MTHFR

MTHFR methylenetetrahydrofolate reductase

Annotation transcript: NM_005957.5

1319 unique variant annotations were identified in 1510 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
1-11849667-C-T c.*1070G>A - 3-UTRSNV 12/12 - 1
1-11850083-T-C c.*654A>G - 3-UTRSNV 12/12 - 1
1-11850153-G-A c.*584C>T - 3-UTRSNV 12/12 - 1
1-11850194-C-T c.*543G>A - 3-UTRSNV 12/12 - 2
1-11850365-T-A c.*372A>T - 3-UTRSNV 12/12 - 50
1-11850365-T-G c.*372A>C - 3-UTRSNV 12/12 - 50
1-11850434-C-T c.*303G>A - 3-UTRSNV 12/12 - 3
1-11850646-C-T c.*91G>A - 3-UTRSNV 12/12 - 1
1-11850696-G-A c.*41C>T - 3-UTRSNV 12/12 - 2
1-11850738-C-G c.1970G>C p.*657Sext*50 Missense 12/12 - 5
1-11850739-A-G c.1969T>C p.*657Rext*50 Missense 12/12 - 3
1-11850742-G-A c.1966C>T p.P656S Missense 12/12 - 1
1-11850744-G-A c.1964C>T p.A655V Missense 12/12 - 1
1-11850745-C-T c.1963G>A p.A655T Missense 12/12 - 1
1-11850749-C-A c.1959G>T p.T653= Synonymous 12/12 - 2
1-11850749-C-G c.1959G>C p.T653= Synonymous 12/12 - 2
1-11850749-C-T c.1959G>A p.T653= Synonymous 12/12 - 3
1-11850750-G-A c.1958C>T p.T653M Missense 12/12 - 23
1-11850755-TCT-ATG c.1951_1953delinsCAT p.R651H Missense 12/12 - 1
1-11850756-C-T c.1952G>A p.R651K Missense 12/12 - 1
1-11850757-T-C c.1951A>G p.R651G Missense 12/12 - 1
1-11850759-G-A c.1949C>T p.A650V Missense 12/12 - 1
1-11850763-T-C c.1945A>G p.N649D Missense 12/12 - 2
1-11850765-T-A c.1943A>T p.Q648L Missense 12/12 - 1
1-11850765-T-C c.1943A>G p.Q648R Missense 12/12 - 2
1-11850767-G-A c.1941C>T p.T647= Synonymous 12/12 - 1
1-11850767-G-C c.1941C>G p.T647= Synonymous 12/12 - 1
1-11850767-G-T c.1941C>A p.T647= Synonymous 12/12 - 1
1-11850769-T-G c.1939A>C p.T647P Missense 12/12 - 1
1-11850770-G-A c.1938C>T p.P646= Synonymous 12/12 - 1
1-11850770-G-C c.1938C>G p.P646= Synonymous 12/12 - 1
1-11850770-G-T c.1938C>A p.P646= Synonymous 12/12 - 1
1-11850771-G-C c.1937C>G p.P646R Missense 12/12 - 1
1-11850772-G-C c.1936C>G p.P646A Missense 12/12 - 1
1-11850773-C-A c.1935G>T p.R645S Missense 12/12 - 1
1-11850773-C-T c.1935G>A p.R645= Synonymous 12/12 - 1
1-11850776-G-T c.1932C>A p.N644K Missense 12/12 - 2
1-11850778-T-G c.1930A>C p.N644H Missense 12/12 - 1
1-11850780-GA-G c.1928del p.L643Pfs*19 Frameshift 12/12 - 2
1-11850786-T-G c.1922A>C p.E641A Missense 12/12 - 1
1-11850787-C-A c.1921G>T p.E641* Nonsense 12/12 - 1
1-11850787-C-T c.1921G>A p.E641K Missense 12/12 - 1
1-11850789-AA-GG c.1918_1919delinsCC p.L640P Missense 12/12 - 1
1-11850789-A-G c.1919T>C p.L640S Missense 12/12 - 1
1-11850792-G-A c.1916C>T p.T639I Missense 12/12 - 2
1-11850795-T-A c.1913A>T p.D638V Missense 12/12 - 1
1-11850799-C-A c.1909G>T p.E637* Nonsense 12/12 - 1
1-11850799-C-T c.1909G>A p.E637K Missense 12/12 - 2
1-11850803-C-T c.1905G>A p.V635= Synonymous 12/12 - 2
1-11850805-C-T c.1903G>A p.V635M Missense 12/12 - 2
1-11850815-G-T c.1893C>A p.C631* Nonsense 12/12 - 1
1-11850816-CA-GT c.1891_1892delinsAC p.C631T Missense 12/12 - 4
1-11850825-A-G c.1883T>C p.L628P Missense 12/12 - 4
1-11850825-AG-GT c.1882_1883delinsAC p.L628T Missense 12/12 - 1
1-11850838-T-C c.1870A>G p.N624D Missense 12/12 - 1
1-11850840-T-C c.1868A>G p.D623G Missense 12/12 - 1
1-11850851-G-A c.1857C>T p.V619= Synonymous 12/12 - 1
1-11850851-G-C c.1857C>G p.V619= Synonymous 12/12 - 1
1-11850851-G-T c.1857C>A p.V619= Synonymous 12/12 - 1
1-11850853-C-T c.1855G>A p.V619I Missense 12/12 - 1
1-11850862-A-C c.1846T>G p.Y616D Missense 12/12 - 1
1-11850866-G-A c.1842C>T p.D614= Synonymous 12/12 - 1
1-11850867-T-C c.1841A>G p.D614G Missense 12/12 - 4
1-11850867-T-G c.1841A>C p.D614A Missense 12/12 - 1
1-11850869-G-A c.1839C>T p.H613= Synonymous 12/12 - 1
1-11850869-G-C c.1839C>G p.H613Q Missense 12/12 - 1
1-11850871-G-A c.1837C>T p.H613Y Missense 12/12 - 1
1-11850876-T-A c.1832A>T p.Y611F Missense 12/12 - 1
1-11850876-T-C c.1832A>G p.Y611C Missense 12/12 - 1
1-11850883-T-G c.1825A>C p.I609L Missense 12/12 - 1
1-11850885-A-ATGTAC c.1822_1823insGTACA p.I608Sfs*56 Frameshift 12/12 - 1
1-11850891-C-T c.1817G>A p.R606H Missense 12/12 - 3
1-11850892-G-A c.1816C>T p.R606C Missense 12/12 - 1
1-11850893-G-T c.1815C>A p.S605= Synonymous 12/12 - 1
1-11850894-G-A c.1814C>T p.S605F Missense 12/12 - 1
1-11850900-G-A c.1808C>T p.S603F Missense 12/12 - 2
1-11850900-G-C c.1808C>G p.S603C Missense 12/12 - 2
1-11850900-GGACTCCTCCTCA-G c.1797_1808del p.E600_S603del InFrameDeletion 12/12 - 1
1-11850904-C-A c.1804G>T p.E602* Nonsense 12/12 - 2
1-11850904-C-T c.1804G>A p.E602K Missense 12/12 - 1
1-11850905-C-T c.1803G>A p.E601= Synonymous 12/12 - 1
1-11850906-TC-GA c.1801_1802inv p.E601S Missense 12/12 - 1
1-11850909-T-G c.1799A>C p.E600A Missense 12/12 - 2
1-11850910-C-A c.1798G>T p.E600* Nonsense 12/12 - 3
1-11850910-C-G c.1798G>C p.E600Q Missense 12/12 - 1
1-11850910-C-T c.1798G>A p.E600K Missense 12/12 - 4
1-11850914-C-A c.1794G>T p.L598= Synonymous 12/12 - 1
1-11850914-C-G c.1794G>C p.L598= Synonymous 12/12 - 1
1-11850914-C-T c.1794G>A p.L598= Synonymous 12/12 - 1
1-11850916-G-A c.1792C>T p.L598= Synonymous 12/12 - 1
1-11850915-A-G c.1793T>C p.L598P Missense 12/12 - 6
1-11850916-G-C c.1792C>G p.L598V Missense 12/12 - 1
1-11850920-T-A c.1788A>T p.G596= Synonymous 12/12 - 1
1-11850920-T-C c.1788A>G p.G596= Synonymous 12/12 - 1
1-11850920-T-G c.1788A>C p.G596= Synonymous 12/12 - 1
1-11850927-C-T c.1781G>A p.R594Q Missense 12/12 - 126
1-11850928-CG-C c.1780del p.R594Gfs*68 Frameshift 12/12 - 1
1-11850928-G-A c.1780C>T p.R594W Missense 12/12 - 2
1-11850928-GCT-G c.1778_1779del p.E593Afs*7 Frameshift 12/12 - 1
1-11850933-A-G c.1775T>C p.I592T Missense 12/12 - 1
1-11850936-C-T c.1772G>A p.W591* Nonsense 12/12 - 1
1-11850939-A-C c.1769T>G p.L590R Missense 12/12 - 1
1-11850939-AG-A c.1768del p.L590Cfs*72 Frameshift 12/12 - 2
1-11850946-A-C c.1762T>G p.F588V Missense 12/12 - 1
1-11850947-G-A c.1761C>T p.A587= Synonymous 12/12 - 2
1-11850947-G-C c.1761C>G p.A587= Synonymous 12/12 - 2
1-11850947-G-T c.1761C>A p.A587= Synonymous 12/12 - 1
1-11850950-C-A c.1758G>T p.E586D Missense 12/12 - 1
1-11850950-C-T c.1758G>A p.E586= Synonymous 12/12 - 1
1-11850951-CT-C c.1757del p.E586Gfs*76 Frameshift 12/12 - 1
1-11850952-C-T c.1756G>A p.E586K Missense 12/12 - 5
1-11850953-G-A c.1755C>T p.D585= Synonymous 12/12 - 1
1-11850973-C-T c.1753-18G>A - IntronicSNV - 11/11 1
1-11850981-C-T c.1753-26G>A - IntronicSNV - 11/11 2
1-11851003-G-C c.1753-48C>G - IntronicSNV - 11/11 13
1-11851118-A-G c.1752+146T>C - IntronicSNV - 11/11 8
1-11851185-C-T c.1752+79G>A - IntronicSNV - 11/11 5
1-11851219-C-T c.1752+45G>A - IntronicSNV - 11/11 1
1-11851235-C-T c.1752+29G>A - IntronicSNV - 11/11 1
1-11851263-C-A c.1752+1G>T - IntronicSNV - 11/11 2
1-11851266-T-A c.1750A>T p.K584* Nonsense 11/12 - 2
1-11851268-C-T c.1748G>A p.W583* Nonsense 11/12 - 1
1-11851273-C-T c.1743G>A p.M581I Missense 11/12 - 4
1-11851274-A-G c.1742T>C p.M581T Missense 11/12 - 1
1-11851276-G-C c.1740C>G p.F580L Missense 11/12 - 2
1-11851276-G-T c.1740C>A p.F580L Missense 11/12 - 1
1-11851278-A-G c.1738T>C p.F580L Missense 11/12 - 2
1-11851280-C-T c.1736G>A p.S579N Missense 11/12 - 3
1-11851280-GCTGACGGGATCCACTACGGTGGGCTGGATGATCTCTCGCCCAGGGAAGATGCCCCAAGT-G c.1678_1736del p.T560Lfs*14 InFrameDeletion 11/12 - 1
1-11851284-C-T c.1732G>A p.V578I Missense 11/12 - 1
1-11851286-G-A c.1730C>T p.P577L Missense 11/12 - 6
1-11851292-A-C c.1724T>G p.V575G Missense 11/12 - 5
1-11851292-A-G c.1724T>C p.V575A Missense 11/12 - 1
1-11851295-A-C c.1721T>G p.V574G Missense 11/12 - 2
1-11851296-C-G c.1720G>C p.V574L Missense 11/12 - 1
1-11851297-G-A c.1719C>T p.T573= Synonymous 11/12 - 1
1-11851298-GT-CA c.1717_1718delinsTG p.T573C Missense 11/12 - 1
1-11851299-T-C c.1717A>G p.T573A Missense 11/12 - 1
1-11851300-G-A c.1716C>T p.P572= Synonymous 11/12 - 1
1-11851300-G-C c.1716C>G p.P572= Synonymous 11/12 - 1
1-11851300-G-T c.1716C>A p.P572= Synonymous 11/12 - 1
1-11851301-G-A c.1715C>T p.P572L Missense 11/12 - 7
1-11851306-G-C c.1710C>G p.I570M Missense 11/12 - 2
1-11851316-C-T c.1700G>A p.R567Q Missense 11/12 - 2
1-11851317-G-A c.1699C>T p.R567* Nonsense 11/12 - 6
1-11851319-C-T c.1697G>A p.G566E Missense 11/12 - 4
1-11851322-G-A c.1694C>T p.P565L Missense 11/12 - 3
1-11851333-C-T c.1683G>A p.W561* Nonsense 11/12 - 5
1-11851334-C-T c.1682G>A p.W561* Nonsense 11/12 - 1
1-11851343-G-A c.1673C>T p.A558V Missense 11/12 - 1
1-11851348-C-A c.1668G>T p.P556= Synonymous 11/12 - 2
1-11851348-C-G c.1668G>C p.P556= Synonymous 11/12 - 2
1-11851348-C-T c.1668G>A p.P556= Synonymous 11/12 - 3
1-11851349-G-A c.1667C>T p.P556L Missense 11/12 - 1
1-11851350-G-C c.1666C>G p.P556A Missense 11/12 - 1
1-11851354-CAG-AAA c.1660_1662delinsTTT p.L554F Missense 11/12 - 8
1-11851354-CAG-GAT c.1660_1662delinsATC p.L554I Missense 11/12 - 1
