TPRN

TPRN taperin

Annotation transcript: NM_001128228.3

882 unique variant annotations were identified in 251 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
9-140086132-G-A c.*432C>T - 3-UTRSNV 4/4 - 1
9-140086518-G-A c.*46C>T - 3-UTRSNV 4/4 - 1
9-140086571-T-C c.2129A>G p.Y710C Missense 4/4 - 2
9-140086573-C-A c.2127G>T p.L709= Synonymous 4/4 - 1
9-140086573-C-G c.2127G>C p.L709= Synonymous 4/4 - 1
9-140086573-C-T c.2127G>A p.L709= Synonymous 4/4 - 1
9-140086574-A-G c.2126T>C p.L709P Missense 4/4 - 1
9-140086584-C-T c.2116G>A p.E706K Missense 4/4 - 2
9-140086585-G-A c.2115C>T p.S705= Synonymous 4/4 - 1
9-140086587-T-C c.2113A>G p.S705G Missense 4/4 - 1
9-140086587-T-G c.2113A>C p.S705R Missense 4/4 - 1
9-140086588-GCG-TCA c.2110_2112delinsTGA p.R704* Nonsense 4/4 - 1
9-140086589-C-A c.2111G>T p.R704L Missense 4/4 - 1
9-140086589-C-T c.2111G>A p.R704H Missense 4/4 - 3
9-140086590-G-A c.2110C>T p.R704C Missense 4/4 - 5
9-140086595-T-C c.2105A>G p.D702G Missense 4/4 - 1
9-140086598-G-A c.2102C>T p.S701L Missense 4/4 - 2
9-140086601-A-G c.2099T>C p.L700P Missense 4/4 - 2
9-140086602-G-A c.2098C>T p.L700F Missense 4/4 - 2
9-140086604-T-G c.2096A>C p.D699A Missense 4/4 - 1
9-140086607-T-C c.2093A>G p.N698S Missense 4/4 - 1
9-140086612-A-G c.2088T>C p.S696= Synonymous 4/4 - 1
9-140086617-C-T c.2083G>A p.A695T Missense 4/4 - 3
9-140086618-G-A c.2082C>T p.P694= Synonymous 4/4 - 1
9-140086619-G-A c.2081C>T p.P694L Missense 4/4 - 1
9-140086623-T-G c.2077A>C p.T693P Missense 4/4 - 1
9-140086640-G-A c.2074-14C>T - IntronicSNV - 3/3 1
9-140086644-G-A c.2074-18C>T - IntronicSNV - 3/3 1
9-140086644-G-C c.2074-18C>G - IntronicSNV - 3/3 1
9-140086664-G-A c.2074-38C>T - IntronicSNV - 3/3 1
9-140086679-TC-T c.2073+31del - IntronicDeletion - 3/3 1
9-140086686-A-G c.2073+25T>C - IntronicSNV - 3/3 1
9-140086688-C-A c.2073+23G>T - IntronicSNV - 3/3 1
9-140086688-C-T c.2073+23G>A - IntronicSNV - 3/3 1
9-140086698-C-T c.2073+13G>A - IntronicSNV - 3/3 1
9-140086703-C-A c.2073+8G>T - IntronicSNV - 3/3 1
9-140086718-T-G c.2066A>C p.E689A Missense 3/4 - 1
9-140086722-C-T c.2062G>A p.V688M Missense 3/4 - 1
9-140086723-G-A c.2061C>T p.P687= Synonymous 3/4 - 4
9-140086726-C-A c.2058G>T p.P686= Synonymous 3/4 - 1
9-140086726-C-G c.2058G>C p.P686= Synonymous 3/4 - 1
9-140086726-C-T c.2058G>A p.P686= Synonymous 3/4 - 1
9-140086727-G-A c.2057C>T p.P686L Missense 3/4 - 3
9-140086727-G-C c.2057C>G p.P686R Missense 3/4 - 1
9-140086730-G-A c.2054C>T p.P685L Missense 3/4 - 1
9-140086734-C-G c.2050G>C p.E684Q Missense 3/4 - 2
9-140086736-G-A c.2048C>T p.A683V Missense 3/4 - 2
9-140086740-C-T c.2044G>A p.E682K Missense 3/4 - 2
9-140086745-G-A c.2039C>T p.P680L Missense 3/4 - 2
9-140086748-G-A c.2036C>T p.A679V Missense 3/4 - 1
9-140086749-C-A c.2035G>T p.A679S Missense 3/4 - 1
9-140086749-C-G c.2035G>C p.A679P Missense 3/4 - 1
9-140086750-C-A c.2034G>T p.Q678H Missense 3/4 - 1
9-140086751-T-C c.2033A>G p.Q678R Missense 3/4 - 1
9-140086755-C-G c.2029G>C p.E677Q Missense 3/4 - 2
9-140086759-C-A c.2025G>T p.A675= Synonymous 3/4 - 1
9-140086759-C-G c.2025G>C p.A675= Synonymous 3/4 - 1
9-140086759-C-T c.2025G>A p.A675= Synonymous 3/4 - 1
9-140086760-G-A c.2024C>T p.A675V Missense 3/4 - 2
9-140086761-C-A c.2023G>T p.A675S Missense 3/4 - 1
9-140086761-C-T c.2023G>A p.A675T Missense 3/4 - 4
9-140086751-T-TGCTCCAGCGCCG c.2032_2033insCGGCGCTGGAGC p.E677_Q678insPALE InFrameInsertion 3/4 - 1
9-140086767-C-G c.2017G>C p.E673Q Missense 3/4 - 1
9-140086767-C-T c.2017G>A p.E673K Missense 3/4 - 2
9-140086774-C-A c.2010G>T p.K670N Missense 3/4 - 2
9-140086774-C-G c.2010G>C p.K670N Missense 3/4 - 2
9-140086775-T-C c.2009A>G p.K670R Missense 3/4 - 1
9-140086782-A-G c.2002T>C p.F668L Missense 3/4 - 2
9-140086788-C-T c.1996G>A p.V666M Missense 3/4 - 2
9-140086793-T-C c.1991A>G p.H664R Missense 3/4 - 1
9-140086797-T-C c.1987A>G p.K663E Missense 3/4 - 1
9-140086799-G-A c.1985C>T p.P662L Missense 3/4 - 1
9-140086802-G-A c.1982C>T p.T661I Missense 3/4 - 1
9-140086809-T-C c.1975A>G p.S659G Missense 3/4 - 1
9-140086811-G-A c.1973C>T p.S658F Missense 3/4 - 4
9-140086811-G-C c.1973C>G p.S658C Missense 3/4 - 1
9-140086814-A-T c.1970T>A p.L657Q Missense 3/4 - 2
9-140086816-G-A c.1968C>T p.G656= Synonymous 3/4 - 1
9-140086816-G-C c.1968C>G p.G656= Synonymous 3/4 - 1
9-140086816-G-T c.1968C>A p.G656= Synonymous 3/4 - 1
9-140086902-C-A c.1966+1G>T - IntronicSNV - 2/3 1
9-140086908-C-T c.1961G>A p.S654N Missense 2/4 - 1
9-140086911-C-A c.1958G>T p.G653V Missense 2/4 - 1
9-140086911-C-T c.1958G>A p.G653D Missense 2/4 - 1
9-140086915-C-T c.1954G>A p.E652K Missense 2/4 - 1
9-140086917-G-A c.1952C>T p.P651L Missense 2/4 - 2
9-140086923-C-G c.1946G>C p.R649P Missense 2/4 - 1
9-140086923-C-T c.1946G>A p.R649Q Missense 2/4 - 2
9-140086924-G-A c.1945C>T p.R649W Missense 2/4 - 1
9-140086927-A-G c.1942T>C p.S648P Missense 2/4 - 1
9-140086929-C-T c.1940G>A p.S647N Missense 2/4 - 1
9-140086933-C-T c.1936G>A p.E646K Missense 2/4 - 1
9-140086936-G-A c.1933C>T p.P645S Missense 2/4 - 1
9-140086938-C-T c.1931G>A p.R644K Missense 2/4 - 2
9-140086941-A-C c.1928T>G p.V643G Missense 2/4 - 1
9-140086941-A-G c.1928T>C p.V643A Missense 2/4 - 1
9-140086942-C-T c.1927G>A p.V643M Missense 2/4 - 3
9-140086943-G-A c.1926C>T p.S642= Synonymous 2/4 - 1
9-140086951-C-A c.1918G>T p.V640L Missense 2/4 - 1
9-140086951-C-T c.1918G>A p.V640M Missense 2/4 - 1
9-140086952-A-C c.1917T>G p.F639L Missense 2/4 - 1
9-140086952-A-T c.1917T>A p.F639L Missense 2/4 - 1
9-140086954-A-G c.1915T>C p.F639L Missense 2/4 - 1
9-140086955-C-A c.1914G>T p.T638= Synonymous 2/4 - 1
9-140086955-C-G c.1914G>C p.T638= Synonymous 2/4 - 1
9-140086955-C-T c.1914G>A p.T638= Synonymous 2/4 - 1
9-140086956-G-A c.1913C>T p.T638M Missense 2/4 - 1
