4-89011422-A-G |
c.*1964T>C |
- |
3-UTRSNV |
16/16 |
- |
2 |
4-89011437-T-C |
c.*1949A>G |
- |
3-UTRSNV |
16/16 |
- |
1 |
4-89011660-C-T |
c.*1726G>A |
- |
3-UTRSNV |
16/16 |
- |
3 |
4-89012320-A-G |
c.*1066T>C |
- |
3-UTRSNV |
16/16 |
- |
5 |
4-89013022-T-TA |
c.*363_*364insT |
- |
3-UTRInsertion |
16/16 |
- |
1 |
4-89013360-T-C |
c.*26A>G |
- |
3-UTRSNV |
16/16 |
- |
1 |
4-89013367-T-C |
c.*19A>G |
- |
3-UTRSNV |
16/16 |
- |
1 |
4-89013371-G-A |
c.*15C>T |
- |
3-UTRSNV |
16/16 |
- |
1 |
4-89013388-A-G |
c.1966T>C |
p.*656Qext*4 |
Missense |
16/16 |
- |
1 |
4-89013390-G-A |
c.1964C>T |
p.S655F |
Missense |
16/16 |
- |
1 |
4-89013392-ATA-CTC |
c.1960_1962delinsGAG |
p.Y654E |
Missense |
16/16 |
- |
1 |
4-89013393-T-C |
c.1961A>G |
p.Y654C |
Missense |
16/16 |
- |
1 |
4-89013397-T-C |
c.1957A>G |
p.K653E |
Missense |
16/16 |
- |
6 |
4-89013394-A-AT |
c.1959dup |
p.Y654Ifs*21 |
Frameshift |
16/16 |
- |
2 |
4-89013394-AT-A |
c.1959del |
p.K653Nfs*11 |
Frameshift |
16/16 |
- |
4 |
4-89013400-T-C |
c.1954A>G |
p.K652E |
Missense |
16/16 |
- |
1 |
4-89013401-89013402---AGAAATAACAATTTCAGGTAGGC |
c.1930_1952dup |
p.K652Pfs*3 |
stop_gained,frameshift_variant |
16/16 |
- |
1 |
4-89013402-A-G |
c.1952T>C |
p.L651P |
Missense |
16/16 |
- |
2 |
4-89013403-G-A |
c.1951C>T |
p.L651F |
Missense |
16/16 |
- |
1 |
4-89013406-A-G |
c.1948T>C |
p.F650L |
Missense |
16/16 |
- |
1 |
4-89013408-A-G |
c.1946T>C |
p.L649S |
Missense |
16/16 |
- |
1 |
4-89013410-C-A |
c.1944G>T |
p.L648F |
Missense |
16/16 |
- |
3 |
4-89013410-C-G |
c.1944G>C |
p.L648F |
Missense |
16/16 |
- |
2 |
4-89013412-A-G |
c.1942T>C |
p.L648= |
Synonymous |
16/16 |
- |
1 |
4-89013415-T-C |
c.1939A>G |
p.K647E |
Missense |
16/16 |
- |
1 |
4-89013418-G-A |
c.1936C>T |
p.L646= |
Synonymous |
16/16 |
- |
1 |
4-89013418-G-T |
c.1936C>A |
p.L646M |
Missense |
16/16 |
- |
1 |
4-89013420-T-A |
c.1934A>T |
p.Y645F |
Missense |
16/16 |
- |
1 |
4-89013420-T-C |
c.1934A>G |
p.Y645C |
Missense |
16/16 |
- |
2 |
4-89013420-T-G |
c.1934A>C |
p.Y645S |
Missense |
16/16 |
- |
1 |
4-89013424-C-T |
c.1930G>A |
p.A644T |
Missense |
16/16 |
- |
3 |
4-89013426-AT-GC |
c.1927_1928delinsGC |
p.I643A |
Missense |
16/16 |
- |
1 |
4-89013427-T-C |
c.1927A>G |
p.I643V |
Missense |
16/16 |
- |
2 |
4-89013429-G-A |
c.1925C>T |
p.T642I |
Missense |
16/16 |
- |
1 |
4-89013429-G-T |
c.1925C>A |
p.T642K |
Missense |
16/16 |
- |
1 |
4-89013430-T-C |
c.1924A>G |
p.T642A |
Missense |
16/16 |
- |
1 |
4-89013431-G-A |
c.1923C>T |
p.L641= |
Synonymous |
16/16 |
- |
4 |
4-89013431-G-C |
c.1923C>G |
p.L641= |
Synonymous |
16/16 |
- |
1 |
4-89013431-G-T |
c.1923C>A |
p.L641= |
Synonymous |
16/16 |
- |
2 |
4-89013433-G-A |
c.1921C>T |
p.L641F |
Missense |
16/16 |
- |
3 |
4-89013435-AA-GC |
c.1918_1919delinsGC |
p.F640A |
Missense |
16/16 |
- |
2 |
4-89013438-A-G |
c.1916T>C |
p.I639T |
Missense |
16/16 |
- |
1 |
4-89013439-T-C |
c.1915A>G |
p.I639V |
Missense |
16/16 |
- |
1 |
4-89013440-A-C |
c.1914T>G |
p.V638= |
Synonymous |
16/16 |
- |
1 |
4-89013440-A-G |
c.1914T>C |
p.V638= |
Synonymous |
16/16 |
- |
1 |
4-89013440-A-T |
c.1914T>A |
p.V638= |
Synonymous |
16/16 |
- |
1 |
4-89013441-A-G |
c.1913T>C |
p.V638A |
Missense |
16/16 |
- |
2 |
4-89013445-T-G |
c.1909A>C |
p.I637L |
Missense |
16/16 |
- |
1 |
4-89013446-C-T |
c.1908G>A |
p.M636I |
Missense |
16/16 |
- |
2 |
4-89013447-AT-GC |
c.1906_1907delinsGC |
p.M636A |
Missense |
16/16 |
- |
1 |
4-89013450-CA-GC |
c.1903_1904delinsGC |
p.C635A |
Missense |
16/16 |
- |
1 |
4-89013451-A-C |
c.1903T>G |
p.C635G |
Missense |
16/16 |
- |
1 |
4-89013452-A-C |
c.1902T>G |
p.A634= |
Synonymous |
16/16 |
- |
1 |
4-89013452-A-G |
c.1902T>C |
p.A634= |
Synonymous |
16/16 |
- |
1 |
4-89013452-A-T |
c.1902T>A |
p.A634= |
Synonymous |
16/16 |
- |
1 |
4-89013453-G-A |
c.1901C>T |
p.A634V |
Missense |
16/16 |
- |
1 |
4-89013453-G-C |
c.1901C>G |
p.A634G |
Missense |
16/16 |
- |
1 |
4-89013453-G-T |
c.1901C>A |
p.A634D |
Missense |
16/16 |
- |
1 |
4-89013454-C-T |
c.1900G>A |
p.A634T |
Missense |
16/16 |
- |
2 |
4-89013456-AA-GC |
c.1897_1898delinsGC |
p.L633A |
Missense |
16/16 |
- |
1 |
4-89013459-G-A |
c.1895C>T |
p.A632V |
Missense |
16/16 |
- |
2 |
4-89013460-C-T |
c.1894G>A |
p.A632T |
Missense |
16/16 |
- |
4 |
4-89013463-C-T |
c.1891G>A |
p.V631M |
Missense |
16/16 |
- |
3 |
4-89013464-G-A |
c.1890C>T |
p.H630= |
Synonymous |
16/16 |
- |
1 |
4-89013464-G-C |
c.1890C>G |
p.H630Q |
Missense |
16/16 |
- |
2 |
4-89013464-G-T |
c.1890C>A |
p.H630Q |
Missense |
16/16 |
- |
2 |
4-89013464-GTG-CTC |
c.1888_1890delinsGAG |
p.H630E |
Missense |
16/16 |
- |
1 |
4-89013464-GTG-TTA |
c.1888_1890delinsTAA |
p.H630* |
Nonsense |
16/16 |
- |
1 |
4-89013467-A-T |
c.1887T>A |
p.N629K |
Missense |
16/16 |
- |
1 |
4-89013468-TT-GC |
c.1885_1886delinsGC |
p.N629A |
Missense |
16/16 |
- |
1 |
4-89013472-T-C |
c.1882A>G |
p.K628E |
Missense |
16/16 |
- |
1 |
4-89013473-C-T |
c.1881G>A |
p.W627* |
Nonsense |
16/16 |
- |
2 |
4-89013474-C-T |
c.1880G>A |
p.W627* |
Nonsense |
16/16 |
- |
2 |
4-89013480-C-T |
c.1874G>A |
p.G625D |
Missense |
16/16 |
- |
2 |
4-89013483-C-T |
c.1871G>A |
p.W624* |
Nonsense |
16/16 |
- |
1 |
4-89013487-G-C |
c.1867C>G |
p.P623A |
Missense |
16/16 |
- |
2 |
4-89013488-TG-AA |
c.1865_1866delinsTT |
p.S622F |
Missense |
16/16 |
- |
1 |
4-89013489-G-T |
c.1865C>A |
p.S622* |
Nonsense |
16/16 |
- |
1 |
4-89013494-A-C |
c.1860T>G |
p.D620E |
Missense |
16/16 |
- |
1 |
4-89013494-A-G |
c.1860T>C |
p.D620= |
Synonymous |
16/16 |
- |
1 |
4-89013494-A-T |
c.1860T>A |
p.D620E |
Missense |
16/16 |
- |
1 |
4-89013494-ATC-CTT |
c.1858_1860delinsAAG |
p.D620K |
Missense |
16/16 |
- |
1 |
4-89013495-T-C |
c.1859A>G |
p.D620G |
Missense |
16/16 |
- |
2 |
4-89013495-TC-CG |
c.1858_1859delinsCG |
p.D620R |
Missense |
16/16 |
- |
1 |
4-89013496-C-T |
c.1858G>A |
p.D620N |
Missense |
16/16 |
- |
37 |
4-89013497-G-A |
c.1857C>T |
p.I619= |
Synonymous |
16/16 |
- |
5 |
4-89013497-G-T |
c.1857C>A |
p.I619= |
Synonymous |
16/16 |
- |
4 |
4-89013501-C-T |
c.1853G>A |
p.G618D |
Missense |
16/16 |
- |
3 |
4-89013502-C-A |
c.1852G>T |
p.G618C |
Missense |
16/16 |
- |
1 |
4-89013502-C-T |
c.1852G>A |
p.G618S |
Missense |
16/16 |
- |
4 |
4-89013505-G-T |
c.1849C>A |
p.Q617K |
Missense |
16/16 |
- |
2 |
4-89013508-T-C |
c.1846A>G |
p.K616E |
Missense |
16/16 |
- |
1 |
4-89013511-C-G |
c.1843G>C |
p.V615L |
Missense |
16/16 |
- |
1 |
4-89013511-C-T |
c.1843G>A |
p.V615I |
Missense |
16/16 |
- |
1 |
4-89013512-C-T |
c.1842G>A |
p.L614= |
Synonymous |
16/16 |
- |
1 |
4-89013514-A-G |
c.1840T>C |
p.L614= |
Synonymous |
16/16 |
- |
1 |
4-89013516-T-C |
c.1838A>G |
p.Y613C |
Missense |
16/16 |
- |
1 |
4-89013518-T-A |
c.1836A>T |
p.E612D |
Missense |
16/16 |
- |
1 |
4-89013518-T-G |
c.1836A>C |
p.E612D |
Missense |
16/16 |
- |
1 |
4-89013520-C-A |
c.1834G>T |
p.E612* |
Nonsense |
16/16 |
- |
1 |
4-89013520-C-T |
c.1834G>A |
p.E612K |
Missense |
16/16 |
- |
1 |
4-89013521-T-A |
c.1833A>T |
p.E611D |
Missense |
16/16 |
- |
1 |
4-89013521-T-G |
c.1833A>C |
p.E611D |
Missense |
16/16 |
- |
1 |
4-89013523-C-T |
c.1831G>A |
p.E611K |
Missense |
16/16 |
- |
3 |
4-89013524-G-A |
c.1830C>T |
p.G610= |
Synonymous |
16/16 |
- |
2 |
4-89013524-G-T |
c.1830C>A |
p.G610= |
Synonymous |
16/16 |
- |
2 |
4-89013525-C-T |
c.1829G>A |
p.G610D |
Missense |
16/16 |
- |
1 |
4-89013528-G-A |
c.1826C>T |
p.T609I |
Missense |
16/16 |
- |
3 |
4-89013528-G-C |
c.1826C>G |
p.T609S |
Missense |
16/16 |
- |
1 |
4-89013529-T-A |
c.1825A>T |
p.T609S |
Missense |
16/16 |
- |
1 |
4-89013530-A-T |
c.1824T>A |
p.C608* |
Nonsense |
16/16 |
- |
1 |
4-89013531-CA-GC |
c.1822_1823delinsGC |
p.C608A |
Missense |
16/16 |
- |
3 |
4-89013531-CA-GT |
c.1822_1823delinsAC |
p.C608T |
Missense |
16/16 |
- |
1 |
4-89013531-C-T |
c.1823G>A |
p.C608Y |
Missense |
16/16 |
- |
1 |
4-89013531-C-G |
c.1823G>C |
p.C608S |
Missense |
16/16 |
- |
2 |
4-89013532-A-C |
c.1822T>G |
p.C608G |
Missense |
16/16 |
- |
2 |
4-89013532-A-G |
c.1822T>C |
p.C608R |
Missense |
16/16 |
- |
4 |
4-89013532-A-T |
c.1822T>A |
p.C608S |
Missense |
16/16 |
- |
2 |
4-89013578-G-A |
c.1821-45C>T |
- |
IntronicSNV |
- |
15/15 |
1 |
4-89013650-C-T |
c.1821-117G>A |
- |
IntronicSNV |
- |
15/15 |
1 |
4-89014529-A-G |
c.1821-996T>C |
- |
IntronicSNV |
- |
15/15 |
1 |
4-89014529-A-T |
c.1821-996T>A |
- |
IntronicSNV |
- |
15/15 |
1 |
4-89014786-T-C |
c.1820+943A>G |
- |
IntronicSNV |
- |
15/15 |
1 |
4-89015090-C-T |
c.1820+639G>A |
- |
IntronicSNV |
- |
15/15 |
2 |
4-89015163-A-T |
c.1820+566T>A |
- |
IntronicSNV |
- |
15/15 |
2 |
4-89015619-G-A |
c.1820+110C>T |
- |
IntronicSNV |
- |
15/15 |
4 |
4-89015728-C-A |
c.1820+1G>T |
- |
IntronicSNV |
- |
15/15 |
2 |
4-89015728-C-T |
c.1820+1G>A |
- |
IntronicSNV |
- |
15/15 |
4 |
4-89015729-G-A |
c.1820C>T |
p.T607I |
Missense |
15/16 |
- |
1 |
4-89015730-T-C |
c.1819A>G |
p.T607A |
Missense |
15/16 |
- |
1 |
4-89015735-TA-GC |
c.1813_1814delinsGC |
p.Y605A |
Missense |
15/16 |
- |
1 |
4-89015735-T-C |
c.1814A>G |
p.Y605C |
Missense |
15/16 |
- |
1 |
4-89015741-CA-GC |
c.1807_1808delinsGC |
p.C603A |
Missense |
15/16 |
- |
8 |
4-89015741-C-T |
c.1808G>A |
p.C603Y |
Missense |
15/16 |
- |
2 |
4-89015741-C-G |
c.1808G>C |
p.C603S |
Missense |
15/16 |
- |
4 |
4-89015742-A-T |
c.1807T>A |
p.C603S |
Missense |
15/16 |
- |
4 |
4-89015744-G-C |
c.1805C>G |
p.P602R |
Missense |
15/16 |
- |
1 |
4-89015747-T-C |
c.1802A>G |
p.N601S |
Missense |
15/16 |
- |
1 |
4-89015750-T-A |
c.1799A>T |
p.N600I |
Missense |
15/16 |
- |
1 |
4-89015750-T-C |
c.1799A>G |
p.N600S |
Missense |
15/16 |
- |
1 |
4-89015755-T-C |
c.1794A>G |
p.T598= |
Synonymous |
15/16 |
- |
1 |
4-89015757-T-C |
c.1792A>G |
p.T598A |
Missense |
15/16 |
- |
1 |
4-89015758-T-G |
c.1791A>C |
p.A597= |
Synonymous |
15/16 |
- |
1 |
4-89015759-G-C |
c.1790C>G |
p.A597G |
Missense |
15/16 |
- |
1 |
4-89015760-C-T |
c.1789G>A |
p.A597T |
Missense |
15/16 |
- |
1 |
4-89015761-ATT-TTG |
c.1786_1788delinsCAA |
p.N596Q |
Missense |
15/16 |
- |
5 |
4-89015762-T-C |
c.1787A>G |
p.N596S |
Missense |
15/16 |
- |
5 |
4-89015763-T-TG |
c.1785dup |
p.N596Qfs*9 |
Frameshift |
15/16 |
- |
1 |
4-89015766-G-A |
c.1783C>T |
p.L595F |
Missense |
15/16 |
- |
2 |
4-89015766-G-T |
c.1783C>A |
p.L595I |
Missense |
15/16 |
- |
1 |
4-89015768-C-A |
c.1781G>T |
p.G594V |
Missense |
15/16 |
- |
3 |
4-89015768-C-G |
c.1781G>C |
p.G594A |
Missense |
15/16 |
- |
1 |
4-89015768-C-T |
c.1781G>A |
p.G594E |
Missense |
15/16 |
- |
1 |
4-89015769-C-A |
c.1780G>T |
p.G594* |
Nonsense |
15/16 |
- |
2 |
4-89015772-G-A |
c.1777C>T |
p.P593S |
Missense |
15/16 |
- |
1 |
4-89015774-CA-GC |
c.1774_1775delinsGC |
p.C592A |
Missense |
15/16 |
- |
4 |
4-89015774-C-T |
c.1775G>A |
p.C592Y |
Missense |
15/16 |
- |
6 |
4-89015774-C-G |
c.1775G>C |
p.C592S |
Missense |
15/16 |
- |
2 |
4-89015775-A-C |
c.1774T>G |
p.C592G |
Missense |
15/16 |
- |
1 |
4-89015775-A-T |
c.1774T>A |
p.C592S |
Missense |
15/16 |
- |
2 |
4-89015776-G-A |
c.1773C>T |
p.F591= |
Synonymous |
15/16 |
- |
2 |
4-89015781-T-A |
c.1768A>T |
p.N590Y |
Missense |
15/16 |
- |
19 |
4-89015783-T-C |
c.1766A>G |
p.Q589R |
Missense |
15/16 |
- |
2 |
4-89015787-C-T |
c.1762G>A |
p.G588R |
Missense |
15/16 |
- |
1 |
4-89015788-C-T |
c.1761G>A |
p.L587= |
Synonymous |
15/16 |
- |
1 |
4-89015791-A-G |
c.1758T>C |
p.F586= |
Synonymous |
15/16 |
- |
2 |
4-89015788-C-CA |
c.1760dup |
p.L587Ffs*18 |
Frameshift |
15/16 |
- |
3 |
4-89015794-T-A |
c.1755A>T |
p.E585D |
Missense |
15/16 |
- |
2 |
4-89015794-T-G |
c.1755A>C |
p.E585D |
Missense |
15/16 |
- |
1 |
4-89015795-TC-CT |
c.1753_1754delinsAG |
p.E585R |
Missense |
15/16 |
- |
1 |
4-89015796-C-A |
c.1753G>T |
p.E585* |
Nonsense |
15/16 |
- |
1 |
4-89015796-C-T |
c.1753G>A |
p.E585K |
Missense |
15/16 |
- |
4 |
4-89015801-T-C |
c.1748A>G |
p.H583R |
Missense |
15/16 |
- |
2 |
4-89015801-TG-GC |
c.1747_1748delinsGC |
p.H583A |
Missense |
15/16 |
- |
1 |
4-89015805-TG-T |
c.1744del |
p.Q582Sfs*34 |
Frameshift |
15/16 |
- |
1 |
4-89015806-C-T |
c.1743G>A |
p.L581= |
Synonymous |
15/16 |
- |
1 |
4-89015810-G-A |
c.1739C>T |
p.A580V |
Missense |
15/16 |
- |
1 |
4-89015810-G-C |
c.1739C>G |
p.A580G |
Missense |
15/16 |
- |
1 |
4-89015811-C-T |
c.1738G>A |
p.A580T |
Missense |
15/16 |
- |
1 |
4-89015812-C-T |
c.1738-1G>A |
- |
IntronicSNV |
- |
14/15 |
1 |
4-89015857-C-A |
c.1738-46G>T |
- |
IntronicSNV |
- |
14/15 |
26 |
4-89015857-C-T |
c.1738-46G>A |
- |
IntronicSNV |
- |
14/15 |
26 |
4-89016175-G-A |
c.1738-364C>T |
- |
IntronicSNV |
- |
14/15 |
6 |
4-89016671-C-A |
c.1737+1G>T |
- |
IntronicSNV |
- |
14/15 |
1 |
4-89016671-C-G |
c.1737+1G>C |
- |
IntronicSNV |
- |
14/15 |
1 |
4-89016672-C-G |
c.1737G>C |
p.T579= |
Synonymous |
14/16 |
- |
1 |
4-89016672-C-T |
c.1737G>A |
p.T579= |
Synonymous |
14/16 |
- |
1 |
4-89016673-G-A |
c.1736C>T |
p.T579M |
Missense |
14/16 |
- |
2 |
4-89016679-C-T |
c.1730G>A |
p.G577E |
Missense |
14/16 |
- |
1 |
4-89016681-A-C |
c.1728T>G |
p.Y576* |
Nonsense |
14/16 |
- |
5 |
4-89016681-A-G |
c.1728T>C |
p.Y576= |
Synonymous |
14/16 |
- |
2 |
4-89016681-A-T |
c.1728T>A |
p.Y576* |
Nonsense |
14/16 |
- |
4 |
4-89016684-TCG-GTC |
c.1723_1725delinsGAC |
p.R575D |
Missense |
14/16 |
- |
1 |
4-89016685-C-A |
c.1724G>T |
p.R575L |
Missense |
14/16 |
- |
1 |
4-89016685-CG-TC |
c.1723_1724delinsGA |
p.R575E |
Missense |
14/16 |
- |
1 |
4-89016685-CG-TT |
c.1723_1724delinsAA |
p.R575K |
Missense |
14/16 |
- |
1 |
4-89016685-C-T |
c.1724G>A |
p.R575Q |
Missense |
14/16 |
- |
1 |
4-89016684-T-C |
c.1725A>G |
p.R575= |
Synonymous |
14/16 |
- |
1 |
4-89016686-G-A |
c.1723C>T |
p.R575* |
Nonsense |
14/16 |
- |
4 |
4-89016688-G-A |
c.1721C>T |
p.P574L |
Missense |
14/16 |
- |
2 |
4-89016689-G-C |
c.1720C>G |
p.P574A |
Missense |
14/16 |
- |
1 |
4-89016691-A-T |
c.1718T>A |
p.I573N |
Missense |
14/16 |
- |
4 |
4-89016691-AT-GC |
c.1717_1718delinsGC |
p.I573A |
Missense |
14/16 |
- |
3 |
4-89016692-T-A |
c.1717A>T |
p.I573F |
Missense |
14/16 |
- |
1 |
4-89016693-G-A |
c.1716C>T |
p.S572= |
Synonymous |
14/16 |
- |
1 |
4-89016693-G-C |
c.1716C>G |
p.S572R |
Missense |
14/16 |
- |
2 |
4-89016693-G-T |
c.1716C>A |
p.S572R |
Missense |
14/16 |
- |
2 |
4-89016695-T-G |
c.1714A>C |
p.S572R |
Missense |
14/16 |
- |
9 |
4-89016697-AA-GC |
c.1711_1712delinsGC |
p.F571A |
Missense |
14/16 |
- |
1 |
4-89016698-A-T |
c.1711T>A |
p.F571I |
Missense |
14/16 |
- |
6 |
4-89016700-TA-GC |
c.1708_1709delinsGC |
p.Y570A |
Missense |
14/16 |
- |
1 |
4-89016701-A-G |
c.1708T>C |
p.Y570H |
Missense |
14/16 |
- |
1 |
4-89016701-A-T |
c.1708T>A |
p.Y570N |
Missense |
14/16 |
- |
1 |
4-89016702-C-T |
c.1707G>A |
p.Q569= |
Synonymous |
14/16 |
- |
1 |
4-89016703-T-C |
c.1706A>G |
p.Q569R |
Missense |
14/16 |
- |
2 |
4-89016704-G-A |
c.1705C>T |
p.Q569* |
Nonsense |
14/16 |
- |
2 |
4-89016704-G-T |
c.1705C>A |
p.Q569K |
Missense |
14/16 |
- |
1 |
4-89016707-G-A |
c.1702C>T |
p.L568F |
Missense |
14/16 |
- |
1 |
4-89016709-C-A |
c.1700G>T |
p.W567L |
Missense |
14/16 |
- |
1 |
4-89016709-C-T |
c.1700G>A |
p.W567* |
Nonsense |
14/16 |
- |
1 |
4-89016711-T-A |
c.1698A>T |
p.S566= |
Synonymous |
14/16 |
- |
1 |
4-89016711-T-C |
c.1698A>G |
p.S566= |
Synonymous |
14/16 |
- |
1 |
4-89016711-T-G |
c.1698A>C |
p.S566= |
Synonymous |
14/16 |
- |
1 |
4-89016712-G-A |
c.1697C>T |
p.S566L |
Missense |
14/16 |
- |
2 |
4-89016714-C-A |
c.1695G>T |
p.L565= |
Synonymous |
14/16 |
- |
1 |
4-89016714-C-G |
c.1695G>C |
p.L565= |
Synonymous |
14/16 |
- |
2 |
4-89016714-C-T |
c.1695G>A |
p.L565= |
Synonymous |
14/16 |
- |
1 |
4-89016716-G-A |
c.1693C>T |
p.L565= |
Synonymous |
14/16 |
- |
1 |
4-89016718-CA-GC |
c.1690_1691delinsGC |
p.W564A |
Missense |
14/16 |
- |
1 |
4-89016718-C-T |
c.1691G>A |
p.W564* |
Nonsense |
14/16 |
- |
1 |
4-89016723-T-A |
c.1686A>T |
p.A562= |
Synonymous |
14/16 |
- |
1 |
4-89016723-T-C |
c.1686A>G |
p.A562= |
Synonymous |
14/16 |
- |
1 |
4-89016723-T-G |
c.1686A>C |
p.A562= |
Synonymous |
14/16 |
- |
1 |
4-89016727-A-G |
c.1682T>C |
p.I561T |
Missense |
14/16 |
- |
1 |
4-89016728-T-C |
c.1681A>G |
p.I561V |
Missense |
14/16 |
- |
1 |
4-89016731-T-C |
c.1678A>G |
p.T560A |
Missense |
14/16 |
- |
2 |
4-89016736-AG-GC |
c.1672_1673delinsGC |
p.L558A |
Missense |
14/16 |
- |
2 |
4-89016738-ATT-CTC |
c.1669_1671delinsGAG |
p.N557E |
Missense |
14/16 |
- |
1 |
4-89016738-ATT-TTA |
c.1669_1671delinsTAA |
p.N557* |
Nonsense |
14/16 |
- |
1 |
4-89016738-ATT-TTG |
c.1669_1671delinsCAA |
p.N557Q |
Missense |
14/16 |
- |
1 |
4-89016739-T-C |
c.1670A>G |
p.N557S |
Missense |
14/16 |
- |
1 |
4-89016740-T-C |
c.1669A>G |
p.N557D |
Missense |
14/16 |
- |
2 |
4-89016740-T-G |
c.1669A>C |
p.N557H |
Missense |
14/16 |
- |
1 |
4-89016741-TG-T |
c.1668del |
p.N557Ifs*59 |
Frameshift |
14/16 |
- |
1 |
4-89016743-C-A |
c.1666G>T |
p.V556F |
Missense |
14/16 |
- |
1 |
4-89016744-C-A |
c.1665G>T |
p.L555F |
Missense |
14/16 |
- |
1 |
4-89016744-CA-AC |
c.1664_1665delinsGT |
p.L555C |
Missense |
14/16 |
- |
1 |
4-89016744-CAA-GAT |
c.1663_1665delinsATC |
p.L555I |
Missense |
14/16 |
- |
1 |
4-89016745-AA-GC |
c.1663_1664delinsGC |
p.L555A |
Missense |
14/16 |
- |
5 |
4-89016747-C-A |
c.1662G>T |
p.L554= |
Synonymous |
14/16 |
- |
1 |
4-89016747-CAG-ACA |
c.1660_1662delinsTGT |
p.L554C |
Missense |
14/16 |
- |
1 |
4-89016747-CAG-GAT |
c.1660_1662delinsATC |
p.L554I |
Missense |
14/16 |
- |
2 |
4-89016747-C-G |
c.1662G>C |
p.L554= |
Synonymous |
14/16 |
- |
1 |
4-89016747-C-T |
c.1662G>A |
p.L554= |
Synonymous |
14/16 |
- |
1 |
4-89016749-G-A |
c.1660C>T |
p.L554= |
Synonymous |
14/16 |
- |
1 |
4-89016748-A-G |
c.1661T>C |
p.L554P |
