ALOX12B

ALOX12B arachidonate 12-lipoxygenase, 12R type

Annotation transcript: NM_001139.3

961 unique variant annotations were identified in 401 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
17-7976023-G-A c.*66C>T - 3-UTRSNV 15/15 - 2
17-7976084-C-T c.*5G>A - 3-UTRSNV 15/15 - 1
17-7976095-A-C c.2100T>G p.S700= Synonymous 15/15 - 1
17-7976095-A-G c.2100T>C p.S700= Synonymous 15/15 - 1
17-7976095-A-T c.2100T>A p.S700= Synonymous 15/15 - 1
17-7976098-A-G c.2097T>C p.I699= Synonymous 15/15 - 1
17-7976098-A-T c.2097T>A p.I699= Synonymous 15/15 - 1
17-7976101-G-C c.2094C>G p.S698R Missense 15/15 - 1
17-7976101-G-T c.2094C>A p.S698R Missense 15/15 - 2
17-7976103-T-G c.2092A>C p.S698R Missense 15/15 - 1
17-7976104-G-C c.2091C>G p.N697K Missense 15/15 - 2
17-7976104-G-T c.2091C>A p.N697K Missense 15/15 - 2
17-7976109-C-T c.2086G>A p.E696K Missense 15/15 - 1
17-7976113-C-A c.2082G>T p.L694= Synonymous 15/15 - 3
17-7976113-C-G c.2082G>C p.L694= Synonymous 15/15 - 1
17-7976113-C-T c.2082G>A p.L694= Synonymous 15/15 - 1
17-7976115-G-A c.2080C>T p.L694= Synonymous 15/15 - 1
17-7976121-G-A c.2074C>T p.P692S Missense 15/15 - 1
17-7976123-T-A c.2072A>T p.D691V Missense 15/15 - 1
17-7976124-C-T c.2071G>A p.D691N Missense 15/15 - 3
17-7976129-T-C c.2066A>G p.Y689C Missense 15/15 - 2
17-7976131-G-C c.2064C>G p.Y688* Nonsense 15/15 - 1
17-7976133-A-G c.2062T>C p.Y688H Missense 15/15 - 1
17-7976134-G-C c.2061C>G p.Y687* Nonsense 15/15 - 1
17-7976134-G-T c.2061C>A p.Y687* Nonsense 15/15 - 1
17-7976127-GGTA-G c.2065_2067del p.Y689del InFrameDeletion 15/15 - 1
17-7976135-T-C c.2060A>G p.Y687C Missense 15/15 - 3
17-7976136-A-T c.2059T>A p.Y687N Missense 15/15 - 1
17-7976142-T-C c.2053A>G p.I685V Missense 15/15 - 1
17-7976147-A-C c.2048T>G p.L683R Missense 15/15 - 2
17-7976150-C-T c.2045G>A p.C682Y Missense 15/15 - 1
17-7976154-T-A c.2041A>T p.K681* Nonsense 15/15 - 1
17-7976156-T-C c.2039A>G p.N680S Missense 15/15 - 3
17-7976157-T-TG c.2037dup p.N680Qfs*17 Frameshift 15/15 - 1
17-7976159-C-A c.2036G>T p.R679L Missense 15/15 - 2
17-7976159-C-T c.2036G>A p.R679H Missense 15/15 - 3
17-7976160-G-T c.2035C>A p.R679S Missense 15/15 - 1
17-7976165-C-T c.2030G>A p.R677H Missense 15/15 - 1
17-7976166-G-A c.2029C>T p.R677C Missense 15/15 - 2
17-7976167-G-A c.2028C>T p.I676= Synonymous 15/15 - 2
17-7976167-G-T c.2028C>A p.I676= Synonymous 15/15 - 1
17-7976169-T-C c.2026A>G p.I676V Missense 15/15 - 5
17-7976173-G-A c.2022C>T p.H674= Synonymous 15/15 - 1
17-7976174-T-C c.2021A>G p.H674R Missense 15/15 - 1
17-7976179-G-A c.2016C>T p.I672= Synonymous 15/15 - 1
17-7976181-T-C c.2014A>G p.I672V Missense 15/15 - 1
17-7976183-CT-C c.2012del p.Q671Rfs*24 Frameshift 15/15 - 1
17-7976186-T-C c.2009A>G p.N670S Missense 15/15 - 1
17-7976186-T-G c.2009A>C p.N670T Missense 15/15 - 2
17-7976187-T-A c.2008A>T p.N670Y Missense 15/15 - 2
17-7976187-T-C c.2008A>G p.N670D Missense 15/15 - 1
17-7976192-C-A c.2003G>T p.R668L Missense 15/15 - 1
17-7976192-C-T c.2003G>A p.R668H Missense 15/15 - 1
17-7976193-G-C c.2002C>G p.R668G Missense 15/15 - 1
17-7976194-C-A c.2001G>T p.Q667H Missense 15/15 - 4
17-7976194-C-G c.2001G>C p.Q667H Missense 15/15 - 3
17-7976195-T-G c.2000A>C p.Q667P Missense 15/15 - 1
17-7976205-C-G c.1990G>C p.A664P Missense 15/15 - 1
17-7976206-C-A c.1989G>T p.E663D Missense 15/15 - 1
17-7976206-C-G c.1989G>C p.E663D Missense 15/15 - 1
17-7976208-C-A c.1987G>T p.E663* Nonsense 15/15 - 1
17-7976210-A-G c.1985T>C p.I662T Missense 15/15 - 1
17-7976216-C-T c.1979G>A p.R660K Missense 15/15 - 1
17-7976217-TC-T c.1977del p.R660Gfs*3 Frameshift 15/15 - 1
17-7976220-G-A c.1975C>T p.R659W Missense 15/15 - 1
17-7976220-G-C c.1975C>G p.R659G Missense 15/15 - 1
17-7976221-C-A c.1974G>T p.P658= Synonymous 15/15 - 2
17-7976221-C-G c.1974G>C p.P658= Synonymous 15/15 - 2
17-7976221-C-T c.1974G>A p.P658= Synonymous 15/15 - 3
17-7976222-G-A c.1973C>T p.P658L Missense 15/15 - 3
17-7976222-G-T c.1973C>A p.P658Q Missense 15/15 - 1
17-7976231-T-C c.1964A>G p.E655G Missense 15/15 - 1
17-7976232-C-T c.1963G>A p.E655K Missense 15/15 - 1
17-7976233-C-A c.1962G>T p.V654= Synonymous 15/15 - 1
17-7976235-C-T c.1960G>A p.V654M Missense 15/15 - 4
17-7976236-G-A c.1959C>T p.F653= Synonymous 15/15 - 2
17-7976236-G-T c.1959C>A p.F653L Missense 15/15 - 3
17-7976240-T-G c.1955A>C p.H652P Missense 15/15 - 1
17-7976241-G-T c.1954C>A p.H652N Missense 15/15 - 1
17-7976243-A-G c.1952T>C p.I651T Missense 15/15 - 1
17-7976244-T-C c.1951A>G p.I651V Missense 15/15 - 1
17-7976247-C-A c.1948G>T p.D650Y Missense 15/15 - 1
17-7976248-C-A c.1947G>T p.P649= Synonymous 15/15 - 2
17-7976248-CCG-C c.1946_1947del p.P649Rfs*47 Frameshift 15/15 - 2
17-7976248-C-G c.1947G>C p.P649= Synonymous 15/15 - 2
17-7976248-C-T c.1947G>A p.P649= Synonymous 15/15 - 3
17-7976249-G-A c.1946C>T p.P649L Missense 15/15 - 1
17-7976248-CG-C c.1946del p.P649Rfs*14 Frameshift 15/15 - 1
17-7976251-G-A c.1944C>T p.F648= Synonymous 15/15 - 1
17-7976256-G-A c.1939C>T p.H647Y Missense 15/15 - 1
17-7976259-C-G c.1936G>C p.G646R Missense 15/15 - 2
17-7976259-C-T c.1936G>A p.G646R Missense 15/15 - 3
17-7976257-T-TC c.1937dup p.H647Tfs*50 Frameshift 15/15 - 1
17-7976266-C-G c.1929G>C p.R643= Synonymous 15/15 - 3
17-7976266-C-T c.1929G>A p.R643= Synonymous 15/15 - 5
17-7976267-C-T c.1928G>A p.R643Q Missense 15/15 - 2
17-7976266-C-A c.1929G>T p.R643= Synonymous 15/15 - 2
17-7976268-G-C c.1927C>G p.R643G Missense 15/15 - 1
17-7976268-G-T c.1927C>A p.R643= Synonymous 15/15 - 2
17-7976447-C-A c.1926+19G>T - IntronicSNV - 14/14 1
17-7976464-A-C c.1926+2T>G - IntronicSNV - 14/14 1
17-7976464-A-G c.1926+2T>C - IntronicSNV - 14/14 1
17-7976467-C-T c.1925G>A p.R642K Missense 14/15 - 1
17-7976469-G-C c.1923C>G p.D641E Missense 14/15 - 1
17-7976469-G-T c.1923C>A p.D641E Missense 14/15 - 1
17-7976471-C-T c.1921G>A p.D641N Missense 14/15 - 1
17-7976472-G-A c.1920C>T p.D640= Synonymous 14/15 - 1
17-7976473-T-A c.1919A>T p.D640V Missense 14/15 - 1
17-7976474-TC-T c.1918del p.D640Tfs*23 Frameshift 14/15 - 1
17-7976477-G-A c.1915C>T p.P639S Missense 14/15 - 1
17-7976480-C-G c.1912G>C p.E638Q Missense 14/15 - 1
17-7976482-C-G c.1910G>C p.R637P Missense 14/15 - 1
17-7976483-G-A c.1909C>T p.R637* Nonsense 14/15 - 1
17-7976505-C-A c.1887G>T p.L629= Synonymous 14/15 - 1
17-7976505-C-G c.1887G>C p.L629= Synonymous 14/15 - 1
17-7976505-C-T c.1887G>A p.L629= Synonymous 14/15 - 1
