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 |