SCN5A sodium voltage-gated channel alpha subunit 5

Annotation transcript: NM_000335.5

1409 unique variant annotations were identified in 1292 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
3-38589666-T-TCCCTCCTTTTTCCTACTCTCTTCTC c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG - 3-UTRInsertion 28/28 - 2
3-38589666-T-TCCCTCCTTTTTCCTAGTCTCTTCTC c.*2145_*2146insGAGAAGAGACTAGGAAAAAGGAGGG - 3-UTRInsertion 28/28 - 2
3-38589805-C-T c.*2007G>A - 3-UTRSNV 28/28 - 1
3-38590069-C-T c.*1743G>A - 3-UTRSNV 28/28 - 1
3-38590188-C-T c.*1624G>A - 3-UTRSNV 28/28 - 1
3-38590191-C-T c.*1621G>A - 3-UTRSNV 28/28 - 1
3-38590244-C-G c.*1568G>C - 3-UTRSNV 28/28 - 1
3-38590275-A-G c.*1537T>C - 3-UTRSNV 28/28 - 1
3-38590376-A-G c.*1436T>C - 3-UTRSNV 28/28 - 1
3-38590608-C-T c.*1204G>A - 3-UTRSNV 28/28 - 1
3-38590790-A-G c.*1022T>C - 3-UTRSNV 28/28 - 1
3-38590849-G-A c.*963C>T - 3-UTRSNV 28/28 - 3
3-38590850-A-C c.*962T>G - 3-UTRSNV 28/28 - 3
3-38590850-A-T c.*962T>A - 3-UTRSNV 28/28 - 3
3-38591059-G-A c.*753C>T - 3-UTRSNV 28/28 - 2
3-38591198-C-T c.*614G>A - 3-UTRSNV 28/28 - 1
3-38591684-G-A c.*128C>T - 3-UTRSNV 28/28 - 1
3-38591689-T-C c.*123A>G - 3-UTRSNV 28/28 - 2
3-38591817-C-G c.6043G>C p.V2015L Missense 28/28 - 1
3-38591817-C-T c.6043G>A p.V2015M Missense 28/28 - 1
3-38591827-AC-TT c.6032_6033delinsAA p.R2011Q Missense 28/28 - 1
3-38591828-CG-GC c.6031_6032delinsGC p.R2011A Missense 28/28 - 1
3-38591834-CT-GC c.6025_6026delinsGC p.R2009A Missense 28/28 - 3
3-38591847-G-C c.6013C>G p.P2005A Missense 28/28 - 7
3-38591847-G-T c.6013C>A p.P2005T Missense 28/28 - 4
3-38591851-G-C c.6009C>G p.F2003L Missense 28/28 - 1
3-38591851-G-T c.6009C>A p.F2003L Missense 28/28 - 1
3-38591853-A-C c.6007T>G p.F2003V Missense 28/28 - 4
3-38591853-A-G c.6007T>C p.F2003L Missense 28/28 - 6
3-38591853-A-T c.6007T>A p.F2003I Missense 28/28 - 4
3-38591888-C-T c.5972G>A p.G1991E Missense 28/28 - 3
3-38591902-G-C c.5958C>G p.N1986K Missense 28/28 - 6
3-38591902-G-T c.5958C>A p.N1986K Missense 28/28 - 7
3-38591908-GCT-CTC c.5950_5952delinsGAG p.S1984E Missense 28/28 - 1
3-38591909-CT-GC c.5950_5951delinsGC p.S1984A Missense 28/28 - 1
3-38591911-G-A c.5949C>T p.T1983= Synonymous 28/28 - 1
3-38591933-TA-GC c.5926_5927delinsGC p.Y1976A Missense 28/28 - 1
3-38591943-G-C c.5917C>G p.P1973A Missense 28/28 - 1
3-38591945-AAGG-A c.5912_5914del p.S1971del InFrameDeletion 28/28 - 1
3-38591948-G-C c.5912C>G p.S1971C Missense 28/28 - 1
3-38591950-A-C c.5910T>G p.T1970= Synonymous 28/28 - 1
3-38591950-A-G c.5910T>C p.T1970= Synonymous 28/28 - 1
3-38591960-A-C c.5900T>G p.I1967S Missense 28/28 - 1
3-38591969-C-T c.5891G>A p.S1964N Missense 28/28 - 1
3-38591972-G-A c.5888C>T p.S1963F Missense 28/28 - 1
3-38591975-G-A c.5885C>T p.P1962L Missense 28/28 - 1
3-38591978-G-A c.5882C>T p.P1961L Missense 28/28 - 1
3-38591985-GGGGTCGGGAGAA-G c.5863_5874del p.F1955_P1958del InFrameDeletion 28/28 - 1
3-38591987-G-A c.5873C>T p.P1958L Missense 28/28 - 1
3-38591988-G-A c.5872C>T p.P1958S Missense 28/28 - 6
3-38591990-C-A c.5870G>T p.R1957L Missense 28/28 - 1
3-38591990-C-G c.5870G>C p.R1957P Missense 28/28 - 1
3-38591990-C-T c.5870G>A p.R1957Q Missense 28/28 - 1
3-38591991-G-A c.5869C>T p.R1957* Nonsense 28/28 - 2
3-38592012-C-A c.5848G>T p.V1950L Missense 28/28 - 3
3-38592012-C-T c.5848G>A p.V1950M Missense 28/28 - 2
3-38592016-G-A c.5844C>T p.A1948= Synonymous 28/28 - 1
3-38592018-C-T c.5842G>A p.A1948T Missense 28/28 - 1
3-38592019-G-A c.5841C>T p.I1947= Synonymous 28/28 - 1
3-38592037-CAG-C c.5822_5823del p.P1941Rfs*12 Frameshift 28/28 - 1
3-38592048-C-T c.5812G>A p.E1938K Missense 28/28 - 3
3-38592051-C-T c.5809G>A p.E1937K Missense 28/28 - 1
3-38592053-G-A c.5807C>T p.S1936F Missense 28/28 - 1
3-38592054-A-C c.5806T>G p.S1936A Missense 28/28 - 1
3-38592060-C-T c.5800G>A p.G1934S Missense 28/28 - 1
3-38592061-GCT-CTC c.5797_5799delinsGAG p.S1933E Missense 28/28 - 1
3-38592062-CT-GC c.5797_5798delinsGC p.S1933A Missense 28/28 - 1
3-38592069-C-T c.5791G>A p.A1931T Missense 28/28 - 1
3-38592078-G-C c.5782C>G p.R1928G Missense 28/28 - 1
3-38592084-G-A c.5776C>T p.L1926F Missense 28/28 - 1
3-38592085-G-C c.5775C>G p.F1925L Missense 28/28 - 1
3-38592085-G-T c.5775C>A p.F1925L Missense 28/28 - 1
3-38592087-A-G c.5773T>C p.F1925L Missense 28/28 - 1
3-38592089-G-A c.5771C>T p.S1924F Missense 28/28 - 1
3-38592090-A-C c.5770T>G p.S1924A Missense 28/28 - 1
3-38592090-A-AG c.5769dup p.S1924Lfs*19 Frameshift 28/28 - 1
3-38592093-C-T c.5767G>A p.A1923T Missense 28/28 - 3
3-38592098-CTT-C c.5761_5762del p.K1921Afs*21 Frameshift 28/28 - 1
3-38592104-G-C c.5756C>G p.S1919C Missense 28/28 - 1
3-38592107-C-T c.5753G>A p.R1918H Missense 28/28 - 4
3-38592121-CCT-ACA c.5737_5739delinsTGT p.R1913C Missense 28/28 - 1
3-38592121-CCT-ATG c.5737_5739delinsCAT p.R1913H Missense 28/28 - 9
3-38592122-C-T c.5738G>A p.R1913K Missense 28/28 - 1
3-38592137-T-C c.5723A>G p.Q1908R Missense 28/28 - 1
3-38592138-G-A c.5722C>T p.Q1908* Nonsense 28/28 - 1
3-38592149-G-A c.5711C>T p.A1904V Missense 28/28 - 2
3-38592152-G-A c.5708C>T p.S1903L Missense 28/28 - 1
3-38592157-CTC-GTT c.5701_5703delinsAAC p.E1901N Missense 28/28 - 1
3-38592159-C-G c.5701G>C p.E1901Q Missense 28/28 - 8
3-38592159-C-T c.5701G>A p.E1901K Missense 28/28 - 1
3-38592169-G-A c.5691C>T p.R1897= Synonymous 28/28 - 1
3-38592169-G-C c.5691C>G p.R1897= Synonymous 28/28 - 1
3-38592169-GCG-CCA c.5689_5691delinsTGG p.R1897W Missense 28/28 - 7
3-38592169-G-T c.5691C>A p.R1897= Synonymous 28/28 - 1
3-38592170-C-T c.5690G>A p.R1897H Missense 28/28 - 1
3-38592171-G-A c.5689C>T p.R1897C Missense 28/28 - 4
3-38592174-G-A c.5686C>T p.R1896W Missense 28/28 - 1
3-38592174-G-C c.5686C>G p.R1896G Missense 28/28 - 1
3-38592183-T-G c.5677A>C p.T1893P Missense 28/28 - 1
3-38592183-TG-T c.5676del p.T1893Pfs*28 Frameshift 28/28 - 1
3-38592197-TA-GC c.5662_5663delinsGC p.Y1888A Missense 28/28 - 1
3-38592229-CT-GA c.5630_5631delinsTC p.K1877I Missense 28/28 - 1
3-38592234-C-CCAT c.5625_5626insATG p.E1875_E1876insM InFrameInsertion 28/28 - 1
3-38592274-CCC-ACA c.5584_5586delinsTGT p.G1862C Missense 28/28 - 1
3-38592290-G-A c.5570C>T p.T1857I Missense 28/28 - 3
3-38592322-G-GTCA c.5537_5538insTGA p.R1846_I1847insD InFrameInsertion 28/28 - 1
3-38592329-C-G c.5531G>C p.G1844A Missense 28/28 - 1
3-38592337-C-A c.5523G>T p.M1841I Missense 28/28 - 1
3-38592337-C-G c.5523G>C p.M1841I Missense 28/28 - 1
3-38592337-C-T c.5523G>A p.M1841I Missense 28/28 - 1
3-38592338-A-G c.5522T>C p.M1841T Missense 28/28 - 3
3-38592356-A-G c.5504T>C p.I1835T Missense 28/28 - 7
3-38592386-C-T c.5474G>A p.R1825H Missense 28/28 - 3
3-38592387-G-A c.5473C>T p.R1825C Missense 28/28 - 1
3-38592389-A-G c.5471T>C p.L1824P Missense 28/28 - 1
3-38592393-GGCTC-G c.5464_5467del p.E1822Hfs*10 Frameshift 28/28 - 1
3-38592403-G-A c.5457C>T p.A1819= Synonymous 28/28 - 1
3-38592405-C-T c.5455G>A p.A1819T Missense 28/28 - 1
3-38592406-A-G c.5454T>C p.D1818= Synonymous 28/28 - 26
3-38592408-C-T c.5452G>A p.D1818N Missense 28/28 - 1
3-38592431-TA-GC c.5428_5429delinsGC p.Y1810A Missense 28/28 - 1
3-38592440-AACTG-A c.5416_5419del p.Q1806Lfs*26 Frameshift 28/28 - 1
3-38592477-C-T c.5383G>A p.E1795K Missense 28/28 - 1
3-38592479-T-C c.5381A>G p.Y1794C Missense 28/28 - 1
3-38592480-A-T c.5380T>A p.Y1794N Missense 28/28 - 1
3-38592493-GTC-CTT c.5365_5367delinsAAG p.D1789K Missense 28/28 - 1
3-38592501-C-T c.5359G>A p.E1787K Missense 28/28 - 1
3-38592506-A-T c.5354T>A p.L1785Q Missense 28/28 - 1
3-38592511-C-T c.5349G>A p.E1783= Synonymous 28/28 - 1
3-38592513-C-A c.5347G>T p.E1783* Nonsense 28/28 - 1
3-38592513-C-T c.5347G>A p.E1783K Missense 28/28 - 2
3-38592521-T-C c.5339A>G p.E1780G Missense 28/28 - 1
3-38592531-C-T c.5329G>A p.A1777T Missense 28/28 - 1
3-38592534-C-T c.5326G>A p.V1776M Missense 28/28 - 1
3-38592539-A-G c.5321T>C p.F1774S Missense 28/28 - 1
3-38592551-A-G c.5309T>C p.I1770T Missense 28/28 - 1
3-38592551-A-T c.5309T>A p.I1770N Missense 28/28 - 1
3-38592551-AT-CA c.5308_5309delinsTG p.I1770C Missense 28/28 - 2
3-38592552-T-A c.5308A>T p.I1770F Missense 28/28 - 1
3-38592571-GAC-CAT c.5287_5289delinsATG p.V1763M Missense 28/28 - 26
3-38592572-AC-CA c.5287_5288delinsTG p.V1763C Missense 28/28 - 1
3-38592573-C-G c.5287G>C p.V1763L Missense 28/28 - 2
3-38592576-C-A c.5284G>T p.V1762L Missense 28/28 - 1
3-38592576-C-T c.5284G>A p.V1762M Missense 28/28 - 1
3-38592583-GAA-CTT c.5275_5277delinsAAG p.F1759K Missense 28/28 - 1
3-38592584-AA-GC c.5275_5276delinsGC p.F1759A Missense 28/28 - 15
3-38592590-GA-G c.5270del p.I1757Tfs*29 Frameshift 28/28 - 1
3-38592593-AT-CA c.5266_5267delinsTG p.I1756C Missense 28/28 - 2
3-38592593-AT-GC c.5266_5267delinsGC p.I1756A Missense 28/28 - 1
3-38592595-G-T c.5265C>A p.I1755= Synonymous 28/28 - 1
3-38592610-G-A c.5250C>T p.F1750= Synonymous 28/28 - 1
3-38592611-AA-GC c.5248_5249delinsGC p.F1750A Missense 28/28 - 1
3-38592613-G-A c.5247C>T p.L1749= Synonymous 28/28 - 1
3-38592613-G-C c.5247C>G p.L1749= Synonymous 28/28 - 1
3-38592613-G-T c.5247C>A p.L1749= Synonymous 28/28 - 1
3-38592618-T-C c.5242A>G p.I1748V Missense 28/28 - 1
3-38592621-C-T c.5239G>A p.G1747S Missense 28/28 - 1
3-38592632-C-T c.5228G>A p.S1743N Missense 28/28 - 2
3-38592639-A-G c.5221T>C p.C1741R Missense 28/28 - 1
3-38592644-C-G c.5216G>C p.G1739A Missense 28/28 - 1
3-38592641-T-TC c.5218dup p.D1740Gfs*48 Frameshift 28/28 - 1
3-38592671-G-T c.5189C>A p.T1730N Missense 28/28 - 1
3-38592686-G-A c.5174C>T p.P1725L Missense 28/28 - 3
3-38592689-G-A c.5171C>T p.P1724L Missense 28/28 - 1
3-38592719-CC-GT c.5140_5141delinsAC p.G1714T Missense 28/28 - 1