1-11851365-C-A c.1651G>T p.A551S Missense 11/12 - 1
1-11851365-C-T c.1651G>A p.A551T Missense 11/12 - 1
1-11851370-GT-TC c.1645_1646delinsGA p.T549D Missense 11/12 - 1
1-11851371-T-A c.1645A>T p.T549S Missense 11/12 - 1
1-11851371-T-C c.1645A>G p.T549A Missense 11/12 - 1
1-11851375-G-A c.1641C>T p.N547= Synonymous 11/12 - 1
1-11851375-G-C c.1641C>G p.N547K Missense 11/12 - 1
1-11851375-G-T c.1641C>A p.N547K Missense 11/12 - 1
1-11851927-C-T c.1632+408G>A - IntronicSNV - 10/11 1
1-11851950-C-A c.1632+385G>T - IntronicSNV - 10/11 2
1-11851950-C-G c.1632+385G>C - IntronicSNV - 10/11 2
1-11852110-C-T c.1632+225G>A - IntronicSNV - 10/11 7
1-11852241-C-G c.1632+94G>C - IntronicSNV - 10/11 1
1-11852300-C-G c.1632+35G>C - IntronicSNV - 10/11 47
1-11852300-C-T c.1632+35G>A - IntronicSNV - 10/11 48
1-11852303-G-A c.1632+32C>T - IntronicSNV - 10/11 1
1-11852333-A-C c.1632+2T>G - IntronicSNV - 10/11 2
1-11852333-A-G c.1632+2T>C - IntronicSNV - 10/11 1
1-11852335-C-G c.1632G>C p.K544N Missense 10/12 - 1
1-11852336-T-C c.1631A>G p.K544R Missense 10/12 - 1
1-11852340-C-T c.1627G>A p.V543M Missense 10/12 - 1
1-11852342-T-C c.1625A>G p.N542S Missense 10/12 - 1
1-11852342-T-G c.1625A>C p.N542T Missense 10/12 - 2
1-11852353-G-A c.1614C>T p.Y538= Synonymous 10/12 - 1
1-11852361-C-A c.1606G>T p.V536F Missense 10/12 - 4
1-11852363-C-G c.1604G>C p.R535P Missense 10/12 - 1
1-11852363-C-T c.1604G>A p.R535Q Missense 10/12 - 4
1-11852364-G-A c.1603C>T p.R535W Missense 10/12 - 6
1-11852367-G-A c.1600C>T p.L534F Missense 10/12 - 1
1-11852368-C-T c.1599G>A p.E533= Synonymous 10/12 - 1
1-11852370-C-G c.1597G>C p.E533Q Missense 10/12 - 1
1-11852371-G-C c.1596C>G p.Y532* Nonsense 10/12 - 2
1-11852371-G-T c.1596C>A p.Y532* Nonsense 10/12 - 1
1-11852374-AC-A c.1593del p.K531Nfs*13 Frameshift 10/12 - 2
1-11852373-ACTT-A c.1591_1593del p.K531del InFrameDeletion 10/12 - 1
1-11852378-T-C c.1589A>G p.K530R Missense 10/12 - 2
1-11852383-C-A c.1584G>T p.V528= Synonymous 10/12 - 1
1-11852383-C-T c.1584G>A p.V528= Synonymous 10/12 - 1
1-11852386-T-C c.1581A>G p.Q527= Synonymous 10/12 - 3
1-11852389-C-A c.1578G>T p.L526= Synonymous 10/12 - 1
1-11852389-C-G c.1578G>C p.L526= Synonymous 10/12 - 1
1-11852389-C-T c.1578G>A p.L526= Synonymous 10/12 - 1
1-11852391-G-A c.1576C>T p.L526= Synonymous 10/12 - 1
1-11852396-G-T c.1571C>A p.A524E Missense 10/12 - 1
1-11852398-T-A c.1569A>T p.E523D Missense 10/12 - 1
1-11852401-C-T c.1566G>A p.A522= Synonymous 10/12 - 5
1-11852402-G-A c.1565C>T p.A522V Missense 10/12 - 1
1-11852404-TGT-ACA c.1561_1563inv p.T521C Missense 10/12 - 9
1-11852405-G-A c.1562C>T p.T521I Missense 10/12 - 1
1-11852406-T-C c.1561A>G p.T521A Missense 10/12 - 1
1-11852409-C-G c.1558G>C p.E520Q Missense 10/12 - 5
1-11852409-C-T c.1558G>A p.E520K Missense 10/12 - 1
1-11852410-GC-TT c.1556_1557delinsAA p.R519Q Missense 10/12 - 1
1-11852411-C-A c.1556G>T p.R519L Missense 10/12 - 5
1-11852411-C-T c.1556G>A p.R519H Missense 10/12 - 5
1-11852412-G-A c.1555C>T p.R519C Missense 10/12 - 19
1-11852413-G-A c.1554C>T p.S518= Synonymous 10/12 - 2
1-11852417-G-A c.1550C>T p.T517I Missense 10/12 - 1
1-11852422-A-G c.1545T>C p.F515= Synonymous 10/12 - 1
1-11852425-C-T c.1542G>A p.E514= Synonymous 10/12 - 1
1-11852424-ACT-A c.1541_1542del p.E514Vfs*23 Frameshift 10/12 - 2
1-11852427-C-G c.1540G>C p.E514Q Missense 10/12 - 1
1-11852427-C-CT c.1539dup p.E514Rfs*24 Frameshift 10/12 - 3
1-11852429-A-G c.1538T>C p.L513S Missense 10/12 - 1
1-11852430-A-T c.1537T>A p.L513I Missense 10/12 - 1
1-11852432-T-C c.1535A>G p.Y512C Missense 10/12 - 4
1-11852432-T-TCC c.1534_1535insGG p.Y512Wfs*3 Frameshift 10/12 - 1
1-11852435-G-T c.1532C>A p.A511D Missense 10/12 - 1
1-11852516-C-T c.1531-80G>A - IntronicSNV - 9/11 10
1-11852898-G-C c.1531-462C>G - IntronicSNV - 9/11 1
1-11852969-T-C c.1531-533A>G - IntronicSNV - 9/11 2
1-11853599-G-A c.1530+365C>T - IntronicSNV - 9/11 2
1-11853599-G-C c.1530+365C>G - IntronicSNV - 9/11 2
1-11853599-G-T c.1530+365C>A - IntronicSNV - 9/11 2
1-11853680-G-A c.1530+284C>T - IntronicSNV - 9/11 1
1-11853680-G-C c.1530+284C>G - IntronicSNV - 9/11 1
1-11853925-G-A c.1530+39C>T - IntronicSNV - 9/11 1
1-11853962-A-G c.1530+2T>C - IntronicSNV - 9/11 4
1-11853964-C-T c.1530G>A p.K510= Synonymous 9/12 - 7
1-11853965-T-G c.1529A>C p.K510T Missense 9/12 - 1
1-11853966-TTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTC-T c.1470_1528del p.K491Gfs*27 InFrameDeletion 9/12 - 1
1-11853969-G-A c.1525C>T p.Q509* Nonsense 9/12 - 1
1-11853969-G-T c.1525C>A p.Q509K Missense 9/12 - 1
1-11853970-G-A c.1524C>T p.F508= Synonymous 9/12 - 2
1-11853969-GGAA-G c.1522_1524del p.F508del InFrameDeletion 9/12 - 3
1-11853977-T-C c.1517A>G p.Y506C Missense 9/12 - 1
1-11853978-A-C c.1516T>G p.Y506D Missense 9/12 - 5
1-11853984-C-T c.1510G>A p.G504R Missense 9/12 - 1
1-11853986-CT-GG c.1507_1508delinsCC p.S503P Missense 9/12 - 1
1-11853993-C-A c.1501G>T p.G501C Missense 9/12 - 2
1-11853994-C-G c.1500G>C p.W500C Missense 9/12 - 1
1-11853996-A-C c.1498T>G p.W500G Missense 9/12 - 1
1-11853997-GC-G c.1496del p.G499Afs*15 Frameshift 9/12 - 1
1-11854000-C-G c.1494G>C p.V498= Synonymous 9/12 - 1
1-11854002-C-T c.1492G>A p.V498M Missense 9/12 - 1
1-11854003-G-A c.1491C>T p.I497= Synonymous 9/12 - 2
1-11854009-G-C c.1485C>G p.D495E Missense 9/12 - 1
1-11854009-G-T c.1485C>A p.D495E Missense 9/12 - 2
1-11854011-C-T c.1483G>A p.D495N Missense 9/12 - 2
1-11854012-G-A c.1482C>T p.S494= Synonymous 9/12 - 3
1-11854012-G-C c.1482C>G p.S494= Synonymous 9/12 - 1
1-11854012-G-T c.1482C>A p.S494= Synonymous 9/12 - 1
1-11854013-G-T c.1481C>A p.S494Y Missense 9/12 - 1
1-11854017-A-G c.1477T>C p.S493P Missense 9/12 - 1
1-11854018-C-A c.1476G>T p.P492= Synonymous 9/12 - 1
1-11854018-C-G c.1476G>C p.P492= Synonymous 9/12 - 1
1-11854018-C-T c.1476G>A p.P492= Synonymous 9/12 - 4
1-11854019-G-A c.1475C>T p.P492L Missense 9/12 - 3
1-11854020-G-A c.1474C>T p.P492S Missense 9/12 - 1
1-11854023-T-G c.1471A>C p.K491Q Missense 9/12 - 1
1-11854024-C-T c.1470G>A p.G490= Synonymous 9/12 - 1
1-11854026-C-T c.1468G>A p.G490R Missense 9/12 - 3
1-11854027-G-A c.1467C>T p.N489= Synonymous 9/12 - 1
1-11854027-G-C c.1467C>G p.N489K Missense 9/12 - 1
1-11854027-G-T c.1467C>A p.N489K Missense 9/12 - 1
1-11854029-T-C c.1465A>G p.N489D Missense 9/12 - 1
1-11854032-T-C c.1462A>G p.I488V Missense 9/12 - 4
1-11854037-G-A c.1457C>T p.P486L Missense 9/12 - 1
1-11854037-G-T c.1457C>A p.P486H Missense 9/12 - 1
1-11854039-C-A c.1455G>T p.Q485H Missense 9/12 - 1
1-11854039-C-T c.1455G>A p.Q485= Synonymous 9/12 - 1
1-11854040-T-C c.1454A>G p.Q485R Missense 9/12 - 2
1-11854042-T-A c.1452A>T p.S484= Synonymous 9/12 - 1
1-11854042-T-C c.1452A>G p.S484= Synonymous 9/12 - 1
1-11854042-T-G c.1452A>C p.S484= Synonymous 9/12 - 1
1-11854043-G-C c.1451C>G p.S484* Nonsense 9/12 - 1
1-11854048-G-A c.1446C>T p.I482= Synonymous 9/12 - 1
1-11854048-G-T c.1446C>A p.I482= Synonymous 9/12 - 2
1-11854049-A-T c.1445T>A p.I482N Missense 9/12 - 1
1-11854050-T-C c.1444A>G p.I482V Missense 9/12 - 1
1-11854051-G-A c.1443C>T p.T481= Synonymous 9/12 - 2
1-11854051-G-C c.1443C>G p.T481= Synonymous 9/12 - 1
1-11854051-G-T c.1443C>A p.T481= Synonymous 9/12 - 1
1-11854052-G-T c.1442C>A p.T481N Missense 9/12 - 1
1-11854058-A-G c.1436T>C p.I479T Missense 9/12 - 1
1-11854063-C-T c.1431G>A p.Q477= Synonymous 9/12 - 1
1-11854064-T-A c.1430A>T p.Q477L Missense 9/12 - 1
1-11854066-G-A c.1428C>T p.R476= Synonymous 9/12 - 2
1-11854067-CG-AT c.1426_1427delinsAT p.R476I Missense 9/12 - 1
1-11854067-C-T c.1427G>A p.R476H Missense 9/12 - 1
1-11854068-G-A c.1426C>T p.R476C Missense 9/12 - 2
1-11854072-CAC-GAT c.1420_1422delinsATC p.V474I Missense 9/12 - 1
1-11854074-C-A c.1420G>T p.V474L Missense 9/12 - 1
1-11854074-C-T c.1420G>A p.V474M Missense 9/12 - 1
1-11854076-C-A c.1418G>T p.R473L Missense 9/12 - 1
1-11854076-CG-GT c.1417_1418delinsAC p.R473T Missense 9/12 - 1
1-11854076-C-T c.1418G>A p.R473Q Missense 9/12 - 3
1-11854075-C-A c.1419G>T p.R473= Synonymous 9/12 - 1
1-11854075-C-G c.1419G>C p.R473= Synonymous 9/12 - 1
1-11854075-C-T c.1419G>A p.R473= Synonymous 9/12 - 1
1-11854077-G-A c.1417C>T p.R473W Missense 9/12 - 4
1-11854077-G-C c.1417C>G p.R473G Missense 9/12 - 1
1-11854077-G-T c.1417C>A p.R473= Synonymous 9/12 - 2
1-11854079-A-T c.1415T>A p.L472Q Missense 9/12 - 1
1-11854080-G-C c.1414C>G p.L472V Missense 9/12 - 1
1-11854084-C-A c.1410G>T p.E470D Missense 9/12 - 1
1-11854084-C-T c.1410G>A p.E470= Synonymous 9/12 - 2
1-11854085-T-A c.1409A>T p.E470V Missense 9/12 - 6
1-11854085-T-C c.1409A>G p.E470G Missense 9/12 - 2
1-11854085-TC-AG c.1408_1409delinsCT p.E470L Missense 9/12 - 2
1-11854085-T-G c.1409A>C p.E470A Missense 9/12 - 16
