316S | Missense | 1/1 | - | 4 |
9-32634634-T-C | c.944A>G | p.Y315C | Missense | 1/1 | - | 2 |
9-32634638-C-T | c.940G>A | p.D314N | Missense | 1/1 | - | 1 |
9-32634645-C-T | c.933G>A | p.W311* | Nonsense | 1/1 | - | 5 |
9-32634646-C-T | c.932G>A | p.W311* | Nonsense | 1/1 | - | 3 |
9-32634652-G-A | c.926C>T | p.S309F | Missense | 1/1 | - | 2 |
9-32634661-C-T | c.917G>A | p.S306N | Missense | 1/1 | - | 1 |
9-32634677-C-A | c.901G>T | p.V301L | Missense | 1/1 | - | 1 |
9-32634677-C-G | c.901G>C | p.V301L | Missense | 1/1 | - | 1 |
9-32634687-C-T | c.891G>A | p.V297= | Synonymous | 1/1 | - | 4 |
9-32634689-C-A | c.889G>T | p.V297L | Missense | 1/1 | - | 4 |
9-32634689-C-G | c.889G>C | p.V297L | Missense | 1/1 | - | 3 |
9-32634690-C-A | c.888G>T | p.E296D | Missense | 1/1 | - | 1 |
9-32634690-C-G | c.888G>C | p.E296D | Missense | 1/1 | - | 1 |
9-32634690-C-T | c.888G>A | p.E296= | Synonymous | 1/1 | - | 1 |
9-32634692-C-T | c.886G>A | p.E296K | Missense | 1/1 | - | 1 |
9-32634693-C-T | c.885G>A | p.Q295= | Synonymous | 1/1 | - | 1 |
9-32634695-G-A | c.883C>T | p.Q295* | Nonsense | 1/1 | - | 3 |
9-32634696-G-C | c.882C>G | p.I294M | Missense | 1/1 | - | 1 |
9-32634699-C-A | c.879G>T | p.Q293H | Missense | 1/1 | - | 1 |
9-32634699-C-G | c.879G>C | p.Q293H | Missense | 1/1 | - | 1 |
9-32634702-C-A | c.876G>T | p.E292D | Missense | 1/1 | - | 1 |
9-32634704-C-T | c.874G>A | p.E292K | Missense | 1/1 | - | 4 |
9-32634708-C-A | c.870G>T | p.Q290H | Missense | 1/1 | - | 1 |
9-32634713-AT-A | c.865del | p.I289Yfs*13 | Frameshift | 1/1 | - | 1 |
9-32634715-A-G | c.863T>C | p.L288P | Missense | 1/1 | - | 1 |
9-32634719-C-T | c.859G>A | p.E287K | Missense | 1/1 | - | 1 |
9-32634720-A-C | c.858T>G | p.R286= | Synonymous | 1/1 | - | 1 |
9-32634720-A-G | c.858T>C | p.R286= | Synonymous | 1/1 | - | 1 |
9-32634720-A-T | c.858T>A | p.R286= | Synonymous | 1/1 | - | 1 |
9-32634721-C-T | c.857G>A | p.R286H | Missense | 1/1 | - | 2 |
9-32634722-G-A | c.856C>T | p.R286C | Missense | 1/1 | - | 1 |
9-32634725-G-C | c.853C>G | p.H285D | Missense | 1/1 | - | 1 |
9-32634729-C-A | c.849G>T | p.K283N | Missense | 1/1 | - | 1 |
9-32634730-T-C | c.848A>G | p.K283R | Missense | 1/1 | - | 1 |
9-32634732-C-T | c.846G>A | p.R282= | Synonymous | 1/1 | - | 3 |
9-32634733-CT-TG | c.844_845delinsCA | p.R282Q | Missense | 1/1 | - | 1 |
9-32634735-C-A | c.843G>T | p.K281N | Missense | 1/1 | - | 1 |
9-32634735-C-G | c.843G>C | p.K281N | Missense | 1/1 | - | 1 |
9-32634735-CT-C | c.842del | p.K281Rfs*8 | Frameshift | 1/1 | - | 1 |
9-32634740-T-A | c.838A>T | p.R280* | Nonsense | 1/1 | - | 1 |
9-32634742-C-T | c.836G>A | p.R279Q | Missense | 1/1 | - | 5 |
9-32634743-G-A | c.835C>T | p.R279W | Missense | 1/1 | - | 2 |
9-32634748-C-T | c.830G>A | p.S277N | Missense | 1/1 | - | 1 |
9-32634751-C-A | c.827G>T | p.R276L | Missense | 1/1 | - | 1 |
9-32634751-C-T | c.827G>A | p.R276Q | Missense | 1/1 | - | 3 |
9-32634752-G-A | c.826C>T | p.R276W | Missense | 1/1 | - | 1 |
9-32634752-G-T | c.826C>A | p.R276= | Synonymous | 1/1 | - | 1 |
9-32634760-G-A | c.818C>T | p.S273F | Missense | 1/1 | - | 1 |
9-32634760-G-T | c.818C>A | p.S273Y | Missense | 1/1 | - | 4 |
9-32634763-G-A | c.815C>T | p.P272L | Missense | 1/1 | - | 2 |
9-32634764-G-A | c.814C>T | p.P272S | Missense | 1/1 | - | 1 |
9-32634765-G-A | c.813C>T | p.V271= | Synonymous | 1/1 | - | 2 |
9-32634771-C-T | c.807G>A | p.K269= | Synonymous | 1/1 | - | 1 |
9-32634773-T-C | c.805A>G | p.K269E | Missense | 1/1 | - | 1 |
9-32634774-C-T | c.804G>A | p.G268= | Synonymous | 1/1 | - | 3 |
9-32634775-C-T | c.803G>A | p.G268E | Missense | 1/1 | - | 1 |
9-32634778-G-A | c.800C>T | p.P267L | Missense | 1/1 | - | 1 |
9-32634781-C-T | c.797G>A | p.G266E | Missense | 1/1 | - | 2 |
9-32634783-A-C | c.795T>G | p.F265L | Missense | 1/1 | - | 1 |
9-32634783-A-T | c.795T>A | p.F265L | Missense | 1/1 | - | 1 |
9-32634785-A-G | c.793T>C | p.F265L | Missense | 1/1 | - | 1 |
9-32634787-A-C | c.791T>G | p.L264R | Missense | 1/1 | - | 1 |
9-32634788-G-T | c.790C>A | p.L264I | Missense | 1/1 | - | 1 |
9-32634789-A-C | c.789T>G | p.H263Q | Missense | 1/1 | - | 1 |