17-7976507-G-A c.1885C>T p.L629= Synonymous 14/15 - 2
17-7976508-C-A c.1884G>T p.T628= Synonymous 14/15 - 1
17-7976509-G-A c.1883C>T p.T628M Missense 14/15 - 3
17-7976514-G-A c.1878C>T p.C626= Synonymous 14/15 - 1
17-7976515-C-T c.1877G>A p.C626Y Missense 14/15 - 1
17-7976517-C-A c.1875G>T p.T625= Synonymous 14/15 - 2
17-7976517-C-G c.1875G>C p.T625= Synonymous 14/15 - 2
17-7976517-C-T c.1875G>A p.T625= Synonymous 14/15 - 3
17-7976518-G-A c.1874C>T p.T625M Missense 14/15 - 1
17-7976521-G-A c.1871C>T p.T624I Missense 14/15 - 1
17-7976524-T-C c.1868A>G p.K623R Missense 14/15 - 1
17-7976526-C-T c.1866G>A p.V622= Synonymous 14/15 - 1
17-7976531-C-A c.1861G>T p.D621Y Missense 14/15 - 1
17-7976533-G-A c.1859C>T p.P620L Missense 14/15 - 1
17-7976533-G-T c.1859C>A p.P620Q Missense 14/15 - 3
17-7976534-G-A c.1858C>T p.P620S Missense 14/15 - 1
17-7976539-G-A c.1853C>T p.T618M Missense 14/15 - 1
17-7976542-T-A c.1850A>T p.D617V Missense 14/15 - 1
17-7976545-A-G c.1847T>C p.M616T Missense 14/15 - 1
17-7976560-G-C c.1832C>G p.T611S Missense 14/15 - 1
17-7976561-T-A c.1831A>T p.T611S Missense 14/15 - 1
17-7976561-T-C c.1831A>G p.T611A Missense 14/15 - 1
17-7976563-G-A c.1829C>T p.T610I Missense 14/15 - 1
17-7976565-C-A c.1827G>T p.L609= Synonymous 14/15 - 1
17-7976565-C-G c.1827G>C p.L609= Synonymous 14/15 - 1
17-7976565-C-T c.1827G>A p.L609= Synonymous 14/15 - 1
17-7976567-G-A c.1825C>T p.L609= Synonymous 14/15 - 1
17-7976569-C-T c.1823G>A p.G608E Missense 14/15 - 1
17-7976571-C-A c.1821G>T p.K607N Missense 14/15 - 1
17-7976571-C-G c.1821G>C p.K607N Missense 14/15 - 2
17-7976575-G-A c.1817C>T p.T606I Missense 14/15 - 4
17-7976578-T-A c.1814A>T p.Q605L Missense 14/15 - 1
17-7976583-C-A c.1809G>T p.P603= Synonymous 14/15 - 1
17-7976583-C-G c.1809G>C p.P603= Synonymous 14/15 - 1
17-7976583-C-T c.1809G>A p.P603= Synonymous 14/15 - 1
17-7976584-G-A c.1808C>T p.P603L Missense 14/15 - 2
17-7976585-G-A c.1807C>T p.P603S Missense 14/15 - 1
17-7976593-C-T c.1799G>A p.R600Q Missense 14/15 - 3
17-7976594-G-A c.1798C>T p.R600W Missense 14/15 - 1
17-7976595-C-A c.1797G>T p.M599I Missense 14/15 - 1
17-7976596-A-G c.1796T>C p.M599T Missense 14/15 - 1
17-7976599-G-A c.1793C>T p.S598F Missense 14/15 - 3
17-7976601-C-A c.1791G>T p.A597= Synonymous 14/15 - 1
17-7976601-C-G c.1791G>C p.A597= Synonymous 14/15 - 1
17-7976601-C-T c.1791G>A p.A597= Synonymous 14/15 - 1
17-7976602-G-T c.1790C>A p.A597E Missense 14/15 - 9
17-7976603-C-T c.1789G>A p.A597T Missense 14/15 - 1
17-7976605-G-A c.1787C>T p.P596L Missense 14/15 - 1
17-7976605-G-T c.1787C>A p.P596Q Missense 14/15 - 2
17-7976611-T-C c.1781A>G p.N594S Missense 14/15 - 1
17-7976624-C-A c.1768G>T p.A590S Missense 14/15 - 1
17-7976624-C-G c.1768G>C p.A590P Missense 14/15 - 1
17-7976625-G-A c.1767C>T p.T589= Synonymous 14/15 - 1
17-7976625-G-C c.1767C>G p.T589= Synonymous 14/15 - 1
17-7976625-G-T c.1767C>A p.T589= Synonymous 14/15 - 1
17-7976626-G-A c.1766C>T p.T589I Missense 14/15 - 2
17-7976626-GT-TC c.1765_1766delinsGA p.T589D Missense 14/15 - 1
17-7976632-T-C c.1760A>G p.E587G Missense 14/15 - 1
17-7976835-G-T c.1755+140C>A - IntronicSNV - 13/14 1
17-7976917-A-T c.1755+58T>A - IntronicSNV - 13/14 3
17-7976982-G-T c.1748C>A p.T583K Missense 13/15 - 3
17-7976985-T-A c.1745A>T p.N582I Missense 13/15 - 1
17-7976987-G-A c.1743C>T p.V581= Synonymous 13/15 - 1
17-7976987-GAC-CAT c.1741_1743delinsATG p.V581M Missense 13/15 - 1
17-7976987-G-C c.1743C>G p.V581= Synonymous 13/15 - 1
17-7976987-G-T c.1743C>A p.V581= Synonymous 13/15 - 1
17-7976988-A-C c.1742T>G p.V581G Missense 13/15 - 1
17-7976992-C-T c.1738G>A p.A580T Missense 13/15 - 1
17-7976993-A-C c.1737T>G p.A579= Synonymous 13/15 - 1
17-7976993-A-G c.1737T>C p.A579= Synonymous 13/15 - 2
17-7976993-A-T c.1737T>A p.A579= Synonymous 13/15 - 1
17-7976996-G-C c.1734C>G p.H578Q Missense 13/15 - 2
17-7976996-G-T c.1734C>A p.H578Q Missense 13/15 - 5
17-7976998-G-A c.1732C>T p.H578Y Missense 13/15 - 1
17-7976996-GTGCT-G c.1730_1733del p.K577Tfs*32 Frameshift 13/15 - 1
17-7977001-T-C c.1729A>G p.K577E Missense 13/15 - 1
17-7977003-G-A c.1727C>T p.A576V Missense 13/15 - 1
17-7977004-C-T c.1726G>A p.A576T Missense 13/15 - 1
17-7977019-T-C c.1711A>G p.I571V Missense 13/15 - 1
17-7977022-C-T c.1708G>A p.V570I Missense 13/15 - 1
17-7977023-CT-C c.1707del p.I569Mfs*41 Frameshift 13/15 - 1
17-7977026-AG-CT c.1703_1704inv p.T568K Missense 13/15 - 1
17-7977027-G-T c.1703C>A p.T568N Missense 13/15 - 1
17-7977033-T-C c.1697A>G p.Y566C Missense 13/15 - 2
17-7977036-C-G c.1694G>C p.R565P Missense 13/15 - 1
17-7977036-C-T c.1694G>A p.R565Q Missense 13/15 - 3
17-7977035-T-A c.1695A>T p.R565= Synonymous 13/15 - 1
17-7977035-T-C c.1695A>G p.R565= Synonymous 13/15 - 2
17-7977035-T-G c.1695A>C p.R565= Synonymous 13/15 - 1
17-7977037-G-T c.1693C>A p.R565= Synonymous 13/15 - 1
17-7977040-T-C c.1690A>G p.I564V Missense 13/15 - 1
17-7977042-A-G c.1688T>C p.L563P Missense 13/15 - 1
17-7977048-G-A c.1682C>T p.P561L Missense 13/15 - 1
17-7977050-CAC-GAT c.1678_1680delinsATC p.V560I Missense 13/15 - 1
17-7977052-C-A c.1678G>T p.V560L Missense 13/15 - 1
17-7977048-GGCACGGTTCGCAA-G c.1669_1681del p.R558Sfs*2 Frameshift 13/15 - 1
17-7977054-G-A c.1676C>T p.T559I Missense 13/15 - 2
17-7977055-T-C c.1675A>G p.T559A Missense 13/15 - 1
17-7977057-C-G c.1673G>C p.R558P Missense 13/15 - 2
17-7977058-G-A c.1672C>T p.R558* Nonsense 13/15 - 1
17-7977063-C-A c.1667G>T p.C556F Missense 13/15 - 1
17-7977066-CT-TG c.1663_1664delinsCA p.R555Q Missense 13/15 - 2
17-7977069-G-A c.1661C>T p.P554L Missense 13/15 - 1
17-7977089-G-A c.1655-14C>T - IntronicSNV - 12/14 1
17-7977105-A-G c.1655-30T>C - IntronicSNV - 12/14 9
17-7977127-C-A c.1655-52G>T - IntronicSNV - 12/14 1
17-7977368-C-T c.1655-293G>A - IntronicSNV - 12/14 1
17-7978751-G-A c.1654+162C>T - IntronicSNV - 12/14 1
17-7978819-T-A c.1654+94A>T - IntronicSNV - 12/14 1
17-7978858-G-A c.1654+55C>T - IntronicSNV - 12/14 1
17-7978910-T-C c.1654+3A>G - IntronicSNV - 12/14 1
17-7978911-A-G c.1654+2T>C - IntronicSNV - 12/14 1
17-7978912-C-A c.1654+1G>T - IntronicSNV - 12/14 3
17-7978912-C-T c.1654+1G>A - IntronicSNV - 12/14 1
17-7978913-C-A c.1654G>T p.G552C Missense 12/15 - 4
17-7978913-C-G c.1654G>C p.G552R Missense 12/15 - 2
17-7978917-G-C c.1650C>G p.S550R Missense 12/15 - 1
17-7978917-G-T c.1650C>A p.S550R Missense 12/15 - 3