1-11854086-C-A c.1408G>T p.E470* Nonsense 9/12 - 6
1-11854086-C-G c.1408G>C p.E470Q Missense 9/12 - 4
1-11854086-C-T c.1408G>A p.E470K Missense 9/12 - 1
1-11854087-C-G c.1407G>C p.E469D Missense 9/12 - 1
1-11854088-T-C c.1406A>G p.E469G Missense 9/12 - 1
1-11854088-T-G c.1406A>C p.E469A Missense 9/12 - 1
1-11854089-C-T c.1405G>A p.E469K Missense 9/12 - 9
1-11854099-G-T c.1395C>A p.S465R Missense 9/12 - 1
1-11854100-C-A c.1394G>T p.S465I Missense 9/12 - 1
1-11854102-G-A c.1392C>T p.T464= Synonymous 9/12 - 1
1-11854102-G-C c.1392C>G p.T464= Synonymous 9/12 - 1
1-11854102-G-T c.1392C>A p.T464= Synonymous 9/12 - 1
1-11854105-C-A c.1389G>T p.E463D Missense 9/12 - 2
1-11854105-C-G c.1389G>C p.E463D Missense 9/12 - 2
1-11854105-CTC-GTT c.1387_1389delinsAAC p.E463N Missense 9/12 - 1
1-11854107-C-G c.1387G>C p.E463Q Missense 9/12 - 2
1-11854107-C-T c.1387G>A p.E463K Missense 9/12 - 1
1-11854110-C-T c.1384G>A p.A462T Missense 9/12 - 3
1-11854111-C-T c.1383G>A p.A461= Synonymous 9/12 - 1
1-11854112-G-A c.1382C>T p.A461V Missense 9/12 - 1
1-11854113-C-A c.1381G>T p.A461S Missense 9/12 - 1
1-11854113-C-T c.1381G>A p.A461T Missense 9/12 - 1
1-11854116-G-A c.1378C>T p.L460= Synonymous 9/12 - 1
1-11854118-G-A c.1376C>T p.P459L Missense 9/12 - 2
1-11854119-G-C c.1375C>G p.P459A Missense 9/12 - 1
1-11854124-T-A c.1370A>T p.D457V Missense 9/12 - 1
1-11854125-C-G c.1369G>C p.D457H Missense 9/12 - 2
1-11854125-C-T c.1369G>A p.D457N Missense 9/12 - 1
1-11854126-G-A c.1368C>T p.N456= Synonymous 9/12 - 1
1-11854128-T-C c.1366A>G p.N456D Missense 9/12 - 1
1-11854129-C-A c.1365G>T p.W455C Missense 9/12 - 2
1-11854129-C-G c.1365G>C p.W455C Missense 9/12 - 2
1-11854130-C-A c.1364G>T p.W455L Missense 9/12 - 1
1-11854134-G-T c.1360C>A p.P454T Missense 9/12 - 1
1-11854135-C-A c.1359G>T p.L453= Synonymous 9/12 - 1
1-11854135-C-G c.1359G>C p.L453= Synonymous 9/12 - 1
1-11854135-C-T c.1359G>A p.L453= Synonymous 9/12 - 1
1-11854137-G-A c.1357C>T p.L453= Synonymous 9/12 - 2
1-11854139-C-A c.1355G>T p.C452F Missense 9/12 - 1
1-11854139-CA-GT c.1354_1355delinsAC p.C452T Missense 9/12 - 6
1-11854139-C-T c.1355G>A p.C452Y Missense 9/12 - 2
1-11854145-AC-TA c.1348_1349delinsTA p.V450* Nonsense 9/12 - 1
1-11854146-C-A c.1348G>T p.V450L Missense 9/12 - 1
1-11854393-T-G c.1347+22A>C - IntronicSNV - 8/11 1
1-11854414-C-T c.1347+1G>A - IntronicSNV - 8/11 2
1-11854414-CT-C c.1347del p.V450* Frameshift 8/12 - 1
1-11854419-T-C c.1343A>G p.H448R Missense 8/12 - 1
1-11854420-G-C c.1342C>G p.H448D Missense 8/12 - 1
1-11854426-T-C c.1336A>G p.N446D Missense 8/12 - 1
1-11854427-C-A c.1335G>T p.R445= Synonymous 8/12 - 1
1-11854427-TCC-T c.1334_1335del p.R445Qfs*13 Frameshift 8/12 - 1
1-11854428-C-T c.1334G>A p.R445Q Missense 8/12 - 1
1-11854429-G-A c.1333C>T p.R445W Missense 8/12 - 3
1-11854431-T-G c.1331A>C p.N444T Missense 8/12 - 2
1-11854435-G-A c.1327C>T p.P443S Missense 8/12 - 1
1-11854435-G-T c.1327C>A p.P443T Missense 8/12 - 1
1-11854436-T-A c.1326A>T p.E442D Missense 8/12 - 1
1-11854436-T-G c.1326A>C p.E442D Missense 8/12 - 1
1-11854442-C-A c.1320G>T p.S440= Synonymous 8/12 - 2
1-11854442-C-G c.1320G>C p.S440= Synonymous 8/12 - 2
1-11854442-C-T c.1320G>A p.S440= Synonymous 8/12 - 4
1-11854443-G-A c.1319C>T p.S440L Missense 8/12 - 4
1-11854445-G-A c.1317C>T p.L439= Synonymous 8/12 - 3
1-11854445-GAG-TTA c.1315_1317delinsTAA p.L439* Nonsense 8/12 - 1
1-11854446-A-C c.1316T>G p.L439R Missense 8/12 - 1
1-11854446-A-G c.1316T>C p.L439P Missense 8/12 - 3
1-11854446-AG-CA c.1315_1316delinsTG p.L439C Missense 8/12 - 1
1-11854452-A-T c.1310T>A p.L437H Missense 8/12 - 1
1-11854455-A-G c.1307T>C p.V436A Missense 8/12 - 1
1-11854456-C-T c.1306G>A p.V436I Missense 8/12 - 1
1-11854457-CGA-C c.1304_1305del p.F435Cfs*23 Frameshift 8/12 - 1
1-11854457-G-A c.1305C>T p.F435= Synonymous 8/12 - 49
1-11854458-A-G c.1304T>C p.F435S Missense 8/12 - 2
1-11854460-G-A c.1302C>T p.V434= Synonymous 8/12 - 2
1-11854460-G-C c.1302C>G p.V434= Synonymous 8/12 - 3
1-11854460-G-T c.1302C>A p.V434= Synonymous 8/12 - 2
1-11854462-C-G c.1300G>C p.V434L Missense 8/12 - 1
1-11854464-T-G c.1298A>C p.E433A Missense 8/12 - 85
1-11854465-C-T c.1297G>A p.E433K Missense 8/12 - 1
1-11854473-C-A c.1289G>T p.S430I Missense 8/12 - 1
1-11854474-T-G c.1288A>C p.S430R Missense 8/12 - 1
1-11854475-T-A c.1287A>T p.E429D Missense 8/12 - 1
1-11854475-T-C c.1287A>G p.E429= Synonymous 8/12 - 1
1-11854475-T-G c.1287A>C p.E429D Missense 8/12 - 1
1-11854476-T-A c.1286A>T p.E429V Missense 8/12 - 3
1-11854476-T-C c.1286A>G p.E429G Missense 8/12 - 1
1-11854476-T-G c.1286A>C p.E429A Missense 8/12 - 876
1-11854477-C-T c.1285G>A p.E429K Missense 8/12 - 1
1-11854479-T-G c.1283A>C p.E428A Missense 8/12 - 3
1-11854480-C-G c.1282G>C p.E428Q Missense 8/12 - 1
1-11854481-A-G c.1281T>C p.S427= Synonymous 8/12 - 1
1-11854485-G-A c.1277C>T p.T426I Missense 8/12 - 2
1-11854487-CAG-AAA c.1273_1275delinsTTT p.L425F Missense 8/12 - 1
1-11854489-G-C c.1273C>G p.L425V Missense 8/12 - 2
1-11854492-C-CA c.1269_1270insT p.E424* Nonsense 8/12 - 1
1-11854494-T-G c.1268A>C p.E423A Missense 8/12 - 1
1-11854495-C-T c.1267G>A p.E423K Missense 8/12 - 4
1-11854496-C-G c.1266G>C p.G422= Synonymous 8/12 - 1
1-11854486-TCAGCTCCTCCCCCCACATCTTCAG-T c.1252_1275del p.L418_L425del InFrameDeletion 8/12 - 1
1-11854497-C-T c.1265G>A p.G422E Missense 8/12 - 1
1-11854498-C-G c.1264G>C p.G422R Missense 8/12 - 10
1-11854498-C-T c.1264G>A p.G422R Missense 8/12 - 11
1-11854494-T-TC c.1267dup p.E423Gfs*6 Frameshift 8/12 - 3
1-11854499-C-T c.1263G>A p.W421* Nonsense 8/12 - 1
1-11854500-C-CTG c.1261_1262insCA p.W421Sfs*6 Frameshift 8/12 - 1
1-11854500-C-G c.1262G>C p.W421S Missense 8/12 - 5
1-11854500-C-T c.1262G>A p.W421* Nonsense 8/12 - 1
1-11854502-C-T c.1260G>A p.M420I Missense 8/12 - 1
1-11854503-A-G c.1259T>C p.M420T Missense 8/12 - 2
1-11854504-T-C c.1258A>G p.M420V Missense 8/12 - 1
1-11854507-T-A c.1255A>T p.K419* Nonsense 8/12 - 1
1-11854508-C-T c.1254G>A p.L418= Synonymous 8/12 - 3
1-11854510-G-A c.1252C>T p.L418= Synonymous 8/12 - 1
1-11854514-C-A c.1248G>T p.E416D Missense 8/12 - 1
1-11854514-C-G c.1248G>C p.E416D Missense 8/12 - 1
1-11854516-C-T c.1246G>A p.E416K Missense 8/12 - 1
1-11854519-C-T c.1243G>A p.E415K Missense 8/12 - 1
1-11854521-T-C c.1241A>G p.K414R Missense 8/12 - 1
1-11854522-T-C c.1240A>G p.K414E Missense 8/12 - 1
1-11854524-G-A c.1238C>T p.P413L Missense 8/12 - 2
1-11854525-G-A c.1237C>T p.P413S Missense 8/12 - 1
1-11854526-G-A c.1236C>T p.S412= Synonymous 8/12 - 3
1-11854526-G-C c.1236C>G p.S412= Synonymous 8/12 - 1
1-11854526-G-T c.1236C>A p.S412= Synonymous 8/12 - 1
1-11854527-G-T c.1235C>A p.S412Y Missense 8/12 - 2
1-11854528-A-G c.1234T>C p.S412P Missense 8/12 - 3
1-11854530-T-C c.1232A>G p.K411R Missense 8/12 - 1
1-11854531-T-G c.1231A>C p.K411Q Missense 8/12 - 1
1-11854535-C-T c.1227G>A p.K409= Synonymous 8/12 - 1
1-11854538-C-G c.1224G>C p.L408= Synonymous 8/12 - 1
1-11854540-G-A c.1222C>T p.L408= Synonymous 8/12 - 3
1-11854549-G-A c.1213C>T p.L405F Missense 8/12 - 1
1-11854550-G-C c.1212C>G p.Y404* Nonsense 8/12 - 1
1-11854552-A-G c.1210T>C p.Y404H Missense 8/12 - 1
1-11854558-C-G c.1204G>C p.D402H Missense 8/12 - 1
1-11854558-C-T c.1204G>A p.D402N Missense 8/12 - 1
1-11854559-C-T c.1203G>A p.K401= Synonymous 8/12 - 1
1-11854559-CT-GA c.1202_1203delinsTC p.K401I Missense 8/12 - 1
1-11854560-T-C c.1202A>G p.K401R Missense 8/12 - 1
1-11854563-A-G c.1199T>C p.L400P Missense 8/12 - 1
1-11854568-CCC-ACA c.1192_1194delinsTGT p.G398C Missense 8/12 - 1
1-11854569-C-G c.1193G>C p.G398A Missense 8/12 - 1
1-11854572-A-G c.1190T>C p.F397S Missense 8/12 - 1
1-11854571-A-C c.1191T>G p.F397L Missense 8/12 - 2
1-11854571-A-T c.1191T>A p.F397L Missense 8/12 - 2
1-11854573-A-G c.1189T>C p.F397L Missense 8/12 - 2
1-11854579-G-A c.1183C>T p.P395S Missense 8/12 - 2
1-11854583-A-C c.1179T>G p.S393= Synonymous 8/12 - 2
1-11854583-A-G c.1179T>C p.S393= Synonymous 8/12 - 3
1-11854583-A-T c.1179T>A p.S393= Synonymous 8/12 - 2
1-11854584-G-A c.1178C>T p.S393F Missense 8/12 - 4
1-11854586-G-A c.1176C>T p.S392= Synonymous 8/12 - 1
1-11854593-C-T c.1169G>A p.G390D Missense 8/12 - 1
1-11854594-C-G c.1168G>C p.G390R Missense 8/12 - 1
1-11854594-C-T c.1168G>A p.G390S Missense 8/12 - 1
1-11854671-C-A c.1167-76G>T - IntronicSNV - 7/11 20
1-11854732-C-A c.1166+54G>T - IntronicSNV - 7/11 1
1-11854755-G-A c.1166+31C>T - IntronicSNV - 7/11 22
1-11854781-C-G c.1166+5G>C - IntronicSNV - 7/11 1
1-11854785-C-T c.1166+1G>A - IntronicSNV - 7/11 2
1-11854595-C-T c.1167G>A p.W389* Nonsense 8/12 - 1
1-11854786-C-T c.1166G>A p.W389* Nonsense 7/12 - 4
1-11854788-GCG-TCA c.1162_1164delinsTGA p.R388* Nonsense 7/12 - 1