9-32634789-A-T | c.789T>A | p.H263Q | Missense | 1/1 | - | 1 |
9-32634793-AG-GA | c.784_785delinsTC | p.L262S | Missense | 1/1 | - | 1 |
9-32634796-A-G | c.782T>C | p.F261S | Missense | 1/1 | - | 1 |
9-32634796-A-T | c.782T>A | p.F261Y | Missense | 1/1 | - | 1 |
9-32634798-GCG-CCA | c.778_780delinsTGG | p.R260W | Missense | 1/1 | - | 1 |
9-32634799-C-A | c.779G>T | p.R260L | Missense | 1/1 | - | 3 |
9-32634799-C-T | c.779G>A | p.R260H | Missense | 1/1 | - | 2 |
9-32634800-G-A | c.778C>T | p.R260C | Missense | 1/1 | - | 5 |
9-32634800-G-C | c.778C>G | p.R260G | Missense | 1/1 | - | 2 |
9-32634800-G-T | c.778C>A | p.R260S | Missense | 1/1 | - | 1 |
9-32634801-T-A | c.777A>T | p.L259F | Missense | 1/1 | - | 1 |
9-32634801-T-G | c.777A>C | p.L259F | Missense | 1/1 | - | 1 |
9-32634807-T-A | c.771A>T | p.K257N | Missense | 1/1 | - | 1 |
9-32634807-T-C | c.771A>G | p.K257= | Synonymous | 1/1 | - | 2 |
9-32634807-T-G | c.771A>C | p.K257N | Missense | 1/1 | - | 1 |
9-32634809-T-C | c.769A>G | p.K257E | Missense | 1/1 | - | 1 |
9-32634811-C-G | c.767G>C | p.G256A | Missense | 1/1 | - | 7 |
9-32634814-G-T | c.764C>A | p.P255H | Missense | 1/1 | - | 1 |
9-32634815-G-GA | c.762_763insT | p.P255Sfs*33 | Frameshift | 1/1 | - | 1 |
9-32634815-GGTCGA-G | c.759_763del | p.R254Wfs*32 | Frameshift | 1/1 | - | 1 |
9-32634815-G-T | c.763C>A | p.P255T | Missense | 1/1 | - | 1 |
9-32634815-G-GT | c.762dup | p.P255Tfs*33 | Frameshift | 1/1 | - | 2 |
9-32634816-T-TA | c.761_762insT | p.P255Tfs*33 | Frameshift | 1/1 | - | 1 |
9-32634817-C-A | c.761G>T | p.R254L | Missense | 1/1 | - | 1 |
9-32634817-C-CA | c.760_761insT | p.R254Lfs*34 | Frameshift | 1/1 | - | 1 |
9-32634817-C-T | c.761G>A | p.R254Q | Missense | 1/1 | - | 1 |
9-32634818-G-A | c.760C>T | p.R254* | Nonsense | 1/1 | - | 17 |
9-32634818-G-C | c.760C>G | p.R254G | Missense | 1/1 | - | 1 |
9-32634823-T-TTCGAC | c.754_755insGTCGA | p.E252Gfs*39 | Frameshift | 1/1 | - | 1 |
9-32634824-C-T | c.754G>A | p.E252K | Missense | 1/1 | - | 1 |
9-32634826-G-A | c.752C>T | p.P251L | Missense | 1/1 | - | 1 |
9-32634826-G-T | c.752C>A | p.P251Q | Missense | 1/1 | - | 2 |
9-32634827-G-A | c.751C>T | p.P251S | Missense | 1/1 | - | 4 |
9-32634828-A-T | c.750T>A | p.F250L | Missense | 1/1 | - | 1 |
9-32634827-GA-G | c.750del | p.P251Qfs*38 | Frameshift | 1/1 | - | 1 |
9-32634836-C-A | c.742G>T | p.E248* | Nonsense | 1/1 | - | 1 |
9-32634836-C-T | c.742G>A | p.E248K | Missense | 1/1 | - | 19 |
9-32634849-C-A | c.729G>T | p.L243F | Missense | 1/1 | - | 1 |
9-32634849-C-G | c.729G>C | p.L243F | Missense | 1/1 | - | 1 |
9-32634849-C-T | c.729G>A | p.L243= | Synonymous | 1/1 | - | 1 |
9-32634851-A-G | c.727T>C | p.L243= | Synonymous | 1/1 | - | 1 |
9-32634855-C-A | c.723G>T | p.K241N | Missense | 1/1 | - | 1 |
9-32634855-C-G | c.723G>C | p.K241N | Missense | 1/1 | - | 1 |
9-32634862-G-A | c.716C>T | p.A239V | Missense | 1/1 | - | 1 |
9-32634864-A-C | c.714T>G | p.D238E | Missense | 1/1 | - | 1 |
9-32634864-A-T | c.714T>A | p.D238E | Missense | 1/1 | - | 1 |
9-32634866-C-A | c.712G>T | p.D238Y | Missense | 1/1 | - | 1 |
9-32634870-C-G | c.708G>C | p.Q236H | Missense | 1/1 | - | 1 |
9-32634873-C-A | c.705G>T | p.M235I | Missense | 1/1 | - | 1 |
9-32634873-C-G | c.705G>C | p.M235I | Missense | 1/1 | - | 1 |
9-32634873-C-T | c.705G>A | p.M235I | Missense | 1/1 | - | 2 |
9-32634876-A-C | c.702T>G | p.I234M | Missense | 1/1 | - | 1 |
9-32634880-C-A | c.698G>T | p.G233V | Missense | 1/1 | - | 1 |
9-32634881-C-A | c.697G>T | p.G233W | Missense | 1/1 | - | 1 |
9-32634881-C-G | c.697G>C | p.G233R | Missense | 1/1 | - | 1 |
9-32634881-C-T | c.697G>A | p.G233R | Missense | 1/1 | - | 1 |
9-32634883-G-T | c.695C>A | p.A232D | Missense | 1/1 | - | 1 |
9-32634884-C-T | c.694G>A | p.A232T | Missense | 1/1 | - | 1 |
9-32634885-C-T | c.693G>A | p.L231= | Synonymous | 1/1 | - | 1 |
9-32634886-A-G | c.692T>C | p.L231S | Missense | 1/1 | - | 9 |
9-32634889-G-A | c.689C>T | p.P230L | Missense | 1/1 | - | 11 |
9-32634890-G-A | c.688C>T | p.P230S | Missense | 1/1 | - | 1 |
9-32634893-G-A | c.685C>T | p.L229F | Missense | 1/1 | - | 1 |