Missense |
14/16 |
- |
3 |
4-89016748-AG-GC |
c.1660_1661delinsGC |
p.L554A |
Missense |
14/16 |
- |
3 |
4-89016749-G-C |
c.1660C>G |
p.L554V |
Missense |
14/16 |
- |
1 |
4-89016750-A-C |
c.1659T>G |
p.G553= |
Synonymous |
14/16 |
- |
1 |
4-89016750-AC-CT |
c.1658_1659delinsAG |
p.G553E |
Missense |
14/16 |
- |
3 |
4-89016750-A-G |
c.1659T>C |
p.G553= |
Synonymous |
14/16 |
- |
3 |
4-89016750-A-T |
c.1659T>A |
p.G553= |
Synonymous |
14/16 |
- |
1 |
4-89016751-CC-AG |
c.1657_1658delinsCT |
p.G553L |
Missense |
14/16 |
- |
3 |
4-89016751-C-G |
c.1658G>C |
p.G553A |
Missense |
14/16 |
- |
1 |
4-89016752-C-G |
c.1657G>C |
p.G553R |
Missense |
14/16 |
- |
1 |
4-89016753-T-C |
c.1656A>G |
p.S552= |
Synonymous |
14/16 |
- |
1 |
4-89016756-A-T |
c.1653T>A |
p.F551L |
Missense |
14/16 |
- |
1 |
4-89016754-G-GA |
c.1654dup |
p.S552Ffs*33 |
Frameshift |
14/16 |
- |
1 |
4-89016760-A-G |
c.1649T>C |
p.I550T |
Missense |
14/16 |
- |
1 |
4-89016782-A-G |
c.1648-21T>C |
- |
IntronicSNV |
- |
13/15 |
12 |
4-89017070-A-C |
c.1648-309T>G |
- |
IntronicSNV |
- |
13/15 |
2 |
4-89017072-T-C |
c.1648-311A>G |
- |
IntronicSNV |
- |
13/15 |
2 |
4-89017699-T-C |
c.1647+906A>G |
- |
IntronicSNV |
- |
13/15 |
2 |
4-89018044-C-T |
c.1647+561G>A |
- |
IntronicSNV |
- |
13/15 |
1 |
4-89018296-A-G |
c.1647+309T>C |
- |
IntronicSNV |
- |
13/15 |
2 |
4-89018527-T-A |
c.1647+78A>T |
- |
IntronicSNV |
- |
13/15 |
1 |
4-89018540-A-C |
c.1647+65T>G |
- |
IntronicSNV |
- |
13/15 |
1 |
4-89018565-A-G |
c.1647+40T>C |
- |
IntronicSNV |
- |
13/15 |
8 |
4-89018606-AT-GC |
c.1645_1646delinsGC |
p.M549A |
Missense |
13/16 |
- |
4 |
4-89018607-T-A |
c.1645A>T |
p.M549L |
Missense |
13/16 |
- |
1 |
4-89018609-AT-GC |
c.1642_1643delinsGC |
p.M548A |
Missense |
13/16 |
- |
1 |
4-89018613-A-C |
c.1639T>G |
p.F547V |
Missense |
13/16 |
- |
1 |
4-89018614-CAC-AAA |
c.1636_1638delinsTTT |
p.V546F |
Missense |
13/16 |
- |
3 |
4-89018615-A-G |
c.1637T>C |
p.V546A |
Missense |
13/16 |
- |
1 |
4-89018618-AA-GC |
c.1633_1634delinsGC |
p.F545A |
Missense |
13/16 |
- |
2 |
4-89018618-A-C |
c.1634T>G |
p.F545C |
Missense |
13/16 |
- |
1 |
4-89018617-A-C |
c.1635T>G |
p.F545L |
Missense |
13/16 |
- |
1 |
4-89018617-A-T |
c.1635T>A |
p.F545L |
Missense |
13/16 |
- |
1 |
4-89018619-A-C |
c.1633T>G |
p.F545V |
Missense |
13/16 |
- |
1 |
4-89018619-A-G |
c.1633T>C |
p.F545L |
Missense |
13/16 |
- |
1 |
4-89018621-CA-GC |
c.1630_1631delinsGC |
p.C544A |
Missense |
13/16 |
- |
1 |
4-89018622-A-G |
c.1630T>C |
p.C544R |
Missense |
13/16 |
- |
1 |
4-89018623-G-A |
c.1629C>T |
p.I543= |
Synonymous |
13/16 |
- |
1 |
4-89018623-G-T |
c.1629C>A |
p.I543= |
Synonymous |
13/16 |
- |
1 |
4-89018624-A-G |
c.1628T>C |
p.I543T |
Missense |
13/16 |
- |
1 |
4-89018624-AT-GC |
c.1627_1628delinsGC |
p.I543A |
Missense |
13/16 |
- |
2 |
4-89018625-T-G |
c.1627A>C |
p.I543L |
Missense |
13/16 |
- |
2 |
4-89018626-G-A |
c.1626C>T |
p.T542= |
Synonymous |
13/16 |
- |
1 |
4-89018626-G-C |
c.1626C>G |
p.T542= |
Synonymous |
13/16 |
- |
1 |
4-89018626-G-T |
c.1626C>A |
p.T542= |
Synonymous |
13/16 |
- |
1 |
4-89018628-T-C |
c.1624A>G |
p.T542A |
Missense |
13/16 |
- |
8 |
4-89018630-AT-GC |
c.1621_1622delinsGC |
p.M541A |
Missense |
13/16 |
- |
1 |
4-89018633-AG-GC |
c.1618_1619delinsGC |
p.L540A |
Missense |
13/16 |
- |
1 |
4-89018634-G-T |
c.1618C>A |
p.L540I |
Missense |
13/16 |
- |
1 |
4-89018636-A-C |
c.1616T>G |
p.L539R |
Missense |
13/16 |
- |
3 |
4-89018636-AG-GC |
c.1615_1616delinsGC |
p.L539A |
Missense |
13/16 |
- |
1 |
4-89018638-T-A |
c.1614A>T |
p.T538= |
Synonymous |
13/16 |
- |
1 |
4-89018638-T-C |
c.1614A>G |
p.T538= |
Synonymous |
13/16 |
- |
1 |
4-89018639-G-A |
c.1613C>T |
p.T538I |
Missense |
13/16 |
- |
1 |
4-89018641-TGC-ACA |
c.1609_1611delinsTGT |
p.A537C |
Missense |
13/16 |
- |
1 |
4-89018646-C-T |
c.1606G>A |
p.V536I |
Missense |
13/16 |
- |
1 |
4-89018647-A-C |
c.1605T>G |
p.S535= |
Synonymous |
13/16 |
- |
1 |
4-89018647-A-G |
c.1605T>C |
p.S535= |
Synonymous |
13/16 |
- |
2 |
4-89018647-A-T |
c.1605T>A |
p.S535= |
Synonymous |
13/16 |
- |
1 |
4-89018648-G-T |
c.1604C>A |
p.S535Y |
Missense |
13/16 |
- |
5 |
4-89018651-AC-CA |
c.1600_1601delinsTG |
p.V534C |
Missense |
13/16 |
- |
1 |
4-89018652-C-G |
c.1600G>C |
p.V534L |
Missense |
13/16 |
- |
1 |
4-89018654-A-G |
c.1598T>C |
p.V533A |
Missense |
13/16 |
- |
1 |
4-89018656-A-T |
c.1596T>A |
p.S532R |
Missense |
13/16 |
- |
1 |
4-89018658-T-A |
c.1594A>T |
p.S532C |
Missense |
13/16 |
- |
4 |
4-89018659-C-T |
c.1593G>A |
p.Q531= |
Synonymous |
13/16 |
- |
1 |
4-89018661-G-A |
c.1591C>T |
p.Q531* |
Nonsense |
13/16 |
- |
2 |
4-89018665-T-A |
c.1587A>T |
p.A529= |
Synonymous |
13/16 |
- |
1 |
4-89018670-C-T |
c.1582G>A |
p.A528T |
Missense |
13/16 |
- |
21 |
4-89018671-T-A |
c.1581A>T |
p.I527= |
Synonymous |
13/16 |
- |
1 |
4-89018671-T-G |
c.1581A>C |
p.I527= |
Synonymous |
13/16 |
- |
1 |
4-89018673-T-A |
c.1579A>T |
p.I527L |
Missense |
13/16 |
- |
2 |
4-89018673-T-G |
c.1579A>C |
p.I527L |
Missense |
13/16 |
- |
1 |
4-89018676-C-A |
c.1576G>T |
p.A526S |
Missense |
13/16 |
- |
1 |
4-89018676-C-T |
c.1576G>A |
p.A526T |
Missense |
13/16 |
- |
3 |
4-89018678-A-C |
c.1574T>G |
p.L525R |
Missense |
13/16 |
- |
7 |
4-89018679-G-C |
c.1573C>G |
p.L525V |
Missense |
13/16 |
- |
1 |
4-89018681-G-A |
c.1571C>T |
p.A524V |
Missense |
13/16 |
- |
1 |
4-89018682-C-T |
c.1570G>A |
p.A524T |
Missense |
13/16 |
- |
1 |
4-89018684-AT-GC |
c.1567_1568delinsGC |
p.M523A |
Missense |
13/16 |
- |
3 |
4-89018685-T-A |
c.1567A>T |
p.M523L |
Missense |
13/16 |
- |
1 |
4-89018686-G-A |
c.1566C>T |
p.S522= |
Synonymous |
13/16 |
- |
1 |
4-89018688-A-C |
c.1564T>G |
p.S522A |
Missense |
13/16 |
- |
1 |
4-89018689-A-G |
c.1563T>C |
p.S521= |
Synonymous |
13/16 |
- |
1 |
4-89018690-C-T |
c.1562G>A |
p.S521N |
Missense |
13/16 |
- |
4 |
4-89018692-G-A |
c.1560C>T |
p.A520= |
Synonymous |
13/16 |
- |
1 |
4-89018694-C-T |
c.1558G>A |
p.A520T |
Missense |
13/16 |
- |
2 |
4-89018696-G-A |
c.1556C>T |
p.S519L |
Missense |
13/16 |
- |
2 |
4-89018697-A-C |
c.1555T>G |
p.S519A |
Missense |
13/16 |
- |
1 |
4-89018697-A-G |
c.1555T>C |
p.S519P |
Missense |
13/16 |
- |
1 |
4-89018698-A-G |
c.1554T>C |
p.Y518= |
Synonymous |
13/16 |
- |
1 |
4-89018700-A-G |
c.1552T>C |
p.Y518H |
Missense |
13/16 |
- |
1 |
4-89018706-C-T |
c.1546G>A |
p.V516M |
Missense |
13/16 |
- |
1 |
4-89018708-A-C |
c.1544T>G |
p.M515R |
Missense |
13/16 |
- |
4 |
4-89018709-T-C |
c.1543A>G |
p.M515V |
Missense |
13/16 |
- |
1 |
4-89018710-C-A |
c.1542G>T |
p.M514I |
Missense |
13/16 |
- |
1 |
4-89018710-C-G |
c.1542G>C |
p.M514I |
Missense |
13/16 |
- |
4 |
4-89018710-C-T |
c.1542G>A |
p.M514I |
Missense |
13/16 |
- |
4 |
4-89018715-G-C |
c.1537C>G |
p.L513V |
Missense |
13/16 |
- |
3 |
4-89018717-G-C |
c.1535C>G |
p.T512S |
Missense |
13/16 |
- |
2 |
4-89018717-G-T |
c.1535C>A |
p.T512N |
Missense |
13/16 |
- |
1 |
4-89018718-T-A |
c.1534A>T |
p.T512S |
Missense |
13/16 |
- |
1 |
4-89018718-T-G |
c.1534A>C |
p.T512P |
Missense |
13/16 |
- |
4 |
4-89018724-T-C |
c.1528A>G |
p.M510V |
Missense |
13/16 |
- |
1 |
4-89018725-C-A |
c.1527G>T |
p.M509I |
Missense |
13/16 |
- |
3 |
4-89018725-C-G |
c.1527G>C |
p.M509I |
Missense |
13/16 |
- |
1 |
4-89018725-C-T |
c.1527G>A |
p.M509I |
Missense |
13/16 |
- |
4 |
4-89018726-A-G |
c.1526T>C |
p.M509T |
Missense |
13/16 |
- |
1 |
4-89018726-AT-TA |
c.1525_1526delinsTA |
p.M509* |
Nonsense |
13/16 |
- |
1 |
4-89018727-T-C |
c.1525A>G |
p.M509V |
Missense |
13/16 |
- |
1 |
4-89018727-T-G |
c.1525A>C |
p.M509L |
Missense |
13/16 |
- |
1 |
4-89018730-C-G |
c.1522G>C |
p.V508L |
Missense |
13/16 |
- |
1 |
4-89018730-C-T |
c.1522G>A |
p.V508I |
Missense |
13/16 |
- |
2 |
4-89018731-G-A |
c.1521C>T |
p.F507= |
Synonymous |
13/16 |
- |
3 |
4-89018733-A-G |
c.1519T>C |
p.F507L |
Missense |
13/16 |
- |
1 |
4-89018735-A-G |
c.1517T>C |
p.F506S |
Missense |
13/16 |
- |
1 |
4-89018734-GA-G |
c.1517del |
p.F506Sfs*4 |
Frameshift |
13/16 |
- |
1 |
4-89018736-A-G |
c.1516T>C |
p.F506L |
Missense |
13/16 |
- |
1 |
4-89018736-AG-A |
c.1515del |
p.F506Sfs*4 |
Frameshift |
13/16 |
- |
1 |
4-89018738-G-C |
c.1514C>G |
p.A505G |
Missense |
13/16 |
- |
1 |
4-89018738-G-T |
c.1514C>A |
p.A505D |
Missense |
13/16 |
- |
1 |
4-89018739-C-G |
c.1513G>C |
p.A505P |
Missense |
13/16 |
- |
1 |
4-89018739-C-T |
c.1513G>A |
p.A505T |
Missense |
13/16 |
- |
1 |
4-89018740-A-C |
c.1512T>G |
p.D504E |
Missense |
13/16 |
- |
1 |
4-89018740-A-G |
c.1512T>C |
p.D504= |
Synonymous |
13/16 |
- |
2 |
4-89018740-A-T |
c.1512T>A |
p.D504E |
Missense |
13/16 |
- |
2 |
4-89018740-ATC-CTT |
c.1510_1512delinsAAG |
p.D504K |
Missense |
13/16 |
- |
1 |
4-89018741-T-C |
c.1511A>G |
p.D504G |
Missense |
13/16 |
- |
1 |
4-89018742-C-T |
c.1510G>A |
p.D504N |
Missense |
13/16 |
- |
1 |
4-89018744-G-A |
c.1508C>T |
p.A503V |
Missense |
13/16 |
- |
3 |
4-89018745-C-T |
c.1507G>A |
p.A503T |
Missense |
13/16 |
- |
3 |
4-89018746-C-T |
c.1506G>A |
p.K502= |
Synonymous |
13/16 |
- |
2 |
4-89018748-T-C |
c.1504A>G |
p.K502E |
Missense |
13/16 |
- |
3 |
4-89018751-G-C |
c.1501C>G |
p.P501A |
Missense |
13/16 |
- |
4 |
4-89018752-C-A |
c.1500G>T |
p.K500N |
Missense |
13/16 |
- |
3 |
4-89018752-C-G |
c.1500G>C |
p.K500N |
Missense |
13/16 |
- |
2 |
4-89018752-C-T |
c.1500G>A |
p.K500= |
Synonymous |
13/16 |
- |
1 |
4-89018752-CTT-ATG |
c.1498_1500delinsCAT |
p.K500H |
Missense |
13/16 |
- |
1 |
4-89018753-T-A |
c.1499A>T |
p.K500M |
Missense |
13/16 |
- |
1 |
4-89018753-T-C |
c.1499A>G |
p.K500R |
Missense |
13/16 |
- |
1 |
4-89018753-TT-GC |
c.1498_1499delinsGC |
p.K500A |
Missense |
13/16 |
- |
1 |
4-89018754-T-C |
c.1498A>G |
p.K500E |
Missense |
13/16 |
- |
1 |
4-89018755-C-T |
c.1497G>A |
p.L499= |
Synonymous |
13/16 |
- |
2 |
4-89018759-C-T |
c.1493G>A |
p.G498E |
Missense |
13/16 |
- |
3 |
4-89018761-T-C |
c.1493-2A>G |
- |
IntronicSNV |
- |
12/15 |
1 |
4-89018923-T-C |
c.1493-164A>G |
- |
IntronicSNV |
- |
12/15 |
2 |
4-89019615-C-T |
c.1493-856G>A |
- |
IntronicSNV |
- |
12/15 |
1 |
4-89019727-A-G |
c.1492+749T>C |
- |
IntronicSNV |
- |
12/15 |
2 |
4-89019727-A-T |
c.1492+749T>A |
- |
IntronicSNV |
- |
12/15 |
2 |
4-89019735-A-G |
c.1492+741T>C |
- |
IntronicSNV |
- |
12/15 |
1 |
4-89019760-G-A |
c.1492+716C>T |
- |
IntronicSNV |
- |
12/15 |
2 |
4-89019821-T-C |
c.1492+655A>G |
- |
IntronicSNV |
- |
12/15 |
2 |
4-89019837-T-C |
c.1492+639A>G |
- |
IntronicSNV |
- |
12/15 |
3 |
4-89020399-A-G |
c.1492+77T>C |
- |
IntronicSNV |
- |
12/15 |
1 |
4-89020427-C-A |
c.1492+49G>T |
- |
IntronicSNV |
- |
12/15 |
9 |
4-89020432-G-A |
c.1492+44C>T |
- |
IntronicSNV |
- |
12/15 |
1 |
4-89020438-C-T |
c.1492+38G>A |
- |
IntronicSNV |
- |
12/15 |
4 |
4-89020478-AA-GC |
c.1489_1490delinsGC |
p.L497A |
Missense |
12/16 |
- |
1 |
4-89020480-C-A |
c.1488G>T |
p.M496I |
Missense |
12/16 |
- |
1 |
4-89020480-C-T |
c.1488G>A |
p.M496I |
Missense |
12/16 |
- |
1 |
4-89020481-A-T |
c.1487T>A |
p.M496K |
Missense |
12/16 |
- |
1 |
4-89020481-AT-GC |
c.1486_1487delinsGC |
p.M496A |
Missense |
12/16 |
- |
1 |
4-89020482-T-C |
c.1486A>G |
p.M496V |
Missense |
12/16 |
- |
1 |
4-89020483-G-A |
c.1485C>T |
p.F495= |
Synonymous |
12/16 |
- |
1 |
4-89020484-AA-GC |
c.1483_1484delinsGC |
p.F495A |
Missense |
12/16 |
- |
1 |
4-89020484-A-G |
c.1484T>C |
p.F495S |
Missense |
12/16 |
- |
1 |
4-89020485-A-G |
c.1483T>C |
p.F495L |
Missense |
12/16 |
- |
1 |
4-89020486-G-T |
c.1482C>A |
p.Y494* |
Nonsense |
12/16 |
- |
1 |
4-89020487-TA-GC |
c.1480_1481delinsGC |
p.Y494A |
Missense |
12/16 |
- |
1 |
4-89020488-A-C |
c.1480T>G |
p.Y494D |
Missense |
12/16 |
- |
1 |
4-89020488-A-G |
c.1480T>C |
p.Y494H |
Missense |
12/16 |
- |
1 |
4-89020488-A-T |
c.1480T>A |
p.Y494N |
Missense |
12/16 |
- |
1 |
4-89020489-C-A |
c.1479G>T |
p.V493= |
Synonymous |
12/16 |
- |
1 |
4-89020490-A-G |
c.1478T>C |
p.V493A |
Missense |
12/16 |
- |
2 |
4-89020493-AT-GC |
c.1474_1475delinsGC |
p.I492A |
Missense |
12/16 |
- |
1 |
4-89020496-CA-GC |
c.1471_1472delinsGC |
p.C491A |
Missense |
12/16 |
- |
2 |
4-89020497-A-G |
c.1471T>C |
p.C491R |
Missense |
12/16 |
- |
2 |
4-89020500-T-C |
c.1468A>G |
p.T490A |
Missense |
12/16 |
- |
1 |
4-89020502-AA-GC |
c.1465_1466delinsGC |
p.F489A |
Missense |
12/16 |
- |
1 |
4-89020501-A-C |
c.1467T>G |
p.F489L |
Missense |
12/16 |
- |
12 |
4-89020501-A-T |
c.1467T>A |
p.F489L |
Missense |
12/16 |
- |
11 |
4-89020503-A-G |
c.1465T>C |
p.F489L |
Missense |
12/16 |
- |
25 |
4-89020505-A-G |
c.1463T>C |
p.I488T |
Missense |
12/16 |
- |
1 |
4-89020505-AT-GC |
c.1462_1463delinsGC |
p.I488A |
Missense |
12/16 |
- |
1 |
4-89020508-A-C |
c.1460T>G |
p.I487S |
Missense |
12/16 |
- |
1 |
4-89020508-AT-GC |
c.1459_1460delinsGC |
p.I487A |
Missense |
12/16 |
- |
1 |
4-89020511-C-A |
c.1457G>T |
p.S486I |
Missense |
12/16 |
- |
1 |
4-89020511-C-G |
c.1457G>C |
p.S486T |
Missense |
12/16 |
- |
1 |
4-89020511-C-T |
c.1457G>A |
p.S486N |
Missense |
12/16 |
- |
2 |
4-89020511-CT-GC |
c.1456_1457delinsGC |
p.S486A |
Missense |
12/16 |
- |
1 |
4-89020515-G-C |
c.1453C>G |
p.P485A |
Missense |
12/16 |
- |
6 |
4-89020516-T-A |
c.1452A>T |
p.L484F |
Missense |
12/16 |
- |
1 |
4-89020516-T-G |
c.1452A>C |
p.L484F |
Missense |
12/16 |
- |
1 |
4-89020517-AA-GC |
c.1450_1451delinsGC |
p.L484A |
Missense |
12/16 |
- |
1 |
4-89020517-A-G |
c.1451T>C |
p.L484S |
Missense |
12/16 |
- |
2 |
4-89020519-CAT-AAA |
c.1447_1449delinsTTT |
p.M483F |
Missense |
12/16 |
- |
1 |
4-89020519-C-G |
c.1449G>C |
p.M483I |
Missense |
12/16 |
- |
1 |
4-89020520-A-T |
c.1448T>A |
p.M483K |
Missense |
12/16 |
- |
1 |
4-89020520-AT-GC |
c.1447_1448delinsGC |
p.M483A |
Missense |
12/16 |
- |
1 |
4-89020522-C-A |
c.1446G>T |
p.R482S |
Missense |
12/16 |
- |
5 |
4-89020522-CC-GA |
c.1445_1446delinsTC |
p.R482I |
Missense |
12/16 |
- |
2 |
4-89020522-CC-GT |
c.1445_1446delinsAC |
p.R482N |
Missense |
12/16 |
- |
1 |
4-89020522-CCT-AAA |
c.1444_1446delinsTTT |
p.R482F |
Missense |
12/16 |
- |
1 |
4-89020522-CCT-ATA |
c.1444_1446delinsTAT |
p.R482Y |
Missense |
12/16 |
- |
2 |
4-89020522-CCT-ATG |
c.1444_1446delinsCAT |
p.R482H |
Missense |
12/16 |
- |
1 |
4-89020522-CCT-GTC |
c.1444_1446delinsGAC |
p.R482D |
Missense |
12/16 |
- |
1 |
4-89020522-C-G |
c.1446G>C |
p.R482S |
Missense |
12/16 |
- |
3 |
4-89020522-C-T |
c.1446G>A |
p.R482= |
Synonymous |
12/16 |
- |
3 |
4-89020524-T-G |
c.1444A>C |
p.R482= |
Synonymous |
12/16 |
- |
3 |
4-89020523-C-A |
c.1445G>T |
p.R482M |
Missense |
12/16 |
- |
3 |
4-89020523-C-G |
c.1445G>C |
p.R482T |
Missense |
12/16 |
- |
74 |
4-89020523-C-T |
c.1445G>A |
p.R482K |
Missense |
12/16 |
- |
4 |
4-89020523-CT-AG |
c.1444_1445inv |
p.R482L |
Missense |
12/16 |
- |
1 |
4-89020523-CT-GC |
c.1444_1445delinsGC |
p.R482A |
Missense |
12/16 |
- |
3 |
4-89020523-CT-GG |
c.1444_1445delinsCC |
p.R482P |
Missense |
12/16 |
- |
1 |
4-89020523-CT-TA |
c.1444_1445delinsTA |
p.R482* |
Nonsense |
12/16 |
- |
3 |
4-89020523-CT-TG |
c.1444_1445delinsCA |
p.R482Q |
Missense |
12/16 |
- |
1 |
4-89020524-T-A |
c.1444A>T |
p.R482W |
Missense |
12/16 |
- |
1 |
4-89020524-T-C |
c.1444A>G |
p.R482G |
Missense |
12/16 |
- |
94 |
4-89020525-C-A |
c.1443G>T |
p.M481I |
Missense |
12/16 |
- |
2 |
4-89020525-C-G |
c.1443G>C |
p.M481I |
Missense |
12/16 |
- |
2 |
4-89020525-C-T |
c.1443G>A |
p.M481I |
Missense |
12/16 |
- |
3 |
4-89020526-AT-GC |
c.1441_1442delinsGC |
p.M481A |
Missense |
12/16 |
- |
1 |
4-89020527-T-C |
c.1441A>G |
p.M481V |
Missense |
12/16 |
- |
1 |
4-89020528-G-A |
c.1440C>T |
p.P480= |
Synonymous |
12/16 |
- |
1 |
4-89020528-G-C |
c.1440C>G |
p.P480= |
Synonymous |
12/16 |
- |
1 |
4-89020528-G-T |
c.1440C>A |
p.P480= |
Synonymous |
12/16 |
- |
1 |
4-89020529-G-A |
c.1439C>T |
p.P480L |
Missense |
12/16 |
- |
6 |
4-89020530-G-A |
c.1438C>T |
p.P480S |
Missense |
12/16 |
- |
2 |
4-89020530-G-C |
c.1438C>G |
p.P480A |
Missense |
12/16 |
- |
2 |
4-89020531-TA-AC |
c.1436_1437delinsGT |
p.L479C |
Missense |
12/16 |
- |
1 |
4-89020532-AA-GC |
c.1435_1436delinsGC |
p.L479A |
Missense |
12/16 |
- |
1 |
4-89020532-A-G |
c.1436T>C |
p.L479S |
Missense |
12/16 |
- |
1 |
4-89020535-AA-GC |
c.1432_1433delinsGC |
p.L478A |
Missense |
12/16 |
- |
1 |
4-89020537-A-C |
c.1431T>G |
p.D477E |
Missense |
12/16 |
- |
1 |
4-89020537-A-G |
c.1431T>C |
p.D477= |
Synonymous |
12/16 |
- |
1 |
4-89020537-A-T |
c.1431T>A |
p.D477E |
Missense |
12/16 |
- |
1 |
4-89020538-T-C |
c.1430A>G |
p.D477G |
Missense |
12/16 |
- |
1 |
4-89020538-TC-CG |
c.1429_1430delinsCG |
p.D477R |
Missense |
12/16 |
- |
1 |
4-89020538-T-G |
c.1430A>C |
p.D477A |
Missense |
12/16 |
- |
2 |
4-89020539-C-T |
c.1429G>A |
p.D477N |
Missense |
12/16 |
- |
4 |
4-89020542-A-G |
c.1426T>C |
p.S476P |
Missense |
12/16 |
- |
8 |
4-89020543-T-C |
c.1425A>G |
p.L475= |
Synonymous |
12/16 |
- |
1 |
4-89020546-C-G |
c.1422G>C |
p.L474= |
Synonymous |
12/16 |
- |
1 |
4-89020547-A-G |
c.1421T>C |
p.L474P |
Missense |
12/16 |
- |
1 |
4-89020549-TTT-CCA |
c.1417_1419delinsTGG |
p.K473W |
Missense |
12/16 |
- |
1 |
4-89020550-TT-GC |
c.1417_1418delinsGC |
p.K473A |
Missense |
12/16 |
- |
3 |
4-89020551-T-C |
c.1417A>G |
p.K473E |
Missense |
12/16 |
- |
3 |
4-89020553-C-G |
c.1415G>C |
p.G472A |
Missense |
12/16 |
- |
1 |
4-89020553-C-T |
c.1415G>A |
p.G472E |
Missense |
12/16 |
- |
4 |
4-89020554-C-G |
c.1414G>C |
p.G472R |
Missense |
12/16 |
- |
1 |
4-89020557-G-C |
c.1411C>G |
p.L471V |
Missense |
12/16 |
- |
1 |
4-89020562-TA-GC |
c.1405_1406delinsGC |
p.Y469A |
Missense |
12/16 |
- |
2 |
4-89020562-T-G |
c.1406A>C |
p.Y469S |
Missense |
12/16 |
- |
1 |
4-89020563-A-G |
c.1405T>C |
p.Y469H |
