KIF13B

KIF13B kinesin family member 13B

Annotation transcript: NM_015254.4

1683 unique variant annotations were identified in 518 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
8-28924858-C-A c.*3163G>T - 3-UTRSNV 40/40 - 3
8-28924858-C-T c.*3163G>A - 3-UTRSNV 40/40 - 3
8-28925475-C-G c.*2546G>C - 3-UTRSNV 40/40 - 1
8-28925475-C-T c.*2546G>A - 3-UTRSNV 40/40 - 1
8-28926081-G-T c.*1940C>A - 3-UTRSNV 40/40 - 2
8-28927805-T-A c.*216A>T - 3-UTRSNV 40/40 - 3
8-28927805-T-C c.*216A>G - 3-UTRSNV 40/40 - 3
8-28927805-T-G c.*216A>C - 3-UTRSNV 40/40 - 3
8-28927901-A-T c.*120T>A - 3-UTRSNV 40/40 - 1
8-28928004-C-T c.*17G>A - 3-UTRSNV 40/40 - 1
8-28928024-G-T c.5478C>A p.S1826R Missense 40/40 - 1
8-28928030-C-T c.5472G>A p.W1824* Nonsense 40/40 - 1
8-28928034-G-A c.5468C>T p.S1823F Missense 40/40 - 1
8-28928034-GA-AG c.5467_5468delinsCT p.S1823L Missense 40/40 - 1
8-28928034-G-T c.5468C>A p.S1823Y Missense 40/40 - 1
8-28928040-C-T c.5462G>A p.R1821Q Missense 40/40 - 2
8-28928041-G-A c.5461C>T p.R1821W Missense 40/40 - 4
8-28928046-T-C c.5456A>G p.E1819G Missense 40/40 - 1
8-28928049-G-A c.5453C>T p.P1818L Missense 40/40 - 3
8-28928050-G-C c.5452C>G p.P1818A Missense 40/40 - 1
8-28928050-G-T c.5452C>A p.P1818T Missense 40/40 - 1
8-28928059-G-A c.5443C>T p.H1815Y Missense 40/40 - 1
8-28928064-C-T c.5438G>A p.R1813K Missense 40/40 - 2
8-28928065-T-C c.5437A>G p.R1813G Missense 40/40 - 1
8-28928068-C-T c.5434G>A p.D1812N Missense 40/40 - 4
8-28928069-G-A c.5433C>T p.A1811= Synonymous 40/40 - 1
8-28928069-G-C c.5433C>G p.A1811= Synonymous 40/40 - 1
8-28928069-G-T c.5433C>A p.A1811= Synonymous 40/40 - 1
8-28928076-G-T c.5426C>A p.A1809D Missense 40/40 - 1
8-28928077-C-T c.5425G>A p.A1809T Missense 40/40 - 2
8-28928080-G-A c.5422C>T p.L1808= Synonymous 40/40 - 1
8-28928094-G-A c.5408C>T p.S1803L Missense 40/40 - 4
8-28928094-GA-CT c.5407_5408delinsAG p.S1803R Missense 40/40 - 1
8-28928101-G-T c.5401C>A p.L1801M Missense 40/40 - 1
8-28928105-G-A c.5397C>T p.T1799= Synonymous 40/40 - 1
8-28928105-G-C c.5397C>G p.T1799= Synonymous 40/40 - 1
8-28928105-G-T c.5397C>A p.T1799= Synonymous 40/40 - 1
8-28928106-G-A c.5396C>T p.T1799I Missense 40/40 - 1
8-28928106-GT-CA c.5395_5396delinsTG p.T1799C Missense 40/40 - 1
8-28928109-G-A c.5393C>T p.A1798V Missense 40/40 - 1
8-28928110-C-T c.5392G>A p.A1798T Missense 40/40 - 2
8-28928116-C-T c.5386G>A p.G1796S Missense 40/40 - 1
8-28928117-C-A c.5385G>T p.S1795= Synonymous 40/40 - 2
8-28928117-C-G c.5385G>C p.S1795= Synonymous 40/40 - 1
8-28928117-C-T c.5385G>A p.S1795= Synonymous 40/40 - 1
8-28928118-G-A c.5384C>T p.S1795L Missense 40/40 - 2
8-28928120-G-A c.5382C>T p.L1794= Synonymous 40/40 - 1
8-28928124-G-A c.5378C>T p.T1793I Missense 40/40 - 1
8-28928126-G-T c.5376C>A p.A1792= Synonymous 40/40 - 1
8-28928127-G-A c.5375C>T p.A1792V Missense 40/40 - 2
8-28928128-C-T c.5374G>A p.A1792T Missense 40/40 - 2
8-28928129-G-A c.5373C>T p.S1791= Synonymous 40/40 - 3
8-28928130-C-T c.5372G>A p.S1791N Missense 40/40 - 1
8-28928132-C-T c.5370G>A p.R1790= Synonymous 40/40 - 3
8-28928133-C-T c.5369G>A p.R1790Q Missense 40/40 - 2
8-28928134-G-A c.5368C>T p.R1790W Missense 40/40 - 1
8-28928136-C-T c.5366G>A p.R1789H Missense 40/40 - 1
8-28928142-T-C c.5360A>G p.E1787G Missense 40/40 - 1
8-28928143-C-CA c.5358_5359insT p.E1787* Nonsense 40/40 - 1
8-28928144-G-A c.5358C>T p.P1786= Synonymous 40/40 - 1
8-28928144-G-C c.5358C>G p.P1786= Synonymous 40/40 - 1
8-28928144-G-T c.5358C>A p.P1786= Synonymous 40/40 - 1
8-28928145-G-A c.5357C>T p.P1786L Missense 40/40 - 1
8-28928150-ACC-TCA c.5350_5352delinsTGA p.G1784* Nonsense 40/40 - 1
8-28928153-C-A c.5349G>T p.L1783= Synonymous 40/40 - 1
8-28928157-C-T c.5345G>A p.R1782Q Missense 40/40 - 1
8-28928158-G-A c.5344C>T p.R1782W Missense 40/40 - 4
8-28928159-G-C c.5343C>G p.L1781= Synonymous 40/40 - 1
8-28928160-GA-G c.5342del p.L1781Pfs*24 Frameshift 40/40 - 1
8-28928165-CTGT-C c.5335_5337del p.T1779del InFrameDeletion 40/40 - 1
8-28928165-T-A c.5337A>T p.T1779= Synonymous 40/40 - 1
8-28928170-T-G c.5332A>C p.S1778R Missense 40/40 - 1
8-28928171-G-A c.5331C>T p.R1777= Synonymous 40/40 - 1
8-28928172-C-G c.5330G>C p.R1777P Missense 40/40 - 1
8-28928173-G-A c.5329C>T p.R1777C Missense 40/40 - 1
8-28928174-C-G c.5328G>C p.R1776= Synonymous 40/40 - 1
8-28928175-C-G c.5327G>C p.R1776P Missense 40/40 - 2
8-28928178-C-A c.5324G>T p.R1775L Missense 40/40 - 2
8-28928178-C-T c.5324G>A p.R1775Q Missense 40/40 - 3
8-28928179-G-A c.5323C>T p.R1775W Missense 40/40 - 2
8-28928183-CA-C c.5319del p.V1774Cfs*31 Frameshift 40/40 - 1
8-28928185-G-A c.5317C>T p.P1773S Missense 40/40 - 1
8-28928185-G-T c.5317C>A p.P1773T Missense 40/40 - 3
8-28928187-C-T c.5315G>A p.G1772D Missense 40/40 - 2
8-28928189-C-CT c.5312_5313insA p.V1774Cfs*46 Frameshift 40/40 - 1
8-28928190-G-A c.5312C>T p.T1771M Missense 40/40 - 3
8-28928191-T-TGCGGC c.5310_5311insGCCGC p.T1771Afs*36 Frameshift 40/40 - 1
8-28928192-G-A c.5310C>T p.A1770= Synonymous 40/40 - 1
8-28928195-C-G c.5307G>C p.R1769S Missense 40/40 - 1
8-28928196-C-G c.5306G>C p.R1769T Missense 40/40 - 1
8-28928197-T-A c.5305A>T p.R1769W Missense 40/40 - 1
8-28928198-GCG-CTT c.5302_5304delinsAAG p.R1768K Missense 40/40 - 1
8-28928199-C-A c.5303G>T p.R1768L Missense 40/40 - 1
8-28928199-C-CACA c.5302_5303insTGT p.R1768delinsLC MultiAAMissense 40/40 - 1
8-28928199-C-T c.5303G>A p.R1768H Missense 40/40 - 1
8-28928200-G-A c.5302C>T p.R1768C Missense 40/40 - 1
8-28928203-C-CT c.5298_5299insA p.V1767Sfs*53 Frameshift 40/40 - 1
8-28928206-G-A c.5296C>T p.R1766W Missense 40/40 - 2
8-28928206-G-T c.5296C>A p.R1766= Synonymous 40/40 - 1
8-28928211-G-A c.5291C>T p.P1764L Missense 40/40 - 1
8-28928227-C-G c.5275G>C p.G1759R Missense 40/40 - 2
8-28928227-C-T c.5275G>A p.G1759R Missense 40/40 - 2
8-28928244-C-CT c.5257dup p.R1753Kfs*3 Frameshift 40/40 - 1
8-28928246-G-A c.5256C>T p.F1752= Synonymous 40/40 - 1
8-28928258-C-A c.5244G>T p.G1748= Synonymous 40/40 - 1
8-28928258-C-G c.5244G>C p.G1748= Synonymous 40/40 - 1
8-28928258-C-T c.5244G>A p.G1748= Synonymous 40/40 - 1
8-28928262-C-T c.5240G>A p.G1747D Missense 40/40 - 1
8-28928263-C-A c.5239G>T p.G1747C Missense 40/40 - 1
8-28928271-C-A c.5231G>T p.G1744V Missense 40/40 - 1
8-28928272-C-T c.5230G>A p.G1744S Missense 40/40 - 1
8-28928275-C-A c.5227G>T p.D1743Y Missense 40/40 - 1
8-28928278-T-C c.5224A>G p.N1742D Missense 40/40 - 1
8-28929139-G-A c.5216C>T p.S1739L Missense 39/40 - 1
8-28929139-G-C c.5216C>G p.S1739* Nonsense 39/40 - 1
8-28929139-G-T c.5216C>A p.S1739* Nonsense 39/40 - 1
8-28929142-G-A c.5213C>T p.P1738L Missense 39/40 - 2
8-28929149-C-T c.5206G>A p.D1736N Missense 39/40 - 1
8-28929150-G-A c.5205C>T p.L1735= Synonymous 39/40 - 1
8-28929155-C-T c.5200G>A p.E1734K Missense 39/40 - 1
8-28929158-C-T c.5197G>A p.V1733M Missense 39/40 - 1
8-28929161-C-T c.5194G>A p.G1732S Missense 39/40 - 1
8-28929186-G-A c.5169C>T p.A1723= Synonymous 39/40 - 1
8-28929190-G-T c.5165C>A p.P1722H Missense 39/40 - 1
8-28929198-G-A c.5157C>T p.Y1719= Synonymous 39/40 - 3
8-28929198-G-T c.5157C>A p.Y1719* Nonsense 39/40 - 1
8-28929199-T-C c.5156A>G p.Y1719C Missense 39/40 - 4
8-28929207-C-G c.5148G>C p.V1716= Synonymous 39/40 - 1
8-28929207-C-T c.5148G>A p.V1716= Synonymous 39/40 - 1
8-28929209-C-T c.5146G>A p.V1716M Missense 39/40 - 1
8-28929211-C-G c.5144G>C p.G1715A Missense 39/40 - 1
8-28929224-C-A c.5131G>T p.A1711S Missense 39/40 - 1
8-28929225-G-A c.5130C>T p.G1710= Synonymous 39/40 - 1
8-28929230-C-T c.5125G>A p.V1709M Missense 39/40 - 1
8-28929231-G-A c.5124C>T p.T1708= Synonymous 39/40 - 1
8-28929231-GG-CA c.5123_5124delinsTG p.T1708M Missense 39/40 - 1
8-28929232-G-A c.5123C>T p.T1708I Missense 39/40 - 3
8-28929231-GGT-G c.5122_5123del p.T1708Rfs*33 Frameshift 39/40 - 1
8-28929234-G-A c.5121C>T p.V1707= Synonymous 39/40 - 1
8-28929234-G-C c.5121C>G p.V1707= Synonymous 39/40 - 1
8-28929234-G-T c.5121C>A p.V1707= Synonymous 39/40 - 1
8-28929236-C-T c.5119G>A p.V1707I Missense 39/40 - 4
8-28929237-G-T c.5118C>A p.F1706L Missense 39/40 - 1
8-28929247-T-G c.5108A>C p.E1703A Missense 39/40 - 1
8-28929252-G-A c.5103C>T p.L1701= Synonymous 39/40 - 2
8-28929260-C-T c.5095G>A p.E1699K Missense 39/40 - 2
8-28929262-G-A c.5093C>T p.P1698L Missense 39/40 - 1
8-28929262-G-T c.5093C>A p.P1698Q Missense 39/40 - 1
8-28929263-G-A c.5092C>T p.P1698S Missense 39/40 - 1
8-28929285-A-C c.5070T>G p.D1690E Missense 39/40 - 1
8-28929288-A-C c.5067T>G p.S1689= Synonymous 39/40 - 1
8-28929288-A-G c.5067T>C p.S1689= Synonymous 39/40 - 1
8-28929288-A-T c.5067T>A p.S1689= Synonymous 39/40 - 1
8-28929296-G-T c.5059C>A p.L1687M Missense 39/40 - 1
8-28929306-C-A c.5049G>T p.G1683= Synonymous 39/40 - 1
8-28929306-C-G c.5049G>C p.G1683= Synonymous 39/40 - 1
8-28929306-C-T c.5049G>A p.G1683= Synonymous 39/40 - 1
8-28929304-CCCCCGGCGCCCGGGGCCGGCGCATTCCCCTCGGCCCCCGGGGAGCAGCCGGGGT-C c.4997_5050del p.D1666_G1683del InFrameDeletion 39/40 - 1
8-28929312-G-A c.5043C>T p.G1681= Synonymous 39/40 - 1
8-28929312-G-C c.5043C>G p.G1681= Synonymous 39/40 - 1
8-28929312-G-T c.5043C>A p.G1681= Synonymous 39/40 - 1
8-28929312-G-GC c.5042dup p.A1682Rfs*9 Frameshift 39/40 - 1
8-28929315-CG-AT c.5039_5040delinsAT p.P1680H Missense 39/40 - 1
8-28929320-C-T c.5035G>A p.A1679T Missense 39/40 - 1
8-28929323-G-A c.5032C>T p.P1678S Missense 39/40 - 1
8-28929326-C-A c.5029G>T p.A1677S Missense 39/40 - 1
8-28929337-G-GC c.5017dup p.A1673Gfs*18 Frameshift 39/40 - 1
8-28929343-G-A c.5012C>T p.P1671L Missense 39/40 - 2
8-28929346-G-A c.5009C>T p.S1670F Missense 39/40 - 1
8-28929353-C-A c.5002G>T p.G1668C Missense 39/40 - 1
8-28929356-G-A c.4999C>T p.P1667S Missense 39/40 - 1
8-28929357-G-A c.4998C>T p.D1666= Synonymous 39/40 - 1
8-28929361-C-G c.4994G>C p.G1665A Missense 39/40 - 1
8-28929361-C-T c.4994G>A p.G1665E Missense 39/40 - 1
8-28929365-C-A c.4990G>T p.A1664S Missense 39/40 - 1
8-28929368-G-A c.4987C>T p.L1663= Synonymous 39/40 - 1
8-28929373-C-T c.4982G>A p.R1661H Missense 39/40 - 1
8-28929374-G-A c.4981C>T p.R1661C Missense 39/40 - 1
8-28929375-C-T c.4980G>A p.S1660= Synonymous 39/40 - 1
8-28929381-G-A c.4974C>T p.S1658= Synonymous 39/40 - 1
8-28929381-G-C c.4974C>G p.S1658= Synonymous 39/40 - 1
8-28929381-G-T c.4974C>A p.S1658= Synonymous 39/40 - 1
8-28929382-GA-AG c.4972_4973delinsCT p.S1658L Missense 39/40 - 2
8-28929385-C-T c.4970G>A p.R1657H Missense 39/40 - 1
8-28929394-G-A c.4961C>T p.S1654L Missense 39/40 - 1
8-28929399-C-T c.4956G>A p.R1652= Synonymous 39/40 - 1
8-28929401-G-A c.4954C>T p.R1652W Missense 39/40 - 2
8-28929413-C-G c.4942G>C p.V1648L Missense 39/40 - 2
8-28929413-C-T c.4942G>A p.V1648I Missense 39/40 - 1
8-28929423-G-A c.4932C>T p.S1644= Synonymous 39/40 - 1
8-28929423-G-C c.4932C>G p.S1644= Synonymous 39/40 - 1
8-28929423-G-T c.4932C>A p.S1644= Synonymous 39/40 - 1
8-28929430-G-A c.4925C>T p.P1642L Missense 39/40 - 1
8-28929432-C-T c.4923G>A p.A1641= Synonymous 39/40 - 1
8-28929460-C-T c.4895G>A p.R1632Q Missense 39/40 - 2
8-28929477-C-G c.4878G>C p.Q1626H Missense 39/40 - 1
8-28929481-T-C c.4874A>G p.Q1625R Missense 39/40 - 1
8-28929492-G-A c.4863C>T p.P1621= Synonymous 39/40 - 1
8-28929492-G-C c.4863C>G p.P1621= Synonymous 39/40 - 1
8-28929496-T-C c.4859A>G p.E1620G Missense 39/40 - 1
8-28929502-G-A c.4853C>T p.A1618V Missense 39/40 - 2
8-28929506-G-A c.4849C>T p.P1617S Missense 39/40 - 1
8-28929509-C-T c.4846G>A p.V1616I Missense 39/40 - 1