3-38592731-G-A c.5129C>T p.A1710V Missense 28/28 - 2
3-38592734-G-A c.5126C>T p.S1709L Missense 28/28 - 5
3-38592736-CG-GT c.5123_5124delinsAC p.T1708N Missense 28/28 - 1
3-38592744-T-C c.5116A>G p.I1706V Missense 28/28 - 1
3-38592749-A-G c.5111T>C p.F1704S Missense 28/28 - 1
3-38592757-C-A c.5103G>T p.L1701= Synonymous 28/28 - 1
3-38592758-A-G c.5102T>C p.L1701P Missense 28/28 - 1
3-38592771-C-T c.5089G>A p.A1697T Missense 28/28 - 1
3-38592793-G-A c.5067C>T p.D1689= Synonymous 28/28 - 1
3-38592795-C-T c.5065G>A p.D1689N Missense 28/28 - 1
3-38592796-G-A c.5064C>T p.D1688= Synonymous 28/28 - 1
3-38592796-G-T c.5064C>A p.D1688E Missense 28/28 - 1
3-38592801-T-TGCGGCC c.5058_5059insGGCCGC p.G1686_I1687insGR InFrameInsertion 28/28 - 1
3-38592806-G-A c.5054C>T p.A1685V Missense 28/28 - 1
3-38592806-G-T c.5054C>A p.A1685D Missense 28/28 - 1
3-38592813-A-G c.5047T>C p.W1683R Missense 28/28 - 1
3-38592813-A-T c.5047T>A p.W1683R Missense 28/28 - 1
3-38592840-C-G c.5020G>C p.G1674R Missense 28/28 - 1
3-38592847-G-A c.5013C>T p.S1671= Synonymous 28/28 - 1
3-38592850-G-A c.5010C>T p.Y1670= Synonymous 28/28 - 1
3-38592860-A-T c.5000T>A p.M1667K Missense 28/28 - 1
3-38592882-C-G c.4978G>C p.G1660R Missense 28/28 - 1
3-38592882-C-T c.4978G>A p.G1660R Missense 28/28 - 1
3-38592885-T-C c.4975A>G p.I1659V Missense 28/28 - 2
3-38592913-GA-TT c.4946_4947delinsAA p.L1649Q Missense 28/28 - 2
3-38592923-A-C c.4937T>G p.L1646R Missense 28/28 - 1
3-38592932-C-A c.4928G>T p.R1643L Missense 28/28 - 1
3-38592932-C-T c.4928G>A p.R1643H Missense 28/28 - 1
3-38592936-T-C c.4924A>G p.I1642V Missense 28/28 - 1
3-38592944-G-A c.4916C>T p.A1639V Missense 28/28 - 1
3-38592947-C-G c.4913G>C p.G1638A Missense 28/28 - 2
3-38592968-C-T c.4892G>A p.R1631H Missense 28/28 - 1
3-38592969-G-A c.4891C>T p.R1631C Missense 28/28 - 1
3-38592978-G-A c.4882C>T p.R1628* Nonsense 28/28 - 1
3-38592978-G-C c.4882C>G p.R1628G Missense 28/28 - 1
3-38592980-G-C c.4880C>G p.A1627G Missense 28/28 - 1
3-38592986-C-A c.4874G>T p.R1625L Missense 28/28 - 1
3-38592986-C-G c.4874G>C p.R1625P Missense 28/28 - 2
3-38592986-C-T c.4874G>A p.R1625H Missense 28/28 - 2
3-38592996-G-A c.4864C>T p.R1622* Nonsense 28/28 - 1
3-38593004-G-A c.4856C>T p.T1619M Missense 28/28 - 2
3-38593004-G-T c.4856C>A p.T1619K Missense 28/28 - 2
3-38593009-G-A c.4851C>T p.S1617= Synonymous 28/28 - 1
3-38593012-G-A c.4848C>T p.F1616= Synonymous 28/28 - 1
3-38593015-G-A c.4845C>T p.F1615= Synonymous 28/28 - 1
3-38593393-T-C c.4811-344A>G - IntronicSNV - 27/27 22
3-38593943-T-C c.4811-894A>G - IntronicSNV - 27/27 2
3-38594973-T-A c.4810+797A>T - IntronicSNV - 27/27 5
3-38594973-T-G c.4810+797A>C - IntronicSNV - 27/27 5
3-38595769-C-T c.4810+1G>A - IntronicSNV - 27/27 1
3-38595770-C-T c.4810G>A p.G1604S Missense 27/28 - 2
3-38595773-C-T c.4807G>A p.V1603M Missense 27/28 - 1
3-38595789-AAC-CAT c.4789_4791delinsATG p.V1597M Missense 27/28 - 2
3-38595791-C-T c.4789G>A p.V1597I Missense 27/28 - 1
3-38595794-C-G c.4786G>C p.V1596L Missense 27/28 - 1
3-38595794-C-T c.4786G>A p.V1596M Missense 27/28 - 1
3-38595797-A-T c.4783T>A p.F1595I Missense 27/28 - 1
3-38595823-A-C c.4757T>G p.F1586C Missense 27/28 - 1
3-38595833-G-A c.4747C>T p.H1583Y Missense 27/28 - 3
3-38595836-G-A c.4744C>T p.R1582C Missense 27/28 - 1
3-38595836-G-T c.4744C>A p.R1582S Missense 27/28 - 1
3-38595865-C-T c.4715G>A p.G1572D Missense 27/28 - 1
3-38595872-A-G c.4708T>C p.F1570L Missense 27/28 - 1
3-38595878-CCA-C c.4700_4701del p.V1567Gfs*220 Frameshift 27/28 - 1
3-38595889-A-G c.4691T>C p.L1564P Missense 27/28 - 1
3-38595902-C-CG c.4677_4678insC p.A1560Rfs*228 Frameshift 27/28 - 1
3-38595928-T-A c.4652A>T p.Q1551L Missense 27/28 - 1
3-38595928-T-C c.4652A>G p.Q1551R Missense 27/28 - 1
3-38595932-C-G c.4648G>C p.D1550H Missense 27/28 - 1
3-38596016-TC-T c.4564del p.D1522Tfs*3 Frameshift 27/28 - 1
3-38596018-A-T c.4562T>A p.F1521Y Missense 27/28 - 1
3-38596021-A-G c.4559T>C p.I1520T Missense 27/28 - 1
3-38596021-A-T c.4559T>A p.I1520K Missense 27/28 - 1
3-38596032-G-C c.4548C>G p.Y1516* Nonsense 27/28 - 1
3-38596032-G-T c.4548C>A p.Y1516* Nonsense 27/28 - 1
3-38597152-G-A c.4534C>T p.P1512S Missense 26/28 - 3
3-38597154-C-A c.4532G>T p.R1511L Missense 26/28 - 1
3-38597155-G-A c.4531C>T p.R1511W Missense 26/28 - 3
3-38597158-GGGATGGGCTT-G c.4519_4528del p.K1507Hfs*4 Frameshift 26/28 - 1
3-38597159-GGATGGGCTT-G c.4519_4527del p.K1507_I1509del InFrameDeletion 26/28 - 1
3-38597170-G-A c.4516C>T p.Q1506* Nonsense 26/28 - 2
3-38597170-G-T c.4516C>A p.Q1506K Missense 26/28 - 1
3-38597173-G-A c.4513C>T p.P1505S Missense 26/28 - 1
3-38597176-T-C c.4510A>G p.K1504E Missense 26/28 - 1
3-38597178-TT-GG c.4507_4508delinsCC p.K1503P Missense 26/28 - 1
3-38597188-G-C c.4498C>G p.L1500V Missense 26/28 - 1
3-38597196-A-G c.4490T>C p.M1497T Missense 26/28 - 1
3-38597205-TA-AG c.4480_4481delinsCT p.Y1494L Missense 26/28 - 1
3-38597205-TA-GC c.4480_4481delinsGC p.Y1494A Missense 26/28 - 1
3-38597206-A-T c.4480T>A p.Y1494N Missense 26/28 - 7
3-38597208-T-C c.4478A>G p.Y1493C Missense 26/28 - 1
3-38597212-T-C c.4474A>G p.K1492E Missense 26/28 - 2
3-38597219-C-A c.4467G>T p.E1489D Missense 26/28 - 3
3-38597219-C-G c.4467G>C p.E1489D Missense 26/28 - 2
3-38597220-T-G c.4466A>C p.E1489A Missense 26/28 - 1
3-38597227-T-G c.4459A>C p.T1487P Missense 26/28 - 1
3-38597230-TGAA-T c.4453_4455del p.F1485del InFrameDeletion 26/28 - 1
3-38597243-GC-CT c.4442_4443delinsAG p.G1481E Missense 26/28 - 4
3-38597244-C-A c.4442G>T p.G1481V Missense 26/28 - 2
3-38597939-T-C c.4427A>G p.K1476R Missense 25/28 - 1
3-38597938-CT-C c.4427del p.K1476Rfs*4 Frameshift 25/28 - 1
3-38597942-T-G c.4424A>C p.Q1475P Missense 25/28 - 2
3-38597951-A-C c.4415T>G p.F1472C Missense 25/28 - 2
3-38597951-A-G c.4415T>C p.F1472S Missense 25/28 - 1
3-38597963-A-AC c.4402_4403insG p.I1468Sfs*3 Frameshift 25/28 - 1
3-38597978-A-C c.4388T>G p.L1463R Missense 25/28 - 1
3-38597983-CAG-GAT c.4381_4383delinsATC p.L1461I Missense 25/28 - 1
3-38597999-C-T c.4367G>A p.G1456E Missense 25/28 - 1
3-38598014-A-G c.4352T>C p.I1451T Missense 25/28 - 1
3-38598020-AA-GC c.4345_4346delinsGC p.F1449A Missense 25/28 - 1
3-38598021-A-C c.4345T>G p.F1449V Missense 25/28 - 2
3-38598021-A-G c.4345T>C p.F1449L Missense 25/28 - 1
3-38598026-A-T c.4340T>A p.I1447N Missense 25/28 - 1
3-38598047-T-C c.4319A>G p.E1440G Missense 25/28 - 1
3-38598052-C-CT c.4313dup p.W1439Vfs*32 Frameshift 25/28 - 1
3-38598054-G-A c.4312C>T p.Q1438* Nonsense 25/28 - 1
3-38598061-GCTC-G c.4303_4305del p.E1435del InFrameDeletion 25/28 - 1
3-38598335-C-T c.4297-266G>A - IntronicSNV - 24/27 1
3-38598606-C-A c.4296+116G>T - IntronicSNV - 24/27 6
3-38598606-C-T c.4296+116G>A - IntronicSNV - 24/27 6
3-38598669-A-G c.4296+53T>C - IntronicSNV - 24/27 2
3-38598722-C-A c.4296G>T p.G1432= Synonymous 24/28 - 1
3-38598723-C-T c.4295G>A p.G1432E Missense 24/28 - 1
3-38598725-C-T c.4293G>A p.R1431= Synonymous 24/28 - 1
3-38598733-C-T c.4285G>A p.D1429N Missense 24/28 - 1
3-38598735-A-G c.4283T>C p.V1428A Missense 24/28 - 1
3-38598736-C-A c.4282G>T p.V1428L Missense 24/28 - 5
3-38598739-C-A c.4279G>T p.A1427S Missense 24/28 - 5
3-38598742-C-A c.4276G>T p.A1426S Missense 24/28 - 1
3-38598759-C-A c.4259G>T p.W1420L Missense 24/28 - 1
3-38598764-TTT-ACA c.4252_4254delinsTGT p.K1418C Missense 24/28 - 1
3-38599037-G-A c.4243-262C>T - IntronicSNV - 23/27 7
3-38601644-CAG-AAA c.4234_4236delinsTTT p.L1412F Missense 23/28 - 1
3-38601646-G-A c.4234C>T p.L1412= Synonymous 23/28 - 1
3-38601649-G-A c.4231C>T p.L1411F Missense 23/28 - 1
3-38601655-G-A c.4225C>T p.L1409= Synonymous 23/28 - 1
3-38601661-C-T c.4219G>A p.G1407R Missense 23/28 - 1
3-38601664-C-G c.4216G>C p.A1406P Missense 23/28 - 1
3-38601664-C-T c.4216G>A p.A1406T Missense 23/28 - 1
3-38601665-C-A c.4215G>T p.G1405= Synonymous 23/28 - 1
3-38601665-C-T c.4215G>A p.G1405= Synonymous 23/28 - 1
3-38601667-C-G c.4213G>C p.G1405R Missense 23/28 - 3
3-38601667-C-T c.4213G>A p.G1405R Missense 23/28 - 4
3-38601670-C-G c.4210G>C p.V1404L Missense 23/28 - 1
3-38601670-C-T c.4210G>A p.V1404M Missense 23/28 - 1
3-38601690-AC-TA c.4189_4190delinsTA p.V1397* Nonsense 23/28 - 2
3-38601709-C-T c.4171G>A p.E1391K Missense 23/28 - 2
3-38601747-T-G c.4133A>C p.N1378T Missense 23/28 - 1
3-38601748-T-G c.4132A>C p.N1378H Missense 23/28 - 1
3-38601751-C-T c.4129G>A p.V1377M Missense 23/28 - 1
3-38601831-A-C c.4049T>G p.M1350R Missense 23/28 - 1
3-38601835-T-A c.4045A>T p.I1349F Missense 23/28 - 1
3-38601850-A-G c.4030T>C p.W1344R Missense 23/28 - 1
3-38601865-C-G c.4015G>C p.V1339L Missense 23/28 - 3
3-38601865-C-T c.4015G>A p.V1339I Missense 23/28 - 4
3-38601868-G-C c.4012C>G p.L1338V Missense 23/28 - 2
3-38601880-T-C c.4000A>G p.M1334V Missense 23/28 - 1
3-38601892-T-G c.3988A>C p.I1330L Missense 23/28 - 1
3-38601895-C-T c.3985G>A p.A1329T Missense 23/28 - 1
3-38601898-C-T c.3982G>A p.G1328S Missense 23/28 - 1
3-38601912-A-C c.3968T>G p.V1323G Missense 23/28 - 3
3-38601920-C-T c.3961-1G>A - IntronicSNV - 22/27 1
3-38603069-C-G c.3960+837G>C - IntronicSNV - 22/27 1
3-38603904-A-G c.3960+2T>C - IntronicSNV - 22/27 1
3-38603913-C-A c.3953G>T p.G1318V Missense 22/28 - 5
3-38603913-C-G c.3953G>C p.G1318A Missense 22/28 - 1
3-38603943-C-T c.3923G>A p.R1308H Missense 22/28 - 1
3-38603944-G-A c.3922C>T p.R1308C Missense 22/28 - 1
3-38603947-G-A c.3919C>T p.L1307F Missense 22/28 - 3
3-38603958-G-A c.3908C>T p.T1303M Missense 22/28 - 5
3-38603961-C-T c.3905G>A p.R1302Q Missense 22/28 - 1
3-38603975-G-GT c.3890_3891insA p.I1298Hfs*20 Frameshift 22/28 - 1