Missense |
12/16 |
- |
1 |
4-89020564-A-G |
c.1404T>C |
p.S468= |
Synonymous |
12/16 |
- |
1 |
4-89020565-GA-CG |
c.1402_1403delinsCG |
p.S468R |
Missense |
12/16 |
- |
1 |
4-89020565-G-T |
c.1403C>A |
p.S468Y |
Missense |
12/16 |
- |
1 |
4-89020567-T-A |
c.1401A>T |
p.S467= |
Synonymous |
12/16 |
- |
1 |
4-89020567-T-C |
c.1401A>G |
p.S467= |
Synonymous |
12/16 |
- |
1 |
4-89020567-T-G |
c.1401A>C |
p.S467= |
Synonymous |
12/16 |
- |
1 |
4-89020572-C-A |
c.1396G>T |
p.V466L |
Missense |
12/16 |
- |
1 |
4-89020572-C-G |
c.1396G>C |
p.V466L |
Missense |
12/16 |
- |
1 |
4-89020572-C-T |
c.1396G>A |
p.V466M |
Missense |
12/16 |
- |
3 |
4-89020573-TCT-ATG |
c.1393_1395delinsCAT |
p.R465H |
Missense |
12/16 |
- |
1 |
4-89020574-CT-GC |
c.1393_1394delinsGC |
p.R465A |
Missense |
12/16 |
- |
2 |
4-89020574-CT-TC |
c.1393_1394delinsGA |
p.R465E |
Missense |
12/16 |
- |
1 |
4-89020576-G-A |
c.1392C>T |
p.Y464= |
Synonymous |
12/16 |
- |
1 |
4-89020576-G-C |
c.1392C>G |
p.Y464* |
Nonsense |
12/16 |
- |
1 |
4-89020577-T-A |
c.1391A>T |
p.Y464F |
Missense |
12/16 |
- |
1 |
4-89020577-TA-GC |
c.1390_1391delinsGC |
p.Y464A |
Missense |
12/16 |
- |
1 |
4-89020579-G-C |
c.1389C>G |
p.Y463* |
Nonsense |
12/16 |
- |
1 |
4-89020579-G-T |
c.1389C>A |
p.Y463* |
Nonsense |
12/16 |
- |
1 |
4-89020580-T-A |
c.1388A>T |
p.Y463F |
Missense |
12/16 |
- |
1 |
4-89020580-TA-GC |
c.1387_1388delinsGC |
p.Y463A |
Missense |
12/16 |
- |
1 |
4-89020580-T-C |
c.1388A>G |
p.Y463C |
Missense |
12/16 |
- |
1 |
4-89020582-T-A |
c.1386A>T |
p.G462= |
Synonymous |
12/16 |
- |
1 |
4-89020582-T-C |
c.1386A>G |
p.G462= |
Synonymous |
12/16 |
- |
1 |
4-89020582-T-G |
c.1386A>C |
p.G462= |
Synonymous |
12/16 |
- |
1 |
4-89020583-C-A |
c.1385G>T |
p.G462V |
Missense |
12/16 |
- |
1 |
4-89020583-CC-GG |
c.1384_1385inv |
p.G462P |
Missense |
12/16 |
- |
1 |
4-89020583-C-G |
c.1385G>C |
p.G462A |
Missense |
12/16 |
- |
1 |
4-89020584-C-A |
c.1384G>T |
p.G462* |
Nonsense |
12/16 |
- |
1 |
4-89020584-C-G |
c.1384G>C |
p.G462R |
Missense |
12/16 |
- |
1 |
4-89020584-C-T |
c.1384G>A |
p.G462R |
Missense |
12/16 |
- |
4 |
4-89020585-G-A |
c.1383C>T |
p.S461= |
Synonymous |
12/16 |
- |
1 |
4-89020592-T-C |
c.1376A>G |
p.Y459C |
Missense |
12/16 |
- |
2 |
4-89020592-T-G |
c.1376A>C |
p.Y459S |
Missense |
12/16 |
- |
1 |
4-89020593-A-G |
c.1375T>C |
p.Y459H |
Missense |
12/16 |
- |
1 |
4-89020594-T-A |
c.1374A>T |
p.E458D |
Missense |
12/16 |
- |
1 |
4-89020594-T-G |
c.1374A>C |
p.E458D |
Missense |
12/16 |
- |
1 |
4-89020595-TC-CT |
c.1372_1373delinsAG |
p.E458R |
Missense |
12/16 |
- |
1 |
4-89020598-T-C |
c.1370A>G |
p.H457R |
Missense |
12/16 |
- |
1 |
4-89020598-TG-GC |
c.1369_1370delinsGC |
p.H457A |
Missense |
12/16 |
- |
2 |
4-89020599-G-A |
c.1369C>T |
p.H457Y |
Missense |
12/16 |
- |
1 |
4-89020621-T-A |
c.1368-21A>T |
- |
IntronicSNV |
- |
11/15 |
1 |
4-89020767-C-T |
c.1368-167G>A |
- |
IntronicSNV |
- |
11/15 |
2 |
4-89020934-G-A |
c.1368-334C>T |
- |
IntronicSNV |
- |
11/15 |
18 |
4-89021422-G-C |
c.1368-822C>G |
- |
IntronicSNV |
- |
11/15 |
2 |
4-89021642-G-A |
c.1367+740C>T |
- |
IntronicSNV |
- |
11/15 |
1 |
4-89021685-C-G |
c.1367+697G>C |
- |
IntronicSNV |
- |
11/15 |
2 |
4-89021685-C-T |
c.1367+697G>A |
- |
IntronicSNV |
- |
11/15 |
2 |
4-89021706-A-G |
c.1367+676T>C |
- |
IntronicSNV |
- |
11/15 |
2 |
4-89021923-C-T |
c.1367+459G>A |
- |
IntronicSNV |
- |
11/15 |
2 |
4-89022188-C-T |
c.1367+194G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
4-89022286-C-T |
c.1367+96G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
4-89022362-C-T |
c.1367+20G>A |
- |
IntronicSNV |
- |
11/15 |
13 |
4-89022367-C-A |
c.1367+15G>T |
- |
IntronicSNV |
- |
11/15 |
1 |
4-89022367-C-G |
c.1367+15G>C |
- |
IntronicSNV |
- |
11/15 |
1 |
4-89022383-T-A |
c.1366A>T |
p.I456L |
Missense |
11/16 |
- |
1 |
4-89022383-T-C |
c.1366A>G |
p.I456V |
Missense |
11/16 |
- |
1 |
4-89022383-T-G |
c.1366A>C |
p.I456L |
Missense |
11/16 |
- |
1 |
4-89022385-AA-GC |
c.1363_1364delinsGC |
p.F455A |
Missense |
11/16 |
- |
1 |
4-89022390-C-T |
c.1359G>A |
p.K453= |
Synonymous |
11/16 |
- |
1 |
4-89022390-CTT-GTC |
c.1357_1359delinsGAC |
p.K453D |
Missense |
11/16 |
- |
2 |
4-89022391-T-C |
c.1358A>G |
p.K453R |
Missense |
11/16 |
- |
3 |
4-89022391-TT-GC |
c.1357_1358delinsGC |
p.K453A |
Missense |
11/16 |
- |
1 |
4-89022392-T-C |
c.1357A>G |
p.K453E |
Missense |
11/16 |
- |
1 |
4-89022393-C-A |
c.1356G>T |
p.K452N |
Missense |
11/16 |
- |
3 |
4-89022393-C-G |
c.1356G>C |
p.K452N |
Missense |
11/16 |
- |
1 |
4-89022393-C-T |
c.1356G>A |
p.K452= |
Synonymous |
11/16 |
- |
1 |
4-89022394-T-C |
c.1355A>G |
p.K452R |
Missense |
11/16 |
- |
1 |
4-89022394-TT-GC |
c.1354_1355delinsGC |
p.K452A |
Missense |
11/16 |
- |
2 |
4-89022395-T-C |
c.1354A>G |
p.K452E |
Missense |
11/16 |
- |
1 |
4-89022396-C-A |
c.1353G>T |
p.E451D |
Missense |
11/16 |
- |
2 |
4-89022396-C-G |
c.1353G>C |
p.E451D |
Missense |
11/16 |
- |
2 |
4-89022397-TC-CT |
c.1351_1352delinsAG |
p.E451R |
Missense |
11/16 |
- |
1 |
4-89022397-T-G |
c.1352A>C |
p.E451A |
Missense |
11/16 |
- |
1 |
4-89022402-C-T |
c.1347G>A |
p.V449= |
Synonymous |
11/16 |
- |
1 |
4-89022403-A-G |
c.1346T>C |
p.V449A |
Missense |
11/16 |
- |
1 |
4-89022406-A-T |
c.1343T>A |
p.F448Y |
Missense |
11/16 |
- |
1 |
4-89022409-A-G |
c.1340T>C |
p.L447P |
Missense |
11/16 |
- |
1 |
4-89022410-G-C |
c.1339C>G |
p.L447V |
Missense |
11/16 |
- |
1 |
4-89022411-T-A |
c.1338A>T |
p.E446D |
Missense |
11/16 |
- |
1 |
4-89022411-T-G |
c.1338A>C |
p.E446D |
Missense |
11/16 |
- |
1 |
4-89022412-T-G |
c.1337A>C |
p.E446A |
Missense |
11/16 |
- |
1 |
4-89022413-C-A |
c.1336G>T |
p.E446* |
Nonsense |
11/16 |
- |
1 |
4-89022413-C-CA |
c.1335_1336insT |
p.E446* |
Nonsense |
11/16 |
- |
1 |
4-89022413-C-T |
c.1336G>A |
p.E446K |
Missense |
11/16 |
- |
1 |
4-89022412-TC-T |
c.1336del |
p.E446Nfs*5 |
Frameshift |
11/16 |
- |
1 |
4-89022415-A-C |
c.1334T>G |
p.V445G |
Missense |
11/16 |
- |
1 |
4-89022416-C-A |
c.1333G>T |
p.V445L |
Missense |
11/16 |
- |
1 |
4-89022416-C-T |
c.1333G>A |
p.V445M |
Missense |
11/16 |
- |
3 |
4-89022417-G-A |
c.1332C>T |
p.A444= |
Synonymous |
11/16 |
- |
1 |
4-89022421-G-A |
c.1328C>T |
p.S443L |
Missense |
11/16 |
- |
1 |
4-89022422-A-C |
c.1327T>G |
p.S443A |
Missense |
11/16 |
- |
1 |
4-89022422-A-T |
c.1327T>A |
p.S443T |
Missense |
11/16 |
- |
1 |
4-89022423-A-C |
c.1326T>G |
p.V442= |
Synonymous |
11/16 |
- |
3 |
4-89022423-A-G |
c.1326T>C |
p.V442= |
Synonymous |
11/16 |
- |
1 |
4-89022423-A-T |
c.1326T>A |
p.V442= |
Synonymous |
11/16 |
- |
1 |
4-89022424-A-G |
c.1325T>C |
p.V442A |
Missense |
11/16 |
- |
1 |
4-89022427-C-T |
c.1322G>A |
p.S441N |
Missense |
11/16 |
- |
22 |
4-89022427-CT-GG |
c.1321_1322delinsCC |
p.S441P |
Missense |
11/16 |
- |
1 |
4-89022417-GGCTGAAACACT-G |
c.1321_1331del |
p.S441Rfs*14 |
Frameshift |
11/16 |
- |
1 |
4-89022430-C-T |
c.1319G>A |
p.S440N |
Missense |
11/16 |
- |
3 |
4-89022430-CT-GC |
c.1318_1319delinsGC |
p.S440A |
Missense |
11/16 |
- |
1 |
4-89022432-G-A |
c.1317C>T |
p.F439= |
Synonymous |
11/16 |
- |
2 |
4-89022432-GA-CC |
c.1316_1317delinsGG |
p.F439W |
Missense |
11/16 |
- |
1 |
4-89022433-AA-GC |
c.1315_1316delinsGC |
p.F439A |
Missense |
11/16 |
- |
3 |
4-89022433-A-G |
c.1316T>C |
p.F439S |
Missense |
11/16 |
- |
1 |
4-89022433-A-T |
c.1316T>A |
p.F439Y |
Missense |
11/16 |
- |
1 |
4-89022436-CA-GC |
c.1312_1313delinsGC |
p.C438A |
Missense |
11/16 |
- |
1 |
4-89022436-C-T |
c.1313G>A |
p.C438Y |
Missense |
11/16 |
- |
1 |
4-89022437-A-G |
c.1312T>C |
p.C438R |
Missense |
11/16 |
- |
4 |
4-89022439-T-C |
c.1310A>G |
p.Q437R |
Missense |
11/16 |
- |
1 |
4-89022439-T-G |
c.1310A>C |
p.Q437P |
Missense |
11/16 |
- |
1 |
4-89022440-G-A |
c.1309C>T |
p.Q437* |
Nonsense |
11/16 |
- |
1 |
4-89022440-G-T |
c.1309C>A |
p.Q437K |
Missense |
11/16 |
- |
1 |
4-89022442-T-A |
c.1307A>T |
p.N436I |
Missense |
11/16 |
- |
1 |
4-89022442-TT-GC |
c.1306_1307delinsGC |
p.N436A |
Missense |
11/16 |
- |
3 |
4-89022444-G-A |
c.1305C>T |
p.T435= |
Synonymous |
11/16 |
- |
1 |
4-89022445-G-T |
c.1304C>A |
p.T435N |
Missense |
11/16 |
- |
1 |
4-89022445-GT-AA |
c.1303_1304delinsTT |
p.T435F |
Missense |
11/16 |
- |
1 |
4-89022446-T-C |
c.1303A>G |
p.T435A |
Missense |
11/16 |
- |
1 |
4-89022447-C-A |
c.1302G>T |
p.T434= |
Synonymous |
11/16 |
- |
4 |
4-89022447-C-G |
c.1302G>C |
p.T434= |
Synonymous |
11/16 |
- |
1 |
4-89022447-C-T |
c.1302G>A |
p.T434= |
Synonymous |
11/16 |
- |
3 |
4-89022448-G-A |
c.1301C>T |
p.T434M |
Missense |
11/16 |
- |
9 |
4-89022448-G-T |
c.1301C>A |
p.T434K |
Missense |
11/16 |
- |
1 |
4-89022455-A-G |
c.1294T>C |
p.F432L |
Missense |
11/16 |
- |
4 |
4-89022457-A-C |
c.1292T>G |
p.F431C |
Missense |
11/16 |
- |
1 |
4-89022456-G-C |
c.1293C>G |
p.F431L |
Missense |
11/16 |
- |
11 |
4-89022456-G-T |
c.1293C>A |
p.F431L |
Missense |
11/16 |
- |
11 |
4-89022458-A-G |
c.1291T>C |
p.F431L |
Missense |
11/16 |
- |
12 |
4-89022464-C-T |
c.1285G>A |
p.V429I |
Missense |
11/16 |
- |
1 |
4-89022465-C-T |
c.1284G>A |
p.G428= |
Synonymous |
11/16 |
- |
2 |
4-89022467-C-A |
c.1282G>T |
p.G428W |
Missense |
11/16 |
- |
1 |
4-89022469-G-T |
c.1280C>A |
p.A427D |
Missense |
11/16 |
- |
4 |
4-89022471-T-C |
c.1278A>G |
p.R426= |
Synonymous |
11/16 |
- |
1 |
4-89022499-C-A |
c.1278-28G>T |
- |
IntronicSNV |
- |
10/15 |
2 |
4-89022499-C-T |
c.1278-28G>A |
- |
IntronicSNV |
- |
10/15 |
2 |
4-89022646-T-C |
c.1278-175A>G |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89022757-G-T |
c.1278-286C>A |
- |
IntronicSNV |
- |
10/15 |
2 |
4-89023224-G-A |
c.1278-753C>T |
- |
IntronicSNV |
- |
10/15 |
5 |
4-89023515-C-A |
c.1278-1044G>T |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89023515-C-T |
c.1278-1044G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89023634-G-A |
c.1278-1163C>T |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89023704-C-T |
c.1278-1233G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89024220-G-A |
c.1278-1749C>T |
- |
IntronicSNV |
- |
10/15 |
2 |
4-89024378-T-C |
c.1278-1907A>G |
- |
IntronicSNV |
- |
10/15 |
2 |
4-89024708-T-A |
c.1278-2237A>T |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89024708-T-C |
c.1278-2237A>G |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89025026-A-C |
c.1278-2555T>G |
- |
IntronicSNV |
- |
10/15 |
2 |
4-89025112-C-T |
c.1278-2641G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89025113-G-A |
c.1278-2642C>T |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89025241-C-T |
c.1278-2770G>A |
- |
IntronicSNV |
- |
10/15 |
3 |
4-89025598-T-C |
c.1277+2738A>G |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89025667-G-A |
c.1277+2669C>T |
- |
IntronicSNV |
- |
10/15 |
2 |
4-89025815-G-GA |
c.1277+2520_1277+2521insT |
- |
IntronicInsertion |
- |
10/15 |
1 |
4-89025815-G-GAA |
c.1277+2520_1277+2521insTT |
- |
IntronicInsertion |
- |
10/15 |
1 |
4-89025816-G-A |
c.1277+2520C>T |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89025818-A-AG |
c.1277+2517_1277+2518insC |
- |
IntronicInsertion |
- |
10/15 |
2 |
4-89025882-G-A |
c.1277+2454C>T |
- |
IntronicSNV |
- |
10/15 |
2 |
4-89026007-A-G |
c.1277+2329T>C |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89026087-G-A |
c.1277+2249C>T |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89026109-C-T |
c.1277+2227G>A |
- |
IntronicSNV |
- |
10/15 |
10 |
4-89026242-C-T |
c.1277+2094G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89026407-A-G |
c.1277+1929T>C |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89026420-G-A |
c.1277+1916C>T |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89026428-A-C |
c.1277+1908T>G |
- |
IntronicSNV |
- |
10/15 |
6 |
4-89026490-C-T |
c.1277+1846G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89026493-C-G |
c.1277+1843G>C |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89026537-A-G |
c.1277+1799T>C |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89026630-A-G |
c.1277+1706T>C |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89026642-C-T |
c.1277+1694G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89027542-A-G |
c.1277+794T>C |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89027542-A-T |
c.1277+794T>A |
- |
IntronicSNV |
- |
10/15 |
1 |
4-89027840-G-C |
c.1277+496C>G |
- |
IntronicSNV |
- |
10/15 |
2 |
4-89028284-G-A |
c.1277+52C>T |
- |
IntronicSNV |
- |
10/15 |
2 |
4-89028336-C-G |
c.1277G>C |
p.R426T |
Missense |
10/16 |
- |
2 |
4-89028336-C-T |
c.1277G>A |
p.R426K |
Missense |
10/16 |
- |
2 |
4-89028336-CT-GC |
c.1276_1277delinsGC |
p.R426A |
Missense |
10/16 |
- |
1 |
4-89028336-CT-TC |
c.1276_1277delinsGA |
p.R426E |
Missense |
10/16 |
- |
1 |
4-89028338-G-A |
c.1275C>T |
p.N425= |
Synonymous |
10/16 |
- |
1 |
4-89028338-G-C |
c.1275C>G |
p.N425K |
Missense |
10/16 |
- |
1 |
4-89028338-G-T |
c.1275C>A |
p.N425K |
Missense |
10/16 |
- |
1 |
4-89028340-T-TA |
c.1272_1273insT |
p.N425* |
Nonsense |
10/16 |
- |
1 |
4-89028346-T-C |
c.1267A>G |
p.I423V |
Missense |
10/16 |
- |
2 |
4-89028350-A-C |
c.1263T>G |
p.T421= |
Synonymous |
10/16 |
- |
1 |
4-89028350-A-G |
c.1263T>C |
p.T421= |
Synonymous |
10/16 |
- |
2 |
4-89028350-A-T |
c.1263T>A |
p.T421= |
Synonymous |
10/16 |
- |
1 |
4-89028351-G-A |
c.1262C>T |
p.T421I |
Missense |
10/16 |
- |
1 |
4-89028351-G-C |
c.1262C>G |
p.T421S |
Missense |
10/16 |
- |
1 |
4-89028352-T-C |
c.1261A>G |
p.T421A |
Missense |
10/16 |
- |
6 |
4-89028354-G-A |
c.1259C>T |
p.S420F |
Missense |
10/16 |
- |
2 |
4-89028356-A-C |
c.1257T>G |
p.D419E |
Missense |
10/16 |
- |
1 |
4-89028356-A-T |
c.1257T>A |
p.D419E |
Missense |
10/16 |
- |
1 |
4-89028356-ATC-CTT |
c.1255_1257delinsAAG |
p.D419K |
Missense |
10/16 |
- |
1 |
4-89028358-C-A |
c.1255G>T |
p.D419Y |
Missense |
10/16 |
- |
1 |
4-89028358-C-T |
c.1255G>A |
p.D419N |
Missense |
10/16 |
- |
3 |
4-89028359-ATT-TTG |
c.1252_1254delinsCAA |
p.N418Q |
Missense |
10/16 |
- |
2 |
4-89028360-T-A |
c.1253A>T |
p.N418I |
Missense |
10/16 |
- |
2 |
4-89028360-T-C |
c.1253A>G |
p.N418S |
Missense |
10/16 |
- |
1 |
4-89028361-T-TA |
c.1251_1252insT |
p.N418* |
Nonsense |
10/16 |
- |
1 |
4-89028362-T-A |
c.1251A>T |
p.K417N |
Missense |
10/16 |
- |
1 |
4-89028362-T-G |
c.1251A>C |
p.K417N |
Missense |
10/16 |
- |
1 |
4-89028363-T-C |
c.1250A>G |
p.K417R |
Missense |
10/16 |
- |
1 |
4-89028364-T-A |
c.1249A>T |
p.K417* |
Nonsense |
10/16 |
- |
1 |
4-89028364-T-C |
c.1249A>G |
p.K417E |
Missense |
10/16 |
- |
1 |
4-89028359-A-AT |
c.1253dup |
p.N418Kfs*2 |
Frameshift |
10/16 |
- |
1 |
4-89028359-AT-A |
c.1253del |
p.N418Mfs*16 |
Frameshift |
10/16 |
- |
7 |
4-89028365-T-C |
c.1248A>G |
p.L416= |
Synonymous |
10/16 |
- |
1 |
4-89028366-A-G |
c.1247T>C |
p.L416P |
Missense |
10/16 |
- |
1 |
4-89028368-C-A |
c.1245G>T |
p.G415= |
Synonymous |
10/16 |
- |
1 |
4-89028369-C-T |
c.1244G>A |
p.G415E |
Missense |
10/16 |
- |
2 |
4-89028370-C-T |
c.1243G>A |
p.G415R |
Missense |
10/16 |
- |
1 |
4-89028374-G-A |
c.1239C>T |
p.Y413= |
Synonymous |
10/16 |
- |
1 |
4-89028375-T-G |
c.1238A>C |
p.Y413S |
Missense |
10/16 |
- |
1 |
4-89028380-G-A |
c.1233C>T |
p.A411= |
Synonymous |
10/16 |
- |
3 |
4-89028380-G-C |
c.1233C>G |
p.A411= |
Synonymous |
10/16 |
- |
1 |
4-89028380-G-T |
c.1233C>A |
p.A411= |
Synonymous |
10/16 |
- |
1 |
4-89028384-CC-AG |
c.1228_1229delinsCT |
p.G410L |
Missense |
10/16 |
- |
4 |
4-89028388-T-C |
c.1225A>G |
p.I409V |
Missense |
10/16 |
- |
1 |
4-89028388-T-G |
c.1225A>C |
p.I409L |
Missense |
10/16 |
- |
1 |
4-89028389-AAC-CAT |
c.1222_1224delinsATG |
p.V408M |
Missense |
10/16 |
- |
2 |
4-89028391-C-T |
c.1222G>A |
p.V408I |
Missense |
10/16 |
- |
1 |
4-89028396-CC-AG |
c.1216_1217delinsCT |
p.G406L |
Missense |
10/16 |
- |
2 |
4-89028397-C-G |
c.1216G>C |
p.G406R |
Missense |
10/16 |
- |
2 |
4-89028397-C-T |
c.1216G>A |
p.G406R |
Missense |
10/16 |
- |
6 |
4-89028399-AG-GC |
c.1213_1214delinsGC |
p.L405A |
Missense |
10/16 |
- |
1 |
4-89028400-G-T |
c.1213C>A |
p.L405M |
Missense |
10/16 |
- |
2 |
4-89028403-C-T |
c.1210G>A |
p.V404I |
Missense |
10/16 |
- |
2 |
4-89028404-G-A |
c.1209C>T |
p.V403= |
Synonymous |
10/16 |
- |
1 |
4-89028404-G-C |
c.1209C>G |
p.V403= |
Synonymous |
10/16 |
- |
1 |
4-89028408-G-C |
c.1205C>G |
p.T402R |
Missense |
10/16 |
- |
4 |
4-89028408-GT-AG |
c.1204_1205delinsCT |
p.T402L |
Missense |
10/16 |
- |
5 |
4-89028409-T-C |
c.1204A>G |
p.T402A |
Missense |
10/16 |
- |
5 |
4-89028413-A-T |
c.1200T>A |
p.I400= |
Synonymous |
10/16 |
- |
1 |
4-89028414-A-G |
c.1199T>C |
p.I400T |
Missense |
10/16 |
- |
1 |
4-89028416-G-A |
c.1197C>T |
p.I399= |
Synonymous |
10/16 |
- |
1 |
4-89028417-A-G |
c.1196T>C |
p.I399T |
Missense |
10/16 |
- |
1 |
4-89028417-AT-CA |
c.1195_1196delinsTG |
p.I399C |
Missense |
10/16 |
- |
1 |
4-89028478-T-A |
c.1195-60A>T |
- |
IntronicSNV |
- |
9/15 |
8 |
4-89028478-T-C |
c.1195-60A>G |
- |
IntronicSNV |
- |
9/15 |
8 |
4-89028490-A-G |
c.1195-72T>C |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89028542-C-T |
c.1195-124G>A |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89028544-A-C |
c.1195-126T>G |
- |
IntronicSNV |
- |
9/15 |
4 |
4-89028544-A-G |
c.1195-126T>C |
- |
IntronicSNV |
- |
9/15 |
4 |
4-89028578-C-G |
c.1195-160G>C |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89028775-A-G |
c.1195-357T>C |
- |
IntronicSNV |
- |
9/15 |
11 |
4-89028935-T-C |
c.1195-517A>G |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89028979-G-A |
c.1195-561C>T |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89029111-C-T |
c.1195-693G>A |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89029252-A-C |