17-7978919-T-G c.1648A>C p.S550R Missense 12/15 - 1
17-7978924-C-A c.1643G>T p.R548L Missense 12/15 - 1
17-7978924-CG-TA c.1642_1643delinsTA p.R548* Nonsense 12/15 - 1
17-7978924-C-T c.1643G>A p.R548Q Missense 12/15 - 5
17-7978925-CG-C c.1642del p.R548Gfs*16 Frameshift 12/15 - 1
17-7978925-G-A c.1642C>T p.R548W Missense 12/15 - 14
17-7978927-C-T c.1640G>A p.G547E Missense 12/15 - 2
17-7978928-C-T c.1639G>A p.G547R Missense 12/15 - 1
17-7978930-AG-CA c.1636_1637delinsTG p.L546W Missense 12/15 - 1
17-7978931-G-A c.1636C>T p.L546= Synonymous 12/15 - 1
17-7978933-A-C c.1634T>G p.L545R Missense 12/15 - 1
17-7978937-A-G c.1630T>C p.C544R Missense 12/15 - 2
17-7978940-C-A c.1627G>T p.E543* Nonsense 12/15 - 2
17-7978944-A-G c.1623T>C p.F541= Synonymous 12/15 - 1
17-7978948-A-G c.1619T>C p.I540T Missense 12/15 - 2
17-7978951-T-C c.1616A>G p.E539G Missense 12/15 - 1
17-7978952-C-T c.1615G>A p.E539K Missense 12/15 - 3
17-7978954-T-G c.1613A>C p.Q538P Missense 12/15 - 1
17-7978955-G-A c.1612C>T p.Q538* Nonsense 12/15 - 1
17-7978958-C-T c.1609G>A p.V537M Missense 12/15 - 3
17-7978959-C-T c.1608G>A p.W536* Nonsense 12/15 - 3
17-7978960-C-T c.1607G>A p.W536* Nonsense 12/15 - 4
17-7978966-T-A c.1601A>T p.Q534L Missense 12/15 - 1
17-7978973-C-G c.1594G>C p.E532Q Missense 12/15 - 1
17-7978973-C-T c.1594G>A p.E532K Missense 12/15 - 3
17-7978974-C-A c.1593G>T p.P531= Synonymous 12/15 - 1
17-7978974-C-G c.1593G>C p.P531= Synonymous 12/15 - 1
17-7978974-C-T c.1593G>A p.P531= Synonymous 12/15 - 1
17-7978975-G-A c.1592C>T p.P531L Missense 12/15 - 4
17-7978976-G-A c.1591C>T p.P531S Missense 12/15 - 1
17-7978981-C-T c.1586G>A p.G529D Missense 12/15 - 1
17-7978985-C-T c.1582G>A p.E528K Missense 12/15 - 4
17-7978986-C-T c.1581G>A p.V527= Synonymous 12/15 - 1
17-7978988-C-A c.1579G>T p.V527L Missense 12/15 - 1
17-7978988-C-G c.1579G>C p.V527L Missense 12/15 - 1
17-7978988-C-T c.1579G>A p.V527M Missense 12/15 - 8
17-7978989-G-A c.1578C>T p.A526= Synonymous 12/15 - 3
17-7978989-G-C c.1578C>G p.A526= Synonymous 12/15 - 2
17-7978989-G-T c.1578C>A p.A526= Synonymous 12/15 - 2
17-7978990-G-A c.1577C>T p.A526V Missense 12/15 - 1
17-7978991-C-T c.1576G>A p.A526T Missense 12/15 - 1
17-7978994-C-T c.1573G>A p.A525T Missense 12/15 - 4
17-7978996-T-C c.1571A>G p.D524G Missense 12/15 - 1
17-7978997-C-T c.1570G>A p.D524N Missense 12/15 - 1
17-7978999-C-T c.1568G>A p.S523N Missense 12/15 - 1
17-7979001-C-A c.1566G>T p.P522= Synonymous 12/15 - 2
17-7979001-C-G c.1566G>C p.P522= Synonymous 12/15 - 1
17-7979001-C-T c.1566G>A p.P522= Synonymous 12/15 - 2
17-7979002-G-A c.1565C>T p.P522L Missense 12/15 - 6
17-7979005-T-C c.1562A>G p.Y521C Missense 12/15 - 20
17-7979013-G-A c.1554C>T p.T518= Synonymous 12/15 - 4
17-7979013-G-C c.1554C>G p.T518= Synonymous 12/15 - 2
17-7979013-G-T c.1554C>A p.T518= Synonymous 12/15 - 2
17-7979022-C-A c.1545G>T p.E515D Missense 12/15 - 1
17-7979022-C-G c.1545G>C p.E515D Missense 12/15 - 1
17-7979023-T-C c.1544A>G p.E515G Missense 12/15 - 1
17-7979026-G-A c.1541C>T p.T514M Missense 12/15 - 2
17-7979029-A-C c.1538T>G p.V513G Missense 12/15 - 1
17-7979029-A-G c.1538T>C p.V513A Missense 12/15 - 1
17-7979045-G-A c.1533-11C>T - IntronicSNV - 11/14 1
17-7979045-G-C c.1533-11C>G - IntronicSNV - 11/14 1
17-7979452-T-G c.1532+41A>C - IntronicSNV - 11/14 1
17-7979463-A-C c.1532+30T>G - IntronicSNV - 11/14 7
17-7979463-A-G c.1532+30T>C - IntronicSNV - 11/14 9
17-7979477-G-A c.1532+16C>T - IntronicSNV - 11/14 1
17-7979494-T-A c.1531A>T p.K511* Nonsense 11/15 - 1
17-7979497-C-T c.1528G>A p.E510K Missense 11/15 - 2
17-7979500-G-C c.1525C>G p.L509V Missense 11/15 - 1
17-7979504-A-G c.1521T>C p.N507= Synonymous 11/15 - 3
17-7979508-C-T c.1517G>A p.W506* Nonsense 11/15 - 1
17-7979513-C-A c.1512G>T p.A504= Synonymous 11/15 - 1
17-7979513-C-G c.1512G>C p.A504= Synonymous 11/15 - 1
17-7979513-C-T c.1512G>A p.A504= Synonymous 11/15 - 1
17-7979514-G-A c.1511C>T p.A504V Missense 11/15 - 4
17-7979520-C-A c.1505G>T p.S502I Missense 11/15 - 1
17-7979527-C-G c.1498G>C p.D500H Missense 11/15 - 1
17-7979527-C-T c.1498G>A p.D500N Missense 11/15 - 7
17-7979529-C-T c.1496G>A p.R499H Missense 11/15 - 2
17-7979530-G-A c.1495C>T p.R499C Missense 11/15 - 5
17-7979531-G-C c.1494C>G p.Y498* Nonsense 11/15 - 1
17-7979541-C-T c.1484G>A p.G495E Missense 11/15 - 4
17-7979548-G-T c.1477C>A p.L493M Missense 11/15 - 4
17-7979555-G-A c.1470C>T p.V490= Synonymous 11/15 - 2
17-7979557-C-T c.1468G>A p.V490I Missense 11/15 - 1
17-7979562-C-T c.1463G>A p.R488H Missense 11/15 - 4
17-7979563-G-A c.1462C>T p.R488C Missense 11/15 - 1
17-7979565-T-C c.1460A>G p.E487G Missense 11/15 - 1
17-7979566-C-T c.1459G>A p.E487K Missense 11/15 - 3
17-7979569-CAA-C c.1454_1455del p.F485Cfs*16 Frameshift 11/15 - 1
17-7979577-T-C c.1448A>G p.N483S Missense 11/15 - 2
17-7979576-A-AT c.1448dup p.N483Kfs*2 Frameshift 11/15 - 1
17-7979584-G-A c.1441C>T p.L481F Missense 11/15 - 1
17-7979590-G-A c.1435C>T p.L479F Missense 11/15 - 6
17-7979592-C-T c.1433G>A p.S478N Missense 11/15 - 2
17-7979598-T-C c.1427A>G p.Y476C Missense 11/15 - 1
17-7979598-T-G c.1427A>C p.Y476S Missense 11/15 - 1
17-7979600-G-A c.1425C>T p.T475= Synonymous 11/15 - 1
17-7979600-G-C c.1425C>G p.T475= Synonymous 11/15 - 1
17-7979600-G-T c.1425C>A p.T475= Synonymous 11/15 - 1
17-7979602-T-C c.1423A>G p.T475A Missense 11/15 - 1
17-7979603-G-A c.1422C>T p.L474= Synonymous 11/15 - 1
17-7979603-G-C c.1422C>G p.L474= Synonymous 11/15 - 1
17-7979603-G-T c.1422C>A p.L474= Synonymous 11/15 - 1
17-7979605-G-T c.1420C>A p.L474I Missense 11/15 - 1
17-7979609-C-A c.1416G>T p.S472= Synonymous 11/15 - 1
17-7979609-C-G c.1416G>C p.S472= Synonymous 11/15 - 1
17-7979609-C-T c.1416G>A p.S472= Synonymous 11/15 - 3
17-7979610-G-A c.1415C>T p.S472L Missense 11/15 - 5
17-7979613-A-G c.1412T>C p.L471P Missense 11/15 - 1
17-7979614-G-C c.1411C>G p.L471V Missense 11/15 - 1
17-7979619-C-T c.1406G>A p.R469Q Missense 11/15 - 1
17-7979620-G-A c.1405C>T p.R469W Missense 11/15 - 7
17-7979624-C-A c.1401G>T p.M467I Missense 11/15 - 1
17-7979624-C-G c.1401G>C p.M467I Missense 11/15 - 1
17-7979624-C-T c.1401G>A p.M467I Missense 11/15 - 1
17-7979630-CCC-GCT c.1393_1395delinsAGC p.G465S Missense 11/15 - 1
17-7979631-C-A c.1394G>T p.G465V Missense 11/15 - 2
17-7979631-C-T c.1394G>A p.G465E Missense 11/15 - 3
17-7979635-C-A c.1390G>T p.A464S Missense 11/15 - 2
17-7979635-CA-C c.1389del p.F463Lfs*4 Frameshift 11/15 - 2