8-28929515-T-G c.4840A>C p.T1614P Missense 39/40 - 1
8-28929526-G-A c.4829C>T p.P1610L Missense 39/40 - 2
8-28929532-C-T c.4823G>A p.S1608N Missense 39/40 - 1
8-28929534-G-A c.4821C>T p.I1607= Synonymous 39/40 - 1
8-28929537-G-A c.4818C>T p.P1606= Synonymous 39/40 - 1
8-28929555-C-A c.4800G>T p.E1600D Missense 39/40 - 1
8-28929555-C-G c.4800G>C p.E1600D Missense 39/40 - 1
8-28929557-C-T c.4798G>A p.E1600K Missense 39/40 - 1
8-28929560-G-A c.4795C>T p.P1599S Missense 39/40 - 1
8-28929564-G-A c.4791C>T p.T1597= Synonymous 39/40 - 2
8-28929564-G-C c.4791C>G p.T1597= Synonymous 39/40 - 1
8-28929564-G-T c.4791C>A p.T1597= Synonymous 39/40 - 1
8-28929574-G-A c.4781C>T p.S1594F Missense 39/40 - 1
8-28929576-C-A c.4779G>T p.G1593= Synonymous 39/40 - 1
8-28929576-C-G c.4779G>C p.G1593= Synonymous 39/40 - 1
8-28929576-C-T c.4779G>A p.G1593= Synonymous 39/40 - 1
8-28929577-C-G c.4778G>C p.G1593A Missense 39/40 - 1
8-28929578-C-T c.4777G>A p.G1593R Missense 39/40 - 1
8-28929579-C-T c.4776G>A p.P1592= Synonymous 39/40 - 1
8-28929595-T-C c.4760A>G p.D1587G Missense 39/40 - 1
8-28929604-G-C c.4751C>G p.P1584R Missense 39/40 - 1
8-28929623-G-A c.4732C>T p.L1578= Synonymous 39/40 - 1
8-28929629-C-A c.4726G>T p.A1576S Missense 39/40 - 1
8-28929629-C-T c.4726G>A p.A1576T Missense 39/40 - 2
8-28929630-G-A c.4725C>T p.T1575= Synonymous 39/40 - 1
8-28929630-G-C c.4725C>G p.T1575= Synonymous 39/40 - 1
8-28929630-G-T c.4725C>A p.T1575= Synonymous 39/40 - 1
8-28929638-C-T c.4717G>A p.V1573I Missense 39/40 - 1
8-28929645-G-A c.4710C>T p.S1570= Synonymous 39/40 - 1
8-28929653-A-G c.4702T>C p.Y1568H Missense 39/40 - 1
8-28929661-G-A c.4694C>T p.S1565F Missense 39/40 - 1
8-28929670-C-T c.4685G>A p.S1562N Missense 39/40 - 1
8-28929679-C-CG c.4675_4676insC p.S1559Tfs*5 Frameshift 39/40 - 1
8-28929679-C-G c.4676G>C p.S1559T Missense 39/40 - 1
8-28929680-T-TA c.4674_4675insT p.S1559* Nonsense 39/40 - 1
8-28929682-G-A c.4673C>T p.P1558L Missense 39/40 - 1
8-28929685-G-T c.4670C>A p.P1557H Missense 39/40 - 1
8-28929680-TG-T c.4674del p.S1559Afs*3 Frameshift 39/40 - 1
8-28929680-T-TG c.4674dup p.S1559Qfs*5 Frameshift 39/40 - 1
8-28929686-G-A c.4669C>T p.P1557S Missense 39/40 - 3
8-28929686-G-C c.4669C>G p.P1557A Missense 39/40 - 1
8-28929688-C-T c.4667G>A p.G1556E Missense 39/40 - 1
8-28929690-G-C c.4665C>G p.D1555E Missense 39/40 - 1
8-28929690-G-T c.4665C>A p.D1555E Missense 39/40 - 1
8-28929692-C-T c.4663G>A p.D1555N Missense 39/40 - 1
8-28929698-C-T c.4657G>A p.A1553T Missense 39/40 - 2
8-28929703-G-A c.4652C>T p.P1551L Missense 39/40 - 2
8-28929706-G-C c.4649C>G p.A1550G Missense 39/40 - 1
8-28929707-C-T c.4648G>A p.A1550T Missense 39/40 - 1
8-28929709-G-A c.4646C>T p.P1549L Missense 39/40 - 1
8-28929712-G-A c.4643C>T p.T1548I Missense 39/40 - 1
8-28929716-C-T c.4639G>A p.V1547I Missense 39/40 - 1
8-28929727-G-A c.4628C>T p.A1543V Missense 39/40 - 1
8-28929733-A-C c.4622T>G p.V1541G Missense 39/40 - 1
8-28929738-C-A c.4617G>T p.P1539= Synonymous 39/40 - 1
8-28929738-C-G c.4617G>C p.P1539= Synonymous 39/40 - 1
8-28929738-C-T c.4617G>A p.P1539= Synonymous 39/40 - 1
8-28929739-G-A c.4616C>T p.P1539L Missense 39/40 - 6
8-28929743-G-A c.4612C>T p.P1538S Missense 39/40 - 1
8-28929749-G-A c.4606C>T p.P1536S Missense 39/40 - 1
8-28929751-A-T c.4604T>A p.V1535E Missense 39/40 - 1
8-28929770-A-C c.4585T>G p.C1529G Missense 39/40 - 1
8-28929777-C-T c.4578G>A p.L1526= Synonymous 39/40 - 1
8-28929780-G-A c.4575C>T p.A1525= Synonymous 39/40 - 1
8-28929780-G-C c.4575C>G p.A1525= Synonymous 39/40 - 1
8-28929780-G-T c.4575C>A p.A1525= Synonymous 39/40 - 1
8-28929782-C-T c.4573G>A p.A1525T Missense 39/40 - 1
8-28929783-C-T c.4572G>A p.P1524= Synonymous 39/40 - 1
8-28929783-CG-C c.4571del p.P1524Rfs*3 Frameshift 39/40 - 2
8-28929790-C-T c.4565G>A p.G1522E Missense 39/40 - 1
8-28929794-T-C c.4561A>G p.M1521V Missense 39/40 - 1
8-28929808-A-C c.4547T>G p.V1516G Missense 39/40 - 1
8-28929809-C-T c.4546G>A p.V1516M Missense 39/40 - 1
8-28929814-G-A c.4541C>T p.P1514L Missense 39/40 - 1
8-28929815-G-A c.4540C>T p.P1514S Missense 39/40 - 1
8-28929820-A-C c.4535T>G p.M1512R Missense 39/40 - 10
8-28929826-G-C c.4529C>G p.P1510R Missense 39/40 - 1
8-28929830-G-A c.4525C>T p.Q1509* Nonsense 39/40 - 1
8-28929950-C-T c.4522-117G>A - IntronicSNV - 38/39 1
8-28932641-G-A c.4521+157C>T - IntronicSNV - 38/39 1
8-28932740-C-T c.4521+58G>A - IntronicSNV - 38/39 1
8-28932808-C-A c.4511G>T p.R1504M Missense 38/40 - 1
8-28932811-G-C c.4508C>G p.T1503S Missense 38/40 - 1
8-28932812-T-A c.4507A>T p.T1503S Missense 38/40 - 1
8-28932812-T-C c.4507A>G p.T1503A Missense 38/40 - 1
8-28932813-C-A c.4506G>T p.V1502= Synonymous 38/40 - 1
8-28932813-C-G c.4506G>C p.V1502= Synonymous 38/40 - 1
8-28932813-C-T c.4506G>A p.V1502= Synonymous 38/40 - 2
8-28932825-C-T c.4494G>A p.P1498= Synonymous 38/40 - 2
8-28932826-G-A c.4493C>T p.P1498L Missense 38/40 - 4
8-28932829-CT-GG c.4489_4490delinsCC p.S1497P Missense 38/40 - 1
8-28932840-C-A c.4479G>T p.V1493= Synonymous 38/40 - 1
8-28932840-C-G c.4479G>C p.V1493= Synonymous 38/40 - 1
8-28932840-C-T c.4479G>A p.V1493= Synonymous 38/40 - 1
8-28932843-C-A c.4476G>T p.M1492I Missense 38/40 - 1
8-28932843-C-G c.4476G>C p.M1492I Missense 38/40 - 1
8-28932843-C-T c.4476G>A p.M1492I Missense 38/40 - 1
8-28932850-C-T c.4469G>A p.R1490H Missense 38/40 - 1
8-28932853-G-A c.4466C>T p.P1489L Missense 38/40 - 1
8-28932857-C-T c.4462G>A p.V1488M Missense 38/40 - 1
8-28932860-G-A c.4459C>T p.P1487S Missense 38/40 - 1
8-28934325-T-TA c.4459-1466dup - IntronicInsertion - 37/39 1
8-28941305-C-T c.4459-8445G>A - IntronicSNV - 37/39 6
8-28942703-C-G c.4458+7559G>C - IntronicSNV - 37/39 1
8-28942851-G-A c.4458+7411C>T - IntronicSNV - 37/39 1
8-28947558-G-C c.4458+2704C>G - IntronicSNV - 37/39 1
8-28947843-C-G c.4458+2419G>C - IntronicSNV - 37/39 1
8-28947843-C-T c.4458+2419G>A - IntronicSNV - 37/39 1
8-28950222-T-C c.4458+40A>G - IntronicSNV - 37/39 1
8-28950250-G-A c.4458+12C>T - IntronicSNV - 37/39 1
8-28950250-G-C c.4458+12C>G - IntronicSNV - 37/39 1
8-28950263-T-C c.4457A>G p.Q1486R Missense 37/40 - 1
8-28950265-G-A c.4455C>T p.H1485= Synonymous 37/40 - 2
8-28950277-A-C c.4443T>G p.S1481= Synonymous 37/40 - 1
8-28950277-A-G c.4443T>C p.S1481= Synonymous 37/40 - 1
8-28950277-A-T c.4443T>A p.S1481= Synonymous 37/40 - 1
8-28950280-C-A c.4440G>T p.P1480= Synonymous 37/40 - 1
8-28950280-C-G c.4440G>C p.P1480= Synonymous 37/40 - 1
8-28950280-C-T c.4440G>A p.P1480= Synonymous 37/40 - 2
8-28950289-G-C c.4431C>G p.G1477= Synonymous 37/40 - 1
8-28950303-C-T c.4417G>A p.D1473N Missense 37/40 - 7
8-28950305-C-G c.4415G>C p.R1472P Missense 37/40 - 1
8-28950305-C-T c.4415G>A p.R1472H Missense 37/40 - 1
8-28950306-G-A c.4414C>T p.R1472C Missense 37/40 - 1
8-28950307-G-A c.4413C>T p.V1471= Synonymous 37/40 - 2
8-28950307-G-C c.4413C>G p.V1471= Synonymous 37/40 - 2
8-28950307-G-T c.4413C>A p.V1471= Synonymous 37/40 - 2
8-28950309-C-T c.4411G>A p.V1471I Missense 37/40 - 11
8-28950310-G-A c.4410C>T p.P1470= Synonymous 37/40 - 1
8-28950310-G-C c.4410C>G p.P1470= Synonymous 37/40 - 1
8-28950310-G-T c.4410C>A p.P1470= Synonymous 37/40 - 1
8-28950311-G-A c.4409C>T p.P1470L Missense 37/40 - 1
8-28950312-G-A c.4408C>T p.P1470S Missense 37/40 - 5
8-28950311-GGAAA-G c.4405_4408del p.F1469Pfs*33 Frameshift 37/40 - 1
8-28950325-G-A c.4395C>T p.L1465= Synonymous 37/40 - 2
8-28950341-T-C c.4379A>G p.Q1460R Missense 37/40 - 1
8-28950343-C-A c.4377G>T p.P1459= Synonymous 37/40 - 1
8-28950343-C-G c.4377G>C p.P1459= Synonymous 37/40 - 1
8-28950343-C-T c.4377G>A p.P1459= Synonymous 37/40 - 1
8-28950346-C-A c.4374G>T p.V1458= Synonymous 37/40 - 1
8-28950346-C-G c.4374G>C p.V1458= Synonymous 37/40 - 2
8-28950346-C-T c.4374G>A p.V1458= Synonymous 37/40 - 1
8-28950348-C-T c.4372G>A p.V1458M Missense 37/40 - 3
8-28950349-G-A c.4371C>T p.F1457= Synonymous 37/40 - 2
8-28950352-G-A c.4368C>T p.S1456= Synonymous 37/40 - 3
8-28950358-G-A c.4362C>T p.V1454= Synonymous 37/40 - 1
8-28950358-G-C c.4362C>G p.V1454= Synonymous 37/40 - 1
8-28950358-G-T c.4362C>A p.V1454= Synonymous 37/40 - 1
8-28950362-G-A c.4358C>T p.P1453L Missense 37/40 - 1
8-28950362-GG-AA c.4357_4358delinsTT p.P1453F Missense 37/40 - 1
8-28950362-G-T c.4358C>A p.P1453H Missense 37/40 - 1
8-28950363-G-A c.4357C>T p.P1453S Missense 37/40 - 2
8-28950363-G-C c.4357C>G p.P1453A Missense 37/40 - 1
8-28950367-C-T c.4353G>A p.L1451= Synonymous 37/40 - 1
8-28950369-A-C c.4351T>G p.L1451V Missense 37/40 - 1
8-28950378-C-G c.4342G>C p.A1448P Missense 37/40 - 1
8-28950384-G-A c.4336C>T p.L1446F Missense 37/40 - 1
8-28950393-G-A c.4327C>T p.L1443F Missense 37/40 - 2
8-28954892-T-A c.4324+1758A>T - IntronicSNV - 36/39 1
8-28954892-T-G c.4324+1758A>C - IntronicSNV - 36/39 1
8-28956545-C-T c.4324+105G>A - IntronicSNV - 36/39 1
8-28956656-C-G c.4318G>C p.D1440H Missense 36/40 - 2
8-28956657-T-A c.4317A>T p.P1439= Synonymous 36/40 - 1
8-28956657-T-C c.4317A>G p.P1439= Synonymous 36/40 - 1
8-28956657-T-G c.4317A>C p.P1439= Synonymous 36/40 - 1
8-28956660-A-C c.4314T>G p.S1438= Synonymous 36/40 - 1
8-28956660-A-G c.4314T>C p.S1438= Synonymous 36/40 - 1
8-28956660-A-T c.4314T>A p.S1438= Synonymous 36/40 - 1
8-28956662-A-G c.4312T>C p.S1438P Missense 36/40 - 1
8-28956675-G-A c.4299C>T p.P1433= Synonymous 36/40 - 1
8-28956676-G-A c.4298C>T p.P1433L Missense 36/40 - 1
8-28956676-G-T c.4298C>A p.P1433H Missense 36/40 - 1
8-28956677-G-A c.4297C>T p.P1433S Missense 36/40 - 1
8-28956680-A-T c.4294T>A p.S1432T Missense 36/40 - 1
8-28956685-G-A c.4289C>T p.S1430F Missense 36/40 - 3
8-28956689-G-A c.4285C>T p.L1429F Missense 36/40 - 1
8-28956692-C-A c.4282G>T p.A1428S Missense 36/40 - 1
8-28956692-C-T c.4282G>A p.A1428T Missense 36/40 - 4
8-28956693-G-A c.4281C>T p.P1427= Synonymous 36/40 - 1
8-28956693-G-C c.4281C>G p.P1427= Synonymous 36/40 - 1
8-28956707-T-C c.4267A>G p.I1423V Missense 36/40 - 2
8-28956711-T-C c.4263A>G p.R1421= Synonymous 36/40 - 1
8-28956713-T-G c.4261A>C p.R1421= Synonymous 36/40 - 2
8-28956714-G-A c.4260C>T p.S1420= Synonymous 36/40 - 1
8-28956714-G-C c.4260C>G p.S1420= Synonymous 36/40 - 1
8-28956714-G-T c.4260C>A p.S1420= Synonymous 36/40 - 2
8-28956723-G-A c.4251C>T p.T1417= Synonymous 36/40 - 1
8-28956724-G-T c.4250C>A p.T1417N Missense 36/40 - 1
8-28956730-G-T c.4244C>A p.S1415Y Missense 36/40 - 5
8-28956737-C-A c.4237G>T p.D1413Y Missense 36/40 - 1
8-28956744-A-G c.4230T>C p.S1410= Synonymous 36/40 - 1
8-28956745-CT-GC c.4228_4229delinsGC p.S1410A Missense 36/40 - 1
8-28956749-C-A c.4225G>T p.E1409* Nonsense 36/40 - 1
8-28959739-G-A c.4216-2981C>T - IntronicSNV - 35/39 1
8-28962576-C-T c.4215+3080G>A - IntronicSNV - 35/39 1
8-28963472-TAACAGAAGAAA-T c.4215+2173_4215+2183del - IntronicDeletion - 35/39 1
8-28963772-C-T c.4215+1884G>A - IntronicSNV - 35/39 1
8-28965637-AAATAGTTAAAACACCT-A c.4215+3_4215+18del - IntronicDeletion - 35/39 1
8-28965656-C-G c.4215G>C p.K1405N Missense 35/40 - 1
8-28965660-T-C c.4211A>G p.N1404S Missense 35/40 - 1
8-28965667-C-A c.4204G>T p.G1402C Missense 35/40 - 1
8-28965670-G-A c.4201C>T p.L1401= Synonymous 35/40 - 1
8-28965678-G-C c.4193C>G p.S1398* Nonsense 35/40 - 1
8-28965678-G-T c.4193C>A p.S1398* Nonsense 35/40 - 1
8-28965695-TCG-CCA c.4174_4176delinsTGG p.R1392W Missense 35/40 - 1
8-28965697-G-A c.4174C>T p.R1392* Nonsense 35/40 - 1
8-28965698-G-A c.4173C>T p.S1391= Synonymous 35/40 - 2
8-28965699-CT-AG c.4171_4172inv p.S1391L Missense 35/40 - 1