1-11854789-C-T c.1163G>A p.R388H Missense 7/12 - 4
1-11854790-G-A c.1162C>T p.R388C Missense 7/12 - 2
1-11854792-C-T c.1160G>A p.G387D Missense 7/12 - 6
1-11854793-C-T c.1159G>A p.G387S Missense 7/12 - 1
1-11854796-T-G c.1156A>C p.N386H Missense 7/12 - 1
1-11854796-T-TAGACA c.1155_1156insTGTCT p.N386Cfs*17 Frameshift 7/12 - 1
1-11854798-G-A c.1154C>T p.P385L Missense 7/12 - 1
1-11854800-GAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCC-G c.1100_1151del p.W367Sfs*17 Frameshift 7/12 - 1
1-11854803-C-T c.1149G>A p.E383= Synonymous 7/12 - 1
1-11854808-C-T c.1144G>A p.D382N Missense 7/12 - 1
1-11854809-C-T c.1143G>A p.W381* Nonsense 7/12 - 1
1-11854810-C-A c.1142G>T p.W381L Missense 7/12 - 1
1-11854810-C-T c.1142G>A p.W381* Nonsense 7/12 - 2
1-11854811-A-G c.1141T>C p.W381R Missense 7/12 - 3
1-11854811-A-T c.1141T>A p.W381R Missense 7/12 - 2
1-11854812-C-T c.1140G>A p.E380= Synonymous 7/12 - 1
1-11854815-C-A c.1137G>T p.Q379H Missense 7/12 - 1
1-11854817-G-T c.1135C>A p.Q379K Missense 7/12 - 3
1-11854818-G-A c.1134C>T p.T378= Synonymous 7/12 - 1
1-11854818-G-C c.1134C>G p.T378= Synonymous 7/12 - 1
1-11854818-G-T c.1134C>A p.T378= Synonymous 7/12 - 1
1-11854821-ACG-CCA c.1129_1131delinsTGG p.R377W Missense 7/12 - 1
1-11854822-C-T c.1130G>A p.R377H Missense 7/12 - 12
1-11854823-G-A c.1129C>T p.R377C Missense 7/12 - 10
1-11854826-A-G c.1126T>C p.Y376H Missense 7/12 - 1
1-11854827-G-A c.1125C>T p.I375= Synonymous 7/12 - 1
1-11854830-G-C c.1122C>G p.Y374* Nonsense 7/12 - 1
1-11854833-A-G c.1119T>C p.S373= Synonymous 7/12 - 1
1-11854837-T-A c.1115A>T p.K372M Missense 7/12 - 1
1-11854838-T-C c.1114A>G p.K372E Missense 7/12 - 7
1-11854836-CT-C c.1115del p.K372Rfs*29 Frameshift 7/12 - 1
1-11854842-TCT-ACA c.1108_1110delinsTGT p.R370C Missense 7/12 - 2
1-11854846-G-C c.1106C>G p.S369C Missense 7/12 - 1
1-11854848-G-A c.1104C>T p.A368= Synonymous 7/12 - 1
1-11854848-G-C c.1104C>G p.A368= Synonymous 7/12 - 1
1-11854848-G-T c.1104C>A p.A368= Synonymous 7/12 - 1
1-11854849-G-C c.1103C>G p.A368G Missense 7/12 - 2
1-11854849-GC-AG c.1102_1103delinsCT p.A368L Missense 7/12 - 2
1-11854849-G-T c.1103C>A p.A368D Missense 7/12 - 1
1-11854850-C-A c.1102G>T p.A368S Missense 7/12 - 2
1-11854852-C-G c.1100G>C p.W367S Missense 7/12 - 1
1-11854854-G-C c.1098C>G p.F366L Missense 7/12 - 2
1-11854854-G-T c.1098C>A p.F366L Missense 7/12 - 1
1-11854856-A-G c.1096T>C p.F366L Missense 7/12 - 2
1-11854860-G-A c.1092C>T p.P364= Synonymous 7/12 - 1
1-11854861-G-A c.1091C>T p.P364L Missense 7/12 - 1
1-11854862-G-A c.1090C>T p.P364S Missense 7/12 - 3
1-11854862-G-T c.1090C>A p.P364T Missense 7/12 - 1
1-11854863-ACG-TCA c.1087_1089delinsTGA p.R363* Nonsense 7/12 - 1
1-11854863-AC-TT c.1088_1089delinsAA p.R363Q Missense 7/12 - 1
1-11854864-C-T c.1088G>A p.R363H Missense 7/12 - 8
1-11854865-G-A c.1087C>T p.R363C Missense 7/12 - 1
1-11854866-TAC-AAA c.1084_1086delinsTTT p.V362F Missense 7/12 - 1
1-11854866-T-G c.1086A>C p.V362= Synonymous 7/12 - 1
1-11854871-C-G c.1081G>C p.D361H Missense 7/12 - 2
1-11854871-C-T c.1081G>A p.D361N Missense 7/12 - 1
1-11854878-TC-AT c.1073_1074delinsAT p.R358H Missense 7/12 - 1
1-11854879-C-T c.1073G>A p.R358Q Missense 7/12 - 1
1-11854880-G-A c.1072C>T p.R358* Nonsense 7/12 - 5
1-11854882-C-A c.1070G>T p.R357L Missense 7/12 - 1
1-11854882-C-T c.1070G>A p.R357H Missense 7/12 - 6
1-11854883-G-A c.1069C>T p.R357C Missense 7/12 - 5
1-11854889-G-A c.1063C>T p.P355S Missense 7/12 - 3
1-11854889-G-T c.1063C>A p.P355T Missense 7/12 - 1
1-11854892-G-A c.1060C>T p.H354Y Missense 7/12 - 5
1-11854894-G-A c.1058C>T p.A353V Missense 7/12 - 2
1-11854896-G-A c.1056C>T p.S352= Synonymous 7/12 - 31
1-11854898-T-TA c.1053_1054insT p.S352* Nonsense 7/12 - 1
1-11854899-G-C c.1053C>G p.L351= Synonymous 7/12 - 1
1-11854903-G-T c.1049C>A p.A350D Missense 7/12 - 1
1-11854910-G-A c.1042C>T p.P348S Missense 7/12 - 4
1-11854913-G-A c.1039C>T p.L347= Synonymous 7/12 - 1
1-11854918-C-T c.1034G>A p.R345H Missense 7/12 - 4
1-11854919-G-A c.1033C>T p.R345C Missense 7/12 - 3
1-11854926-T-C c.1032-6A>G - IntronicSNV - 6/11 1
1-11855038-C-T c.1031+117G>A - IntronicSNV - 6/11 1
1-11855072-T-C c.1031+83A>G - IntronicSNV - 6/11 2
1-11855147-G-A c.1031+8C>T - IntronicSNV - 6/11 1
1-11855153-A-G c.1031+2T>C - IntronicSNV - 6/11 1
1-11855155-C-A c.1031G>T p.R344M Missense 6/12 - 1
1-11855156-T-C c.1030A>G p.R344G Missense 6/12 - 4
1-11855158-G-A c.1028C>T p.P343L Missense 6/12 - 1
1-11855160-G-C c.1026C>G p.D342E Missense 6/12 - 1
1-11855160-G-T c.1026C>A p.D342E Missense 6/12 - 1
1-11855162-C-T c.1024G>A p.D342N Missense 6/12 - 2
1-11855170-C-T c.1016G>A p.W339* Nonsense 6/12 - 1
1-11855171-A-C c.1015T>G p.W339G Missense 6/12 - 9
1-11855173-A-G c.1013T>C p.M338T Missense 6/12 - 4
1-11855175-C-A c.1011G>T p.G337= Synonymous 6/12 - 1
1-11855175-C-G c.1011G>C p.G337= Synonymous 6/12 - 1
1-11855175-C-T c.1011G>A p.G337= Synonymous 6/12 - 1
1-11855176-C-G c.1010G>C p.G337A Missense 6/12 - 1
1-11855176-C-T c.1010G>A p.G337E Missense 6/12 - 1
1-11855182-C-G c.1004G>C p.R335P Missense 6/12 - 1
1-11855182-C-T c.1004G>A p.R335H Missense 6/12 - 11
1-11855183-G-A c.1003C>T p.R335C Missense 6/12 - 9
1-11855184-C-T c.1002G>A p.K334= Synonymous 6/12 - 2
1-11855188-A-G c.998T>C p.L333P Missense 6/12 - 3
1-11855189-G-A c.997C>T p.L333= Synonymous 6/12 - 1
1-11855190-C-A c.996G>T p.V332= Synonymous 6/12 - 1
1-11855190-C-G c.996G>C p.V332= Synonymous 6/12 - 1
1-11855190-C-T c.996G>A p.V332= Synonymous 6/12 - 1
1-11855191-A-G c.995T>C p.V332A Missense 6/12 - 1
1-11855193-C-T c.993G>A p.E331= Synonymous 6/12 - 1
1-11855199-G-A c.987C>T p.T329= Synonymous 6/12 - 1
1-11855199-G-C c.987C>G p.T329= Synonymous 6/12 - 1
1-11855199-G-T c.987C>A p.T329= Synonymous 6/12 - 1
1-11855200-G-A c.986C>T p.T329I Missense 6/12 - 2
1-11855201-T-A c.985A>T p.T329S Missense 6/12 - 1
1-11855204-C-T c.982G>A p.A328T Missense 6/12 - 1
1-11855205-C-A c.981G>T p.M327I Missense 6/12 - 2
1-11855205-C-G c.981G>C p.M327I Missense 6/12 - 1
1-11855205-C-T c.981G>A p.M327I Missense 6/12 - 1
1-11855208-C-T c.978G>A p.E326= Synonymous 6/12 - 1
1-11855209-TC-GA c.976_977inv p.E326S Missense 6/12 - 1
1-11855210-C-G c.976G>C p.E326Q Missense 6/12 - 3
1-11855210-C-T c.976G>A p.E326K Missense 6/12 - 1
1-11855211-GCG-CCA c.973_975delinsTGG p.R325W Missense 6/12 - 1
1-11855212-C-A c.974G>T p.R325L Missense 6/12 - 2
1-11855212-C-T c.974G>A p.R325H Missense 6/12 - 2
1-11855213-G-A c.973C>T p.R325C Missense 6/12 - 7
1-11855214-G-C c.972C>G p.N324K Missense 6/12 - 1
1-11855215-T-C c.971A>G p.N324S Missense 6/12 - 7
1-11855217-G-A c.969C>T p.L323= Synonymous 6/12 - 1
1-11855217-G-C c.969C>G p.L323= Synonymous 6/12 - 1
1-11855217-G-T c.969C>A p.L323= Synonymous 6/12 - 1
1-11855218-A-G c.968T>C p.L323P Missense 6/12 - 6
1-11855219-G-A c.967C>T p.L323F Missense 6/12 - 5
1-11855220-G-A c.966C>T p.T322= Synonymous 6/12 - 1
1-11855231-G-A c.955C>T p.H319Y Missense 6/12 - 1
1-11855236-C-T c.950G>A p.G317D Missense 6/12 - 1
1-11855237-C-T c.949G>A p.G317S Missense 6/12 - 1
1-11855239-G-A c.947C>T p.P316L Missense 6/12 - 1
1-11855241-C-G c.945G>C p.V315= Synonymous 6/12 - 1
1-11855250-A-G c.936T>C p.S312= Synonymous 6/12 - 1
1-11855251-CT-AA c.934_935delinsTT p.S312F Missense 6/12 - 1
1-11855252-T-C c.934A>G p.S312G Missense 6/12 - 1
1-11855254-G-A c.932C>T p.A311V Missense 6/12 - 1
1-11855257-A-G c.929T>C p.L310P Missense 6/12 - 2
1-11855259-AA-TT c.926_927inv p.L309Q Missense 6/12 - 1
1-11855260-A-G c.926T>C p.L309P Missense 6/12 - 1
1-11855260-AG-GC c.925_926delinsGC p.L309A Missense 6/12 - 1
1-11855260-A-T c.926T>A p.L309H Missense 6/12 - 2
1-11855261-G-A c.925C>T p.L309F Missense 6/12 - 1
1-11855268-G-A c.918C>T p.C306= Synonymous 6/12 - 1
1-11855270-A-G c.916T>C p.C306R Missense 6/12 - 1
1-11855271-C-G c.915G>C p.L305= Synonymous 6/12 - 1
1-11855275-CT-AA c.910_911delinsTT p.S304F Missense 6/12 - 1
1-11855277-C-A c.909G>T p.V303= Synonymous 6/12 - 1
1-11855277-C-G c.909G>C p.V303= Synonymous 6/12 - 1
1-11855277-C-T c.909G>A p.V303= Synonymous 6/12 - 1
1-11855279-C-T c.907G>A p.V303M Missense 6/12 - 5
1-11855280-G-A c.906C>T p.A302= Synonymous 6/12 - 1
1-11855286-C-A c.900G>T p.E300D Missense 6/12 - 1
1-11855286-C-G c.900G>C p.E300D Missense 6/12 - 1
1-11855289-G-A c.897C>T p.I299= Synonymous 6/12 - 3
1-11855289-G-T c.897C>A p.I299= Synonymous 6/12 - 1
1-11855293-CC-GT c.892_893delinsAC p.G298T Missense 6/12 - 2
1-11855293-C-G c.893G>C p.G298A Missense 6/12 - 1
1-11855293-C-T c.893G>A p.G298D Missense 6/12 - 3
1-11855295-A-T c.891T>A p.Y297* Nonsense 6/12 - 1
1-11855302-C-A c.884G>T p.R295L Missense 6/12 - 3
1-11855302-C-T c.884G>A p.R295H Missense 6/12 - 2
1-11855303-G-A c.883C>T p.R295C Missense 6/12 - 1