c.1195-834T>G |
- |
IntronicSNV |
- |
9/15 |
9 |
4-89029335-A-G |
c.1195-917T>C |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89029361-C-T |
c.1195-943G>A |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89029364-G-A |
c.1195-946C>T |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89029511-T-TAA |
c.1195-1095_1195-1094dup |
- |
IntronicInsertion |
- |
9/15 |
1 |
4-89029511-T-TA |
c.1195-1094dup |
- |
IntronicInsertion |
- |
9/15 |
1 |
4-89029527-C-A |
c.1195-1109G>T |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89029717-A-G |
c.1195-1299T>C |
- |
IntronicSNV |
- |
9/15 |
2 |
4-89029866-G-A |
c.1195-1448C>T |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89029887-C-G |
c.1195-1469G>C |
- |
IntronicSNV |
- |
9/15 |
2 |
4-89030264-C-A |
c.1195-1846G>T |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89030841-T-C |
c.1195-2423A>G |
- |
IntronicSNV |
- |
9/15 |
17 |
4-89030841-T-G |
c.1195-2423A>C |
- |
IntronicSNV |
- |
9/15 |
17 |
4-89030920-C-A |
c.1195-2502G>T |
- |
IntronicSNV |
- |
9/15 |
14 |
4-89030920-C-G |
c.1195-2502G>C |
- |
IntronicSNV |
- |
9/15 |
14 |
4-89031313-C-T |
c.1195-2895G>A |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89031519-A-C |
c.1194+2936T>G |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89031519-A-G |
c.1194+2936T>C |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89031586-T-G |
c.1194+2869A>C |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89031974-AAA-TAT |
c.1194+2479_1194+2481delinsATA |
- |
IntronicBlockSubstitution |
- |
9/15 |
1 |
4-89031974-A-T |
c.1194+2481T>A |
- |
IntronicSNV |
- |
9/15 |
2 |
4-89031976-A-T |
c.1194+2479T>A |
- |
IntronicSNV |
- |
9/15 |
2 |
4-89031978-T-A |
c.1194+2477A>T |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89032679-T-A |
c.1194+1776A>T |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89032679-T-C |
c.1194+1776A>G |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89033280-C-A |
c.1194+1175G>T |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89033280-C-G |
c.1194+1175G>C |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89033280-C-T |
c.1194+1175G>A |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89033409-A-G |
c.1194+1046T>C |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89033527-T-C |
c.1194+928A>G |
- |
IntronicSNV |
- |
9/15 |
25 |
4-89033661-G-C |
c.1194+794C>G |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89033965-TA-T |
c.1194+489del |
- |
IntronicDeletion |
- |
9/15 |
1 |
4-89034119-G-T |
c.1194+336C>A |
- |
IntronicSNV |
- |
9/15 |
1 |
4-89034231-C-G |
c.1194+224G>C |
- |
IntronicSNV |
- |
9/15 |
2 |
4-89034455-C-T |
c.1194G>A |
p.Q398= |
Synonymous |
9/16 |
- |
1 |
4-89034456-T-C |
c.1193A>G |
p.Q398R |
Missense |
9/16 |
- |
1 |
4-89034456-TG-GC |
c.1192_1193delinsGC |
p.Q398A |
Missense |
9/16 |
- |
1 |
4-89034461-T-A |
c.1188A>T |
p.I396= |
Synonymous |
9/16 |
- |
1 |
4-89034461-T-G |
c.1188A>C |
p.I396= |
Synonymous |
9/16 |
- |
1 |
4-89034465-G-T |
c.1184C>A |
p.S395Y |
Missense |
9/16 |
- |
1 |
4-89034469-C-T |
c.1180G>A |
p.A394T |
Missense |
9/16 |
- |
3 |
4-89034471-T-C |
c.1178A>G |
p.Q393R |
Missense |
9/16 |
- |
1 |
4-89034472-G-A |
c.1177C>T |
p.Q393* |
Nonsense |
9/16 |
- |
1 |
4-89034472-G-T |
c.1177C>A |
p.Q393K |
Missense |
9/16 |
- |
5 |
4-89034473-G-A |
c.1176C>T |
p.P392= |
Synonymous |
9/16 |
- |
1 |
4-89034473-G-C |
c.1176C>G |
p.P392= |
Synonymous |
9/16 |
- |
1 |
4-89034473-G-T |
c.1176C>A |
p.P392= |
Synonymous |
9/16 |
- |
1 |
4-89034474-GG-CTCTT |
c.1174_1175delinsAAGAG |
p.P392delinsKS |
MultiAAMissense |
9/16 |
- |
1 |
4-89034475-G-C |
c.1174C>G |
p.P392A |
Missense |
9/16 |
- |
1 |
4-89034482-C-G |
c.1167G>C |
p.L389= |
Synonymous |
9/16 |
- |
1 |
4-89034482-C-T |
c.1167G>A |
p.L389= |
Synonymous |
9/16 |
- |
1 |
4-89034483-A-C |
c.1166T>G |
p.L389R |
Missense |
9/16 |
- |
1 |
4-89034483-A-G |
c.1166T>C |
p.L389P |
Missense |
9/16 |
- |
1 |
4-89034486-A-C |
c.1163T>G |
p.L388W |
Missense |
9/16 |
- |
1 |
4-89034488-GTT-CTC |
c.1159_1161delinsGAG |
p.N387E |
Missense |
9/16 |
- |
1 |
4-89034489-T-C |
c.1160A>G |
p.N387S |
Missense |
9/16 |
- |
1 |
4-89034489-T-G |
c.1160A>C |
p.N387T |
Missense |
9/16 |
- |
1 |
4-89034489-TT-GC |
c.1159_1160delinsGC |
p.N387A |
Missense |
9/16 |
- |
1 |
4-89034493-T-C |
c.1156A>G |
p.K386E |
Missense |
9/16 |
- |
1 |
4-89034494-G-T |
c.1155C>A |
p.F385L |
Missense |
9/16 |
- |
3 |
4-89034494-G-C |
c.1155C>G |
p.F385L |
Missense |
9/16 |
- |
2 |
4-89034496-A-G |
c.1153T>C |
p.F385L |
Missense |
9/16 |
- |
2 |
4-89034498-G-A |
c.1151C>T |
p.S384L |
Missense |
9/16 |
- |
2 |
4-89034500-ACG-CTC |
c.1147_1149delinsGAG |
p.R383E |
Missense |
9/16 |
- |
1 |
4-89034500-ACG-CTT |
c.1147_1149delinsAAG |
p.R383K |
Missense |
9/16 |
- |
2 |
4-89034501-CG-GC |
c.1147_1148delinsGC |
p.R383A |
Missense |
9/16 |
- |
4 |
4-89034501-C-T |
c.1148G>A |
p.R383H |
Missense |
9/16 |
- |
5 |
4-89034502-G-A |
c.1147C>T |
p.R383C |
Missense |
9/16 |
- |
8 |
4-89034502-G-C |
c.1147C>G |
p.R383G |
Missense |
9/16 |
- |
2 |
4-89034504-T-A |
c.1145A>T |
p.K382M |
Missense |
9/16 |
- |
1 |
4-89034504-T-C |
c.1145A>G |
p.K382R |
Missense |
9/16 |
- |
1 |
4-89034505-T-C |
c.1144A>G |
p.K382E |
Missense |
9/16 |
- |
1 |
4-89034506-G-A |
c.1143C>T |
p.S381= |
Synonymous |
9/16 |
- |
1 |
4-89034505-T-TG |
c.1143dup |
p.K382Qfs*10 |
Frameshift |
9/16 |
- |
1 |
4-89034507-G-A |
c.1142C>T |
p.S381F |
Missense |
9/16 |
- |
1 |
4-89034507-GA-TT |
c.1141_1142delinsAA |
p.S381N |
Missense |
9/16 |
- |
1 |
4-89034508-A-C |
c.1141T>G |
p.S381A |
Missense |
9/16 |
- |
1 |
4-89034511-C-G |
c.1138G>C |
p.V380L |
Missense |
9/16 |
- |
2 |
4-89034511-C-T |
c.1138G>A |
p.V380I |
Missense |
9/16 |
- |
3 |
4-89034513-C-A |
c.1136G>T |
p.W379L |
Missense |
9/16 |
- |
1 |
4-89034513-CA-GC |
c.1135_1136delinsGC |
p.W379A |
Missense |
9/16 |
- |
1 |
4-89034514-CAT-C |
c.1134_1135del |
p.W379Gfs*12 |
Frameshift |
9/16 |
- |
1 |
4-89034515-T-C |
c.1134A>G |
p.R378= |
Synonymous |
9/16 |
- |
1 |
4-89034516-C-T |
c.1133G>A |
p.R378K |
Missense |
9/16 |
- |
1 |
4-89034516-CT-TC |
c.1132_1133delinsGA |
p.R378E |
Missense |
9/16 |
- |
1 |
4-89034517-T-C |
c.1132A>G |
p.R378G |
Missense |
9/16 |
- |
1 |
4-89034520-G-A |
c.1129C>T |
p.L377F |
Missense |
9/16 |
- |
1 |
4-89034523-G-C |
c.1126C>G |
p.Q376E |
Missense |
9/16 |
- |
1 |
4-89034525-T-C |
c.1124A>G |
p.H375R |
Missense |
9/16 |
- |
2 |
4-89034525-T-G |
c.1124A>C |
p.H375P |
Missense |
9/16 |
- |
1 |
4-89034525-TG-GC |
c.1123_1124delinsGC |
p.H375A |
Missense |
9/16 |
- |
1 |
4-89034526-G-A |
c.1123C>T |
p.H375Y |
Missense |
9/16 |
- |
2 |
4-89034526-G-C |
c.1123C>G |
p.H375D |
Missense |
9/16 |
- |
1 |
4-89034528-CA-GC |
c.1120_1121delinsGC |
p.C374A |
Missense |
9/16 |
- |
2 |
4-89034530-G-T |
c.1119C>A |
p.F373L |
Missense |
9/16 |
- |
3 |
4-89034531-A-C |
c.1118T>G |
p.F373C |
Missense |
9/16 |
- |
9 |
4-89034534-G-A |
c.1115C>T |
p.S372F |
Missense |
9/16 |
- |
1 |
4-89034534-G-T |
c.1115C>A |
p.S372Y |
Missense |
9/16 |
- |
1 |
4-89034537-G-A |
c.1112C>T |
p.T371I |
Missense |
9/16 |
- |
1 |
4-89034536-GGT-G |
c.1111_1112del |
p.T371Lfs*20 |
Frameshift |
9/16 |
- |
2 |
4-89034541-T-C |
c.1108A>G |
p.T370A |
Missense |
9/16 |
- |
1 |
4-89034542-G-A |
c.1107C>T |
p.Y369= |
Synonymous |
9/16 |
- |
1 |
4-89034546-C-T |
c.1103G>A |
p.S368N |
Missense |
9/16 |
- |
1 |
4-89034548-G-A |
c.1101C>T |
p.I367= |
Synonymous |
9/16 |
- |
1 |
4-89034548-G-C |
c.1101C>G |
p.I367M |
Missense |
9/16 |
- |
1 |
4-89034549-A-G |
c.1100T>C |
p.I367T |
Missense |
9/16 |
- |
1 |
4-89034550-T-A |
c.1099A>T |
p.I367F |
Missense |
9/16 |
- |
3 |
4-89034551-C-T |
c.1098G>A |
p.E366= |
Synonymous |
9/16 |
- |
6 |
4-89034552-T-C |
c.1097A>G |
p.E366G |
Missense |
9/16 |
- |
2 |
4-89034553-C-G |
c.1096G>C |
p.E366Q |
Missense |
9/16 |
- |
1 |
4-89034555-T-C |
c.1094A>G |
p.K365R |
Missense |
9/16 |
- |
1 |
4-89034556-T-C |
c.1093A>G |
p.K365E |
Missense |
9/16 |
- |
3 |
4-89034556-T-G |
c.1093A>C |
p.K365Q |
Missense |
9/16 |
- |
1 |
4-89034558-A-T |
c.1091T>A |
p.F364Y |
Missense |
9/16 |
- |
1 |
4-89034557-G-C |
c.1092C>G |
p.F364L |
Missense |
9/16 |
- |
1 |
4-89034557-G-T |
c.1092C>A |
p.F364L |
Missense |
9/16 |
- |
1 |
4-89034559-A-G |
c.1090T>C |
p.F364L |
Missense |
9/16 |
- |
1 |
4-89034560-G-A |
c.1089C>T |
p.V363= |
Synonymous |
9/16 |
- |
1 |
4-89034560-G-C |
c.1089C>G |
p.V363= |
Synonymous |
9/16 |
- |
1 |
4-89034560-G-T |
c.1089C>A |
p.V363= |
Synonymous |
9/16 |
- |
1 |
4-89034563-TGT-GTC |
c.1084_1086delinsGAC |
p.T362D |
Missense |
9/16 |
- |
1 |
4-89034565-T-C |
c.1084A>G |
p.T362A |
Missense |
9/16 |
- |
3 |
4-89034566-G-A |
c.1083C>T |
p.I361= |
Synonymous |
9/16 |
- |
1 |
4-89034566-G-T |
c.1083C>A |
p.I361= |
Synonymous |
9/16 |
- |
2 |
4-89034569-C-A |
c.1080G>T |
p.K360N |
Missense |
9/16 |
- |
1 |
4-89034569-C-T |
c.1080G>A |
p.K360= |
Synonymous |
9/16 |
- |
3 |
4-89034572-C-A |
c.1077G>T |
p.K359N |
Missense |
9/16 |
- |
1 |
4-89034572-C-T |
c.1077G>A |
p.K359= |
Synonymous |
9/16 |
- |
1 |
4-89034573-T-C |
c.1076A>G |
p.K359R |
Missense |
9/16 |
- |
1 |
4-89034574-T-C |
c.1075A>G |
p.K359E |
Missense |
9/16 |
- |
1 |
4-89034576-T-C |
c.1073A>G |
p.K358R |
Missense |
9/16 |
- |
2 |
4-89034579-T-C |
c.1070A>G |
p.K357R |
Missense |
9/16 |
- |
1 |
4-89034579-TT-GC |
c.1069_1070delinsGC |
p.K357A |
Missense |
9/16 |
- |
1 |
4-89034567-ATCT-A |
c.1079_1081del |
p.K360del |
InFrameDeletion |
9/16 |
- |
10 |
4-89034582-T-G |
c.1067A>C |
p.E356A |
Missense |
9/16 |
- |
1 |
4-89034585-C-G |
c.1064G>C |
p.G355A |
Missense |
9/16 |
- |
2 |
4-89034587-C-T |
c.1062G>A |
p.G354= |
Synonymous |
9/16 |
- |
1 |
4-89034588-C-A |
c.1061G>T |
p.G354V |
Missense |
9/16 |
- |
2 |
4-89034588-C-G |
c.1061G>C |
p.G354A |
Missense |
9/16 |
- |
1 |
4-89034584-A-AC |
c.1064dup |
p.E356* |
Nonsense |
9/16 |
- |
1 |
4-89034589-C-A |
c.1060G>T |
p.G354W |
Missense |
9/16 |
- |
7 |
4-89034589-C-G |
c.1060G>C |
p.G354R |
Missense |
9/16 |
- |
3 |
4-89034589-C-T |
c.1060G>A |
p.G354R |
Missense |
9/16 |
- |
13 |
4-89034590-G-A |
c.1059C>T |
p.S353= |
Synonymous |
9/16 |
- |
5 |
4-89034590-G-C |
c.1059C>G |
p.S353= |
Synonymous |
9/16 |
- |
3 |
4-89034590-G-T |
c.1059C>A |
p.S353= |
Synonymous |
9/16 |
- |
3 |
4-89034592-A-C |
c.1057T>G |
p.S353A |
Missense |
9/16 |
- |
1 |
4-89034593-A-C |
c.1056T>G |
p.L352= |
Synonymous |
9/16 |
- |
2 |
4-89034593-A-G |
c.1056T>C |
p.L352= |
Synonymous |
9/16 |
- |
2 |
4-89034593-A-T |
c.1056T>A |
p.L352= |
Synonymous |
9/16 |
- |
3 |
4-89034594-AG-GC |
c.1054_1055delinsGC |
p.L352A |
Missense |
9/16 |
- |
1 |
4-89034595-G-A |
c.1054C>T |
p.L352F |
Missense |
9/16 |
- |
1 |
4-89034598-G-A |
c.1051C>T |
p.Q351* |
Nonsense |
9/16 |
- |
1 |
4-89034605-T-A |
c.1044A>T |
p.E348D |
Missense |
9/16 |
- |
1 |
4-89034607-C-A |
c.1042G>T |
p.E348* |
Nonsense |
9/16 |
- |
3 |
4-89034609-G-A |
c.1040C>T |
p.A347V |
Missense |
9/16 |
- |
1 |
4-89034611-T-G |
c.1038A>C |
p.K346N |
Missense |
9/16 |
- |
1 |
4-89034615-G-A |
c.1034C>T |
p.T345I |
Missense |
9/16 |
- |
1 |
4-89034615-G-C |
c.1034C>G |
p.T345R |
Missense |
9/16 |
- |
1 |
4-89034619-C-A |
c.1030G>T |
p.E344* |
Nonsense |
9/16 |
- |
1 |
4-89034620-T-A |
c.1029A>T |
p.K343N |
Missense |
9/16 |
- |
1 |
4-89034620-T-G |
c.1029A>C |
p.K343N |
Missense |
9/16 |
- |
2 |
4-89034621-T-C |
c.1028A>G |
p.K343R |
Missense |
9/16 |
- |
1 |
4-89034624-T-C |
c.1025A>G |
p.Y342C |
Missense |
9/16 |
- |
1 |
4-89034625-A-G |
c.1024T>C |
p.Y342H |
Missense |
9/16 |
- |
1 |
4-89034625-A-T |
c.1024T>A |
p.Y342N |
Missense |
9/16 |
- |
1 |
4-89034629-G-A |
c.1020C>T |
p.S340= |
Synonymous |
9/16 |
- |
1 |
4-89034629-G-C |
c.1020C>G |
p.S340= |
Synonymous |
9/16 |
- |
1 |
4-89034629-G-T |
c.1020C>A |
p.S340= |
Synonymous |
9/16 |
- |
2 |
4-89034630-G-A |
c.1019C>T |
p.S340F |
Missense |
9/16 |
- |
2 |
4-89034627-AAGG-A |
c.1019_1021del |
p.S340del |
InFrameDeletion |
9/16 |
- |
2 |
4-89034634-A-G |
c.1015T>C |
p.S339P |
Missense |
9/16 |
- |
1 |
4-89034635-G-A |
c.1014C>T |
p.N338= |
Synonymous |
9/16 |
- |
5 |
4-89034636-T-C |
c.1013A>G |
p.N338S |
Missense |
9/16 |
- |
1 |
4-89034636-T-G |
c.1013A>C |
p.N338T |
Missense |
9/16 |
- |
1 |
4-89034638-G-C |
c.1011C>G |
p.V337= |
Synonymous |
9/16 |
- |
1 |
4-89034639-A-C |
c.1010T>G |
p.V337G |
Missense |
9/16 |
- |
1 |
4-89034640-C-G |
c.1009G>C |
p.V337L |
Missense |
9/16 |
- |
1 |
4-89034641-A-C |
c.1008T>G |
p.Y336* |
Nonsense |
9/16 |
- |
1 |
4-89034641-A-T |
c.1008T>A |
p.Y336* |
Nonsense |
9/16 |
- |
1 |
4-89034643-A-C |
c.1006T>G |
p.Y336D |
Missense |
9/16 |
- |
2 |
4-89034644-A-C |
c.1005T>G |
p.I335M |
Missense |
9/16 |
- |
2 |
4-89034646-T-A |
c.1003A>T |
p.I335F |
Missense |
9/16 |
- |
1 |
4-89034647-C-A |
c.1002G>T |
p.E334D |
Missense |
9/16 |
- |
2 |
4-89034647-C-G |
c.1002G>C |
p.E334D |
Missense |
9/16 |
- |
1 |
4-89034648-T-C |
c.1001A>G |
p.E334G |
Missense |
9/16 |
- |
1 |
4-89034649-C-A |
c.1000G>T |
p.E334* |
Nonsense |
9/16 |
- |
12 |
4-89034649-C-T |
c.1000G>A |
p.E334K |
Missense |
9/16 |
- |
4 |
4-89034650-C-G |
c.999G>C |
p.A333= |
Synonymous |
9/16 |
- |
2 |
4-89034650-C-T |
c.999G>A |
p.A333= |
Synonymous |
9/16 |
- |
2 |
4-89034651-G-A |
c.998C>T |
p.A333V |
Missense |
9/16 |
- |
3 |
4-89034656-T-A |
c.993A>T |
p.K331N |
Missense |
9/16 |
- |
2 |
4-89034656-T-G |
c.993A>C |
p.K331N |
Missense |
9/16 |
- |
2 |
4-89034657-T-A |
c.992A>T |
p.K331I |
Missense |
9/16 |
- |
1 |
4-89034661-C-T |
c.988G>A |
p.E330K |
Missense |
9/16 |
- |
1 |
4-89034663-A-G |
c.986T>C |
p.I329T |
Missense |
9/16 |
- |
1 |
4-89034664-T-A |
c.985A>T |
p.I329L |
Missense |
9/16 |
- |
1 |
4-89034664-T-C |
c.985A>G |
p.I329V |
Missense |
9/16 |
- |
1 |
4-89034670-G-A |
c.979C>T |
p.P327S |
Missense |
9/16 |
- |
1 |
4-89034670-G-C |
c.979C>G |
p.P327A |
Missense |
9/16 |
- |
1 |
4-89034671-C-T |
c.978G>A |
p.K326= |
Synonymous |
9/16 |
- |
1 |
4-89034674-A-C |
c.975T>G |
p.D325E |
Missense |
9/16 |
- |
1 |
4-89034674-A-T |
c.975T>A |
p.D325E |
Missense |
9/16 |
- |
1 |
4-89034675-T-C |
c.974A>G |
p.D325G |
Missense |
9/16 |
- |
1 |
4-89034676-C-T |
c.973G>A |
p.D325N |
Missense |
9/16 |
- |
2 |
4-89034677-C-A |
c.972G>T |
p.Q324H |
Missense |
9/16 |
- |
1 |
4-89034680-C-T |
c.969G>A |
p.K323= |
Synonymous |
9/16 |
- |
1 |
4-89034682-T-C |
c.967A>G |
p.K323E |
Missense |
9/16 |
- |
1 |
4-89034684-G-T |
c.965C>A |
p.S322Y |
Missense |
9/16 |
- |
1 |
4-89034687-G-A |
c.962C>T |
p.P321L |
Missense |
9/16 |
- |
1 |
4-89034689-C-A |
c.960G>T |
p.E320D |
Missense |
9/16 |
- |
1 |
4-89034689-C-G |
c.960G>C |
p.E320D |
Missense |
9/16 |
- |
1 |
4-89034689-C-T |
c.960G>A |
p.E320= |
Synonymous |
9/16 |
- |
1 |
4-89034692-T-C |
c.957A>G |
p.I319M |
Missense |
9/16 |
- |
1 |
4-89034697-T-C |
c.952A>G |
p.I318V |
Missense |
9/16 |
- |
1 |
4-89034698-C-T |
c.951G>A |
p.E317= |
Synonymous |
9/16 |
- |
1 |
4-89034701-CTGT-C |
c.946_948del |
p.T316del |
InFrameDeletion |
9/16 |
- |
1 |
4-89034703-T-G |
c.946A>C |
p.T316P |
Missense |
9/16 |
- |
1 |
4-89034705-G-A |
c.944C>T |
p.A315V |
Missense |
9/16 |
- |
3 |
4-89034705-G-T |
c.944C>A |
p.A315D |
Missense |
9/16 |
- |
1 |
4-89034847-G-C |
c.944-142C>G |
- |
IntronicSNV |
- |
8/15 |
1 |
4-89035198-T-C |
c.944-493A>G |
- |
IntronicSNV |
- |
8/15 |
1 |
4-89035264-G-A |
c.944-559C>T |
- |
IntronicSNV |
- |
8/15 |
1 |
4-89035507-G-A |
c.943+602C>T |
- |
IntronicSNV |
- |
8/15 |
1 |
4-89035563-G-C |
c.943+546C>G |
- |
IntronicSNV |
- |
8/15 |
1 |
4-89036107-A-G |
c.943+2T>C |
- |
IntronicSNV |
- |
8/15 |
1 |
4-89036109-C-T |
c.943G>A |
p.A315T |
Missense |
8/16 |
- |
3 |
4-89036110-T-G |
c.942A>C |
p.K314N |
Missense |
8/16 |
- |
1 |
4-89036111-T-C |
c.941A>G |
p.K314R |
Missense |
8/16 |
- |
1 |
4-89036115-A-C |
c.937T>G |
p.F313V |
Missense |
8/16 |
- |
1 |
4-89036116-G-A |
c.936C>T |
p.D312= |
Synonymous |
8/16 |
- |
3 |
4-89036116-G-C |
c.936C>G |
p.D312E |
Missense |
8/16 |
- |
3 |
4-89036117-T-C |
c.935A>G |
p.D312G |
Missense |
8/16 |
- |
1 |
4-89036118-C-A |
c.934G>T |
p.D312Y |
Missense |
8/16 |
- |
2 |
4-89036118-C-G |
c.934G>C |
p.D312H |
Missense |
8/16 |
- |
1 |
4-89036118-C-T |
c.934G>A |
p.D312N |
Missense |
8/16 |
- |
1 |
4-89036121-C-T |
c.931G>A |
p.E311K |
Missense |
8/16 |
- |
1 |
4-89036122-T-C |
c.930A>G |
p.E310= |
Synonymous |
8/16 |
- |
2 |
4-89036124-C-T |
c.928G>A |
p.E310K |
Missense |
8/16 |
- |
2 |
4-89036126-C-T |
c.926G>A |
p.R309K |
Missense |
8/16 |
- |
1 |
4-89036126-CT-GC |
c.925_926delinsGC |
p.R309A |
Missense |
8/16 |
- |
1 |
4-89036127-T-C |
c.925A>G |
p.R309G |
Missense |
8/16 |
- |
1 |
4-89036130-T-G |
c.922A>C |
p.N308H |
Missense |
8/16 |
- |
1 |
4-89036132-A-G |
c.920T>C |
p.L307S |
Missense |
8/16 |
- |
1 |
4-89036136-C-A |
c.916G>T |
p.A306S |
Missense |
8/16 |
- |
1 |
4-89036136-C-T |
c.916G>A |
p.A306T |
Missense |
8/16 |
- |
1 |
4-89036137-C-T |
c.915G>A |
p.V305= |
Synonymous |
8/16 |
- |
1 |
4-89036141-G-A |
c.911C>T |
p.A304V |
Missense |
8/16 |
- |
1 |
4-89036141-G-T |
c.911C>A |
p.A304D |
Missense |
8/16 |
- |
1 |
4-89036144-G-A |
c.908C>T |
p.T303I |
Missense |
8/16 |
- |
1 |
4-89036145-T-C |
c.907A>G |
p.T303A |
Missense |
8/16 |
- |
1 |
4-89036146-G-T |
c.906C>A |
p.S302= |
Synonymous |
8/16 |
- |
1 |
4-89036147-GA-AT |
c.904_905delinsAT |
p.S302I |
Missense |
8/16 |
- |
1 |
4-89036147-G-T |
c.905C>A |
p.S302Y |
Missense |
8/16 |
- |
1 |
4-89036148-A-G |
c.904T>C |
p.S302P |
Missense |
8/16 |
- |
2 |
4-89036149-A-G |
c.903T>C |
p.D301= |
Synonymous |
8/16 |
- |
1 |
4-89036150-T-A |
c.902A>T |
p.D301V |
Missense |
8/16 |
- |
1 |
4-89036155-A-C |
c.897T>G |
p.N299K |