9-140086960-C-T c.1909G>A p.A637T Missense 2/4 - 1
9-140086962-C-G c.1907G>C p.R636P Missense 2/4 - 1
9-140086962-C-T c.1907G>A p.R636Q Missense 2/4 - 1
9-140086963-G-A c.1906C>T p.R636W Missense 2/4 - 2
9-140086970-G-A c.1899C>T p.F633= Synonymous 2/4 - 1
9-140086975-G-A c.1894C>T p.L632F Missense 2/4 - 1
9-140086975-G-C c.1894C>G p.L632V Missense 2/4 - 3
9-140086978-C-G c.1891G>C p.A631P Missense 2/4 - 1
9-140086983-G-A c.1886C>T p.P629L Missense 2/4 - 1
9-140086984-G-C c.1885C>G p.P629A Missense 2/4 - 1
9-140086990-C-G c.1879G>C p.E627Q Missense 2/4 - 1
9-140086991-C-G c.1878G>C p.E626D Missense 2/4 - 1
9-140086993-C-G c.1876G>C p.E626Q Missense 2/4 - 2
9-140086995-G-A c.1874C>T p.S625L Missense 2/4 - 3
9-140086996-A-G c.1873T>C p.S625P Missense 2/4 - 1
9-140086999-C-A c.1870G>T p.G624C Missense 2/4 - 1
9-140086999-C-T c.1870G>A p.G624S Missense 2/4 - 1
9-140087001-G-A c.1868C>T p.S623F Missense 2/4 - 1
9-140087002-A-G c.1867T>C p.S623P Missense 2/4 - 1
9-140087002-A-T c.1867T>A p.S623T Missense 2/4 - 1
9-140087006-C-A c.1863G>T p.E621D Missense 2/4 - 1
9-140087006-C-G c.1863G>C p.E621D Missense 2/4 - 1
9-140087008-C-G c.1861G>C p.E621Q Missense 2/4 - 1
9-140087011-C-CTCCTCT c.1857_1858insAGAGGA p.E619_E620insRG InFrameInsertion 2/4 - 1
9-140087011-C-T c.1858G>A p.E620K Missense 2/4 - 1
9-140087014-C-T c.1855G>A p.E619K Missense 2/4 - 1
9-140087015-CTC-GAT c.1852_1854delinsATC p.E618I Missense 2/4 - 1
9-140087017-C-T c.1852G>A p.E618K Missense 2/4 - 1
9-140087020-C-T c.1849G>A p.E617K Missense 2/4 - 1
9-140087018-TTCC-T c.1848_1850del p.E621del InFrameDeletion 2/4 - 2
9-140087021-C-A c.1848G>T p.E616D Missense 2/4 - 1
9-140087018-T-TTCCTCGTCC c.1850_1851insGGACGAGGA p.E617_E618insDEE InFrameInsertion 2/4 - 1
9-140087023-C-T c.1846G>A p.E616K Missense 2/4 - 1
9-140087012-CTCCTCT-C c.1851_1856del p.E620_E621del InFrameDeletion 2/4 - 1
9-140087021-CTCT-C c.1845_1847del p.E621del InFrameDeletion 2/4 - 1
9-140087024-T-C c.1845A>G p.E615= Synonymous 2/4 - 1
9-140087026-C-G c.1843G>C p.E615Q Missense 2/4 - 1
9-140087026-C-T c.1843G>A p.E615K Missense 2/4 - 1
9-140087030-C-T c.1839G>A p.E613= Synonymous 2/4 - 4
9-140087032-C-T c.1837G>A p.E613K Missense 2/4 - 1
9-140087034-T-C c.1835A>G p.E612G Missense 2/4 - 1
9-140087034-T-G c.1835A>C p.E612A Missense 2/4 - 1
9-140087035-C-T c.1834G>A p.E612K Missense 2/4 - 1
9-140087036-C-T c.1833G>A p.E611= Synonymous 2/4 - 1
9-140087038-C-T c.1831G>A p.E611K Missense 2/4 - 1
9-140087039-C-G c.1830G>C p.E610D Missense 2/4 - 1
9-140087044-TCC-T c.1824_1825del p.E609Gfs*45 Frameshift 2/4 - 1
9-140087045-C-T c.1824G>A p.E608= Synonymous 2/4 - 2
9-140087024-TTCCTCC-T c.1839_1844del p.E620_E621del InFrameDeletion 2/4 - 1
9-140087024-TTCC-T c.1842_1844del p.E621del InFrameDeletion 2/4 - 7
9-140087050-C-G c.1819G>C p.E607Q Missense 2/4 - 7
9-140087050-C-T c.1819G>A p.E607K Missense 2/4 - 1
9-140087058-T-C c.1811A>G p.D604G Missense 2/4 - 1
9-140087062-C-G c.1807G>C p.V603L Missense 2/4 - 1
9-140087065-C-T c.1804G>A p.E602K Missense 2/4 - 3
9-140087068-C-T c.1801G>A p.E601K Missense 2/4 - 1
9-140087071-C-T c.1798G>A p.E600K Missense 2/4 - 1
9-140087077-C-G c.1792G>C p.E598Q Missense 2/4 - 1
9-140087077-C-T c.1792G>A p.E598K Missense 2/4 - 2
9-140087082-G-C c.1787C>G p.S596C Missense 2/4 - 1
9-140087087-C-T c.1782G>A p.E594= Synonymous 2/4 - 1
9-140087089-C-T c.1780G>A p.E594K Missense 2/4 - 2
9-140087092-A-G c.1777T>C p.S593P Missense 2/4 - 2
9-140087094-G-C c.1775C>G p.P592R Missense 2/4 - 2
9-140087096-G-A c.1773C>T p.Y591= Synonymous 2/4 - 1
9-140087101-C-T c.1768G>A p.E590K Missense 2/4 - 2
9-140087109-G-C c.1760C>G p.T587S Missense 2/4 - 2
9-140087111-C-T c.1758G>A p.Q586= Synonymous 2/4 - 1
9-140087113-G-A c.1756C>T p.Q586* Nonsense 2/4 - 1
9-140087113-G-T c.1756C>A p.Q586K Missense 2/4 - 1
9-140087115-A-G c.1754T>C p.L585P Missense 2/4 - 1
9-140087121-T-C c.1748A>G p.K583R Missense 2/4 - 3
9-140087122-T-G c.1747A>C p.K583Q Missense 2/4 - 1
9-140087125-C-T c.1744G>A p.D582N Missense 2/4 - 2
9-140087126-G-A c.1743C>T p.N581= Synonymous 2/4 - 3
9-140087126-G-C c.1743C>G p.N581K Missense 2/4 - 1
9-140087127-T-C c.1742A>G p.N581S Missense 2/4 - 1
9-140087130-A-G c.1739T>C p.F580S Missense 2/4 - 1
9-140087779-C-T c.1726-636G>A - IntronicSNV - 1/3 1
9-140093403-T-G c.1725+36A>C - IntronicSNV - 1/3 1
9-140093429-C-G c.1725+10G>C - IntronicSNV - 1/3 1
9-140093434-C-T c.1725+5G>A - IntronicSNV - 1/3 1
9-140093438-C-T c.1725+1G>A - IntronicSNV - 1/3 1
9-140093439-C-A c.1725G>T p.K575N Missense 1/4 - 1
9-140093440-T-G c.1724A>C p.K575T Missense 1/4 - 2
9-140093438-CCTT-C c.1723_1725del p.K575del SpliceDonorDeletion 1/4 - 1
9-140093442-C-A c.1722G>T p.K574N Missense 1/4 - 1
9-140093442-C-T c.1722G>A p.K574= Synonymous 1/4 - 1
9-140093443-T-C c.1721A>G p.K574R Missense 1/4 - 2
9-140093446-C-G c.1718G>C p.R573T Missense 1/4 - 1
9-140093446-C-T c.1718G>A p.R573K Missense 1/4 - 1
9-140093449-G-A c.1715C>T p.S572L Missense 1/4 - 1
9-140093451-G-A c.1713C>T p.S571= Synonymous 1/4 - 1
9-140093451-G-C c.1713C>G p.S571= Synonymous 1/4 - 1
9-140093451-G-T c.1713C>A p.S571= Synonymous 1/4 - 1
9-140093452-G-A c.1712C>T p.S571F Missense 1/4 - 2
9-140093452-G-C c.1712C>G p.S571C Missense 1/4 - 1
9-140093456-C-T c.1708G>A p.G570S Missense 1/4 - 2
9-140093458-G-A c.1706C>T p.A569V Missense 1/4 - 2
9-140093458-G-C c.1706C>G p.A569G Missense 1/4 - 1
9-140093459-C-A c.1705G>T p.A569S Missense 1/4 - 1
9-140093464-G-A c.1700C>T p.T567I Missense 1/4 - 3
9-140093464-G-C c.1700C>G p.T567S Missense 1/4 - 2
9-140093468-G-A c.1696C>T p.L566F Missense 1/4 - 1
9-140093468-G-C c.1696C>G p.L566V Missense 1/4 - 1
9-140093469-G-A c.1695C>T p.C565= Synonymous 1/4 - 1
9-140093469-G-T c.1695C>A p.C565* Nonsense 1/4 - 1
9-140093470-C-T c.1694G>A p.C565Y Missense 1/4 - 2