17-7979640-C-A c.1385G>T p.G462V Missense 11/15 - 1
17-7979640-C-T c.1385G>A p.G462D Missense 11/15 - 3
17-7979641-C-G c.1384G>C p.G462R Missense 11/15 - 1
17-7979641-C-T c.1384G>A p.G462S Missense 11/15 - 1
17-7979644-C-T c.1381G>A p.E461K Missense 11/15 - 6
17-7979645-C-T c.1380G>A p.V460= Synonymous 11/15 - 2
17-7979647-C-T c.1378G>A p.V460M Missense 11/15 - 2
17-7979649-C-T c.1376G>A p.G459D Missense 11/15 - 1
17-7979653-G-A c.1372C>T p.L458= Synonymous 11/15 - 2
17-7979656-A-G c.1369T>C p.S457P Missense 11/15 - 1
17-7979661-C-T c.1364G>A p.G455D Missense 11/15 - 2
17-7979984-AG-A c.1353del p.S452Lfs*15 Frameshift 10/15 - 1
17-7979985-A-AT c.1351_1352insA p.L451Hfs*27 Frameshift 10/15 - 1
17-7979987-C-T c.1350G>A p.G450= Synonymous 10/15 - 1
17-7979988-C-T c.1349G>A p.G450E Missense 10/15 - 3
17-7979991-C-A c.1346G>T p.G449V Missense 10/15 - 1
17-7979992-C-G c.1345G>C p.G449R Missense 10/15 - 1
17-7979992-C-T c.1345G>A p.G449R Missense 10/15 - 1
17-7979986-GC-G c.1350del p.L451Sfs*16 Frameshift 10/15 - 3
17-7979986-G-GC c.1350dup p.L451Afs*27 Frameshift 10/15 - 5
17-7979995-C-T c.1342G>A p.E448K Missense 10/15 - 1
17-7980000-A-G c.1337T>C p.L446P Missense 10/15 - 1
17-7980001-G-T c.1336C>A p.L446I Missense 10/15 - 1
17-7979998-TGAG-T c.1336_1338del p.L446del InFrameDeletion 10/15 - 1
17-7980004-G-A c.1333C>T p.L445F Missense 10/15 - 1
17-7980007-C-T c.1330G>A p.V444I Missense 10/15 - 2
17-7980010-C-T c.1327G>A p.A443T Missense 10/15 - 2
17-7980011-C-T c.1326G>A p.R442= Synonymous 10/15 - 2
17-7980012-C-A c.1325G>T p.R442L Missense 10/15 - 3
17-7980012-C-CATTTGCCTTT c.1324_1325insAAAGGCAAAT p.R442Qfs*10 Frameshift 10/15 - 1
17-7980012-C-T c.1325G>A p.R442Q Missense 10/15 - 2
17-7980013-G-A c.1324C>T p.R442W Missense 10/15 - 4
17-7980015-C-G c.1322G>C p.G441A Missense 10/15 - 1
17-7980019-T-A c.1318A>T p.I440F Missense 10/15 - 2
17-7980028-T-A c.1309A>T p.I437F Missense 10/15 - 1
17-7980028-T-C c.1309A>G p.I437V Missense 10/15 - 1
17-7980033-A-G c.1304T>C p.V435A Missense 10/15 - 1
17-7980034-C-T c.1303G>A p.V435I Missense 10/15 - 3
17-7980035-G-A c.1302C>T p.T434= Synonymous 10/15 - 1
17-7980035-G-C c.1302C>G p.T434= Synonymous 10/15 - 1
17-7980035-G-T c.1302C>A p.T434= Synonymous 10/15 - 1
17-7980038-G-A c.1299C>T p.Y433= Synonymous 10/15 - 2
17-7980041-T-C c.1296A>G p.R432= Synonymous 10/15 - 1
17-7980042-C-T c.1295G>A p.R432Q Missense 10/15 - 3
17-7980043-G-A c.1294C>T p.R432* Nonsense 10/15 - 5
17-7980050-G-T c.1287C>A p.P429= Synonymous 10/15 - 1
17-7980052-G-T c.1285C>A p.P429T Missense 10/15 - 1
17-7980060-A-G c.1277T>C p.L426P Missense 10/15 - 4
17-7980190-C-T c.1275+118G>A - IntronicSNV - 9/14 2
17-7980310-T-TG c.1272dup p.K425Qfs*24 Frameshift 9/15 - 1
17-7980317-G-C c.1266C>G p.P422= Synonymous 9/15 - 2
17-7980318-G-A c.1265C>T p.P422L Missense 9/15 - 4
17-7980322-G-A c.1261C>T p.H421Y Missense 9/15 - 2
17-7980325-A-C c.1258T>G p.C420G Missense 9/15 - 2
17-7980325-A-G c.1258T>C p.C420R Missense 9/15 - 1
17-7980328-T-C c.1255A>G p.M419V Missense 9/15 - 1
17-7980328-T-G c.1255A>C p.M419L Missense 9/15 - 3
17-7980332-CAG-AAA c.1249_1251delinsTTT p.L417F Missense 9/15 - 1
17-7980335-G-C c.1248C>G p.N416K Missense 9/15 - 2
17-7980335-G-T c.1248C>A p.N416K Missense 9/15 - 2
17-7980338-C-T c.1245G>A p.R415= Synonymous 9/15 - 3
17-7980341-C-A c.1242G>T p.L414= Synonymous 9/15 - 1
17-7980341-C-G c.1242G>C p.L414= Synonymous 9/15 - 1
17-7980341-C-T c.1242G>A p.L414= Synonymous 9/15 - 1
17-7980343-G-A c.1240C>T p.L414= Synonymous 9/15 - 1
17-7980344-CAA-GAT c.1237_1239delinsATC p.L413I Missense 9/15 - 1
17-7980348-G-T c.1235C>A p.A412D Missense 9/15 - 1
17-7980353-G-A c.1230C>T p.C410= Synonymous 9/15 - 1
17-7980354-C-A c.1229G>T p.C410F Missense 9/15 - 2
17-7980355-A-G c.1228T>C p.C410R Missense 9/15 - 2
17-7980356-G-A c.1227C>T p.F409= Synonymous 9/15 - 1
17-7980363-T-C c.1220A>G p.E407G Missense 9/15 - 1
17-7980364-C-T c.1219G>A p.E407K Missense 9/15 - 2
17-7980366-G-A c.1217C>T p.A406V Missense 9/15 - 1
17-7980367-C-T c.1216G>A p.A406T Missense 9/15 - 1
17-7980371-G-A c.1212C>T p.L404= Synonymous 9/15 - 1
17-7980372-A-C c.1211T>G p.L404R Missense 9/15 - 1
17-7980376-G-A c.1207C>T p.H403Y Missense 9/15 - 2
17-7980386-C-T c.1197G>A p.L399= Synonymous 9/15 - 1
17-7980390-T-C c.1193A>G p.H398R Missense 9/15 - 1
17-7980391-G-A c.1192C>T p.H398Y Missense 9/15 - 4
17-7980391-G-T c.1192C>A p.H398N Missense 9/15 - 1
17-7980394-C-T c.1189G>A p.A397T Missense 9/15 - 2
17-7980403-C-T c.1180G>A p.E394K Missense 9/15 - 3
17-7980404-G-A c.1179C>T p.H393= Synonymous 9/15 - 4
17-7980404-G-C c.1179C>G p.H393Q Missense 9/15 - 2
17-7980404-G-T c.1179C>A p.H393Q Missense 9/15 - 2
17-7980407-G-A c.1176C>T p.S392= Synonymous 9/15 - 2
17-7980411-T-A c.1172A>T p.Y391F Missense 9/15 - 1
17-7980411-TAG-T c.1170_1171del p.F390Lfs*17 Frameshift 9/15 - 1
17-7980413-GA-CC c.1169_1170delinsGG p.F390W Missense 9/15 - 1
17-7980418-C-T c.1165G>A p.E389K Missense 9/15 - 1
17-7980419-C-T c.1164G>A p.A388= Synonymous 9/15 - 1
17-7980420-G-A c.1163C>T p.A388V Missense 9/15 - 5
17-7980421-C-A c.1162G>T p.A388S Missense 9/15 - 1
17-7980421-C-T c.1162G>A p.A388T Missense 9/15 - 1
17-7980426-C-T c.1157G>A p.R386H Missense 9/15 - 2
17-7980427-G-A c.1156C>T p.R386C Missense 9/15 - 8
17-7980430-C-A c.1153G>T p.V385L Missense 9/15 - 1
17-7980430-C-G c.1153G>C p.V385L Missense 9/15 - 1
17-7980435-G-A c.1148C>T p.T383M Missense 9/15 - 3
17-7980439-T-C c.1144A>G p.K382E Missense 9/15 - 1
17-7980441-G-T c.1142C>A p.A381D Missense 9/15 - 1
17-7980449-C-T c.1134G>A p.W378* Nonsense 9/15 - 1
17-7980450-C-T c.1133G>A p.W378* Nonsense 9/15 - 1
17-7980454-C-T c.1129G>A p.D377N Missense 9/15 - 1
17-7980456-C-T c.1127G>A p.W376* Nonsense 9/15 - 1
17-7980465-T-C c.1118A>G p.D373G Missense 9/15 - 2
17-7980469-T-A c.1114A>T p.S372C Missense 9/15 - 1
17-7980471-G-T c.1112C>A p.P371H Missense 9/15 - 1
17-7980472-G-T c.1111C>A p.P371T Missense 9/15 - 1
17-7980475-G-T c.1108C>A p.L370M Missense 9/15 - 1
17-7980479-G-A c.1104C>T p.I368= Synonymous 9/15 - 3
17-7980479-G-T c.1104C>A p.I368= Synonymous 9/15 - 4
17-7980483-G-A c.1100C>T p.P367L Missense 9/15 - 1
17-7980483-GG-AA c.1099_1100delinsTT p.P367F Missense 9/15 - 1
17-7980501-G-T c.1082C>A p.T361N Missense 9/15 - 1
17-7980505-G-A c.1078C>T p.Q360* Nonsense 9/15 - 1
17-7980505-G-C c.1078C>G p.Q360E Missense 9/15 - 1