8-28965701-TCC-CCA c.4168_4170delinsTGG p.G1390W Missense 35/40 - 1
8-28966870-C-T c.4161+81G>A - IntronicSNV - 34/39 2
8-28966947-T-A c.4161+4A>T - IntronicSNV - 34/39 1
8-28966955-T-C c.4157A>G p.N1386S Missense 34/40 - 1
8-28966962-T-A c.4150A>T p.N1384Y Missense 34/40 - 1
8-28966967-G-A c.4145C>T p.S1382F Missense 34/40 - 1
8-28966969-A-G c.4143T>C p.S1381= Synonymous 34/40 - 1
8-28966970-CT-GC c.4141_4142delinsGC p.S1381A Missense 34/40 - 1
8-28966972-G-C c.4140C>G p.I1380M Missense 34/40 - 1
8-28966975-A-C c.4137T>G p.S1379R Missense 34/40 - 2
8-28966975-A-G c.4137T>C p.S1379= Synonymous 34/40 - 1
8-28966976-C-A c.4136G>T p.S1379I Missense 34/40 - 1
8-28966976-C-T c.4136G>A p.S1379N Missense 34/40 - 3
8-28966978-C-A c.4134G>T p.R1378S Missense 34/40 - 1
8-28966978-C-G c.4134G>C p.R1378S Missense 34/40 - 1
8-28966994-C-T c.4118G>A p.G1373E Missense 34/40 - 1
8-28967008-C-T c.4104G>A p.Q1368= Synonymous 34/40 - 1
8-28967010-G-C c.4102C>G p.Q1368E Missense 34/40 - 1
8-28967019-C-A c.4093G>T p.V1365L Missense 34/40 - 1
8-28967304-G-T c.4083+131C>A - IntronicSNV - 33/39 1
8-28967439-C-T c.4079G>A p.R1360H Missense 33/40 - 1
8-28967440-G-A c.4078C>T p.R1360C Missense 33/40 - 1
8-28967445-C-G c.4073G>C p.R1358P Missense 33/40 - 1
8-28967445-C-T c.4073G>A p.R1358H Missense 33/40 - 1
8-28967446-G-A c.4072C>T p.R1358C Missense 33/40 - 6
8-28967452-A-G c.4066T>C p.L1356= Synonymous 33/40 - 1
8-28967452-A-T c.4066T>A p.L1356I Missense 33/40 - 2
8-28967456-C-A c.4062G>T p.L1354= Synonymous 33/40 - 1
8-28967479-C-T c.4039G>A p.V1347M Missense 33/40 - 2
8-28967483-C-A c.4035G>T p.R1345S Missense 33/40 - 1
8-28967484-C-T c.4034G>A p.R1345K Missense 33/40 - 1
8-28967486-G-A c.4032C>T p.L1344= Synonymous 33/40 - 2
8-28967486-G-C c.4032C>G p.L1344= Synonymous 33/40 - 2
8-28967486-G-T c.4032C>A p.L1344= Synonymous 33/40 - 2
8-28967487-A-G c.4031T>C p.L1344P Missense 33/40 - 2
8-28967501-A-C c.4017T>G p.Y1339* Nonsense 33/40 - 1
8-28967501-A-T c.4017T>A p.Y1339* Nonsense 33/40 - 1
8-28967510-C-A c.4008G>T p.S1336= Synonymous 33/40 - 1
8-28967510-C-G c.4008G>C p.S1336= Synonymous 33/40 - 1
8-28967510-C-T c.4008G>A p.S1336= Synonymous 33/40 - 2
8-28967511-G-A c.4007C>T p.S1336L Missense 33/40 - 1
8-28967517-G-C c.4001C>G p.A1334G Missense 33/40 - 1
8-28967520-G-A c.3998C>T p.S1333F Missense 33/40 - 1
8-28967538-T-C c.3980A>G p.N1327S Missense 33/40 - 1
8-28967542-C-T c.3976G>A p.A1326T Missense 33/40 - 2
8-28967555-TA-T c.3962del p.L1321* Frameshift 33/40 - 1
8-28967559-G-A c.3959C>T p.A1320V Missense 33/40 - 1
8-28967560-C-A c.3958G>T p.A1320S Missense 33/40 - 1
8-28967563-C-T c.3955G>A p.E1319K Missense 33/40 - 1
8-28967565-C-T c.3953G>A p.R1318Q Missense 33/40 - 1
8-28967564-C-A c.3954G>T p.R1318= Synonymous 33/40 - 1
8-28967564-C-G c.3954G>C p.R1318= Synonymous 33/40 - 1
8-28967564-C-T c.3954G>A p.R1318= Synonymous 33/40 - 1
8-28967566-G-T c.3952C>A p.R1318= Synonymous 33/40 - 1
8-28967572-C-T c.3946G>A p.E1316K Missense 33/40 - 1
8-28967573-C-A c.3945G>T p.V1315= Synonymous 33/40 - 1
8-28967579-C-A c.3939G>T p.Q1313H Missense 33/40 - 1
8-28967579-C-G c.3939G>C p.Q1313H Missense 33/40 - 1
8-28967581-G-A c.3937C>T p.Q1313* Nonsense 33/40 - 1
8-28967679-C-T c.3931-92G>A - IntronicSNV - 32/39 4
8-28968243-G-A c.3931-656C>T - IntronicSNV - 32/39 1
8-28970865-C-G c.3930+115G>C - IntronicSNV - 32/39 3
8-28970985-G-T c.3925C>A p.P1309T Missense 32/40 - 1
8-28970989-A-G c.3921T>C p.N1307= Synonymous 32/40 - 1
8-28971028-A-C c.3882T>G p.S1294= Synonymous 32/40 - 1
8-28971028-A-G c.3882T>C p.S1294= Synonymous 32/40 - 1
8-28971028-A-T c.3882T>A p.S1294= Synonymous 32/40 - 1
8-28971032-C-T c.3878G>A p.S1293N Missense 32/40 - 2
8-28971035-C-T c.3875G>A p.R1292Q Missense 32/40 - 4
8-28971041-G-A c.3869C>T p.S1290F Missense 32/40 - 1
8-28971046-C-CT c.3863dup p.M1289Dfs*15 Frameshift 32/40 - 1
8-28971046-CT-C c.3863del p.K1288Rfs*13 Frameshift 32/40 - 1
8-28971058-A-G c.3852T>C p.S1284= Synonymous 32/40 - 1
8-28971063-G-C c.3847C>G p.Q1283E Missense 32/40 - 3
8-28971067-A-C c.3843T>G p.F1281L Missense 32/40 - 1
8-28971067-A-T c.3843T>A p.F1281L Missense 32/40 - 1
8-28971069-A-G c.3841T>C p.F1281L Missense 32/40 - 1
8-28972831-TA-T c.3837+1516del - IntronicDeletion - 31/39 1
8-28974337-T-A c.3837+11A>T - IntronicSNV - 31/39 1
8-28974347-C-A c.3837+1G>T - IntronicSNV - 31/39 1
8-28974349-T-A c.3836A>T p.Q1279L Missense 31/40 - 2
8-28974353-G-A c.3832C>T p.R1278C Missense 31/40 - 1
8-28974356-C-A c.3829G>T p.G1277C Missense 31/40 - 2
8-28974357-G-C c.3828C>G p.H1276Q Missense 31/40 - 2
8-28974357-G-T c.3828C>A p.H1276Q Missense 31/40 - 2
8-28974361-A-G c.3824T>C p.V1275A Missense 31/40 - 2
8-28974364-T-A c.3821A>T p.N1274I Missense 31/40 - 1
8-28974364-T-C c.3821A>G p.N1274S Missense 31/40 - 3
8-28974366-G-A c.3819C>T p.V1273= Synonymous 31/40 - 1
8-28974366-G-C c.3819C>G p.V1273= Synonymous 31/40 - 1
8-28974366-G-T c.3819C>A p.V1273= Synonymous 31/40 - 1
8-28974369-A-G c.3816T>C p.C1272= Synonymous 31/40 - 1
8-28974373-A-G c.3812T>C p.I1271T Missense 31/40 - 1
8-28974375-T-C c.3810A>G p.R1270= Synonymous 31/40 - 1
8-28974376-C-A c.3809G>T p.R1270I Missense 31/40 - 4
8-28974376-C-T c.3809G>A p.R1270K Missense 31/40 - 1
8-28974379-T-G c.3806A>C p.K1269T Missense 31/40 - 1
8-28974379-TT-GC c.3805_3806delinsGC p.K1269A Missense 31/40 - 1
8-28974382-C-T c.3803G>A p.R1268H Missense 31/40 - 2
8-28974383-G-A c.3802C>T p.R1268C Missense 31/40 - 3
8-28974384-T-C c.3801A>G p.L1267= Synonymous 31/40 - 1
8-28974387-CAC-GAT c.3796_3798delinsATC p.V1266I Missense 31/40 - 1
8-28974388-A-G c.3797T>C p.V1266A Missense 31/40 - 1
8-28974391-A-G c.3794T>C p.L1265P Missense 31/40 - 2
8-28974393-T-C c.3792A>G p.Q1264= Synonymous 31/40 - 1
8-28974398-T-A c.3787A>T p.M1263L Missense 31/40 - 1
8-28974406-G-T c.3779C>A p.P1260H Missense 31/40 - 1
8-28974407-G-A c.3778C>T p.P1260S Missense 31/40 - 1
8-28974408-G-A c.3777C>T p.H1259= Synonymous 31/40 - 1
8-28974412-C-A c.3773G>T p.S1258I Missense 31/40 - 1
8-28974412-C-T c.3773G>A p.S1258N Missense 31/40 - 2
8-28974424-G-A c.3761C>T p.T1254M Missense 31/40 - 1
8-28974428-C-T c.3757G>A p.V1253M Missense 31/40 - 1
8-28974430-C-T c.3755G>A p.R1252H Missense 31/40 - 1
8-28974434-C-T c.3751G>A p.V1251M Missense 31/40 - 1
8-28974435-G-A c.3750C>T p.I1250= Synonymous 31/40 - 1
8-28974435-G-T c.3750C>A p.I1250= Synonymous 31/40 - 1
8-28974438-C-A c.3747G>T p.L1249= Synonymous 31/40 - 1
8-28974438-C-G c.3747G>C p.L1249= Synonymous 31/40 - 1
8-28974438-C-T c.3747G>A p.L1249= Synonymous 31/40 - 1
8-28974440-G-A c.3745C>T p.L1249= Synonymous 31/40 - 1
8-28974439-A-G c.3746T>C p.L1249P Missense 31/40 - 2
8-28974443-A-T c.3742T>A p.F1248I Missense 31/40 - 1
8-28974459-G-A c.3726C>T p.P1242= Synonymous 31/40 - 1
8-28974459-G-C c.3726C>G p.P1242= Synonymous 31/40 - 1
8-28974459-G-T c.3726C>A p.P1242= Synonymous 31/40 - 1
8-28974462-C-A c.3723G>T p.T1241= Synonymous 31/40 - 3
8-28974462-C-G c.3723G>C p.T1241= Synonymous 31/40 - 3
8-28974462-C-T c.3723G>A p.T1241= Synonymous 31/40 - 4
8-28974463-G-A c.3722C>T p.T1241M Missense 31/40 - 1
8-28974466-C-T c.3719G>A p.G1240D Missense 31/40 - 1
8-28974476-G-A c.3709C>T p.L1237F Missense 31/40 - 1
8-28974478-T-C c.3707A>G p.Q1236R Missense 31/40 - 3
8-28974486-G-A c.3699C>T p.G1233= Synonymous 31/40 - 1
8-28974490-T-C c.3695A>G p.H1232R Missense 31/40 - 2
8-28974497-C-T c.3688G>A p.A1230T Missense 31/40 - 1
8-28974498-G-A c.3687C>T p.S1229= Synonymous 31/40 - 2
8-28974498-G-C c.3687C>G p.S1229= Synonymous 31/40 - 1
8-28974498-G-T c.3687C>A p.S1229= Synonymous 31/40 - 1
8-28974504-C-T c.3681G>A p.W1227* Nonsense 31/40 - 5
8-28974505-C-T c.3680G>A p.W1227* Nonsense 31/40 - 2
8-28974512-C-T c.3673G>A p.A1225T Missense 31/40 - 1
8-28974514-T-C c.3671A>G p.E1224G Missense 31/40 - 1
8-28974515-C-A c.3670G>T p.E1224* Nonsense 31/40 - 1
8-28974524-C-T c.3661G>A p.V1221M Missense 31/40 - 3
8-28974974-T-C c.3661-450A>G - IntronicSNV - 30/39 1
8-28975677-TA-T c.3660+707del - IntronicDeletion - 30/39 1
8-28976291-G-T c.3660+94C>A - IntronicSNV - 30/39 1
8-28976386-T-A c.3659A>T p.E1220V Missense 30/40 - 1
8-28976394-A-G c.3651T>C p.H1217= Synonymous 30/40 - 1
8-28976399-G-T c.3646C>A p.Q1216K Missense 30/40 - 1
8-28976412-C-A c.3633G>T p.L1211F Missense 30/40 - 1
8-28976417-C-A c.3628G>T p.E1210* Nonsense 30/40 - 2
8-28976421-G-A c.3624C>T p.F1208= Synonymous 30/40 - 2
8-28976421-G-T c.3624C>A p.F1208L Missense 30/40 - 3
8-28976426-C-A c.3619G>T p.E1207* Nonsense 30/40 - 1
8-28976438-C-T c.3607G>A p.E1203K Missense 30/40 - 1
8-28976440-C-A c.3605G>T p.G1202V Missense 30/40 - 1
8-28976449-G-C c.3596C>G p.T1199S Missense 30/40 - 3
8-28976450-T-A c.3595A>T p.T1199S Missense 30/40 - 1
8-28976451-C-A c.3594G>T p.A1198= Synonymous 30/40 - 6
8-28976451-C-G c.3594G>C p.A1198= Synonymous 30/40 - 4
8-28976451-C-T c.3594G>A p.A1198= Synonymous 30/40 - 5
8-28976452-G-A c.3593C>T p.A1198V Missense 30/40 - 1
8-28976452-G-T c.3593C>A p.A1198E Missense 30/40 - 2
8-28976457-C-G c.3588G>C p.W1196C Missense 30/40 - 1
8-28976461-C-T c.3584G>A p.G1195E Missense 30/40 - 1
8-28976472-TG-T c.3572del p.P1191Qfs*10 Frameshift 30/40 - 3
8-28976483-G-T c.3562C>A p.L1188I Missense 30/40 - 1
8-28976494-G-T c.3551C>A p.S1184Y Missense 30/40 - 1
8-28976502-A-G c.3543T>C p.D1181= Synonymous 30/40 - 1
8-28976507-C-A c.3538G>T p.D1180Y Missense 30/40 - 1
8-28976509-G-A c.3536C>T p.A1179V Missense 30/40 - 1
8-28979949-C-A c.3535+159G>T - IntronicSNV - 29/39 5
8-28980026-C-T c.3535+82G>A - IntronicSNV - 29/39 1
8-28980108-C-T c.3535G>A p.A1179T Missense 29/40 - 1
8-28980110-T-C c.3533A>G p.N1178S Missense 29/40 - 1
8-28980124-T-G c.3519A>C p.I1173= Synonymous 29/40 - 1
8-28980128-A-G c.3515T>C p.V1172A Missense 29/40 - 1
8-28980137-T-A c.3506A>T p.H1169L Missense 29/40 - 1
8-28980143-T-G c.3500A>C p.E1167A Missense 29/40 - 2
8-28980155-A-G c.3488T>C p.V1163A Missense 29/40 - 2
8-28980163-C-T c.3480G>A p.W1160* Nonsense 29/40 - 3
8-28980171-G-A c.3480-8C>T - IntronicSNV - 28/39 2
8-28980587-C-T c.3479+296G>A - IntronicSNV - 28/39 1
8-28980637-T-C c.3479+246A>G - IntronicSNV - 28/39 1
8-28980902-G-C c.3460C>G p.P1154A Missense 28/40 - 1
8-28980903-A-C c.3459T>G p.I1153M Missense 28/40 - 1
8-28980905-T-C c.3457A>G p.I1153V Missense 28/40 - 2
8-28980909-A-G c.3453T>C p.S1151= Synonymous 28/40 - 1
8-28980914-C-T c.3448G>A p.G1150S Missense 28/40 - 1
8-28980916-G-A c.3446C>T p.A1149V Missense 28/40 - 3
8-28980921-G-A c.3441C>T p.P1147= Synonymous 28/40 - 1
8-28980923-G-T c.3439C>A p.P1147T Missense 28/40 - 1
8-28980926-C-G c.3436G>C p.V1146L Missense 28/40 - 1
8-28980926-C-T c.3436G>A p.V1146I Missense 28/40 - 2
8-28980929-T-A c.3433A>T p.M1145L Missense 28/40 - 1
8-28980929-T-G c.3433A>C p.M1145L Missense 28/40 - 1
8-28980933-C-A c.3429G>T p.A1143= Synonymous 28/40 - 1
8-28980933-C-G c.3429G>C p.A1143= Synonymous 28/40 - 1
8-28980933-C-T c.3429G>A p.A1143= Synonymous 28/40 - 2
8-28980934-G-A c.3428C>T p.A1143V Missense 28/40 - 3
8-28980935-C-T c.3427G>A p.A1143T Missense 28/40 - 5
8-28980936-G-A c.3426C>T p.N1142= Synonymous 28/40 - 1
8-28980961-C-T c.3401G>A p.R1134Q Missense 28/40 - 2
8-28980966-C-T c.3396G>A p.E1132= Synonymous 28/40 - 1
8-28980968-C-G c.3394G>C p.E1132Q Missense 28/40 - 2
8-28980970-A-G c.3392T>C p.L1131P Missense 28/40 - 1
8-28980979-G-A c.3383C>T p.A1128V Missense 28/40 - 1