9-140093473-G-C c.1691C>G p.S564C Missense 1/4 - 1
9-140093474-A-T c.1690T>A p.S564T Missense 1/4 - 1
9-140093483-G-C c.1681C>G p.L561V Missense 1/4 - 1
9-140093486-C-T c.1678G>A p.A560T Missense 1/4 - 3
9-140093495-C-T c.1669G>A p.G557S Missense 1/4 - 4
9-140093492-AGCC-A c.1669_1671del p.G557del InFrameDeletion 1/4 - 1
9-140093497-C-T c.1667G>A p.G556D Missense 1/4 - 1
9-140093500-A-G c.1664T>C p.I555T Missense 1/4 - 1
9-140093501-T-C c.1663A>G p.I555V Missense 1/4 - 3
9-140093501-TCAC-T c.1660_1662del p.V554del InFrameDeletion 1/4 - 1
9-140093503-A-C c.1661T>G p.V554G Missense 1/4 - 1
9-140093504-C-G c.1660G>C p.V554L Missense 1/4 - 1
9-140093504-C-T c.1660G>A p.V554M Missense 1/4 - 1
9-140093507-C-T c.1657G>A p.E553K Missense 1/4 - 2
9-140093508-G-C c.1656C>G p.I552M Missense 1/4 - 2
9-140093509-A-T c.1655T>A p.I552N Missense 1/4 - 2
9-140093511-C-T c.1653G>A p.E551= Synonymous 1/4 - 2
9-140093513-C-G c.1651G>C p.E551Q Missense 1/4 - 1
9-140093514-A-C c.1650T>G p.H550Q Missense 1/4 - 4
9-140093514-A-T c.1650T>A p.H550Q Missense 1/4 - 2
9-140093515-T-C c.1649A>G p.H550R Missense 1/4 - 2
9-140093516-G-C c.1648C>G p.H550D Missense 1/4 - 1
9-140093519-C-T c.1645G>A p.V549M Missense 1/4 - 2
9-140093521-G-A c.1643C>T p.T548I Missense 1/4 - 1
9-140093522-T-C c.1642A>G p.T548A Missense 1/4 - 1
9-140093522-T-G c.1642A>C p.T548P Missense 1/4 - 2
9-140093525-G-T c.1639C>A p.P547T Missense 1/4 - 1
9-140093527-T-C c.1637A>G p.Y546C Missense 1/4 - 1
9-140093527-T-G c.1637A>C p.Y546S Missense 1/4 - 1
9-140093530-C-T c.1634G>A p.R545H Missense 1/4 - 4
9-140093531-G-A c.1633C>T p.R545C Missense 1/4 - 1
9-140093531-G-T c.1633C>A p.R545S Missense 1/4 - 1
9-140093545-G-A c.1619C>T p.P540L Missense 1/4 - 2
9-140093546-G-A c.1618C>T p.P540S Missense 1/4 - 1
9-140093548-C-T c.1616G>A p.G539E Missense 1/4 - 1
9-140093552-G-T c.1612C>A p.L538M Missense 1/4 - 1
9-140093554-A-T c.1610T>A p.L537H Missense 1/4 - 3
9-140093555-G-A c.1609C>T p.L537F Missense 1/4 - 2
9-140093557-C-A c.1607G>T p.C536F Missense 1/4 - 1
9-140093557-C-T c.1607G>A p.C536Y Missense 1/4 - 1
9-140093559-A-C c.1605T>G p.S535R Missense 1/4 - 1
9-140093563-G-A c.1601C>T p.A534V Missense 1/4 - 1
9-140093564-C-A c.1600G>T p.A534S Missense 1/4 - 1
9-140093565-C-G c.1599G>C p.E533D Missense 1/4 - 2
9-140093566-T-G c.1598A>C p.E533A Missense 1/4 - 2
9-140093576-C-T c.1588G>A p.E530K Missense 1/4 - 2
9-140093578-G-A c.1586C>T p.A529V Missense 1/4 - 1
9-140093579-C-G c.1585G>C p.A529P Missense 1/4 - 1
9-140093579-C-T c.1585G>A p.A529T Missense 1/4 - 1
9-140093581-T-A c.1583A>T p.E528V Missense 1/4 - 1
9-140093584-C-A c.1580G>T p.R527L Missense 1/4 - 1
9-140093584-C-G c.1580G>C p.R527P Missense 1/4 - 2
9-140093584-C-T c.1580G>A p.R527Q Missense 1/4 - 1
9-140093585-G-A c.1579C>T p.R527W Missense 1/4 - 2
9-140093588-G-A c.1576C>T p.P526S Missense 1/4 - 1
9-140093590-C-G c.1574G>C p.R525P Missense 1/4 - 2
9-140093590-C-T c.1574G>A p.R525Q Missense 1/4 - 2
9-140093591-G-A c.1573C>T p.R525W Missense 1/4 - 2
9-140093591-G-C c.1573C>G p.R525G Missense 1/4 - 1
9-140093595-C-G c.1569G>C p.E523D Missense 1/4 - 1
9-140093597-C-T c.1567G>A p.E523K Missense 1/4 - 1
9-140093603-T-C c.1561A>G p.N521D Missense 1/4 - 2
9-140093608-T-C c.1556A>G p.Q519R Missense 1/4 - 1
9-140093611-C-A c.1553G>T p.S518I Missense 1/4 - 1
9-140093612-T-A c.1552A>T p.S518C Missense 1/4 - 2
9-140093619-C-A c.1545G>T p.Q515H Missense 1/4 - 1
9-140093620-T-G c.1544A>C p.Q515P Missense 1/4 - 1
9-140093624-C-T c.1540G>A p.D514N Missense 1/4 - 1
9-140093626-T-A c.1538A>T p.Q513L Missense 1/4 - 1
9-140093628-C-A c.1536G>T p.L512= Synonymous 1/4 - 1
9-140093628-C-G c.1536G>C p.L512= Synonymous 1/4 - 1
9-140093628-C-T c.1536G>A p.L512= Synonymous 1/4 - 1
9-140093630-G-A c.1534C>T p.L512= Synonymous 1/4 - 1
9-140093630-G-C c.1534C>G p.L512V Missense 1/4 - 1
9-140093632-G-A c.1532C>T p.T511I Missense 1/4 - 1
9-140093633-T-C c.1531A>G p.T511A Missense 1/4 - 1
9-140093635-C-A c.1529G>T p.G510V Missense 1/4 - 1
9-140093646-C-A c.1518G>T p.K506N Missense 1/4 - 1
9-140093646-C-G c.1518G>C p.K506N Missense 1/4 - 1
9-140093647-T-C c.1517A>G p.K506R Missense 1/4 - 2
9-140093647-T-G c.1517A>C p.K506T Missense 1/4 - 2
9-140093648-T-C c.1516A>G p.K506E Missense 1/4 - 1
9-140093651-G-A c.1513C>T p.P505S Missense 1/4 - 3
9-140093651-G-C c.1513C>G p.P505A Missense 1/4 - 1
9-140093653-A-G c.1511T>C p.V504A Missense 1/4 - 2
9-140093656-A-C c.1508T>G p.V503G Missense 1/4 - 2
9-140093657-C-A c.1507G>T p.V503L Missense 1/4 - 1
9-140093658-TG-CA c.1505_1506inv p.T502M Missense 1/4 - 1
9-140093662-A-G c.1502T>C p.F501S Missense 1/4 - 1
9-140093667-G-A c.1497C>T p.N499= Synonymous 1/4 - 1
9-140093669-T-C c.1495A>G p.N499D Missense 1/4 - 2
9-140093671-C-G c.1493G>C p.S498T Missense 1/4 - 2
9-140093674-C-A c.1490G>T p.G497V Missense 1/4 - 1
9-140093677-C-G c.1487G>C p.R496P Missense 1/4 - 1
9-140093677-C-T c.1487G>A p.R496Q Missense 1/4 - 2
9-140093678-G-A c.1486C>T p.R496W Missense 1/4 - 4
9-140093680-G-A c.1484C>T p.P495L Missense 1/4 - 1
9-140093684-G-C c.1480C>G p.Q494E Missense 1/4 - 3
9-140093687-G-A c.1477C>T p.L493F Missense 1/4 - 1
9-140093690-C-G c.1474G>C p.E492Q Missense 1/4 - 1
9-140093690-C-T c.1474G>A p.E492K Missense 1/4 - 3
9-140093692-G-C c.1472C>G p.A491G Missense 1/4 - 1
9-140093693-C-T c.1471G>A p.A491T Missense 1/4 - 1
9-140093696-C-T c.1468G>A p.V490M Missense 1/4 - 3
9-140093699-A-C c.1465T>G p.C489G Missense 1/4 - 1
9-140093702-C-G c.1462G>C p.G488R Missense 1/4 - 1
9-140093702-C-T c.1462G>A p.G488R Missense 1/4 - 3
9-140093704-G-A c.1460C>T p.P487L Missense 1/4 - 1
9-140093714-G-A c.1450C>T p.P484S Missense 1/4 - 1
9-140093717-G-T c.1447C>A p.H483N Missense 1/4 - 2