9-32634895-G-A | c.683C>T | p.T228I | Missense | 1/1 | - | 1 |
9-32634900-C-A | c.678G>T | p.K226N | Missense | 1/1 | - | 1 |
9-32634900-C-G | c.678G>C | p.K226N | Missense | 1/1 | - | 1 |
9-32634901-T-C | c.677A>G | p.K226R | Missense | 1/1 | - | 1 |
9-32634905-C-T | c.673G>A | p.G225R | Missense | 1/1 | - | 1 |
9-32634903-TCCATCCTCAGATTCTGCCTGTGTTGCTTCCTGAGGTC-T | c.638_674del | p.G213Efs*3 | Frameshift | 1/1 | - | 1 |
9-32634914-A-G | c.664T>C | p.S222P | Missense | 1/1 | - | 1 |
9-32634917-C-T | c.661G>A | p.E221K | Missense | 1/1 | - | 1 |
9-32634919-GC-AT | c.658_659delinsAT | p.A220I | Missense | 1/1 | - | 1 |
9-32634920-C-T | c.658G>A | p.A220T | Missense | 1/1 | - | 2 |
9-32634921-C-A | c.657G>T | p.Q219H | Missense | 1/1 | - | 1 |
9-32634924-T-A | c.654A>T | p.T218= | Synonymous | 1/1 | - | 1 |
9-32634924-T-C | c.654A>G | p.T218= | Synonymous | 1/1 | - | 1 |
9-32634924-T-G | c.654A>C | p.T218= | Synonymous | 1/1 | - | 1 |
9-32634925-G-A | c.653C>T | p.T218I | Missense | 1/1 | - | 1 |
9-32634926-T-G | c.652A>C | p.T218P | Missense | 1/1 | - | 3 |
9-32634929-C-T | c.649G>A | p.A217T | Missense | 1/1 | - | 1 |
9-32634932-C-T | c.646G>A | p.E216K | Missense | 1/1 | - | 3 |
9-32634933-C-G | c.645G>C | p.Q215H | Missense | 1/1 | - | 1 |
9-32634935-G-A | c.643C>T | p.Q215* | Nonsense | 1/1 | - | 2 |
9-32634936-AG-TT | c.641_642delinsAA | p.P214Q | Missense | 1/1 | - | 1 |
9-32634937-G-T | c.641C>A | p.P214H | Missense | 1/1 | - | 1 |
9-32634939-TCC-ACA | c.637_639delinsTGT | p.G213C | Missense | 1/1 | - | 1 |
9-32634940-C-A | c.638G>T | p.G213V | Missense | 1/1 | - | 1 |
9-32634940-C-G | c.638G>C | p.G213A | Missense | 1/1 | - | 2 |
9-32634940-C-T | c.638G>A | p.G213E | Missense | 1/1 | - | 2 |
9-32634941-C-G | c.637G>C | p.G213R | Missense | 1/1 | - | 1 |
9-32634941-C-T | c.637G>A | p.G213R | Missense | 1/1 | - | 2 |
9-32634942-C-A | c.636G>T | p.M212I | Missense | 1/1 | - | 1 |
9-32634942-C-G | c.636G>C | p.M212I | Missense | 1/1 | - | 1 |
9-32634942-C-T | c.636G>A | p.M212I | Missense | 1/1 | - | 1 |
9-32634945-C-G | c.633G>C | p.E211D | Missense | 1/1 | - | 1 |
9-32634945-C-T | c.633G>A | p.E211= | Synonymous | 1/1 | - | 4 |
9-32634947-C-T | c.631G>A | p.E211K | Missense | 1/1 | - | 1 |
9-32634948-A-C | c.630T>G | p.S210= | Synonymous | 1/1 | - | 1 |
9-32634948-A-G | c.630T>C | p.S210= | Synonymous | 1/1 | - | 2 |
9-32634948-A-T | c.630T>A | p.S210= | Synonymous | 1/1 | - | 1 |
9-32634950-A-C | c.628T>G | p.S210A | Missense | 1/1 | - | 1 |
9-32634953-C-T | c.625G>A | p.E209K | Missense | 1/1 | - | 1 |
9-32634955-G-A | c.623C>T | p.S208L | Missense | 1/1 | - | 1 |
9-32634956-A-G | c.622T>C | p.S208P | Missense | 1/1 | - | 1 |
9-32634959-C-A | c.619G>T | p.D207Y | Missense | 1/1 | - | 1 |
9-32634963-G-T | c.615C>A | p.Y205* | Nonsense | 1/1 | - | 1 |
9-32634966-A-G | c.612T>C | p.S204= | Synonymous | 1/1 | - | 4 |
9-32634970-C-T | c.608G>A | p.S203N | Missense | 1/1 | - | 1 |
9-32634978-C-T | c.600G>A | p.V200= | Synonymous | 1/1 | - | 5 |
9-32634979-A-C | c.599T>G | p.V200G | Missense | 1/1 | - | 1 |
9-32634984-C-A | c.594G>T | p.E198D | Missense | 1/1 | - | 4 |
9-32634984-C-G | c.594G>C | p.E198D | Missense | 1/1 | - | 3 |
9-32634990-G-A | c.588C>T | p.A196= | Synonymous | 1/1 | - | 1 |
9-32634992-C-A | c.586G>T | p.A196S | Missense | 1/1 | - | 2 |
9-32634993-C-T | c.585G>A | p.L195= | Synonymous | 1/1 | - | 2 |
9-32634995-A-G | c.583T>C | p.L195= | Synonymous | 1/1 | - | 1 |
9-32635000-G-A | c.578C>T | p.S193F | Missense | 1/1 | - | 5 |
9-32635001-A-T | c.577T>A | p.S193T | Missense | 1/1 | - | 1 |
9-32635002-A-T | c.576T>A | p.P192= | Synonymous | 1/1 | - | 1 |
9-32635006-G-C | c.572C>G | p.A191G | Missense | 1/1 | - | 2 |
9-32635013-T-C | c.565A>G | p.I189V | Missense | 1/1 | - | 2 |
9-32635015-G-T | c.563C>A | p.S188Y | Missense | 1/1 | - | 2 |
9-32635017-G-A | c.561C>T | p.P187= | Synonymous | 1/1 | - | 4 |
9-32635019-G-T | c.559C>A | p.P187T | Missense | 1/1 | - | 1 |
9-32635029-G-C | c.549C>G | p.D183E | Missense | 1/1 | - | 1 |
9-32635029-G-T | c.549C>A | p.D183E | Missense | 1/1 | - | 1 |