1-11855304-G-A c.882C>T p.I294= Synonymous 6/12 - 1
1-11855305-A-G c.881T>C p.I294T Missense 6/12 - 2
1-11855306-T-A c.880A>T p.I294F Missense 6/12 - 1
1-11855306-T-C c.880A>G p.I294V Missense 6/12 - 1
1-11855309-C-G c.877G>C p.A293P Missense 6/12 - 1
1-11855311-G-A c.875C>T p.A292V Missense 6/12 - 3
1-11855315-C-G c.871G>C p.D291H Missense 6/12 - 1
1-11855315-C-T c.871G>A p.D291N Missense 6/12 - 3
1-11855316-G-A c.870C>T p.N290= Synonymous 6/12 - 3
1-11855316-G-C c.870C>G p.N290K Missense 6/12 - 2
1-11855318-T-G c.868A>C p.N290H Missense 6/12 - 1
1-11855319-G-C c.867C>G p.D289E Missense 6/12 - 2
1-11855319-G-T c.867C>A p.D289E Missense 6/12 - 3
1-11855324-T-A c.862A>T p.K288* Nonsense 6/12 - 1
1-11855326-A-G c.860T>C p.I287T Missense 6/12 - 1
1-11855326-A-AT c.859dup p.I287Nfs*55 Frameshift 6/12 - 1
1-11855333-C-G c.853G>C p.E285Q Missense 6/12 - 1
1-11855333-C-T c.853G>A p.E285K Missense 6/12 - 2
1-11855336-T-A c.850A>T p.I284F Missense 6/12 - 1
1-11855338-A-G c.848T>C p.V283A Missense 6/12 - 1
1-11855339-C-T c.847G>A p.V283M Missense 6/12 - 3
1-11855342-C-T c.844G>A p.D282N Missense 6/12 - 2
1-11855346-G-A c.840C>T p.I280= Synonymous 6/12 - 1
1-11855346-G-C c.840C>G p.I280M Missense 6/12 - 1
1-11855348-T-G c.838A>C p.I280L Missense 6/12 - 1
1-11855349-C-A c.837G>T p.E279D Missense 6/12 - 1
1-11855349-C-G c.837G>C p.E279D Missense 6/12 - 1
1-11855351-C-A c.835G>T p.E279* Nonsense 6/12 - 1
1-11855354-G-A c.832C>T p.Q278* Nonsense 6/12 - 1
1-11855360-C-A c.826G>T p.V276L Missense 6/12 - 1
1-11855364-C-G c.822G>C p.L274= Synonymous 6/12 - 1
1-11855367-C-T c.819G>A p.K273= Synonymous 6/12 - 1
1-11855372-A-G c.814T>C p.S272P Missense 6/12 - 2
1-11855372-A-T c.814T>A p.S272T Missense 6/12 - 1
1-11855381-C-T c.805G>A p.V269M Missense 6/12 - 1
1-11855382-A-C c.804T>G p.L268= Synonymous 6/12 - 2
1-11855382-A-G c.804T>C p.L268= Synonymous 6/12 - 2
1-11855382-A-T c.804T>A p.L268= Synonymous 6/12 - 2
1-11855384-G-A c.802C>T p.L268F Missense 6/12 - 1
1-11855389-C-T c.797G>A p.R266Q Missense 6/12 - 1
1-11855390-G-A c.796C>T p.R266W Missense 6/12 - 1
1-11855394-G-A c.792C>T p.S264= Synonymous 6/12 - 3
1-11855395-G-A c.791C>T p.S264F Missense 6/12 - 1
1-11855395-G-C c.791C>G p.S264C Missense 6/12 - 2
1-11855397-G-A c.789C>T p.H263= Synonymous 6/12 - 1
1-11855397-G-C c.789C>G p.H263Q Missense 6/12 - 1
1-11855397-G-T c.789C>A p.H263Q Missense 6/12 - 1
1-11855398-T-G c.788A>C p.H263P Missense 6/12 - 2
1-11855401-T-G c.785A>C p.Y262S Missense 6/12 - 1
1-11855405-C-A c.781G>T p.G261C Missense 6/12 - 1
1-11855867-G-A c.780+396C>T - IntronicSNV - 5/11 10
1-11855897-A-C c.780+366T>G - IntronicSNV - 5/11 3
1-11855897-A-G c.780+366T>C - IntronicSNV - 5/11 3
1-11856084-G-A c.780+179C>T - IntronicSNV - 5/11 2
1-11856260-C-T c.780+3G>A - IntronicSNV - 5/11 1
1-11856262-C-A c.780+1G>T - IntronicSNV - 5/11 1
1-11856262-C-T c.780+1G>A - IntronicSNV - 5/11 1
1-11856267-A-T c.776T>A p.I259N Missense 5/12 - 1
1-11856270-G-C c.773C>G p.P258R Missense 5/12 - 1
1-11856270-G-T c.773C>A p.P258H Missense 5/12 - 1
1-11856271-G-A c.772C>T p.P258S Missense 5/12 - 1
1-11856271-G-C c.772C>G p.P258A Missense 5/12 - 1
1-11856272-A-T c.771T>A p.F257L Missense 5/12 - 3
1-11856273-A-G c.770T>C p.F257S Missense 5/12 - 1
1-11856274-A-C c.769T>G p.F257V Missense 5/12 - 3
1-11856275-G-A c.768C>T p.I256= Synonymous 5/12 - 1
1-11856275-G-T c.768C>A p.I256= Synonymous 5/12 - 1
1-11856276-A-T c.767T>A p.I256N Missense 5/12 - 5
1-11856279-C-A c.764G>T p.G255V Missense 5/12 - 4
1-11856280-C-T c.763G>A p.G255R Missense 5/12 - 1
1-11856283-G-A c.760C>T p.P254S Missense 5/12 - 4
1-11856285-A-C c.758T>G p.V253G Missense 5/12 - 1
1-11856286-C-A c.757G>T p.V253F Missense 5/12 - 2
1-11856286-C-T c.757G>A p.V253I Missense 5/12 - 4
1-11856291-G-A c.752C>T p.P251L Missense 5/12 - 4
1-11856292-G-A c.751C>T p.P251S Missense 5/12 - 2
1-11856294-C-T c.749G>A p.C250Y Missense 5/12 - 1
1-11856295-A-G c.748T>C p.C250R Missense 5/12 - 2
1-11856298-T-C c.745A>G p.T249A Missense 5/12 - 2
1-11856298-T-G c.745A>C p.T249P Missense 5/12 - 4
1-11856299-G-C c.744C>G p.I248M Missense 5/12 - 2
1-11856301-T-C c.742A>G p.I248V Missense 5/12 - 3
1-11856306-A-G c.737T>C p.M246T Missense 5/12 - 1
1-11856306-A-T c.737T>A p.M246K Missense 5/12 - 2
1-11856310-C-T c.733G>A p.D245N Missense 5/12 - 1
1-11856311-G-A c.732C>T p.T244= Synonymous 5/12 - 1
1-11856311-G-C c.732C>G p.T244= Synonymous 5/12 - 1
1-11856311-G-T c.732C>A p.T244= Synonymous 5/12 - 1
1-11856312-G-A c.731C>T p.T244I Missense 5/12 - 1
1-11856315-C-A c.728G>T p.C243F Missense 5/12 - 1
1-11856317-T-A c.726A>T p.A242= Synonymous 5/12 - 2
1-11856317-T-C c.726A>G p.A242= Synonymous 5/12 - 2
1-11856317-T-G c.726A>C p.A242= Synonymous 5/12 - 3
1-11856318-G-T c.725C>A p.A242E Missense 5/12 - 1
1-11856319-C-A c.724G>T p.A242S Missense 5/12 - 1
1-11856319-C-G c.724G>C p.A242P Missense 5/12 - 1
1-11856321-T-A c.722A>T p.K241M Missense 5/12 - 1
1-11856322-T-C c.721A>G p.K241E Missense 5/12 - 1
1-11856325-C-T c.718G>A p.V240M Missense 5/12 - 1
1-11856329-GCG-CTT c.712_714delinsAAG p.R238K Missense 5/12 - 1
1-11856330-C-T c.713G>A p.R238H Missense 5/12 - 2
1-11856331-G-A c.712C>T p.R238C Missense 5/12 - 3
1-11856333-A-G c.710T>C p.F237S Missense 5/12 - 1
1-11856335-G-A c.708C>T p.F236= Synonymous 5/12 - 3
1-11856335-G-C c.708C>G p.F236L Missense 5/12 - 2
1-11856335-G-T c.708C>A p.F236L Missense 5/12 - 2
1-11856337-A-G c.706T>C p.F236L Missense 5/12 - 2
1-11856338-T-A c.705A>T p.T235= Synonymous 5/12 - 1
1-11856338-T-C c.705A>G p.T235= Synonymous 5/12 - 1
1-11856338-T-G c.705A>C p.T235= Synonymous 5/12 - 1
1-11856338-TG-CA c.704_705inv p.T235M Missense 5/12 - 1
1-11856339-G-A c.704C>T p.T235I Missense 5/12 - 2
1-11856339-G-C c.704C>G p.T235R Missense 5/12 - 4
1-11856343-C-A c.700G>T p.D234Y Missense 5/12 - 1
1-11856343-C-T c.700G>A p.D234N Missense 5/12 - 3
1-11856345-G-A c.698C>T p.A233V Missense 5/12 - 1
1-11856345-G-C c.698C>G p.A233G Missense 5/12 - 3
1-11856346-C-A c.697G>T p.A233S Missense 5/12 - 1
1-11856345-GC-G c.697del p.A233Lfs*8 Frameshift 5/12 - 1
1-11856347-C-A c.696G>T p.E232D Missense 5/12 - 1
1-11856349-C-G c.694G>C p.E232Q Missense 5/12 - 1
1-11856349-C-T c.694G>A p.E232K Missense 5/12 - 1
1-11856353-G-C c.690C>G p.F230L Missense 5/12 - 1
1-11856353-G-T c.690C>A p.F230L Missense 5/12 - 1
1-11856355-A-G c.688T>C p.F230L Missense 5/12 - 1
1-11856357-A-G c.686T>C p.L229P Missense 5/12 - 2
1-11856361-G-A c.682C>T p.Q228* Nonsense 5/12 - 1
1-11856362-C-T c.681G>A p.T227= Synonymous 5/12 - 2
1-11856363-G-A c.680C>T p.T227M Missense 5/12 - 8
1-11856364-T-C c.679A>G p.T227A Missense 5/12 - 1
1-11856366-A-G c.677T>C p.I226T Missense 5/12 - 1
1-11856367-T-C c.676A>G p.I226V Missense 5/12 - 2
1-11856363-GTGA-G c.677_679del p.I226del InFrameDeletion 5/12 - 3
1-11856370-T-C c.673A>G p.I225V Missense 5/12 - 2
1-11856370-T-G c.673A>C p.I225L Missense 5/12 - 3
1-11856374-A-C c.669T>G p.D223E Missense 5/12 - 1
1-11856374-A-T c.669T>A p.D223E Missense 5/12 - 1
1-11856376-C-G c.667G>C p.D223H Missense 5/12 - 1
1-11856376-C-T c.667G>A p.D223N Missense 5/12 - 13
1-11856377-G-A c.666C>T p.A222= Synonymous 5/12 - 3
1-11856377-G-C c.666C>G p.A222= Synonymous 5/12 - 3
1-11856377-G-T c.666C>A p.A222= Synonymous 5/12 - 3
1-11856378-G-A c.665C>T p.A222V Missense 5/12 - 1536
1-11856378-G-T c.665C>A p.A222D Missense 5/12 - 1
1-11856380-TCC-GCT c.661_663delinsAGC p.G221S Missense 5/12 - 1
1-11856381-C-T c.662G>A p.G221E Missense 5/12 - 1
1-11856382-C-T c.661G>A p.G221R Missense 5/12 - 5
1-11856380-TC-T c.662del p.G221Efs*20 Frameshift 5/12 - 3
1-11856383-C-A c.660G>T p.A220= Synonymous 5/12 - 4
1-11856383-C-G c.660G>C p.A220= Synonymous 5/12 - 1
1-11856383-C-T c.660G>A p.A220= Synonymous 5/12 - 4
1-11856384-G-A c.659C>T p.A220V Missense 5/12 - 4
1-11856386-CAGA-C c.655_657del p.S219del InFrameDeletion 5/12 - 1
1-11856387-G-A c.656C>T p.S219F Missense 5/12 - 1
1-11856387-GA-CC c.655_656delinsGG p.S219G Missense 5/12 - 1
1-11856391-C-A c.652G>T p.V218L Missense 5/12 - 1
1-11856391-C-G c.652G>C p.V218L Missense 5/12 - 1
1-11856391-C-T c.652G>A p.V218M Missense 5/12 - 3
1-11856393-T-C c.650A>G p.K217R Missense 5/12 - 1
1-11856396-T-C c.647A>G p.E216G Missense 5/12 - 1
1-11856398-CT-GA c.644_645delinsTC p.K215I Missense 5/12 - 1
1-11856397-CCTT-C c.643_645del p.K215del InFrameDeletion 5/12 - 2
1-11856400-T-A c.643A>T p.K215* Nonsense 5/12 - 1
1-11856401-C-G c.642G>C p.L214F Missense 5/12 - 1
1-11856402-A-G c.641T>C p.L214S Missense 5/12 - 1
1-11856404-G-GT c.638dup p.H213Qfs*20 Frameshift 5/12 - 1
1-11856405-T-C c.638A>G p.H213R Missense 5/12 - 1
1-11856406-G-A c.637C>T p.H213Y Missense 5/12 - 1
1-11856412-G-A c.631C>T p.L211= Synonymous 5/12 - 1