9-140093703-GGGCCTGGCAGGGTGCAGA-G c.1443_1460del p.L482_P487del InFrameDeletion 1/4 - 1
9-140093720-G-C c.1444C>G p.L482V Missense 1/4 - 2
9-140093725-C-T c.1439G>A p.R480K Missense 1/4 - 2
9-140093726-T-A c.1438A>T p.R480W Missense 1/4 - 2
9-140093728-G-A c.1436C>T p.A479V Missense 1/4 - 1
9-140093731-G-A c.1433C>T p.P478L Missense 1/4 - 2
9-140093731-G-T c.1433C>A p.P478H Missense 1/4 - 1
9-140093732-G-C c.1432C>G p.P478A Missense 1/4 - 2
9-140093737-G-A c.1427C>T p.P476L Missense 1/4 - 1
9-140093736-CG-C c.1427del p.P476Rfs*67 Frameshift 1/4 - 1
9-140093740-A-G c.1424T>C p.L475P Missense 1/4 - 1
9-140093741-G-A c.1423C>T p.L475F Missense 1/4 - 2
9-140093741-G-C c.1423C>G p.L475V Missense 1/4 - 2
9-140093746-G-A c.1418C>T p.P473L Missense 1/4 - 2
9-140093746-G-C c.1418C>G p.P473R Missense 1/4 - 1
9-140093747-G-A c.1417C>T p.P473S Missense 1/4 - 1
9-140093754-G-A c.1410C>T p.A470= Synonymous 1/4 - 1
9-140093754-G-C c.1410C>G p.A470= Synonymous 1/4 - 1
9-140093754-G-T c.1410C>A p.A470= Synonymous 1/4 - 1
9-140093758-G-A c.1406C>T p.A469V Missense 1/4 - 1
9-140093762-G-T c.1402C>A p.Q468K Missense 1/4 - 1
9-140093764-G-C c.1400C>G p.P467R Missense 1/4 - 2
9-140093765-G-A c.1399C>T p.P467S Missense 1/4 - 1
9-140093761-TG-T c.1402del p.Q468Kfs*75 Frameshift 1/4 - 1
9-140093761-T-TG c.1402dup p.Q468Pfs*68 Frameshift 1/4 - 1
9-140093767-G-T c.1397C>A p.A466D Missense 1/4 - 1
9-140093768-C-G c.1396G>C p.A466P Missense 1/4 - 1
9-140093776-G-A c.1388C>T p.S463L Missense 1/4 - 3
9-140093778-G-T c.1386C>A p.D462E Missense 1/4 - 1
9-140093779-T-G c.1385A>C p.D462A Missense 1/4 - 2
9-140093780-C-G c.1384G>C p.D462H Missense 1/4 - 1
9-140093781-T-A c.1383A>T p.V461= Synonymous 1/4 - 1
9-140093781-T-C c.1383A>G p.V461= Synonymous 1/4 - 1
9-140093781-T-G c.1383A>C p.V461= Synonymous 1/4 - 1
9-140093786-C-A c.1378G>T p.E460* Nonsense 1/4 - 1
9-140093786-C-T c.1378G>A p.E460K Missense 1/4 - 1
9-140093788-T-C c.1376A>G p.D459G Missense 1/4 - 2
9-140093789-C-T c.1375G>A p.D459N Missense 1/4 - 1
9-140093793-G-T c.1371C>A p.F457L Missense 1/4 - 1
9-140093795-A-G c.1369T>C p.F457L Missense 1/4 - 1
9-140093796-GG-CT c.1367_1368delinsAG p.T456K Missense 1/4 - 1
9-140093797-G-C c.1367C>G p.T456S Missense 1/4 - 1
9-140093799-G-C c.1365C>G p.V455= Synonymous 1/4 - 1
9-140093803-G-A c.1361C>T p.P454L Missense 1/4 - 2
9-140093803-G-C c.1361C>G p.P454R Missense 1/4 - 1
9-140093812-G-A c.1352C>T p.P451L Missense 1/4 - 1
9-140093813-G-A c.1351C>T p.P451S Missense 1/4 - 1
9-140093814-C-A c.1350G>T p.R450S Missense 1/4 - 2
9-140093817-TC-T c.1347del p.R450Gfs*12 Frameshift 1/4 - 3
9-140093818-A-C c.1346T>G p.V449G Missense 1/4 - 1
9-140093819-C-T c.1345G>A p.V449M Missense 1/4 - 2
9-140093821-T-A c.1343A>T p.Y448F Missense 1/4 - 1
9-140093825-C-G c.1339G>C p.E447Q Missense 1/4 - 1
9-140093827-C-A c.1337G>T p.R446L Missense 1/4 - 1
9-140093827-C-G c.1337G>C p.R446P Missense 1/4 - 1
9-140093827-C-T c.1337G>A p.R446Q Missense 1/4 - 1
9-140093828-G-A c.1336C>T p.R446W Missense 1/4 - 1
9-140093830-C-A c.1334G>T p.S445I Missense 1/4 - 1
9-140093830-C-G c.1334G>C p.S445T Missense 1/4 - 1
9-140093831-T-C c.1333A>G p.S445G Missense 1/4 - 2
9-140093853-C-G c.1311G>C p.R437S Missense 1/4 - 2
9-140093860-C-T c.1304G>A p.G435D Missense 1/4 - 2
9-140093867-C-T c.1297G>A p.A433T Missense 1/4 - 1
9-140093869-G-A c.1295C>T p.P432L Missense 1/4 - 1
9-140093869-G-C c.1295C>G p.P432R Missense 1/4 - 1
9-140093870-G-C c.1294C>G p.P432A Missense 1/4 - 1
9-140093873-C-T c.1291G>A p.E431K Missense 1/4 - 2
9-140093884-G-A c.1280C>T p.S427L Missense 1/4 - 1
9-140093884-G-C c.1280C>G p.S427W Missense 1/4 - 1
9-140093885-A-C c.1279T>G p.S427A Missense 1/4 - 1
9-140093886-A-C c.1278T>G p.A426= Synonymous 1/4 - 1
9-140093886-A-G c.1278T>C p.A426= Synonymous 1/4 - 1
9-140093886-A-T c.1278T>A p.A426= Synonymous 1/4 - 1
9-140093887-G-A c.1277C>T p.A426V Missense 1/4 - 2
9-140093888-C-G c.1276G>C p.A426P Missense 1/4 - 1
9-140093888-C-T c.1276G>A p.A426T Missense 1/4 - 1
9-140093890-G-A c.1274C>T p.A425V Missense 1/4 - 1
9-140093893-G-A c.1271C>T p.P424L Missense 1/4 - 1
9-140093902-G-C c.1262C>G p.P421R Missense 1/4 - 1
9-140093902-G-T c.1262C>A p.P421H Missense 1/4 - 1
9-140093903-G-A c.1261C>T p.P421S Missense 1/4 - 1
9-140093905-G-A c.1259C>T p.P420L Missense 1/4 - 3
9-140093905-G-C c.1259C>G p.P420R Missense 1/4 - 1
9-140093906-G-A c.1258C>T p.P420S Missense 1/4 - 1
9-140093907-C-A c.1257G>T p.P419= Synonymous 1/4 - 1
9-140093908-G-A c.1256C>T p.P419L Missense 1/4 - 7
9-140093909-G-A c.1255C>T p.P419S Missense 1/4 - 1
9-140093910-T-A c.1254A>T p.S418= Synonymous 1/4 - 1
9-140093910-T-C c.1254A>G p.S418= Synonymous 1/4 - 1
9-140093910-T-G c.1254A>C p.S418= Synonymous 1/4 - 1
9-140093911-G-A c.1253C>T p.S418L Missense 1/4 - 1
9-140093916-C-A c.1248G>T p.P416= Synonymous 1/4 - 1
9-140093916-C-G c.1248G>C p.P416= Synonymous 1/4 - 1
9-140093916-C-T c.1248G>A p.P416= Synonymous 1/4 - 2
9-140093917-G-A c.1247C>T p.P416L Missense 1/4 - 2
9-140093918-G-A c.1246C>T p.P416S Missense 1/4 - 1
9-140093923-T-C c.1241A>G p.Q414R Missense 1/4 - 1
9-140093924-G-A c.1240C>T p.Q414* Nonsense 1/4 - 1
9-140093925-C-T c.1239G>A p.W413* Nonsense 1/4 - 3
9-140093926-C-T c.1238G>A p.W413* Nonsense 1/4 - 2
9-140093924-GCCA-G c.1237_1239del p.W413del InFrameDeletion 1/4 - 1
9-140093931-AA-CT c.1232_1233delinsAG p.I411K Missense 1/4 - 1
9-140093932-A-T c.1232T>A p.I411N Missense 1/4 - 1
9-140093938-C-A c.1226G>T p.R409L Missense 1/4 - 1
9-140093938-C-T c.1226G>A p.R409Q Missense 1/4 - 1
9-140093939-G-A c.1225C>T p.R409W Missense 1/4 - 2
9-140093939-G-C c.1225C>G p.R409G Missense 1/4 - 2
9-140093940-G-C c.1224C>G p.D408E Missense 1/4 - 1
9-140093940-G-T c.1224C>A p.D408E Missense 1/4 - 1
9-140093944-G-T c.1220C>A p.A407D Missense 1/4 - 2