3-38603976-G-A c.3890C>T p.P1297L Missense 22/28 - 2
3-38603991-A-G c.3875T>C p.F1292S Missense 22/28 - 1
3-38604008-CAC-GAT c.3856_3858delinsATC p.V1286I Missense 22/28 - 1
3-38604008-C-T c.3858G>A p.V1286= Synonymous 22/28 - 1
3-38604011-C-T c.3855G>A p.L1285= Synonymous 22/28 - 1
3-38604028-C-A c.3838G>T p.V1280F Missense 22/28 - 1
3-38605732-G-C c.3838-1704C>G - IntronicSNV - 21/27 1
3-38606714-T-C c.3837+1186A>G - IntronicSNV - 21/27 2
3-38607078-T-A c.3837+822A>T - IntronicSNV - 21/27 1
3-38607078-T-G c.3837+822A>C - IntronicSNV - 21/27 1
3-38607468-A-G c.3837+432T>C - IntronicSNV - 21/27 1
3-38607871-T-A c.3837+29A>T - IntronicSNV - 21/27 1
3-38607899-C-T c.3837+1G>A - IntronicSNV - 21/27 1
3-38607902-C-T c.3835G>A p.D1279N Missense 21/28 - 1
3-38607905-C-T c.3832G>A p.V1278I Missense 21/28 - 1
3-38607917-C-A c.3820G>T p.D1274Y Missense 21/28 - 2
3-38607917-C-T c.3820G>A p.D1274N Missense 21/28 - 3
3-38607939-G-A c.3798C>T p.F1266= Synonymous 21/28 - 1
3-38607943-T-C c.3794A>G p.Y1265C Missense 21/28 - 1
3-38607954-G-A c.3783C>T p.G1261= Synonymous 21/28 - 1
3-38607956-C-T c.3781G>A p.G1261S Missense 21/28 - 3
3-38607957-G-A c.3780C>T p.Y1260= Synonymous 21/28 - 1
3-38607961-G-T c.3776C>A p.A1259D Missense 21/28 - 1
3-38607975-CAG-AAA c.3760_3762delinsTTT p.L1254F Missense 21/28 - 1
3-38607992-A-G c.3745T>C p.F1249L Missense 21/28 - 2
3-38608000-G-A c.3737C>T p.T1246I Missense 21/28 - 1
3-38608005-C-A c.3732G>T p.M1244I Missense 21/28 - 1
3-38608005-C-T c.3732G>A p.M1244I Missense 21/28 - 1
3-38608009-T-G c.3728A>C p.K1243T Missense 21/28 - 1
3-38608013-C-T c.3724G>A p.D1242N Missense 21/28 - 2
3-38608022-C-G c.3715G>C p.E1239Q Missense 21/28 - 1
3-38608024-A-G c.3713T>C p.L1238P Missense 21/28 - 1
3-38608040-T-A c.3697A>T p.T1233S Missense 21/28 - 1
3-38608041-C-T c.3696G>A p.K1232= Synonymous 21/28 - 1
3-38608044-C-A c.3693G>T p.R1231= Synonymous 21/28 - 1
3-38608044-C-G c.3693G>C p.R1231= Synonymous 21/28 - 1
3-38608044-C-T c.3693G>A p.R1231= Synonymous 21/28 - 1
3-38608046-G-T c.3691C>A p.R1231= Synonymous 21/28 - 1
3-38608049-C-T c.3688G>A p.E1230K Missense 21/28 - 1
3-38608064-C-T c.3673G>A p.D1225N Missense 21/28 - 2
3-38609218-A-C c.3664-1145T>G - IntronicSNV - 20/27 1
3-38615316-C-T c.3663+1472G>A - IntronicSNV - 20/27 1
3-38616798-C-A c.3653G>T p.S1218I Missense 20/28 - 3
3-38616870-C-G c.3581G>C p.R1194P Missense 20/28 - 1
3-38616870-C-T c.3581G>A p.R1194H Missense 20/28 - 1
3-38616876-C-T c.3575G>A p.R1192Q Missense 20/28 - 18
3-38616878-C-T c.3573G>A p.W1191* Nonsense 20/28 - 4
3-38616879-C-T c.3572G>A p.W1191* Nonsense 20/28 - 3
3-38616902-T-A c.3549A>T p.T1183= Synonymous 20/28 - 1
3-38616902-T-C c.3549A>G p.T1183= Synonymous 20/28 - 1
3-38616902-T-G c.3549A>C p.T1183= Synonymous 20/28 - 1
3-38616905-G-A c.3546C>T p.T1182= Synonymous 20/28 - 1
3-38616908-G-A c.3543C>T p.D1181= Synonymous 20/28 - 1
3-38616915-G-A c.3536C>T p.A1179V Missense 20/28 - 2
3-38616918-CA-GC c.3532_3533delinsGC p.C1178A Missense 20/28 - 1
3-38616931-G-A c.3520C>T p.R1174C Missense 20/28 - 1
3-38617126-A-G c.3509-184T>C - IntronicSNV - 19/27 1
3-38617126-A-T c.3509-184T>A - IntronicSNV - 19/27 1
3-38618168-C-CT c.3491dup p.D1165Gfs*5 Frameshift 19/28 - 1
3-38618200-G-A c.3460C>T p.P1154S Missense 19/28 - 1
3-38618268-G-A c.3392C>T p.P1131L Missense 19/28 - 2
3-38620833-A-C c.3379T>G p.C1127G Missense 18/28 - 1
3-38620841-G-A c.3371C>T p.A1124V Missense 18/28 - 1
3-38620866-G-A c.3346C>T p.Q1116* Nonsense 18/28 - 1
3-38620875-C-T c.3337G>A p.D1113N Missense 18/28 - 1
3-38620891-GGC-CAT c.3319_3321delinsATG p.A1107M Missense 18/28 - 1
3-38620893-C-A c.3319G>T p.A1107S Missense 18/28 - 1
3-38620896-C-A c.3316G>T p.E1106* Nonsense 18/28 - 1
3-38620896-C-T c.3316G>A p.E1106K Missense 18/28 - 1
3-38620904-G-T c.3308C>A p.S1103Y Missense 18/28 - 88
3-38620907-G-A c.3305C>T p.S1102F Missense 18/28 - 27
3-38620907-G-T c.3305C>A p.S1102Y Missense 18/28 - 56
3-38620910-G-A c.3302C>T p.A1101V Missense 18/28 - 1
3-38620911-C-T c.3301G>A p.A1101T Missense 18/28 - 1
3-38620923-C-A c.3289G>T p.V1097L Missense 18/28 - 1
3-38620923-C-T c.3289G>A p.V1097M Missense 18/28 - 1
3-38620928-C-T c.3284G>A p.S1095N Missense 18/28 - 3
3-38620936-CCT-ACA c.3274_3276delinsTGT p.R1092C Missense 18/28 - 1
3-38620946-G-A c.3266C>T p.P1089L Missense 18/28 - 4
3-38620946-G-T c.3266C>A p.P1089Q Missense 18/28 - 4
3-38620949-G-A c.3263C>T p.P1088L Missense 18/28 - 1
3-38620962-C-G c.3250G>C p.G1084R Missense 18/28 - 1
3-38620962-C-T c.3250G>A p.G1084S Missense 18/28 - 4
3-38620964-C-T c.3248G>A p.G1083D Missense 18/28 - 1
3-38621237-C-G c.3229-254G>C - IntronicSNV - 17/27 8
3-38622428-G-C c.3222C>G p.S1074R Missense 17/28 - 2
3-38622428-G-T c.3222C>A p.S1074R Missense 17/28 - 2
3-38622430-T-G c.3220A>C p.S1074R Missense 17/28 - 2
3-38622436-C-A c.3214G>T p.E1072* Nonsense 17/28 - 1
3-38622444-G-A c.3206C>T p.T1069M Missense 17/28 - 1
3-38622455-G-A c.3195C>T p.N1065= Synonymous 17/28 - 1
3-38622460-C-T c.3190G>A p.E1064K Missense 17/28 - 2
3-38622457-TCTC-T c.3190_3192del p.E1064del InFrameDeletion 17/28 - 1
3-38622467-T-C c.3183A>G p.E1061= Synonymous 17/28 - 20
3-38622467-T-G c.3183A>C p.E1061D Missense 17/28 - 7
3-38622475-G-A c.3175C>T p.Q1059* Nonsense 17/28 - 2
3-38622484-T-C c.3166A>G p.T1056A Missense 17/28 - 1
3-38622486-T-C c.3164A>G p.D1055G Missense 17/28 - 2
3-38622489-G-T c.3161C>A p.S1054* Nonsense 17/28 - 1
3-38622493-C-A c.3157G>T p.E1053* Nonsense 17/28 - 2
3-38622493-C-T c.3157G>A p.E1053K Missense 17/28 - 53
3-38622498-A-G c.3152T>C p.V1051A Missense 17/28 - 1
3-38622529-C-T c.3121G>A p.D1041N Missense 17/28 - 1
3-38622540-C-A c.3110G>T p.G1037V Missense 17/28 - 2
3-38622565-C-T c.3085G>A p.E1029K Missense 17/28 - 1
3-38622570-C-G c.3080G>C p.R1027P Missense 17/28 - 1
3-38622570-C-T c.3080G>A p.R1027Q Missense 17/28 - 2
3-38622573-G-T c.3077C>A p.T1026K Missense 17/28 - 1
3-38622582-C-G c.3068G>C p.R1023P Missense 17/28 - 2
3-38622582-C-T c.3068G>A p.R1023H Missense 17/28 - 7
3-38622583-G-A c.3067C>T p.R1023C Missense 17/28 - 3
3-38622589-G-A c.3061C>T p.P1021S Missense 17/28 - 1
3-38622598-T-C c.3052A>G p.K1018E Missense 17/28 - 1
3-38622603-G-A c.3047C>T p.T1016M Missense 17/28 - 1
3-38622607-C-T c.3043G>A p.E1015K Missense 17/28 - 1
3-38622610-G-A c.3040C>T p.P1014S Missense 17/28 - 1
3-38622617-C-T c.3033G>A p.P1011= Synonymous 17/28 - 1
3-38622618-G-A c.3032C>T p.P1011L Missense 17/28 - 2
3-38622619-G-A c.3031C>T p.P1011S Missense 17/28 - 1
3-38622628-G-A c.3022C>T p.P1008S Missense 17/28 - 3
3-38622630-G-A c.3020C>T p.T1007I Missense 17/28 - 1
3-38622636-A-G c.3014T>C p.I1005T Missense 17/28 - 1
3-38622640-A-G c.3010T>C p.C1004R Missense 17/28 - 5
3-38622637-TGCAGCTGG-T c.3005_3012del p.P1002Hfs*25 Frameshift 17/28 - 1
3-38622646-G-A c.3004C>T p.P1002S Missense 17/28 - 1
3-38622647-C-A c.3003G>T p.L1001= Synonymous 17/28 - 1
3-38622647-C-G c.3003G>C p.L1001= Synonymous 17/28 - 1
3-38622647-C-T c.3003G>A p.L1001= Synonymous 17/28 - 1
3-38622649-G-A c.3001C>T p.L1001= Synonymous 17/28 - 1
3-38622651-T-A c.2999A>T p.Q1000L Missense 17/28 - 1
3-38622654-CC-AG c.2995_2996delinsCT p.G999L Missense 17/28 - 1
3-38622657-T-C c.2993A>G p.Q998R Missense 17/28 - 1
3-38622660-G-T c.2990C>A p.A997D Missense 17/28 - 2
3-38622661-C-A c.2989G>T p.A997S Missense 17/28 - 10
3-38622661-C-T c.2989G>A p.A997T Missense 17/28 - 7
3-38622666-A-G c.2984T>C p.L995P Missense 17/28 - 1
3-38622667-G-A c.2983C>T p.L995F Missense 17/28 - 1
3-38622673-C-T c.2977G>A p.A993T Missense 17/28 - 2
3-38622674-G-A c.2976C>T p.P992= Synonymous 17/28 - 1
3-38622675-G-A c.2975C>T p.P992L Missense 17/28 - 1
3-38622680-C-T c.2970G>A p.Q990= Synonymous 17/28 - 1
3-38622688-G-A c.2962C>T p.R988W Missense 17/28 - 3
3-38622693-C-T c.2957G>A p.R986Q Missense 17/28 - 3
3-38622702-C-T c.2948G>A p.G983D Missense 17/28 - 2
3-38622706-A-G c.2944T>C p.C982R Missense 17/28 - 3
3-38622707-G-T c.2943C>A p.C981* Nonsense 17/28 - 1
3-38622708-C-A c.2942G>T p.C981F Missense 17/28 - 3
3-38622708-CA-GC c.2941_2942delinsGC p.C981A Missense 17/28 - 1
3-38622716-C-T c.2934G>A p.W978* Nonsense 17/28 - 1
3-38622717-C-T c.2933G>A p.W978* Nonsense 17/28 - 1
3-38622726-C-G c.2924G>C p.R975P Missense 17/28 - 1
3-38622727-G-A c.2923C>T p.R975W Missense 17/28 - 5
3-38622728-CTT-GTC c.2920_2922delinsGAC p.K974D Missense 17/28 - 1
3-38622739-G-A c.2911C>T p.R971C Missense 17/28 - 1
3-38622742-G-A c.2908C>T p.L970= Synonymous 17/28 - 1
3-38622745-C-A c.2905G>T p.G969C Missense 17/28 - 1
3-38622756-C-A c.2894G>T p.R965L Missense 17/28 - 1
3-38622756-C-T c.2894G>A p.R965H Missense 17/28 - 4
3-38622757-G-A c.2893C>T p.R965C Missense 17/28 - 13
3-38622772-G-T c.2878C>A p.Q960K Missense 17/28 - 1
3-38622783-A-T c.2867T>A p.M956K Missense 17/28 - 1
3-38622787-C-A c.2863G>T p.E955* Nonsense 17/28 - 1
3-38622788-TCT-ACA c.2860_2862delinsTGT p.R954C Missense 17/28 - 1
3-38622783-ATC-A c.2865_2866del p.E955Dfs*74 Frameshift 17/28 - 1
3-38622825-AA-GC c.2824_2825delinsGC p.F942A Missense 17/28 - 1
3-38622825-A-T c.2825T>A p.F942Y Missense 17/28 - 1
3-38622826-A-G c.2824T>C p.F942L Missense 17/28 - 1
3-38622828-GA-TT c.2821_2822delinsAA p.S941N Missense 17/28 - 6
3-38622828-G-C c.2822C>G p.S941C Missense 17/28 - 1
3-38622831-CT-AA c.2818_2819delinsTT p.S940F Missense 17/28 - 1
3-38622833-GAG-CAT c.2815_2817delinsATG p.L939M Missense 17/28 - 1
3-38622834-A-G c.2816T>C p.L939P Missense 17/28 - 2
3-38622835-G-C c.2815C>G p.L939V Missense 17/28 - 1
3-38622846-A-G c.2804T>C p.L935P Missense 17/28 - 1
3-38622848-G-C c.2802C>G p.F934L Missense 17/28 - 1