1-11856413-G-T c.630C>A p.D210E Missense 5/12 - 2
1-11856414-T-C c.629A>G p.D210G Missense 5/12 - 2
1-11856415-C-G c.628G>C p.D210H Missense 5/12 - 1
1-11856415-C-T c.628G>A p.D210N Missense 5/12 - 1
1-11856417-G-A c.626C>T p.A209V Missense 5/12 - 2
1-11856417-G-C c.626C>G p.A209G Missense 5/12 - 1
1-11856419-CCTCAAAGCTCCCTGCTTCGGG-C c.604_624del p.P202_E208del InFrameDeletion 5/12 - 1
1-11856421-C-T c.622G>A p.E208K Missense 5/12 - 2
1-11856422-A-C c.621T>G p.F207L Missense 5/12 - 1
1-11856422-A-T c.621T>A p.F207L Missense 5/12 - 1
1-11856424-A-G c.619T>C p.F207L Missense 5/12 - 1
1-11856427-T-C c.616A>G p.S206G Missense 5/12 - 1
1-11856427-T-G c.616A>C p.S206R Missense 5/12 - 1
1-11856429-C-T c.614G>A p.G205E Missense 5/12 - 4
1-11856430-C-G c.613G>C p.G205R Missense 5/12 - 2
1-11856430-C-T c.613G>A p.G205R Missense 5/12 - 2
1-11856435-T-C c.608A>G p.E203G Missense 5/12 - 1
1-11856436-C-T c.607G>A p.E203K Missense 5/12 - 1
1-11856437-G-A c.606C>T p.P202= Synonymous 5/12 - 1
1-11856439-G-T c.604C>A p.P202T Missense 5/12 - 3
1-11856441-T-G c.602A>C p.H201P Missense 5/12 - 1
1-11856442-G-A c.601C>T p.H201Y Missense 5/12 - 2
1-11856444-C-A c.599G>T p.G200V Missense 5/12 - 1
1-11856444-C-T c.599G>A p.G200D Missense 5/12 - 1
1-11856445-C-T c.598G>A p.G200S Missense 5/12 - 2
1-11856447-T-TGAG c.595_596insCTC p.K199delinsTQ MultiAAMissense 5/12 - 1
1-11856448-T-G c.595A>C p.K199Q Missense 5/12 - 2
1-11856450-G-A c.593C>T p.P198L Missense 5/12 - 16
1-11856452-G-A c.591C>T p.Y197= Synonymous 5/12 - 2
1-11856453-T-C c.590A>G p.Y197C Missense 5/12 - 1
1-11856455-A-C c.588T>G p.G196= Synonymous 5/12 - 1
1-11856455-A-G c.588T>C p.G196= Synonymous 5/12 - 1
1-11856455-A-T c.588T>A p.G196= Synonymous 5/12 - 1
1-11856456-C-G c.587G>C p.G196A Missense 5/12 - 10
1-11856456-C-T c.587G>A p.G196D Missense 5/12 - 5
1-11856821-G-C c.587-365C>G - IntronicSNV - 4/11 1
1-11856847-G-A c.587-391C>T - IntronicSNV - 4/11 4
1-11857240-C-A c.587-784G>T - IntronicSNV - 4/11 3
1-11857240-C-G c.587-784G>C - IntronicSNV - 4/11 3
1-11857240-C-T c.587-784G>A - IntronicSNV - 4/11 3
1-11857525-A-T c.587-1069T>A - IntronicSNV - 4/11 2
1-11857526-A-G c.587-1070T>C - IntronicSNV - 4/11 1
1-11857526-A-T c.587-1070T>A - IntronicSNV - 4/11 1
1-11857711-T-C c.587-1255A>G - IntronicSNV - 4/11 6
1-11857788-G-A c.587-1332C>T - IntronicSNV - 4/11 20
1-11857925-C-A c.587-1469G>T - IntronicSNV - 4/11 1
1-11857926-G-A c.587-1470C>T - IntronicSNV - 4/11 1
1-11857951-T-A c.587-1495A>T - IntronicSNV - 4/11 14
1-11857951-T-C c.587-1495A>G - IntronicSNV - 4/11 14
1-11858036-A-G c.587-1580T>C - IntronicSNV - 4/11 4
1-11858324-G-A c.587-1868C>T - IntronicSNV - 4/11 3
1-11858550-C-T c.586+1719G>A - IntronicSNV - 4/11 1
1-11858584-T-C c.586+1685A>G - IntronicSNV - 4/11 1
1-11858957-T-C c.586+1312A>G - IntronicSNV - 4/11 1
1-11859701-T-G c.586+568A>C - IntronicSNV - 4/11 1
1-11860117-A-G c.586+152T>C - IntronicSNV - 4/11 6
1-11860120-T-C c.586+149A>G - IntronicSNV - 4/11 9
1-11860234-T-C c.586+35A>G - IntronicSNV - 4/11 1
1-11860269-C-A c.586G>T p.G196C Missense 4/12 - 1
1-11860269-C-T c.586G>A p.G196S Missense 4/12 - 1
1-11860271-G-A c.584C>T p.A195V Missense 4/12 - 4
1-11860277-C-A c.578G>T p.C193F Missense 4/12 - 1
1-11860277-C-T c.578G>A p.C193Y Missense 4/12 - 3
1-11860281-T-C c.574A>G p.I192V Missense 4/12 - 1
1-11860289-T-C c.566A>G p.Y189C Missense 4/12 - 1
1-11860292-T-C c.563A>G p.D188G Missense 4/12 - 1
1-11860293-C-G c.562G>C p.D188H Missense 4/12 - 1
1-11860296-C-T c.559G>A p.G187S Missense 4/12 - 1
1-11860302-C-G c.553G>C p.E185Q Missense 4/12 - 6
1-11860307-C-T c.548G>A p.R183Q Missense 4/12 - 13
1-11860308-G-A c.547C>T p.R183* Nonsense 4/12 - 6
1-11860314-G-C c.541C>G p.H181D Missense 4/12 - 2
1-11860315-C-A c.540G>T p.K180N Missense 4/12 - 1
1-11860318-CAC-GAT c.535_537delinsATC p.V179I Missense 4/12 - 2
1-11860320-C-A c.535G>T p.V179L Missense 4/12 - 1
1-11860320-C-T c.535G>A p.V179M Missense 4/12 - 2
1-11860325-T-A c.530A>T p.D177V Missense 4/12 - 1
1-11860325-T-C c.530A>G p.D177G Missense 4/12 - 1
1-11860326-C-G c.529G>C p.D177H Missense 4/12 - 2
1-11860326-C-T c.529G>A p.D177N Missense 4/12 - 3
1-11860327-C-T c.528G>A p.V176= Synonymous 4/12 - 1
1-11860328-A-G c.527T>C p.V176A Missense 4/12 - 3
1-11860330-T-A c.525A>T p.A175= Synonymous 4/12 - 1
1-11860330-T-C c.525A>G p.A175= Synonymous 4/12 - 1
1-11860330-T-G c.525A>C p.A175= Synonymous 4/12 - 1
1-11860330-TG-GT c.524_525delinsAC p.A175D Missense 4/12 - 1
1-11860332-C-T c.523G>A p.A175T Missense 4/12 - 7
1-11860333-G-A c.522C>T p.Y174= Synonymous 4/12 - 1
1-11860343-C-G c.512G>C p.G171A Missense 4/12 - 1
1-11860344-C-T c.511G>A p.G171S Missense 4/12 - 1
1-11860346-C-G c.509G>C p.G170A Missense 4/12 - 1
1-11860346-C-T c.509G>A p.G170E Missense 4/12 - 5
1-11860347-C-A c.508G>T p.G170* Nonsense 4/12 - 1
1-11860347-C-G c.508G>C p.G170R Missense 4/12 - 1
1-11860347-C-T c.508G>A p.G170R Missense 4/12 - 1
1-11860349-T-C c.506A>G p.E169G Missense 4/12 - 1
1-11860356-C-T c.499G>A p.E167K Missense 4/12 - 1
1-11860359-C-T c.496G>A p.E166K Missense 4/12 - 1
1-11860360-C-A c.495G>T p.W165C Missense 4/12 - 1
1-11860360-CC-AT c.494_495delinsAT p.W165Y Missense 4/12 - 1
1-11860360-C-G c.495G>C p.W165C Missense 4/12 - 1
1-11860361-CA-TG c.493_494inv p.W165Q Missense 4/12 - 1
1-11860363-C-T c.492G>A p.Q164= Synonymous 4/12 - 1
1-11860366-G-C c.489C>G p.D163E Missense 4/12 - 1
1-11860366-G-T c.489C>A p.D163E Missense 4/12 - 1
1-11860376-G-A c.479C>T p.P160L Missense 4/12 - 1
1-11860415-C-T c.476-36G>A - IntronicSNV - 3/11 1
1-11860455-C-T c.476-76G>A - IntronicSNV - 3/11 2
1-11860458-C-G c.476-79G>C - IntronicSNV - 3/11 11
1-11860458-C-T c.476-79G>A - IntronicSNV - 3/11 11
1-11860465-C-G c.476-86G>C - IntronicSNV - 3/11 6
1-11860683-T-C c.476-304A>G - IntronicSNV - 3/11 11
1-11860807-C-T c.475+411G>A - IntronicSNV - 3/11 1
1-11860843-G-A c.475+375C>T - IntronicSNV - 3/11 7
1-11861098-C-T c.475+120G>A - IntronicSNV - 3/11 1
1-11861120-G-A c.475+98C>T - IntronicSNV - 3/11 1
1-11861219-T-A c.474A>T p.G158= Synonymous 3/12 - 3
1-11861219-T-C c.474A>G p.G158= Synonymous 3/12 - 1
1-11861219-T-G c.474A>C p.G158= Synonymous 3/12 - 1
1-11861220-C-G c.473G>C p.G158A Missense 3/12 - 2
1-11861220-C-T c.473G>A p.G158E Missense 3/12 - 4
1-11861221-C-A c.472G>T p.G158* Nonsense 3/12 - 1
1-11861222-CC-AT c.470_471delinsAT p.R157H Missense 3/12 - 1
1-11861223-C-A c.470G>T p.R157L Missense 3/12 - 1
1-11861223-C-T c.470G>A p.R157Q Missense 3/12 - 14
1-11861224-G-A c.469C>T p.R157W Missense 3/12 - 5
1-11861225-CAG-AAA c.466_468delinsTTT p.L156F Missense 3/12 - 1
1-11861225-C-T c.468G>A p.L156= Synonymous 3/12 - 1
1-11861226-A-G c.467T>C p.L156P Missense 3/12 - 1
1-11861228-C-A c.465G>T p.A155= Synonymous 3/12 - 2
1-11861228-C-G c.465G>C p.A155= Synonymous 3/12 - 1
1-11861228-C-T c.465G>A p.A155= Synonymous 3/12 - 3
1-11861229-G-T c.464C>A p.A155E Missense 3/12 - 1
1-11861234-G-A c.459C>T p.I153= Synonymous 3/12 - 1
1-11861234-G-C c.459C>G p.I153M Missense 3/12 - 4
1-11861235-A-G c.458T>C p.I153T Missense 3/12 - 1
1-11861236-T-C c.457A>G p.I153V Missense 3/12 - 1
1-11861238-T-C c.455A>G p.N152S Missense 3/12 - 1
1-11861240-C-G c.453G>C p.K151N Missense 3/12 - 1
1-11861241-T-G c.452A>C p.K151T Missense 3/12 - 1
1-11861244-A-G c.449T>C p.L150P Missense 3/12 - 2
1-11861247-C-A c.446G>T p.G149V Missense 3/12 - 3
1-11861248-C-G c.445G>C p.G149R Missense 3/12 - 1
1-11861250-A-C c.443T>G p.L148R Missense 3/12 - 1
1-11861253-T-G c.440A>C p.Q147P Missense 3/12 - 5
1-11861256-T-C c.437A>G p.K146R Missense 3/12 - 1
1-11861267-C-A c.426G>T p.L142= Synonymous 3/12 - 1
1-11861267-C-T c.426G>A p.L142= Synonymous 3/12 - 1
1-11861268-A-C c.425T>G p.L142R Missense 3/12 - 1
1-11861268-A-G c.425T>C p.L142P Missense 3/12 - 2
1-11861268-A-T c.425T>A p.L142Q Missense 3/12 - 1
1-11861269-G-A c.424C>T p.L142= Synonymous 3/12 - 1
1-11861269-G-T c.424C>A p.L142M Missense 3/12 - 1
1-11861274-C-A c.419G>T p.G140V Missense 3/12 - 1
1-11861276-C-A c.417G>T p.T139= Synonymous 3/12 - 4
1-11861276-C-G c.417G>C p.T139= Synonymous 3/12 - 4
1-11861276-C-T c.417G>A p.T139= Synonymous 3/12 - 2
1-11861277-G-A c.416C>T p.T139M Missense 3/12 - 3
1-11861279-G-A c.414C>T p.I138= Synonymous 3/12 - 1
1-11861283-T-C c.410A>G p.E137G Missense 3/12 - 1
1-11861284-C-A c.409G>T p.E137* Nonsense 3/12 - 1
1-11861286-T-A c.407A>T p.E136V Missense 3/12 - 1
1-11861287-C-T c.406G>A p.E136K Missense 3/12 - 3
1-11861289-A-C c.404T>G p.L135R Missense 3/12 - 1
1-11861289-A-T c.404T>A p.L135Q Missense 3/12 - 1
1-11861291-GCG-CTT c.400_402delinsAAG p.R134K Missense 3/12 - 18
1-11861291-GC-TT c.401_402delinsAA p.R134Q Missense 3/12 - 2
1-11861292-C-A c.401G>T p.R134L Missense 3/12 - 2