9-32635031-C-A | c.547G>T | p.D183Y | Missense | 1/1 | - | 5 |
9-32635032-T-A | c.546A>T | p.E182D | Missense | 1/1 | - | 1 |
9-32635032-T-G | c.546A>C | p.E182D | Missense | 1/1 | - | 1 |
9-32635036-C-G | c.542G>C | p.G181A | Missense | 1/1 | - | 1 |
9-32635036-C-T | c.542G>A | p.G181E | Missense | 1/1 | - | 1 |
9-32635039-C-T | c.539G>A | p.S180N | Missense | 1/1 | - | 2 |
9-32635041-T-C | c.537A>G | p.E179= | Synonymous | 1/1 | - | 2 |
9-32635043-C-G | c.535G>C | p.E179Q | Missense | 1/1 | - | 1 |
9-32635045-G-A | c.533C>T | p.S178F | Missense | 1/1 | - | 1 |
9-32635046-A-T | c.532T>A | p.S178T | Missense | 1/1 | - | 1 |
9-32635049-C-A | c.529G>T | p.V177L | Missense | 1/1 | - | 1 |
9-32635050-A-C | c.528T>G | p.C176W | Missense | 1/1 | - | 1 |
9-32635051-CA-GT | c.526_527delinsAC | p.C176T | Missense | 1/1 | - | 1 |
9-32635054-G-A | c.524C>T | p.T175I | Missense | 1/1 | - | 1 |
9-32635055-T-G | c.523A>C | p.T175P | Missense | 1/1 | - | 1 |
9-32635060-G-A | c.518C>T | p.A173V | Missense | 1/1 | - | 1 |
9-32635061-C-T | c.517G>A | p.A173T | Missense | 1/1 | - | 1 |
9-32635062-A-C | c.516T>G | p.D172E | Missense | 1/1 | - | 1 |
9-32635062-A-T | c.516T>A | p.D172E | Missense | 1/1 | - | 1 |
9-32635063-T-C | c.515A>G | p.D172G | Missense | 1/1 | - | 1 |
9-32635064-C-A | c.514G>T | p.D172Y | Missense | 1/1 | - | 2 |
9-32635064-C-T | c.514G>A | p.D172N | Missense | 1/1 | - | 3 |
9-32635065-T-A | c.513A>T | p.Q171H | Missense | 1/1 | - | 1 |
9-32635065-T-G | c.513A>C | p.Q171H | Missense | 1/1 | - | 1 |
9-32635067-G-A | c.511C>T | p.Q171* | Nonsense | 1/1 | - | 1 |
9-32635067-G-C | c.511C>G | p.Q171E | Missense | 1/1 | - | 4 |
9-32635070-C-T | c.508G>A | p.D170N | Missense | 1/1 | - | 1 |
9-32635075-T-C | c.503A>G | p.D168G | Missense | 1/1 | - | 1 |
9-32635076-C-T | c.502G>A | p.D168N | Missense | 1/1 | - | 2 |
9-32635080-C-T | c.498G>A | p.K166= | Synonymous | 1/1 | - | 1 |
9-32635082-T-G | c.496A>C | p.K166Q | Missense | 1/1 | - | 1 |
9-32635083-C-T | c.495G>A | p.M165I | Missense | 1/1 | - | 2 |
9-32635088-G-C | c.490C>G | p.P164A | Missense | 1/1 | - | 1 |
9-32635089-TC-GT | c.488_489delinsAC | p.G163D | Missense | 1/1 | - | 1 |
9-32635090-C-T | c.488G>A | p.G163E | Missense | 1/1 | - | 3 |
9-32635091-C-G | c.487G>C | p.G163R | Missense | 1/1 | - | 2 |
9-32635091-C-T | c.487G>A | p.G163R | Missense | 1/1 | - | 4 |
9-32635092-C-A | c.486G>T | p.P162= | Synonymous | 1/1 | - | 1 |
9-32635092-C-G | c.486G>C | p.P162= | Synonymous | 1/1 | - | 1 |
9-32635092-C-T | c.486G>A | p.P162= | Synonymous | 1/1 | - | 1 |
9-32635092-CG-C | c.485del | p.P162Rfs*4 | Frameshift | 1/1 | - | 1 |
9-32635100-G-A | c.478C>T | p.P160S | Missense | 1/1 | - | 2 |
9-32635101-A-C | c.477T>G | p.P159= | Synonymous | 1/1 | - | 1 |
9-32635101-A-G | c.477T>C | p.P159= | Synonymous | 1/1 | - | 1 |
9-32635101-A-T | c.477T>A | p.P159= | Synonymous | 1/1 | - | 1 |
9-32635102-G-C | c.476C>G | p.P159R | Missense | 1/1 | - | 1 |
9-32635106-G-A | c.472C>T | p.P158S | Missense | 1/1 | - | 1 |
9-32635108-G-T | c.470C>A | p.P157H | Missense | 1/1 | - | 1 |
9-32635109-G-A | c.469C>T | p.P157S | Missense | 1/1 | - | 5 |
9-32635113-C-T | c.465G>A | p.M155I | Missense | 1/1 | - | 1 |
9-32635118-A-C | c.460T>G | p.L154V | Missense | 1/1 | - | 1 |
9-32635119-C-T | c.459G>A | p.K153= | Synonymous | 1/1 | - | 1 |
9-32635120-T-A | c.458A>T | p.K153M | Missense | 1/1 | - | 1 |
9-32635124-A-T | c.454T>A | p.C152S | Missense | 1/1 | - | 1 |
9-32635127-C-A | c.451G>T | p.D151Y | Missense | 1/1 | - | 1 |
9-32635132-T-C | c.446A>G | p.D149G | Missense | 1/1 | - | 1 |
9-32635133-C-A | c.445G>T | p.D149Y | Missense | 1/1 | - | 1 |
9-32635134-T-C | c.444A>G | p.E148= | Synonymous | 1/1 | - | 1 |
9-32635136-C-G | c.442G>C | p.E148Q | Missense | 1/1 | - | 1 |
9-32635138-C-A | c.440G>T | p.C147F | Missense | 1/1 | - | 1 |
9-32635139-A-G | c.439T>C | p.C147R | Missense | 1/1 | - | 1 |
9-32635140-A-C | c.438T>G | p.D146E | Missense | 1/1 | - | 1 |
9-32635140-A-T | c.438T>A | p.D146E | Missense | 1/1 | - | 1 |
9-32635142-C-T | c.436G>A | p.D146N | Missense | 1/1 | - | 1 |
9-32635144-G-C | c.434C>G | p.A145G | Missense | 1/1 | - | 1 |