3-38623690-T-G c.2788-828A>C - IntronicSNV - 16/27 1
3-38624253-T-C c.2788-1391A>G - IntronicSNV - 16/27 16
3-38624343-A-G c.2788-1481T>C - IntronicSNV - 16/27 1
3-38625709-A-T c.2787+1473T>A - IntronicSNV - 16/27 1
3-38626065-C-A c.2787+1117G>T - IntronicSNV - 16/27 1
3-38627186-A-G c.2783T>C p.L928P Missense 16/28 - 2
3-38627187-G-A c.2782C>T p.L928F Missense 16/28 - 1
3-38627188-G-C c.2781C>G p.N927K Missense 16/28 - 1
3-38627188-G-T c.2781C>A p.N927K Missense 16/28 - 1
3-38627189-T-C c.2780A>G p.N927S Missense 16/28 - 2
3-38627199-C-T c.2770G>A p.V924I Missense 16/28 - 2
3-38627212-G-C c.2757C>G p.F919L Missense 16/28 - 1
3-38627212-G-T c.2757C>A p.F919L Missense 16/28 - 1
3-38627214-A-G c.2755T>C p.F919L Missense 16/28 - 1
3-38627219-A-C c.2750T>G p.L917R Missense 16/28 - 1
3-38627226-A-G c.2743T>C p.C915R Missense 16/28 - 1
3-38627228-A-C c.2741T>G p.L914* Nonsense 16/28 - 1
3-38627228-A-T c.2741T>A p.L914* Nonsense 16/28 - 1
3-38627234-T-C c.2735A>G p.Q912R Missense 16/28 - 1
3-38627240-G-A c.2729C>T p.S910L Missense 16/28 - 6
3-38627268-C-T c.2701G>A p.E901K Missense 16/28 - 5
3-38627276-T-G c.2693A>C p.E898A Missense 16/28 - 1
3-38627279-C-T c.2690G>A p.G897E Missense 16/28 - 1
3-38627282-C-G c.2687G>C p.C896S Missense 16/28 - 1
3-38627283-A-T c.2686T>A p.C896S Missense 16/28 - 1
3-38627291-C-A c.2678G>T p.R893L Missense 16/28 - 1
3-38627291-C-T c.2678G>A p.R893H Missense 16/28 - 7
3-38627292-G-A c.2677C>T p.R893C Missense 16/28 - 4
3-38627295-A-T c.2674T>A p.F892I Missense 16/28 - 5
3-38627300-A-G c.2669T>C p.I890T Missense 16/28 - 6
3-38627311-A-C c.2658T>G p.H886Q Missense 16/28 - 1
3-38627311-A-T c.2658T>A p.H886Q Missense 16/28 - 2
3-38627312-T-G c.2657A>C p.H886P Missense 16/28 - 3
3-38627313-G-A c.2656C>T p.H886Y Missense 16/28 - 1
3-38627326-C-A c.2643G>T p.M881I Missense 16/28 - 1
3-38627326-C-G c.2643G>C p.M881I Missense 16/28 - 1
3-38627326-C-T c.2643G>A p.M881I Missense 16/28 - 1
3-38627329-G-C c.2640C>G p.H880Q Missense 16/28 - 1
3-38627329-G-T c.2640C>A p.H880Q Missense 16/28 - 1
3-38627331-G-A c.2638C>T p.H880Y Missense 16/28 - 1
3-38627334-A-G c.2635T>C p.W879R Missense 16/28 - 1
3-38627334-A-T c.2635T>A p.W879R Missense 16/28 - 1
3-38627335-GCG-CTT c.2632_2634delinsAAG p.R878K Missense 16/28 - 1
3-38627336-C-T c.2633G>A p.R878H Missense 16/28 - 4
3-38627337-G-A c.2632C>T p.R878C Missense 16/28 - 21
3-38627341-CAG-GAT c.2626_2628delinsATC p.L876I Missense 16/28 - 1
3-38627345-A-T c.2624T>A p.L875Q Missense 16/28 - 1
3-38627346-G-A c.2623C>T p.L875= Synonymous 16/28 - 1
3-38627357-CT-AG c.2611_2612inv p.S871L Missense 16/28 - 1
3-38627361-C-G c.2608G>C p.D870H Missense 16/28 - 1
3-38627370-C-G c.2599G>C p.E867Q Missense 16/28 - 1
3-38627385-CAA-C c.2582_2583del p.F861Wfs*90 Frameshift 16/28 - 2
3-38627390-A-G c.2579T>C p.L860P Missense 16/28 - 1
3-38627395-GCATGCCCACCACAGCAAAGATGAACACGATGATGGCTAGCACCAGTGTCAGGTTCCCCA-G c.2516_2574del p.L839Pfs*93 SpliceAcceptorDeletion 16/28 - 1
3-38627397-T-A c.2572A>T p.M858L Missense 16/28 - 2
3-38627397-T-G c.2572A>C p.M858L Missense 16/28 - 1
3-38627399-C-T c.2570G>A p.G857D Missense 16/28 - 1
3-38627409-CA-C c.2559del p.F853Lfs*16 Frameshift 16/28 - 1
3-38627416-G-T c.2553C>A p.F851L Missense 16/28 - 2
3-38627416-G-C c.2553C>G p.F851L Missense 16/28 - 1
3-38627418-A-G c.2551T>C p.F851L Missense 16/28 - 1
3-38627417-A-AAC c.2550_2551dup p.F851Cfs*19 Frameshift 16/28 - 1
3-38627421-C-T c.2548G>A p.V850M Missense 16/28 - 1
3-38627425-GAT-CTC c.2542_2544delinsGAG p.I848E Missense 16/28 - 1
3-38627426-A-G c.2543T>C p.I848T Missense 16/28 - 5
3-38627427-T-A c.2542A>T p.I848F Missense 16/28 - 1
3-38627432-A-C c.2537T>G p.L846R Missense 16/28 - 2
3-38627442-T-C c.2527A>G p.T843A Missense 16/28 - 1
3-38627446-G-C c.2523C>G p.N841K Missense 16/28 - 1
3-38627451-C-G c.2518G>C p.G840R Missense 16/28 - 1
3-38627451-C-T c.2518G>A p.G840R Missense 16/28 - 1
3-38627453-A-G c.2516T>C p.L839P Missense 16/28 - 5
3-38627469-T-C c.2500A>G p.N834D Missense 16/28 - 1
3-38627472-C-T c.2497G>A p.G833R Missense 16/28 - 2
3-38627485-G-A c.2484C>T p.L828= Synonymous 16/28 - 2
3-38627487-G-A c.2482C>T p.L828F Missense 16/28 - 2
3-38627487-G-C c.2482C>G p.L828V Missense 16/28 - 1
3-38627503-C-A c.2466G>T p.W822C Missense 16/28 - 1
3-38627503-C-G c.2466G>C p.W822C Missense 16/28 - 1
3-38627503-C-T c.2466G>A p.W822* Nonsense 16/28 - 16
3-38627504-C-T c.2465G>A p.W822* Nonsense 16/28 - 14
3-38627514-CCAGCTTGAAGACCCG-C c.2440_2454del p.R814_L818del SpliceAcceptorDeletion 16/28 15/27 1
3-38627520-T-C c.2449A>G p.K817E Missense 16/28 - 2
3-38627522-A-T c.2447T>A p.F816Y Missense 16/28 - 4
3-38627528-C-T c.2441G>A p.R814Q Missense 16/28 - 12
3-38627529-G-A c.2440C>T p.R814W Missense 16/28 - 21
3-38627537-G-T c.2437-5C>A - IntronicSNV - 15/27 2
3-38627629-A-G c.2437-97T>C - IntronicSNV - 15/27 2
3-38627629-A-T c.2437-97T>A - IntronicSNV - 15/27 2
3-38627825-A-G c.2437-293T>C - IntronicSNV - 15/27 1
3-38627930-G-C c.2437-398C>G - IntronicSNV - 15/27 1
3-38628642-A-G c.2436+249T>C - IntronicSNV - 15/27 1
3-38628661-C-A c.2436+230G>T - IntronicSNV - 15/27 2
3-38628879-C-T c.2436+12G>A - IntronicSNV - 15/27 1
3-38628889-A-T c.2436+2T>A - IntronicSNV - 15/27 1
3-38628892-A-T c.2435T>A p.L812Q Missense 15/28 - 5
3-38628895-C-T c.2432G>A p.R811H Missense 15/28 - 12
3-38628896-G-A c.2431C>T p.R811C Missense 15/28 - 1
3-38628896-G-C c.2431C>G p.R811G Missense 15/28 - 1
3-38628896-G-T c.2431C>A p.R811S Missense 15/28 - 1
3-38628903-GC-TT c.2423_2424delinsAA p.R808Q Missense 15/28 - 1
3-38628904-C-G c.2423G>C p.R808P Missense 15/28 - 7
3-38628905-G-A c.2422C>T p.R808C Missense 15/28 - 1
3-38628907-CA-C c.2420del p.L807Rfs*19 Frameshift 15/28 - 1
3-38628912-CG-AC c.2414_2415delinsGT p.S805C Missense 15/28 - 4
3-38628919-TTGCTCAT-GA c.2401_2408delinsTC p.M801_N803delinsS MultiAAMissense 15/28 - 1
3-38628924-C-A c.2403G>T p.M801I Missense 15/28 - 1
3-38628924-C-G c.2403G>C p.M801I Missense 15/28 - 1
3-38628924-C-T c.2403G>A p.M801I Missense 15/28 - 1
3-38628926-T-C c.2401A>G p.M801V Missense 15/28 - 1
3-38628928-C-A c.2399G>T p.R800L Missense 15/28 - 4
3-38628928-CG-TC c.2398_2399delinsGA p.R800D Missense 15/28 - 1
3-38628938-C-T c.2389G>A p.G797S Missense 15/28 - 1
3-38628948-G-A c.2379C>T p.L793= Synonymous 15/28 - 1
3-38628950-G-A c.2377C>T p.L793F Missense 15/28 - 1
3-38628952-C-CT c.2374dup p.S792Kfs*160 Frameshift 15/28 - 2
3-38628962-C-T c.2365G>A p.V789I Missense 15/28 - 3
3-38628974-C-T c.2353G>A p.D785N Missense 15/28 - 2
3-38628982-T-G c.2345A>C p.N782T Missense 15/28 - 1
3-38628992-G-A c.2335C>T p.Q779* Nonsense 15/28 - 3
3-38628992-G-T c.2335C>A p.Q779K Missense 15/28 - 2
3-38628994-TG-T c.2332del p.Q778Nfs*24 Frameshift 15/28 - 1
3-38629007-TA-T c.2320del p.Y774Tfs*28 Frameshift 15/28 - 1
3-38629010-G-A c.2317C>T p.P773S Missense 15/28 - 1
3-38629013-C-T c.2314G>A p.D772N Missense 15/28 - 5
3-38629025-T-C c.2302A>G p.I768V Missense 15/28 - 1
3-38629036-A-C c.2291T>G p.M764R Missense 15/28 - 2
3-38629036-A-T c.2291T>A p.M764K Missense 15/28 - 1
3-38629052-T-A c.2275A>T p.I759F Missense 15/28 - 3
3-38629054-C-T c.2273G>A p.G758E Missense 15/28 - 2
3-38629056-CTGTG-C c.2268_2271del p.F756Lfs*8 Frameshift 15/28 - 1
3-38629479-T-C c.2263-415A>G - IntronicSNV - 14/27 1
3-38629767-A-C c.2263-703T>G - IntronicSNV - 14/27 1
3-38629814-G-A c.2263-750C>T - IntronicSNV - 14/27 1
3-38629814-G-C c.2263-750C>G - IntronicSNV - 14/27 1
3-38629864-C-G c.2263-800G>C - IntronicSNV - 14/27 1
3-38629864-C-T c.2263-800G>A - IntronicSNV - 14/27 1
3-38629866-C-A c.2263-802G>T - IntronicSNV - 14/27 1
3-38630182-G-A c.2263-1118C>T - IntronicSNV - 14/27 1
3-38630274-C-T c.2263-1210G>A - IntronicSNV - 14/27 1
3-38630511-T-C c.2263-1447A>G - IntronicSNV - 14/27 1
3-38631838-T-C c.2263-2774A>G - IntronicSNV - 14/27 1
3-38633071-C-T c.2263-4007G>A - IntronicSNV - 14/27 1
3-38633923-G-C c.2263-4859C>G - IntronicSNV - 14/27 34
3-38634142-C-A c.2262+5078G>T - IntronicSNV - 14/27 1
3-38639217-T-A c.2262+3A>T - IntronicSNV - 14/27 1
3-38639228-C-G c.2254G>C p.G752R Missense 14/28 - 5
3-38639228-C-T c.2254G>A p.G752R Missense 14/28 - 8
3-38639233-T-C c.2249A>G p.Q750R Missense 14/28 - 3
3-38639238-C-T c.2244G>A p.M748I Missense 14/28 - 1
3-38639246-C-T c.2236G>A p.E746K Missense 14/28 - 3
3-38639260-ATGT-A c.2219_2221del p.N740del InFrameDeletion 14/28 - 2
3-38639267-A-C c.2215T>G p.Y739D Missense 14/28 - 1
3-38639277-C-A c.2205G>T p.A735= Synonymous 14/28 - 1
3-38639277-C-G c.2205G>C p.A735= Synonymous 14/28 - 1
3-38639277-C-T c.2205G>A p.A735= Synonymous 14/28 - 1
3-38639278-G-A c.2204C>T p.A735V Missense 14/28 - 17
3-38639278-G-C c.2204C>G p.A735G Missense 14/28 - 1
3-38639278-G-T c.2204C>A p.A735E Missense 14/28 - 5
3-38639284-AA-GG c.2197_2198delinsCC p.F733P Missense 14/28 - 1
3-38639285-A-C c.2197T>G p.F733V Missense 14/28 - 1
3-38639288-G-C c.2194C>G p.L732V Missense 14/28 - 1
3-38639290-G-A c.2192C>T p.T731I Missense 14/28 - 2
3-38639295-TGAG-T c.2185_2187del p.L729del InFrameDeletion 14/28 - 3
3-38639300-C-T c.2182G>A p.V728I Missense 14/28 - 1
3-38639313-G-GA c.2168dup p.T724Hfs*21 Frameshift 14/28 - 1
3-38639320-A-G c.2162T>C p.L721P Missense 14/28 - 1
3-38639332-G-A c.2150C>T p.P717L Missense 14/28 - 2
3-38639341-A-G c.2141T>C p.V714A Missense 14/28 - 1
3-38639342-C-G c.2140G>C p.V714L Missense 14/28 - 1
3-38639356-C-A c.2126G>T p.G709V Missense 14/28 - 1
3-38639357-C-G c.2125G>C p.G709R Missense 14/28 - 1
3-38639362-T-G c.2120A>C p.K707T Missense 14/28 - 1
3-38639374-C-T c.2108G>A p.W703* Nonsense 14/28 - 1
3-38639379-C-A c.2103G>T p.P701= Synonymous 14/28 - 1