1-11861292-C-CT c.400_401insA p.R134Qfs*13 Frameshift 3/12 - 1
1-11861292-C-G c.401G>C p.R134P Missense 3/12 - 1
1-11861292-C-T c.401G>A p.R134H Missense 3/12 - 4
1-11861293-G-A c.400C>T p.R134C Missense 3/12 - 5
1-11861297-ACG-CCA c.394_396delinsTGG p.R132W Missense 3/12 - 1
1-11861298-C-G c.395G>C p.R132P Missense 3/12 - 1
1-11861298-C-T c.395G>A p.R132H Missense 3/12 - 3
1-11861299-G-A c.394C>T p.R132C Missense 3/12 - 2
1-11861305-A-G c.388T>C p.C130R Missense 3/12 - 3
1-11861307-G-T c.386C>A p.T129N Missense 3/12 - 2
1-11861307-GT-CA c.385_386delinsTG p.T129C Missense 3/12 - 1
1-11861309-C-T c.384G>A p.M128I Missense 3/12 - 1
1-11861310-A-G c.383T>C p.M128T Missense 3/12 - 1
1-11861311-T-C c.382A>G p.M128V Missense 3/12 - 1
1-11861314-G-A c.379C>T p.H127Y Missense 3/12 - 5
1-11861323-T-C c.370A>G p.T124A Missense 3/12 - 1
1-11861324-C-A c.369G>T p.E123D Missense 3/12 - 1
1-11861325-T-C c.368A>G p.E123G Missense 3/12 - 1
1-11861326-C-T c.367G>A p.E123K Missense 3/12 - 2
1-11861327-CCAGGCCACAGTAGTTCACGGCGGTGCTGGCGATCATCATGGAGGAGGTCTCCTTGTCTG-C c.308_366del p.S103* InFrameDeletion 3/12 - 1
1-11861331-C-G c.362G>C p.G121A Missense 3/12 - 1
1-11861332-C-A c.361G>T p.G121C Missense 3/12 - 1
1-11861332-C-T c.361G>A p.G121S Missense 3/12 - 1
1-11861333-A-G c.360T>C p.C120= Synonymous 3/12 - 1
1-11861334-C-G c.359G>C p.C120S Missense 3/12 - 1
1-11861334-C-T c.359G>A p.C120Y Missense 3/12 - 2
1-11861339-G-A c.354C>T p.N118= Synonymous 3/12 - 4
1-11861341-T-A c.352A>T p.N118Y Missense 3/12 - 1
1-11861342-C-A c.351G>T p.V117= Synonymous 3/12 - 1
1-11861342-C-G c.351G>C p.V117= Synonymous 3/12 - 1
1-11861342-C-T c.351G>A p.V117= Synonymous 3/12 - 1
1-11861344-C-T c.349G>A p.V117M Missense 3/12 - 1
1-11861345-G-A c.348C>T p.A116= Synonymous 3/12 - 1
1-11861345-G-C c.348C>G p.A116= Synonymous 3/12 - 1
1-11861345-G-T c.348C>A p.A116= Synonymous 3/12 - 1
1-11861346-GC-CA c.346_347delinsTG p.A116C Missense 3/12 - 1
1-11861347-C-G c.346G>C p.A116P Missense 3/12 - 1
1-11861347-C-T c.346G>A p.A116T Missense 3/12 - 5
1-11861348-G-A c.345C>T p.T115= Synonymous 3/12 - 2
1-11861348-G-C c.345C>G p.T115= Synonymous 3/12 - 1
1-11861348-G-T c.345C>A p.T115= Synonymous 3/12 - 2
1-11861352-C-T c.341G>A p.S114N Missense 3/12 - 1
1-11861356-C-A c.337G>T p.A113S Missense 3/12 - 1
1-11861356-C-T c.337G>A p.A113T Missense 3/12 - 8
1-11861359-T-C c.334A>G p.I112V Missense 3/12 - 1
1-11861360-C-A c.333G>T p.M111I Missense 3/12 - 2
1-11861360-C-G c.333G>C p.M111I Missense 3/12 - 3
1-11861360-C-T c.333G>A p.M111I Missense 3/12 - 5
1-11861363-C-A c.330G>T p.M110I Missense 3/12 - 3
1-11861363-C-G c.330G>C p.M110I Missense 3/12 - 6
1-11861363-C-T c.330G>A p.M110I Missense 3/12 - 3
1-11861364-A-G c.329T>C p.M110T Missense 3/12 - 1
1-11861367-G-A c.326C>T p.S109F Missense 3/12 - 1
1-11861368-A-C c.325T>G p.S109A Missense 3/12 - 1
1-11861370-G-A c.323C>T p.S108F Missense 3/12 - 4
1-11861370-GA-TT c.322_323delinsAA p.S108N Missense 3/12 - 1
1-11861371-A-T c.322T>A p.S108T Missense 3/12 - 1
1-11861373-G-A c.320C>T p.T107I Missense 3/12 - 1
1-11861375-C-T c.318G>A p.E106= Synonymous 3/12 - 1
1-11861377-C-A c.316G>T p.E106* Nonsense 3/12 - 2
1-11861379-T-C c.314A>G p.K105R Missense 3/12 - 1
1-11861383-C-A c.310G>T p.D104Y Missense 3/12 - 1
1-11861385-G-A c.308C>T p.S103L Missense 3/12 - 2
1-11861385-GA-CC c.307_308delinsGG p.S103G Missense 3/12 - 1
1-11861389-C-A c.304G>T p.G102C Missense 3/12 - 1
1-11861389-C-T c.304G>A p.G102S Missense 3/12 - 1
1-11861391-G-A c.302C>T p.P101L Missense 3/12 - 1
1-11861395-C-T c.298G>A p.D100N Missense 3/12 - 1
1-11861398-C-T c.295G>A p.G99S Missense 3/12 - 1
1-11861401-C-T c.292G>A p.A98T Missense 3/12 - 1
1-11861411-G-A c.282C>T p.T94= Synonymous 3/12 - 1
1-11861411-G-C c.282C>G p.T94= Synonymous 3/12 - 1
1-11861411-G-T c.282C>A p.T94= Synonymous 3/12 - 1
1-11861412-GT-CA c.280_281delinsTG p.T94C Missense 3/12 - 1
1-11861415-A-C c.278T>G p.V93G Missense 3/12 - 1
1-11861416-C-A c.277G>T p.V93L Missense 3/12 - 1
1-11861416-C-G c.277G>C p.V93L Missense 3/12 - 1
1-11861416-C-T c.277G>A p.V93M Missense 3/12 - 1
1-11861417-G-A c.276C>T p.D92= Synonymous 3/12 - 2
1-11861426-G-C c.267C>G p.L89= Synonymous 3/12 - 1
1-11861429-G-A c.264C>T p.P88= Synonymous 3/12 - 4
1-11861429-G-C c.264C>G p.P88= Synonymous 3/12 - 1
1-11861429-G-T c.264C>A p.P88= Synonymous 3/12 - 1
1-11861430-G-A c.263C>T p.P88L Missense 3/12 - 1
1-11861433-C-G c.260G>C p.G87A Missense 3/12 - 1
1-11861433-C-T c.260G>A p.G87D Missense 3/12 - 2
1-11861436-C-T c.257G>A p.G86D Missense 3/12 - 1
1-11861439-G-C c.254C>G p.A85G Missense 3/12 - 1
1-11861441-TGC-ACA c.250_252delinsTGT p.A84C Missense 3/12 - 1
1-11861442-G-T c.251C>A p.A84E Missense 3/12 - 1
1-11861443-C-T c.250G>A p.A84T Missense 3/12 - 1
1-11861444-C-A c.249G>T p.M83I Missense 3/12 - 2
1-11861444-C-G c.249G>C p.M83I Missense 3/12 - 2
1-11861444-C-T c.249G>A p.M83I Missense 3/12 - 2
1-11861445-A-C c.248T>G p.M83R Missense 3/12 - 1
1-11861445-A-G c.248T>C p.M83T Missense 3/12 - 1
1-11861445-A-T c.248T>A p.M83K Missense 3/12 - 1
1-11861448-C-G c.245G>C p.R82P Missense 3/12 - 1
1-11861448-C-T c.245G>A p.R82Q Missense 3/12 - 2
1-11861447-C-A c.246G>T p.R82= Synonymous 3/12 - 3
1-11861447-C-G c.246G>C p.R82= Synonymous 3/12 - 3
1-11861447-C-T c.246G>A p.R82= Synonymous 3/12 - 3
1-11861449-G-A c.244C>T p.R82W Missense 3/12 - 5
1-11861449-G-T c.244C>A p.R82= Synonymous 3/12 - 3
1-11861450-G-C c.243C>G p.D81E Missense 3/12 - 1
1-11861453-A-C c.240T>G p.F80L Missense 3/12 - 1
1-11861855-A-G c.237-399T>C - IntronicSNV - 2/11 1
1-11862047-C-A c.237-591G>T - IntronicSNV - 2/11 9
1-11862047-C-T c.237-591G>A - IntronicSNV - 2/11 9
1-11862163-C-A c.237-707G>T - IntronicSNV - 2/11 8
1-11862214-T-C c.236+724A>G - IntronicSNV - 2/11 41
1-11862331-G-A c.236+607C>T - IntronicSNV - 2/11 1
1-11862332-C-T c.236+606G>A - IntronicSNV - 2/11 8
1-11862764-C-CT c.236+173dup - IntronicInsertion - 2/11 1
1-11862778-A-G c.236+160T>C - IntronicSNV - 2/11 84
1-11862929-T-G c.236+9A>C - IntronicSNV - 2/11 1
1-11862935-T-C c.236+3A>G - IntronicSNV - 2/11 3
1-11862937-C-T c.236+1G>A - IntronicSNV - 2/11 1
1-11862938-C-T c.236G>A p.R79K Missense 2/12 - 1
1-11862941-G-C c.233C>G p.S78* Nonsense 2/12 - 2
1-11862941-G-T c.233C>A p.S78* Nonsense 2/12 - 1
1-11862941-G-GA c.232dup p.S78Ffs*4 Frameshift 2/12 - 1
1-11862945-T-G c.229A>C p.I77L Missense 2/12 - 2
1-11862955-A-C c.219T>G p.A73= Synonymous 2/12 - 1
1-11862955-A-G c.219T>C p.A73= Synonymous 2/12 - 1
1-11862955-A-T c.219T>A p.A73= Synonymous 2/12 - 1
1-11862957-C-T c.217G>A p.A73T Missense 2/12 - 1
1-11862958-TCC-ACA c.214_216delinsTGT p.G72C Missense 2/12 - 1
1-11862959-C-G c.215G>C p.G72A Missense 2/12 - 3
1-11862959-C-T c.215G>A p.G72E Missense 2/12 - 2
1-11862961-C-T c.213G>A p.E71= Synonymous 2/12 - 1
1-11862963-C-G c.211G>C p.E71Q Missense 2/12 - 1
1-11862964-A-C c.210T>G p.A70= Synonymous 2/12 - 1
1-11862964-A-G c.210T>C p.A70= Synonymous 2/12 - 1
1-11862964-A-T c.210T>A p.A70= Synonymous 2/12 - 1
1-11862965-GC-AA c.208_209delinsTT p.A70F Missense 2/12 - 1
1-11862965-G-T c.209C>A p.A70D Missense 2/12 - 2
1-11862966-C-T c.208G>A p.A70T Missense 2/12 - 1
1-11862968-G-A c.206C>T p.T69I Missense 2/12 - 1
1-11862968-G-T c.206C>A p.T69N Missense 2/12 - 4
1-11862969-T-C c.205A>G p.T69A Missense 2/12 - 2
1-11862971-C-A c.203G>T p.R68L Missense 2/12 - 1
1-11862971-C-T c.203G>A p.R68Q Missense 2/12 - 10
1-11862972-G-A c.202C>T p.R68* Nonsense 2/12 - 3
1-11862972-G-C c.202C>G p.R68G Missense 2/12 - 3
1-11862975-G-A c.199C>T p.P67S Missense 2/12 - 3
1-11862977-G-A c.197C>T p.P66L Missense 2/12 - 2
1-11862979-G-C c.195C>G p.F65L Missense 2/12 - 2
1-11862979-G-T c.195C>A p.F65L Missense 2/12 - 2
1-11862981-A-G c.193T>C p.F65L Missense 2/12 - 2
1-11862985-T-C c.189A>G p.E63= Synonymous 2/12 - 1
1-11862987-C-T c.187G>A p.E63K Missense 2/12 - 1
1-11862991-G-A c.183C>T p.S61= Synonymous 2/12 - 1
1-11862991-G-C c.183C>G p.S61= Synonymous 2/12 - 1
1-11862991-G-T c.183C>A p.S61= Synonymous 2/12 - 1
1-11862994-G-A c.180C>T p.F60= Synonymous 2/12 - 1
1-11862994-G-C c.180C>G p.F60L Missense 2/12 - 1
1-11862994-G-T c.180C>A p.F60L Missense 2/12 - 1
1-11862996-A-G c.178T>C p.F60L Missense 2/12 - 1
1-11862997-C-A c.177G>T p.W59C Missense 2/12 - 3
1-11862997-C-G c.177G>C p.W59C Missense 2/12 - 1
1-11862998-C-G c.176G>C p.W59S Missense 2/12 - 6
1-11862999-A-G c.175T>C p.W59R Missense 2/12 - 1
1-11863002-T-G c.172A>C p.K58Q Missense 2/12 - 1
1-11863007-C-G c.167G>C p.G56A Missense 2/12 - 1
1-11863007-C-T c.167G>A p.G56D Missense 2/12 - 1
1-11863009-A-C c.165T>G p.S55= Synonymous 2/12 - 1
1-11863010-GA-AG c.163_164delinsCT p.S55L Missense 2/12 - 1
1-11863014-C-G c.160G>C p.E54Q Missense 2/12 - 1