8-28980982-T-A c.3380A>T p.E1127V Missense 28/40 - 1
8-28980985-C-T c.3377G>A p.R1126H Missense 28/40 - 5
8-28980986-G-A c.3376C>T p.R1126C Missense 28/40 - 4
8-28980991-G-C c.3371C>G p.A1124G Missense 28/40 - 1
8-28980995-C-G c.3367G>C p.D1123H Missense 28/40 - 1
8-28980998-C-T c.3364G>A p.D1122N Missense 28/40 - 1
8-28980999-C-T c.3363G>A p.E1121= Synonymous 28/40 - 1
8-28981005-T-C c.3357A>G p.K1119= Synonymous 28/40 - 1
8-28981006-T-G c.3356A>C p.K1119T Missense 28/40 - 1
8-28981063-T-G c.3353-54A>C - IntronicSNV - 27/39 5
8-28981540-C-A c.3352+1G>T - IntronicSNV - 27/39 1
8-28981541-C-A c.3352G>T p.D1118Y Missense 27/40 - 3
8-28981541-C-T c.3352G>A p.D1118N Missense 27/40 - 1
8-28981543-C-A c.3350G>T p.R1117L Missense 27/40 - 1
8-28981544-G-A c.3349C>T p.R1117C Missense 27/40 - 1
8-28981550-T-C c.3343A>G p.S1115G Missense 27/40 - 2
8-28981558-T-C c.3335A>G p.K1112R Missense 27/40 - 1
8-28981566-T-C c.3327A>G p.Q1109= Synonymous 27/40 - 2
8-28981571-G-A c.3322C>T p.Q1108* Nonsense 27/40 - 1
8-28981572-A-G c.3321T>C p.D1107= Synonymous 27/40 - 1
8-28981578-G-A c.3315C>T p.Y1105= Synonymous 27/40 - 1
8-28981588-C-T c.3305G>A p.R1102H Missense 27/40 - 4
8-28981589-G-A c.3304C>T p.R1102C Missense 27/40 - 2
8-28981601-C-T c.3292G>A p.A1098T Missense 27/40 - 1
8-28981604-T-C c.3289A>G p.N1097D Missense 27/40 - 1
8-28981617-ACG-CCA c.3274_3276delinsTGG p.R1092W Missense 27/40 - 1
8-28981618-C-T c.3275G>A p.R1092H Missense 27/40 - 9
8-28981619-G-A c.3274C>T p.R1092C Missense 27/40 - 4
8-28981624-C-A c.3269G>T p.R1090I Missense 27/40 - 1
8-28981626-C-T c.3267G>A p.E1089= Synonymous 27/40 - 1
8-28981635-T-C c.3258A>G p.R1086= Synonymous 27/40 - 1
8-28981636-C-A c.3257G>T p.R1086L Missense 27/40 - 1
8-28981636-C-G c.3257G>C p.R1086P Missense 27/40 - 1
8-28981636-C-T c.3257G>A p.R1086Q Missense 27/40 - 1
8-28981637-G-A c.3256C>T p.R1086* Nonsense 27/40 - 1
8-28982295-G-A c.3253-655C>T - IntronicSNV - 26/39 1
8-28983975-T-G c.3252+24A>C - IntronicSNV - 26/39 1
8-28984001-G-A c.3250C>T p.Q1084* Nonsense 26/40 - 1
8-28984013-T-A c.3238A>T p.M1080L Missense 26/40 - 1
8-28984014-G-A c.3237C>T p.D1079= Synonymous 26/40 - 1
8-28984028-C-T c.3223G>A p.E1075K Missense 26/40 - 1
8-28984042-T-C c.3223-14A>G - IntronicSNV - 25/39 4
8-28984508-A-G c.3222+131T>C - IntronicSNV - 25/39 2
8-28984572-G-A c.3222+67C>T - IntronicSNV - 25/39 5
8-28984572-G-C c.3222+67C>G - IntronicSNV - 25/39 4
8-28984638-C-T c.3222+1G>A - IntronicSNV - 25/39 1
8-28984647-T-C c.3214A>G p.T1072A Missense 25/40 - 1
8-28984651-A-G c.3210T>C p.H1070= Synonymous 25/40 - 1
8-28984654-TG-CA c.3206_3207inv p.T1069M Missense 25/40 - 1
8-28984665-C-T c.3196G>A p.A1066T Missense 25/40 - 1
8-28984666-TCT-CCA c.3193_3195delinsTGG p.R1065W Missense 25/40 - 1
8-28984672-C-A c.3189G>T p.P1063= Synonymous 25/40 - 1
8-28984672-C-G c.3189G>C p.P1063= Synonymous 25/40 - 1
8-28984672-C-T c.3189G>A p.P1063= Synonymous 25/40 - 1
8-28984697-C-A c.3164G>T p.G1055V Missense 25/40 - 1
8-28984703-G-A c.3158C>T p.S1053F Missense 25/40 - 2
8-28984711-A-G c.3150T>C p.C1050= Synonymous 25/40 - 2
8-28984712-C-T c.3149G>A p.C1050Y Missense 25/40 - 4
8-28984717-T-A c.3144A>T p.E1048D Missense 25/40 - 1
8-28984717-T-C c.3144A>G p.E1048= Synonymous 25/40 - 1
8-28984717-T-G c.3144A>C p.E1048D Missense 25/40 - 1
8-28984733-G-A c.3128C>T p.T1043I Missense 25/40 - 2
8-28984736-C-G c.3125G>C p.G1042A Missense 25/40 - 1
8-28984738-A-C c.3123T>G p.S1041= Synonymous 25/40 - 1
8-28984738-A-G c.3123T>C p.S1041= Synonymous 25/40 - 1
8-28984738-A-T c.3123T>A p.S1041= Synonymous 25/40 - 1
8-28984743-C-T c.3118G>A p.E1040K Missense 25/40 - 5
8-28984749-C-A c.3112G>T p.V1038L Missense 25/40 - 1
8-28984749-C-G c.3112G>C p.V1038L Missense 25/40 - 1
8-28984750-TGA-GTT c.3109_3111delinsAAC p.S1037N Missense 25/40 - 1
8-28984753-C-T c.3108G>A p.K1036= Synonymous 25/40 - 1
8-28984759-T-A c.3102A>T p.E1034D Missense 25/40 - 1
8-28984759-T-G c.3102A>C p.E1034D Missense 25/40 - 1
8-28984764-C-T c.3097G>A p.V1033I Missense 25/40 - 1
8-28984767-G-A c.3094C>T p.Q1032* Nonsense 25/40 - 1
8-28987934-A-T c.3075+116T>A - IntronicSNV - 24/39 1
8-28988028-T-C c.3075+22A>G - IntronicSNV - 24/39 1
8-28988049-C-A c.3075+1G>T - IntronicSNV - 24/39 1
8-28988049-C-T c.3075+1G>A - IntronicSNV - 24/39 1
8-28988054-C-T c.3071G>A p.R1024Q Missense 24/40 - 1
8-28988055-G-A c.3070C>T p.R1024W Missense 24/40 - 4
8-28988056-G-A c.3069C>T p.L1023= Synonymous 24/40 - 2
8-28988056-G-C c.3069C>G p.L1023= Synonymous 24/40 - 1
8-28988056-G-T c.3069C>A p.L1023= Synonymous 24/40 - 2
8-28988061-G-A c.3064C>T p.Q1022* Nonsense 24/40 - 5
8-28988068-T-A c.3057A>T p.G1019= Synonymous 24/40 - 1
8-28988068-T-C c.3057A>G p.G1019= Synonymous 24/40 - 2
8-28988068-T-G c.3057A>C p.G1019= Synonymous 24/40 - 1
8-28988069-C-G c.3056G>C p.G1019A Missense 24/40 - 1
8-28988072-C-T c.3053G>A p.G1018E Missense 24/40 - 1
8-28988074-T-A c.3051A>T p.T1017= Synonymous 24/40 - 1
8-28988074-T-C c.3051A>G p.T1017= Synonymous 24/40 - 1
8-28988074-T-G c.3051A>C p.T1017= Synonymous 24/40 - 1
8-28988075-G-C c.3050C>G p.T1017R Missense 24/40 - 1
8-28988075-G-T c.3050C>A p.T1017K Missense 24/40 - 1
8-28988081-A-G c.3044T>C p.V1015A Missense 24/40 - 1
8-28988082-C-A c.3043G>T p.V1015F Missense 24/40 - 4
8-28988084-T-G c.3041A>C p.D1014A Missense 24/40 - 1
8-28988091-C-A c.3034G>T p.A1012S Missense 24/40 - 1
8-28988097-T-C c.3028A>G p.I1010V Missense 24/40 - 1
8-28988108-G-A c.3017C>T p.P1006L Missense 24/40 - 1
8-28988108-G-C c.3017C>G p.P1006R Missense 24/40 - 1
8-28988108-G-T c.3017C>A p.P1006H Missense 24/40 - 2
8-28988111-C-T c.3014G>A p.C1005Y Missense 24/40 - 1
8-28988124-T-C c.3001A>G p.N1001D Missense 24/40 - 3
8-28988131-C-A c.2994G>T p.Q998H Missense 24/40 - 1
8-28988131-C-G c.2994G>C p.Q998H Missense 24/40 - 1
8-28988133-G-T c.2992C>A p.Q998K Missense 24/40 - 3
8-28988140-G-C c.2985C>G p.I995M Missense 24/40 - 1
8-28988141-A-G c.2984T>C p.I995T Missense 24/40 - 1
8-28988149-C-T c.2976G>A p.W992* Nonsense 24/40 - 1
8-28988157-C-G c.2968G>C p.E990Q Missense 24/40 - 1
8-28988158-C-A c.2967G>T p.L989F Missense 24/40 - 2
8-28988158-C-G c.2967G>C p.L989F Missense 24/40 - 2
8-28988161-T-A c.2964A>T p.K988N Missense 24/40 - 1
8-28988161-T-G c.2964A>C p.K988N Missense 24/40 - 1
8-28988165-C-T c.2960G>A p.R987K Missense 24/40 - 1
8-28988170-C-A c.2955G>T p.V985= Synonymous 24/40 - 1
8-28988170-C-G c.2955G>C p.V985= Synonymous 24/40 - 1
8-28988170-C-T c.2955G>A p.V985= Synonymous 24/40 - 2
8-28988176-A-G c.2949T>C p.S983= Synonymous 24/40 - 1
8-28988385-A-G c.2943-203T>C - IntronicSNV - 23/39 2
8-28988400-A-T c.2943-218T>A - IntronicSNV - 23/39 1
8-28989687-CCA-C c.2942+137_2942+138del - IntronicDeletion - 23/39 1
8-28989748-GTGAA-G c.2942+73_2942+76del - IntronicDeletion - 23/39 1
8-28989789-T-C c.2942+36A>G - IntronicSNV - 23/39 4
8-28989824-C-T c.2942+1G>A - IntronicSNV - 23/39 1
8-28989830-CC-AT c.2936_2937delinsAT p.R979H Missense 23/40 - 1
8-28989832-G-A c.2935C>T p.R979W Missense 23/40 - 9
8-28989839-ACG-CCA c.2926_2928delinsTGG p.R976W Missense 23/40 - 1
8-28989840-C-T c.2927G>A p.R976H Missense 23/40 - 2
8-28989841-G-T c.2926C>A p.R976S Missense 23/40 - 1
8-28989844-T-C c.2923A>G p.T975A Missense 23/40 - 1
8-28989849-G-A c.2918C>T p.A973V Missense 23/40 - 1
8-28989849-G-C c.2918C>G p.A973G Missense 23/40 - 1
8-28989849-G-T c.2918C>A p.A973E Missense 23/40 - 1
8-28989852-T-C c.2915A>G p.Q972R Missense 23/40 - 1
8-28989853-G-A c.2914C>T p.Q972* Nonsense 23/40 - 1
8-28989859-T-C c.2908A>G p.I970V Missense 23/40 - 1
8-28989861-C-G c.2906G>C p.G969A Missense 23/40 - 1
8-28989876-G-C c.2891C>G p.A964G Missense 23/40 - 1
8-28989877-C-G c.2890G>C p.A964P Missense 23/40 - 1
8-28989877-C-T c.2890G>A p.A964T Missense 23/40 - 6
8-28989880-G-C c.2887C>G p.P963A Missense 23/40 - 1
8-28989881-G-C c.2886C>G p.N962K Missense 23/40 - 1
8-28989881-G-T c.2886C>A p.N962K Missense 23/40 - 2
8-28989882-T-G c.2885A>C p.N962T Missense 23/40 - 1
8-28989886-T-C c.2881A>G p.K961E Missense 23/40 - 1
8-28989888-C-A c.2879G>T p.R960L Missense 23/40 - 1
8-28989888-C-T c.2879G>A p.R960Q Missense 23/40 - 1
8-28989889-G-A c.2878C>T p.R960W Missense 23/40 - 2
8-28989895-C-T c.2872G>A p.D958N Missense 23/40 - 1
8-28989896-G-A c.2871C>T p.N957= Synonymous 23/40 - 1
8-28989897-T-C c.2870A>G p.N957S Missense 23/40 - 1
8-28989902-T-A c.2865A>T p.K955N Missense 23/40 - 2
8-28989902-T-G c.2865A>C p.K955N Missense 23/40 - 4
8-28989905-A-G c.2862T>C p.H954= Synonymous 23/40 - 1
8-28989907-G-T c.2860C>A p.H954N Missense 23/40 - 1
8-28989914-TAC-CAT c.2851_2853delinsATG p.V951M Missense 23/40 - 1
8-28989925-C-T c.2842G>A p.A948T Missense 23/40 - 1
8-28989933-C-T c.2834G>A p.G945E Missense 23/40 - 2
8-28989934-C-A c.2833G>T p.G945* Nonsense 23/40 - 1
8-28989937-C-T c.2830G>A p.E944K Missense 23/40 - 4
8-28989949-C-T c.2818G>A p.E940K Missense 23/40 - 2
8-28989950-G-A c.2817C>T p.I939= Synonymous 23/40 - 1
8-28989950-G-C c.2817C>G p.I939M Missense 23/40 - 1
8-28989953-A-G c.2814T>C p.F938= Synonymous 23/40 - 1
8-28989958-C-A c.2809G>T p.D937Y Missense 23/40 - 1
8-28989960-T-C c.2807A>G p.E936G Missense 23/40 - 1
8-28989961-C-G c.2806G>C p.E936Q Missense 23/40 - 3
8-28989961-C-T c.2806G>A p.E936K Missense 23/40 - 1
8-28989972-A-G c.2795T>C p.V932A Missense 23/40 - 1
8-28989982-C-A c.2785G>T p.E929* Nonsense 23/40 - 1
8-28991405-A-G c.2784+152T>C - IntronicSNV - 22/39 2
8-28991558-T-C c.2783A>G p.N928S Missense 22/40 - 1
8-28991565-G-A c.2776C>T p.H926Y Missense 22/40 - 1
8-28991565-G-C c.2776C>G p.H926D Missense 22/40 - 1
8-28991565-G-T c.2776C>A p.H926N Missense 22/40 - 1
8-28991570-A-G c.2771T>C p.F924S Missense 22/40 - 1
8-28991579-A-G c.2762T>C p.M921T Missense 22/40 - 2
8-28991580-T-C c.2761A>G p.M921V Missense 22/40 - 1
8-28991581-G-A c.2760C>T p.C920= Synonymous 22/40 - 1
8-28991582-CA-GT c.2758_2759delinsAC p.C920T Missense 22/40 - 1
8-28991587-C-A c.2754G>T p.P918= Synonymous 22/40 - 2
8-28991587-C-G c.2754G>C p.P918= Synonymous 22/40 - 2
8-28991587-C-T c.2754G>A p.P918= Synonymous 22/40 - 3
8-28991590-C-A c.2751G>T p.E917D Missense 22/40 - 1
8-28991590-C-G c.2751G>C p.E917D Missense 22/40 - 1
8-28991604-A-C c.2737T>G p.S913A Missense 22/40 - 1
8-28991606-G-A c.2735C>T p.S912F Missense 22/40 - 1
8-28991606-G-T c.2735C>A p.S912Y Missense 22/40 - 2
8-28991607-A-G c.2734T>C p.S912P Missense 22/40 - 1
8-28991608-G-A c.2733C>T p.S911= Synonymous 22/40 - 1
8-28991620-CAC-GAT c.2719_2721delinsATC p.V907I Missense 22/40 - 1
8-28991638-CAC-GAT c.2701_2703delinsATC p.V901I Missense 22/40 - 1
8-28991641-C-T c.2700G>A p.P900= Synonymous 22/40 - 1
8-28991642-G-A c.2699C>T p.P900L Missense 22/40 - 1
8-28991651-T-C c.2690A>G p.Q897R Missense 22/40 - 1
8-28991654-T-TC c.2686dup p.D896Gfs*11 Frameshift 22/40 - 1
8-28991674-G-C c.2667C>G p.F889L Missense 22/40 - 1
8-28991674-G-T c.2667C>A p.F889L Missense 22/40 - 1
8-28991676-A-G c.2665T>C p.F889L Missense 22/40 - 1
8-28991683-G-A c.2658C>T p.H886= Synonymous 22/40 - 1
8-28991685-G-A c.2656C>T p.H886Y Missense 22/40 - 1
8-28991690-A-C c.2651T>G p.L884R Missense 22/40 - 1
8-28991690-A-G c.2651T>C p.L884P Missense 22/40 - 1
8-28991691-G-C c.2650C>G p.L884V Missense 22/40 - 1
8-28991695-C-A c.2646G>T p.Q882H Missense 22/40 - 1
8-28991695-C-G c.2646G>C p.Q882H Missense 22/40 - 1
8-28991704-C-A c.2637G>T p.G879= Synonymous 22/40 - 3
8-28991705-C-T c.2636G>A p.G879E Missense 22/40 - 1