3-38639379-C-G c.2103G>C p.P701= Synonymous 14/28 - 1
3-38639379-C-T c.2103G>A p.P701= Synonymous 14/28 - 1
3-38639380-G-A c.2102C>T p.P701L Missense 14/28 - 2
3-38639390-C-A c.2092G>T p.E698* Nonsense 14/28 - 1
3-38639391-C-T c.2091G>A p.W697* Nonsense 14/28 - 3
3-38639392-C-T c.2090G>A p.W697* Nonsense 14/28 - 2
3-38639399-G-C c.2083C>G p.L695V Missense 14/28 - 1
3-38639408-G-T c.2074C>A p.Q692K Missense 14/28 - 6
3-38639416-C-T c.2066G>A p.R689H Missense 14/28 - 11
3-38639417-G-A c.2065C>T p.R689C Missense 14/28 - 2
3-38639421-C-T c.2061G>A p.W687* Nonsense 14/28 - 1
3-38639422-C-T c.2060G>A p.W687* Nonsense 14/28 - 1
3-38639431-G-A c.2051C>T p.P684L Missense 14/28 - 1
3-38639435-A-C c.2047T>G p.C683G Missense 14/28 - 1
3-38639435-A-G c.2047T>C p.C683R Missense 14/28 - 1
3-38639440-T-G c.2042A>C p.H681P Missense 14/28 - 7
3-38639443-C-T c.2039G>A p.R680H Missense 14/28 - 17
3-38640411-T-C c.2021A>G p.E674G Missense 13/28 - 1
3-38640414-A-G c.2018T>C p.L673P Missense 13/28 - 1
3-38640418-C-T c.2014G>A p.A672T Missense 13/28 - 2
3-38640419-G-C c.2013C>G p.S671R Missense 13/28 - 1
3-38640419-GCT-CTC c.2011_2013delinsGAG p.S671E Missense 13/28 - 1
3-38640419-G-T c.2013C>A p.S671R Missense 13/28 - 1
3-38640421-T-G c.2011A>C p.S671R Missense 13/28 - 1
3-38640420-CT-GC c.2011_2012delinsGC p.S671A Missense 13/28 - 1
3-38640421-T-A c.2011A>T p.S671C Missense 13/28 - 1
3-38640427-G-A c.2005C>T p.L669F Missense 13/28 - 1
3-38640431-G-A c.2001C>T p.S667= Synonymous 13/28 - 1
3-38640431-GCT-CTC c.1999_2001delinsGAG p.S667E Missense 13/28 - 1
3-38640432-C-T c.2000G>A p.S667N Missense 13/28 - 1
3-38640432-CT-GC c.1999_2000delinsGC p.S667A Missense 13/28 - 1
3-38640436-C-A c.1996G>T p.V666F Missense 13/28 - 1
3-38640442-T-C c.1990A>G p.S664G Missense 13/28 - 1
3-38640448-C-A c.1984G>T p.A662S Missense 13/28 - 1
3-38640451-G-A c.1981C>T p.R661W Missense 13/28 - 1
3-38640457-G-A c.1975C>T p.R659W Missense 13/28 - 1
3-38640461-TCC-ACA c.1969_1971delinsTGT p.G657C Missense 13/28 - 1
3-38640461-TCC-GCT c.1969_1971delinsAGC p.G657S Missense 13/28 - 1
3-38640463-C-G c.1969G>C p.G657R Missense 13/28 - 1
3-38640463-C-T c.1969G>A p.G657R Missense 13/28 - 1
3-38640465-G-A c.1967C>T p.P656L Missense 13/28 - 1
3-38640469-C-T c.1963G>A p.E655K Missense 13/28 - 4
3-38640472-C-A c.1960G>T p.E654* Nonsense 13/28 - 2
3-38640472-C-T c.1960G>A p.E654K Missense 13/28 - 2
3-38640480-TCTA-T c.1949_1951del p.V650del InFrameDeletion 13/28 - 1
3-38640489-G-A c.1943C>T p.P648L Missense 13/28 - 4
3-38640492-G-A c.1940C>T p.A647V Missense 13/28 - 1
3-38640492-G-T c.1940C>A p.A647D Missense 13/28 - 3
3-38640495-CT-C c.1937del p.Q646Rfs*5 Frameshift 13/28 - 1
3-38640495-T-C c.1937A>G p.Q646R Missense 13/28 - 1
3-38640495-TG-T c.1936del p.Q646Rfs*5 Frameshift 13/28 - 4
3-38640514-G-C c.1918C>G p.P640A Missense 13/28 - 1
3-38640517-C-G c.1915G>C p.G639R Missense 13/28 - 1
3-38640517-C-T c.1915G>A p.G639R Missense 13/28 - 1
3-38640520-C-T c.1912G>A p.G638S Missense 13/28 - 1
3-38640522-G-A c.1910C>T p.P637L Missense 13/28 - 1
3-38640531-G-A c.1901C>T p.S634L Missense 13/28 - 1
3-38640537-G-A c.1895C>T p.T632M Missense 13/28 - 2
3-38641134-A-C c.1891-593T>G - IntronicSNV - 12/27 1
3-38643529-T-C c.1890+1674A>G - IntronicSNV - 12/27 1
3-38645203-C-T c.1890G>A p.T630= Synonymous 12/28 - 1
3-38645204-G-A c.1889C>T p.T630M Missense 12/28 - 1
3-38645211-G-C c.1882C>G p.P628A Missense 12/28 - 1
3-38645213-G-A c.1880C>T p.P627L Missense 12/28 - 2
3-38645220-C-CT c.1872dup p.E625Rfs*96 Frameshift 12/28 - 1
3-38645233-GCG-CCA c.1858_1860delinsTGG p.R620W Missense 12/28 - 1
3-38645234-C-T c.1859G>A p.R620H Missense 12/28 - 11
3-38645235-G-A c.1858C>T p.R620C Missense 12/28 - 4
3-38645238-G-A c.1855C>T p.L619F Missense 12/28 - 12
3-38645241-G-A c.1852C>T p.L618F Missense 12/28 - 9
3-38645243-T-C c.1850A>G p.H617R Missense 12/28 - 1
3-38645247-T-A c.1846A>T p.S616C Missense 12/28 - 1
3-38645249-C-T c.1844G>A p.G615E Missense 12/28 - 17
3-38645252-G-A c.1841C>T p.P614L Missense 12/28 - 1
3-38645252-G-T c.1841C>A p.P614Q Missense 12/28 - 1
3-38645258-GT-AG c.1834_1835delinsCT p.T612L Missense 12/28 - 1
3-38645273-C-T c.1820G>A p.G607D Missense 12/28 - 1
3-38645288-G-T c.1805C>A p.S602* Nonsense 12/28 - 1
3-38645292-C-T c.1801G>A p.V601I Missense 12/28 - 1
3-38645294-A-T c.1799T>A p.V600E Missense 12/28 - 1
3-38645311-AGT-CTC c.1780_1782delinsGAG p.T594E Missense 12/28 - 4
3-38645313-T-C c.1780A>G p.T594A Missense 12/28 - 2
3-38645315-CT-GC c.1777_1778delinsGC p.S593A Missense 12/28 - 1
3-38645317-G-C c.1776C>G p.N592K Missense 12/28 - 3
3-38645317-G-T c.1776C>A p.N592K Missense 12/28 - 2
3-38645325-T-G c.1768A>C p.K590Q Missense 12/28 - 1
3-38645327-C-T c.1766G>A p.G589D Missense 12/28 - 3
3-38645328-C-T c.1765G>A p.G589S Missense 12/28 - 1
3-38645330-T-C c.1763A>G p.H588R Missense 12/28 - 8
3-38645331-GGAGGGC-G c.1756_1761del p.A586_L587del InFrameDeletion 12/28 - 1
3-38645338-G-A c.1755C>T p.H585= Synonymous 12/28 - 1
3-38645342-C-A c.1751G>T p.G584V Missense 12/28 - 1
3-38645343-C-T c.1750G>A p.G584S Missense 12/28 - 1
3-38645349-C-T c.1744G>A p.A582T Missense 12/28 - 1
3-38645350-C-T c.1743G>A p.S581= Synonymous 12/28 - 1
3-38645351-G-A c.1742C>T p.S581L Missense 12/28 - 1
3-38645358-C-G c.1735G>C p.G579R Missense 12/28 - 1
3-38645358-C-T c.1735G>A p.G579R Missense 12/28 - 2
3-38645359-G-A c.1734C>T p.P578= Synonymous 12/28 - 1
3-38645363-C-T c.1730G>A p.S577N Missense 12/28 - 1
3-38645373-C-G c.1720G>C p.G574R Missense 12/28 - 1
3-38645373-C-T c.1720G>A p.G574R Missense 12/28 - 1
3-38645371-TC-T c.1721del p.G574Dfs*49 Frameshift 12/28 - 1
3-38645376-G-A c.1717C>T p.Q573* Nonsense 12/28 - 2
3-38645376-G-C c.1717C>G p.Q573E Missense 12/28 - 6
3-38645378-G-A c.1715C>T p.A572V Missense 12/28 - 3
3-38645378-G-C c.1715C>G p.A572G Missense 12/28 - 1
3-38645378-GC-AA c.1714_1715delinsTT p.A572F Missense 12/28 - 2
3-38645378-G-T c.1715C>A p.A572D Missense 12/28 - 34
3-38645379-C-A c.1714G>T p.A572S Missense 12/28 - 2
3-38645380-ACT-CTC c.1711_1713delinsGAG p.S571E Missense 12/28 - 10
3-38645380-A-G c.1713T>C p.S571= Synonymous 12/28 - 1
3-38645381-C-A c.1712G>T p.S571I Missense 12/28 - 2
3-38645381-CT-GC c.1711_1712delinsGC p.S571A Missense 12/28 - 8
3-38645384-G-T c.1709C>A p.T570N Missense 12/28 - 2
3-38645388-G-A c.1705C>T p.R569W Missense 12/28 - 3
3-38645388-G-C c.1705C>G p.R569G Missense 12/28 - 2
3-38645387-C-CG c.1705dup p.R569Pfs*152 Frameshift 12/28 - 1
3-38645390-C-T c.1703G>A p.R568H Missense 12/28 - 2
3-38645391-G-A c.1702C>T p.R568C Missense 12/28 - 1
3-38645393-A-T c.1700T>A p.L567Q Missense 12/28 - 13
3-38645412-G-A c.1681C>T p.L561= Synonymous 12/28 - 2
3-38645418-T-C c.1675A>G p.T559A Missense 12/28 - 2
3-38645420-T-C c.1673A>G p.H558R Missense 12/28 - 207
3-38645420-TG-GT c.1672_1673delinsAC p.H558T Missense 12/28 - 1
3-38645420-TG-T c.1672del p.H558Tfs*65 Frameshift 12/28 - 1
3-38645430-C-A c.1663G>T p.E555* Nonsense 12/28 - 5
3-38645430-C-T c.1663G>A p.E555K Missense 12/28 - 1
3-38645436-C-A c.1657G>T p.E553* Nonsense 12/28 - 1
3-38645439-C-A c.1654G>T p.G552W Missense 12/28 - 1
3-38645439-C-G c.1654G>C p.G552R Missense 12/28 - 4
3-38645439-C-T c.1654G>A p.G552R Missense 12/28 - 1
3-38645441-G-A c.1652C>T p.A551V Missense 12/28 - 2
3-38645441-G-T c.1652C>A p.A551E Missense 12/28 - 1
3-38645442-C-T c.1651G>A p.A551T Missense 12/28 - 4
3-38645452-T-C c.1641A>G p.E547= Synonymous 12/28 - 1
3-38645456-T-C c.1637A>G p.D546G Missense 12/28 - 1
3-38645464-A-C c.1629T>G p.F543L Missense 12/28 - 1
3-38645464-A-T c.1629T>A p.F543L Missense 12/28 - 1
3-38645466-A-G c.1627T>C p.F543L Missense 12/28 - 1
3-38645467-ATC-CTT c.1624_1626delinsAAG p.D542K Missense 12/28 - 1
3-38645468-T-G c.1625A>C p.D542A Missense 12/28 - 1
3-38645489-C-T c.1604G>A p.R535Q Missense 12/28 - 13
3-38645490-G-A c.1603C>T p.R535* Nonsense 12/28 - 8
3-38645491-CCT-ACA c.1600_1602delinsTGT p.R534C Missense 12/28 - 2
3-38645492-CT-AG c.1600_1601inv p.R534L Missense 12/28 - 1
3-38645498-A-C c.1595T>G p.F532C Missense 12/28 - 4
3-38645496-GA-G c.1596del p.R533Afs*90 Frameshift 12/28 - 1
3-38645505-A-C c.1588T>G p.F530V Missense 12/28 - 1
3-38645506-A-G c.1587T>C p.I529= Synonymous 12/28 - 2
3-38645509-G-C c.1584C>G p.S528R Missense 12/28 - 1
3-38645509-G-T c.1584C>A p.S528R Missense 12/28 - 1
3-38645511-T-G c.1582A>C p.S528R Missense 12/28 - 1
3-38645510-CT-GC c.1582_1583delinsGC p.S528A Missense 12/28 - 3
3-38645511-T-A c.1582A>T p.S528C Missense 12/28 - 1
3-38645513-C-G c.1580G>C p.G527A Missense 12/28 - 1
3-38645514-C-G c.1579G>C p.G527R Missense 12/28 - 2
3-38645514-C-T c.1579G>A p.G527R Missense 12/28 - 4
3-38645516-C-T c.1577G>A p.R526H Missense 12/28 - 12
3-38645517-G-A c.1576C>T p.R526C Missense 12/28 - 1
3-38645518-G-A c.1575C>T p.S525= Synonymous 12/28 - 1
3-38645519-CT-AA c.1573_1574delinsTT p.S525F Missense 12/28 - 1
3-38645519-CT-GC c.1573_1574delinsGC p.S525A Missense 12/28 - 1
3-38645520-T-C c.1573A>G p.S525G Missense 12/28 - 1
3-38645522-G-T c.1571C>A p.S524Y Missense 12/28 - 19
3-38645526-G-A c.1567C>T p.R523C Missense 12/28 - 8
3-38645534-A-C c.1559T>G p.M520R Missense 12/28 - 1
3-38645535-T-C c.1558A>G p.M520V Missense 12/28 - 1
3-38645537-G-A c.1556C>T p.S519F Missense 12/28 - 2
3-38645542-CCT-ATG c.1549_1551delinsCAT p.R517H Missense 12/28 - 1
3-38645543-C-T c.1550G>A p.R517K Missense 12/28 - 1
3-38645545-GCT-CTC c.1546_1548delinsGAG p.S516E Missense 12/28 - 4
3-38645546-CT-GC c.1546_1547delinsGC p.S516A Missense 12/28 - 2
3-38645553-C-A c.1540G>T p.G514C Missense 12/28 - 12
3-38645555-C-G c.1538G>C p.R513P Missense 12/28 - 1