Missense |
8/16 |
- |
3 |
4-89036155-A-T |
c.897T>A |
p.N299K |
Missense |
8/16 |
- |
1 |
4-89036156-T-C |
c.896A>G |
p.N299S |
Missense |
8/16 |
- |
1 |
4-89036160-T-C |
c.892A>G |
p.I298V |
Missense |
8/16 |
- |
1 |
4-89036161-G-A |
c.891C>T |
p.I297= |
Synonymous |
8/16 |
- |
3 |
4-89036161-G-C |
c.891C>G |
p.I297M |
Missense |
8/16 |
- |
3 |
4-89036161-G-T |
c.891C>A |
p.I297= |
Synonymous |
8/16 |
- |
1 |
4-89036163-T-C |
c.889A>G |
p.I297V |
Missense |
8/16 |
- |
1 |
4-89036166-C-G |
c.886G>C |
p.D296H |
Missense |
8/16 |
- |
14 |
4-89036168-A-G |
c.884T>C |
p.L295S |
Missense |
8/16 |
- |
1 |
4-89036169-A-G |
c.883T>C |
p.L295= |
Synonymous |
8/16 |
- |
1 |
4-89036171-A-G |
c.881T>C |
p.F294S |
Missense |
8/16 |
- |
1 |
4-89036170-G-C |
c.882C>G |
p.F294L |
Missense |
8/16 |
- |
2 |
4-89036170-G-T |
c.882C>A |
p.F294L |
Missense |
8/16 |
- |
1 |
4-89036172-A-G |
c.880T>C |
p.F294L |
Missense |
8/16 |
- |
1 |
4-89036176-G-A |
c.876C>T |
p.D292= |
Synonymous |
8/16 |
- |
1 |
4-89036176-G-C |
c.876C>G |
p.D292E |
Missense |
8/16 |
- |
1 |
4-89036176-GTC-CTT |
c.874_876delinsAAG |
p.D292K |
Missense |
8/16 |
- |
1 |
4-89036177-T-C |
c.875A>G |
p.D292G |
Missense |
8/16 |
- |
1 |
4-89036177-T-G |
c.875A>C |
p.D292A |
Missense |
8/16 |
- |
1 |
4-89036181-C-T |
c.871G>A |
p.A291T |
Missense |
8/16 |
- |
1 |
4-89036182-A-G |
c.870T>C |
p.P290= |
Synonymous |
8/16 |
- |
1 |
4-89036183-G-A |
c.869C>T |
p.P290L |
Missense |
8/16 |
- |
1 |
4-89036184-G-A |
c.868C>T |
p.P290S |
Missense |
8/16 |
- |
1 |
4-89036184-G-C |
c.868C>G |
p.P290A |
Missense |
8/16 |
- |
1 |
4-89036184-G-T |
c.868C>A |
p.P290T |
Missense |
8/16 |
- |
1 |
4-89036185-G-A |
c.867C>T |
p.N289= |
Synonymous |
8/16 |
- |
1 |
4-89036185-G-T |
c.867C>A |
p.N289K |
Missense |
8/16 |
- |
1 |
4-89036188-A-G |
c.864T>C |
p.N288= |
Synonymous |
8/16 |
- |
1 |
4-89036189-TT-GC |
c.862_863delinsGC |
p.N288A |
Missense |
8/16 |
- |
1 |
4-89036190-T-C |
c.862A>G |
p.N288D |
Missense |
8/16 |
- |
1 |
4-89036191-A-G |
c.861T>C |
p.Y287= |
Synonymous |
8/16 |
- |
1 |
4-89036192-T-C |
c.860A>G |
p.Y287C |
Missense |
8/16 |
- |
1 |
4-89036192-T-G |
c.860A>C |
p.Y287S |
Missense |
8/16 |
- |
1 |
4-89036193-A-G |
c.859T>C |
p.Y287H |
Missense |
8/16 |
- |
2 |
4-89036195-G-A |
c.857C>T |
p.A286V |
Missense |
8/16 |
- |
1 |
4-89036196-C-T |
c.856G>A |
p.A286T |
Missense |
8/16 |
- |
1 |
4-89036197-C-T |
c.855G>A |
p.E285= |
Synonymous |
8/16 |
- |
3 |
4-89036198-T-A |
c.854A>T |
p.E285V |
Missense |
8/16 |
- |
1 |
4-89036198-T-G |
c.854A>C |
p.E285A |
Missense |
8/16 |
- |
2 |
4-89036199-C-T |
c.853G>A |
p.E285K |
Missense |
8/16 |
- |
3 |
4-89036201-CA-GC |
c.850_851delinsGC |
p.C284A |
Missense |
8/16 |
- |
1 |
4-89036201-C-G |
c.851G>C |
p.C284S |
Missense |
8/16 |
- |
2 |
4-89036202-A-T |
c.850T>A |
p.C284S |
Missense |
8/16 |
- |
2 |
4-89036209-A-G |
c.843T>C |
p.G281= |
Synonymous |
8/16 |
- |
1 |
4-89036210-C-A |
c.842G>T |
p.G281V |
Missense |
8/16 |
- |
2 |
4-89036210-C-T |
c.842G>A |
p.G281D |
Missense |
8/16 |
- |
2 |
4-89036353-C-T |
c.842-143G>A |
- |
IntronicSNV |
- |
7/15 |
8 |
4-89036400-C-G |
c.842-190G>C |
- |
IntronicSNV |
- |
7/15 |
2 |
4-89036410-A-C |
c.842-200T>G |
- |
IntronicSNV |
- |
7/15 |
1 |
4-89036412-A-C |
c.842-202T>G |
- |
IntronicSNV |
- |
7/15 |
1 |
4-89036436-A-T |
c.842-226T>A |
- |
IntronicSNV |
- |
7/15 |
1 |
4-89037278-T-C |
c.842-1068A>G |
- |
IntronicSNV |
- |
7/15 |
2 |
4-89037618-G-A |
c.842-1408C>T |
- |
IntronicSNV |
- |
7/15 |
2 |
4-89038140-G-A |
c.841+1121C>T |
- |
IntronicSNV |
- |
7/15 |
1 |
4-89038489-C-A |
c.841+772G>T |
- |
IntronicSNV |
- |
7/15 |
1 |
4-89038489-C-T |
c.841+772G>A |
- |
IntronicSNV |
- |
7/15 |
1 |
4-89038539-C-T |
c.841+722G>A |
- |
IntronicSNV |
- |
7/15 |
1 |
4-89039082-A-G |
c.841+179T>C |
- |
IntronicSNV |
- |
7/15 |
51 |
4-89039243-T-C |
c.841+18A>G |
- |
IntronicSNV |
- |
7/15 |
3 |
4-89039261-C-T |
c.841G>A |
p.G281S |
Missense |
7/16 |
- |
1 |
4-89039263-G-T |
c.839C>A |
p.A280D |
Missense |
7/16 |
- |
1 |
4-89039265-T-G |
c.837A>C |
p.S279= |
Synonymous |
7/16 |
- |
1 |
4-89039269-TC-GA |
c.832_833inv |
p.E278S |
Missense |
7/16 |
- |
2 |
4-89039269-T-G |
c.833A>C |
p.E278A |
Missense |
7/16 |
- |
2 |
4-89039270-C-T |
c.832G>A |
p.E278K |
Missense |
7/16 |
- |
1 |
4-89039271-A-G |
c.831T>C |
p.F277= |
Synonymous |
7/16 |
- |
1 |
4-89039273-A-C |
c.829T>G |
p.F277V |
Missense |
7/16 |
- |
2 |
4-89039273-A-G |
c.829T>C |
p.F277L |
Missense |
7/16 |
- |
1 |
4-89039275-T-A |
c.827A>T |
p.Y276F |
Missense |
7/16 |
- |
1 |
4-89039275-T-C |
c.827A>G |
p.Y276C |
Missense |
7/16 |
- |
2 |
4-89039278-C-A |
c.824G>T |
p.G275V |
Missense |
7/16 |
- |
1 |
4-89039279-C-G |
c.823G>C |
p.G275R |
Missense |
7/16 |
- |
3 |
4-89039279-C-T |
c.823G>A |
p.G275R |
Missense |
7/16 |
- |
2 |
4-89039282-A-G |
c.820T>C |
p.L274= |
Synonymous |
7/16 |
- |
1 |
4-89039283-G-A |
c.819C>T |
p.A273= |
Synonymous |
7/16 |
- |
1 |
4-89039283-G-C |
c.819C>G |
p.A273= |
Synonymous |
7/16 |
- |
1 |
4-89039283-G-T |
c.819C>A |
p.A273= |
Synonymous |
7/16 |
- |
1 |
4-89039285-C-A |
c.817G>T |
p.A273S |
Missense |
7/16 |
- |
1 |
4-89039285-C-T |
c.817G>A |
p.A273T |
Missense |
7/16 |
- |
1 |
4-89039286-C-G |
c.816G>C |
p.E272D |
Missense |
7/16 |
- |
1 |
4-89039290-T-C |
c.812A>G |
p.Q271R |
Missense |
7/16 |
- |
1 |
4-89039291-G-A |
c.811C>T |
p.Q271* |
Nonsense |
7/16 |
- |
1 |
4-89039291-G-C |
c.811C>G |
p.Q271E |
Missense |
7/16 |
- |
2 |
4-89039292-A-C |
c.810T>G |
p.A270= |
Synonymous |
7/16 |
- |
1 |
4-89039292-A-G |
c.810T>C |
p.A270= |
Synonymous |
7/16 |
- |
1 |
4-89039292-A-T |
c.810T>A |
p.A270= |
Synonymous |
7/16 |
- |
1 |
4-89039292-GA-G |
c.810del |
p.Q271Rfs*37 |
Frameshift |
7/16 |
- |
1 |
4-89039294-C-A |
c.808G>T |
p.A270S |
Missense |
7/16 |
- |
4 |
4-89039294-C-T |
c.808G>A |
p.A270T |
Missense |
7/16 |
- |
2 |
4-89039296-G-A |
c.806C>T |
p.P269L |
Missense |
7/16 |
- |
1 |
4-89039297-G-A |
c.805C>T |
p.P269S |
Missense |
7/16 |
- |
11 |
4-89039299-C-T |
c.803G>A |
p.G268E |
Missense |
7/16 |
- |
1 |
4-89039300-C-A |
c.802G>T |
p.G268W |
Missense |
7/16 |
- |
1 |
4-89039300-C-G |
c.802G>C |
p.G268R |
Missense |
7/16 |
- |
3 |
4-89039300-C-T |
c.802G>A |
p.G268R |
Missense |
7/16 |
- |
5 |
4-89039301-G-A |
c.801C>T |
p.H267= |
Synonymous |
7/16 |
- |
1 |
4-89039301-G-C |
c.801C>G |
p.H267Q |
Missense |
7/16 |
- |
1 |
4-89039301-G-T |
c.801C>A |
p.H267Q |
Missense |
7/16 |
- |
1 |
4-89039302-T-C |
c.800A>G |
p.H267R |
Missense |
7/16 |
- |
1 |
4-89039304-G-A |
c.798C>T |
p.F266= |
Synonymous |
7/16 |
- |
1 |
4-89039307-C-T |
c.795G>A |
p.M265I |
Missense |
7/16 |
- |
1 |
4-89039308-A-C |
c.794T>G |
p.M265R |
Missense |
7/16 |
- |
1 |
4-89039309-T-C |
c.793A>G |
p.M265V |
Missense |
7/16 |
- |
2 |
4-89039310-TAA-T |
c.791_792del |
p.L264Hfs*14 |
Frameshift |
7/16 |
- |
5 |
4-89039311-A-C |
c.791T>G |
p.L264R |
Missense |
7/16 |
- |
2 |
4-89039311-A-G |
c.791T>C |
p.L264P |
Missense |
7/16 |
- |
2 |
4-89039312-G-A |
c.790C>T |
p.L264F |
Missense |
7/16 |
- |
1 |
4-89039312-G-C |
c.790C>G |
p.L264V |
Missense |
7/16 |
- |
1 |
4-89039312-G-T |
c.790C>A |
p.L264I |
Missense |
7/16 |
- |
1 |
4-89039313-T-C |
c.789A>G |
p.R263= |
Synonymous |
7/16 |
- |
1 |
4-89039315-T-G |
c.787A>C |
p.R263= |
Synonymous |
7/16 |
- |
1 |
4-89039316-T-A |
c.786A>T |
p.G262= |
Synonymous |
7/16 |
- |
1 |
4-89039317-C-T |
c.785G>A |
p.G262E |
Missense |
7/16 |
- |
8 |
4-89039318-C-A |
c.784G>T |
p.G262* |
Nonsense |
7/16 |
- |
6 |
4-89039320-G-A |
c.782C>T |
p.S261L |
Missense |
7/16 |
- |
3 |
4-89039320-G-C |
c.782C>G |
p.S261* |
Nonsense |
7/16 |
- |
3 |
4-89039320-G-T |
c.782C>A |
p.S261* |
Nonsense |
7/16 |
- |
2 |
4-89039325-C-T |
c.777G>A |
p.L259= |
Synonymous |
7/16 |
- |
2 |
4-89039327-A-G |
c.775T>C |
p.L259= |
Synonymous |
7/16 |
- |
3 |
4-89039328-T-A |
c.774A>T |
p.L258F |
Missense |
7/16 |
- |
1 |
4-89039329-AAGGTGAGGCTATCAAACAACTTGAAG-A |
c.747_772del |
p.F250Ifs*20 |
Frameshift |
7/16 |
- |
1 |
4-89039332-G-A |
c.770C>T |
p.T257I |
Missense |
7/16 |
- |
3 |
4-89039332-G-T |
c.770C>A |
p.T257N |
Missense |
7/16 |
- |
1 |
4-89039333-T-G |
c.769A>C |
p.T257P |
Missense |
7/16 |
- |
2 |
4-89039336-G-A |
c.766C>T |
p.L256F |
Missense |
7/16 |
- |
3 |
4-89039337-G-A |
c.765C>T |
p.S255= |
Synonymous |
7/16 |
- |
1 |
4-89039337-G-T |
c.765C>A |
p.S255R |
Missense |
7/16 |
- |
1 |
4-89039338-C-G |
c.764G>C |
p.S255T |
Missense |
7/16 |
- |
1 |
4-89039340-A-G |
c.762T>C |
p.D254= |
Synonymous |
7/16 |
- |
1 |
4-89039342-C-G |
c.760G>C |
p.D254H |
Missense |
7/16 |
- |
1 |
4-89039344-A-G |
c.758T>C |
p.F253S |
Missense |
7/16 |
- |
1 |
4-89039348-A-G |
c.754T>C |
p.L252= |
Synonymous |
7/16 |
- |
1 |
4-89039350-T-C |
c.752A>G |
p.K251R |
Missense |
7/16 |
- |
1 |
4-89039353-A-C |
c.749T>G |
p.F250C |
Missense |
7/16 |
- |
1 |
4-89039355-G-C |
c.747C>G |
p.I249M |
Missense |
7/16 |
- |
1 |
4-89039357-T-A |
c.745A>T |
p.I249F |
Missense |
7/16 |
- |
1 |
4-89039357-T-C |
c.745A>G |
p.I249V |
Missense |
7/16 |
- |
4 |
4-89039359-G-C |
c.743C>G |
p.S248C |
Missense |
7/16 |
- |
2 |
4-89039360-A-C |
c.742T>G |
p.S248A |
Missense |
7/16 |
- |
6 |
4-89039360-A-G |
c.742T>C |
p.S248P |
Missense |
7/16 |
- |
21 |
4-89039360-A-T |
c.742T>A |
p.S248T |
Missense |
7/16 |
- |
1 |
4-89039362-TA-GC |
c.739_740delinsGC |
p.Y247A |
Missense |
7/16 |
- |
1 |
4-89039362-T-C |
c.740A>G |
p.Y247C |
Missense |
7/16 |
- |
2 |
4-89039363-A-G |
c.739T>C |
p.Y247H |
Missense |
7/16 |
- |
1 |
4-89039364-T-C |
c.738A>G |
p.R246= |
Synonymous |
7/16 |
- |
1 |
4-89039365-C-A |
c.737G>T |
p.R246L |
Missense |
7/16 |
- |
1 |
4-89039365-CG-TT |
c.736_737delinsAA |
p.R246K |
Missense |
7/16 |
- |
1 |
4-89039365-C-T |
c.737G>A |
p.R246Q |
Missense |
7/16 |
- |
4 |
4-89039366-G-A |
c.736C>T |
p.R246* |
Nonsense |
7/16 |
- |
9 |
4-89039368-G-C |
c.734C>G |
p.P245R |
Missense |
7/16 |
- |
4 |
4-89039369-G-T |
c.733C>A |
p.P245T |
Missense |
7/16 |
- |
1 |
4-89039372-G-A |
c.730C>T |
p.Q244* |
Nonsense |
7/16 |
- |
6 |
4-89039373-A-T |
c.729T>A |
p.H243Q |
Missense |
7/16 |
- |
1 |
4-89039374-T-C |
c.728A>G |
p.H243R |
Missense |
7/16 |
- |
2 |
4-89039374-T-G |
c.728A>C |
p.H243P |
Missense |
7/16 |
- |
3 |
4-89039374-TG-GC |
c.727_728delinsGC |
p.H243A |
Missense |
7/16 |
- |
1 |
4-89039377-A-G |
c.725T>C |
p.I242T |
Missense |
7/16 |
- |
4 |
4-89039379-G-A |
c.723C>T |
p.S241= |
Synonymous |
7/16 |
- |
3 |
4-89039380-G-A |
c.722C>T |
p.S241F |
Missense |
7/16 |
- |
2 |
4-89039380-G-C |
c.722C>G |
p.S241C |
Missense |
7/16 |
- |
1 |
4-89039383-A-T |
c.719T>A |
p.F240Y |
Missense |
7/16 |
- |
1 |
4-89039385-G-A |
c.717C>T |
p.I239= |
Synonymous |
7/16 |
- |
2 |
4-89039385-G-T |
c.717C>A |
p.I239= |
Synonymous |
7/16 |
- |
2 |
4-89039388-G-A |
c.714C>T |
p.I238= |
Synonymous |
7/16 |
- |
1 |
4-89039388-G-T |
c.714C>A |
p.I238= |
Synonymous |
7/16 |
- |
1 |
4-89039391-T-G |
c.711A>C |
p.T237= |
Synonymous |
7/16 |
- |
1 |
4-89039394-TC-AT |
c.707_708delinsAT |
p.R236H |
Missense |
7/16 |
- |
1 |
4-89039395-C-T |
c.707G>A |
p.R236Q |
Missense |
7/16 |
- |
2 |
4-89039396-G-A |
c.706C>T |
p.R236* |
Nonsense |
7/16 |
- |
16 |
4-89039396-G-T |
c.706C>A |
p.R236= |
Synonymous |
7/16 |
- |
4 |
4-89039397-TC-GT |
c.704_705delinsAC |
p.G235D |
Missense |
7/16 |
- |
1 |
4-89039398-C-A |
c.704G>T |
p.G235V |
Missense |
7/16 |
- |
1 |
4-89039399-C-A |
c.703G>T |
p.G235* |
Nonsense |
7/16 |
- |
1 |
4-89039399-C-G |
c.703G>C |
p.G235R |
Missense |
7/16 |
- |
1 |
4-89039399-C-T |
c.703G>A |
p.G235R |
Missense |
7/16 |
- |
4 |
4-89039401-T-C |
c.701A>G |
p.Q234R |
Missense |
7/16 |
- |
2 |
4-89039406-A-G |
c.696T>C |
p.S232= |
Synonymous |
7/16 |
- |
1 |
4-89039411-T-A |
c.691A>T |
p.M231L |
Missense |
7/16 |
- |
1 |
4-89039411-T-G |
c.691A>C |
p.M231L |
Missense |
7/16 |
- |
1 |
4-89039412-C-T |
c.690G>A |
p.R230= |
Synonymous |
7/16 |
- |
1 |
4-89042788-T-G |
c.688A>C |
p.R230= |
Synonymous |
6/16 |
- |
1 |
4-89039413-C-T |
c.690-1G>A |
- |
IntronicSNV |
- |
6/15 |
2 |
4-89039500-T-C |
c.690-88A>G |
- |
IntronicSNV |
- |
6/15 |
4 |
4-89039584-T-C |
c.690-172A>G |
- |
IntronicSNV |
- |
6/15 |
2 |
4-89039629-T-C |
c.690-217A>G |
- |
IntronicSNV |
- |
6/15 |
13 |
4-89040768-G-GTTT |
c.690-1359_690-1357dup |
- |
IntronicInsertion |
- |
6/15 |
1 |
4-89040850-A-G |
c.690-1438T>C |
- |
IntronicSNV |
- |
6/15 |
1 |
4-89041296-A-G |
c.689+1491T>C |
- |
IntronicSNV |
- |
6/15 |
2 |
4-89041399-T-C |
c.689+1388A>G |
- |
IntronicSNV |
- |
6/15 |
1 |
4-89041878-C-T |
c.689+909G>A |
- |
IntronicSNV |
- |
6/15 |
1 |
4-89042206-T-C |
c.689+581A>G |
- |
IntronicSNV |
- |
6/15 |
1 |
4-89042786-C-T |
c.689+1G>A |
- |
IntronicSNV |
- |
6/15 |
1 |
4-89042788-T-C |
c.688A>G |
p.R230G |
Missense |
6/16 |
- |
1 |
4-89042791-T-C |
c.685A>G |
p.K229E |
Missense |
6/16 |
- |
1 |
4-89042795-G-T |
c.681C>A |
p.L227= |
Synonymous |
6/16 |
- |
1 |
4-89042796-A-T |
c.680T>A |
p.L227H |
Missense |
6/16 |
- |
1 |
4-89042803-G-A |
c.673C>T |
p.L225F |
Missense |
6/16 |
- |
2 |
4-89042803-G-T |
c.673C>A |
p.L225I |
Missense |
6/16 |
- |
2 |
4-89042804-GA-CT |
c.671_672delinsAG |
p.V224E |
Missense |
6/16 |
- |
1 |
4-89042806-C-T |
c.670G>A |
p.V224I |
Missense |
6/16 |
- |
1 |
4-89042809-C-T |
c.667G>A |
p.A223T |
Missense |
6/16 |
- |
3 |
4-89042811-T-C |
c.665A>G |
p.N222S |
Missense |
6/16 |
- |
1 |
4-89042814-G-C |
c.662C>G |
p.A221G |
Missense |
6/16 |
- |
1 |
4-89042815-C-T |
c.661G>A |
p.A221T |
Missense |
6/16 |
- |
4 |
4-89042817-G-A |
c.659C>T |
p.T220I |
Missense |
6/16 |
- |
2 |
4-89042817-G-C |
c.659C>G |
p.T220R |
Missense |
6/16 |
- |
2 |
4-89042819-G-T |
c.657C>A |
p.S219R |
Missense |
6/16 |
- |
2 |
4-89042820-C-G |
c.656G>C |
p.S219T |
Missense |
6/16 |
- |
1 |
4-89042820-C-T |
c.656G>A |
p.S219N |
Missense |
6/16 |
- |
1 |
4-89042821-T-A |
c.655A>T |
p.S219C |
Missense |
6/16 |
- |
1 |
4-89042821-T-C |
c.655A>G |
p.S219G |
Missense |
6/16 |
- |
2 |
4-89042822-T-A |
c.654A>T |
p.S218= |
Synonymous |
6/16 |
- |
1 |
4-89042822-T-C |
c.654A>G |
p.S218= |
Synonymous |
6/16 |
- |
1 |
4-89042822-T-G |
c.654A>C |
p.S218= |
Synonymous |
6/16 |
- |
1 |
4-89042823-G-A |
c.653C>T |
p.S218L |
Missense |
6/16 |
- |
1 |
4-89042823-TG-T |
c.653del |
p.S218* |
Frameshift |
6/16 |
- |
1 |
4-89042826-T-A |
c.650A>T |
p.D217V |
Missense |
6/16 |
- |
1 |
4-89042827-C-A |
c.649G>T |
p.D217Y |
Missense |
6/16 |
- |
2 |
4-89042828-T-A |
c.648A>T |
p.L216F |
Missense |
6/16 |
- |
2 |
4-89042828-T-G |
c.648A>C |
p.L216F |
Missense |
6/16 |
- |
2 |
4-89042829-A-C |
c.647T>G |
p.L216* |
Nonsense |
6/16 |
- |
1 |
4-89042829-A-T |
c.647T>A |
p.L216* |
Nonsense |
6/16 |
- |
1 |
4-89042833-C-T |
c.643G>A |
p.G215S |
Missense |
6/16 |
- |
1 |
4-89042835-G-C |
c.641C>G |
p.T214S |
Missense |
6/16 |
- |
2 |
4-89042836-T-A |
c.640A>T |
p.T214S |
Missense |
6/16 |
- |
3 |
4-89042836-T-C |
c.640A>G |
p.T214A |
Missense |
6/16 |
- |
1 |
4-89042836-T-G |
c.640A>C |
p.T214P |
Missense |
6/16 |
- |
1 |
4-89042841-G-A |
c.635C>T |
p.P212L |
Missense |
6/16 |
- |
1 |
4-89042841-G-C |
c.635C>G |
p.P212R |
Missense |
6/16 |
- |
1 |
4-89042842-G-C |
c.634C>G |
p.P212A |
Missense |
6/16 |
- |
2 |
4-89042844-T-C |
c.632A>G |
p.E211G |
Missense |
6/16 |
- |
1 |
4-89042844-T-G |
c.632A>C |
p.E211A |
Missense |
6/16 |
- |
1 |
4-89042845-C-G |
c.631G>C |
p.E211Q |
Missense |
6/16 |
- |
20 |
4-89042845-C-T |
c.631G>A |
p.E211K |
Missense |
6/16 |
- |
2 |
4-89042848-C-T |
c.628G>A |
p.D210N |
Missense |
6/16 |
- |
4 |
4-89042850-A-G |
c.626T>C |
p.L209S |
Missense |
6/16 |
- |
1 |
4-89042849-CA-C |
c.626del |
p.L209Wfs*8 |
Frameshift |
6/16 |
- |
1 |
4-89042853-A-G |
c.623T>C |
p.F208S |
Missense |
6/16 |
- |
27 |
4-89042852-G-C |
c.624C>G |
p.F208L |
Missense |
6/16 |
- |
1 |
4-89042852-G-T |
c.624C>A |
p.F208L |
Missense |
6/16 |
- |
1 |
4-89042854-A-G |
c.622T>C |
p.F208L |
Missense |
6/16 |
- |
1 |
4-89042855-C-G |
c.621G>C |
p.L207F |
Missense |
6/16 |
- |
1 |
4-89042857-A-G |
c.619T>C |
p.L207= |
Synonymous |
6/16 |
- |
1 |
4-89042859-A-C |
c.617T>G |
p.I206S |
Missense |
6/16 |
- |
1 |
4-89042860-T-C |
c.616A>G |
p.I206V |
Missense |
6/16 |
- |
3 |
4-89042860-T-G |
c.616A>C |
p.I206L |
Missense |
6/16 |
- |
15 |
4-89042862-G-A |
c.614C>T |
p.S205F |
Missense |
6/16 |
- |
1 |
4-89042863-A-G |
c.613T>C |
p.S205P |
Missense |
6/16 |
- |
1 |
4-89042865-G-A |
c.611C>T |
p.P204L |
Missense |
6/16 |
- |
2 |
4-89042867-A-C |
c.609T>G |
p.D203E |
Missense |
6/16 |
- |
2 |
4-89042867-A-T |
c.609T>A |
p.D203E |
Missense |
6/16 |
- |
1 |
4-89042871-G-A |
c.605C>T |
p.T202I |
Missense |
6/16 |
- |
1 |
4-89042871-G-C |
c.605C>G |
p.T202S |
Missense |
6/16 |
- |
1 |
4-89042872-T-A |
c.604A>T |
p.T202S |
Missense |
6/16 |
- |
1 |
4-89042873-G-A |
c.603C>T |
p.I201= |
Synonymous |
6/16 |
- |
1 |
4-89042873-G-T |
c.603C>A |
p.I201= |
Synonymous |
6/16 |
- |
1 |
4-89042874-A-G |
c.602T>C |
p.I201T |
Missense |
6/16 |
- |
1 |
4-89042876-A-C |
c.600T>G |
p.L200= |
Synonymous |
6/16 |
- |
1 |
4-89042878-G-A |
c.598C>T |
p.L200F |
Missense |
6/16 |
- |
1 |
4-89042878-G-T |
c.598C>A |
p.L200I |
Missense |
6/16 |
- |
1 |
4-89042879-C-G |
c.597G>C |
p.E199D |
Missense |
6/16 |
- |
1 |
4-89042879-C-T |
c.597G>A |
p.E199= |
Synonymous |
6/16 |
- |
1 |
4-89042880-T-C |
c.596A>G |
p.E199G |
Missense |
6/16 |
- |
1 |
4-89042886-C-T |
c.590G>A |
p.G197E |
Missense |
6/16 |
- |
4 |
4-89042887-C-T |
c.589G>A |
p.G197R |
Missense |
6/16 |
- |
2 |
4-89042888-T-C |
c.588A>G |
p.I196M |
Missense |
6/16 |
- |
1 |
4-89042889-A-C |
c.587T>G |
p.I196R |
Missense |
6/16 |
- |
2 |
4-89042890-T-A |
c.586A>T |
p.I196L |
Missense |
6/16 |
- |
1 |
