SLC9A9

SLC9A9 solute carrier family 9 member A9

Annotation transcript: NM_173653.4

1038 unique variant annotations were identified in 452 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
3-142984246-A-G c.*1298T>C - 3-UTRSNV 16/16 - 2
3-142984522-C-T c.*1022G>A - 3-UTRSNV 16/16 - 1
3-142984711-T-C c.*833A>G - 3-UTRSNV 16/16 - 1
3-142985100-G-A c.*444C>T - 3-UTRSNV 16/16 - 5
3-142985100-G-T c.*444C>A - 3-UTRSNV 16/16 - 5
3-142985288-T-C c.*256A>G - 3-UTRSNV 16/16 - 3
3-142985304-C-T c.*240G>A - 3-UTRSNV 16/16 - 1
3-142985547-AT-A c.1934del p.N645Ifs*13 Frameshift 16/16 - 1
3-142985551-A-C c.1931T>G p.L644W Missense 16/16 - 1
3-142985557-G-A c.1925C>T p.S642F Missense 16/16 - 1
3-142985557-G-T c.1925C>A p.S642Y Missense 16/16 - 1
3-142985559-T-TA c.1922_1923insT p.Q641Hfs*29 Frameshift 16/16 - 1
3-142985561-G-A c.1921C>T p.Q641* Nonsense 16/16 - 1
3-142985565-C-G c.1917G>C p.L639F Missense 16/16 - 1
3-142985568-A-C c.1914T>G p.T638= Synonymous 16/16 - 1
3-142985568-A-G c.1914T>C p.T638= Synonymous 16/16 - 1
3-142985568-A-T c.1914T>A p.T638= Synonymous 16/16 - 1
3-142985569-G-T c.1913C>A p.T638N Missense 16/16 - 5
3-142985569-GT-G c.1912del p.T638Lfs*7 Frameshift 16/16 - 1
3-142985572-T-A c.1910A>T p.Q637L Missense 16/16 - 2
3-142985573-G-A c.1909C>T p.Q637* Nonsense 16/16 - 2
3-142985573-G-T c.1909C>A p.Q637K Missense 16/16 - 2
3-142985575-T-C c.1907A>G p.E636G Missense 16/16 - 3
3-142985576-C-T c.1906G>A p.E636K Missense 16/16 - 2
3-142985585-G-A c.1897C>T p.L633F Missense 16/16 - 1
3-142985589-A-C c.1893T>G p.Y631* Nonsense 16/16 - 3
3-142985589-A-G c.1893T>C p.Y631= Synonymous 16/16 - 1
3-142985589-A-T c.1893T>A p.Y631* Nonsense 16/16 - 6
3-142985593-C-T c.1889G>A p.G630D Missense 16/16 - 2
3-142985598-C-A c.1884G>T p.L628= Synonymous 16/16 - 2
3-142985598-C-G c.1884G>C p.L628= Synonymous 16/16 - 1
3-142985598-C-T c.1884G>A p.L628= Synonymous 16/16 - 1
3-142985600-G-A c.1882C>T p.L628= Synonymous 16/16 - 1
3-142985600-G-C c.1882C>G p.L628V Missense 16/16 - 1
3-142985602-C-A c.1880G>T p.G627V Missense 16/16 - 5
3-142985603-C-A c.1879G>T p.G627C Missense 16/16 - 7
3-142985603-C-T c.1879G>A p.G627S Missense 16/16 - 2
3-142985604-G-A c.1878C>T p.L626= Synonymous 16/16 - 1
3-142985611-C-A c.1871G>T p.G624V Missense 16/16 - 6
3-142985611-C-T c.1871G>A p.G624E Missense 16/16 - 3
3-142985612-C-T c.1870G>A p.G624R Missense 16/16 - 3
3-142985613-C-A c.1869G>T p.E623D Missense 16/16 - 2
3-142985613-C-G c.1869G>C p.E623D Missense 16/16 - 2
3-142985613-C-T c.1869G>A p.E623= Synonymous 16/16 - 1