17-7980507-C-A c.1076G>T p.S359I Missense 9/15 - 1
17-7980508-T-A c.1075A>T p.S359C Missense 9/15 - 1
17-7980508-T-C c.1075A>G p.S359G Missense 9/15 - 1
17-7980510-AG-CT c.1072_1073inv p.L358S Missense 9/15 - 1
17-7982713-C-G c.1071+1G>C - IntronicSNV - 8/14 1
17-7982712-A-AC c.1071+1dup - SpliceDonorInsertion 8/15 - 1
17-7982714-C-A c.1071G>T p.Q357H Missense 8/15 - 1
17-7982714-C-G c.1071G>C p.Q357H Missense 8/15 - 1
17-7982716-G-A c.1069C>T p.Q357* Nonsense 8/15 - 1
17-7982722-C-T c.1063G>A p.A355T Missense 8/15 - 1
17-7982727-G-A c.1058C>T p.P353L Missense 8/15 - 3
17-7982728-G-A c.1057C>T p.P353S Missense 8/15 - 1
17-7982728-G-T c.1057C>A p.P353T Missense 8/15 - 2
17-7982729-C-A c.1056G>T p.M352I Missense 8/15 - 1
17-7982735-C-T c.1050G>A p.K350= Synonymous 8/15 - 1
17-7982739-C-T c.1046G>A p.G349D Missense 8/15 - 1
17-7982745-G-A c.1040C>T p.P347L Missense 8/15 - 1
17-7982748-C-T c.1037G>A p.G346E Missense 8/15 - 1
17-7982755-G-A c.1030C>T p.H344Y Missense 8/15 - 1
17-7982758-G-A c.1027C>T p.L343= Synonymous 8/15 - 1
17-7982760-A-G c.1025T>C p.L342P Missense 8/15 - 1
17-7982760-A-T c.1025T>A p.L342Q Missense 8/15 - 1
17-7982764-A-C c.1021T>G p.C341G Missense 8/15 - 1
17-7982764-A-G c.1021T>C p.C341R Missense 8/15 - 1
17-7982767-G-A c.1018C>T p.L340F Missense 8/15 - 2
17-7982769-G-A c.1016C>T p.P339L Missense 8/15 - 1
17-7982770-G-C c.1015C>G p.P339A Missense 8/15 - 1
17-7982766-AGG-A c.1017_1018del p.C341Pfs*32 Frameshift 8/15 - 1
17-7982766-AG-A c.1018del p.L340Sfs*12 Frameshift 8/15 - 2
17-7982772-G-A c.1013C>T p.A338V Missense 8/15 - 1
17-7982777-G-A c.1008C>T p.H336= Synonymous 8/15 - 1
17-7982783-GC-G c.1002del p.Q334Hfs*18 Frameshift 8/15 - 1
17-7982790-C-T c.995G>A p.R332Q Missense 8/15 - 1
17-7982793-C-T c.992G>A p.G331D Missense 8/15 - 1
17-7982795-GCT-TCA c.988_990delinsTGA p.S330* Nonsense 8/15 - 1
17-7982795-G-T c.990C>A p.S330R Missense 8/15 - 1
17-7982805-A-G c.980T>C p.V327A Missense 8/15 - 1
17-7982811-G-T c.974C>A p.P325H Missense 8/15 - 1
17-7982812-G-A c.973C>T p.P325S Missense 8/15 - 1
17-7982818-C-T c.967G>A p.G323S Missense 8/15 - 1
17-7982827-T-C c.958A>G p.I320V Missense 8/15 - 1
17-7982832-T-C c.953A>G p.Y318C Missense 8/15 - 1
17-7982836-C-T c.949G>A p.D317N Missense 8/15 - 2
17-7982840-C-A c.945G>T p.L315= Synonymous 8/15 - 1
17-7982840-C-G c.945G>C p.L315= Synonymous 8/15 - 1
17-7982840-C-T c.945G>A p.L315= Synonymous 8/15 - 1
17-7982842-G-A c.943C>T p.L315= Synonymous 8/15 - 1
17-7982845-A-G c.940T>C p.Y314H Missense 8/15 - 1
17-7982847-A-G c.938T>C p.I313T Missense 8/15 - 1
17-7982852-C-A c.933G>T p.G311= Synonymous 8/15 - 1
17-7982852-C-G c.933G>C p.G311= Synonymous 8/15 - 1
17-7982852-C-T c.933G>A p.G311= Synonymous 8/15 - 1
17-7983012-G-A c.927+75C>T - IntronicSNV - 7/14 1
17-7983087-C-T c.927G>A p.E309= Synonymous 7/15 - 3
17-7983089-C-T c.925G>A p.E309K Missense 7/15 - 2
17-7983095-C-T c.919G>A p.E307K Missense 7/15 - 1
17-7983097-G-A c.917C>T p.A306V Missense 7/15 - 1
17-7983098-C-A c.916G>T p.A306S Missense 7/15 - 1
17-7983111-T-C c.903A>G p.G301= Synonymous 7/15 - 1
17-7983113-C-T c.901G>A p.G301R Missense 7/15 - 1
17-7983114-C-A c.900G>T p.E300D Missense 7/15 - 1
17-7983116-C-T c.898G>A p.E300K Missense 7/15 - 4
17-7983119-C-T c.895G>A p.G299S Missense 7/15 - 1
17-7983121-A-G c.893T>C p.L298P Missense 7/15 - 1
17-7983125-A-G c.889T>C p.F297L Missense 7/15 - 1
17-7983127-G-A c.887C>T p.P296L Missense 7/15 - 4
17-7983127-G-T c.887C>A p.P296Q Missense 7/15 - 1
17-7983128-G-T c.886C>A p.P296T Missense 7/15 - 1
17-7983131-C-G c.883G>C p.A295P Missense 7/15 - 1
17-7983134-C-G c.880G>C p.V294L Missense 7/15 - 1
17-7983140-C-T c.874G>A p.D292N Missense 7/15 - 3
17-7983145-G-A c.869C>T p.T290I Missense 7/15 - 1
17-7983152-G-T c.862C>A p.P288T Missense 7/15 - 1
17-7983149-CG-C c.864del p.V289Sfs*63 Frameshift 7/15 - 1
17-7983156-C-T c.858G>A p.K286= Synonymous 7/15 - 2
17-7983161-C-T c.853G>A p.D285N Missense 7/15 - 1
17-7983169-C-TT c.845delinsAA p.R282Qfs*92 Frameshift 7/15 - 1
17-7983174-G-A c.840C>T p.C280= Synonymous 7/15 - 1
17-7983179-G-T c.835C>A p.R279S Missense 7/15 - 1
17-7983189-G-A c.825C>T p.G275= Synonymous 7/15 - 1
17-7983189-G-C c.825C>G p.G275= Synonymous 7/15 - 1
17-7983189-G-T c.825C>A p.G275= Synonymous 7/15 - 1
17-7983191-C-A c.823G>T p.G275C Missense 7/15 - 1
17-7983191-C-T c.823G>A p.G275S Missense 7/15 - 2
17-7983194-G-T c.820C>A p.P274T Missense 7/15 - 3
17-7983200-C-A c.814G>T p.V272F Missense 7/15 - 1
17-7983200-C-T c.814G>A p.V272I Missense 7/15 - 2
17-7983203-C-T c.811G>A p.G271S Missense 7/15 - 2
17-7983211-T-C c.803A>G p.Y268C Missense 7/15 - 1
17-7983217-T-G c.797A>C p.Y266S Missense 7/15 - 2
17-7983221-C-T c.793G>A p.G265R Missense 7/15 - 1
17-7983222-A-C c.792T>G p.F264L Missense 7/15 - 1
17-7983222-A-T c.792T>A p.F264L Missense 7/15 - 1
17-7983224-A-G c.790T>C p.F264L Missense 7/15 - 1
17-7983222-AAAG-A c.789_791del p.F264del InFrameDeletion 7/15 - 2
17-7983228-GG-CC c.785_786inv p.T262R Missense 7/15 - 1
17-7983228-GG-CT c.785_786delinsAG p.T262K Missense 7/15 - 1
17-7983236-C-T c.778G>A p.E260K Missense 7/15 - 3
17-7983239-C-T c.775G>A p.A259T Missense 7/15 - 1
17-7983242-A-G c.772T>C p.W258R Missense 7/15 - 1
17-7983242-CAG-C c.771_772del p.H257Qfs*116 Frameshift 7/15 - 1
17-7983245-G-C c.769C>G p.H257D Missense 7/15 - 2
17-7983248-C-A c.766G>T p.E256* Nonsense 7/15 - 1
17-7983249-G-A c.765C>T p.A255= Synonymous 7/15 - 1
17-7983250-G-T c.764C>A p.A255D Missense 7/15 - 1
17-7983253-A-T c.761T>A p.V254E Missense 7/15 - 1
17-7983254-C-G c.760G>C p.V254L Missense 7/15 - 1
17-7983255-G-C c.759C>G p.Y253* Nonsense 7/15 - 1
17-7983255-G-T c.759C>A p.Y253* Nonsense 7/15 - 1
17-7983317-G-T c.755-58C>A - IntronicSNV - 6/14 1
17-7983392-C-T c.755-133G>A - IntronicSNV - 6/14 1
17-7983423-A-C c.754+130T>G - IntronicSNV - 6/14 1
17-7983455-T-A c.754+98A>T - IntronicSNV - 6/14 1
17-7983459-T-A c.754+94A>T - IntronicSNV - 6/14 1
17-7983518-T-C c.754+35A>G - IntronicSNV - 6/14 1
17-7983555-G-C c.752C>G p.S251C Missense 6/15 - 1
17-7983556-A-C c.751T>G p.S251A Missense 6/15 - 1
17-7983557-G-A c.750C>T p.V250= Synonymous 6/15 - 3
17-7983557-G-C c.750C>G p.V250= Synonymous 6/15 - 2
17-7983557-G-T c.750C>A p.V250= Synonymous 6/15 - 3
17-7983563-CAGA-C c.742_744del p.S248del InFrameDeletion 6/15 - 1
17-7983561-ACAGATTTCTTGC-A c.734_745del p.G245_S248del InFrameDeletion 6/15 - 1