9-32635144-G-T | c.434C>A | p.A145D | Missense | 1/1 | - | 1 |
9-32635150-T-C | c.428A>G | p.Y143C | Missense | 1/1 | - | 2 |
9-32635156-T-C | c.422A>G | p.D141G | Missense | 1/1 | - | 2 |
9-32635157-C-T | c.421G>A | p.D141N | Missense | 1/1 | - | 5 |
9-32635160-C-T | c.418G>A | p.E140K | Missense | 1/1 | - | 3 |
9-32635163-C-T | c.415G>A | p.D139N | Missense | 1/1 | - | 1 |
9-32635166-A-G | c.412T>C | p.Y138H | Missense | 1/1 | - | 1 |
9-32635168-T-A | c.410A>T | p.D137V | Missense | 1/1 | - | 1 |
9-32635169-C-T | c.409G>A | p.D137N | Missense | 1/1 | - | 1 |
9-32635170-C-A | c.408G>T | p.S136= | Synonymous | 1/1 | - | 1 |
9-32635170-C-G | c.408G>C | p.S136= | Synonymous | 1/1 | - | 1 |
9-32635170-C-T | c.408G>A | p.S136= | Synonymous | 1/1 | - | 2 |
9-32635171-G-A | c.407C>T | p.S136L | Missense | 1/1 | - | 2 |
9-32635171-G-C | c.407C>G | p.S136W | Missense | 1/1 | - | 1 |
9-32635171-G-T | c.407C>A | p.S136* | Nonsense | 1/1 | - | 1 |
9-32635177-T-C | c.401A>G | p.Y134C | Missense | 1/1 | - | 1 |
9-32635178-A-G | c.400T>C | p.Y134H | Missense | 1/1 | - | 6 |
9-32635182-G-T | c.396C>A | p.P132= | Synonymous | 1/1 | - | 1 |
9-32635183-G-A | c.395C>T | p.P132L | Missense | 1/1 | - | 5 |
9-32635183-G-T | c.395C>A | p.P132H | Missense | 1/1 | - | 1 |
9-32635187-G-A | c.391C>T | p.Q131* | Nonsense | 1/1 | - | 1 |
9-32635187-G-T | c.391C>A | p.Q131K | Missense | 1/1 | - | 1 |
9-32635188-C-A | c.390G>T | p.L130F | Missense | 1/1 | - | 2 |
9-32635188-C-G | c.390G>C | p.L130F | Missense | 1/1 | - | 2 |
9-32635189-AA-GG | c.388_389delinsCC | p.L130P | Missense | 1/1 | - | 1 |
9-32635192-C-T | c.386G>A | p.S129N | Missense | 1/1 | - | 1 |
9-32635194-C-A | c.384G>T | p.G128= | Synonymous | 1/1 | - | 1 |
9-32635194-C-G | c.384G>C | p.G128= | Synonymous | 1/1 | - | 1 |
9-32635194-C-T | c.384G>A | p.G128= | Synonymous | 1/1 | - | 1 |
9-32635200-C-G | c.378G>C | p.T126= | Synonymous | 1/1 | - | 1 |
9-32635201-G-A | c.377C>T | p.T126M | Missense | 1/1 | - | 2 |
9-32635202-T-G | c.376A>C | p.T126P | Missense | 1/1 | - | 1 |
9-32635203-C-A | c.375G>T | p.Q125H | Missense | 1/1 | - | 1 |
9-32635206-C-A | c.372G>T | p.Q124H | Missense | 1/1 | - | 1 |
9-32635206-C-G | c.372G>C | p.Q124H | Missense | 1/1 | - | 1 |
9-32635208-G-A | c.370C>T | p.Q124* | Nonsense | 1/1 | - | 3 |
9-32635209-G-A | c.369C>T | p.H123= | Synonymous | 1/1 | - | 1 |
9-32635211-G-C | c.367C>G | p.H123D | Missense | 1/1 | - | 1 |
9-32635213-C-A | c.365G>T | p.R122I | Missense | 1/1 | - | 1 |
9-32635213-C-G | c.365G>C | p.R122T | Missense | 1/1 | - | 1 |
9-32635213-CT-TG | c.364_365delinsCA | p.R122Q | Missense | 1/1 | - | 1 |
9-32635213-CT-C | c.364del | p.R122Dfs*33 | Frameshift | 1/1 | - | 1 |
9-32635216-T-C | c.362A>G | p.Q121R | Missense | 1/1 | - | 1 |
9-32635223-C-A | c.355G>T | p.E119* | Nonsense | 1/1 | - | 1 |
9-32635223-C-G | c.355G>C | p.E119Q | Missense | 1/1 | - | 1 |
9-32635226-C-G | c.352G>C | p.D118H | Missense | 1/1 | - | 1 |
9-32635227-T-C | c.351A>G | p.E117= | Synonymous | 1/1 | - | 2 |
9-32635228-T-C | c.350A>G | p.E117G | Missense | 1/1 | - | 1 |
9-32635229-C-T | c.349G>A | p.E117K | Missense | 1/1 | - | 1 |
9-32635236-C-A | c.342G>T | p.E114D | Missense | 1/1 | - | 1 |
9-32635238-C-T | c.340G>A | p.E114K | Missense | 1/1 | - | 3 |
9-32635240-T-G | c.338A>C | p.N113T | Missense | 1/1 | - | 1 |
9-32635245-G-A | c.333C>T | p.D111= | Synonymous | 1/1 | - | 2 |
9-32635249-G-A | c.329C>T | p.S110L | Missense | 1/1 | - | 1 |
9-32635249-GA-CC | c.328_329delinsGG | p.S110G | Missense | 1/1 | - | 1 |
9-32635251-A-T | c.327T>A | p.Y109* | Nonsense | 1/1 | - | 1 |
9-32635254-G-A | c.324C>T | p.D108= | Synonymous | 1/1 | - | 1 |
9-32635256-C-G | c.322G>C | p.D108H | Missense | 1/1 | - | 1 |
9-32635261-G-A | c.317C>T | p.A106V | Missense | 1/1 | - | 2 |
9-32635265-C-T | c.313G>A | p.D105N | Missense | 1/1 | - | 1 |
9-32635271-T-C | c.307A>G | p.T103A | Missense | 1/1 | - | 1 |
9-32635273-CT-TA | c.304_305delinsTA | p.S102Y | Missense | 1/1 | - | 1 |
9-32635275-C-A | c.303G>T | p.R101S | Missense | 1/1 | - | 1 |
9-32635275-C-G | c.303G>C | p.R101S | Missense | 1/1 | - | 1 |