8-28991712-C-T c.2629G>A p.A877T Missense 22/40 - 1
8-28991715-G-A c.2626C>T p.Q876* Nonsense 22/40 - 1
8-28991716-C-T c.2625G>A p.L875= Synonymous 22/40 - 4
8-28991718-G-T c.2623C>A p.L875M Missense 22/40 - 2
8-28991727-C-T c.2614G>A p.V872I Missense 22/40 - 1
8-28992041-A-G c.2614-314T>C - IntronicSNV - 21/39 1
8-28994859-A-G c.2613+2721T>C - IntronicSNV - 21/39 1
8-28995022-A-G c.2613+2558T>C - IntronicSNV - 21/39 1
8-28995022-A-T c.2613+2558T>A - IntronicSNV - 21/39 1
8-28995891-G-A c.2613+1689C>T - IntronicSNV - 21/39 1
8-28996540-G-A c.2613+1040C>T - IntronicSNV - 21/39 1
8-28996540-G-T c.2613+1040C>A - IntronicSNV - 21/39 1
8-28997044-C-G c.2613+536G>C - IntronicSNV - 21/39 1
8-28997044-C-T c.2613+536G>A - IntronicSNV - 21/39 1
8-28997303-T-TG c.2613+276dup - IntronicInsertion - 21/39 1
8-28997554-A-G c.2613+26T>C - IntronicSNV - 21/39 1
8-28997580-C-T c.2613G>A p.M871I Missense 21/40 - 1
8-28997585-A-G c.2608T>C p.C870R Missense 21/40 - 1
8-28997601-C-A c.2592G>T p.Q864H Missense 21/40 - 1
8-28997601-C-T c.2592G>A p.Q864= Synonymous 21/40 - 1
8-28997604-G-A c.2589C>T p.T863= Synonymous 21/40 - 1
8-28997604-G-C c.2589C>G p.T863= Synonymous 21/40 - 1
8-28997609-C-T c.2584G>A p.E862K Missense 21/40 - 1
8-28997610-C-T c.2583G>A p.K861= Synonymous 21/40 - 1
8-28997611-T-G c.2582A>C p.K861T Missense 21/40 - 1
8-28997613-TC-T c.2580del p.K861Rfs*41 Frameshift 21/40 - 1
8-28997615-C-G c.2578G>C p.E860Q Missense 21/40 - 1
8-28997616-A-AG c.2576_2577insC p.E860* Nonsense 21/40 - 1
8-28997622-G-A c.2571C>T p.V857= Synonymous 21/40 - 2
8-28997625-C-A c.2568G>T p.E856D Missense 21/40 - 2
8-28997625-C-G c.2568G>C p.E856D Missense 21/40 - 1
8-28997627-C-A c.2566G>T p.E856* Nonsense 21/40 - 1
8-28997630-C-T c.2563G>A p.A855T Missense 21/40 - 5
8-28997641-C-T c.2552G>A p.G851D Missense 21/40 - 1
8-28997642-C-T c.2551G>A p.G851S Missense 21/40 - 1
8-28997647-G-A c.2546C>T p.A849V Missense 21/40 - 1
8-28997649-G-A c.2544C>T p.I848= Synonymous 21/40 - 2
8-28997649-G-T c.2544C>A p.I848= Synonymous 21/40 - 1
8-28997653-C-T c.2540G>A p.R847K Missense 21/40 - 2
8-28997653-CT-TG c.2539_2540delinsCA p.R847Q Missense 21/40 - 1
8-28997656-T-G c.2537A>C p.E846A Missense 21/40 - 2
8-28997663-C-T c.2530G>A p.V844I Missense 21/40 - 1
8-28997665-T-A c.2528A>T p.D843V Missense 21/40 - 2
8-28997666-C-A c.2527G>T p.D843Y Missense 21/40 - 1
8-28997674-A-C c.2519T>G p.L840R Missense 21/40 - 2
8-28997676-TCG-ACA c.2515_2517delinsTGT p.R839C Missense 21/40 - 1
8-28997677-C-T c.2516G>A p.R839Q Missense 21/40 - 1
8-28997678-G-A c.2515C>T p.R839* Nonsense 21/40 - 2
8-28997683-A-G c.2510T>C p.V837A Missense 21/40 - 1
8-28997690-C-T c.2503G>A p.V835M Missense 21/40 - 1
8-28997694-C-A c.2499G>T p.L833= Synonymous 21/40 - 1
8-28997699-G-A c.2494C>T p.R832W Missense 21/40 - 3
8-28997701-C-T c.2492G>A p.G831D Missense 21/40 - 1
8-28997704-G-C c.2489C>G p.A830G Missense 21/40 - 1
8-28997705-C-A c.2488G>T p.A830S Missense 21/40 - 1
8-28997706-C-A c.2487G>T p.V829= Synonymous 21/40 - 1
8-28997706-C-G c.2487G>C p.V829= Synonymous 21/40 - 1
8-28997706-C-T c.2487G>A p.V829= Synonymous 21/40 - 1
8-28997708-C-A c.2485G>T p.V829L Missense 21/40 - 1
8-28997708-C-T c.2485G>A p.V829M Missense 21/40 - 1
8-28997850-A-G c.2484+135T>C - IntronicSNV - 20/39 3
8-28997985-C-T c.2484G>A p.E828= Synonymous 20/40 - 1
8-28997987-C-T c.2482G>A p.E828K Missense 20/40 - 1
8-28997989-C-T c.2480G>A p.G827E Missense 20/40 - 5
8-28997990-C-T c.2479G>A p.G827R Missense 20/40 - 1
8-28997994-C-T c.2475G>A p.Q825= Synonymous 20/40 - 2
8-28998003-G-A c.2466C>T p.I822= Synonymous 20/40 - 3
8-28998003-G-T c.2466C>A p.I822= Synonymous 20/40 - 1
8-28998004-A-T c.2465T>A p.I822N Missense 20/40 - 1
8-28998007-G-A c.2462C>T p.P821L Missense 20/40 - 1
8-28998013-G-T c.2456C>A p.A819D Missense 20/40 - 1
8-28998015-G-A c.2454C>T p.Y818= Synonymous 20/40 - 2
8-28998029-C-A c.2440G>T p.V814L Missense 20/40 - 1
8-28998029-C-T c.2440G>A p.V814M Missense 20/40 - 1
8-28998038-A-C c.2431T>G p.F811V Missense 20/40 - 1
8-28998039-A-G c.2430T>C p.L810= Synonymous 20/40 - 1
8-28998043-G-C c.2426C>G p.S809* Nonsense 20/40 - 1
8-28998043-G-T c.2426C>A p.S809* Nonsense 20/40 - 1
8-28998057-A-G c.2412T>C p.N804= Synonymous 20/40 - 1
8-28998058-T-C c.2411A>G p.N804S Missense 20/40 - 2
8-28998067-C-T c.2402G>A p.G801E Missense 20/40 - 4
8-28998068-C-T c.2401G>A p.G801R Missense 20/40 - 1
8-28998070-A-G c.2399T>C p.I800T Missense 20/40 - 1
8-28998072-G-C c.2397C>G p.L799= Synonymous 20/40 - 2
8-28998099-G-T c.2370C>A p.F790L Missense 20/40 - 1
8-28998101-A-G c.2368T>C p.F790L Missense 20/40 - 1
8-28998104-G-A c.2365C>T p.P789S Missense 20/40 - 2
8-28998105-A-G c.2364T>C p.D788= Synonymous 20/40 - 1
8-28998112-C-T c.2357G>A p.R786H Missense 20/40 - 3
8-28998113-G-A c.2356C>T p.R786C Missense 20/40 - 4
8-28998120-G-A c.2349C>T p.Y783= Synonymous 20/40 - 1
8-28998123-TG-AC c.2345_2346delinsGT p.S782C Missense 20/40 - 1
8-28998127-C-A c.2342G>T p.R781L Missense 20/40 - 1
8-28998127-C-T c.2342G>A p.R781Q Missense 20/40 - 1
8-28998128-G-A c.2341C>T p.R781* Nonsense 20/40 - 1
8-28998134-C-A c.2335G>T p.V779L Missense 20/40 - 3
8-28998134-C-G c.2335G>C p.V779L Missense 20/40 - 1
8-28998179-A-G c.2335-45T>C - IntronicSNV - 19/39 5
8-28999675-G-A c.2333C>T p.P778L Missense 19/40 - 3
8-28999679-T-C c.2329A>G p.N777D Missense 19/40 - 1
8-28999680-A-G c.2328T>C p.D776= Synonymous 19/40 - 1
8-28999688-C-T c.2320G>A p.E774K Missense 19/40 - 7
8-28999694-C-T c.2314G>A p.E772K Missense 19/40 - 1
8-28999695-T-C c.2313A>G p.K771= Synonymous 19/40 - 1
8-28999706-G-A c.2302C>T p.Q768* Nonsense 19/40 - 1
8-28999708-T-C c.2300A>G p.Y767C Missense 19/40 - 1
8-28999715-C-T c.2293G>A p.D765N Missense 19/40 - 2
8-28999716-TCT-ACA c.2290_2292delinsTGT p.R764C Missense 19/40 - 1
8-28999732-C-T c.2276G>A p.R759K Missense 19/40 - 1
8-28999737-G-C c.2271C>G p.D757E Missense 19/40 - 1
8-28999737-G-T c.2271C>A p.D757E Missense 19/40 - 1
8-28999756-C-A c.2252G>T p.W751L Missense 19/40 - 1
8-28999761-C-G c.2247G>C p.Q749H Missense 19/40 - 1
8-28999764-C-A c.2244G>T p.K748N Missense 19/40 - 1
8-28999769-C-G c.2239G>C p.G747R Missense 19/40 - 2
8-28999769-C-T c.2239G>A p.G747R Missense 19/40 - 2
8-28999775-C-T c.2233G>A p.G745R Missense 19/40 - 1
8-28999780-C-A c.2228G>T p.R743I Missense 19/40 - 1
8-28999782-TCT-ATG c.2224_2226delinsCAT p.R742H Missense 19/40 - 1
8-28999813-G-C c.2195C>G p.S732C Missense 19/40 - 1
8-28999814-A-C c.2194T>G p.S732A Missense 19/40 - 1
8-28999816-C-A c.2192G>T p.G731V Missense 19/40 - 1
8-28999818-TCG-CCA c.2188_2190delinsTGG p.R730W Missense 19/40 - 1
8-28999864-G-A c.2188-44C>T - IntronicSNV - 18/39 1
8-29003232-C-T c.2187+663G>A - IntronicSNV - 18/39 1
8-29003884-G-C c.2187+11C>G - IntronicSNV - 18/39 1
8-29003896-T-G c.2186A>C p.K729T Missense 18/40 - 1
8-29003897-T-G c.2185A>C p.K729Q Missense 18/40 - 1
8-29003898-C-A c.2184G>T p.R728S Missense 18/40 - 2
8-29003898-C-G c.2184G>C p.R728S Missense 18/40 - 1
8-29003899-C-G c.2183G>C p.R728T Missense 18/40 - 1
8-29003918-A-G c.2164T>C p.S722P Missense 18/40 - 1
8-29003919-G-A c.2163C>T p.A721= Synonymous 18/40 - 3
8-29003919-G-C c.2163C>G p.A721= Synonymous 18/40 - 2
8-29003919-G-T c.2163C>A p.A721= Synonymous 18/40 - 2
8-29003924-G-T c.2158C>A p.P720T Missense 18/40 - 1
8-29003925-A-C c.2157T>G p.I719M Missense 18/40 - 1
8-29003930-G-A c.2152C>T p.Q718* Nonsense 18/40 - 1
8-29003933-G-T c.2149C>A p.L717I Missense 18/40 - 1
8-29003936-T-C c.2146A>G p.T716A Missense 18/40 - 1
8-29003937-A-C c.2145T>G p.V715= Synonymous 18/40 - 1
8-29003937-A-G c.2145T>C p.V715= Synonymous 18/40 - 1
8-29003937-A-T c.2145T>A p.V715= Synonymous 18/40 - 1
8-29003939-C-T c.2143G>A p.V715I Missense 18/40 - 1
8-29003940-T-A c.2142A>T p.K714N Missense 18/40 - 1
8-29003940-T-G c.2142A>C p.K714N Missense 18/40 - 1
8-29003951-T-C c.2131A>G p.T711A Missense 18/40 - 1
8-29003953-C-A c.2129G>T p.R710I Missense 18/40 - 1
8-29003957-T-C c.2125A>G p.K709E Missense 18/40 - 2
8-29003964-C-T c.2118G>A p.E706= Synonymous 18/40 - 2
8-29003967-C-A c.2115G>T p.E705D Missense 18/40 - 1
8-29003967-C-G c.2115G>C p.E705D Missense 18/40 - 1
8-29003969-C-T c.2113G>A p.E705K Missense 18/40 - 1
8-29003975-T-C c.2107A>G p.I703V Missense 18/40 - 1
8-29003983-G-A c.2099C>T p.A700V Missense 18/40 - 1
8-29003994-C-T c.2088G>A p.L696= Synonymous 18/40 - 1
8-29004011-C-T c.2071G>A p.V691I Missense 18/40 - 1
8-29004012-A-C c.2070T>G p.I690M Missense 18/40 - 1
8-29004025-A-G c.2057T>C p.L686P Missense 18/40 - 1
8-29004026-G-C c.2056C>G p.L686V Missense 18/40 - 1
8-29004027-C-T c.2055G>A p.R685= Synonymous 18/40 - 1
8-29004028-CT-TA c.2053_2054delinsTA p.R685* Nonsense 18/40 - 2
8-29004032-T-C c.2050A>G p.M684V Missense 18/40 - 1
8-29004039-G-A c.2043C>T p.N681= Synonymous 18/40 - 1
8-29004053-C-G c.2029G>C p.A677P Missense 18/40 - 1
8-29004182-G-A c.2025-125C>T - IntronicSNV - 17/39 1
8-29004822-T-C c.2024+87A>G - IntronicSNV - 17/39 1
8-29004903-G-A c.2024+6C>T - IntronicSNV - 17/39 1
8-29004909-C-T c.2024G>A p.R675K Missense 17/40 - 1
8-29004909-CT-GG c.2023_2024delinsCC p.R675P Missense 17/40 - 1
8-29004918-G-A c.2015C>T p.A672V Missense 17/40 - 1
8-29004919-C-T c.2014G>A p.A672T Missense 17/40 - 1
8-29004927-C-G c.2006G>C p.R669T Missense 17/40 - 1
8-29004929-TTAAGCGTTGCTGAGCGCTGGGCGAGTGGAA-T c.1975_2004del p.F659_L668del InFrameDeletion 17/40 - 1
8-29004930-AA-GG c.2002_2003delinsCC p.L668P Missense 17/40 - 1
8-29004930-A-G c.2003T>C p.L668S Missense 17/40 - 1
8-29004934-G-A c.1999C>T p.R667C Missense 17/40 - 1
8-29004938-C-T c.1995G>A p.Q665= Synonymous 17/40 - 1
8-29004940-G-C c.1993C>G p.Q665E Missense 17/40 - 1
8-29004940-G-T c.1993C>A p.Q665K Missense 17/40 - 1
8-29004943-C-G c.1990G>C p.A664P Missense 17/40 - 1
8-29004944-G-A c.1989C>T p.S663= Synonymous 17/40 - 1
8-29004944-G-T c.1989C>A p.S663R Missense 17/40 - 1
8-29004945-C-A c.1988G>T p.S663I Missense 17/40 - 1
8-29004951-G-A c.1982C>T p.S661L Missense 17/40 - 3
8-29004953-G-T c.1980C>A p.H660Q Missense 17/40 - 1
8-29004959-A-C c.1974T>G p.S658= Synonymous 17/40 - 1
8-29004959-A-G c.1974T>C p.S658= Synonymous 17/40 - 1
8-29004959-A-T c.1974T>A p.S658= Synonymous 17/40 - 1
8-29004962-A-C c.1971T>G p.F657L Missense 17/40 - 1
8-29004962-A-T c.1971T>A p.F657L Missense 17/40 - 1
8-29004964-A-G c.1969T>C p.F657L Missense 17/40 - 1
8-29004967-T-A c.1966A>T p.R656W Missense 17/40 - 1
8-29004970-C-T c.1963G>A p.D655N Missense 17/40 - 1
8-29004971-C-A c.1962G>T p.M654I Missense 17/40 - 1
8-29004971-C-G c.1962G>C p.M654I Missense 17/40 - 1
8-29004971-C-T c.1962G>A p.M654I Missense 17/40 - 1
8-29004973-T-C c.1960A>G p.M654V Missense 17/40 - 1
8-29004977-CC-AT c.1955_1956delinsAT p.R652H Missense 17/40 - 2
8-29004978-C-T c.1955G>A p.R652Q Missense 17/40 - 1
8-29004979-G-A c.1954C>T p.R652W Missense 17/40 - 1
8-29004983-G-C c.1950C>G p.N650K Missense 17/40 - 1
8-29004983-G-T c.1950C>A p.N650K Missense 17/40 - 1
8-29004989-C-A c.1944G>T p.K648N Missense 17/40 - 1
8-29004995-A-C c.1938T>G p.P646= Synonymous 17/40 - 1
8-29004995-A-G c.1938T>C p.P646= Synonymous 17/40 - 1
8-29004995-A-T c.1938T>A p.P646= Synonymous 17/40 - 1
8-29005001-C-G c.1932G>C p.L644= Synonymous 17/40 - 1
8-29005011-C-T c.1922G>A p.R641Q Missense 17/40 - 3
8-29005012-G-A c.1921C>T p.R641W Missense 17/40 - 2
8-29005013-G-A c.1920C>T p.L640= Synonymous 17/40 - 2
8-29005015-G-A c.1918C>T p.L640F Missense 17/40 - 1