3-38645555-C-T c.1538G>A p.R513H Missense 12/28 - 2
3-38645556-G-A c.1537C>T p.R513C Missense 12/28 - 2
3-38645558-G-A c.1535C>T p.T512I Missense 12/28 - 9
3-38645571-G-A c.1522C>T p.H508Y Missense 12/28 - 1
3-38646227-C-T c.1511G>A p.R504K Missense 11/28 - 1
3-38646227-CT-TG c.1510_1511delinsCA p.R504Q Missense 11/28 - 1
3-38646236-T-C c.1502A>G p.D501G Missense 11/28 - 3
3-38646236-T-G c.1502A>C p.D501A Missense 11/28 - 1
3-38646237-C-G c.1501G>C p.D501H Missense 11/28 - 1
3-38646237-C-T c.1501G>A p.D501N Missense 11/28 - 1
3-38646242-G-A c.1496C>T p.S499L Missense 11/28 - 1
3-38646248-G-C c.1490C>G p.S497C Missense 11/28 - 1
3-38646255-G-A c.1483C>T p.P495S Missense 11/28 - 1
3-38646279-C-T c.1459G>A p.E487K Missense 11/28 - 1
3-38646281-G-C c.1457C>G p.T486S Missense 11/28 - 2
3-38646282-T-A c.1456A>T p.T486S Missense 11/28 - 1
3-38646282-T-C c.1456A>G p.T486A Missense 11/28 - 1
3-38646291-A-C c.1447T>G p.S483A Missense 11/28 - 1
3-38646296-C-T c.1442G>A p.R481Q Missense 11/28 - 1
3-38646297-G-A c.1441C>T p.R481W Missense 11/28 - 11
3-38646298-T-A c.1440A>T p.K480N Missense 11/28 - 1
3-38646298-T-G c.1440A>C p.K480N Missense 11/28 - 3
3-38646311-C-A c.1427G>T p.S476I Missense 11/28 - 1
3-38646313-T-G c.1425A>C p.R475S Missense 11/28 - 1
3-38646322-A-C c.1416T>G p.H472Q Missense 11/28 - 1
3-38646322-A-T c.1416T>A p.H472Q Missense 11/28 - 1
3-38646328-G-C c.1410C>G p.N470K Missense 11/28 - 6
3-38646328-G-T c.1410C>A p.N470K Missense 11/28 - 5
3-38646330-T-C c.1408A>G p.N470D Missense 11/28 - 1
3-38646331-T-A c.1407A>T p.V469= Synonymous 11/28 - 1
3-38646331-T-C c.1407A>G p.V469= Synonymous 11/28 - 1
3-38646331-T-G c.1407A>C p.V469= Synonymous 11/28 - 1
3-38646335-G-A c.1403C>T p.P468L Missense 11/28 - 1
3-38646338-G-T c.1400C>A p.A467D Missense 11/28 - 1
3-38646339-C-A c.1399G>T p.A467S Missense 11/28 - 1
3-38646353-T-G c.1385A>C p.E462A Missense 11/28 - 4
3-38646354-C-T c.1384G>A p.E462K Missense 11/28 - 4
3-38646355-C-A c.1383G>T p.L461F Missense 11/28 - 1
3-38646355-C-G c.1383G>C p.L461F Missense 11/28 - 1
3-38646357-A-C c.1381T>G p.L461V Missense 11/28 - 9
3-38646360-A-C c.1378T>G p.S460A Missense 11/28 - 2
3-38646362-C-G c.1376G>C p.S459T Missense 11/28 - 1
3-38646363-T-C c.1375A>G p.S459G Missense 11/28 - 1
3-38646366-G-A c.1372C>T p.R458C Missense 11/28 - 1
3-38646367-GGA-CTC c.1369_1371delinsGAG p.S457E Missense 11/28 - 1
3-38646372-C-A c.1366G>T p.V456L Missense 11/28 - 1
3-38646372-C-G c.1366G>C p.V456L Missense 11/28 - 1
3-38646392-GT-AC c.1345_1346inv p.T449V Missense 11/28 - 1
3-38646393-T-G c.1345A>C p.T449P Missense 11/28 - 1
3-38646423-C-T c.1339-24G>A - IntronicSNV - 10/27 1
3-38647440-A-T c.1338+2T>A - IntronicSNV - 10/27 1
3-38647441-C-A c.1338+1G>T - IntronicSNV - 10/27 1
3-38647444-C-T c.1336G>A p.E446K Missense 10/28 - 7
3-38647447-G-A c.1333C>T p.H445Y Missense 10/28 - 1
3-38647447-G-C c.1333C>G p.H445D Missense 10/28 - 5
3-38647449-T-G c.1331A>C p.E444A Missense 10/28 - 1
3-38647465-C-T c.1315G>A p.E439K Missense 10/28 - 2
3-38647467-A-G c.1313T>C p.M438T Missense 10/28 - 1
3-38647468-T-A c.1312A>T p.M438L Missense 10/28 - 1
3-38647470-G-A c.1310C>T p.A437V Missense 10/28 - 1
3-38647474-C-T c.1306G>A p.E436K Missense 10/28 - 1
3-38647478-G-A c.1302C>T p.F434= Synonymous 10/28 - 2
3-38647483-G-A c.1297C>T p.R433C Missense 10/28 - 2
3-38647488-T-C c.1292A>G p.E431G Missense 10/28 - 1
3-38647489-C-T c.1291G>A p.E431K Missense 10/28 - 1
3-38647494-T-G c.1286A>C p.E429A Missense 10/28 - 1
3-38647495-C-T c.1285G>A p.E429K Missense 10/28 - 1
3-38647498-C-T c.1282G>A p.E428K Missense 10/28 - 9
3-38647512-G-A c.1268C>T p.T423I Missense 10/28 - 1
3-38647515-G-T c.1265C>A p.A422D Missense 10/28 - 1
3-38647524-T-G c.1256A>C p.Q419P Missense 10/28 - 2
3-38647530-TC-CT c.1249_1250delinsAG p.E417R Missense 10/28 - 1
3-38647530-T-G c.1250A>C p.E417A Missense 10/28 - 1
3-38647533-T-C c.1247A>G p.Y416C Missense 10/28 - 2
3-38647542-G-T c.1238C>A p.A413E Missense 10/28 - 2
3-38647543-C-T c.1237G>A p.A413T Missense 10/28 - 2
3-38647545-AC-A c.1234del p.V412Sfs*58 Frameshift 10/28 - 2
3-38647549-C-T c.1231G>A p.V411M Missense 10/28 - 21
3-38647550-GGC-CCA c.1228_1230delinsTGG p.A410W Missense 10/28 - 4
3-38647553-CAG-ACA c.1225_1227delinsTGT p.L409C Missense 10/28 - 7
3-38647554-A-G c.1226T>C p.L409P Missense 10/28 - 12
3-38647554-AG-GA c.1225_1226delinsTC p.L409S Missense 10/28 - 1
3-38647554-AG-GC c.1225_1226delinsGC p.L409A Missense 10/28 - 1
3-38647555-G-C c.1225C>G p.L409V Missense 10/28 - 2
3-38647559-CAG-AAA c.1219_1221delinsTTT p.L407F Missense 10/28 - 1
3-38647562-G-C c.1218C>G p.N406K Missense 10/28 - 15
3-38647562-G-T c.1218C>A p.N406K Missense 10/28 - 16
3-38647563-T-C c.1217A>G p.N406S Missense 10/28 - 6
3-38647563-TT-CA c.1216_1217delinsTG p.N406C Missense 10/28 - 1
3-38647564-T-C c.1216A>G p.N406D Missense 10/28 - 1
3-38647565-TCACCAGGTAG-T c.1206_1215del p.F402Lfs*3 Frameshift 10/28 - 1
3-38647569-A-T c.1211T>A p.L404Q Missense 10/28 - 2
3-38647581-C-G c.1199G>C p.G400A Missense 10/28 - 8
3-38647582-C-T c.1198G>A p.G400R Missense 10/28 - 2
3-38647583-CAG-AAA c.1195_1197delinsTTT p.L399F Missense 10/28 - 1
3-38647585-G-A c.1195C>T p.L399= Synonymous 10/28 - 1
3-38647586-G-C c.1194C>G p.F398L Missense 10/28 - 1
3-38647586-G-T c.1194C>A p.F398L Missense 10/28 - 1
3-38647588-A-G c.1192T>C p.F398L Missense 10/28 - 1
3-38647590-A-G c.1190T>C p.I397T Missense 10/28 - 3
3-38647591-T-A c.1189A>T p.I397F Missense 10/28 - 1
3-38647591-T-C c.1189A>G p.I397V Missense 10/28 - 3
3-38647593-A-G c.1187T>C p.V396A Missense 10/28 - 2
3-38647593-A-T c.1187T>A p.V396D Missense 10/28 - 1
3-38647594-C-G c.1186G>C p.V396L Missense 10/28 - 4
3-38647598-C-A c.1182G>T p.M394I Missense 10/28 - 1
3-38647598-C-G c.1182G>C p.M394I Missense 10/28 - 1
3-38647598-C-T c.1182G>A p.M394I Missense 10/28 - 1
3-38647605-A-T c.1175T>A p.F392Y Missense 10/28 - 1
3-38647610-C-A c.1170G>T p.M390I Missense 10/28 - 1
3-38647610-C-G c.1170G>C p.M390I Missense 10/28 - 1
3-38647610-C-T c.1170G>A p.M390I Missense 10/28 - 1
3-38647613-G-C c.1167C>G p.Y389* Nonsense 10/28 - 2
3-38647613-G-T c.1167C>A p.Y389* Nonsense 10/28 - 2
3-38647623-C-T c.1157G>A p.G386E Missense 10/28 - 4
3-38647624-C-G c.1156G>C p.G386R Missense 10/28 - 2
3-38647624-C-T c.1156G>A p.G386R Missense 10/28 - 5
3-38647627-C-T c.1153G>A p.A385T Missense 10/28 - 3
3-38647642-G-T c.1141-3C>A - IntronicSNV - 9/27 5
3-38648062-C-T c.1140+98G>A - IntronicSNV - 9/27 4
3-38648158-A-G c.1140+2T>C - IntronicSNV - 9/27 1
3-38648165-G-A c.1135C>T p.Q379* Nonsense 9/28 - 1
3-38648167-T-A c.1133A>T p.Y378F Missense 9/28 - 1
3-38648173-C-A c.1127G>T p.R376L Missense 9/28 - 3
3-38648173-C-T c.1127G>A p.R376H Missense 9/28 - 13
3-38648174-G-A c.1126C>T p.R376C Missense 9/28 - 3
3-38648177-C-A c.1123G>T p.E375* Nonsense 9/28 - 2
3-38648178-C-T c.1122G>A p.W374* Nonsense 9/28 - 1
3-38648179-C-T c.1121G>A p.W374* Nonsense 9/28 - 1
3-38648180-A-C c.1120T>G p.W374G Missense 9/28 - 3
3-38648180-A-G c.1120T>C p.W374R Missense 9/28 - 1
3-38648182-C-A c.1118G>T p.C373F Missense 9/28 - 5
3-38648182-C-T c.1118G>A p.C373Y Missense 9/28 - 10
3-38648182-C-G c.1118G>C p.C373S Missense 9/28 - 2
3-38648183-A-T c.1117T>A p.C373S Missense 9/28 - 2
3-38648185-T-G c.1115A>C p.D372A Missense 9/28 - 1
3-38648189-G-A c.1111C>T p.Q371* Nonsense 9/28 - 3
3-38648189-G-C c.1111C>G p.Q371E Missense 9/28 - 1
3-38648191-G-A c.1109C>T p.T370M Missense 9/28 - 2
3-38648194-A-T c.1106T>A p.M369K Missense 9/28 - 5
3-38648199-GC-TT c.1100_1101delinsAA p.R367Q Missense 9/28 - 1
3-38648200-C-A c.1100G>T p.R367L Missense 9/28 - 7
3-38648200-C-T c.1100G>A p.R367H Missense 9/28 - 26
3-38648201-G-A c.1099C>T p.R367C Missense 9/28 - 7
3-38648201-G-C c.1099C>G p.R367G Missense 9/28 - 2
3-38648203-A-G c.1097T>C p.F366S Missense 9/28 - 1
3-38648224-G-C c.1076C>G p.A359G Missense 9/28 - 1
3-38648224-GC-TG c.1075_1076delinsCA p.A359H Missense 9/28 - 1
3-38648230-G-C c.1070C>G p.S357C Missense 9/28 - 2
3-38648234-C-A c.1066G>T p.D356Y Missense 9/28 - 1
3-38648234-C-T c.1066G>A p.D356N Missense 9/28 - 11
3-38648242-G-A c.1058C>T p.T353I Missense 9/28 - 11
3-38648245-T-C c.1055A>G p.Y352C Missense 9/28 - 1
3-38648248-C-A c.1052G>T p.G351V Missense 9/28 - 5
3-38648248-C-T c.1052G>A p.G351D Missense 9/28 - 3
3-38648252-G-C c.1048C>G p.H350D Missense 9/28 - 1
3-38648255-C-T c.1045G>A p.D349N Missense 9/28 - 4
3-38648263-T-A c.1037A>T p.E346V Missense 9/28 - 3
3-38648264-C-A c.1036G>T p.E346* Nonsense 9/28 - 2
3-38648264-C-T c.1036G>A p.E346K Missense 9/28 - 3
3-38648265-GC-CT c.1034_1035delinsAG p.G345E Missense 9/28 - 1
3-38648266-C-A c.1034G>T p.G345V Missense 9/28 - 1
3-38648266-C-G c.1034G>C p.G345A Missense 9/28 - 1
3-38648267-C-G c.1033G>C p.G345R Missense 9/28 - 1
3-38648269-G-A c.1031C>T p.A344V Missense 9/28 - 1
3-38648269-G-T c.1031C>A p.A344E Missense 9/28 - 1
3-38648274-TAG-AAA c.1024_1026delinsTTT p.L342F Missense 9/28 - 1
3-38648278-CA-GT c.1021_1022delinsAC p.C341T Missense 9/28 - 1
3-38648281-C-T c.1019G>A p.R340Q Missense 9/28 - 7
3-38648282-G-A c.1018C>T p.R340W Missense 9/28 - 2
3-38648282-G-C c.1018C>G p.R340G Missense 9/28 - 1
3-38648290-T-G c.1010A>C p.E337A Missense 9/28 - 1
3-38648293-G-A c.1007C>T p.P336L Missense 9/28 - 10
3-38648297-A-G c.1003T>C p.C335R Missense 9/28 - 4
3-38648821-C-T c.999-520G>A - IntronicSNV - 8/27 3
3-38649044-C-G c.998+598G>C - IntronicSNV - 8/27 2
3-38649044-C-T c.998+598G>A - IntronicSNV - 8/27 2
3-38649637-C-T c.998+5G>A - IntronicSNV - 8/27 1
3-38649641-C-A c.998+1G>T - IntronicSNV - 8/27 1