17-7983565-A-T c.742T>A p.S248T Missense 6/15 - 1
17-7983572-G-T c.735C>A p.G245= Synonymous 6/15 - 1
17-7983573-C-T c.734G>A p.G245D Missense 6/15 - 1
17-7983577-G-A c.730C>T p.P244S Missense 6/15 - 1
17-7983582-A-C c.725T>G p.I242S Missense 6/15 - 1
17-7983584-T-C c.723A>G p.K241= Synonymous 6/15 - 2
17-7983590-A-C c.717T>G p.I239M Missense 6/15 - 1
17-7983592-T-C c.715A>G p.I239V Missense 6/15 - 1
17-7983595-C-T c.712G>A p.D238N Missense 6/15 - 2
17-7983596-C-A c.711G>T p.K237N Missense 6/15 - 1
17-7983596-C-G c.711G>C p.K237N Missense 6/15 - 1
17-7983597-T-A c.710A>T p.K237M Missense 6/15 - 3
17-7983605-C-A c.702G>T p.K234N Missense 6/15 - 1
17-7983605-C-G c.702G>C p.K234N Missense 6/15 - 1
17-7983608-C-A c.699G>T p.W233C Missense 6/15 - 5
17-7983608-C-G c.699G>C p.W233C Missense 6/15 - 2
17-7983608-C-T c.699G>A p.W233* Nonsense 6/15 - 1
17-7983609-C-T c.698G>A p.W233* Nonsense 6/15 - 1
17-7983611-C-T c.696G>A p.S232= Synonymous 6/15 - 1
17-7983616-G-T c.691C>A p.H231N Missense 6/15 - 1
17-7983618-T-C c.689A>G p.K230R Missense 6/15 - 1
17-7983619-T-G c.688A>C p.K230Q Missense 6/15 - 1
17-7983628-A-T c.679T>A p.L227M Missense 6/15 - 1
17-7983630-A-G c.677T>C p.L226P Missense 6/15 - 1
17-7983633-C-A c.674G>T p.G225V Missense 6/15 - 1
17-7983634-C-T c.673G>A p.G225S Missense 6/15 - 1
17-7983636-C-T c.671G>A p.R224H Missense 6/15 - 1
17-7983637-G-T c.670C>A p.R224S Missense 6/15 - 1
17-7983639-A-G c.668T>C p.V223A Missense 6/15 - 2
17-7983642-T-A c.665A>T p.K222I Missense 6/15 - 1
17-7983646-A-T c.661T>A p.F221I Missense 6/15 - 1
17-7983649-C-T c.658G>A p.A220T Missense 6/15 - 2
17-7983681-G-A c.651-25C>T - IntronicSNV - 5/14 7
17-7983681-G-T c.651-25C>A - IntronicSNV - 5/14 7
17-7983799-A-G c.651-143T>C - IntronicSNV - 5/14 7
17-7983969-G-C c.650+7C>G - IntronicSNV - 5/14 12
17-7983977-TG-T c.648del p.M217Wfs*20 Frameshift 5/15 - 1
17-7983982-C-T c.644G>A p.G215E Missense 5/15 - 2
17-7983992-C-T c.634G>A p.V212I Missense 5/15 - 1
17-7983993-CGA-C c.632_633del p.F211Cfs*29 Frameshift 5/15 - 1
17-7983992-CGAA-C c.631_633del p.F211del InFrameDeletion 5/15 - 1
17-7983998-A-T c.628T>A p.F210I Missense 5/15 - 1
17-7984000-G-A c.626C>T p.S209F Missense 5/15 - 1
17-7983997-AAGG-A c.626_628del p.S209del InFrameDeletion 5/15 - 1
17-7984004-C-A c.622G>T p.A208S Missense 5/15 - 2
17-7984005-C-A c.621G>T p.T207= Synonymous 5/15 - 1
17-7984005-C-G c.621G>C p.T207= Synonymous 5/15 - 1
17-7984005-C-T c.621G>A p.T207= Synonymous 5/15 - 4
17-7984006-G-T c.620C>A p.T207K Missense 5/15 - 1
17-7984012-A-G c.614T>C p.L205P Missense 5/15 - 1
17-7984017-G-A c.609C>T p.S203= Synonymous 5/15 - 1
17-7984019-A-C c.607T>G p.S203A Missense 5/15 - 1
17-7984019-A-G c.607T>C p.S203P Missense 5/15 - 1
17-7984020-G-T c.606C>A p.Y202* Nonsense 5/15 - 1
17-7984025-G-T c.601C>A p.R201S Missense 5/15 - 1
17-7984026-G-A c.600C>T p.L200= Synonymous 5/15 - 2
17-7984026-G-C c.600C>G p.L200= Synonymous 5/15 - 1
17-7984026-G-T c.600C>A p.L200= Synonymous 5/15 - 1
17-7984028-G-A c.598C>T p.L200F Missense 5/15 - 2
17-7984035-G-T c.591C>A p.N197K Missense 5/15 - 2
17-7984038-C-A c.588G>T p.L196= Synonymous 5/15 - 1
17-7984038-C-G c.588G>C p.L196= Synonymous 5/15 - 1
17-7984038-C-T c.588G>A p.L196= Synonymous 5/15 - 1
17-7984040-G-A c.586C>T p.L196= Synonymous 5/15 - 1
17-7984041-G-A c.585C>T p.F195= Synonymous 5/15 - 2
17-7984041-G-C c.585C>G p.F195L Missense 5/15 - 1
17-7984041-G-T c.585C>A p.F195L Missense 5/15 - 1
17-7984043-A-G c.583T>C p.F195L Missense 5/15 - 1
17-7984043-A-T c.583T>A p.F195I Missense 5/15 - 1
17-7984045-T-A c.581A>T p.K194M Missense 5/15 - 1
17-7984046-T-A c.580A>T p.K194* Nonsense 5/15 - 1
17-7984052-C-T c.574G>A p.A192T Missense 5/15 - 1
17-7984053-C-A c.573G>T p.K191N Missense 5/15 - 1
17-7984053-C-G c.573G>C p.K191N Missense 5/15 - 1
17-7984071-T-A c.555A>T p.P185= Synonymous 5/15 - 1
17-7984071-T-C c.555A>G p.P185= Synonymous 5/15 - 1
17-7984071-T-G c.555A>C p.P185= Synonymous 5/15 - 1
17-7984074-G-A c.552C>T p.F184= Synonymous 5/15 - 4
17-7984076-A-T c.550T>A p.F184I Missense 5/15 - 1
17-7984077-T-A c.549A>T p.G183= Synonymous 5/15 - 1
17-7984077-T-C c.549A>G p.G183= Synonymous 5/15 - 1
17-7984077-T-G c.549A>C p.G183= Synonymous 5/15 - 1
17-7984078-C-T c.548G>A p.G183E Missense 5/15 - 5
17-7984079-C-G c.547G>C p.G183R Missense 5/15 - 1
17-7984079-C-T c.547G>A p.G183R Missense 5/15 - 4
17-7984083-A-C c.543T>G p.I181M Missense 5/15 - 2
17-7984083-A-G c.543T>C p.I181= Synonymous 5/15 - 1
17-7984083-A-T c.543T>A p.I181= Synonymous 5/15 - 1
17-7984091-C-A c.535G>T p.G179C Missense 5/15 - 1
17-7984091-C-T c.535G>A p.G179S Missense 5/15 - 1
17-7984157-A-C c.527+45T>G - IntronicSNV - 4/14 7
17-7984157-A-G c.527+45T>C - IntronicSNV - 4/14 6
17-7984157-A-T c.527+45T>A - IntronicSNV - 4/14 6
17-7984200-A-C c.527+2T>G - IntronicSNV - 4/14 2
17-7984201-C-T c.527+1G>A - IntronicSNV - 4/14 1
17-7984202-T-G c.527A>C p.E176A Missense 4/15 - 2
17-7984203-C-T c.526G>A p.E176K Missense 4/15 - 9
17-7984206-G-A c.523C>T p.P175S Missense 4/15 - 1
17-7984208-C-T c.521G>A p.R174Q Missense 4/15 - 1
17-7984210-G-A c.519C>T p.N173= Synonymous 4/15 - 2
17-7984210-G-C c.519C>G p.N173K Missense 4/15 - 1
17-7984213-G-A c.516C>T p.P172= Synonymous 4/15 - 1
17-7984215-G-T c.514C>A p.P172T Missense 4/15 - 3
17-7984216-G-A c.513C>T p.N171= Synonymous 4/15 - 1
17-7984219-GCG-CTT c.508_510delinsAAG p.R170K Missense 4/15 - 1
17-7984220-CG-AT c.508_509delinsAT p.R170I Missense 4/15 - 1
17-7984221-G-A c.508C>T p.R170C Missense 4/15 - 3
17-7984221-G-C c.508C>G p.R170G Missense 4/15 - 1
17-7984221-G-T c.508C>A p.R170S Missense 4/15 - 1
17-7984225-C-T c.504G>A p.R168= Synonymous 4/15 - 1
17-7984227-T-G c.502A>C p.R168= Synonymous 4/15 - 1
17-7984228-C-T c.501G>A p.R167= Synonymous 4/15 - 2
17-7984229-C-G c.500G>C p.R167P Missense 4/15 - 2
17-7984229-C-T c.500G>A p.R167Q Missense 4/15 - 1
17-7984231-CA-GT c.497_498delinsAC p.V166D Missense 4/15 - 1
17-7984233-C-T c.496G>A p.V166M Missense 4/15 - 3
17-7984234-C-G c.495G>C p.P165= Synonymous 4/15 - 1
17-7984235-G-T c.494C>A p.P165Q Missense 4/15 - 1
17-7984236-G-T c.493C>A p.P165T Missense 4/15 - 1
17-7984238-G-T c.491C>A p.P164H Missense 4/15 - 1
17-7984240-GC-TT c.488_489delinsAA p.R163Q Missense 4/15 - 1
17-7984241-C-G c.488G>C p.R163P Missense 4/15 - 1
17-7984242-G-A c.487C>T p.R163C Missense 4/15 - 1