8-29005024-A-T c.1909T>A p.L637M Missense 17/40 - 1
8-29005026-T-C c.1907A>G p.E636G Missense 17/40 - 1
8-29005027-C-T c.1906G>A p.E636K Missense 17/40 - 4
8-29005028-G-C c.1905C>G p.H635Q Missense 17/40 - 1
8-29005030-G-A c.1903C>T p.H635Y Missense 17/40 - 1
8-29005037-C-A c.1896G>T p.M632I Missense 17/40 - 1
8-29005037-C-G c.1896G>C p.M632I Missense 17/40 - 1
8-29005037-C-T c.1896G>A p.M632I Missense 17/40 - 1
8-29005044-C-T c.1889G>A p.R630K Missense 17/40 - 1
8-29005047-T-C c.1886A>G p.Q629R Missense 17/40 - 2
8-29005049-GC-TT c.1883_1884delinsAA p.R628Q Missense 17/40 - 1
8-29005050-C-T c.1883G>A p.R628H Missense 17/40 - 2
8-29005051-G-A c.1882C>T p.R628C Missense 17/40 - 5
8-29005052-C-A c.1881G>T p.E627D Missense 17/40 - 1
8-29005052-C-G c.1881G>C p.E627D Missense 17/40 - 1
8-29005052-C-T c.1881G>A p.E627= Synonymous 17/40 - 1
8-29005057-G-A c.1876C>T p.L626= Synonymous 17/40 - 1
8-29005062-G-A c.1871C>T p.S624F Missense 17/40 - 1
8-29005062-G-C c.1871C>G p.S624C Missense 17/40 - 1
8-29005065-C-T c.1868G>A p.R623Q Missense 17/40 - 3
8-29005066-G-A c.1867C>T p.R623* Nonsense 17/40 - 1
8-29005072-C-T c.1861G>A p.E621K Missense 17/40 - 1
8-29005074-T-C c.1859A>G p.E620G Missense 17/40 - 1
8-29005078-C-T c.1855G>A p.E619K Missense 17/40 - 3
8-29005082-C-A c.1851G>T p.Q617H Missense 17/40 - 3
8-29005082-C-G c.1851G>C p.Q617H Missense 17/40 - 2
8-29005090-C-T c.1843G>A p.E615K Missense 17/40 - 1
8-29005091-T-C c.1842A>G p.L614= Synonymous 17/40 - 5
8-29005093-A-G c.1840T>C p.L614= Synonymous 17/40 - 19
8-29005093-A-T c.1840T>A p.L614I Missense 17/40 - 3
8-29005108-A-G c.1825T>C p.S609P Missense 17/40 - 1
8-29005112-C-T c.1821G>A p.M607I Missense 17/40 - 1
8-29005128-A-C c.1814-9T>G - IntronicSNV - 16/39 1
8-29005128-A-G c.1814-9T>C - IntronicSNV - 16/39 1
8-29005143-A-G c.1814-24T>C - IntronicSNV - 16/39 5
8-29005916-C-CA c.1813+177_1813+178insT - IntronicInsertion - 16/39 1
8-29005916-C-CAT c.1813+177_1813+178insAT - IntronicInsertion - 16/39 1
8-29005916-C-CATT c.1813+177_1813+178insAAT - IntronicInsertion - 16/39 1
8-29005916-C-CATTT c.1813+177_1813+178insAAAT - IntronicInsertion - 16/39 1
8-29005916-C-CATTTTTTTTTTT c.1813+177_1813+178insAAAAAAAAAAAT - IntronicInsertion - 16/39 1
8-29005917-G-A c.1813+177C>T - IntronicSNV - 16/39 1
8-29005917-G-T c.1813+177C>A - IntronicSNV - 16/39 1
8-29006063-T-C c.1813+31A>G - IntronicSNV - 16/39 4
8-29006065-A-C c.1813+29T>G - IntronicSNV - 16/39 1
8-29006096-T-C c.1811A>G p.N604S Missense 16/40 - 1
8-29006104-CAG-AAA c.1801_1803delinsTTT p.L601F Missense 16/40 - 1
8-29006106-G-A c.1801C>T p.L601= Synonymous 16/40 - 1
8-29006109-C-T c.1798G>A p.A600T Missense 16/40 - 1
8-29006113-C-A c.1794G>T p.M598I Missense 16/40 - 1
8-29006113-C-G c.1794G>C p.M598I Missense 16/40 - 1
8-29006113-C-T c.1794G>A p.M598I Missense 16/40 - 1
8-29006114-A-G c.1793T>C p.M598T Missense 16/40 - 2
8-29006129-T-C c.1778A>G p.Q593R Missense 16/40 - 1
8-29006132-G-A c.1775C>T p.A592V Missense 16/40 - 1
8-29006133-C-A c.1774G>T p.A592S Missense 16/40 - 3
8-29006133-C-T c.1774G>A p.A592T Missense 16/40 - 1
8-29006139-C-T c.1768G>A p.E590K Missense 16/40 - 1
8-29006141-T-C c.1766A>G p.Y589C Missense 16/40 - 1
8-29006146-A-C c.1761T>G p.F587L Missense 16/40 - 1
8-29006149-G-A c.1758C>T p.N586= Synonymous 16/40 - 1
8-29006153-A-T c.1754T>A p.V585D Missense 16/40 - 2
8-29006158-A-C c.1749T>G p.S583R Missense 16/40 - 1
8-29006162-G-A c.1745C>T p.S582F Missense 16/40 - 1
8-29006170-G-A c.1737C>T p.S579= Synonymous 16/40 - 3
8-29006181-C-A c.1726G>T p.D576Y Missense 16/40 - 2
8-29006181-C-T c.1726G>A p.D576N Missense 16/40 - 1
8-29006182-TCC-GCT c.1723_1725delinsAGC p.G575S Missense 16/40 - 1
8-29006184-C-G c.1723G>C p.G575R Missense 16/40 - 1
8-29006184-C-T c.1723G>A p.G575R Missense 16/40 - 1
8-29006187-C-T c.1720G>A p.D574N Missense 16/40 - 2
8-29006194-CAG-AAA c.1711_1713delinsTTT p.L571F Missense 16/40 - 1
8-29006199-G-T c.1708C>A p.Q570K Missense 16/40 - 1
8-29006204-G-A c.1703C>T p.S568F Missense 16/40 - 3
8-29006204-G-T c.1703C>A p.S568Y Missense 16/40 - 2
8-29006212-TCTCGTTCTTCATGGAGGGATCCTGGTCCTC-T c.1666_1695del p.E556_E565del InFrameDeletion 16/40 - 1
8-29006214-C-T c.1693G>A p.E565K Missense 16/40 - 2
8-29006215-G-A c.1692C>T p.N564= Synonymous 16/40 - 3
8-29006219-T-C c.1688A>G p.K563R Missense 16/40 - 2
8-29006228-GG-AA c.1678_1679delinsTT p.P560F Missense 16/40 - 1
8-29006229-G-C c.1678C>G p.P560A Missense 16/40 - 1
8-29006238-C-A c.1669G>T p.D557Y Missense 16/40 - 1
8-29006249-C-A c.1658G>T p.R553L Missense 16/40 - 5
8-29006250-G-A c.1657C>T p.R553* Nonsense 16/40 - 4
8-29006250-G-T c.1657C>A p.R553= Synonymous 16/40 - 1
8-29006253-C-T c.1654G>A p.E552K Missense 16/40 - 1
8-29006255-G-C c.1652C>G p.A551G Missense 16/40 - 1
8-29006260-C-A c.1647G>T p.K549N Missense 16/40 - 3
8-29006260-C-G c.1647G>C p.K549N Missense 16/40 - 2
8-29006273-G-A c.1634C>T p.P545L Missense 16/40 - 1
8-29006279-T-C c.1628A>G p.N543S Missense 16/40 - 4
8-29007819-G-A c.1617C>T p.F539= Synonymous 15/40 - 1
8-29007832-C-A c.1604G>T p.G535V Missense 15/40 - 1
8-29007834-C-A c.1602G>T p.W534C Missense 15/40 - 1
8-29007834-C-G c.1602G>C p.W534C Missense 15/40 - 1
8-29007842-T-C c.1594A>G p.I532V Missense 15/40 - 1
8-29007843-CCT-ATG c.1591_1593delinsCAT p.R531H Missense 15/40 - 1
8-29007845-T-A c.1591A>T p.R531W Missense 15/40 - 1
8-29007848-C-T c.1588G>A p.D530N Missense 15/40 - 2
8-29007852-A-G c.1584T>C p.H528= Synonymous 15/40 - 2
8-29007866-T-C c.1570A>G p.I524V Missense 15/40 - 1
8-29007869-G-GA c.1566dup p.P523Sfs*24 Frameshift 15/40 - 1
8-29007871-CT-GC c.1564_1565delinsGC p.S522A Missense 15/40 - 1
8-29007871-CT-TC c.1564_1565delinsGA p.S522D Missense 15/40 - 1
8-29007873-G-A c.1563C>T p.S521= Synonymous 15/40 - 1
8-29007873-G-C c.1563C>G p.S521= Synonymous 15/40 - 1
8-29007873-G-T c.1563C>A p.S521= Synonymous 15/40 - 1
8-29007874-G-T c.1562C>A p.S521Y Missense 15/40 - 1
8-29007878-C-G c.1558G>C p.V520L Missense 15/40 - 1
8-29007885-CCC-GCT c.1549_1551delinsAGC p.G517S Missense 15/40 - 1
8-29007898-G-A c.1538C>T p.T513I Missense 15/40 - 1
8-29012908-GGAGGA-G c.1535+330_1535+334del - IntronicDeletion - 14/39 1
8-29013243-C-A c.1535G>T p.R512I Missense 14/40 - 1
8-29013245-G-A c.1533C>T p.T511= Synonymous 14/40 - 1
8-29013245-G-C c.1533C>G p.T511= Synonymous 14/40 - 1
8-29013245-G-T c.1533C>A p.T511= Synonymous 14/40 - 1
8-29013249-T-C c.1529A>G p.N510S Missense 14/40 - 1
8-29013254-C-A c.1524G>T p.Q508H Missense 14/40 - 1
8-29013254-C-G c.1524G>C p.Q508H Missense 14/40 - 1
8-29013258-G-A c.1520C>T p.P507L Missense 14/40 - 1
8-29013259-G-T c.1519C>A p.P507T Missense 14/40 - 1
8-29013261-GT-TC c.1516_1517delinsGA p.T506D Missense 14/40 - 1
8-29013262-T-C c.1516A>G p.T506A Missense 14/40 - 1
8-29013270-A-G c.1508T>C p.V503A Missense 14/40 - 1
8-29013280-C-T c.1498G>A p.E500K Missense 14/40 - 1
8-29013284-C-A c.1494G>T p.T498= Synonymous 14/40 - 1
8-29013284-C-G c.1494G>C p.T498= Synonymous 14/40 - 1
8-29013284-C-T c.1494G>A p.T498= Synonymous 14/40 - 2
8-29013285-G-A c.1493C>T p.T498M Missense 14/40 - 1
8-29013289-T-A c.1489A>T p.I497F Missense 14/40 - 1
8-29013295-T-C c.1483A>G p.I495V Missense 14/40 - 1
8-29013309-G-A c.1469C>T p.P490L Missense 14/40 - 2
8-29013310-G-A c.1468C>T p.P490S Missense 14/40 - 3
8-29013315-A-G c.1463T>C p.I488T Missense 14/40 - 1
8-29013318-C-T c.1460G>A p.G487E Missense 14/40 - 3
8-29013320-C-A c.1458G>T p.M486I Missense 14/40 - 1
8-29013320-C-G c.1458G>C p.M486I Missense 14/40 - 1
8-29013320-C-T c.1458G>A p.M486I Missense 14/40 - 1
8-29013324-C-T c.1454G>A p.G485D Missense 14/40 - 1
8-29013325-C-T c.1453G>A p.G485S Missense 14/40 - 1
8-29013329-C-A c.1449G>T p.L483= Synonymous 14/40 - 1
8-29013331-G-C c.1447C>G p.L483V Missense 14/40 - 1
8-29013352-C-T c.1426G>A p.A476T Missense 14/40 - 1
8-29013355-A-G c.1423T>C p.S475P Missense 14/40 - 1
8-29013356-C-T c.1422G>A p.G474= Synonymous 14/40 - 1
8-29013367-T-A c.1411A>T p.T471S Missense 14/40 - 1
8-29013370-G-A c.1408C>T p.H470Y Missense 14/40 - 1
8-29018117-T-C c.1404+133A>G - IntronicSNV - 13/39 1
8-29018262-C-A c.1392G>T p.V464= Synonymous 13/40 - 1
8-29018262-C-G c.1392G>C p.V464= Synonymous 13/40 - 1
8-29018262-C-T c.1392G>A p.V464= Synonymous 13/40 - 1
8-29018273-C-T c.1381G>A p.E461K Missense 13/40 - 2
8-29018279-G-C c.1375C>G p.L459V Missense 13/40 - 1
8-29018286-G-C c.1368C>G p.D456E Missense 13/40 - 1
8-29018286-G-T c.1368C>A p.D456E Missense 13/40 - 2
8-29018290-G-A c.1364C>T p.A455V Missense 13/40 - 2
8-29018291-C-A c.1363G>T p.A455S Missense 13/40 - 1
8-29018291-C-G c.1363G>C p.A455P Missense 13/40 - 1
8-29018318-C-G c.1336G>C p.D446H Missense 13/40 - 1
8-29018321-C-A c.1333G>T p.D445Y Missense 13/40 - 1
8-29018323-C-T c.1331G>A p.G444E Missense 13/40 - 2
8-29018327-C-T c.1327G>A p.V443I Missense 13/40 - 1
8-29018333-T-C c.1321A>G p.I441V Missense 13/40 - 1
8-29018338-G-A c.1316C>T p.S439L Missense 13/40 - 1
8-29018342-A-G c.1312T>C p.S438P Missense 13/40 - 1
8-29018345-G-A c.1309C>T p.Q437* Nonsense 13/40 - 1
8-29018349-A-C c.1305T>G p.S435= Synonymous 13/40 - 1
8-29018350-GA-TT c.1303_1304delinsAA p.S435N Missense 13/40 - 1
8-29018356-C-G c.1298G>C p.G433A Missense 13/40 - 2
8-29018363-T-C c.1291A>G p.S431G Missense 13/40 - 1
8-29018364-C-A c.1290G>T p.E430D Missense 13/40 - 1
8-29018364-C-G c.1290G>C p.E430D Missense 13/40 - 1
8-29018366-C-A c.1288G>T p.E430* Nonsense 13/40 - 1
8-29018366-C-G c.1288G>C p.E430Q Missense 13/40 - 1
8-29018369-G-C c.1285C>G p.L429V Missense 13/40 - 1
8-29018370-GC-G c.1284del p.Q428Hfs*24 Frameshift 13/40 - 2
8-29018374-TT-GC c.1279_1280delinsGC p.K427A Missense 13/40 - 1
8-29018377-T-C c.1277A>G p.Q426R Missense 13/40 - 1
8-29018381-G-A c.1273C>T p.R425* Nonsense 13/40 - 3
8-29018384-C-G c.1270G>C p.E424Q Missense 13/40 - 1
8-29023175-G-A c.1269+4C>T - IntronicSNV - 12/39 1
8-29023177-A-G c.1269+2T>C - IntronicSNV - 12/39 1
8-29023184-C-T c.1264G>A p.A422T Missense 12/40 - 1
8-29023188-C-T c.1260G>A p.E420= Synonymous 12/40 - 1
8-29023194-C-A c.1254G>T p.T418= Synonymous 12/40 - 1
8-29023194-C-G c.1254G>C p.T418= Synonymous 12/40 - 1
8-29023194-C-T c.1254G>A p.T418= Synonymous 12/40 - 3
8-29023195-G-A c.1253C>T p.T418M Missense 12/40 - 3
8-29023201-CT-TA c.1246_1247delinsTA p.R416* Nonsense 12/40 - 1
8-29023204-AA-GC c.1243_1244delinsGC p.L415A Missense 12/40 - 1
8-29023207-T-A c.1241A>T p.K414I Missense 12/40 - 1
8-29023207-TT-GC c.1240_1241delinsGC p.K414A Missense 12/40 - 1
8-29023209-C-A c.1239G>T p.E413D Missense 12/40 - 1
8-29023209-C-T c.1239G>A p.E413= Synonymous 12/40 - 1
8-29023212-C-T c.1236G>A p.E412= Synonymous 12/40 - 1
8-29023214-C-G c.1234G>C p.E412Q Missense 12/40 - 1
8-29023215-C-A c.1233G>T p.W411C Missense 12/40 - 1
8-29023216-C-T c.1232G>A p.W411* Nonsense 12/40 - 1
8-29023218-GG-CC c.1229_1230inv p.T410R Missense 12/40 - 1
8-29023224-A-C c.1224T>G p.T408= Synonymous 12/40 - 2
8-29023224-AGT-CTC c.1222_1224delinsGAG p.T408E Missense 12/40 - 1
8-29023225-G-C c.1223C>G p.T408S Missense 12/40 - 1
8-29023226-T-A c.1222A>T p.T408S Missense 12/40 - 1
8-29023227-C-A c.1221G>T p.M407I Missense 12/40 - 1
8-29023227-C-G c.1221G>C p.M407I Missense 12/40 - 2
8-29023227-C-T c.1221G>A p.M407I Missense 12/40 - 1
8-29023229-T-G c.1219A>C p.M407L Missense 12/40 - 1
8-29023230-T-C c.1218A>G p.E406= Synonymous 12/40 - 1
8-29023232-C-T c.1216G>A p.E406K Missense 12/40 - 1
8-29023247-C-G c.1201G>C p.E401Q Missense 12/40 - 1