9-140093952-G-A c.1212C>T p.T404= Synonymous 1/4 - 1
9-140093958-T-A c.1206A>T p.T402= Synonymous 1/4 - 1
9-140093958-T-C c.1206A>G p.T402= Synonymous 1/4 - 2
9-140093958-T-G c.1206A>C p.T402= Synonymous 1/4 - 1
9-140093959-G-T c.1205C>A p.T402K Missense 1/4 - 1
9-140093961-C-A c.1203G>T p.R401S Missense 1/4 - 2
9-140093971-G-A c.1193C>T p.A398V Missense 1/4 - 1
9-140093972-C-A c.1192G>T p.A398S Missense 1/4 - 1
9-140093972-C-T c.1192G>A p.A398T Missense 1/4 - 2
9-140093974-C-T c.1190G>A p.G397E Missense 1/4 - 1
9-140093976-C-A c.1188G>T p.E396D Missense 1/4 - 1
9-140093980-T-C c.1184A>G p.E395G Missense 1/4 - 1
9-140093981-C-G c.1183G>C p.E395Q Missense 1/4 - 1
9-140093981-C-T c.1183G>A p.E395K Missense 1/4 - 1
9-140093982-G-A c.1182C>T p.V394= Synonymous 1/4 - 1
9-140093982-G-C c.1182C>G p.V394= Synonymous 1/4 - 1
9-140093982-G-T c.1182C>A p.V394= Synonymous 1/4 - 1
9-140093987-C-T c.1177G>A p.A393T Missense 1/4 - 1
9-140093988-C-G c.1176G>C p.W392C Missense 1/4 - 2
9-140093989-C-G c.1175G>C p.W392S Missense 1/4 - 1
9-140093996-C-A c.1168G>T p.A390S Missense 1/4 - 1
9-140093999-C-T c.1165G>A p.E389K Missense 1/4 - 1
9-140094001-A-G c.1163T>C p.V388A Missense 1/4 - 1
9-140094007-A-G c.1157T>C p.L386P Missense 1/4 - 1
9-140094011-G-T c.1153C>A p.P385T Missense 1/4 - 2
9-140094012-G-C c.1152C>G p.S384R Missense 1/4 - 3
9-140094012-G-T c.1152C>A p.S384R Missense 1/4 - 2
9-140094017-T-C c.1147A>G p.K383E Missense 1/4 - 1
9-140094020-C-T c.1144G>A p.G382R Missense 1/4 - 1
9-140094023-G-A c.1141C>T p.L381F Missense 1/4 - 1
9-140094026-C-A c.1138G>T p.A380S Missense 1/4 - 2
9-140094026-C-T c.1138G>A p.A380T Missense 1/4 - 1
9-140094029-G-A c.1135C>T p.P379S Missense 1/4 - 1
9-140094030-C-T c.1134G>A p.A378= Synonymous 1/4 - 1
9-140094031-G-C c.1133C>G p.A378G Missense 1/4 - 2
9-140094032-C-T c.1132G>A p.A378T Missense 1/4 - 1
9-140094040-C-G c.1124G>C p.G375A Missense 1/4 - 1
9-140094041-C-T c.1123G>A p.G375R Missense 1/4 - 1
9-140094044-C-T c.1120G>A p.G374R Missense 1/4 - 2
9-140094046-G-A c.1118C>T p.P373L Missense 1/4 - 1
9-140094050-C-T c.1114G>A p.V372M Missense 1/4 - 1
9-140094051-C-A c.1113G>T p.P371= Synonymous 1/4 - 1
9-140094051-C-G c.1113G>C p.P371= Synonymous 1/4 - 1
9-140094051-C-T c.1113G>A p.P371= Synonymous 1/4 - 1
9-140094052-G-A c.1112C>T p.P371L Missense 1/4 - 2
9-140094053-G-A c.1111C>T p.P371S Missense 1/4 - 1
9-140094056-G-A c.1108C>T p.Q370* Nonsense 1/4 - 1
9-140094059-A-T c.1105T>A p.S369T Missense 1/4 - 1
9-140094061-C-A c.1103G>T p.G368V Missense 1/4 - 1
9-140094062-C-CG c.1101dup p.G368Rfs*41 Frameshift 1/4 - 1
9-140094070-T-C c.1094A>G p.Q365R Missense 1/4 - 1
9-140094072-G-A c.1092C>T p.S364= Synonymous 1/4 - 1
9-140094074-T-A c.1090A>T p.S364C Missense 1/4 - 1
9-140094076-G-A c.1088C>T p.P363L Missense 1/4 - 1
9-140094077-G-A c.1087C>T p.P363S Missense 1/4 - 1
9-140094080-A-T c.1084T>A p.S362T Missense 1/4 - 1
9-140094083-C-T c.1081G>A p.A361T Missense 1/4 - 1
9-140094084-C-A c.1080G>T p.P360= Synonymous 1/4 - 1
9-140094084-C-G c.1080G>C p.P360= Synonymous 1/4 - 1
9-140094084-C-T c.1080G>A p.P360= Synonymous 1/4 - 1
9-140094085-G-A c.1079C>T p.P360L Missense 1/4 - 1
9-140094089-C-A c.1075G>T p.G359C Missense 1/4 - 1
9-140094091-A-G c.1073T>C p.L358P Missense 1/4 - 4
9-140094094-T-A c.1070A>T p.D357V Missense 1/4 - 1
9-140094097-C-A c.1067G>T p.G356V Missense 1/4 - 1
9-140094097-C-G c.1067G>C p.G356A Missense 1/4 - 1
9-140094098-C-T c.1066G>A p.G356R Missense 1/4 - 1
9-140094099-C-A c.1065G>T p.K355N Missense 1/4 - 1
9-140094104-G-A c.1060C>T p.P354S Missense 1/4 - 2
9-140094105-C-A c.1059G>T p.L353= Synonymous 1/4 - 1
9-140094108-C-T c.1056G>A p.E352= Synonymous 1/4 - 3
9-140094110-C-A c.1054G>T p.E352* Nonsense 1/4 - 1
9-140094113-C-T c.1051G>A p.V351M Missense 1/4 - 1
9-140094114-G-T c.1050C>A p.S350= Synonymous 1/4 - 1
9-140094115-G-A c.1049C>T p.S350F Missense 1/4 - 1
9-140094115-G-C c.1049C>G p.S350C Missense 1/4 - 1
9-140094116-A-C c.1048T>G p.S350A Missense 1/4 - 1
9-140094118-CT-C c.1046del p.Q349Rfs*101 Frameshift 1/4 - 1
9-140094124-C-G c.1040G>C p.G347A Missense 1/4 - 1
9-140094124-C-T c.1040G>A p.G347E Missense 1/4 - 1
9-140094125-C-A c.1039G>T p.G347W Missense 1/4 - 1
9-140094127-T-A c.1037A>T p.E346V Missense 1/4 - 1
9-140094131-G-A c.1033C>T p.P345S Missense 1/4 - 2
9-140094133-G-A c.1031C>T p.P344L Missense 1/4 - 1
9-140094137-G-T c.1027C>A p.P343T Missense 1/4 - 2
9-140094143-C-T c.1021G>A p.G341R Missense 1/4 - 1
9-140094144-G-A c.1020C>T p.S340= Synonymous 1/4 - 1
9-140094145-G-A c.1019C>T p.S340F Missense 1/4 - 1
9-140094148-G-A c.1016C>T p.A339V Missense 1/4 - 1
9-140094154-C-T c.1010G>A p.S337N Missense 1/4 - 1
9-140094155-T-C c.1009A>G p.S337G Missense 1/4 - 1
9-140094167-C-G c.997G>C p.V333L Missense 1/4 - 2
9-140094170-T-C c.994A>G p.M332V Missense 1/4 - 1
9-140094171-G-C c.993C>G p.F331L Missense 1/4 - 1
9-140094172-A-G c.992T>C p.F331S Missense 1/4 - 1
9-140094175-G-C c.989C>G p.S330C Missense 1/4 - 2
9-140094180-TCG-CCA c.982_984delinsTGG p.R328W Missense 1/4 - 1
9-140094181-C-T c.983G>A p.R328Q Missense 1/4 - 1
9-140094182-G-C c.982C>G p.R328G Missense 1/4 - 1
9-140094182-G-T c.982C>A p.R328= Synonymous 1/4 - 1
9-140094184-G-C c.980C>G p.S327C Missense 1/4 - 2
9-140094185-A-G c.979T>C p.S327P Missense 1/4 - 1
9-140094186-G-C c.978C>G p.N326K Missense 1/4 - 1
9-140094187-T-C c.977A>G p.N326S Missense 1/4 - 1
9-140094190-G-C c.974C>G p.A325G Missense 1/4 - 3
9-140094191-C-A c.973G>T p.A325S Missense 1/4 - 1
9-140094191-C-T c.973G>A p.A325T Missense 1/4 - 1
9-140094192-GCG-TCA c.970_972delinsTGA p.R324* Nonsense 1/4 - 1
9-140094193-C-A c.971G>T p.R324L Missense 1/4 - 2
9-140094194-G-A c.970C>T p.R324C Missense 1/4 - 1
9-140094194-G-C c.970C>G p.R324G Missense 1/4 - 1