3-38649643-C-G c.997G>C p.G333R Missense 8/28 - 1
3-38649643-C-T c.997G>A p.G333R Missense 8/28 - 1
3-38649652-A-C c.988T>G p.S330A Missense 8/28 - 1
3-38649666-A-C c.974T>G p.L325R Missense 8/28 - 15
3-38649675-TC-CA c.964_965delinsTG p.D322C Missense 8/28 - 1
3-38649676-C-T c.964G>A p.D322N Missense 8/28 - 1
3-38649678-GA-AG c.961_962delinsCT p.S321L Missense 8/28 - 1
3-38649678-G-T c.962C>A p.S321Y Missense 8/28 - 1
3-38649681-G-T c.959C>A p.T320N Missense 8/28 - 2
3-38649682-T-C c.958A>G p.T320A Missense 8/28 - 1
3-38649685-C-T c.955G>A p.G319S Missense 8/28 - 5
3-38649689-C-A c.951G>T p.K317N Missense 8/28 - 3
3-38649689-C-G c.951G>C p.K317N Missense 8/28 - 3
3-38649696-A-G c.944T>C p.L315P Missense 8/28 - 2
3-38649904-A-C c.935-199T>G - IntronicSNV - 7/27 1
3-38651226-TG-T c.932del p.P311Qfs*32 Frameshift 7/28 - 1
3-38651233-C-T c.926G>A p.S309N Missense 7/28 - 1
3-38651234-T-C c.925A>G p.S309G Missense 7/28 - 1
3-38651243-G-A c.916C>T p.L306F Missense 7/28 - 1
3-38651256-C-T c.903G>A p.W301* Nonsense 7/28 - 1
3-38651261-C-T c.898G>A p.V300I Missense 7/28 - 2
3-38651267-C-T c.892G>A p.G298S Missense 7/28 - 18
3-38651268-G-A c.891C>T p.D297= Synonymous 7/28 - 1
3-38651273-C-T c.886G>A p.A296T Missense 7/28 - 1
3-38651279-C-T c.880G>A p.V294M Missense 7/28 - 4
3-38651284-C-G c.875G>C p.G292A Missense 7/28 - 1
3-38651285-C-T c.874G>A p.G292S Missense 7/28 - 3
3-38651286-G-A c.873C>T p.N291= Synonymous 7/28 - 1
3-38651287-T-A c.872A>T p.N291I Missense 7/28 - 1
3-38651288-T-G c.871A>C p.N291H Missense 7/28 - 1
3-38651292-G-A c.867C>T p.G289= Synonymous 7/28 - 1
3-38651293-C-T c.866G>A p.G289D Missense 7/28 - 1
3-38651294-C-G c.865G>C p.G289R Missense 7/28 - 1
3-38651294-C-T c.865G>A p.G289S Missense 7/28 - 2
3-38651303-C-A c.856G>T p.A286S Missense 7/28 - 1
3-38651306-T-C c.853A>G p.T285A Missense 7/28 - 1
3-38651314-C-T c.845G>A p.R282H Missense 7/28 - 16
3-38651315-G-A c.844C>T p.R282C Missense 7/28 - 2
3-38651315-G-C c.844C>G p.R282G Missense 7/28 - 1
3-38651320-C-T c.839G>A p.C280Y Missense 7/28 - 1
3-38651323-TT-GC c.835_836delinsGC p.K279A Missense 7/28 - 2
3-38651326-T-C c.833A>G p.H278R Missense 7/28 - 2
3-38651327-G-C c.832C>G p.H278D Missense 7/28 - 2
3-38651332-A-T c.827T>A p.L276Q Missense 7/28 - 2
3-38651334-G-C c.825C>G p.N275K Missense 7/28 - 3
3-38651334-G-T c.825C>A p.N275K Missense 7/28 - 3
3-38651351-G-C c.808C>G p.Q270E Missense 7/28 - 1
3-38651351-G-T c.808C>A p.Q270K Missense 7/28 - 3
3-38651356-C-T c.803G>A p.G268D Missense 7/28 - 2
3-38651360-T-G c.799A>C p.I267L Missense 7/28 - 1
3-38651362-A-G c.797T>C p.L266P Missense 7/28 - 1
3-38651372-C-T c.787G>A p.V263I Missense 7/28 - 1
3-38651386-A-G c.773T>C p.V258A Missense 7/28 - 1
3-38651391-GAG-CCA c.766_768delinsTGG p.L256W Missense 7/28 - 1
3-38651405-C-T c.754G>A p.D252N Missense 7/28 - 1
3-38651409-CA-AT c.749_750delinsAT p.L250H Missense 7/28 - 1
3-38651410-A-G c.749T>C p.L250P Missense 7/28 - 2
3-38651410-AG-CA c.748_749delinsTG p.L250W Missense 7/28 - 1
3-38651415-C-T c.744G>A p.K248= Synonymous 7/28 - 1
3-38651420-C-A c.739G>T p.V247L Missense 7/28 - 1
3-38651420-C-G c.739G>C p.V247L Missense 7/28 - 1
3-38651426-G-T c.733C>A p.Q245K Missense 7/28 - 3
3-38651441-C-T c.718G>A p.V240M Missense 7/28 - 14
3-38651442-G-A c.717C>T p.I239= Synonymous 7/28 - 1
3-38651442-G-C c.717C>G p.I239M Missense 7/28 - 1
3-38651444-T-C c.715A>G p.I239V Missense 7/28 - 2
3-38651451-CAG-GAT c.706_708delinsATC p.L236I Missense 7/28 - 1
3-38651452-A-C c.707T>G p.L236R Missense 7/28 - 2
3-38651452-A-G c.707T>C p.L236P Missense 7/28 - 1
3-38654693-T-C c.703+541A>G - IntronicSNV - 6/27 1
3-38655243-C-T c.694G>A p.V232I Missense 6/28 - 7
3-38655248-A-G c.689T>C p.I230T Missense 6/28 - 4
3-38655249-T-C c.688A>G p.I230V Missense 6/28 - 2
3-38655257-A-G c.680T>C p.L227P Missense 6/28 - 2
3-38655260-G-A c.677C>T p.A226V Missense 6/28 - 17
3-38655260-G-T c.677C>A p.A226D Missense 6/28 - 1
3-38655262-CCG-ACA c.673_675delinsTGT p.R225C Missense 6/28 - 2
3-38655263-C-G c.674G>C p.R225P Missense 6/28 - 19
3-38655263-CG-GC c.673_674delinsGC p.R225A Missense 6/28 - 1
3-38655263-C-T c.674G>A p.R225Q Missense 6/28 - 10
3-38655264-G-A c.673C>T p.R225W Missense 6/28 - 35
3-38655269-A-C c.668T>G p.V223G Missense 6/28 - 1
3-38655270-C-G c.667G>C p.V223L Missense 6/28 - 2
3-38655271-TC-AT c.665_666delinsAT p.R222H Missense 6/28 - 1
3-38655271-TCG-CCA c.664_666delinsTGG p.R222W Missense 6/28 - 5
3-38655271-TCG-GCT c.664_666delinsAGC p.R222S Missense 6/28 - 1
3-38655272-C-A c.665G>T p.R222L Missense 6/28 - 1
3-38655272-C-G c.665G>C p.R222P Missense 6/28 - 2
3-38655272-CG-TC c.664_665delinsGA p.R222E Missense 6/28 - 1
3-38655272-C-T c.665G>A p.R222Q Missense 6/28 - 51
3-38655273-G-A c.664C>T p.R222* Nonsense 6/28 - 6
3-38655273-G-C c.664C>G p.R222G Missense 6/28 - 1
3-38655275-A-G c.662T>C p.F221S Missense 6/28 - 1
3-38655278-G-A c.659C>T p.T220I Missense 6/28 - 38
3-38655280-GC-TT c.656_657delinsAA p.R219Q Missense 6/28 - 2
3-38655281-C-G c.656G>C p.R219P Missense 6/28 - 1
3-38655281-CG-GC c.655_656delinsGC p.R219A Missense 6/28 - 1
3-38655281-C-T c.656G>A p.R219H Missense 6/28 - 21
3-38655282-G-A c.655C>T p.R219C Missense 6/28 - 3
3-38655287-G-A c.650C>T p.A217V Missense 6/28 - 1
3-38655288-C-T c.649G>A p.A217T Missense 6/28 - 1
3-38655290-G-A c.647C>T p.S216L Missense 6/28 - 35
3-38655293-AC-CA c.643_644delinsTG p.V215C Missense 6/28 - 4
3-38655296-T-C c.641A>G p.N214S Missense 6/28 - 1
3-38655299-C-T c.638G>A p.G213D Missense 6/28 - 8
3-38655302-A-G c.635T>C p.L212P Missense 6/28 - 6
3-38655302-A-T c.635T>A p.L212Q Missense 6/28 - 1
3-38655306-C-T c.631G>A p.D211N Missense 6/28 - 1
3-38655308-A-G c.629T>C p.V210A Missense 6/28 - 5
3-38655320-TG-T c.617del p.T206Kfs*22 Frameshift 6/28 - 1
3-38655321-GTGT-G c.614_616del p.Y205_T206delinsS MultiAAMissense 6/28 - 1
3-38655514-G-A c.612-189C>T - IntronicSNV - 5/27 1
3-38655522-G-A c.612-197C>T - IntronicSNV - 5/27 2
3-38655522-G-T c.612-197C>A - IntronicSNV - 5/27 2
3-38656033-A-G c.612-708T>C - IntronicSNV - 5/27 5
3-38657899-A-T c.612-2574T>A - IntronicSNV - 5/27 9
3-38658508-T-C c.612-3183A>G - IntronicSNV - 5/27 1
3-38659275-G-A c.611+3059C>T - IntronicSNV - 5/27 1
3-38659275-G-T c.611+3059C>A - IntronicSNV - 5/27 1
3-38662333-C-G c.611+1G>C - IntronicSNV - 5/27 1
3-38662333-C-T c.611+1G>A - IntronicSNV - 5/27 1
3-38662334-G-A c.611C>T p.A204V Missense 5/28 - 4
3-38662334-G-T c.611C>A p.A204E Missense 5/28 - 2
3-38662349-CT-GC c.595_596delinsGC p.S199A Missense 5/28 - 1
3-38662355-T-C c.590A>G p.D197G Missense 5/28 - 1
3-38662356-C-G c.589G>C p.D197H Missense 5/28 - 1
3-38662357-C-T c.588G>A p.L196= Synonymous 5/28 - 1
3-38662360-CC-AT c.584_585delinsAT p.W195Y Missense 5/28 - 1
3-38662362-CA-C c.583del p.W195Gfs*6 Frameshift 5/28 - 1
3-38662376-C-A c.569G>T p.R190L Missense 5/28 - 1
3-38662376-C-T c.569G>A p.R190Q Missense 5/28 - 6
3-38662377-G-A c.568C>T p.R190W Missense 5/28 - 1
3-38662377-G-C c.568C>G p.R190G Missense 5/28 - 2
3-38662385-G-A c.560C>T p.T187I Missense 5/28 - 10
3-38662385-G-C c.560C>G p.T187S Missense 5/28 - 2
3-38662386-T-A c.559A>T p.T187S Missense 5/28 - 2
3-38662386-T-C c.559A>G p.T187A Missense 5/28 - 1
3-38662391-G-A c.554C>T p.A185V Missense 5/28 - 2
3-38662392-C-T c.553G>A p.A185T Missense 5/28 - 3
3-38662401-A-G c.544T>C p.C182R Missense 5/28 - 1
3-38662403-AA-GG c.541_542delinsCC p.F181P Missense 5/28 - 1
3-38662409-C-G c.536G>C p.R179P Missense 5/28 - 1
3-38662409-C-T c.536G>A p.R179Q Missense 5/28 - 4
3-38662410-G-A c.535C>T p.R179* Nonsense 5/28 - 4
3-38662412-G-C c.533C>G p.A178G Missense 5/28 - 3
3-38662413-C-G c.532G>C p.A178P Missense 5/28 - 1
3-38662413-C-T c.532G>A p.A178T Missense 5/28 - 1
3-38662417-A-C c.528T>G p.I176M Missense 5/28 - 1
3-38662420-C-A c.525G>T p.K175N Missense 5/28 - 2
3-38662420-C-G c.525G>C p.K175N Missense 5/28 - 2
3-38662434-C-T c.511G>A p.E171K Missense 5/28 - 1
3-38662436-A-G c.509T>C p.F170S Missense 5/28 - 1
3-38662438-GG-CC c.506_507inv p.T169R Missense 5/28 - 1
3-38662438-GG-CT c.506_507delinsAG p.T169K Missense 5/28 - 1
3-38662442-T-A c.503A>T p.Y168F Missense 5/28 - 2
3-38662449-C-T c.496G>A p.A166T Missense 5/28 - 2
3-38662453-G-A c.492C>T p.F164= Synonymous 5/28 - 1
3-38662459-G-A c.486C>T p.Y162= Synonymous 5/28 - 1
3-38663892-C-G c.481G>C p.E161Q Missense 4/28 - 3
3-38663892-C-T c.481G>A p.E161K Missense 4/28 - 25
3-38663894-A-G c.479T>C p.V160A Missense 4/28 - 1
3-38663896-A-C c.477T>G p.Y159* Nonsense 4/28 - 1
3-38663896-A-T c.477T>A p.Y159* Nonsense 4/28 - 1
3-38663905-C-T c.468G>A p.W156* Nonsense 4/28 - 23
3-38663906-C-T c.467G>A p.W156* Nonsense 4/28 - 22
3-38663912-G-T c.461C>A p.P154Q Missense 4/28 - 1
3-38663918-T-A c.455A>T p.D152V Missense 4/28 - 1
3-38663920-G-A c.453C>T p.H151= Synonymous 4/28 - 1
3-38663924-TG-GT c.448_449delinsAC p.Q150T Missense 4/28 - 1
3-38663927-G-A c.446C>T p.A149V Missense 4/28 - 1
3-38663927-G-T c.446C>A p.A149D Missense 4/28 - 1
3-38663937-C-T c.436G>A p.V146M Missense 4/28 - 3
3-38663943-TG-T c.429del p.N144Tfs*57 Frameshift 4/28 - 2
3-38663951-A-T c.422T>A p.I141N Missense 4/28 - 1
3-38663952-T-C c.421A>G p.I141V Missense 4/28 - 14
3-38663959-C-A c.414G>T p.M138I Missense 4/28 - 4
3-38663959-C-G c.414G>C p.M138I Missense 4/28 - 4
3-38663959-C-T c.414G>A p.M138I Missense 4/28 - 5
3-38663962-G-C c.411C>G p.I137M Missense 4/28 - 1
3-38663966-A-G c.407T>C p.L136P Missense 4/28 - 2
3-38663971-G-A c.402C>T p.N134= Synonymous 4/28 - 1
3-38663978-AG-CA c.394_395delinsTG p.L132C Missense 4/28 - 1
3-38663980-C-G c.393G>C p.S131= Synonymous 4/28 - 1
3-38663981-G-A c.393-1C>T - IntronicSNV - 3/27 1