8-29023247-C-T c.1201G>A p.E401K Missense 12/40 - 1
8-29023249-GA-AT c.1198_1199delinsAT p.S400I Missense 12/40 - 1
8-29023252-T-G c.1196A>C p.E399A Missense 12/40 - 1
8-29023253-C-G c.1195G>C p.E399Q Missense 12/40 - 1
8-29023253-C-T c.1195G>A p.E399K Missense 12/40 - 2
8-29023256-C-T c.1192G>A p.E398K Missense 12/40 - 2
8-29023257-C-A c.1191G>T p.L397= Synonymous 12/40 - 1
8-29023257-CAG-AAA c.1189_1191delinsTTT p.L397F Missense 12/40 - 1
8-29023257-C-G c.1191G>C p.L397= Synonymous 12/40 - 1
8-29023257-C-T c.1191G>A p.L397= Synonymous 12/40 - 1
8-29023259-G-A c.1189C>T p.L397= Synonymous 12/40 - 1
8-29023259-G-C c.1189C>G p.L397V Missense 12/40 - 1
8-29023261-CG-TA c.1186_1187delinsTA p.R396* Nonsense 12/40 - 1
8-29023261-C-T c.1187G>A p.R396Q Missense 12/40 - 1
8-29023262-G-A c.1186C>T p.R396W Missense 12/40 - 1
8-29023264-T-G c.1184A>C p.D395A Missense 12/40 - 1
8-29023265-C-T c.1183G>A p.D395N Missense 12/40 - 3
8-29023268-T-G c.1180A>C p.K394Q Missense 12/40 - 1
8-29023271-G-C c.1177C>G p.L393V Missense 12/40 - 1
8-29023279-G-A c.1169C>T p.S390F Missense 12/40 - 1
8-29023284-C-T c.1164G>A p.M388I Missense 12/40 - 1
8-29023285-A-C c.1163T>G p.M388R Missense 12/40 - 1
8-29023289-C-T c.1159G>A p.A387T Missense 12/40 - 4
8-29023336-G-A c.1159-47C>T - IntronicSNV - 11/39 1
8-29023421-T-C c.1159-132A>G - IntronicSNV - 11/39 1
8-29023516-A-C c.1159-227T>G - IntronicSNV - 11/39 1
8-29024889-C-A c.1158+1G>T - IntronicSNV - 11/39 1
8-29024899-GG-CA c.1148_1149delinsTG p.T383M Missense 11/40 - 1
8-29024910-C-G c.1138G>C p.E380Q Missense 11/40 - 1
8-29024910-C-T c.1138G>A p.E380K Missense 11/40 - 2
8-29024913-G-A c.1135C>T p.R379W Missense 11/40 - 1
8-29024916-G-C c.1132C>G p.L378V Missense 11/40 - 1
8-29024920-C-A c.1128G>T p.E376D Missense 11/40 - 1
8-29024920-C-G c.1128G>C p.E376D Missense 11/40 - 1
8-29024922-C-G c.1126G>C p.E376Q Missense 11/40 - 1
8-29024923-AA-CT c.1124_1125delinsAG p.V375E Missense 11/40 - 1
8-29024930-T-C c.1118A>G p.E373G Missense 11/40 - 1
8-29024933-C-T c.1115G>A p.R372Q Missense 11/40 - 2
8-29024934-G-A c.1114C>T p.R372W Missense 11/40 - 1
8-29024937-G-A c.1111C>T p.L371F Missense 11/40 - 3
8-29024940-C-G c.1108G>C p.D370H Missense 11/40 - 1
8-29024942-CG-TA c.1105_1106delinsTA p.R369* Nonsense 11/40 - 2
8-29024942-C-T c.1106G>A p.R369Q Missense 11/40 - 2
8-29024943-G-A c.1105C>T p.R369W Missense 11/40 - 11
8-29024944-G-A c.1104C>T p.I368= Synonymous 11/40 - 1
8-29024944-G-T c.1104C>A p.I368= Synonymous 11/40 - 1
8-29024947-AAT-CTC c.1099_1101delinsGAG p.I367E Missense 11/40 - 1
8-29024950-TC-AT c.1097_1098delinsAT p.R366H Missense 11/40 - 1
8-29024951-C-T c.1097G>A p.R366Q Missense 11/40 - 2
8-29024951-TC-T c.1097del p.R366Qfs*17 Frameshift 11/40 - 1
8-29024953-G-A c.1095C>T p.A365= Synonymous 11/40 - 2
8-29024953-G-C c.1095C>G p.A365= Synonymous 11/40 - 1
8-29024953-G-T c.1095C>A p.A365= Synonymous 11/40 - 1
8-29024955-C-G c.1093G>C p.A365P Missense 11/40 - 1
8-29024961-G-T c.1087C>A p.P363T Missense 11/40 - 1
8-29024966-T-C c.1082A>G p.E361G Missense 11/40 - 1
8-29024967-C-T c.1081G>A p.E361K Missense 11/40 - 2
8-29024971-CAC-GAT c.1075_1077delinsATC p.V359I Missense 11/40 - 2
8-29024973-C-T c.1075G>A p.V359M Missense 11/40 - 1
8-29024978-G-A c.1070C>T p.A357V Missense 11/40 - 1
8-29024978-G-C c.1070C>G p.A357G Missense 11/40 - 1
8-29024979-C-T c.1069G>A p.A357T Missense 11/40 - 1
8-29024981-T-C c.1067A>G p.H356R Missense 11/40 - 1
8-29024986-TAC-CAT c.1060_1062delinsATG p.V354M Missense 11/40 - 1
8-29024986-T-TA c.1061dup p.N355Kfs*7 Frameshift 11/40 - 1
8-29024999-G-C c.1049C>G p.A350G Missense 11/40 - 1
8-29025000-C-T c.1048G>A p.A350T Missense 11/40 - 1
8-29025001-TCG-ACA c.1045_1047delinsTGT p.R349C Missense 11/40 - 1
8-29025002-C-T c.1046G>A p.R349Q Missense 11/40 - 2
8-29025003-G-A c.1045C>T p.R349* Nonsense 11/40 - 4
8-29025009-C-T c.1039G>A p.A347T Missense 11/40 - 1
8-29025013-CC-AT c.1034_1035delinsAT p.R345H Missense 11/40 - 1
8-29025013-C-T c.1035G>A p.R345= Synonymous 11/40 - 1
8-29025014-C-A c.1034G>T p.R345L Missense 11/40 - 1
8-29025015-G-A c.1033C>T p.R345W Missense 11/40 - 4
8-29025018-G-A c.1030C>T p.L344= Synonymous 11/40 - 1
8-29025018-G-T c.1030C>A p.L344M Missense 11/40 - 1
8-29025022-TG-AA c.1025_1026delinsTT p.S342F Missense 11/40 - 1
8-29025023-G-C c.1025C>G p.S342* Nonsense 11/40 - 5
8-29025023-G-T c.1025C>A p.S342* Nonsense 11/40 - 4
8-29025027-G-A c.1021C>T p.L341F Missense 11/40 - 3
8-29025038-T-C c.1010A>G p.Y337C Missense 11/40 - 1
8-29025041-T-C c.1007A>G p.N336S Missense 11/40 - 3
8-29025043-A-G c.1005T>C p.D335= Synonymous 11/40 - 1
8-29025050-G-T c.998C>A p.A333E Missense 11/40 - 1
8-29025051-C-A c.997G>T p.A333S Missense 11/40 - 1
8-29025053-G-T c.995C>A p.P332H Missense 11/40 - 1
8-29025054-G-A c.994C>T p.P332S Missense 11/40 - 1
8-29025058-CAC-GAT c.988_990delinsATC p.V330I Missense 11/40 - 1
8-29025058-C-T c.990G>A p.V330= Synonymous 11/40 - 1
8-29025063-T-C c.985A>G p.T329A Missense 11/40 - 1
8-29025069-C-T c.979G>A p.V327M Missense 11/40 - 3
8-29025072-T-A c.976A>T p.M326L Missense 11/40 - 1
8-29025072-T-G c.976A>C p.M326L Missense 11/40 - 1
8-29025075-C-A c.973G>T p.A325S Missense 11/40 - 1
8-29025075-C-T c.973G>A p.A325T Missense 11/40 - 2
8-29025077-G-C c.971C>G p.T324S Missense 11/40 - 2
8-29025077-G-T c.971C>A p.T324N Missense 11/40 - 1
8-29025077-G-GT c.970dup p.T324Nfs*12 Frameshift 11/40 - 1
8-29025078-T-A c.970A>T p.T324S Missense 11/40 - 3
8-29025083-CT-AG c.964_965inv p.S322L Missense 11/40 - 2
8-29025092-C-G c.956G>C p.G319A Missense 11/40 - 1
8-29025093-C-A c.955G>T p.G319W Missense 11/40 - 1
8-29025093-C-G c.955G>C p.G319R Missense 11/40 - 1
8-29025093-C-T c.955G>A p.G319R Missense 11/40 - 3
8-29025094-G-A c.954C>T p.L318= Synonymous 11/40 - 1
8-29025094-G-C c.954C>G p.L318= Synonymous 11/40 - 1
8-29025094-G-T c.954C>A p.L318= Synonymous 11/40 - 1
8-29033254-C-T c.945+331G>A - IntronicSNV - 10/39 1
8-29033422-C-T c.945+163G>A - IntronicSNV - 10/39 2
8-29033568-A-G c.945+17T>C - IntronicSNV - 10/39 1
8-29033567-GA-G c.945+17del - IntronicDeletion - 10/39 1
8-29033586-T-C c.944A>G p.K315R Missense 10/40 - 2
8-29033597-A-C c.933T>G p.T311= Synonymous 10/40 - 1
8-29033597-A-G c.933T>C p.T311= Synonymous 10/40 - 1
8-29033597-AG-CA c.932_933delinsTG p.T311M Missense 10/40 - 1
8-29033597-A-T c.933T>A p.T311= Synonymous 10/40 - 1
8-29033598-G-A c.932C>T p.T311I Missense 10/40 - 1
8-29033606-T-C c.924A>G p.S308= Synonymous 10/40 - 1
8-29033609-G-C c.921C>G p.D307E Missense 10/40 - 1
8-29033612-A-C c.918T>G p.R306= Synonymous 10/40 - 1
8-29033612-A-G c.918T>C p.R306= Synonymous 10/40 - 1
8-29033612-A-T c.918T>A p.R306= Synonymous 10/40 - 1
8-29033613-C-T c.917G>A p.R306H Missense 10/40 - 2
8-29033614-G-A c.916C>T p.R306C Missense 10/40 - 9
8-29033619-G-A c.911C>T p.P304L Missense 10/40 - 4
8-29033620-G-C c.910C>G p.P304A Missense 10/40 - 1
8-29033627-T-A c.903A>T p.K301N Missense 10/40 - 2
8-29033627-T-C c.903A>G p.K301= Synonymous 10/40 - 1
8-29033627-T-G c.903A>C p.K301N Missense 10/40 - 3
8-29033629-T-C c.901A>G p.K301E Missense 10/40 - 1
8-29033633-C-A c.897G>T p.K299N Missense 10/40 - 3
8-29033633-C-G c.897G>C p.K299N Missense 10/40 - 2
8-29033636-TG-T c.894del p.N298Kfs*33 Frameshift 10/40 - 1
8-29033640-T-G c.890A>C p.K297T Missense 10/40 - 1
8-29033636-GT-G c.893del p.N298Tfs*33 Frameshift 10/40 - 1
8-29033645-A-C c.885T>G p.A295= Synonymous 10/40 - 2
8-29033645-A-G c.885T>C p.A295= Synonymous 10/40 - 3
8-29033645-A-T c.885T>A p.A295= Synonymous 10/40 - 2
8-29033652-T-A c.878A>T p.Q293L Missense 10/40 - 1
8-29033653-G-A c.877C>T p.Q293* Nonsense 10/40 - 2
8-29033654-A-G c.876T>C p.D292= Synonymous 10/40 - 1
8-29033655-T-C c.875A>G p.D292G Missense 10/40 - 2
8-29033658-G-A c.872C>T p.A291V Missense 10/40 - 1
8-29033658-G-T c.872C>A p.A291E Missense 10/40 - 1
8-29033666-TGA-GTT c.862_864delinsAAC p.S288N Missense 10/40 - 1
8-29033667-G-A c.863C>T p.S288L Missense 10/40 - 2
8-29033669-G-C c.861C>G p.I287M Missense 10/40 - 3
8-29033674-C-G c.856G>C p.V286L Missense 10/40 - 1
8-29033675-C-A c.855G>T p.L285= Synonymous 10/40 - 1
8-29033677-G-C c.853C>G p.L285V Missense 10/40 - 1
8-29033679-C-G c.851G>C p.G284A Missense 10/40 - 1
8-29033681-G-A c.849C>T p.L283= Synonymous 10/40 - 1
8-29033681-G-C c.849C>G p.L283= Synonymous 10/40 - 1
8-29033681-G-T c.849C>A p.L283= Synonymous 10/40 - 1
8-29033683-G-A c.847C>T p.L283F Missense 10/40 - 6
8-29033916-A-C c.834-220T>G - IntronicSNV - 9/39 2
8-29034831-C-T c.833+152G>A - IntronicSNV - 9/39 1
8-29034986-T-C c.830A>G p.N277S Missense 9/40 - 1
8-29034993-T-C c.823A>G p.N275D Missense 9/40 - 1
8-29035002-C-G c.814G>C p.E272Q Missense 9/40 - 2
8-29035005-T-G c.811A>C p.K271Q Missense 9/40 - 1
8-29035009-CCT-ACA c.805_807delinsTGT p.R269C Missense 9/40 - 1
8-29035015-CCC-GCT c.799_801delinsAGC p.G267S Missense 9/40 - 1
8-29035015-C-T c.801G>A p.G267= Synonymous 9/40 - 1
8-29035020-C-A c.796G>T p.A266S Missense 9/40 - 2
8-29035020-C-T c.796G>A p.A266T Missense 9/40 - 1
8-29035023-C-A c.793G>T p.A265S Missense 9/40 - 1
8-29035023-C-T c.793G>A p.A265T Missense 9/40 - 2
8-29035024-G-A c.792C>T p.G264= Synonymous 9/40 - 1
8-29035027-T-A c.789A>T p.T263= Synonymous 9/40 - 1
8-29035027-T-C c.789A>G p.T263= Synonymous 9/40 - 2
8-29035027-T-G c.789A>C p.T263= Synonymous 9/40 - 1
8-29035028-G-C c.788C>G p.T263R Missense 9/40 - 1
8-29035030-C-T c.786G>A p.K262= Synonymous 9/40 - 1
8-29035034-G-A c.782C>T p.T261M Missense 9/40 - 2
8-29035038-C-A c.778G>T p.A260S Missense 9/40 - 1
8-29035038-C-T c.778G>A p.A260T Missense 9/40 - 1
8-29035040-C-T c.776G>A p.R259Q Missense 9/40 - 1
8-29035045-A-G c.771T>C p.S257= Synonymous 9/40 - 1
8-29035052-G-A c.764C>T p.A255V Missense 9/40 - 1
8-29035061-A-G c.755T>C p.V252A Missense 9/40 - 1
8-29035063-C-A c.753G>T p.L251= Synonymous 9/40 - 1
8-29035063-C-G c.753G>C p.L251= Synonymous 9/40 - 1
8-29035063-C-T c.753G>A p.L251= Synonymous 9/40 - 1
8-29035065-G-A c.751C>T p.L251= Synonymous 9/40 - 1
8-29035069-G-A c.747C>T p.L249= Synonymous 9/40 - 1
8-29035069-G-C c.747C>G p.L249= Synonymous 9/40 - 1
8-29035075-GC-CT c.740_741delinsAG p.G247E Missense 9/40 - 1
8-29035076-C-T c.740G>A p.G247D Missense 9/40 - 1
8-29035080-C-T c.736G>A p.V246M Missense 9/40 - 1
8-29035082-T-C c.734A>G p.K245R Missense 9/40 - 2
8-29035084-C-A c.732G>T p.E244D Missense 9/40 - 3
8-29035084-C-G c.732G>C p.E244D Missense 9/40 - 1
8-29035088-C-T c.728G>A p.G243E Missense 9/40 - 2
8-29037415-G-C c.720+206C>G - IntronicSNV - 8/39 1
8-29037461-C-T c.720+160G>A - IntronicSNV - 8/39 2
8-29037627-C-A c.714G>T p.K238N Missense 8/40 - 1
8-29037627-C-T c.714G>A p.K238= Synonymous 8/40 - 1
8-29037635-C-T c.706G>A p.D236N Missense 8/40 - 1
8-29037646-T-C c.695A>G p.H232R Missense 8/40 - 1
8-29037647-G-A c.694C>T p.H232Y Missense 8/40 - 1
8-29037656-T-C c.685A>G p.T229A Missense 8/40 - 1
8-29037676-G-T c.665C>A p.S222Y Missense 8/40 - 1
8-29037679-C-T c.662G>A p.R221Q Missense 8/40 - 2
8-29037680-G-A c.661C>T p.R221* Nonsense 8/40 - 1
8-29037682-CT-AA c.658_659delinsTT p.S220F Missense 8/40 - 1
8-29037685-C-A c.656G>T p.S219I Missense 8/40 - 3
8-29037687-C-G c.654G>C p.E218D Missense 8/40 - 1
8-29037689-C-T c.652G>A p.E218K Missense 8/40 - 2
8-29037692-C-T c.649G>A p.E217K Missense 8/40 - 1
8-29037693-G-A c.648C>T p.N216= Synonymous 8/40 - 1
8-29037694-T-C c.647A>G p.N216S Missense 8/40 - 1