9-140094195-G-A c.969C>T p.L323= Synonymous 1/4 - 1
9-140094195-G-C c.969C>G p.L323= Synonymous 1/4 - 1
9-140094196-A-G c.968T>C p.L323P Missense 1/4 - 1
9-140094197-G-C c.967C>G p.L323V Missense 1/4 - 2
9-140094199-C-A c.965G>T p.S322I Missense 1/4 - 1
9-140094199-C-T c.965G>A p.S322N Missense 1/4 - 1
9-140094208-G-T c.956C>A p.A319E Missense 1/4 - 1
9-140094211-C-T c.953G>A p.R318Q Missense 1/4 - 2
9-140094212-G-A c.952C>T p.R318W Missense 1/4 - 1
9-140094214-G-T c.950C>A p.A317D Missense 1/4 - 1
9-140094217-T-C c.947A>G p.Q316R Missense 1/4 - 1
9-140094220-A-ATT c.943_944insAA p.L315Qfs*136 Frameshift 1/4 - 1
9-140094220-A-G c.944T>C p.L315P Missense 1/4 - 1
9-140094220-A-T c.944T>A p.L315H Missense 1/4 - 1
9-140094221-G-A c.943C>T p.L315F Missense 1/4 - 1
9-140094220-A-AG c.943dup p.L315Pfs*32 Frameshift 1/4 - 1
9-140094224-C-T c.940G>A p.D314N Missense 1/4 - 1
9-140094226-C-T c.938G>A p.G313E Missense 1/4 - 1
9-140094227-C-G c.937G>C p.G313R Missense 1/4 - 1
9-140094227-C-T c.937G>A p.G313R Missense 1/4 - 1
9-140094232-G-A c.932C>T p.P311L Missense 1/4 - 1
9-140094233-G-C c.931C>G p.P311A Missense 1/4 - 1
9-140094240-C-T c.924G>A p.E308= Synonymous 1/4 - 1
9-140094243-C-T c.921G>A p.M307I Missense 1/4 - 1
9-140094244-A-G c.920T>C p.M307T Missense 1/4 - 1
9-140094245-T-A c.919A>T p.M307L Missense 1/4 - 1
9-140094246-AAC-CAT c.916_918delinsATG p.V306M Missense 1/4 - 1
9-140094246-A-C c.918T>G p.V306= Synonymous 1/4 - 1
9-140094246-A-G c.918T>C p.V306= Synonymous 1/4 - 1
9-140094246-A-T c.918T>A p.V306= Synonymous 1/4 - 1
9-140094250-G-A c.914C>T p.P305L Missense 1/4 - 4
9-140094254-T-G c.910A>C p.K304Q Missense 1/4 - 1
9-140094257-G-GGCTCCTCCA c.906_907insTGGAGGAGC p.A302_P303insWRS InFrameInsertion 1/4 - 1
9-140094258-G-A c.906C>T p.A302= Synonymous 1/4 - 2
9-140094259-G-A c.905C>T p.A302V Missense 1/4 - 1
9-140094259-G-C c.905C>G p.A302G Missense 1/4 - 2
9-140094259-G-T c.905C>A p.A302D Missense 1/4 - 2
9-140094266-G-C c.898C>G p.R300G Missense 1/4 - 1
9-140094267-T-C c.897A>G p.I299M Missense 1/4 - 1
9-140094268-A-G c.896T>C p.I299T Missense 1/4 - 1
9-140094270-C-A c.894G>T p.E298D Missense 1/4 - 1
9-140094270-C-G c.894G>C p.E298D Missense 1/4 - 3
9-140094272-C-G c.892G>C p.E298Q Missense 1/4 - 1
9-140094273-G-C c.891C>G p.F297L Missense 1/4 - 2
9-140094275-A-G c.889T>C p.F297L Missense 1/4 - 1
9-140094279-G-C c.885C>G p.D295E Missense 1/4 - 1
9-140094280-T-A c.884A>T p.D295V Missense 1/4 - 1
9-140094280-T-C c.884A>G p.D295G Missense 1/4 - 1
9-140094289-C-T c.875G>A p.S292N Missense 1/4 - 1
9-140094292-G-A c.872C>T p.T291I Missense 1/4 - 1
9-140094292-G-C c.872C>G p.T291S Missense 1/4 - 1
9-140094293-T-C c.871A>G p.T291A Missense 1/4 - 1
9-140094293-T-G c.871A>C p.T291P Missense 1/4 - 1
9-140094296-C-G c.868G>C p.A290P Missense 1/4 - 1
9-140094301-G-A c.863C>T p.S288F Missense 1/4 - 2
9-140094301-G-C c.863C>G p.S288C Missense 1/4 - 3
9-140094301-G-T c.863C>A p.S288Y Missense 1/4 - 2
9-140094303-G-A c.861C>T p.V287= Synonymous 1/4 - 1
9-140094306-G-A c.858C>T p.C286= Synonymous 1/4 - 2
9-140094309-C-A c.855G>T p.Q285H Missense 1/4 - 1
9-140094309-C-G c.855G>C p.Q285H Missense 1/4 - 1
9-140094310-T-C c.854A>G p.Q285R Missense 1/4 - 1
9-140094313-C-T c.851G>A p.R284H Missense 1/4 - 2
9-140094320-T-C c.844A>G p.S282G Missense 1/4 - 1
9-140094323-G-C c.841C>G p.P281A Missense 1/4 - 1
9-140094325-G-A c.839C>T p.T280I Missense 1/4 - 1
9-140094325-G-C c.839C>G p.T280S Missense 1/4 - 2
9-140094331-C-G c.833G>C p.S278T Missense 1/4 - 1
9-140094332-T-C c.832A>G p.S278G Missense 1/4 - 1
9-140094334-G-A c.830C>T p.A277V Missense 1/4 - 1
9-140094337-G-A c.827C>T p.P276L Missense 1/4 - 1
9-140094342-T-A c.822A>T p.S274= Synonymous 1/4 - 1
9-140094342-T-C c.822A>G p.S274= Synonymous 1/4 - 1
9-140094342-T-G c.822A>C p.S274= Synonymous 1/4 - 1
9-140094349-G-A c.815C>T p.P272L Missense 1/4 - 1
9-140094350-G-T c.814C>A p.P272T Missense 1/4 - 1
9-140094357-A-C c.807T>G p.S269R Missense 1/4 - 1
9-140094358-C-T c.806G>A p.S269N Missense 1/4 - 1
9-140094359-T-C c.805A>G p.S269G Missense 1/4 - 1
9-140094360-C-G c.804G>C p.P268= Synonymous 1/4 - 1
9-140094362-G-A c.802C>T p.P268S Missense 1/4 - 1
9-140094363-G-A c.801C>T p.T267= Synonymous 1/4 - 1
9-140094363-G-C c.801C>G p.T267= Synonymous 1/4 - 1
9-140094363-G-T c.801C>A p.T267= Synonymous 1/4 - 1
9-140094365-T-C c.799A>G p.T267A Missense 1/4 - 2
9-140094368-C-G c.796G>C p.G266R Missense 1/4 - 3
9-140094368-C-T c.796G>A p.G266R Missense 1/4 - 2
9-140094369-G-A c.795C>T p.P265= Synonymous 1/4 - 1
9-140094372-G-C c.792C>G p.S264R Missense 1/4 - 4
9-140094372-G-T c.792C>A p.S264R Missense 1/4 - 4
9-140094373-C-T c.791G>A p.S264N Missense 1/4 - 1
9-140094373-CT-GG c.790_791delinsCC p.S264P Missense 1/4 - 1
9-140094374-T-G c.790A>C p.S264R Missense 1/4 - 8
9-140094377-G-A c.787C>T p.P263S Missense 1/4 - 1
9-140094379-G-T c.785C>A p.P262H Missense 1/4 - 1
9-140094374-TG-T c.789del p.S264Afs*186 Frameshift 1/4 - 1
9-140094380-G-A c.784C>T p.P262S Missense 1/4 - 1
9-140094381-C-G c.783G>C p.P261= Synonymous 1/4 - 1
9-140094382-G-A c.782C>T p.P261L Missense 1/4 - 2
9-140094383-G-A c.781C>T p.P261S Missense 1/4 - 1
9-140094385-T-C c.779A>G p.H260R Missense 1/4 - 1
9-140094385-T-G c.779A>C p.H260P Missense 1/4 - 3
9-140094388-A-G c.776T>C p.L259P Missense 1/4 - 7
9-140094388-A-T c.776T>A p.L259H Missense 1/4 - 1
9-140094394-G-A c.770C>T p.P257L Missense 1/4 - 2
9-140094395-G-A c.769C>T p.P257S Missense 1/4 - 1
9-140094397-T-C c.767A>G p.D256G Missense 1/4 - 1
9-140094398-C-T c.766G>A p.D256N Missense 1/4 - 2
9-140094402-C-CGG c.761_762insCC p.G255Rfs*196 Frameshift 1/4 - 1
9-140094403-G-A c.761C>T p.S254L Missense 1/4 - 2
9-140094409-A-G c.755T>C p.V252A Missense 1/4 - 1
9-140094411-C-G c.753G>C p.K251N Missense 1/4 - 1