1-11863014-C-T c.160G>A p.E54K Missense 2/12 - 1
1-11863018-TC-AT c.155_156delinsAT p.R52H Missense 2/12 - 1
1-11863018-TCG-ACA c.154_156delinsTGT p.R52C Missense 2/12 - 1
1-11863019-C-T c.155G>A p.R52Q Missense 2/12 - 8
1-11863020-G-A c.154C>T p.R52* Nonsense 2/12 - 2
1-11863022-C-A c.152G>T p.R51L Missense 2/12 - 2
1-11863022-C-G c.152G>C p.R51P Missense 2/12 - 5
1-11863022-CG-TA c.151_152delinsTA p.R51* Nonsense 2/12 - 1
1-11863022-C-T c.152G>A p.R51Q Missense 2/12 - 9
1-11863023-G-A c.151C>T p.R51W Missense 2/12 - 1
1-11863024-CCT-ACA c.148_150delinsTGT p.R50C Missense 2/12 - 1
1-11863025-CT-TA c.148_149delinsTA p.R50* Nonsense 2/12 - 1
1-11863029-T-C c.145A>G p.M49V Missense 2/12 - 2
1-11863030-C-A c.144G>T p.K48N Missense 2/12 - 1
1-11863036-C-A c.138G>T p.R46= Synonymous 2/12 - 1
1-11863037-C-G c.137G>C p.R46P Missense 2/12 - 1
1-11863037-C-T c.137G>A p.R46Q Missense 2/12 - 11
1-11863038-G-A c.136C>T p.R46W Missense 2/12 - 18
1-11863040-AG-GC c.133_134delinsGC p.L45A Missense 2/12 - 1
1-11863044-T-A c.130A>T p.R44* Nonsense 2/12 - 2
1-11863045-C-G c.129G>C p.E43D Missense 2/12 - 2
1-11863052-C-T c.122G>A p.R41Q Missense 2/12 - 4
1-11863051-C-A c.123G>T p.R41= Synonymous 2/12 - 1
1-11863051-C-G c.123G>C p.R41= Synonymous 2/12 - 1
1-11863051-C-T c.123G>A p.R41= Synonymous 2/12 - 1
1-11863053-G-A c.121C>T p.R41W Missense 2/12 - 1
1-11863053-G-T c.121C>A p.R41= Synonymous 2/12 - 1
1-11863055-T-G c.119A>C p.E40A Missense 2/12 - 1
1-11863056-C-T c.118G>A p.E40K Missense 2/12 - 3
1-11863057-G-A c.117C>T p.P39= Synonymous 2/12 - 38
1-11863057-G-C c.117C>G p.P39= Synonymous 2/12 - 38
1-11863057-G-T c.117C>A p.P39= Synonymous 2/12 - 2
1-11863059-G-A c.115C>T p.P39S Missense 2/12 - 2
1-11863062-C-A c.112G>T p.D38Y Missense 2/12 - 1
1-11863062-C-G c.112G>C p.D38H Missense 2/12 - 1
1-11863062-C-T c.112G>A p.D38N Missense 2/12 - 1
1-11863063-CAG-AAA c.109_111delinsTTT p.L37F Missense 2/12 - 1
1-11863064-AG-GC c.109_110delinsGC p.L37A Missense 2/12 - 1
1-11863067-C-G c.107G>C p.G36A Missense 2/12 - 1
1-11863070-GG-CC c.103_104inv p.P35G Missense 2/12 - 1
1-11863071-G-C c.103C>G p.P35A Missense 2/12 - 1
1-11863072-G-A c.102C>T p.T34= Synonymous 2/12 - 1
1-11863073-G-A c.101C>T p.T34I Missense 2/12 - 1
1-11863073-GT-CA c.100_101delinsTG p.T34C Missense 2/12 - 2
1-11863074-T-C c.100A>G p.T34A Missense 2/12 - 5
1-11863078-A-G c.96T>C p.C32= Synonymous 2/12 - 1
1-11863079-CA-GT c.94_95delinsAC p.C32T Missense 2/12 - 1
1-11863080-A-G c.94T>C p.C32R Missense 2/12 - 1
1-11863082-CT-GC c.91_92delinsGC p.R31A Missense 2/12 - 1
1-11863082-CT-TG c.91_92delinsCA p.R31Q Missense 2/12 - 1
1-11863083-T-C c.91A>G p.R31G Missense 2/12 - 1
1-11863084-CG-AA c.89_90delinsTT p.S30F Missense 2/12 - 1
1-11863084-C-T c.90G>A p.S30= Synonymous 2/12 - 1
1-11863085-G-A c.89C>T p.S30L Missense 2/12 - 1
1-11863086-A-C c.88T>G p.S30A Missense 2/12 - 1
1-11863089-T-C c.85A>G p.S29G Missense 2/12 - 1
1-11863090-ATC-CTT c.82_84delinsAAG p.D28K Missense 2/12 - 4
1-11863092-C-G c.82G>C p.D28H Missense 2/12 - 1
1-11863092-C-T c.82G>A p.D28N Missense 2/12 - 1
1-11863093-TT-CA c.80_81delinsTG p.K27M Missense 2/12 - 1
1-11863094-T-C c.80A>G p.K27R Missense 2/12 - 3
1-11863095-T-G c.79A>C p.K27Q Missense 2/12 - 1
1-11863098-A-C c.76T>G p.S26A Missense 2/12 - 1
1-11863102-C-A c.72G>T p.E24D Missense 2/12 - 1
1-11863102-C-G c.72G>C p.E24D Missense 2/12 - 1
1-11863103-T-C c.71A>G p.E24G Missense 2/12 - 1
1-11863104-C-T c.70G>A p.E24K Missense 2/12 - 1
1-11863105-A-T c.69T>A p.S23R Missense 2/12 - 1
1-11863106-C-A c.68G>T p.S23I Missense 2/12 - 1
1-11863106-C-T c.68G>A p.S23N Missense 2/12 - 1
1-11863106-CT-AG c.67_68inv p.S23L Missense 2/12 - 2
1-11863107-T-A c.67A>T p.S23C Missense 2/12 - 1
1-11863109-C-G c.65G>C p.G22A Missense 2/12 - 1
1-11863112-C-T c.62G>A p.S21N Missense 2/12 - 2
1-11863112-CT-AA c.61_62delinsTT p.S21F Missense 2/12 - 1
1-11863112-CT-GC c.61_62delinsGC p.S21A Missense 2/12 - 1
1-11863114-G-A c.60C>T p.S20= Synonymous 2/12 - 2
1-11863115-CT-GC c.58_59delinsGC p.S20A Missense 2/12 - 1
1-11863117-G-A c.57C>T p.A19= Synonymous 2/12 - 2
1-11863117-G-C c.57C>G p.A19= Synonymous 2/12 - 2
1-11863117-GG-CT c.56_57delinsAG p.A19E Missense 2/12 - 1
1-11863117-G-T c.57C>A p.A19= Synonymous 2/12 - 2
1-11863118-G-C c.56C>G p.A19G Missense 2/12 - 2
1-11863118-GC-AA c.55_56delinsTT p.A19F Missense 2/12 - 1
1-11863118-GC-TG c.55_56delinsCA p.A19H Missense 2/12 - 1
1-11863118-G-T c.56C>A p.A19D Missense 2/12 - 2
1-11863119-C-G c.55G>C p.A19P Missense 2/12 - 1
1-11863121-C-T c.53G>A p.S18N Missense 2/12 - 1
1-11863121-CT-GC c.52_53delinsGC p.S18A Missense 2/12 - 1
1-11863121-CT-TA c.52_53delinsTA p.S18Y Missense 2/12 - 2
1-11863125-C-T c.49G>A p.G17S Missense 2/12 - 1
1-11863128-C-G c.46G>C p.E16Q Missense 2/12 - 1
1-11863132-G-A c.42C>T p.C14= Synonymous 2/12 - 1
1-11863133-C-CA c.40dup p.C14Lfs*11 Frameshift 2/12 - 1
1-11863135-GGG-CTT c.37_39delinsAAG p.P13K Missense 2/12 - 2
1-11863136-G-A c.38C>T p.P13L Missense 2/12 - 1
1-11863136-GG-AA c.37_38delinsTT p.P13F Missense 2/12 - 1
1-11863136-G-T c.38C>A p.P13H Missense 2/12 - 1
1-11863138-G-C c.36C>G p.N12K Missense 2/12 - 1
1-11863138-G-T c.36C>A p.N12K Missense 2/12 - 1
1-11863140-T-A c.34A>T p.N12Y Missense 2/12 - 1
1-11863143-G-A c.31C>T p.L11F Missense 2/12 - 1
1-11863144-GCT-CTC c.28_30delinsGAG p.S10E Missense 2/12 - 1
1-11863145-C-A c.29G>T p.S10I Missense 2/12 - 1
1-11863145-CT-GC c.28_29delinsGC p.S10A Missense 2/12 - 12
1-11863145-CT-GG c.28_29delinsCC p.S10P Missense 2/12 - 1
1-11863145-CT-TC c.28_29delinsGA p.S10D Missense 2/12 - 1
1-11863145-CT-TG c.28_29delinsCA p.S10H Missense 2/12 - 1
1-11863146-T-A c.28A>T p.S10C Missense 2/12 - 3
1-11863146-T-C c.28A>G p.S10G Missense 2/12 - 1
1-11863149-T-C c.25A>G p.S9G Missense 2/12 - 1
1-11863150-G-C c.24C>G p.N8K Missense 2/12 - 1
1-11863153-TC-T c.20del p.G7Efs*43 Frameshift 2/12 - 1
1-11863155-C-T c.19G>A p.G7R Missense 2/12 - 1
1-11863157-C-G c.17G>C p.R6T Missense 2/12 - 3
1-11863158-T-A c.16A>T p.R6* Nonsense 2/12 - 1
1-11863158-T-C c.16A>G p.R6G Missense 2/12 - 2
1-11863159-G-T c.15C>A p.A5= Synonymous 2/12 - 1
1-11863161-C-A c.13G>T p.A5S Missense 2/12 - 1
1-11863164-C-G c.10G>C p.E4Q Missense 2/12 - 1
1-11863164-C-T c.10G>A p.E4K Missense 2/12 - 1
1-11863167-T-A c.7A>T p.N3Y Missense 2/12 - 1
1-11863170-C-A c.4G>T p.V2L Missense 2/12 - 1
1-11863170-C-G c.4G>C p.V2L Missense 2/12 - 1
1-11863171-C-G c.3G>C p.M1? Missense 2/12 - 1
1-11863173-T-C c.1A>G p.M1? Missense 2/12 - 1
1-11863195-G-A c.-13-9C>T - IntronicSNV - 1/11 1
1-11863271-G-A c.-13-85C>T - IntronicSNV - 1/11 1
1-11863271-G-T c.-13-85C>A - IntronicSNV - 1/11 1
1-11863277-G-A c.-13-91C>T - IntronicSNV - 1/11 1
1-11863463-T-A c.-13-277A>T - IntronicSNV - 1/11 1
1-11863475-G-A c.-13-289C>T - IntronicSNV - 1/11 1
1-11863475-G-T c.-13-289C>A - IntronicSNV - 1/11 1
1-11863483-G-A c.-13-297C>T - IntronicSNV - 1/11 1
1-11863483-G-C c.-13-297C>G - IntronicSNV - 1/11 1
1-11863485-C-A c.-13-299G>T - IntronicSNV - 1/11 1
1-11863490-C-T c.-13-304G>A - IntronicSNV - 1/11 1
1-11863496-C-T c.-13-310G>A - IntronicSNV - 1/11 1
1-11863499-C-A c.-13-313G>T - IntronicSNV - 1/11 1
1-11863499-C-T c.-13-313G>A - IntronicSNV - 1/11 1
1-11863501-T-C c.-13-315A>G - IntronicSNV - 1/11 1
1-11863504-G-A c.-13-318C>T - IntronicSNV - 1/11 1
1-11863522-G-A c.-13-336C>T - IntronicSNV - 1/11 1
1-11863556-C-A c.-13-370G>T - IntronicSNV - 1/11 1
1-11863556-C-T c.-13-370G>A - IntronicSNV - 1/11 1
1-11863566-G-A c.-13-380C>T - IntronicSNV - 1/11 3
1-11863566-G-T c.-13-380C>A - IntronicSNV - 1/11 3
1-11863589-C-T c.-13-403G>A - IntronicSNV - 1/11 1
1-11863597-G-A c.-13-411C>T - IntronicSNV - 1/11 1
1-11863597-G-C c.-13-411C>G - IntronicSNV - 1/11 1
1-11863597-G-T c.-13-411C>A - IntronicSNV - 1/11 1
1-11863604-G-A c.-13-418C>T - IntronicSNV - 1/11 1
1-11863606-G-A c.-13-420C>T - IntronicSNV - 1/11 1
1-11863608-A-C c.-13-422T>G - IntronicSNV - 1/11 1
1-11863904-C-T c.-13-718G>A - IntronicSNV - 1/11 4
1-11863974-C-A c.-13-788G>T - IntronicSNV - 1/11 3
1-11863974-C-T c.-13-788G>A - IntronicSNV - 1/11 3
1-11864149-G-A c.-13-963C>T - IntronicSNV - 1/11 5
1-11864168-T-A c.-13-982A>T - IntronicSNV - 1/11 1
1-11864168-T-C c.-13-982A>G - IntronicSNV - 1/11 1
1-11864262-T-C c.-13-1076A>G - IntronicSNV - 1/11 2
1-11864378-G-A c.-13-1192C>T - IntronicSNV - 1/11 2
1-11864586-T-C c.-14+1359A>G - intron_variant - 1/11 13
1-11865236-C-T c.-14+709G>A - intron_variant - 1/11 3
1-11865542-A-C c.-14+403T>G - intron_variant - 1/11 8
1-11865804-A-G c.-14+141T>C - intron_variant - 1/11 18
1-11865817-C-A c.-14+128G>T - intron_variant - 1/11 1
1-11865817-C-T c.-14+128G>A - intron_variant - 1/11 1