4-89042890-T-C |
c.586A>G |
p.I196V |
Missense |
6/16 |
- |
1 |
4-89042890-T-G |
c.586A>C |
p.I196L |
Missense |
6/16 |
- |
1 |
4-89042891-A-G |
c.585T>C |
p.S195= |
Synonymous |
6/16 |
- |
1 |
4-89042892-C-A |
c.584G>T |
p.S195I |
Missense |
6/16 |
- |
1 |
4-89042892-CT-GC |
c.583_584delinsGC |
p.S195A |
Missense |
6/16 |
- |
2 |
4-89042892-CT-TC |
c.583_584delinsGA |
p.S195D |
Missense |
6/16 |
- |
1 |
4-89042893-T-G |
c.583A>C |
p.S195R |
Missense |
6/16 |
- |
1 |
4-89042895-G-A |
c.581C>T |
p.T194I |
Missense |
6/16 |
- |
2 |
4-89042895-G-C |
c.581C>G |
p.T194S |
Missense |
6/16 |
- |
1 |
4-89042895-GT-TC |
c.580_581delinsGA |
p.T194D |
Missense |
6/16 |
- |
1 |
4-89042896-T-C |
c.580A>G |
p.T194A |
Missense |
6/16 |
- |
1 |
4-89042897-C-A |
c.579G>T |
p.R193S |
Missense |
6/16 |
- |
1 |
4-89042897-C-T |
c.579G>A |
p.R193= |
Synonymous |
6/16 |
- |
1 |
4-89042898-C-A |
c.578G>T |
p.R193M |
Missense |
6/16 |
- |
1 |
4-89042898-C-T |
c.578G>A |
p.R193K |
Missense |
6/16 |
- |
2 |
4-89042900-T-C |
c.576A>G |
p.K192= |
Synonymous |
6/16 |
- |
1 |
4-89042902-T-A |
c.574A>T |
p.K192* |
Nonsense |
6/16 |
- |
1 |
4-89042902-T-C |
c.574A>G |
p.K192E |
Missense |
6/16 |
- |
5 |
4-89042903-T-A |
c.573A>T |
p.R191S |
Missense |
6/16 |
- |
2 |
4-89042903-T-C |
c.573A>G |
p.R191= |
Synonymous |
6/16 |
- |
2 |
4-89042903-T-G |
c.573A>C |
p.R191S |
Missense |
6/16 |
- |
1 |
4-89042904-C-T |
c.572G>A |
p.R191K |
Missense |
6/16 |
- |
3 |
4-89042908-C-A |
c.568G>T |
p.E190* |
Nonsense |
6/16 |
- |
2 |
4-89042908-C-T |
c.568G>A |
p.E190K |
Missense |
6/16 |
- |
3 |
4-89042911-C-G |
c.565G>C |
p.G189R |
Missense |
6/16 |
- |
5 |
4-89042911-C-T |
c.565G>A |
p.G189R |
Missense |
6/16 |
- |
7 |
4-89042912-T-A |
c.564A>T |
p.G188= |
Synonymous |
6/16 |
- |
1 |
4-89042912-T-C |
c.564A>G |
p.G188= |
Synonymous |
6/16 |
- |
7 |
4-89042912-T-G |
c.564A>C |
p.G188= |
Synonymous |
6/16 |
- |
7 |
4-89042913-C-A |
c.563G>T |
p.G188V |
Missense |
6/16 |
- |
2 |
4-89042913-C-T |
c.563G>A |
p.G188E |
Missense |
6/16 |
- |
2 |
4-89042914-C-T |
c.562G>A |
p.G188R |
Missense |
6/16 |
- |
2 |
4-89042916-G-C |
c.560C>G |
p.S187C |
Missense |
6/16 |
- |
1 |
4-89042917-A-C |
c.559T>G |
p.S187A |
Missense |
6/16 |
- |
1 |
4-89042917-A-G |
c.559T>C |
p.S187P |
Missense |
6/16 |
- |
1 |
4-89042917-A-T |
c.559T>A |
p.S187T |
Missense |
6/16 |
- |
2 |
4-89042918-C-A |
c.558G>T |
p.V186= |
Synonymous |
6/16 |
- |
1 |
4-89042920-C-T |
c.556G>A |
p.V186M |
Missense |
6/16 |
- |
2 |
4-89042922-CC-GT |
c.553_554delinsAC |
p.G185T |
Missense |
6/16 |
- |
1 |
4-89042922-C-T |
c.554G>A |
p.G185D |
Missense |
6/16 |
- |
1 |
4-89042923-C-G |
c.553G>C |
p.G185R |
Missense |
6/16 |
- |
4 |
4-89042925-CG-GC |
c.550_551delinsGC |
p.R184A |
Missense |
6/16 |
- |
1 |
4-89042925-C-T |
c.551G>A |
p.R184H |
Missense |
6/16 |
- |
3 |
4-89042926-G-A |
c.550C>T |
p.R184C |
Missense |
6/16 |
- |
2 |
4-89042926-G-T |
c.550C>A |
p.R184S |
Missense |
6/16 |
- |
1 |
4-89042927-G-A |
c.549C>T |
p.I183= |
Synonymous |
6/16 |
- |
2 |
4-89042930-A-G |
c.546T>C |
p.F182= |
Synonymous |
6/16 |
- |
2 |
4-89042931-A-G |
c.545T>C |
p.F182S |
Missense |
6/16 |
- |
1 |
4-89042933-C-CT |
c.542dup |
p.F182Vfs*14 |
Frameshift |
6/16 |
- |
2 |
4-89042935-G-A |
c.541C>T |
p.Q181* |
Nonsense |
6/16 |
- |
1 |
4-89042938-T-C |
c.538A>G |
p.T180A |
Missense |
6/16 |
- |
1 |
4-89042939-TC-GT |
c.536_537delinsAC |
p.G179D |
Missense |
6/16 |
- |
1 |
4-89042940-C-T |
c.536G>A |
p.G179E |
Missense |
6/16 |
- |
2 |
4-89042941-C-G |
c.535G>C |
p.G179R |
Missense |
6/16 |
- |
1 |
4-89042941-C-T |
c.535G>A |
p.G179R |
Missense |
6/16 |
- |
2 |
4-89042942-AAC-CAT |
c.532_534delinsATG |
p.V178M |
Missense |
6/16 |
- |
2 |
4-89042942-A-G |
c.534T>C |
p.V178= |
Synonymous |
6/16 |
- |
1 |
4-89042944-C-G |
c.532G>C |
p.V178L |
Missense |
6/16 |
- |
1 |
4-89042944-C-T |
c.532G>A |
p.V178I |
Missense |
6/16 |
- |
3 |
4-89042946-T-C |
c.532-2A>G |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89042960-T-C |
c.532-16A>G |
- |
IntronicSNV |
- |
5/15 |
5 |
4-89043462-G-A |
c.532-518C>T |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89043484-G-A |
c.532-540C>T |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89043484-G-T |
c.532-540C>A |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89043634-G-A |
c.532-690C>T |
- |
IntronicSNV |
- |
5/15 |
4 |
4-89043634-G-C |
c.532-690C>G |
- |
IntronicSNV |
- |
5/15 |
4 |
4-89043634-G-T |
c.532-690C>A |
- |
IntronicSNV |
- |
5/15 |
4 |
4-89043826-T-C |
c.532-882A>G |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89043826-T-G |
c.532-882A>C |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89043881-G-C |
c.532-937C>G |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89043881-G-T |
c.532-937C>A |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89044014-T-C |
c.532-1070A>G |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89044067-T-C |
c.532-1123A>G |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89044180-G-A |
c.532-1236C>T |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89044180-G-C |
c.532-1236C>G |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89044312-A-T |
c.532-1368T>A |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89044784-A-G |
c.532-1840T>C |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89045331-A-G |
c.532-2387T>C |
- |
IntronicSNV |
- |
5/15 |
27 |
4-89045331-A-T |
c.532-2387T>A |
- |
IntronicSNV |
- |
5/15 |
27 |
4-89045426-G-A |
c.532-2482C>T |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89045485-T-A |
c.532-2541A>T |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89045485-T-C |
c.532-2541A>G |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89046202-C-T |
c.532-3258G>A |
- |
IntronicSNV |
- |
5/15 |
3 |
4-89046294-A-G |
c.532-3350T>C |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89046395-G-C |
c.532-3451C>G |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89046477-A-G |
c.532-3533T>C |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89046575-G-A |
c.532-3631C>T |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89046617-G-A |
c.532-3673C>T |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89046776-A-C |
c.532-3832T>G |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89046903-G-A |
c.532-3959C>T |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89046935-T-A |
c.532-3991A>T |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89046935-T-C |
c.532-3991A>G |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89047100-G-A |
c.532-4156C>T |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89047169-T-C |
c.532-4225A>G |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89047173-A-C |
c.532-4229T>G |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89048081-C-A |
c.531+4132G>T |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89048081-C-T |
c.531+4132G>A |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89048107-T-C |
c.531+4106A>G |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89048107-T-G |
c.531+4106A>C |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89049055-T-A |
c.531+3158A>T |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89049055-T-C |
c.531+3158A>G |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89049107-G-A |
c.531+3106C>T |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89049107-G-T |
c.531+3106C>A |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89049243-C-T |
c.531+2970G>A |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89050026-C-A |
c.531+2187G>T |
- |
IntronicSNV |
- |
5/15 |
4 |
4-89050082-T-TA |
c.531+2130dup |
- |
IntronicInsertion |
- |
5/15 |
1 |
4-89050108-T-G |
c.531+2105A>C |
- |
IntronicSNV |
- |
5/15 |
4 |
4-89050198-A-C |
c.531+2015T>G |
- |
IntronicSNV |
- |
5/15 |
2 |
4-89050998-A-G |
c.531+1215T>C |
- |
IntronicSNV |
- |
5/15 |
8 |
4-89051573-C-T |
c.531+640G>A |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89051704-G-T |
c.531+509C>A |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89052199-T-A |
c.531+14A>T |
- |
IntronicSNV |
- |
5/15 |
1 |
4-89052213-C-T |
c.531G>A |
p.K177= |
Synonymous |
5/16 |
- |
2 |
4-89052214-T-C |
c.530A>G |
p.K177R |
Missense |
5/16 |
- |
1 |
4-89052216-G-T |
c.528C>A |
p.S176= |
Synonymous |
5/16 |
- |
1 |
4-89052217-G-A |
c.527C>T |
p.S176F |
Missense |
5/16 |
- |
2 |
4-89052217-G-C |
c.527C>G |
p.S176C |
Missense |
5/16 |
- |
1 |
4-89052217-G-T |
c.527C>A |
p.S176Y |
Missense |
5/16 |
- |
1 |
4-89052218-A-T |
c.526T>A |
p.S176T |
Missense |
5/16 |
- |
1 |
4-89052219-G-A |
c.525C>T |
p.D175= |
Synonymous |
5/16 |
- |
1 |
4-89052220-T-C |
c.524A>G |
p.D175G |
Missense |
5/16 |
- |
1 |
4-89052221-C-T |
c.523G>A |
p.D175N |
Missense |
5/16 |
- |
2 |
4-89052226-A-G |
c.518T>C |
p.V173A |
Missense |
5/16 |
- |
1 |
4-89052230-T-C |
c.514A>G |
p.K172E |
Missense |
5/16 |
- |
1 |
4-89052230-T-G |
c.514A>C |
p.K172Q |
Missense |
5/16 |
- |
5 |
4-89052232-TC-CG |
c.511_512delinsCG |
p.D171R |
Missense |
5/16 |
- |
1 |
4-89052233-C-T |
c.511G>A |
p.D171N |
Missense |
5/16 |
- |
2 |
4-89052236-G-A |
c.508C>T |
p.L170= |
Synonymous |
5/16 |
- |
1 |
4-89052238-C-A |
c.506G>T |
p.G169V |
Missense |
5/16 |
- |
1 |
4-89052239-C-T |
c.505G>A |
p.G169S |
Missense |
5/16 |
- |
2 |
4-89052243-C-T |
c.501G>A |
p.E167= |
Synonymous |
5/16 |
- |
1 |
4-89052245-C-A |
c.499G>T |
p.E167* |
Nonsense |
5/16 |
- |
2 |
4-89052245-C-G |
c.499G>C |
p.E167Q |
Missense |
5/16 |
- |
1 |
4-89052245-C-T |
c.499G>A |
p.E167K |
Missense |
5/16 |
- |
1 |
4-89052246-T-A |
c.498A>T |
p.Q166H |
Missense |
5/16 |
- |
1 |
4-89052248-G-C |
c.496C>G |
p.Q166E |
Missense |
5/16 |
- |
18 |
4-89052251-T-C |
c.493A>G |
p.I165V |
Missense |
5/16 |
- |
1 |
4-89052252-G-A |
c.492C>T |
p.V164= |
Synonymous |
5/16 |
- |
2 |
4-89052252-G-C |
c.492C>G |
p.V164= |
Synonymous |
5/16 |
- |
2 |
4-89052252-G-T |
c.492C>A |
p.V164= |
Synonymous |
5/16 |
- |
2 |
4-89052253-A-G |
c.491T>C |
p.V164A |
Missense |
5/16 |
- |
3 |
4-89052254-C-A |
c.490G>T |
p.V164F |
Missense |
5/16 |
- |
1 |
4-89052254-C-T |
c.490G>A |
p.V164I |
Missense |
5/16 |
- |
3 |
4-89052255-C-A |
c.489G>T |
p.R163S |
Missense |
5/16 |
- |
4 |
4-89052255-C-G |
c.489G>C |
p.R163S |
Missense |
5/16 |
- |
1 |
4-89052256-C-T |
c.488G>A |
p.R163K |
Missense |
5/16 |
- |
2 |
4-89052257-T-C |
c.487A>G |
p.R163G |
Missense |
5/16 |
- |
1 |
4-89052258-G-A |
c.486C>T |
p.N162= |
Synonymous |
5/16 |
- |
2 |
4-89052262-A-C |
c.482T>G |
p.I161S |
Missense |
5/16 |
- |
3 |
4-89052263-T-C |
c.481A>G |
p.I161V |
Missense |
5/16 |
- |
1 |
4-89052264-C-T |
c.480G>A |
p.R160= |
Synonymous |
5/16 |
- |
4 |
4-89052265-C-A |
c.479G>T |
p.R160L |
Missense |
5/16 |
- |
2 |
4-89052265-CG-TA |
c.478_479delinsTA |
p.R160* |
Nonsense |
5/16 |
- |
1 |
4-89052265-C-T |
c.479G>A |
p.R160Q |
Missense |
5/16 |
- |
10 |
4-89052264-C-A |
c.480G>T |
p.R160= |
Synonymous |
5/16 |
- |
1 |
4-89052264-C-G |
c.480G>C |
p.R160= |
Synonymous |
5/16 |
- |
1 |
4-89052266-G-A |
c.478C>T |
p.R160W |
Missense |
5/16 |
- |
10 |
4-89052266-G-T |
c.478C>A |
p.R160= |
Synonymous |
5/16 |
- |
1 |
4-89052267-T-A |
c.477A>T |
p.E159D |
Missense |
5/16 |
- |
2 |
4-89052267-T-G |
c.477A>C |
p.E159D |
Missense |
5/16 |
- |
1 |
4-89052269-C-A |
c.475G>T |
p.E159* |
Nonsense |
5/16 |
- |
1 |
4-89052269-C-T |
c.475G>A |
p.E159K |
Missense |
5/16 |
- |
4 |
4-89052270-G-A |
c.474C>T |
p.N158= |
Synonymous |
5/16 |
- |
2 |
4-89052270-G-C |
c.474C>G |
p.N158K |
Missense |
5/16 |
- |
3 |
4-89052270-G-T |
c.474C>A |
p.N158K |
Missense |
5/16 |
- |
1 |
4-89052271-TT-CC |
c.472_473delinsGG |
p.N158G |
Missense |
5/16 |
- |
1 |
4-89052273-T-C |
c.471A>G |
p.K157= |
Synonymous |
5/16 |
- |
1 |
4-89052273-T-G |
c.471A>C |
p.K157N |
Missense |
5/16 |
- |
1 |
4-89052274-T-C |
c.470A>G |
p.K157R |
Missense |
5/16 |
- |
1 |
4-89052274-T-G |
c.470A>C |
p.K157T |
Missense |
5/16 |
- |
1 |
4-89052275-T-C |
c.469A>G |
p.K157E |
Missense |
5/16 |
- |
2 |
4-89052276-T-C |
c.468A>G |
p.E156= |
Synonymous |
5/16 |
- |
1 |
4-89052270-G-GT |
c.473dup |
p.N158Kfs*5 |
Frameshift |
5/16 |
- |
3 |
4-89052270-GT-G |
c.473del |
p.N158Tfs*11 |
Frameshift |
5/16 |
- |
2 |
4-89052277-T-C |
c.467A>G |
p.E156G |
Missense |
5/16 |
- |
2 |
4-89052277-T-G |
c.467A>C |
p.E156A |
Missense |
5/16 |
- |
1 |
4-89052279-A-C |
c.465T>G |
p.H155Q |
Missense |
5/16 |
- |
1 |
4-89052279-A-G |
c.465T>C |
p.H155= |
Synonymous |
5/16 |
- |
1 |
4-89052280-T-A |
c.464A>T |
p.H155L |
Missense |
5/16 |
- |
1 |
4-89052280-T-C |
c.464A>G |
p.H155R |
Missense |
5/16 |
- |
1 |
4-89052280-TG-GC |
c.463_464delinsGC |
p.H155A |
Missense |
5/16 |
- |
2 |
4-89052281-G-A |
c.463C>T |
p.H155Y |
Missense |
5/16 |
- |
5 |
4-89052281-G-C |
c.463C>G |
p.H155D |
Missense |
5/16 |
- |
3 |
4-89052284-T-C |
c.460A>G |
p.N154D |
Missense |
5/16 |
- |
1 |
4-89052285-C-A |
c.459G>T |
p.T153= |
Synonymous |
5/16 |
- |
1 |
4-89052285-C-G |
c.459G>C |
p.T153= |
Synonymous |
5/16 |
- |
1 |
4-89052285-C-T |
c.459G>A |
p.T153= |
Synonymous |
5/16 |
- |
3 |
4-89052286-G-A |
c.458C>T |
p.T153M |
Missense |
5/16 |
- |
16 |
4-89052289-A-G |
c.455T>C |
p.M152T |
Missense |
5/16 |
- |
3 |
4-89052290-AT-A |
c.454del |
p.M152* |
Frameshift |
5/16 |
- |
1 |
4-89052292-G-T |
c.452C>A |
p.T151N |
Missense |
5/16 |
- |
2 |
4-89052293-T-G |
c.451A>C |
p.T151P |
Missense |
5/16 |
- |
1 |
4-89052295-G-C |
c.449C>G |
p.T150R |
Missense |
5/16 |
- |
2 |
4-89052296-T-A |
c.448A>T |
p.T150S |
Missense |
5/16 |
- |
3 |
4-89052296-T-C |
c.448A>G |
p.T150A |
Missense |
5/16 |
- |
1 |
4-89052297-T-C |
c.447A>G |
p.A149= |
Synonymous |
5/16 |
- |
1 |
4-89052299-C-G |
c.445G>C |
p.A149P |
Missense |
5/16 |
- |
6 |
4-89052299-C-T |
c.445G>A |
p.A149T |
Missense |
5/16 |
- |
1 |
4-89052301-A-G |
c.443T>C |
p.L148P |
Missense |
5/16 |
- |
1 |
4-89052302-G-A |
c.442C>T |
p.L148F |
Missense |
5/16 |
- |
1 |
4-89052303-C-T |
c.441G>A |
p.R147= |
Synonymous |
5/16 |
- |
1 |
4-89052304-C-T |
c.440G>A |
p.R147Q |
Missense |
5/16 |
- |
1 |
4-89052305-G-A |
c.439C>T |
p.R147W |
Missense |
5/16 |
- |
18 |
4-89052308-G-A |
c.436C>T |
p.L146F |
Missense |
5/16 |
- |
2 |
4-89052311-C-A |
c.433G>T |
p.A145S |
Missense |
5/16 |
- |
1 |
4-89052311-C-G |
c.433G>C |
p.A145P |
Missense |
5/16 |
- |
2 |
4-89052311-C-T |
c.433G>A |
p.A145T |
Missense |
5/16 |
- |
1 |
4-89052313-G-T |
c.431C>A |
p.A144E |
Missense |
5/16 |
- |
5 |
4-89052314-C-T |
c.430G>A |
p.A144T |
Missense |
5/16 |
- |
1 |
4-89052316-GA-CC |
c.427_428delinsGG |
p.S143G |
Missense |
5/16 |
- |
1 |
4-89052317-A-G |
c.427T>C |
p.S143P |
Missense |
5/16 |
- |
2 |
4-89052318-G-A |
c.426C>T |
p.F142= |
Synonymous |
5/16 |
- |
1 |
4-89052318-G-T |
c.426C>A |
p.F142L |
Missense |
5/16 |
- |
1 |
4-89052321-C-A |
c.423G>T |
p.Q141H |
Missense |
5/16 |
- |
1 |
4-89052321-C-T |
c.423G>A |
p.Q141= |
Synonymous |
5/16 |
- |
3 |
4-89052322-T-A |
c.422A>T |
p.Q141L |
Missense |
5/16 |
- |
1 |
4-89052322-T-G |
c.422A>C |
p.Q141P |
Missense |
5/16 |
- |
1 |
4-89052323-G-A |
c.421C>T |
p.Q141* |
Nonsense |
5/16 |
- |
1 |
4-89052323-G-C |
c.421C>G |
p.Q141E |
Missense |
5/16 |
- |
333 |
4-89052323-G-T |
c.421C>A |
p.Q141K |
Missense |
5/16 |
- |
734 |
4-89052326-A-C |
c.418T>G |
p.L140V |
Missense |
5/16 |
- |
2 |
4-89052327-G-A |
c.417C>T |
p.N139= |
Synonymous |
5/16 |
- |
1 |
4-89052328-T-C |
c.416A>G |
p.N139S |
Missense |
5/16 |
- |
1 |
4-89052330-T-A |
c.414A>T |
p.E138D |
Missense |
5/16 |
- |
1 |
4-89052330-T-G |
c.414A>C |
p.E138D |
Missense |
5/16 |
- |
1 |
4-89052331-TC-CT |
c.412_413delinsAG |
p.E138R |
Missense |
5/16 |
- |
1 |
4-89052331-T-G |
c.413A>C |
p.E138A |
Missense |
5/16 |
- |
1 |
4-89052332-C-A |
c.412G>T |
p.E138* |
Nonsense |
5/16 |
- |
3 |
4-89052332-C-G |
c.412G>C |
p.E138Q |
Missense |
5/16 |
- |
3 |
4-89052332-C-T |
c.412G>A |
p.E138K |
Missense |
5/16 |
- |
5 |
4-89052334-C-G |
c.410G>C |
p.R137T |
Missense |
5/16 |
- |
1 |
4-89052334-C-T |
c.410G>A |
p.R137K |
Missense |
5/16 |
- |
2 |
4-89052334-CT-TC |
c.409_410delinsGA |
p.R137E |
Missense |
5/16 |
- |
1 |
4-89052338-C-T |
c.406G>A |
p.V136M |
Missense |
5/16 |
- |
2 |
4-89052339-C-T |
c.405G>A |
p.T135= |
Synonymous |
5/16 |
- |
1 |
4-89052340-G-A |
c.404C>T |
p.T135M |
Missense |
5/16 |
- |
2 |
4-89052340-G-T |
c.404C>A |
p.T135K |
Missense |
5/16 |
- |
6 |
4-89052344-G-C |
c.400C>G |
p.L134V |
Missense |
5/16 |
- |
1 |
4-89052348-G-A |
c.396C>T |
p.G132= |
Synonymous |
5/16 |
- |
1 |
4-89052348-GC-CT |
c.395_396delinsAG |
p.G132E |
Missense |
5/16 |
- |
2 |
4-89052349-C-G |
c.395G>C |
p.G132A |
Missense |
5/16 |
- |
2 |
4-89052351-C-A |
c.393G>T |
p.M131I |
Missense |
5/16 |
- |
6 |
4-89052351-C-G |
c.393G>C |
p.M131I |
Missense |
5/16 |
- |
2 |
4-89052351-C-T |
c.393G>A |
p.M131I |
Missense |
5/16 |
- |
4 |
4-89052352-AT-GC |
c.391_392delinsGC |
p.M131A |
Missense |
5/16 |
- |
1 |
4-89052353-T-C |
c.391A>G |
p.M131V |
Missense |
5/16 |
- |
1 |
4-89052354-C-A |
c.390G>T |
p.V130= |
Synonymous |
5/16 |
- |
1 |
4-89052354-C-T |
c.390G>A |
p.V130= |
Synonymous |
5/16 |
- |
1 |
4-89052356-C-A |
c.388G>T |
p.V130L |
Missense |
5/16 |
- |
2 |
4-89052356-C-T |
c.388G>A |
p.V130M |
Missense |
5/16 |
- |
2 |
4-89052360-A-C |
c.384T>G |
p.D128E |
Missense |
5/16 |
- |
2 |
4-89052361-T-A |
c.383A>T |
p.D128V |
Missense |
5/16 |
- |
6 |
4-89052365-C-T |
c.379G>A |
p.D127N |
Missense |
5/16 |
- |
1 |
4-89052377-T-C |
c.379-12A>G |
- |
IntronicSNV |
- |
4/15 |
1 |
4-89052955-T-C |
c.378A>G |
p.Q126= |
Synonymous |
4/16 |
- |
1 |
4-89052956-TG-GT |
c.376_377delinsAC |
p.Q126T |
Missense |
4/16 |
- |
1 |
4-89052957-G-A |
c.376C>T |
p.Q126* |
Nonsense |
4/16 |