17-7984242-G-C c.487C>G p.R163G Missense 4/15 - 1
17-7984247-CT-AG c.481_482inv p.S161L Missense 4/15 - 1
17-7984248-T-C c.481A>G p.S161G Missense 4/15 - 1
17-7984253-A-C c.476T>G p.I159S Missense 4/15 - 1
17-7984253-A-G c.476T>C p.I159T Missense 4/15 - 1
17-7984263-A-T c.466T>A p.Y156N Missense 4/15 - 2
17-7984264-G-A c.465C>T p.S155= Synonymous 4/15 - 1
17-7984265-CT-AA c.463_464delinsTT p.S155F Missense 4/15 - 2
17-7984265-CT-GG c.463_464delinsCC p.S155P Missense 4/15 - 1
17-7984268-G-A c.461C>T p.P154L Missense 4/15 - 1
17-7984278-G-A c.451C>T p.P151S Missense 4/15 - 6
17-7984283-A-C c.446T>G p.F149C Missense 4/15 - 1
17-7984284-A-C c.445T>G p.F149V Missense 4/15 - 1
17-7984284-A-G c.445T>C p.F149L Missense 4/15 - 2
17-7984287-C-G c.442G>C p.V148L Missense 4/15 - 1
17-7984289-C-T c.440G>A p.R147Q Missense 4/15 - 2
17-7984419-C-T c.434+5G>A - IntronicSNV - 3/14 1
17-7984424-T-C c.434A>G p.H145R Missense 3/15 - 1
17-7984434-C-T c.424G>A p.D142N Missense 3/15 - 3
17-7984438-C-A c.420G>T p.K140N Missense 3/15 - 1
17-7984438-C-T c.420G>A p.K140= Synonymous 3/15 - 2
17-7984441-TGG-T c.416_417del p.A139Efs*37 Frameshift 3/15 - 1
17-7984442-G-T c.416C>A p.A139D Missense 3/15 - 3
17-7984451-T-C c.407A>G p.E136G Missense 3/15 - 1
17-7984452-C-T c.406G>A p.E136K Missense 3/15 - 3
17-7984455-C-G c.403G>C p.E135Q Missense 3/15 - 1
17-7984457-T-G c.401A>C p.K134T Missense 3/15 - 1
17-7984458-T-C c.400A>G p.K134E Missense 3/15 - 1
17-7984460-C-T c.398G>A p.R133K Missense 3/15 - 1
17-7984460-CT-AG c.397_398inv p.R133L Missense 3/15 - 1
17-7984461-T-C c.397A>G p.R133G Missense 3/15 - 1
17-7984464-G-T c.394C>A p.H132N Missense 3/15 - 1
17-7984465-C-A c.393G>T p.E131D Missense 3/15 - 1
17-7984465-C-G c.393G>C p.E131D Missense 3/15 - 1
17-7984467-C-G c.391G>C p.E131Q Missense 3/15 - 1
17-7984474-G-A c.384C>T p.V128= Synonymous 3/15 - 1
17-7984474-G-C c.384C>G p.V128= Synonymous 3/15 - 1
17-7984474-G-T c.384C>A p.V128= Synonymous 3/15 - 1
17-7984477-G-A c.381C>T p.P127= Synonymous 3/15 - 3
17-7984477-G-C c.381C>G p.P127= Synonymous 3/15 - 2
17-7984477-G-T c.381C>A p.P127= Synonymous 3/15 - 2
17-7984478-G-A c.380C>T p.P127L Missense 3/15 - 4
17-7984479-G-A c.379C>T p.P127S Missense 3/15 - 10
17-7984479-G-C c.379C>G p.P127A Missense 3/15 - 2
17-7984484-G-A c.374C>T p.S125L Missense 3/15 - 2
17-7984487-T-A c.371A>T p.D124V Missense 3/15 - 1
17-7984489-A-G c.369T>C p.D123= Synonymous 3/15 - 2
17-7984496-G-A c.362C>T p.T121I Missense 3/15 - 1
17-7984497-T-C c.361A>G p.T121A Missense 3/15 - 1
17-7984498-T-C c.360A>G p.T120= Synonymous 3/15 - 1
17-7984499-G-A c.359C>T p.T120I Missense 3/15 - 1
17-7984501-C-G c.357G>C p.K119N Missense 3/15 - 1
17-7984501-C-T c.357G>A p.K119= Synonymous 3/15 - 1
17-7984507-T-C c.353-2A>G - IntronicSNV - 2/14 1
17-7984701-T-C c.353-196A>G - IntronicSNV - 2/14 1
17-7984786-A-C c.353-281T>G - IntronicSNV - 2/14 1
17-7989333-C-T c.352+1G>A - IntronicSNV - 2/14 1
17-7989334-C-G c.352G>C p.G118R Missense 2/15 - 2
17-7989334-C-T c.352G>A p.G118R Missense 2/15 - 3
17-7989336-G-A c.350C>T p.T117I Missense 2/15 - 1
17-7989341-C-T c.345G>A p.E115= Synonymous 2/15 - 3
17-7989343-C-T c.343G>A p.E115K Missense 2/15 - 1
17-7989345-C-T c.341G>A p.R114Q Missense 2/15 - 3
17-7989346-G-A c.340C>T p.R114W Missense 2/15 - 7
17-7989348-A-G c.338T>C p.L113P Missense 2/15 - 2
17-7989351-G-A c.335C>T p.A112V Missense 2/15 - 1
17-7989354-AGGGTCTC-A c.325_331del p.E109Wfs*86 Frameshift 2/15 - 1
17-7989357-G-A c.329C>T p.T110I Missense 2/15 - 1
17-7989357-G-T c.329C>A p.T110N Missense 2/15 - 1
17-7989361-C-A c.325G>T p.E109* Nonsense 2/15 - 1
17-7989361-C-T c.325G>A p.E109K Missense 2/15 - 5
17-7989362-G-A c.324C>T p.Y108= Synonymous 2/15 - 6
17-7989362-G-T c.324C>A p.Y108* Nonsense 2/15 - 1
17-7989365-AGCCAT-A c.317_321del p.D106Vfs*17 Frameshift 2/15 - 1
17-7989370-C-T c.316G>A p.D106N Missense 2/15 - 1
17-7989371-C-A c.315G>T p.M105I Missense 2/15 - 6
17-7989371-C-G c.315G>C p.M105I Missense 2/15 - 6
17-7989371-C-T c.315G>A p.M105I Missense 2/15 - 12
17-7989374-C-T c.312G>A p.W104* Nonsense 2/15 - 2
17-7989375-C-T c.311G>A p.W104* Nonsense 2/15 - 3
17-7989379-G-A c.307C>T p.Q103* Nonsense 2/15 - 1
17-7989380-G-C c.306C>G p.Y102* Nonsense 2/15 - 1
17-7989380-G-T c.306C>A p.Y102* Nonsense 2/15 - 1
17-7989381-T-C c.305A>G p.Y102C Missense 2/15 - 2
17-7989385-C-T c.301G>A p.A101T Missense 2/15 - 6
17-7989386-G-A c.300C>T p.P100= Synonymous 2/15 - 2
17-7989386-G-C c.300C>G p.P100= Synonymous 2/15 - 1
17-7989386-G-T c.300C>A p.P100= Synonymous 2/15 - 1
17-7989387-G-A c.299C>T p.P100L Missense 2/15 - 1
17-7989388-G-T c.298C>A p.P100T Missense 2/15 - 1
17-7989389-G-T c.297C>A p.F99L Missense 2/15 - 1
17-7989394-G-A c.292C>T p.H98Y Missense 2/15 - 2
17-7989395-G-T c.291C>A p.Y97* Nonsense 2/15 - 1
17-7989402-C-T c.284G>A p.R95H Missense 2/15 - 4
17-7989403-G-A c.283C>T p.R95C Missense 2/15 - 1
17-7989405-C-T c.281G>A p.G94D Missense 2/15 - 2
17-7989406-C-T c.280G>A p.G94S Missense 2/15 - 6
17-7989409-T-G c.277A>C p.N93H Missense 2/15 - 1
17-7989411-G-T c.275C>A p.P92H Missense 2/15 - 1
17-7989413-GGGC-G c.271_273del p.A91del InFrameDeletion 2/15 - 2
17-7989414-GC-AA c.271_272delinsTT p.A91F Missense 2/15 - 1
17-7989415-C-G c.271G>C p.A91P Missense 2/15 - 2
17-7989427-C-T c.259G>A p.V87M Missense 2/15 - 3
17-7989435-C-T c.251G>A p.C84Y Missense 2/15 - 1
17-7989440-C-T c.246G>A p.W82* Nonsense 2/15 - 1
17-7989441-C-A c.245G>T p.W82L Missense 2/15 - 1
17-7989441-C-T c.245G>A p.W82* Nonsense 2/15 - 1
17-7989444-G-A c.242C>T p.P81L Missense 2/15 - 1
17-7989447-GTCCTTGGGGAAGAAGGCGTAC-G c.219_239del p.Y74_D80del InFrameDeletion 2/15 - 1
17-7989449-C-T c.237G>A p.K79= Synonymous 2/15 - 1
17-7989450-T-G c.236A>C p.K79T Missense 2/15 - 4
17-7989453-G-A c.233C>T p.P78L Missense 2/15 - 1
17-7989454-G-A c.232C>T p.P78S Missense 2/15 - 5
17-7989457-A-T c.229T>A p.F77I Missense 2/15 - 2
17-7989459-A-T c.227T>A p.F76Y Missense 2/15 - 1
17-7989463-C-T c.223G>A p.A75T Missense 2/15 - 2
17-7989464-G-A c.222C>T p.Y74= Synonymous 2/15 - 4
17-7989464-G-C c.222C>G p.Y74* Nonsense 2/15 - 2
17-7989464-G-T c.222C>A p.Y74* Nonsense 2/15 - 2
17-7989466-A-G c.220T>C p.Y74H Missense 2/15 - 1
17-7989465-TACCGCTCTTTGTGCAGGCGGATGATG-T c.195_220del p.I66Rfs*50 Frameshift 2/15 - 1
17-7989468-C-T c.218G>A p.R73Q Missense 2/15 - 1
17-7989469-G-A c.217C>T p.R73W Missense 2/15 - 4