8-29037696-C-A c.645G>T p.M215I Missense 8/40 - 1
8-29037696-C-G c.645G>C p.M215I Missense 8/40 - 1
8-29037696-C-T c.645G>A p.M215I Missense 8/40 - 1
8-29037701-T-A c.640A>T p.N214Y Missense 8/40 - 1
8-29037707-C-T c.634G>A p.A212T Missense 8/40 - 1
8-29037711-A-T c.630T>A p.V210= Synonymous 8/40 - 1
8-29037718-C-T c.623G>A p.R208H Missense 8/40 - 1
8-29037723-T-C c.618A>G p.K206= Synonymous 8/40 - 1
8-29037732-C-A c.609G>T p.E203D Missense 8/40 - 1
8-29037732-C-G c.609G>C p.E203D Missense 8/40 - 1
8-29037732-C-T c.609G>A p.E203= Synonymous 8/40 - 1
8-29037735-CAGACATCAACGACTCAATATCCTAAGTGGAAACAAGTCATAGACCCACGTTTCATTACT-C c.586-38_606del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 8/40 7/39 1
8-29037740-T-C c.601A>G p.M201V Missense 8/40 - 1
8-29037745-G-A c.596C>T p.S199L Missense 8/40 - 1
8-29037745-G-T c.596C>A p.S199* Nonsense 8/40 - 1
8-29037754-T-C c.587A>G p.D196G Missense 8/40 - 1
8-29039440-T-C c.581A>G p.Y194C Missense 7/40 - 1
8-29039443-CT-AA c.577_578delinsTT p.S193F Missense 7/40 - 1
8-29039445-T-A c.576A>T p.T192= Synonymous 7/40 - 1
8-29039445-T-C c.576A>G p.T192= Synonymous 7/40 - 1
8-29039445-T-G c.576A>C p.T192= Synonymous 7/40 - 1
8-29039445-TG-CA c.575_576inv p.T192M Missense 7/40 - 1
8-29039445-TGT-ATA c.574_576delinsTAT p.T192Y Missense 7/40 - 1
8-29039450-C-T c.571G>A p.V191I Missense 7/40 - 1
8-29039455-A-T c.566T>A p.L189Q Missense 7/40 - 3
8-29039461-GA-CC c.559_560delinsGG p.S187G Missense 7/40 - 1
8-29039466-TC-GT c.554_555delinsAC p.G185D Missense 7/40 - 1
8-29039468-C-A c.553G>T p.G185* Nonsense 7/40 - 1
8-29039468-C-G c.553G>C p.G185R Missense 7/40 - 2
8-29039468-C-T c.553G>A p.G185R Missense 7/40 - 3
8-29039471-C-T c.550G>A p.D184N Missense 7/40 - 1
8-29039472-GAC-CAT c.547_549delinsATG p.V183M Missense 7/40 - 1
8-29039479-G-A c.542C>T p.P181L Missense 7/40 - 1
8-29039482-C-A c.539G>T p.G180V Missense 7/40 - 1
8-29039483-C-A c.538G>T p.G180* Nonsense 7/40 - 1
8-29039488-AC-TG c.532_533delinsCA p.V178Q Missense 7/40 - 1
8-29039488-A-T c.533T>A p.V178E Missense 7/40 - 1
8-29039489-C-T c.532G>A p.V178M Missense 7/40 - 1
8-29039490-A-C c.531T>G p.S177R Missense 7/40 - 1
8-29039490-A-T c.531T>A p.S177R Missense 7/40 - 3
8-29039492-T-G c.529A>C p.S177R Missense 7/40 - 1
8-29039495-G-A c.526C>T p.H176Y Missense 7/40 - 1
8-29039498-C-T c.523G>A p.E175K Missense 7/40 - 1
8-29039499-TCT-ATG c.520_522delinsCAT p.R174H Missense 7/40 - 1
8-29039499-TCT-CCA c.520_522delinsTGG p.R174W Missense 7/40 - 1
8-29039500-C-T c.521G>A p.R174K Missense 7/40 - 1
8-29039506-TT-GC c.514_515delinsGC p.K172A Missense 7/40 - 1
8-29039507-T-A c.514A>T p.K172* Nonsense 7/40 - 1
8-29039512-G-A c.509C>T p.T170M Missense 7/40 - 2
8-29039512-G-C c.509C>G p.T170R Missense 7/40 - 1
8-29039518-C-A c.503G>T p.R168L Missense 7/40 - 1
8-29039518-C-T c.503G>A p.R168H Missense 7/40 - 2
8-29039519-G-A c.502C>T p.R168C Missense 7/40 - 3
8-29042453-A-G c.497+1356T>C - IntronicSNV - 6/39 1
8-29042453-A-T c.497+1356T>A - IntronicSNV - 6/39 1
8-29043809-C-G c.497G>C p.G166A Missense 6/40 - 1
8-29043810-C-T c.496G>A p.G166R Missense 6/40 - 1
8-29043814-G-A c.492C>T p.P164= Synonymous 6/40 - 3
8-29043816-G-A c.490C>T p.P164S Missense 6/40 - 1
8-29043830-C-T c.476G>A p.R159Q Missense 6/40 - 1
8-29043831-G-A c.475C>T p.R159* Nonsense 6/40 - 7
8-29043834-C-A c.472G>T p.V158F Missense 6/40 - 1
8-29043852-C-T c.454G>A p.E152K Missense 6/40 - 1
8-29043855-T-C c.451A>G p.M151V Missense 6/40 - 2
8-29043857-T-C c.449A>G p.Y150C Missense 6/40 - 1
8-29043860-G-A c.446C>T p.S149F Missense 6/40 - 1
8-29043864-C-T c.442G>A p.V148M Missense 6/40 - 1
8-29043865-T-C c.441A>G p.E147= Synonymous 6/40 - 1
8-29043868-TAC-CAT c.436_438delinsATG p.V146M Missense 6/40 - 2
8-29043870-C-G c.436G>C p.V146L Missense 6/40 - 1
8-29043873-T-G c.433A>C p.K145Q Missense 6/40 - 1
8-29043882-G-T c.424C>A p.Q142K Missense 6/40 - 1
8-29043886-T-C c.420A>G p.E140= Synonymous 6/40 - 1
8-29043888-C-A c.418G>T p.E140* Nonsense 6/40 - 1
8-29043894-C-G c.412G>C p.E138Q Missense 6/40 - 1
8-29043895-C-A c.411G>T p.E137D Missense 6/40 - 2
8-29043895-C-G c.411G>C p.E137D Missense 6/40 - 1
8-29043896-T-A c.410A>T p.E137V Missense 6/40 - 1
8-29043899-T-C c.407A>G p.K136R Missense 6/40 - 1
8-29043903-G-A c.403C>T p.Q135* Nonsense 6/40 - 1
8-29043905-G-C c.401C>G p.T134S Missense 6/40 - 1
8-29043906-T-A c.400A>T p.T134S Missense 6/40 - 1
8-29043907-TC-AT c.398_399delinsAT p.R133H Missense 6/40 - 1
8-29043908-C-T c.398G>A p.R133Q Missense 6/40 - 4
8-29043909-G-A c.397C>T p.R133* Nonsense 6/40 - 1
8-29043910-T-A c.396A>T p.E132D Missense 6/40 - 1
8-29043910-T-C c.396A>G p.E132= Synonymous 6/40 - 1
8-29043910-T-G c.396A>C p.E132D Missense 6/40 - 1
8-29043912-CAA-C c.392_393del p.F131* Frameshift 6/40 - 1
8-29043913-A-C c.393T>G p.F131L Missense 6/40 - 1
8-29043913-A-T c.393T>A p.F131L Missense 6/40 - 1
8-29043915-A-G c.391T>C p.F131L Missense 6/40 - 1
8-29043923-CT-GC c.382_383delinsGC p.S128A Missense 6/40 - 1
8-29043931-TCT-ACA c.373_375delinsTGT p.R125C Missense 6/40 - 1
8-29043931-TCT-CCA c.373_375delinsTGG p.R125W Missense 6/40 - 1
8-29043936-G-A c.370C>T p.P124S Missense 6/40 - 2
8-29043936-G-T c.370C>A p.P124T Missense 6/40 - 1
8-29043937-G-A c.369C>T p.I123= Synonymous 6/40 - 1
8-29043945-C-T c.361G>A p.G121R Missense 6/40 - 1
8-29043947-G-A c.359C>T p.P120L Missense 6/40 - 1
8-29043952-G-A c.354C>T p.D118= Synonymous 6/40 - 1
8-29043955-A-G c.351T>C p.A117= Synonymous 6/40 - 1
8-29043962-C-T c.344G>A p.G115D Missense 6/40 - 3
8-29043966-T-C c.340A>G p.M114V Missense 6/40 - 3
8-29043969-T-C c.337A>G p.M113V Missense 6/40 - 1
8-29043971-G-A c.335C>T p.T112I Missense 6/40 - 1
8-29043977-GA-TT c.328_329delinsAA p.S110N Missense 6/40 - 1
8-29044064-A-T c.317-75T>A - IntronicSNV - 5/39 1
8-29044064-A-AATAAATT c.317-76_317-75insAATTTAT - IntronicInsertion - 5/39 3
8-29044455-T-C c.317-466A>G - IntronicSNV - 5/39 1
8-29046039-TCC-ACA c.307_309delinsTGT p.G103C Missense 5/40 - 1
8-29046043-T-C c.305A>G p.Y102C Missense 5/40 - 2
8-29046045-G-A c.303C>T p.A101= Synonymous 5/40 - 1
8-29046051-G-C c.297C>G p.I99M Missense 5/40 - 1
8-29046058-G-A c.290C>T p.A97V Missense 5/40 - 1
8-29046059-C-T c.289G>A p.A97T Missense 5/40 - 1
8-29046074-A-G c.274T>C p.F92L Missense 5/40 - 1
8-29046076-G-A c.272C>T p.A91V Missense 5/40 - 1
8-29046077-C-G c.271G>C p.A91P Missense 5/40 - 1
8-29046087-G-C c.261C>G p.I87M Missense 5/40 - 1
8-29046091-T-A c.257A>T p.N86I Missense 5/40 - 1
8-29046101-G-A c.247C>T p.L83F Missense 5/40 - 1
8-29046108-G-A c.240C>T p.F80= Synonymous 5/40 - 2
8-29046108-TGAA-T c.238_240del p.F80del InFrameDeletion 5/40 - 1
8-29046113-C-A c.235G>T p.V79F Missense 5/40 - 1
8-29046118-T-G c.230A>C p.D77A Missense 5/40 - 1
8-29046119-C-A c.229G>T p.D77Y Missense 5/40 - 3
8-29046124-C-T c.224G>A p.G75D Missense 5/40 - 2
8-29048320-C-T c.223+194G>A - IntronicSNV - 4/39 1
8-29048391-T-C c.223+123A>G - IntronicSNV - 4/39 1
8-29048477-C-T c.223+37G>A - IntronicSNV - 4/39 2
8-29048493-C-A c.223+21G>T - IntronicSNV - 4/39 1
8-29048514-C-A c.223G>T p.G75C Missense 4/40 - 1
8-29048519-T-C c.218A>G p.Y73C Missense 4/40 - 1
8-29048527-T-C c.210A>G p.K70= Synonymous 4/40 - 1
8-29048529-T-G c.208A>C p.K70Q Missense 4/40 - 2
8-29048534-GA-AG c.202_203delinsCT p.S68L Missense 4/40 - 1
8-29048538-C-T c.199G>A p.E67K Missense 4/40 - 1
8-29048541-C-A c.196G>T p.D66Y Missense 4/40 - 1
8-29048550-A-G c.187T>C p.W63R Missense 4/40 - 3
8-29048550-A-T c.187T>A p.W63R Missense 4/40 - 2
8-29048553-A-G c.184T>C p.F62L Missense 4/40 - 1
8-29048559-TGATCATAAGCAA-T c.167_178del p.F56_H60delinsY MultiAAMissense 4/40 - 1
8-29048564-T-C c.173A>G p.Y58C Missense 4/40 - 1
8-29048566-A-C c.171T>G p.A57= Synonymous 4/40 - 1
8-29048566-A-G c.171T>C p.A57= Synonymous 4/40 - 1
8-29048566-A-T c.171T>A p.A57= Synonymous 4/40 - 1
8-29048567-G-A c.170C>T p.A57V Missense 4/40 - 3
8-29048568-CA-C c.168del p.F56Lfs*58 Frameshift 4/40 - 1
8-29053704-C-A c.162G>T p.K54N Missense 3/40 - 1
8-29053704-C-G c.162G>C p.K54N Missense 3/40 - 1
8-29053707-C-T c.159G>A p.P53= Synonymous 3/40 - 1
8-29053708-G-A c.158C>T p.P53L Missense 3/40 - 2
8-29053708-G-T c.158C>A p.P53Q Missense 3/40 - 2
8-29053778-T-G c.150-62A>C - IntronicSNV - 2/39 1
8-29057908-G-A c.150-4192C>T - IntronicSNV - 2/39 1
8-29062302-C-T c.150-8586G>A - IntronicSNV - 2/39 1
8-29063172-T-G c.150-9456A>C - IntronicSNV - 2/39 2
8-29079558-G-A c.149+23305C>T - IntronicSNV - 2/39 1
8-29079558-G-C c.149+23305C>G - IntronicSNV - 2/39 1
8-29082285-G-A c.149+20578C>T - IntronicSNV - 2/39 1
8-29082285-G-C c.149+20578C>G - IntronicSNV - 2/39 1
8-29087520-G-A c.149+15343C>T - IntronicSNV - 2/39 1
8-29092631-T-C c.149+10232A>G - IntronicSNV - 2/39 1
8-29102601-T-G c.149+262A>C - IntronicSNV - 2/39 1
8-29102602-T-C c.149+261A>G - IntronicSNV - 2/39 1
8-29102772-C-T c.149+91G>A - IntronicSNV - 2/39 1
8-29102858-C-G c.149+5G>C - IntronicSNV - 2/39 1
8-29102863-C-T c.149G>A p.R50Q Missense 2/40 - 1
8-29102864-G-C c.148C>G p.R50G Missense 2/40 - 1
8-29102863-CG-C c.148del p.R50Gfs*64 Frameshift 2/40 - 1
8-29102877-G-A c.135C>T p.S45= Synonymous 2/40 - 1
8-29102878-G-T c.134C>A p.S45Y Missense 2/40 - 1
8-29102890-T-A c.122A>T p.N41I Missense 2/40 - 2
8-29102906-T-C c.106A>G p.I36V Missense 2/40 - 1
8-29102906-T-G c.106A>C p.I36L Missense 2/40 - 1
8-29102908-A-G c.104T>C p.V35A Missense 2/40 - 1
8-29102916-T-A c.96A>T p.A32= Synonymous 2/40 - 1
8-29102916-T-C c.96A>G p.A32= Synonymous 2/40 - 1
8-29102916-T-G c.96A>C p.A32= Synonymous 2/40 - 1
8-29102917-G-T c.95C>A p.A32E Missense 2/40 - 1
8-29102924-C-A c.88G>T p.V30L Missense 2/40 - 1
8-29102924-C-G c.88G>C p.V30L Missense 2/40 - 1
8-29102935-C-T c.77G>A p.C26Y Missense 2/40 - 1
8-29102937-T-C c.75A>G p.K25= Synonymous 2/40 - 1
8-29102941-G-A c.71C>T p.T24I Missense 2/40 - 1
8-29102944-T-A c.68A>T p.H23L Missense 2/40 - 1
8-29102948-A-T c.64T>A p.L22M Missense 2/40 - 3
8-29102949-G-A c.63C>T p.D21= Synonymous 2/40 - 1
8-29102951-C-T c.61G>A p.D21N Missense 2/40 - 1
8-29102953-G-A c.59C>T p.T20I Missense 2/40 - 1
8-29102955-C-T c.57G>A p.E19= Synonymous 2/40 - 1
8-29103015-G-A c.56-59C>T - IntronicSNV - 1/39 1
8-29103218-A-G c.56-262T>C - IntronicSNV - 1/39 1
8-29105528-C-T c.56-2572G>A - IntronicSNV - 1/39 1
8-29106950-A-T c.56-3994T>A - IntronicSNV - 1/39 1
8-29107388-G-A c.56-4432C>T - IntronicSNV - 1/39 2
8-29107769-G-A c.56-4813C>T - IntronicSNV - 1/39 1
8-29119777-C-T c.55+720G>A - IntronicSNV - 1/39 1
8-29120453-C-T c.55+44G>A - IntronicSNV - 1/39 1
8-29120461-C-A c.55+36G>T - IntronicSNV - 1/39 1
8-29120503-G-C c.49C>G p.R17G Missense 1/40 - 1
8-29120504-G-A c.48C>T p.N16= Synonymous 1/40 - 1
8-29120505-T-C c.47A>G p.N16S Missense 1/40 - 1
8-29120507-CAT-GTC c.43_45delinsGAC p.M15D Missense 1/40 - 1
8-29120511-G-A c.41C>T p.P14L Missense 1/40 - 1
8-29120512-G-A c.40C>T p.P14S Missense 1/40 - 3
8-29120513-TCG-GCT c.37_39delinsAGC p.R13S Missense 1/40 - 1
8-29120519-CCG-GAT c.31_33delinsATC p.R11I Missense 1/40 - 1
8-29120522-CAC-GAT c.28_30delinsATC p.V10I Missense 1/40 - 2
8-29120523-A-G c.29T>C p.V10A Missense 1/40 - 1
8-29120525-C-A c.27G>T p.A9= Synonymous 1/40 - 2
8-29120532-T-C c.20A>G p.K7R Missense 1/40 - 1
8-29120549-C-A c.3G>T p.M1? Missense 1/40 - 1
8-29120549-C-G c.3G>C p.M1? Missense 1/40 - 1
8-29120549-C-T c.3G>A p.M1? Missense 1/40 - 1
8-29120563-C-G c.-12G>C - 5-UTRSNV 1/40 - 1
8-29120587-T-C c.-36A>G - 5-UTRSNV 1/40 - 1