- |
96 |
4-89052957-G-T |
c.376C>A |
p.Q126K |
Missense |
4/16 |
- |
1 |
4-89052958-T-A |
c.375A>T |
p.V125= |
Synonymous |
4/16 |
- |
1 |
4-89052958-T-C |
c.375A>G |
p.V125= |
Synonymous |
4/16 |
- |
1 |
4-89052958-T-G |
c.375A>C |
p.V125= |
Synonymous |
4/16 |
- |
1 |
4-89052961-C-A |
c.372G>T |
p.V124= |
Synonymous |
4/16 |
- |
1 |
4-89052961-C-G |
c.372G>C |
p.V124= |
Synonymous |
4/16 |
- |
1 |
4-89052961-C-T |
c.372G>A |
p.V124= |
Synonymous |
4/16 |
- |
1 |
4-89052963-C-A |
c.370G>T |
p.V124L |
Missense |
4/16 |
- |
1 |
4-89052963-C-G |
c.370G>C |
p.V124L |
Missense |
4/16 |
- |
1 |
4-89052963-C-T |
c.370G>A |
p.V124M |
Missense |
4/16 |
- |
2 |
4-89052964-G-A |
c.369C>T |
p.Y123= |
Synonymous |
4/16 |
- |
10 |
4-89052967-A-C |
c.366T>G |
p.G122= |
Synonymous |
4/16 |
- |
1 |
4-89052967-A-G |
c.366T>C |
p.G122= |
Synonymous |
4/16 |
- |
1 |
4-89052967-A-T |
c.366T>A |
p.G122= |
Synonymous |
4/16 |
- |
1 |
4-89052968-C-A |
c.365G>T |
p.G122V |
Missense |
4/16 |
- |
2 |
4-89052969-C-A |
c.364G>T |
p.G122C |
Missense |
4/16 |
- |
1 |
4-89052969-C-T |
c.364G>A |
p.G122S |
Missense |
4/16 |
- |
1 |
4-89052970-T-A |
c.363A>T |
p.S121= |
Synonymous |
4/16 |
- |
1 |
4-89052970-T-C |
c.363A>G |
p.S121= |
Synonymous |
4/16 |
- |
1 |
4-89052970-T-G |
c.363A>C |
p.S121= |
Synonymous |
4/16 |
- |
1 |
4-89052977-CA-GC |
c.355_356delinsGC |
p.C119A |
Missense |
4/16 |
- |
1 |
4-89052977-C-T |
c.356G>A |
p.C119Y |
Missense |
4/16 |
- |
1 |
4-89052979-T-A |
c.354A>T |
p.K118N |
Missense |
4/16 |
- |
1 |
4-89052993-G-A |
c.340C>T |
p.P114S |
Missense |
4/16 |
- |
1 |
4-89052994-T-G |
c.339A>C |
p.R113= |
Synonymous |
4/16 |
- |
1 |
4-89052995-C-T |
c.338G>A |
p.R113Q |
Missense |
4/16 |
- |
5 |
4-89052996-G-A |
c.337C>T |
p.R113* |
Nonsense |
4/16 |
- |
7 |
4-89052997-C-T |
c.336G>A |
p.P112= |
Synonymous |
4/16 |
- |
2 |
4-89052998-G-A |
c.335C>T |
p.P112L |
Missense |
4/16 |
- |
6 |
4-89052998-G-T |
c.335C>A |
p.P112Q |
Missense |
4/16 |
- |
10 |
4-89053000-T-C |
c.333A>G |
p.A111= |
Synonymous |
4/16 |
- |
1 |
4-89053000-T-G |
c.333A>C |
p.A111= |
Synonymous |
4/16 |
- |
1 |
4-89053001-G-T |
c.332C>A |
p.A111E |
Missense |
4/16 |
- |
1 |
4-89053002-C-T |
c.331G>A |
p.A111T |
Missense |
4/16 |
- |
1 |
4-89053004-C-G |
c.329G>C |
p.G110A |
Missense |
4/16 |
- |
2 |
4-89053004-C-T |
c.329G>A |
p.G110E |
Missense |
4/16 |
- |
3 |
4-89053003-T-TCCTGCCAATTTATCAGATAAATCTG |
c.329_330insCAGATTTATCTGATAAATTGGCAGG |
p.A111Rfs*4 |
Frameshift |
4/16 |
- |
1 |
4-89053006-A-G |
c.327T>C |
p.N109= |
Synonymous |
4/16 |
- |
2 |
4-89053010-A-G |
c.323T>C |
p.I108T |
Missense |
4/16 |
- |
1 |
4-89053011-T-C |
c.322A>G |
p.I108V |
Missense |
4/16 |
- |
5 |
4-89053014-G-A |
c.319C>T |
p.L107= |
Synonymous |
4/16 |
- |
1 |
4-89053014-G-C |
c.319C>G |
p.L107V |
Missense |
4/16 |
- |
1 |
4-89053015-AAC-CAT |
c.316_318delinsATG |
p.V106M |
Missense |
4/16 |
- |
1 |
4-89053015-A-G |
c.318T>C |
p.V106= |
Synonymous |
4/16 |
- |
1 |
4-89053020-TC-T |
c.313del |
p.D105Mfs*3 |
Frameshift |
4/16 |
- |
1 |
4-89053021-T-A |
c.312A>T |
p.G104= |
Synonymous |
4/16 |
- |
1 |
4-89053021-T-C |
c.312A>G |
p.G104= |
Synonymous |
4/16 |
- |
1 |
4-89053021-T-G |
c.312A>C |
p.G104= |
Synonymous |
4/16 |
- |
1 |
4-89053023-C-G |
c.310G>C |
p.G104R |
Missense |
4/16 |
- |
1 |
4-89053024-A-C |
c.309T>G |
p.S103= |
Synonymous |
4/16 |
- |
1 |
4-89053024-AGA-CAT |
c.307_309delinsATG |
p.S103M |
Missense |
4/16 |
- |
1 |
4-89053025-GA-AG |
c.307_308delinsCT |
p.S103L |
Missense |
4/16 |
- |
1 |
4-89053025-GA-TT |
c.307_308delinsAA |
p.S103N |
Missense |
4/16 |
- |
1 |
4-89053028-AA-TG |
c.304_305delinsCA |
p.L102Q |
Missense |
4/16 |
- |
1 |
4-89053030-T-A |
c.303A>T |
p.G101= |
Synonymous |
4/16 |
- |
2 |
4-89053030-T-C |
c.303A>G |
p.G101= |
Synonymous |
4/16 |
- |
1 |
4-89053030-T-G |
c.303A>C |
p.G101= |
Synonymous |
4/16 |
- |
1 |
4-89053032-C-A |
c.301G>T |
p.G101* |
Nonsense |
4/16 |
- |
2 |
4-89053033-A-G |
c.300T>C |
p.S100= |
Synonymous |
4/16 |
- |
1 |
4-89053034-C-T |
c.299G>A |
p.S100N |
Missense |
4/16 |
- |
1 |
4-89053034-CT-GC |
c.298_299delinsGC |
p.S100A |
Missense |
4/16 |
- |
8 |
4-89053034-CT-GG |
c.298_299delinsCC |
p.S100P |
Missense |
4/16 |
- |
12 |
4-89053035-T-C |
c.298A>G |
p.S100G |
Missense |
4/16 |
- |
4 |
4-89053036-TG-AT |
c.296_297delinsAT |
p.P99H |
Missense |
4/16 |
- |
1 |
4-89053038-G-A |
c.295C>T |
p.P99S |
Missense |
4/16 |
- |
1 |
4-89053038-G-C |
c.295C>G |
p.P99A |
Missense |
4/16 |
- |
1 |
4-89053041-C-A |
c.292G>T |
p.D98Y |
Missense |
4/16 |
- |
1 |
4-89053044-T-C |
c.289A>G |
p.K97E |
Missense |
4/16 |
- |
1 |
4-89053045-C-T |
c.288G>A |
p.R96= |
Synonymous |
4/16 |
- |
4 |
4-89053047-T-G |
c.286A>C |
p.R96= |
Synonymous |
4/16 |
- |
2 |
4-89053047-T-C |
c.286A>G |
p.R96G |
Missense |
4/16 |
- |
2 |
4-89053048-TGC-AAA |
c.283_285delinsTTT |
p.A95F |
Missense |
4/16 |
- |
1 |
4-89053048-TGC-ACA |
c.283_285delinsTGT |
p.A95C |
Missense |
4/16 |
- |
1 |
4-89053048-TG-GT |
c.284_285delinsAC |
p.A95D |
Missense |
4/16 |
- |
1 |
4-89053049-G-A |
c.284C>T |
p.A95V |
Missense |
4/16 |
- |
2 |
4-89053050-C-T |
c.283G>A |
p.A95T |
Missense |
4/16 |
- |
1 |
4-89053051-A-C |
c.282T>G |
p.A94= |
Synonymous |
4/16 |
- |
1 |
4-89053051-A-G |
c.282T>C |
p.A94= |
Synonymous |
4/16 |
- |
1 |
4-89053051-A-T |
c.282T>A |
p.A94= |
Synonymous |
4/16 |
- |
1 |
4-89053052-G-A |
c.281C>T |
p.A94V |
Missense |
4/16 |
- |
1 |
4-89053052-GC-CA |
c.280_281delinsTG |
p.A94C |
Missense |
4/16 |
- |
1 |
4-89053054-T-A |
c.279A>T |
p.L93F |
Missense |
4/16 |
- |
1 |
4-89053054-T-G |
c.279A>C |
p.L93F |
Missense |
4/16 |
- |
1 |
4-89053056-A-T |
c.277T>A |
p.L93I |
Missense |
4/16 |
- |
1 |
4-89053059-C-T |
c.274G>A |
p.V92I |
Missense |
4/16 |
- |
1 |
4-89053060-A-G |
c.273T>C |
p.D91= |
Synonymous |
4/16 |
- |
1 |
4-89053060-A-T |
c.273T>A |
p.D91E |
Missense |
4/16 |
- |
1 |
4-89053061-T-C |
c.272A>G |
p.D91G |
Missense |
4/16 |
- |
1 |
4-89053062-C-G |
c.271G>C |
p.D91H |
Missense |
4/16 |
- |
3 |
4-89053658-A-C |
c.263+70T>G |
- |
IntronicSNV |
- |
3/15 |
2 |
4-89053673-T-A |
c.263+55A>T |
- |
IntronicSNV |
- |
3/15 |
1 |
4-89053718-T-C |
c.263+10A>G |
- |
IntronicSNV |
- |
3/15 |
10 |
4-89053721-T-C |
c.263+7A>G |
- |
IntronicSNV |
- |
3/15 |
1 |
4-89053727-C-G |
c.263+1G>C |
- |
IntronicSNV |
- |
3/15 |
2 |
4-89053728-G-A |
c.263C>T |
p.S88L |
Missense |
3/16 |
- |
9 |
4-89053728-G-C |
c.263C>G |
p.S88W |
Missense |
3/16 |
- |
1 |
4-89053730-A-C |
c.261T>G |
p.S87= |
Synonymous |
3/16 |
- |
1 |
4-89053730-A-G |
c.261T>C |
p.S87= |
Synonymous |
3/16 |
- |
1 |
4-89053730-A-T |
c.261T>A |
p.S87= |
Synonymous |
3/16 |
- |
1 |
4-89053731-G-A |
c.260C>T |
p.S87F |
Missense |
3/16 |
- |
1 |
4-89053731-G-C |
c.260C>G |
p.S87C |
Missense |
3/16 |
- |
1 |
4-89053732-A-T |
c.259T>A |
p.S87T |
Missense |
3/16 |
- |
1 |
4-89053733-TT-CA |
c.257_258delinsTG |
p.K86M |
Missense |
3/16 |
- |
18 |
4-89053734-T-A |
c.257A>T |
p.K86I |
Missense |
3/16 |
- |
1 |
4-89053734-TT-GC |
c.256_257delinsGC |
p.K86A |
Missense |
3/16 |
- |
3 |
4-89053738-C-G |
c.253G>C |
p.G85R |
Missense |
3/16 |
- |
2 |
4-89053739-TCC-AAA |
c.250_252delinsTTT |
p.G84F |
Missense |
3/16 |
- |
1 |
4-89053739-TCC-ACA |
c.250_252delinsTGT |
p.G84C |
Missense |
3/16 |
- |
1 |
4-89053740-C-A |
c.251G>T |
p.G84V |
Missense |
3/16 |
- |
1 |
4-89053743-C-A |
c.248G>T |
p.G83V |
Missense |
3/16 |
- |
2 |
4-89053743-CC-AT |
c.247_248delinsAT |
p.G83I |
Missense |
3/16 |
- |
1 |
4-89053745-T-TG |
c.245dup |
p.G83Rfs*38 |
Frameshift |
3/16 |
- |
1 |
4-89053746-G-A |
c.245C>T |
p.T82I |
Missense |
3/16 |
- |
1 |
4-89053746-G-T |
c.245C>A |
p.T82K |
Missense |
3/16 |
- |
1 |
4-89053747-T-C |
c.244A>G |
p.T82A |
Missense |
3/16 |
- |
1 |
4-89053749-G-A |
c.242C>T |
p.P81L |
Missense |
3/16 |
- |
2 |
4-89053747-T-TG |
c.243dup |
p.T82Hfs*39 |
Frameshift |
3/16 |
- |
1 |
4-89053751-T-A |
c.240A>T |
p.G80= |
Synonymous |
3/16 |
- |
1 |
4-89053751-T-C |
c.240A>G |
p.G80= |
Synonymous |
3/16 |
- |
1 |
4-89053751-T-G |
c.240A>C |
p.G80= |
Synonymous |
3/16 |
- |
1 |
4-89053752-C-G |
c.239G>C |
p.G80A |
Missense |
3/16 |
- |
15 |
4-89053752-C-T |
c.239G>A |
p.G80E |
Missense |
3/16 |
- |
4 |
4-89053753-C-G |
c.238G>C |
p.G80R |
Missense |
3/16 |
- |
1 |
4-89053753-C-T |
c.238G>A |
p.G80R |
Missense |
3/16 |
- |
1 |
4-89053754-C-A |
c.237G>T |
p.L79= |
Synonymous |
3/16 |
- |
1 |
4-89053754-C-G |
c.237G>C |
p.L79= |
Synonymous |
3/16 |
- |
1 |
4-89053754-C-T |
c.237G>A |
p.L79= |
Synonymous |
3/16 |
- |
1 |
4-89053756-G-A |
c.235C>T |
p.L79= |
Synonymous |
3/16 |
- |
1 |
4-89053759-T-A |
c.232A>T |
p.I78F |
Missense |
3/16 |
- |
1 |
4-89053761-G-T |
c.230C>A |
p.A77D |
Missense |
3/16 |
- |
1 |
4-89053762-C-A |
c.229G>T |
p.A77S |
Missense |
3/16 |
- |
1 |
4-89053762-C-T |
c.229G>A |
p.A77T |
Missense |
3/16 |
- |
2 |
4-89053763-G-A |
c.228C>T |
p.N76= |
Synonymous |
3/16 |
- |
3 |
4-89053764-T-C |
c.227A>G |
p.N76S |
Missense |
3/16 |
- |
2 |
4-89053766-G-C |
c.225C>G |
p.L75= |
Synonymous |
3/16 |
- |
1 |
4-89053768-G-A |
c.223C>T |
p.L75F |
Missense |
3/16 |
- |
2 |
4-89053768-G-T |
c.223C>A |
p.L75I |
Missense |
3/16 |
- |
1 |
4-89053770-C-T |
c.221G>A |
p.G74D |
Missense |
3/16 |
- |
3 |
4-89053774-G-C |
c.217C>G |
p.P73A |
Missense |
3/16 |
- |
1 |
4-89053775-T-C |
c.216A>G |
p.K72= |
Synonymous |
3/16 |
- |
1 |
4-89053776-T-G |
c.215A>C |
p.K72T |
Missense |
3/16 |
- |
1 |
4-89053779-A-T |
c.212T>A |
p.M71K |
Missense |
3/16 |
- |
1 |
4-89053780-T-C |
c.211A>G |
p.M71V |
Missense |
3/16 |
- |
14 |
4-89053781-G-A |
c.210C>T |
p.I70= |
Synonymous |
3/16 |
- |
1 |
4-89053781-G-C |
c.210C>G |
p.I70M |
Missense |
3/16 |
- |
2 |
4-89053784-CCC-GCT |
c.205_207delinsAGC |
p.G69S |
Missense |
3/16 |
- |
1 |
4-89053786-C-A |
c.205G>T |
p.G69W |
Missense |
3/16 |
- |
1 |
4-89053790-G-A |
c.204-3C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
4-89053880-A-G |
c.204-93T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
4-89054332-T-C |
c.204-545A>G |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89054486-C-T |
c.204-699G>A |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89054512-G-A |
c.204-725C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
4-89054667-A-G |
c.204-880T>C |
- |
IntronicSNV |
- |
2/15 |
23 |
4-89055016-G-A |
c.204-1229C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
4-89055194-C-A |
c.204-1407G>T |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89055194-C-G |
c.204-1407G>C |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89055194-C-T |
c.204-1407G>A |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89055379-G-A |
c.204-1592C>T |
- |
IntronicSNV |
- |
2/15 |
12 |
4-89055485-A-G |
c.204-1698T>C |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89055710-G-C |
c.204-1923C>G |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89055829-G-A |
c.204-2042C>T |
- |
IntronicSNV |
- |
2/15 |
1 |
4-89056108-T-C |
c.204-2321A>G |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89056187-G-A |
c.204-2400C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89056715-G-A |
c.204-2928C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89056715-G-C |
c.204-2928C>G |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89057664-C-T |
c.203+3281G>A |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89057843-G-A |
c.203+3102C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89057843-G-C |
c.203+3102C>G |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89058220-A-C |
c.203+2725T>G |
- |
IntronicSNV |
- |
2/15 |
1 |
4-89059054-C-A |
c.203+1891G>T |
- |
IntronicSNV |
- |
2/15 |
1 |
4-89059054-C-T |
c.203+1891G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
4-89059087-A-G |
c.203+1858T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
4-89059087-A-T |
c.203+1858T>A |
- |
IntronicSNV |
- |
2/15 |
1 |
4-89059286-G-A |
c.203+1659C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89059334-G-A |
c.203+1611C>T |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89059819-C-T |
c.203+1126G>A |
- |
IntronicSNV |
- |
2/15 |
2 |
4-89059917-G-A |
c.203+1028C>T |
- |
IntronicSNV |
- |
2/15 |
4 |
4-89060751-C-T |
c.203+194G>A |
- |
IntronicSNV |
- |
2/15 |
3 |
4-89060777-G-A |
c.203+168C>T |
- |
IntronicSNV |
- |
2/15 |
3 |
4-89060908-A-G |
c.203+37T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
4-89060909-T-C |
c.203+36A>G |
- |
IntronicSNV |
- |
2/15 |
11 |
4-89060947-G-A |
c.201C>T |
p.I67= |
Synonymous |
2/16 |
- |
1 |
4-89060947-G-C |
c.201C>G |
p.I67M |
Missense |
2/16 |
- |
2 |
4-89060947-G-T |
c.201C>A |
p.I67= |
Synonymous |
2/16 |
- |
1 |
4-89060950-A-G |
c.198T>C |
p.N66= |
Synonymous |
2/16 |
- |
1 |
4-89060951-T-A |
c.197A>T |
p.N66I |
Missense |
2/16 |
- |
1 |
4-89060953-CG-AC |
c.194_195delinsGT |
p.S65C |
Missense |
2/16 |
- |
1 |
4-89060953-C-T |
c.195G>A |
p.S65= |
Synonymous |
2/16 |
- |
2 |
4-89060950-ATTCGATAATAT-A |
c.187_197del |
p.I63Yfs*54 |
Frameshift |
2/16 |
- |
3 |
4-89060954-G-A |
c.194C>T |
p.S65L |
Missense |
2/16 |
- |
5 |
4-89060954-GA-AT |
c.193_194delinsAT |
p.S65M |
Missense |
2/16 |
- |
1 |
4-89060955-A-T |
c.193T>A |
p.S65T |
Missense |
2/16 |
- |
1 |
4-89060957-AA-TG |
c.190_191delinsCA |
p.L64Q |
Missense |
2/16 |
- |
1 |
4-89060959-T-C |
c.189A>G |
p.I63M |
Missense |
2/16 |
- |
1 |
4-89060961-T-C |
c.187A>G |
p.I63V |
Missense |
2/16 |
- |
1 |
4-89060964-C-T |
c.184G>A |
p.E62K |
Missense |
2/16 |
- |
2 |
4-89060965-TT-CA |
c.182_183delinsTG |
p.K61M |
Missense |
2/16 |
- |
1 |
4-89060966-T-C |
c.182A>G |
p.K61R |
Missense |
2/16 |
- |
2 |
4-89060966-TT-CC |
c.181_182delinsGG |
p.K61G |
Missense |
2/16 |
- |
1 |
4-89060966-TT-GC |
c.181_182delinsGC |
p.K61A |
Missense |
2/16 |
- |
1 |
4-89060964-CT-C |
c.183del |
p.E62Kfs*10 |
Frameshift |
2/16 |
- |
1 |
4-89060968-C-T |
c.180G>A |
p.E60= |
Synonymous |
2/16 |
- |
1 |
4-89060968-CTC-AAA |
c.178_180delinsTTT |
p.E60F |
Missense |
2/16 |
- |
1 |
4-89060970-C-A |
c.178G>T |
p.E60* |
Nonsense |
2/16 |
- |
1 |
4-89060974-T-C |
c.174A>G |
p.P58= |
Synonymous |
2/16 |
- |
1 |
4-89060975-GG-TT |
c.172_173delinsAA |
p.P58K |
Missense |
2/16 |
- |
1 |
4-89060976-G-C |
c.172C>G |
p.P58A |
Missense |
2/16 |
- |
1 |
4-89060976-G-T |
c.172C>A |
p.P58T |
Missense |
2/16 |
- |
1 |
4-89060977-T-A |
c.171A>T |
p.K57N |
Missense |
2/16 |
- |
1 |
4-89060977-T-G |
c.171A>C |
p.K57N |
Missense |
2/16 |
- |
1 |
4-89060980-TC-AT |
c.167_168delinsAT |
p.R56H |
Missense |
2/16 |
- |
1 |
4-89060980-TCG-ACA |
c.166_168delinsTGT |
p.R56C |
Missense |
2/16 |
- |
2 |
4-89060981-C-A |
c.167G>T |
p.R56L |
Missense |
2/16 |
- |
1 |
4-89060981-C-T |
c.167G>A |
p.R56Q |
Missense |
2/16 |
- |
12 |
4-89060982-G-A |
c.166C>T |
p.R56* |
Nonsense |
2/16 |
- |
9 |
4-89060984-CA-GC |
c.163_164delinsGC |
p.C55A |
Missense |
2/16 |
- |
1 |
4-89060984-CA-TC |
c.163_164delinsGA |
p.C55D |
Missense |
2/16 |
- |
1 |
4-89060984-C-G |
c.164G>C |
p.C55S |
Missense |
2/16 |
- |
1 |
4-89060985-A-C |
c.163T>G |
p.C55G |
Missense |
2/16 |
- |
1 |
4-89060985-A-T |
c.163T>A |
p.C55S |
Missense |
2/16 |
- |
1 |
4-89060987-G-A |
c.161C>T |
p.P54L |
Missense |
2/16 |
- |
1 |
4-89060988-G-C |
c.160C>G |
p.P54A |
Missense |
2/16 |
- |
1 |
4-89060991-G-A |
c.157C>T |
p.L53= |
Synonymous |
2/16 |
- |
1 |
4-89060994-A-T |
c.154T>A |
p.F52I |
Missense |
2/16 |
- |
1 |
4-89060996-C-G |
c.152G>C |
p.G51A |
Missense |
2/16 |
- |
1 |
4-89060996-C-T |
c.152G>A |
p.G51D |
Missense |
2/16 |
- |
1 |
4-89060997-C-A |
c.151G>T |
p.G51C |
Missense |
2/16 |
- |
4 |
4-89060997-C-T |
c.151G>A |
p.G51S |
Missense |
2/16 |
- |
2 |
4-89060998-A-C |
c.150T>G |
p.S50R |
Missense |
2/16 |
- |
1 |
4-89060999-C-T |
c.149G>A |
p.S50N |
Missense |
2/16 |
- |
3 |
4-89060999-CT-GG |
c.148_149delinsCC |
p.S50P |
Missense |
2/16 |
- |
1 |
4-89061000-T-C |
c.148A>G |
p.S50G |
Missense |
2/16 |
- |
1 |
4-89061003-T-A |
c.145A>T |
p.K49* |
Nonsense |
2/16 |
- |
1 |
4-89061003-T-G |
c.145A>C |
p.K49Q |
Missense |
2/16 |
- |
1 |
4-89061007-T-C |
c.141A>G |
p.K47= |
Synonymous |
2/16 |
- |
1 |
4-89061008-T-C |
c.140A>G |
p.K47R |
Missense |
2/16 |
- |
1 |
4-89061011-A-C |
c.137T>G |
p.V46G |
Missense |
2/16 |
- |
1 |
4-89061013-TCG-CCA |
c.133_135delinsTGG |
p.R45W |
Missense |
2/16 |
- |
1 |
4-89061014-C-T |
c.134G>A |
p.R45Q |
Missense |
2/16 |
- |
2 |
4-89061015-G-A |
c.133C>T |
p.R45* |
Nonsense |
2/16 |
- |
3 |
4-89061015-G-C |
c.133C>G |
p.R45G |
Missense |
2/16 |
- |
1 |
4-89061017-T-A |
c.131A>T |
p.Y44F |
Missense |
2/16 |
- |
1 |
4-89061017-T-C |
c.131A>G |
p.Y44C |
Missense |
2/16 |
- |
2 |
4-89061018-A-G |
c.130T>C |
p.Y44H |
Missense |
2/16 |
- |
1 |
4-89061020-CA-GC |
c.127_128delinsGC |
p.C43A |
Missense |
2/16 |
- |
2 |
4-89061020-C-G |
c.128G>C |
p.C43S |
Missense |
2/16 |
- |
1 |
4-89061021-A-T |
c.127T>A |
p.C43S |
Missense |
2/16 |
- |
1 |
4-89061022-G-C |
c.126C>G |
p.I42M |
Missense |
2/16 |
- |
2 |
4-89061024-T-C |
c.124A>G |
p.I42V |
Missense |
2/16 |
- |
1 |
4-89061027-T-A |
c.121A>T |
p.N41Y |
Missense |
2/16 |
- |
1 |
4-89061028-A-C |
c.120T>G |
p.H40Q |
Missense |
2/16 |
- |
1 |
4-89061028-A-T |
c.120T>A |
p.H40Q |
Missense |
2/16 |
- |
1 |
4-89061029-T-A |
c.119A>T |
p.H40L |
Missense |
2/16 |
- |
1 |
4-89061029-T-C |
c.119A>G |
p.H40R |
Missense |
2/16 |
- |
1 |
4-89061031-A-G |
c.117T>C |
p.F39= |
Synonymous |
2/16 |
- |
1 |
4-89061032-A-G |
c.116T>C |
p.F39S |
Missense |
2/16 |
- |
1 |
4-89061034-AACT-A |
c.112_114del |
p.S38del |
InFrameDeletion |
2/16 |
- |
1 |
4-89061034-A-G |
c.114T>C |
p.S38= |
Synonymous |
2/16 |
- |
1 |
4-89061035-CT-GC |
c.112_113delinsGC |
p.S38A |
Missense |
2/16 |
- |
1 |