3-38663985-G-A c.393-5C>T - IntronicSNV - 3/27 1
3-38663985-G-T c.393-5C>A - IntronicSNV - 3/27 1
3-38665202-G-C c.393-1222C>G - IntronicSNV - 3/27 1
3-38665202-G-T c.393-1222C>A - IntronicSNV - 3/27 1
3-38665823-A-G c.393-1843T>C - IntronicSNV - 3/27 2
3-38665823-A-T c.393-1843T>A - IntronicSNV - 3/27 2
3-38667573-C-G c.393-3593G>C - IntronicSNV - 3/27 1
3-38668256-G-C c.392+3546C>G - IntronicSNV - 3/27 1
3-38668256-G-T c.392+3546C>A - IntronicSNV - 3/27 1
3-38670098-A-G c.392+1704T>C - IntronicSNV - 3/27 1
3-38671560-A-G c.392+242T>C - IntronicSNV - 3/27 1
3-38671818-T-C c.376A>G p.K126E Missense 3/28 - 3
3-38671821-C-A c.373G>T p.V125L Missense 3/28 - 2
3-38671821-C-G c.373G>C p.V125L Missense 3/28 - 6
3-38671823-G-T c.371C>A p.A124D Missense 3/28 - 4
3-38671827-C-T c.367G>A p.A123T Missense 3/28 - 1
3-38671829-C-T c.365G>A p.R122K Missense 3/28 - 1
3-38671832-C-T c.362G>A p.R121Q Missense 3/28 - 6
3-38671833-G-A c.361C>T p.R121W Missense 3/28 - 13
3-38671838-G-A c.356C>T p.P119L Missense 3/28 - 1
3-38671840-G-A c.354C>T p.H118= Synonymous 3/28 - 2
3-38671847-G-A c.347C>T p.P116L Missense 3/28 - 1
3-38671851-T-C c.343A>G p.S115G Missense 3/28 - 1
3-38671852-GAG-CTT c.340_342delinsAAG p.L114K Missense 3/28 - 1
3-38671853-A-G c.341T>C p.L114P Missense 3/28 - 1
3-38671854-G-A c.340C>T p.L114F Missense 3/28 - 1
3-38671857-C-T c.337G>A p.V113I Missense 3/28 - 1
3-38671859-T-C c.335A>G p.Y112C Missense 3/28 - 1
3-38671863-A-T c.331T>A p.L111M Missense 3/28 - 1
3-38671866-C-T c.328G>A p.A110T Missense 3/28 - 1
3-38671867-G-C c.327C>G p.N109K Missense 3/28 - 2
3-38671867-G-T c.327C>A p.N109K Missense 3/28 - 2
3-38671874-G-T c.320C>A p.A107D Missense 3/28 - 1
3-38671878-T-C c.316A>G p.S106G Missense 3/28 - 1
3-38671882-CC-AT c.311_312delinsAT p.R104H Missense 3/28 - 1
3-38671883-CG-TT c.310_311delinsAA p.R104K Missense 3/28 - 1
3-38671883-C-T c.311G>A p.R104Q Missense 3/28 - 10
3-38671884-G-A c.310C>T p.R104W Missense 3/28 - 10
3-38671884-G-C c.310C>G p.R104G Missense 3/28 - 1
3-38671892-G-A c.302C>T p.T101I Missense 3/28 - 1
3-38671893-T-C c.301A>G p.T101A Missense 3/28 - 1
3-38671894-C-T c.300G>A p.K100= Synonymous 3/28 - 1
3-38671901-TT-GC c.292_293delinsGC p.K98A Missense 3/28 - 1
3-38671904-T-A c.290A>T p.N97I Missense 3/28 - 1
3-38671904-T-C c.290A>G p.N97S Missense 3/28 - 5
3-38671907-A-G c.287T>C p.L96P Missense 3/28 - 1
3-38671911-C-T c.283G>A p.V95I Missense 3/28 - 7
3-38671913-A-C c.281T>G p.I94S Missense 3/28 - 2
3-38671914-T-C c.280A>G p.I94V Missense 3/28 - 2
3-38671916-A-G c.278T>C p.F93S Missense 3/28 - 2
3-38671944-G-A c.274-24C>T - IntronicSNV - 2/27 1
3-38671945-C-T c.274-25G>A - IntronicSNV - 2/27 1
3-38672585-A-G c.274-665T>C - IntronicSNV - 2/27 1
3-38674530-T-C c.269A>G p.Q90R Missense 2/28 - 1
3-38674535-GCT-TCA c.262_264delinsTGA p.S88* Nonsense 2/28 - 6
3-38674539-T-C c.260A>G p.Y87C Missense 2/28 - 3
3-38674546-G-A c.253C>T p.P85S Missense 2/28 - 1
3-38674549-C-T c.250G>A p.D84N Missense 2/28 - 1
3-38674556-C-A c.243G>T p.E81D Missense 2/28 - 1
3-38674556-C-G c.243G>C p.E81D Missense 2/28 - 1
3-38674558-C-G c.241G>C p.E81Q Missense 2/28 - 1
3-38674565-C-A c.234G>T p.E78D Missense 2/28 - 1
3-38674565-C-G c.234G>C p.E78D Missense 2/28 - 1
3-38674568-TCC-ACA c.229_231delinsTGT p.G77C Missense 2/28 - 1
3-38674572-AT-GC c.226_227delinsGC p.I76A Missense 2/28 - 1
3-38674574-GAG-CTT c.223_225delinsAAG p.L75K Missense 2/28 - 1
3-38674582-G-A c.217C>T p.Q73* Nonsense 2/28 - 2
3-38674582-G-T c.217C>A p.Q73K Missense 2/28 - 1
3-38674584-G-A c.215C>T p.P72L Missense 2/28 - 1
3-38674585-G-T c.214C>A p.P72T Missense 2/28 - 1
3-38674589-A-C c.210T>G p.N70K Missense 2/28 - 3
3-38674589-A-T c.210T>A p.N70K Missense 2/28 - 2
3-38674594-C-T c.205G>A p.G69S Missense 2/28 - 1
3-38674596-TA-GC c.202_203delinsGC p.Y68A Missense 2/28 - 1
3-38674596-T-C c.203A>G p.Y68C Missense 2/28 - 1
3-38674600-G-A c.199C>T p.L67F Missense 2/28 - 1
3-38674611-TT-GC c.187_188delinsGC p.K63A Missense 2/28 - 1
3-38674617-G-A c.182C>T p.S61F Missense 2/28 - 1
3-38674620-GC-CA c.178_179delinsTG p.A60C Missense 2/28 - 1
3-38674624-G-A c.175C>T p.Q59* Nonsense 2/28 - 1
3-38674629-T-C c.170A>G p.D57G Missense 2/28 - 1
3-38674636-G-A c.163C>T p.Q55* Nonsense 2/28 - 6
3-38674641-C-T c.158G>A p.R53Q Missense 2/28 - 2
3-38674645-G-A c.154C>T p.P52S Missense 2/28 - 1
3-38674646-A-C c.153T>G p.A51= Synonymous 2/28 - 1
3-38674646-A-G c.153T>C p.A51= Synonymous 2/28 - 1
3-38674646-A-T c.153T>A p.A51= Synonymous 2/28 - 1
3-38674647-GC-CA c.151_152delinsTG p.A51C Missense 2/28 - 1
3-38674651-C-A c.148G>T p.E50* Nonsense 2/28 - 1
3-38674653-T-C c.146A>G p.E49G Missense 2/28 - 1
3-38674657-C-T c.142G>A p.E48K Missense 2/28 - 4
3-38674658-G-T c.141C>A p.P47= Synonymous 2/28 - 1
3-38674662-AG-TC c.136_137delinsGA p.L46E Missense 2/28 - 1
3-38674664-CCC-ACA c.133_135delinsTGT p.G45C Missense 2/28 - 1
3-38674664-CCC-GCT c.133_135delinsAGC p.G45S Missense 2/28 - 1
3-38674668-TC-AG c.130_131delinsCT p.E44L Missense 2/28 - 1
3-38674669-C-G c.130G>C p.E44Q Missense 2/28 - 1
3-38674671-C-T c.128G>A p.R43Q Missense 2/28 - 6
3-38674672-G-A c.127C>T p.R43* Nonsense 2/28 - 2
3-38674677-T-G c.122A>C p.E41A Missense 2/28 - 1
3-38674689-G-A c.110C>T p.T37I Missense 2/28 - 1
3-38674692-G-A c.107C>T p.S36L Missense 2/28 - 1
3-38674696-C-T c.103G>A p.G35S Missense 2/28 - 5
3-38674698-C-T c.101G>A p.R34H Missense 2/28 - 2
3-38674699-G-A c.100C>T p.R34C Missense 2/28 - 29
3-38674700-G-A c.99C>T p.A33= Synonymous 2/28 - 1
3-38674700-G-C c.99C>G p.A33= Synonymous 2/28 - 1
3-38674700-G-T c.99C>A p.A33= Synonymous 2/28 - 1
3-38674698-CG-C c.100del p.R34Afs*63 Frameshift 2/28 - 1
3-38674701-GC-CA c.97_98delinsTG p.A33C Missense 2/28 - 1
3-38674704-T-C c.95A>G p.Q32R Missense 2/28 - 3
3-38674710-T-C c.89A>G p.E30G Missense 2/28 - 3
3-38674712-T-A c.87A>T p.A29= Synonymous 2/28 - 21
3-38674712-T-C c.87A>G p.A29= Synonymous 2/28 - 22
3-38674712-T-G c.87A>C p.A29= Synonymous 2/28 - 2
3-38674713-G-A c.86C>T p.A29V Missense 2/28 - 1
3-38674713-G-T c.86C>A p.A29E Missense 2/28 - 2
3-38674714-C-T c.85G>A p.A29T Missense 2/28 - 1
3-38674719-C-A c.80G>T p.R27L Missense 2/28 - 1
3-38674719-C-G c.80G>C p.R27P Missense 2/28 - 1
3-38674719-C-T c.80G>A p.R27H Missense 2/28 - 9
3-38674720-G-A c.79C>T p.R27C Missense 2/28 - 1
3-38674725-T-C c.74A>G p.E25G Missense 2/28 - 1
3-38674726-C-T c.73G>A p.E25K Missense 2/28 - 1
3-38674727-GAT-TTA c.70_72delinsTAA p.I24* Nonsense 2/28 - 1
3-38674731-GC-AA c.67_68delinsTT p.A23F Missense 2/28 - 1
3-38674731-G-T c.68C>A p.A23D Missense 2/28 - 1
3-38674732-C-T c.67G>A p.A23T Missense 2/28 - 1
3-38674733-TGC-ACA c.64_66delinsTGT p.A22C Missense 2/28 - 1
3-38674733-TG-GT c.65_66delinsAC p.A22D Missense 2/28 - 1
3-38674740-G-A c.59C>T p.S20F Missense 2/28 - 1
3-38674741-A-C c.58T>G p.S20A Missense 2/28 - 2
3-38674742-CTC-ACA c.55_57delinsTGT p.E19C Missense 2/28 - 1
3-38674743-T-C c.56A>G p.E19G Missense 2/28 - 1
3-38674745-CCG-GCT c.52_54delinsAGC p.R18S Missense 2/28 - 1
3-38674746-CG-TT c.52_53delinsAA p.R18K Missense 2/28 - 1
3-38674746-C-T c.53G>A p.R18Q Missense 2/28 - 3
3-38674747-G-A c.52C>T p.R18W Missense 2/28 - 6
3-38674749-G-A c.50C>T p.T17I Missense 2/28 - 1
3-38674751-G-C c.48C>G p.F16L Missense 2/28 - 1
3-38674751-G-T c.48C>A p.F16L Missense 2/28 - 1
3-38674753-A-G c.46T>C p.F16L Missense 2/28 - 1
3-38674755-C-G c.44G>C p.R15T Missense 2/28 - 1
3-38674756-TGCG-T c.40_42del p.R15del InFrameDeletion 2/28 - 16
3-38674758-C-A c.41G>T p.R14L Missense 2/28 - 1
3-38674760-G-A c.39C>T p.F13= Synonymous 2/28 - 1
3-38674763-GCT-CTC c.34_36delinsGAG p.S12E Missense 2/28 - 1
3-38674764-C-A c.35G>T p.S12I Missense 2/28 - 1
3-38674764-CT-AA c.34_35delinsTT p.S12F Missense 2/28 - 2
3-38674764-CT-GC c.34_35delinsGC p.S12A Missense 2/28 - 3
3-38674764-CT-TC c.34_35delinsGA p.S12D Missense 2/28 - 3
3-38674765-T-A c.34A>T p.S12C Missense 2/28 - 3
3-38674765-T-C c.34A>G p.S12G Missense 2/28 - 1
3-38674766-G-C c.33C>G p.S11R Missense 2/28 - 1
3-38674766-GCT-CTC c.31_33delinsGAG p.S11E Missense 2/28 - 1
3-38674766-G-T c.33C>A p.S11R Missense 2/28 - 1
3-38674768-T-G c.31A>C p.S11R Missense 2/28 - 1
3-38674767-CT-AC c.31_32delinsGT p.S11V Missense 2/28 - 1
3-38674767-CT-AG c.31_32inv p.S11L Missense 2/28 - 1
3-38674767-CT-GC c.31_32delinsGC p.S11A Missense 2/28 - 5
3-38674767-CT-TC c.31_32delinsGA p.S11D Missense 2/28 - 1
3-38674768-T-A c.31A>T p.S11C Missense 2/28 - 2
3-38674768-T-C c.31A>G p.S11G Missense 2/28 - 1
3-38674769-GG-CA c.29_30delinsTG p.T10M Missense 2/28 - 1
3-38674769-GGT-CTC c.28_30delinsGAG p.T10E Missense 2/28 - 1
3-38674776-C-T c.23G>A p.R8Q Missense 2/28 - 1
3-38674784-T-A c.15A>T p.L5= Synonymous 2/28 - 1
3-38674784-T-C c.15A>G p.L5= Synonymous 2/28 - 1
3-38674784-T-G c.15A>C p.L5= Synonymous 2/28 - 1
3-38674786-G-A c.13C>T p.L5= Synonymous 2/28 - 1
3-38674790-G-A c.9C>T p.N3= Synonymous 2/28 - 1
3-38674795-C-T c.4G>A p.A2T Missense 2/28 - 2
3-38674796-C-G c.3G>C p.M1? Missense 2/28 - 1
3-38675412-C-G c.-52-562G>C - IntronicSNV - 1/27 9
3-38675412-C-T c.-52-562G>A - IntronicSNV - 1/27 9
3-38678501-C-A c.-52-3651G>T - IntronicSNV - 1/27 3
3-38678501-C-G c.-52-3651G>C - IntronicSNV - 1/27 3
3-38681218-C-G c.-52-6368G>C - IntronicSNV - 1/27 1
3-38681394-A-G c.-52-6544T>C - IntronicSNV - 1/27 4
3-38682893-A-G c.-52-8043T>C - IntronicSNV - 1/27 1
3-38683021-G-C c.-53+8001C>G - intron_variant - 1/27 2
3-38684466-C-A c.-53+6556G>T - intron_variant - 1/27 2
3-38687226-T-C c.-53+3796A>G - intron_variant - 1/27 1
3-38690908-G-A c.-53+114C>T - intron_variant - 1/27 2