9-32635275-C-T | c.303G>A | p.R101= | Synonymous | 1/1 | - | 2 |
9-32635278-A-C | c.300T>G | p.I100M | Missense | 1/1 | - | 2 |
9-32635282-C-T | c.296G>A | p.W99* | Nonsense | 1/1 | - | 3 |
9-32635283-A-C | c.295T>G | p.W99G | Missense | 1/1 | - | 3 |
9-32635283-A-G | c.295T>C | p.W99R | Missense | 1/1 | - | 1 |
9-32635283-A-T | c.295T>A | p.W99R | Missense | 1/1 | - | 1 |
9-32635287-T-A | c.291A>T | p.E97D | Missense | 1/1 | - | 1 |
9-32635287-T-G | c.291A>C | p.E97D | Missense | 1/1 | - | 1 |
9-32635292-C-A | c.286G>T | p.D96Y | Missense | 1/1 | - | 1 |
9-32635292-C-T | c.286G>A | p.D96N | Missense | 1/1 | - | 4 |
9-32635305-A-C | c.273T>G | p.G91= | Synonymous | 1/1 | - | 1 |
9-32635305-A-G | c.273T>C | p.G91= | Synonymous | 1/1 | - | 1 |
9-32635305-A-T | c.273T>A | p.G91= | Synonymous | 1/1 | - | 1 |
9-32635307-C-T | c.271G>A | p.G91S | Missense | 1/1 | - | 1 |
9-32635308-G-A | c.270C>T | p.G90= | Synonymous | 1/1 | - | 3 |
9-32635308-G-C | c.270C>G | p.G90= | Synonymous | 1/1 | - | 2 |
9-32635308-G-T | c.270C>A | p.G90= | Synonymous | 1/1 | - | 2 |
9-32635309-C-T | c.269G>A | p.G90D | Missense | 1/1 | - | 1 |
9-32635310-C-T | c.268G>A | p.G90S | Missense | 1/1 | - | 3 |
9-32635312-G-C | c.266C>G | p.T89S | Missense | 1/1 | - | 1 |
9-32635313-T-C | c.265A>G | p.T89A | Missense | 1/1 | - | 1 |
9-32635315-C-T | c.263G>A | p.G88E | Missense | 1/1 | - | 3 |
9-32635324-T-G | c.254A>C | p.E85A | Missense | 1/1 | - | 1 |
9-32635325-C-T | c.253G>A | p.E85K | Missense | 1/1 | - | 3 |
9-32635331-T-C | c.247A>G | p.N83D | Missense | 1/1 | - | 1 |
9-32635331-T-G | c.247A>C | p.N83H | Missense | 1/1 | - | 2 |
9-32635335-C-A | c.243G>T | p.T81= | Synonymous | 1/1 | - | 3 |
9-32635336-G-T | c.242C>A | p.T81K | Missense | 1/1 | - | 3 |
9-32635337-T-A | c.241A>T | p.T81S | Missense | 1/1 | - | 1 |
9-32635343-C-T | c.235G>A | p.E79K | Missense | 1/1 | - | 5 |
9-32635350-T-A | c.228A>T | p.L76= | Synonymous | 1/1 | - | 1 |
9-32635350-T-C | c.228A>G | p.L76= | Synonymous | 1/1 | - | 1 |
9-32635350-T-G | c.228A>C | p.L76= | Synonymous | 1/1 | - | 1 |
9-32635352-G-A | c.226C>T | p.L76= | Synonymous | 1/1 | - | 1 |
9-32635359-C-A | c.219G>T | p.L73= | Synonymous | 1/1 | - | 6 |
9-32635366-A-G | c.212T>C | p.L71S | Missense | 1/1 | - | 2 |
9-32635365-C-T | c.213G>A | p.L71= | Synonymous | 1/1 | - | 1 |
9-32635367-A-G | c.211T>C | p.L71= | Synonymous | 1/1 | - | 1 |
9-32635369-G-T | c.209C>A | p.A70D | Missense | 1/1 | - | 1 |
9-32635370-C-T | c.208G>A | p.A70T | Missense | 1/1 | - | 2 |
9-32635371-C-A | c.207G>T | p.G69= | Synonymous | 1/1 | - | 1 |
9-32635371-C-G | c.207G>C | p.G69= | Synonymous | 1/1 | - | 1 |
9-32635371-C-T | c.207G>A | p.G69= | Synonymous | 1/1 | - | 2 |
9-32635372-C-A | c.206G>T | p.G69V | Missense | 1/1 | - | 1 |
9-32635372-C-T | c.206G>A | p.G69E | Missense | 1/1 | - | 1 |
9-32635373-C-A | c.205G>T | p.G69W | Missense | 1/1 | - | 1 |
9-32635373-C-G | c.205G>C | p.G69R | Missense | 1/1 | - | 1 |
9-32635373-C-T | c.205G>A | p.G69R | Missense | 1/1 | - | 1 |
9-32635382-C-T | c.196G>A | p.A66T | Missense | 1/1 | - | 2 |
9-32635386-G-A | c.192C>T | p.H64= | Synonymous | 1/1 | - | 1 |
9-32635389-C-T | c.189G>A | p.K63= | Synonymous | 1/1 | - | 3 |
9-32635390-T-A | c.188A>T | p.K63M | Missense | 1/1 | - | 1 |
9-32635391-T-G | c.187A>C | p.K63Q | Missense | 1/1 | - | 1 |
9-32635396-C-T | c.182G>A | p.C61Y | Missense | 1/1 | - | 1 |
9-32635400-C-T | c.178G>A | p.E60K | Missense | 1/1 | - | 1 |
9-32635403-C-A | c.175G>T | p.D59Y | Missense | 1/1 | - | 1 |
9-32635406-C-G | c.172G>C | p.D58H | Missense | 1/1 | - | 2 |
9-32635406-C-T | c.172G>A | p.D58N | Missense | 1/1 | - | 1 |
9-32635409-A-C | c.169T>G | p.L57V | Missense | 1/1 | - | 1 |
9-32635410-G-A | c.168C>T | p.V56= | Synonymous | 1/1 | - | 3 |
9-32635410-G-C | c.168C>G | p.V56= | Synonymous | 1/1 | - | 3 |
9-32635410-G-T | c.168C>A | p.V56= | Synonymous | 1/1 | - | 3 |
9-32635412-C-G | c.166G>C | p.V56L | Missense | 1/1 | - | 1 |
9-32635412-C-T | c.166G>A | p.V56I | Missense | 1/1 | - | 7 |
9-32635413-G-A | c.165C>T | p.S55= | Synonymous | 1/1 | - | 2 |