4-89061036-T-A |
c.112A>T |
p.S38C |
Missense |
2/16 |
- |
1 |
4-89061038-AA-GC |
c.109_110delinsGC |
p.L37A |
Missense |
2/16 |
- |
1 |
4-89061043-A-G |
c.105T>C |
p.A35= |
Synonymous |
2/16 |
- |
1 |
4-89061047-C-G |
c.101G>C |
p.G34A |
Missense |
2/16 |
- |
47 |
4-89061048-C-G |
c.100G>C |
p.G34R |
Missense |
2/16 |
- |
1 |
4-89061048-C-T |
c.100G>A |
p.G34R |
Missense |
2/16 |
- |
1 |
4-89061049-T-C |
c.99A>G |
p.E33= |
Synonymous |
2/16 |
- |
1 |
4-89061057-A-G |
c.91T>C |
p.F31L |
Missense |
2/16 |
- |
1 |
4-89061058-TGC-ACA |
c.88_90delinsTGT |
p.A30C |
Missense |
2/16 |
- |
1 |
4-89061059-G-A |
c.89C>T |
p.A30V |
Missense |
2/16 |
- |
1 |
4-89061060-C-A |
c.88G>T |
p.A30S |
Missense |
2/16 |
- |
2 |
4-89061060-C-G |
c.88G>C |
p.A30P |
Missense |
2/16 |
- |
1 |
4-89061061-C-A |
c.87G>T |
p.K29N |
Missense |
2/16 |
- |
1 |
4-89061061-C-G |
c.87G>C |
p.K29N |
Missense |
2/16 |
- |
1 |
4-89061062-T-C |
c.86A>G |
p.K29R |
Missense |
2/16 |
- |
1 |
4-89061066-G-A |
c.82C>T |
p.L28= |
Synonymous |
2/16 |
- |
1 |
4-89061069-C-T |
c.79G>A |
p.D27N |
Missense |
2/16 |
- |
3 |
4-89061071-T-C |
c.77A>G |
p.N26S |
Missense |
2/16 |
- |
3 |
4-89061072-T-C |
c.76A>G |
p.N26D |
Missense |
2/16 |
- |
1 |
4-89061074-G-A |
c.74C>T |
p.S25F |
Missense |
2/16 |
- |
5 |
4-89061074-GA-TT |
c.73_74delinsAA |
p.S25N |
Missense |
2/16 |
- |
1 |
4-89061075-A-C |
c.73T>G |
p.S25A |
Missense |
2/16 |
- |
1 |
4-89061077-G-A |
c.71C>T |
p.A24V |
Missense |
2/16 |
- |
1 |
4-89061078-C-G |
c.70G>C |
p.A24P |
Missense |
2/16 |
- |
1 |
4-89061078-C-T |
c.70G>A |
p.A24T |
Missense |
2/16 |
- |
1 |
4-89061079-T-C |
c.69A>G |
p.T23= |
Synonymous |
2/16 |
- |
1 |
4-89061080-G-A |
c.68C>T |
p.T23I |
Missense |
2/16 |
- |
1 |
4-89061082-C-A |
c.66G>T |
p.A22= |
Synonymous |
2/16 |
- |
2 |
4-89061082-C-G |
c.66G>C |
p.A22= |
Synonymous |
2/16 |
- |
3 |
4-89061082-C-T |
c.66G>A |
p.A22= |
Synonymous |
2/16 |
- |
3 |
4-89061083-G-A |
c.65C>T |
p.A22V |
Missense |
2/16 |
- |
3 |
4-89061084-C-A |
c.64G>T |
p.A22S |
Missense |
2/16 |
- |
2 |
4-89061084-C-T |
c.64G>A |
p.A22T |
Missense |
2/16 |
- |
5 |
4-89061085-G-A |
c.63C>T |
p.P21= |
Synonymous |
2/16 |
- |
2 |
4-89061085-G-C |
c.63C>G |
p.P21= |
Synonymous |
2/16 |
- |
1 |
4-89061085-G-T |
c.63C>A |
p.P21= |
Synonymous |
2/16 |
- |
1 |
4-89061086-G-T |
c.62C>A |
p.P21H |
Missense |
2/16 |
- |
1 |
4-89061087-G-A |
c.61C>T |
p.P21S |
Missense |
2/16 |
- |
2 |
4-89061084-CG-C |
c.63del |
p.A22Rfs*7 |
Frameshift |
2/16 |
- |
1 |
4-89061088-GAA-CAT |
c.58_60delinsATG |
p.F20M |
Missense |
2/16 |
- |
1 |
4-89061088-G-GA |
c.59dup |
p.A22Rfs*6 |
Frameshift |
2/16 |
- |
1 |
4-89061092-C-A |
c.56G>T |
p.G19V |
Missense |
2/16 |
- |
1 |
4-89061092-C-T |
c.56G>A |
p.G19D |
Missense |
2/16 |
- |
1 |
4-89061095-T-C |
c.53A>G |
p.N18S |
Missense |
2/16 |
- |
5 |
4-89061096-T-C |
c.52A>G |
p.N18D |
Missense |
2/16 |
- |
1 |
4-89061097-G-A |
c.51C>T |
p.T17= |
Synonymous |
2/16 |
- |
1 |
4-89061097-G-C |
c.51C>G |
p.T17= |
Synonymous |
2/16 |
- |
1 |
4-89061097-G-T |
c.51C>A |
p.T17= |
Synonymous |
2/16 |
- |
1 |
4-89061098-GGTGTTTCCTTGTGACACTGGGATA-G |
c.27_50del |
p.I10_T17del |
InFrameDeletion |
2/16 |
- |
1 |
4-89061099-T-A |
c.49A>T |
p.T17S |
Missense |
2/16 |
- |
1 |
4-89061099-T-C |
c.49A>G |
p.T17A |
Missense |
2/16 |
- |
1 |
4-89061104-C-A |
c.44G>T |
p.G15V |
Missense |
2/16 |
- |
1 |
4-89061105-C-G |
c.43G>C |
p.G15R |
Missense |
2/16 |
- |
1 |
4-89061105-C-T |
c.43G>A |
p.G15R |
Missense |
2/16 |
- |
1 |
4-89061106-T-C |
c.42A>G |
p.Q14= |
Synonymous |
2/16 |
- |
1 |
4-89061106-TTG-GTC |
c.40_42delinsGAC |
p.Q14D |
Missense |
2/16 |
- |
1 |
4-89061107-T-C |
c.41A>G |
p.Q14R |
Missense |
2/16 |
- |
1 |
4-89061108-G-T |
c.40C>A |
p.Q14K |
Missense |
2/16 |
- |
2 |
4-89061109-TG-AA |
c.38_39delinsTT |
p.S13F |
Missense |
2/16 |
- |
2 |
4-89061109-TG-AC |
c.38_39delinsGT |
p.S13C |
Missense |
2/16 |
- |
5 |
4-89061109-TGA-GTC |
c.37_39delinsGAC |
p.S13D |
Missense |
2/16 |
- |
5 |
4-89061110-G-A |
c.38C>T |
p.S13L |
Missense |
2/16 |
- |
1 |
4-89061110-GA-TC |
c.37_38inv |
p.S13E |
Missense |
2/16 |
- |
4 |
4-89061111-A-C |
c.37T>G |
p.S13A |
Missense |
2/16 |
- |
7 |
4-89061111-A-G |
c.37T>C |
p.S13P |
Missense |
2/16 |
- |
1 |
4-89061112-C-A |
c.36G>T |
p.V12= |
Synonymous |
2/16 |
- |
2 |
4-89061112-CAC-GAT |
c.34_36delinsATC |
p.V12I |
Missense |
2/16 |
- |
1 |
4-89061112-C-G |
c.36G>C |
p.V12= |
Synonymous |
2/16 |
- |
2 |
4-89061112-C-T |
c.36G>A |
p.V12= |
Synonymous |
2/16 |
- |
2 |
4-89061113-A-C |
c.35T>G |
p.V12G |
Missense |
2/16 |
- |
3 |
4-89061114-C-T |
c.34G>A |
p.V12M |
Missense |
2/16 |
- |
198 |
4-89061116-G-A |
c.32C>T |
p.P11L |
Missense |
2/16 |
- |
2 |
4-89061117-G-C |
c.31C>G |
p.P11A |
Missense |
2/16 |
- |
1 |
4-89061118-G-A |
c.30C>T |
p.I10= |
Synonymous |
2/16 |
- |
3 |
4-89061118-G-T |
c.30C>A |
p.I10= |
Synonymous |
2/16 |
- |
1 |
4-89061125-A-G |
c.23T>C |
p.V8A |
Missense |
2/16 |
- |
1 |
4-89061126-C-A |
c.22G>T |
p.V8F |
Missense |
2/16 |
- |
1 |
4-89061126-C-T |
c.22G>A |
p.V8I |
Missense |
2/16 |
- |
2 |
4-89061127-T-A |
c.21A>T |
p.E7D |
Missense |
2/16 |
- |
1 |
4-89061127-T-G |
c.21A>C |
p.E7D |
Missense |
2/16 |
- |
3 |
4-89061129-C-T |
c.19G>A |
p.E7K |
Missense |
2/16 |
- |
8 |
4-89061130-G-A |
c.18C>T |
p.V6= |
Synonymous |
2/16 |
- |
3 |
4-89061130-G-C |
c.18C>G |
p.V6= |
Synonymous |
2/16 |
- |
1 |
4-89061130-G-T |
c.18C>A |
p.V6= |
Synonymous |
2/16 |
- |
1 |
4-89061133-A-G |
c.15T>C |
p.N5= |
Synonymous |
2/16 |
- |
1 |
4-89061134-T-C |
c.14A>G |
p.N5S |
Missense |
2/16 |
- |
1 |
4-89061135-T-C |
c.13A>G |
p.N5D |
Missense |
2/16 |
- |
1 |
4-89061142-A-C |
c.6T>G |
p.S2= |
Synonymous |
2/16 |
- |
1 |
4-89061142-A-G |
c.6T>C |
p.S2= |
Synonymous |
2/16 |
- |
1 |
4-89061142-A-T |
c.6T>A |
p.S2= |
Synonymous |
2/16 |
- |
2 |
4-89061143-G-A |
c.5C>T |
p.S2F |
Missense |
2/16 |
- |
4 |
4-89061146-A-G |
c.2T>C |
p.M1? |
Missense |
2/16 |
- |
1 |
4-89061152-A-G |
c.-5T>C |
- |
5-UTRSNV |
2/16 |
- |
1 |
4-89061153-G-A |
c.-6C>T |
- |
5-UTRSNV |
2/16 |
- |
1 |
4-89061153-G-C |
c.-6C>G |
- |
5-UTRSNV |
2/16 |
- |
1 |
4-89061161-A-G |
c.-14T>C |
- |
5-UTRSNV |
2/16 |
- |
1 |
4-89061163-C-T |
c.-16G>A |
- |
5-UTRSNV |
2/16 |
- |
1 |
4-89061167-C-A |
c.-19-1G>T |
- |
IntronicSNV |
- |
1/15 |
2 |
4-89061265-C-A |
c.-19-99G>T |
- |
IntronicSNV |
- |
1/15 |
17 |
4-89061265-C-T |
c.-19-99G>A |
- |
IntronicSNV |
- |
1/15 |
17 |
4-89061329-C-T |
c.-182G>A |
- |
IntronicSNV |
1/16 |
- |
1 |
4-89061331-T-C |
c.-184A>G |
- |
IntronicSNV |
1/16 |
- |
1 |
4-89061331-T-G |
c.-184A>C |
- |
IntronicSNV |
1/16 |
- |
1 |
4-89061338-G-A |
c.-191C>T |
- |
IntronicSNV |
1/16 |
- |
1 |
4-89061338-G-C |
c.-191C>G |
- |
IntronicSNV |
1/16 |
- |
1 |
4-89061338-G-T |
c.-191C>A |
- |
IntronicSNV |
1/16 |
- |
1 |
4-89061351-A-G |
c.-204T>C |
- |
IntronicSNV |
1/16 |
- |
1 |
4-89079747-G-T |
c.-229C>A |
- |
IntronicSNV |
1/16 |
- |
1 |
4-89061391-C-T |
c.-244G>A |
- |
IntronicSNV |
1/16 |
- |
1 |
4-89061406-G-A |
c.-259C>T |
- |
IntronicSNV |
1/16 |
- |
1 |
4-89061407-G-C |
c.-260C>G |
- |
IntronicSNV |
1/16 |
- |
1 |
4-89061760-C-A |
c.-19-594G>T |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89061760-C-T |
c.-19-594G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89061802-A-G |
c.-19-636T>C |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89061910-C-A |
c.-19-744G>T |
- |
IntronicSNV |
- |
1/15 |
10 |
4-89061910-C-T |
c.-19-744G>A |
- |
IntronicSNV |
- |
1/15 |
10 |
4-89062075-A-G |
c.-19-909T>C |
- |
IntronicSNV |
- |
1/15 |
2 |
4-89062189-C-T |
c.-19-1023G>A |
- |
IntronicSNV |
- |
1/15 |
3 |
4-89062285-T-G |
c.-19-1119A>C |
- |
IntronicSNV |
- |
1/15 |
5 |
4-89062513-G-T |
c.-19-1347C>A |
- |
IntronicSNV |
- |
1/15 |
6 |
4-89062910-A-T |
c.-19-1744T>A |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89063242-A-G |
c.-19-2076T>C |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89063354-G-A |
c.-19-2188C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89063363-G-A |
c.-19-2197C>T |
- |
IntronicSNV |
- |
1/15 |
5 |
4-89063851-C-A |
c.-19-2685G>T |
- |
IntronicSNV |
- |
1/15 |
2 |
4-89063985-G-A |
c.-19-2819C>T |
- |
IntronicSNV |
- |
1/15 |
3 |
4-89064581-A-C |
c.-19-3415T>G |
- |
IntronicSNV |
- |
1/15 |
26 |
4-89064602-C-T |
c.-19-3436G>A |
- |
IntronicSNV |
- |
1/15 |
13 |
4-89065017-T-G |
c.-19-3851A>C |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89065076-C-T |
c.-19-3910G>A |
- |
IntronicSNV |
- |
1/15 |
2 |
4-89065307-C-T |
c.-19-4141G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89065353-C-A |
c.-19-4187G>T |
- |
IntronicSNV |
- |
1/15 |
2 |
4-89065439-T-C |
c.-19-4273A>G |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89065797-G-A |
c.-19-4631C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89065868-A-C |
c.-19-4702T>G |
- |
IntronicSNV |
- |
1/15 |
2 |
4-89066075-C-T |
c.-19-4909G>A |
- |
IntronicSNV |
- |
1/15 |
7 |
4-89066184-A-G |
c.-19-5018T>C |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89066486-C-A |
c.-19-5320G>T |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89066689-C-T |
c.-19-5523G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89066690-G-A |
c.-19-5524C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89066690-G-C |
c.-19-5524C>G |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89066690-G-T |
c.-19-5524C>A |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89066715-C-A |
c.-19-5549G>T |
- |
IntronicSNV |
- |
1/15 |
4 |
4-89067492-G-GT |
c.-19-6327_-19-6326insA |
- |
IntronicInsertion |
- |
1/15 |
2 |
4-89067526-C-T |
c.-19-6360G>A |
- |
IntronicSNV |
- |
1/15 |
4 |
4-89067775-A-G |
c.-19-6609T>C |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89067775-A-T |
c.-19-6609T>A |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89067881-C-T |
c.-19-6715G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89068007-C-A |
c.-19-6841G>T |
- |
IntronicSNV |
- |
1/15 |
2 |
4-89068007-C-G |
c.-19-6841G>C |
- |
IntronicSNV |
- |
1/15 |
2 |
4-89068257-G-A |
c.-19-7091C>T |
- |
IntronicSNV |
- |
1/15 |
2 |
4-89068455-G-A |
c.-19-7289C>T |
- |
IntronicSNV |
- |
1/15 |
8 |
4-89068455-G-T |
c.-19-7289C>A |
- |
IntronicSNV |
- |
1/15 |
8 |
4-89068498-G-A |
c.-19-7332C>T |
- |
IntronicSNV |
- |
1/15 |
3 |
4-89068737-T-C |
c.-19-7571A>G |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89068738-G-A |
c.-19-7572C>T |
- |
IntronicSNV |
- |
1/15 |
3 |
4-89068738-G-T |
c.-19-7572C>A |
- |
IntronicSNV |
- |
1/15 |
3 |
4-89068761-T-A |
c.-19-7595A>T |
- |
IntronicSNV |
- |
1/15 |
2 |
4-89068761-T-C |
c.-19-7595A>G |
- |
IntronicSNV |
- |
1/15 |
2 |
4-89069328-T-C |
c.-19-8162A>G |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89069406-T-C |
c.-19-8240A>G |
- |
IntronicSNV |
- |
1/15 |
9 |
4-89069510-G-A |
c.-19-8344C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89069510-G-C |
c.-19-8344C>G |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89069527-T-A |
c.-19-8361A>T |
- |
IntronicSNV |
- |
1/15 |
2 |
4-89069542-A-G |
c.-19-8376T>C |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89069631-T-A |
c.-19-8465A>T |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89069631-T-G |
c.-19-8465A>C |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89070253-G-A |
c.-19-9087C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
4-89070392-A-C |
c.-20+9146T>G |
- |
intron_variant |
- |
1/15 |
1 |
4-89070392-A-G |
c.-20+9146T>C |
- |
intron_variant |
- |
1/15 |
1 |
4-89070684-G-A |
c.-20+8854C>T |
- |
intron_variant |
- |
1/15 |
2 |
4-89070847-T-C |
c.-20+8691A>G |
- |
intron_variant |
- |
1/15 |
2 |
4-89070862-G-A |
c.-20+8676C>T |
- |
intron_variant |
- |
1/15 |
2 |
4-89071104-G-A |
c.-20+8434C>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89071169-C-T |
c.-20+8369G>A |
- |
intron_variant |
- |
1/15 |
2 |
4-89071209-G-A |
c.-20+8329C>T |
- |
intron_variant |
- |
1/15 |
2 |
4-89071338-G-A |
c.-20+8200C>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89071564-A-C |
c.-20+7974T>G |
- |
intron_variant |
- |
1/15 |
1 |
4-89072018-C-T |
c.-20+7520G>A |
- |
intron_variant |
- |
1/15 |
1 |
4-89072620-G-A |
c.-20+6918C>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89072620-G-C |
c.-20+6918C>G |
- |
intron_variant |
- |
1/15 |
1 |
4-89072620-G-T |
c.-20+6918C>A |
- |
intron_variant |
- |
1/15 |
1 |
4-89072808-G-A |
c.-20+6730C>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89073197-A-C |
c.-20+6341T>G |
- |
intron_variant |
- |
1/15 |
2 |
4-89073197-A-G |
c.-20+6341T>C |
- |
intron_variant |
- |
1/15 |
2 |
4-89073289-T-C |
c.-20+6249A>G |
- |
intron_variant |
- |
1/15 |
2 |
4-89073397-C-A |
c.-20+6141G>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89073699-G-C |
c.-20+5839C>G |
- |
intron_variant |
- |
1/15 |
1 |
4-89073848-A-G |
c.-20+5690T>C |
- |
intron_variant |
- |
1/15 |
1 |
4-89073849-T-C |
c.-20+5689A>G |
- |
intron_variant |
- |
1/15 |
1 |
4-89074339-G-A |
c.-20+5199C>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89074405-T-C |
c.-20+5133A>G |
- |
intron_variant |
- |
1/15 |
2 |
4-89074444-T-C |
c.-20+5094A>G |
- |
intron_variant |
- |
1/15 |
1 |
4-89074546-T-A |
c.-20+4992A>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89074546-T-C |
c.-20+4992A>G |
- |
intron_variant |
- |
1/15 |
1 |
4-89074603-A-G |
c.-20+4935T>C |
- |
intron_variant |
- |
1/15 |
1 |
4-89074660-G-T |
c.-20+4878C>A |
- |
intron_variant |
- |
1/15 |
1 |
4-89074667-G-A |
c.-20+4871C>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89074667-G-C |
c.-20+4871C>G |
- |
intron_variant |
- |
1/15 |
1 |
4-89074674-C-A |
c.-20+4864G>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89074674-C-T |
c.-20+4864G>A |
- |
intron_variant |
- |
1/15 |
1 |
4-89074686-T-A |
c.-20+4852A>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89074686-T-C |
c.-20+4852A>G |
- |
intron_variant |
- |
1/15 |
1 |
4-89074687-T-A |
c.-20+4851A>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89074687-T-G |
c.-20+4851A>C |
- |
intron_variant |
- |
1/15 |
1 |
4-89074693-T-C |
c.-20+4845A>G |
- |
intron_variant |
- |
1/15 |
1 |
4-89074694-G-C |
c.-20+4844C>G |
- |
intron_variant |
- |
1/15 |
1 |
4-89074709-T-G |
c.-20+4829A>C |
- |
intron_variant |
- |
1/15 |
1 |
4-89074771-C-G |
c.-20+4767G>C |
- |
intron_variant |
- |
1/15 |
2 |
4-89074788-A-T |
c.-20+4750T>A |
- |
intron_variant |
- |
1/15 |
1 |
4-89074808-A-G |
c.-20+4730T>C |
- |
intron_variant |
- |
1/15 |
2 |
4-89074808-A-T |
c.-20+4730T>A |
- |
intron_variant |
- |
1/15 |
2 |
4-89074836-T-A |
c.-20+4702A>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89074836-T-C |
c.-20+4702A>G |
- |
intron_variant |
- |
1/15 |
1 |
4-89075031-A-G |
c.-20+4507T>C |
- |
intron_variant |
- |
1/15 |
1 |
4-89075223-T-C |
c.-20+4315A>G |
- |
intron_variant |
- |
1/15 |
2 |
4-89075239-T-C |
c.-20+4299A>G |
- |
intron_variant |
- |
1/15 |
2 |
4-89075623-C-A |
c.-20+3915G>T |
- |
intron_variant |
- |
1/15 |
3 |
4-89076026-T-A |
c.-20+3512A>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89076133-C-T |
c.-20+3405G>A |
- |
intron_variant |
- |
1/15 |
1 |
4-89077481-C-G |
c.-20+2057G>C |
- |
intron_variant |
- |
1/15 |
1 |
4-89077481-C-T |
c.-20+2057G>A |
- |
intron_variant |
- |
1/15 |
1 |
4-89077973-C-T |
c.-20+1565G>A |
- |
intron_variant |
- |
1/15 |
1 |
4-89077999-G-C |
c.-20+1539C>G |
- |
intron_variant |
- |
1/15 |
1 |
4-89078060-C-A |
c.-20+1478G>T |
- |
intron_variant |
- |
1/15 |
1 |
4-89078060-C-T |
c.-20+1478G>A |
- |
intron_variant |
- |
1/15 |
1 |
4-89078617-T-G |
c.-20+921A>C |
- |
intron_variant |
- |
1/15 |
1 |
4-89078924-T-A |
c.-20+614A>T |
- |
intron_variant |
- |
1/15 |
32 |
4-89078924-T-C |
c.-20+614A>G |
- |
intron_variant |
- |
1/15 |
32 |
4-89079386-T-A |
c.-20+152A>T |
- |
intron_variant |
- |
1/15 |
9 |
4-89079386-T-C |
c.-20+152A>G |
- |
intron_variant |
- |
1/15 |
9 |
4-89079632-G-A |
c.-114C>T |
- |
5_prime_UTR_variant |
1/16 |
- |
2 |
4-89079682-C-T |
c.-164G>A |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079689-A-C |
c.-171T>G |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079695-C-T |
c.-177G>A |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079696-C-A |
c.-178G>T |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079696-C-T |
c.-178G>A |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079701-A-T |
c.-183T>A |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079710-G-T |
c.-192C>A |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079714-G-A |
c.-196C>T |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079732-G-C |
c.-214C>G |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079740-A-G |
c.-222T>C |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079745-C-A |
c.-227G>T |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079745-C-G |
c.-227G>C |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079745-C-T |
c.-227G>A |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079750-T-G |
c.-232A>C |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079753-T-C |
c.-235A>G |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079767-A-G |
c.-249T>C |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079772-C-T |
c.-254G>A |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079780-G-A |
c.-262C>T |
- |
5_prime_UTR_variant |
1/16 |
- |
2 |
4-89079784-C-A |
c.-266G>T |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079784-C-T |
c.-266G>A |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079791-T-C |
c.-273A>G |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |
4-89079791-T-G |
c.-273A>C |
- |
5_prime_UTR_variant |
1/16 |
- |
1 |