9-140094424-T-C c.740A>G p.Q247R Missense 1/4 - 1
9-140094433-C-A c.731G>T p.G244V Missense 1/4 - 1
9-140094439-G-A c.725C>T p.P242L Missense 1/4 - 1
9-140094441-G-A c.723C>T p.S241= Synonymous 1/4 - 2
9-140094441-G-C c.723C>G p.S241= Synonymous 1/4 - 1
9-140094441-G-T c.723C>A p.S241= Synonymous 1/4 - 1
9-140094438-CG-C c.725del p.P242Rfs*208 Frameshift 1/4 - 1
9-140094445-C-G c.719G>C p.G240A Missense 1/4 - 1
9-140094455-G-A c.709C>T p.R237C Missense 1/4 - 1
9-140094470-C-G c.694G>C p.A232P Missense 1/4 - 1
9-140094470-C-T c.694G>A p.A232T Missense 1/4 - 1
9-140094473-G-A c.691C>T p.R231W Missense 1/4 - 1
9-140094475-G-A c.689C>T p.P230L Missense 1/4 - 1
9-140094476-G-A c.688C>T p.P230S Missense 1/4 - 1
9-140094484-G-A c.680C>T p.A227V Missense 1/4 - 1
9-140094485-C-G c.679G>C p.A227P Missense 1/4 - 1
9-140094490-T-C c.674A>G p.H225R Missense 1/4 - 1
9-140094490-T-G c.674A>C p.H225P Missense 1/4 - 1
9-140094491-G-A c.673C>T p.H225Y Missense 1/4 - 1
9-140094494-C-T c.670G>A p.G224R Missense 1/4 - 1
9-140094496-T-C c.668A>G p.N223S Missense 1/4 - 1
9-140094498-G-A c.666C>T p.S222= Synonymous 1/4 - 2
9-140094498-G-C c.666C>G p.S222= Synonymous 1/4 - 1
9-140094498-G-T c.666C>A p.S222= Synonymous 1/4 - 1
9-140094506-G-A c.658C>T p.L220= Synonymous 1/4 - 1
9-140094507-GC-TT c.656_657delinsAA p.R219Q Missense 1/4 - 1
9-140094508-C-T c.656G>A p.R219H Missense 1/4 - 1
9-140094509-G-T c.655C>A p.R219S Missense 1/4 - 4
9-140094512-C-A c.652G>T p.A218S Missense 1/4 - 1
9-140094515-C-G c.649G>C p.G217R Missense 1/4 - 1
9-140094513-GC-G c.650del p.G217Afs*233 Frameshift 1/4 - 1
9-140094517-G-C c.647C>G p.A216G Missense 1/4 - 1
9-140094521-C-A c.643G>T p.G215C Missense 1/4 - 1
9-140094522-G-T c.642C>A p.R214= Synonymous 1/4 - 1
9-140094524-G-A c.640C>T p.R214C Missense 1/4 - 1
9-140094526-T-C c.638A>G p.H213R Missense 1/4 - 2
9-140094532-C-A c.632G>T p.G211V Missense 1/4 - 1
9-140094533-C-G c.631G>C p.G211R Missense 1/4 - 1
9-140094535-C-T c.629G>A p.R210Q Missense 1/4 - 1
9-140094536-G-A c.628C>T p.R210W Missense 1/4 - 2
9-140094538-G-C c.626C>G p.P209R Missense 1/4 - 1
9-140094539-G-A c.625C>T p.P209S Missense 1/4 - 1
9-140094541-T-C c.623A>G p.H208R Missense 1/4 - 1
9-140094543-G-A c.621C>T p.V207= Synonymous 1/4 - 1
9-140094543-G-C c.621C>G p.V207= Synonymous 1/4 - 1
9-140094543-G-T c.621C>A p.V207= Synonymous 1/4 - 1
9-140094547-G-A c.617C>T p.T206I Missense 1/4 - 1
9-140094562-C-G c.602G>C p.G201A Missense 1/4 - 1
9-140094563-C-T c.601G>A p.G201S Missense 1/4 - 1
9-140094564-GG-CA c.599_600delinsTG p.T200M Missense 1/4 - 1
9-140094576-G-GGAAAGAGTGT c.587_588insACACTCTTTC p.F196Lfs*37 Frameshift 1/4 - 1
9-140094580-T-C c.584A>G p.D195G Missense 1/4 - 1
9-140094585-G-A c.579C>T p.R193= Synonymous 1/4 - 1
9-140094586-C-T c.578G>A p.R193H Missense 1/4 - 1
9-140094587-G-T c.577C>A p.R193S Missense 1/4 - 1
9-140094589-C-A c.575G>T p.R192L Missense 1/4 - 1
9-140094592-G-T c.572C>A p.A191D Missense 1/4 - 1
9-140094593-C-T c.571G>A p.A191T Missense 1/4 - 1
9-140094596-C-T c.568G>A p.G190R Missense 1/4 - 1
9-140094598-G-C c.566C>G p.P189R Missense 1/4 - 1
9-140094601-C-A c.563G>T p.S188I Missense 1/4 - 1
9-140094601-CT-GC c.562_563delinsGC p.S188A Missense 1/4 - 1
9-140094605-C-A c.559G>T p.A187S Missense 1/4 - 19
9-140094610-C-T c.554G>A p.G185D Missense 1/4 - 1
9-140094631-G-A c.533C>T p.A178V Missense 1/4 - 1
9-140094632-C-G c.532G>C p.A178P Missense 1/4 - 1
9-140094633-G-A c.531C>T p.P177= Synonymous 1/4 - 1
9-140094633-G-C c.531C>G p.P177= Synonymous 1/4 - 1
9-140094633-G-T c.531C>A p.P177= Synonymous 1/4 - 1
9-140094635-G-T c.529C>A p.P177T Missense 1/4 - 1
9-140094636-C-A c.528G>T p.P176= Synonymous 1/4 - 1
9-140094636-C-G c.528G>C p.P176= Synonymous 1/4 - 1
9-140094636-C-T c.528G>A p.P176= Synonymous 1/4 - 1
9-140094638-G-A c.526C>T p.P176S Missense 1/4 - 1
9-140094640-C-T c.524G>A p.S175N Missense 1/4 - 1
9-140094646-G-A c.518C>T p.A173V Missense 1/4 - 1
9-140094659-G-A c.505C>T p.P169S Missense 1/4 - 1
9-140094659-G-C c.505C>G p.P169A Missense 1/4 - 1
9-140094660-C-T c.504G>A p.R168= Synonymous 1/4 - 1
9-140094662-G-A c.502C>T p.R168W Missense 1/4 - 1
9-140094673-G-T c.491C>A p.P164H Missense 1/4 - 1
9-140094676-G-A c.488C>T p.P163L Missense 1/4 - 1
9-140094680-G-A c.484C>T p.P162S Missense 1/4 - 1
9-140094680-G-T c.484C>A p.P162T Missense 1/4 - 1
9-140094682-G-C c.482C>G p.P161R Missense 1/4 - 1
9-140094692-G-T c.472C>A p.P158T Missense 1/4 - 1
9-140094694-G-C c.470C>G p.P157R Missense 1/4 - 1
9-140094695-G-T c.469C>A p.P157T Missense 1/4 - 1
9-140094732-G-A c.432C>T p.A144= Synonymous 1/4 - 1
9-140094732-G-C c.432C>G p.A144= Synonymous 1/4 - 1
9-140094732-G-T c.432C>A p.A144= Synonymous 1/4 - 1
9-140094734-C-G c.430G>C p.A144P Missense 1/4 - 1
9-140094747-CCT-ACA c.415_417delinsTGT p.R139C Missense 1/4 - 1
9-140094748-CT-TG c.415_416delinsCA p.R139Q Missense 1/4 - 1
9-140094752-C-T c.412G>A p.E138K Missense 1/4 - 1
9-140094754-A-T c.410T>A p.L137Q Missense 1/4 - 1
9-140094759-GCG-CCA c.403_405delinsTGG p.R135W Missense 1/4 - 1
9-140094775-G-A c.389C>T p.P130L Missense 1/4 - 1
9-140094786-G-A c.378C>T p.Y126= Synonymous 1/4 - 1
9-140094789-C-A c.375G>T p.V125= Synonymous 1/4 - 1
9-140094789-C-G c.375G>C p.V125= Synonymous 1/4 - 1
9-140094789-C-T c.375G>A p.V125= Synonymous 1/4 - 1
9-140094800-C-G c.364G>C p.E122Q Missense 1/4 - 2
9-140094802-G-A c.362C>T p.A121V Missense 1/4 - 1
9-140094805-G-A c.359C>T p.A120V Missense 1/4 - 1
9-140094820-G-C c.344C>G p.A115G Missense 1/4 - 1
9-140094828-G-A c.336C>T p.A112= Synonymous 1/4 - 1
9-140094829-G-A c.335C>T p.A112V Missense 1/4 - 2
9-140094830-C-A c.334G>T p.A112S Missense 1/4 - 1
9-140094832-G-A c.332C>T p.P111L Missense 1/4 - 1
9-140094834-C-T c.330G>A p.P110= Synonymous 1/4 - 1