9-32635413-G-T | c.165C>A | p.S55R | Missense | 1/1 | - | 1 |
9-32635414-C-A | c.164G>T | p.S55I | Missense | 1/1 | - | 1 |
9-32635415-T-C | c.163A>G | p.S55G | Missense | 1/1 | - | 1 |
9-32635418-C-T | c.160G>A | p.E54K | Missense | 1/1 | - | 7 |
9-32635419-C-A | c.159G>T | p.G53= | Synonymous | 1/1 | - | 1 |
9-32635422-C-T | c.156G>A | p.E52= | Synonymous | 1/1 | - | 1 |
9-32635424-C-A | c.154G>T | p.E52* | Nonsense | 1/1 | - | 1 |
9-32635424-C-T | c.154G>A | p.E52K | Missense | 1/1 | - | 2 |
9-32635425-C-T | c.153G>A | p.L51= | Synonymous | 1/1 | - | 1 |
9-32635429-T-A | c.149A>T | p.Q50L | Missense | 1/1 | - | 1 |
9-32635430-G-A | c.148C>T | p.Q50* | Nonsense | 1/1 | - | 2 |
9-32635431-CCC-GCT | c.145_147delinsAGC | p.G49S | Missense | 1/1 | - | 1 |
9-32635434-C-A | c.144G>T | p.A48= | Synonymous | 1/1 | - | 1 |
9-32635434-C-G | c.144G>C | p.A48= | Synonymous | 1/1 | - | 1 |
9-32635434-C-T | c.144G>A | p.A48= | Synonymous | 1/1 | - | 2 |
9-32635435-G-A | c.143C>T | p.A48V | Missense | 1/1 | - | 2 |
9-32635435-GC-TA | c.142_143delinsTA | p.A48* | Nonsense | 1/1 | - | 1 |
9-32635438-C-G | c.140G>C | p.G47A | Missense | 1/1 | - | 2 |
9-32635441-CT-TA | c.136_137delinsTA | p.S46Y | Missense | 1/1 | - | 1 |
9-32635443-G-A | c.135C>T | p.I45= | Synonymous | 1/1 | - | 1 |
9-32635451-C-A | c.127G>T | p.G43C | Missense | 1/1 | - | 1 |
9-32635451-C-T | c.127G>A | p.G43S | Missense | 1/1 | - | 4 |
9-32635452-G-A | c.126C>T | p.F42= | Synonymous | 1/1 | - | 6 |
9-32635452-GA-G | c.125del | p.F42Sfs*35 | Frameshift | 1/1 | - | 1 |
9-32635457-G-T | c.121C>A | p.L41I | Missense | 1/1 | - | 1 |
9-32635459-A-T | c.119T>A | p.I40N | Missense | 1/1 | - | 1 |
9-32635460-T-C | c.118A>G | p.I40V | Missense | 1/1 | - | 1 |
9-32635463-C-T | c.115G>A | p.G39S | Missense | 1/1 | - | 2 |
9-32635464-C-A | c.114G>T | p.A38= | Synonymous | 1/1 | - | 4 |
9-32635464-C-G | c.114G>C | p.A38= | Synonymous | 1/1 | - | 4 |
9-32635464-C-T | c.114G>A | p.A38= | Synonymous | 1/1 | - | 4 |
9-32635465-G-A | c.113C>T | p.A38V | Missense | 1/1 | - | 3 |
9-32635465-G-C | c.113C>G | p.A38G | Missense | 1/1 | - | 1 |
9-32635466-C-T | c.112G>A | p.A38T | Missense | 1/1 | - | 1 |
9-32635467-CTAA-C | c.109_111del | p.L37del | InFrameDeletion | 1/1 | - | 1 |
9-32635469-A-C | c.109T>G | p.L37V | Missense | 1/1 | - | 1 |
9-32635476-T-A | c.102A>T | p.P34= | Synonymous | 1/1 | - | 1 |
9-32635476-T-C | c.102A>G | p.P34= | Synonymous | 1/1 | - | 1 |
9-32635476-T-G | c.102A>C | p.P34= | Synonymous | 1/1 | - | 1 |
9-32635477-G-T | c.101C>A | p.P34Q | Missense | 1/1 | - | 1 |
9-32635478-G-A | c.100C>T | p.P34S | Missense | 1/1 | - | 1 |
9-32635479-G-A | c.99C>T | p.G33= | Synonymous | 1/1 | - | 2 |
9-32635479-G-C | c.99C>G | p.G33= | Synonymous | 1/1 | - | 1 |
9-32635479-G-T | c.99C>A | p.G33= | Synonymous | 1/1 | - | 1 |
9-32635480-C-A | c.98G>T | p.G33V | Missense | 1/1 | - | 1 |
9-32635480-C-G | c.98G>C | p.G33A | Missense | 1/1 | - | 1 |
9-32635480-C-T | c.98G>A | p.G33D | Missense | 1/1 | - | 3 |
9-32635481-C-G | c.97G>C | p.G33R | Missense | 1/1 | - | 1 |
9-32635481-C-T | c.97G>A | p.G33S | Missense | 1/1 | - | 1 |
9-32635483-C-T | c.95G>A | p.G32D | Missense | 1/1 | - | 1 |
9-32635487-C-A | c.91G>T | p.G31* | Nonsense | 1/1 | - | 1 |
9-32635489-G-T | c.89C>A | p.S30Y | Missense | 1/1 | - | 1 |
9-32635491-TG-AT | c.86_87delinsAT | p.S29Y | Missense | 1/1 | - | 1 |
9-32635499-C-T | c.79G>A | p.E27K | Missense | 1/1 | - | 6 |
9-32635500-C-T | c.78G>A | p.E26= | Synonymous | 1/1 | - | 1 |
9-32635502-C-A | c.76G>T | p.E26* | Nonsense | 1/1 | - | 1 |
9-32635502-C-T | c.76G>A | p.E26K | Missense | 1/1 | - | 2 |
9-32635504-C-T | c.74G>A | p.S25N | Missense | 1/1 | - | 1 |
9-32635506-G-A | c.72C>T | p.D24= | Synonymous | 1/1 | - | 1 |
9-32635509-C-A | c.69G>T | p.S23= | Synonymous | 1/1 | - | 5 |
9-32635509-C-G | c.69G>C | p.S23= | Synonymous | 1/1 | - | 6 |
9-32635509-C-T | c.69G>A | p.S23= | Synonymous | 1/1 | - | 6 |
9-32635510-G-A | c.68C>T | p.S23L | Missense | 1/1 | - | 7 |
9-32635516-G-C | c.62C>G | p.S21* | Nonsense | 1/1 | - | 1 |
9-32635516-G-T | c.62C>A | p.S21* | Nonsense | 1/1 | - | 1 |