17-7989477-T-G c.209A>C p.H70P Missense 2/15 - 1
17-7989483-C-T c.203G>A p.R68H Missense 2/15 - 1
17-7989484-G-A c.202C>T p.R68C Missense 2/15 - 3
17-7989487-T-A c.199A>T p.I67F Missense 2/15 - 4
17-7989492-A-G c.194T>C p.I65T Missense 2/15 - 1
17-7989492-A-T c.194T>A p.I65N Missense 2/15 - 1
17-7989495-A-G c.191T>C p.L64P Missense 2/15 - 1
17-7989495-A-T c.191T>A p.L64H Missense 2/15 - 1
17-7989499-C-G c.187G>C p.E63Q Missense 2/15 - 2
17-7989503-C-A c.183G>T p.L61= Synonymous 2/15 - 1
17-7989505-G-T c.181C>A p.L61M Missense 2/15 - 1
17-7989506-G-C c.180C>G p.D60E Missense 2/15 - 1
17-7989509-C-T c.177G>A p.Q59= Synonymous 2/15 - 1
17-7989515-G-GTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC c.170_171insGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA p.C57delinsWQQQQQQQQQQH MultiAAMissense 2/15 - 1
17-7989517-A-G c.169T>C p.C57R Missense 2/15 - 1
17-7989520-G-A c.166C>T p.Q56* Nonsense 2/15 - 1
17-7989523-C-T c.163G>A p.V55M Missense 2/15 - 4
17-7989524-G-A c.162C>T p.T54= Synonymous 2/15 - 1
17-7989525-G-A c.161C>T p.T54I Missense 2/15 - 5
17-7989529-A-G c.157T>C p.Y53H Missense 2/15 - 2
17-7989531-T-A c.155A>T p.Q52L Missense 2/15 - 2
17-7989533-G-A c.153C>T p.G51= Synonymous 2/15 - 1
17-7989533-G-C c.153C>G p.G51= Synonymous 2/15 - 1
17-7989533-G-T c.153C>A p.G51= Synonymous 2/15 - 1
17-7989535-C-A c.151G>T p.G51C Missense 2/15 - 1
17-7989535-C-T c.151G>A p.G51S Missense 2/15 - 4
17-7989538-C-T c.148G>A p.V50M Missense 2/15 - 1
17-7990437-G-A c.147+177C>T - IntronicSNV - 1/14 1
17-7990545-G-C c.147+69C>G - IntronicSNV - 1/14 5
17-7990527-GACACACAGAC-G c.147+77_147+86del - IntronicDeletion - 1/14 1
17-7990545-GACACACACAGAC-G c.147+57_147+68del - IntronicDeletion - 1/14 2
17-7990553-CAG-C c.147+59_147+60del - IntronicDeletion - 1/14 2
17-7990555-G-C c.147+59C>G - IntronicSNV - 1/14 3
17-7990565-C-G c.147+49G>C - IntronicSNV - 1/14 2
17-7990567-C-G c.147+47G>C - IntronicSNV - 1/14 7
17-7990569-C-G c.147+45G>C - IntronicSNV - 1/14 1
17-7990573-C-G c.147+41G>C - IntronicSNV - 1/14 1
17-7990567-C-CACACACAG c.147+46_147+47insCTGTGTGT - IntronicInsertion - 1/14 5
17-7990569-C-CACACAG c.147+44_147+45insCTGTGT - IntronicInsertion - 1/14 1
17-7990555-GAC-G c.147+57_147+58del - IntronicDeletion - 1/14 1
17-7990575-C-G c.147+39G>C - IntronicSNV - 1/14 7
17-7990575-C-T c.147+39G>A - IntronicSNV - 1/14 5
17-7990569-CACACACAG-C c.147+37_147+44del - IntronicDeletion - 1/14 1
17-7990575-CAG-C c.147+37_147+38del - IntronicDeletion - 1/14 2
17-7990577-G-C c.147+37C>G - IntronicSNV - 1/14 3
17-7990577-G-T c.147+37C>A - IntronicSNV - 1/14 1
17-7990579-C-G c.147+35G>C - IntronicSNV - 1/14 4
17-7990577-GAC-G c.147+35_147+36del - IntronicDeletion - 1/14 1
17-7990613-CCGCCCCAGTTG-C c.137_147del p.A46Gfs*14 SpliceDonorDeletion 1/15 - 1
17-7990619-C-G c.142G>C p.G48R Missense 1/15 - 1
17-7990619-C-T c.142G>A p.G48R Missense 1/15 - 1
17-7990621-GT-TC c.139_140delinsGA p.T47D Missense 1/15 - 1
17-7990621-GT-G c.139del p.T47Lfs*150 Frameshift 1/15 - 1
17-7990623-T-G c.138A>C p.A46= Synonymous 1/15 - 1
17-7990626-A-G c.135T>C p.F45= Synonymous 1/15 - 2
17-7990633-C-T c.128G>A p.R43K Missense 1/15 - 4
17-7990629-GTC-G c.130_131del p.D44Lfs*19 Frameshift 1/15 - 2
17-7990635-C-A c.126G>T p.G42= Synonymous 1/15 - 1
17-7990635-C-G c.126G>C p.G42= Synonymous 1/15 - 1
17-7990635-C-T c.126G>A p.G42= Synonymous 1/15 - 1
17-7990652-G-A c.109C>T p.L37= Synonymous 1/15 - 1
17-7990654-T-C c.107A>G p.Q36R Missense 1/15 - 5
17-7990665-C-G c.96G>C p.E32D Missense 1/15 - 1
17-7990666-T-C c.95A>G p.E32G Missense 1/15 - 2
17-7990676-GTCCCCACAAT-G c.76_85del p.I26Hfs*10 Frameshift 1/15 - 1
17-7990676-T-A c.85A>T p.T29S Missense 1/15 - 3
17-7990676-T-C c.85A>G p.T29A Missense 1/15 - 1
17-7990678-C-T c.83G>A p.G28E Missense 1/15 - 2
17-7990679-C-A c.82G>T p.G28W Missense 1/15 - 1
17-7990680-C-A c.81G>T p.V27= Synonymous 1/15 - 1
17-7990680-C-G c.81G>C p.V27= Synonymous 1/15 - 1
17-7990684-A-G c.77T>C p.I26T Missense 1/15 - 1
17-7990686-G-A c.75C>T p.T25= Synonymous 1/15 - 3
17-7990687-G-T c.74C>A p.T25N Missense 1/15 - 1
17-7990690-A-G c.71T>C p.L24P Missense 1/15 - 5
17-7990692-T-A c.69A>T p.S23= Synonymous 1/15 - 1
17-7990692-T-C c.69A>G p.S23= Synonymous 1/15 - 1
17-7990692-T-G c.69A>C p.S23= Synonymous 1/15 - 1
17-7990694-A-G c.67T>C p.S23P Missense 1/15 - 1
17-7990695-G-T c.66C>A p.I22= Synonymous 1/15 - 2
17-7990703-C-A c.58G>T p.D20Y Missense 1/15 - 1
17-7990704-C-A c.57G>T p.R19= Synonymous 1/15 - 1
17-7990704-C-G c.57G>C p.R19= Synonymous 1/15 - 1
17-7990704-C-T c.57G>A p.R19= Synonymous 1/15 - 1
17-7990706-G-A c.55C>T p.R19W Missense 1/15 - 2
17-7990706-G-T c.55C>A p.R19= Synonymous 1/15 - 1
17-7990708-G-A c.53C>T p.T18I Missense 1/15 - 3
17-7990710-T-G c.51A>C p.G17= Synonymous 1/15 - 1
17-7990713-C-A c.48G>T p.S16= Synonymous 1/15 - 2
17-7990713-CG-AC c.47_48delinsGT p.S16C Missense 1/15 - 1
17-7990714-G-A c.47C>T p.S16L Missense 1/15 - 3
17-7990714-G-C c.47C>G p.S16W Missense 1/15 - 2
17-7990715-A-C c.46T>G p.S16A Missense 1/15 - 1
17-7990717-A-G c.44T>C p.L15S Missense 1/15 - 1
17-7990718-A-T c.43T>A p.L15M Missense 1/15 - 1
17-7990719-G-A c.42C>T p.L14= Synonymous 1/15 - 2
17-7990724-C-A c.37G>T p.D13Y Missense 1/15 - 1
17-7990724-C-T c.37G>A p.D13N Missense 1/15 - 4
17-7990725-G-A c.36C>T p.T12= Synonymous 1/15 - 1
17-7990725-G-C c.36C>G p.T12= Synonymous 1/15 - 1
17-7990725-GG-CA c.35_36delinsTG p.T12M Missense 1/15 - 1
17-7990725-G-T c.36C>A p.T12= Synonymous 1/15 - 1
17-7990730-C-T c.31G>A p.G11S Missense 1/15 - 1
17-7990733-T-C c.28A>G p.T10A Missense 1/15 - 1
17-7990735-G-A c.26C>T p.A9V Missense 1/15 - 2
17-7990738-A-G c.23T>C p.V8A Missense 1/15 - 1
17-7990740-CCT-ACA c.19_21delinsTGT p.R7C Missense 1/15 - 1
17-7990740-C-T c.21G>A p.R7= Synonymous 1/15 - 2
17-7990742-T-G c.19A>C p.R7= Synonymous 1/15 - 1
17-7990743-G-A c.18C>T p.V6= Synonymous 1/15 - 1
17-7990743-G-C c.18C>G p.V6= Synonymous 1/15 - 1
17-7990743-G-T c.18C>A p.V6= Synonymous 1/15 - 1
17-7990743-TG-T c.18del p.R7Gfs*18 Frameshift 1/15 - 1
17-7990745-C-T c.16G>A p.V6I Missense 1/15 - 1
17-7990746-T-A c.15A>T p.K5N Missense 1/15 - 1
17-7990747-T-A c.14A>T p.K5I Missense 1/15 - 1
17-7990748-T-A c.13A>T p.K5* Nonsense 1/15 - 1
17-7990749-G-C c.12C>G p.Y4* Nonsense 1/15 - 1
17-7990749-G-T c.12C>A p.Y4* Nonsense 1/15 - 1
17-7990915-A-G c.-155T>C - 5-UTRSNV 1/15 - 6