9-140094835-G-A c.329C>T p.P110L Missense 1/4 - 1
9-140094838-G-A c.326C>T p.A109V Missense 1/4 - 1
9-140094839-C-A c.325G>T p.A109S Missense 1/4 - 1
9-140094844-G-A c.320C>T p.P107L Missense 1/4 - 1
9-140094846-G-T c.318C>A p.F106L Missense 1/4 - 2
9-140094850-C-T c.314G>A p.G105D Missense 1/4 - 1
9-140094854-G-A c.310C>T p.P104S Missense 1/4 - 3
9-140094857-C-T c.307G>A p.V103M Missense 1/4 - 1
9-140094863-C-T c.301G>A p.E101K Missense 1/4 - 1
9-140094864-G-T c.300C>A p.I100= Synonymous 1/4 - 1
9-140094867-G-A c.297C>T p.I99= Synonymous 1/4 - 1
9-140094880-T-A c.284A>T p.D95V Missense 1/4 - 1
9-140094881-C-T c.283G>A p.D95N Missense 1/4 - 1
9-140094884-C-T c.280G>A p.A94T Missense 1/4 - 2
9-140094886-C-G c.278G>C p.R93P Missense 1/4 - 1
9-140094886-C-T c.278G>A p.R93H Missense 1/4 - 1
9-140094890-G-A c.274C>T p.L92F Missense 1/4 - 1
9-140094896-G-A c.268C>T p.R90C Missense 1/4 - 2
9-140094896-G-C c.268C>G p.R90G Missense 1/4 - 1
9-140094898-A-C c.266T>G p.V89G Missense 1/4 - 1
9-140094900-GCC-CTT c.262_264delinsAAG p.G88K Missense 1/4 - 2
9-140094904-G-T c.260C>A p.P87H Missense 1/4 - 1
9-140094905-GGC-G c.258_259del p.P87Wfs*142 Frameshift 1/4 - 1
9-140094908-C-T c.256G>A p.V86M Missense 1/4 - 1
9-140094909-CG-C c.255del p.V86Cfs*364 Frameshift 1/4 - 1
9-140094914-G-A c.250C>T p.R84C Missense 1/4 - 1
9-140094916-T-C c.248A>G p.Y83C Missense 1/4 - 1
9-140094919-C-T c.245G>A p.R82Q Missense 1/4 - 1
9-140094921-C-G c.243G>C p.E81D Missense 1/4 - 1
9-140094922-T-C c.242A>G p.E81G Missense 1/4 - 1
9-140094933-CGC-ACA c.229_231delinsTGT p.A77C Missense 1/4 - 1
9-140094934-G-T c.230C>A p.A77E Missense 1/4 - 1
9-140094935-C-T c.229G>A p.A77T Missense 1/4 - 6
9-140094936-C-T c.228G>A p.G76= Synonymous 1/4 - 1
9-140094938-C-G c.226G>C p.G76R Missense 1/4 - 1
9-140094940-G-A c.224C>T p.A75V Missense 1/4 - 1
9-140094928-AGCCGCGCCCCC-A c.225_235del p.G76Afs*150 Frameshift 1/4 - 2
9-140094953-C-A c.211G>T p.G71C Missense 1/4 - 1
9-140094954-G-A c.210C>T p.R70= Synonymous 1/4 - 1
9-140094954-G-C c.210C>G p.R70= Synonymous 1/4 - 1
9-140094954-GC-TT c.209_210delinsAA p.R70Q Missense 1/4 - 1
9-140094954-G-T c.210C>A p.R70= Synonymous 1/4 - 1
9-140094956-G-C c.208C>G p.R70G Missense 1/4 - 1
9-140094958-C-T c.206G>A p.R69Q Missense 1/4 - 3
9-140094962-G-A c.202C>T p.R68W Missense 1/4 - 1
9-140094962-G-C c.202C>G p.R68G Missense 1/4 - 1
9-140094965-C-G c.199G>C p.E67Q Missense 1/4 - 2
9-140094975-CAG-AAA c.187_189delinsTTT p.L63F Missense 1/4 - 1
9-140094977-G-C c.187C>G p.L63V Missense 1/4 - 1
9-140094980-T-C c.184A>G p.M62V Missense 1/4 - 1
9-140094986-G-C c.178C>G p.P60A Missense 1/4 - 1
9-140094988-T-C c.176A>G p.N59S Missense 1/4 - 2
9-140094990-C-A c.174G>T p.E58D Missense 1/4 - 1
9-140094990-C-G c.174G>C p.E58D Missense 1/4 - 3
9-140094991-T-C c.173A>G p.E58G Missense 1/4 - 1
9-140094991-T-G c.173A>C p.E58A Missense 1/4 - 1
9-140094993-G-A c.171C>T p.R57= Synonymous 1/4 - 1
9-140094993-G-C c.171C>G p.R57= Synonymous 1/4 - 1
9-140094998-G-C c.166C>G p.L56V Missense 1/4 - 1
9-140095000-G-A c.164C>T p.P55L Missense 1/4 - 1
9-140095001-G-A c.163C>T p.P55S Missense 1/4 - 1
9-140095001-G-T c.163C>A p.P55T Missense 1/4 - 1
9-140095003-C-A c.161G>T p.G54V Missense 1/4 - 1
9-140095007-G-A c.157C>T p.L53= Synonymous 1/4 - 1
9-140095009-C-A c.155G>T p.S52I Missense 1/4 - 1
9-140095013-C-A c.151G>T p.E51* Nonsense 1/4 - 1
9-140095046-C-G c.118G>C p.G40R Missense 1/4 - 1
9-140095046-C-T c.118G>A p.G40R Missense 1/4 - 1
9-140095048-G-A c.116C>T p.P39L Missense 1/4 - 3
9-140095054-CG-C c.110del p.A37Gfs*413 Frameshift 1/4 - 1
9-140095057-C-A c.107G>T p.G36V Missense 1/4 - 1
9-140095060-C-T c.104G>A p.G35E Missense 1/4 - 3
9-140095056-GC-G c.107del p.G36Afs*414 Frameshift 1/4 - 1
9-140095063-C-T c.101G>A p.G34D Missense 1/4 - 1
9-140095072-GC-AG c.91_92delinsCT p.A31L Missense 1/4 - 1
9-140095073-C-A c.91G>T p.A31S Missense 1/4 - 1
9-140095073-C-T c.91G>A p.A31T Missense 1/4 - 1
9-140095081-G-C c.83C>G p.A28G Missense 1/4 - 1
9-140095081-GC-CA c.82_83delinsTG p.A28C Missense 1/4 - 1
9-140095082-C-T c.82G>A p.A28T Missense 1/4 - 1
9-140095084-C-G c.80G>C p.R27P Missense 1/4 - 1
9-140095085-G-A c.79C>T p.R27W Missense 1/4 - 1
9-140095090-C-T c.74G>A p.R25Q Missense 1/4 - 1
9-140095097-G-A c.67C>T p.L23= Synonymous 1/4 - 1
9-140095100-T-A c.64A>T p.I22F Missense 1/4 - 1
9-140095107-C-A c.57G>T p.K19N Missense 1/4 - 1
9-140095109-T-C c.55A>G p.K19E Missense 1/4 - 1
9-140095109-TCCAAGCGGGCA-T c.44_54del p.V15Efs*3 Frameshift 1/4 - 5
9-140095113-AGC-TTA c.49_51delinsTAA p.A17* Nonsense 1/4 - 2
9-140095113-AGC-TTG c.49_51delinsCAA p.A17Q Missense 1/4 - 1
9-140095118-G-A c.46C>T p.P16S Missense 1/4 - 1
9-140095118-G-C c.46C>G p.P16A Missense 1/4 - 1
9-140095121-C-A c.43G>T p.V15L Missense 1/4 - 1
9-140095123-G-A c.41C>T p.A14V Missense 1/4 - 1
9-140095123-G-C c.41C>G p.A14G Missense 1/4 - 1
9-140095123-GC-TT c.40_41delinsAA p.A14K Missense 1/4 - 1
9-140095125-A-T c.39T>A p.A13= Synonymous 1/4 - 1
9-140095128-GCG-TCA c.34_36delinsTGA p.R12* Nonsense 1/4 - 1
9-140095133-G-A c.31C>T p.P11S Missense 1/4 - 2
9-140095136-C-A c.28G>T p.G10W Missense 1/4 - 1
9-140095138-G-A c.26C>T p.S9L Missense 1/4 - 1
9-140095142-C-T c.22G>A p.G8S Missense 1/4 - 1
9-140095145-G-A c.19C>T p.P7S Missense 1/4 - 1
9-140095150-C-A c.14G>T p.G5V Missense 1/4 - 1
9-140095150-C-T c.14G>A p.G5E Missense 1/4 - 1
9-140095153-A-G c.11T>C p.L4P Missense 1/4 - 1
9-140095154-G-C c.10C>G p.L4V Missense 1/4 - 1
9-140095154-G-T c.10C>A p.L4M Missense 1/4 - 1
9-140095156-G-A c.8C>T p.A3V Missense 1/4 - 1
9-140095157-C-G c.7G>C p.A3P Missense 1/4 - 1
9-140095158-G-A c.6C>T p.A2= Synonymous 1/4 - 1
9-140095160-C-T c.4G>A p.A2T Missense 1/4 - 1
9-140095163-T-C c.1A>G p.M1? Missense 1/4 - 1