9-32635519-A-G | c.59T>C | p.M20T | Missense | 1/1 | - | 2 |
9-32635519-AT-GC | c.58_59delinsGC | p.M20A | Missense | 1/1 | - | 1 |
9-32635526-C-A | c.52G>T | p.A18S | Missense | 1/1 | - | 2 |
9-32635526-C-T | c.52G>A | p.A18T | Missense | 1/1 | - | 2 |
9-32635527-GGC-CAT | c.49_51delinsATG | p.A17M | Missense | 1/1 | - | 1 |
9-32635527-GGC-TTA | c.49_51delinsTAA | p.A17* | Nonsense | 1/1 | - | 1 |
9-32635527-GGC-TTG | c.49_51delinsCAA | p.A17Q | Missense | 1/1 | - | 1 |
9-32635528-G-A | c.50C>T | p.A17V | Missense | 1/1 | - | 1 |
9-32635528-GC-AA | c.49_50delinsTT | p.A17F | Missense | 1/1 | - | 1 |
9-32635528-GC-TA | c.49_50delinsTA | p.A17Y | Missense | 1/1 | - | 3 |
9-32635528-GC-TG | c.49_50delinsCA | p.A17H | Missense | 1/1 | - | 1 |
9-32635529-C-A | c.49G>T | p.A17S | Missense | 1/1 | - | 1 |
9-32635529-C-T | c.49G>A | p.A17T | Missense | 1/1 | - | 1 |
9-32635531-G-A | c.47C>T | p.T16I | Missense | 1/1 | - | 2 |
9-32635533-G-A | c.45C>T | p.V15= | Synonymous | 1/1 | - | 1 |
9-32635533-G-C | c.45C>G | p.V15= | Synonymous | 1/1 | - | 1 |
9-32635533-G-T | c.45C>A | p.V15= | Synonymous | 1/1 | - | 1 |
9-32635535-C-G | c.43G>C | p.V15L | Missense | 1/1 | - | 1 |
9-32635535-C-T | c.43G>A | p.V15I | Missense | 1/1 | - | 1 |
9-32635536-G-A | c.42C>T | p.T14= | Synonymous | 1/1 | - | 2 |
9-32635537-G-A | c.41C>T | p.T14I | Missense | 1/1 | - | 1 |
9-32635537-G-T | c.41C>A | p.T14N | Missense | 1/1 | - | 1 |
9-32635539-A-C | c.39T>G | p.A13= | Synonymous | 1/1 | - | 1 |
9-32635539-A-G | c.39T>C | p.A13= | Synonymous | 1/1 | - | 1 |
9-32635539-A-T | c.39T>A | p.A13= | Synonymous | 1/1 | - | 1 |
9-32635540-G-A | c.38C>T | p.A13V | Missense | 1/1 | - | 1 |
9-32635540-GC-AG | c.37_38delinsCT | p.A13L | Missense | 1/1 | - | 1 |
9-32635542-TGC-CAT | c.34_36delinsATG | p.A12M | Missense | 1/1 | - | 3 |
9-32635543-G-A | c.35C>T | p.A12V | Missense | 1/1 | - | 1 |
9-32635543-GC-AG | c.34_35delinsCT | p.A12L | Missense | 1/1 | - | 2 |
9-32635543-GC-TA | c.34_35delinsTA | p.A12* | Nonsense | 1/1 | - | 1 |
9-32635543-GC-TG | c.34_35delinsCA | p.A12Q | Missense | 1/1 | - | 1 |
9-32635543-GC-TT | c.34_35delinsAA | p.A12K | Missense | 1/1 | - | 1 |
9-32635544-C-G | c.34G>C | p.A12P | Missense | 1/1 | - | 1 |
9-32635544-C-T | c.34G>A | p.A12T | Missense | 1/1 | - | 1 |
9-32635545-TGC-ATA | c.31_33delinsTAT | p.A11Y | Missense | 1/1 | - | 1 |
9-32635545-TGC-ATG | c.31_33delinsCAT | p.A11H | Missense | 1/1 | - | 2 |
9-32635546-GC-CT | c.31_32delinsAG | p.A11R | Missense | 1/1 | - | 1 |
9-32635547-C-CTTA | c.30_31insTAA | p.R10_A11ins* | InFrameInsertion | 1/1 | - | 1 |
9-32635547-C-T | c.31G>A | p.A11T | Missense | 1/1 | - | 1 |
9-32635549-C-G | c.29G>C | p.R10T | Missense | 1/1 | - | 1 |
9-32635549-C-T | c.29G>A | p.R10K | Missense | 1/1 | - | 1 |
9-32635551-C-T | c.27G>A | p.L9= | Synonymous | 1/1 | - | 1 |
9-32635553-G-T | c.25C>A | p.L9M | Missense | 1/1 | - | 1 |
9-32635554-C-A | c.24G>T | p.L8= | Synonymous | 1/1 | - | 1 |
9-32635554-C-G | c.24G>C | p.L8= | Synonymous | 1/1 | - | 1 |
9-32635554-C-T | c.24G>A | p.L8= | Synonymous | 1/1 | - | 1 |
9-32635556-G-A | c.22C>T | p.L8= | Synonymous | 1/1 | - | 1 |
9-32635562-C-T | c.16G>A | p.D6N | Missense | 1/1 | - | 5 |
9-32635566-G-A | c.12C>T | p.G4= | Synonymous | 1/1 | - | 2 |
9-32635566-G-C | c.12C>G | p.G4= | Synonymous | 1/1 | - | 1 |
9-32635566-G-T | c.12C>A | p.G4= | Synonymous | 1/1 | - | 1 |
9-32635567-C-T | c.11G>A | p.G4D | Missense | 1/1 | - | 1 |
9-32635568-C-T | c.10G>A | p.G4S | Missense | 1/1 | - | 6 |
9-32635569-G-A | c.9C>T | p.P3= | Synonymous | 1/1 | - | 1 |
9-32635573-C-T | c.5G>A | p.R2Q | Missense | 1/1 | - | 2 |
9-32635572-T-A | c.6A>T | p.R2= | Synonymous | 1/1 | - | 2 |
9-32635572-T-C | c.6A>G | p.R2= | Synonymous | 1/1 | - | 2 |
9-32635572-T-G | c.6A>C | p.R2= | Synonymous | 1/1 | - | 2 |
9-32635574-G-A | c.4C>T | p.R2* | Nonsense | 1/1 | - | 2 |
9-32635574-G-T | c.4C>A | p.R2= | Synonymous | 1/1 | - | 3 |
9-32635575-C-A | c.3G>T | p.M1? | Missense | 1/1 | - | 1 |
9-32635575-C-G | c.3G>C | p.M1? | Missense | 1/1 | - | 1 |
9-32635575-C-T | c.3G>A | p.M1? | Missense | 1/1 | - | 1 |