3-142985615-C-G c.1867G>C p.E623Q Missense 16/16 - 1
3-142985615-C-T c.1867G>A p.E623K Missense 16/16 - 1
3-142985619-A-C c.1863T>G p.I621M Missense 16/16 - 1
3-142985627-C-T c.1855G>A p.E619K Missense 16/16 - 8
3-142985628-C-A c.1854G>T p.K618N Missense 16/16 - 1
3-142985628-C-T c.1854G>A p.K618= Synonymous 16/16 - 4
3-142985630-T-C c.1852A>G p.K618E Missense 16/16 - 1
3-142985636-G-C c.1846C>G p.P616A Missense 16/16 - 1
3-142985637-C-A c.1845G>T p.T615= Synonymous 16/16 - 1
3-142985637-C-G c.1845G>C p.T615= Synonymous 16/16 - 1
3-142985637-C-T c.1845G>A p.T615= Synonymous 16/16 - 1
3-142985638-G-A c.1844C>T p.T615M Missense 16/16 - 3
3-142985640-C-T c.1842G>A p.Q614= Synonymous 16/16 - 2
3-142985641-TG-T c.1840del p.Q614Rfs*31 Frameshift 16/16 - 1
3-142985645-G-A c.1837C>T p.P613S Missense 16/16 - 1
3-142985646-T-A c.1836A>T p.S612= Synonymous 16/16 - 1
3-142985646-T-C c.1836A>G p.S612= Synonymous 16/16 - 1
3-142985646-T-G c.1836A>C p.S612= Synonymous 16/16 - 1
3-142985652-T-C c.1830A>G p.K610= Synonymous 16/16 - 6
3-142985654-T-A c.1828A>T p.K610* Nonsense 16/16 - 6
3-142985655-C-T c.1827G>A p.Q609= Synonymous 16/16 - 1
3-142985657-G-T c.1825C>A p.Q609K Missense 16/16 - 3
3-142985658-G-A c.1824C>T p.D608= Synonymous 16/16 - 1
3-142985659-T-A c.1823A>T p.D608V Missense 16/16 - 1
3-142985661-C-A c.1821G>T p.L607= Synonymous 16/16 - 1
3-142985661-C-G c.1821G>C p.L607= Synonymous 16/16 - 1
3-142985661-C-T c.1821G>A p.L607= Synonymous 16/16 - 2
3-142985663-G-A c.1819C>T p.L607= Synonymous 16/16 - 2
3-142985667-T-A c.1815A>T p.L605= Synonymous 16/16 - 1
3-142985667-T-C c.1815A>G p.L605= Synonymous 16/16 - 1
3-142985667-T-G c.1815A>C p.L605= Synonymous 16/16 - 1
3-142985669-G-A c.1813C>T p.L605= Synonymous 16/16 - 2
3-142985670-C-A c.1812G>T p.R604S Missense 16/16 - 1
3-142985674-G-T c.1808C>A p.A603E Missense 16/16 - 4
3-142985677-G-A c.1805C>T p.P602L Missense 16/16 - 1
3-142985680-G-A c.1802C>T p.P601L Missense 16/16 - 1
3-142985680-G-C c.1802C>G p.P601R Missense 16/16 - 1
3-142985681-G-A c.1801C>T p.P601S Missense 16/16 - 2
3-142985681-G-T c.1801C>A p.P601T Missense 16/16 - 1
3-142985683-C-A c.1799G>T p.S600I Missense 16/16 - 1
3-142985684-T-C c.1798A>G p.S600G Missense 16/16 - 1
3-142985684-T-G c.1798A>C p.S600R Missense 16/16 - 1
3-142985693-A-G c.1789T>C p.S597P Missense 16/16 - 1
3-142985695-G-A c.1787C>T p.S596F Missense 16/16 - 1
3-142985691-TGAG-T c.1788_1790del p.S597del InFrameDeletion 16/16 - 1
3-142985705-C-A c.1777G>T p.E593* Nonsense 16/16 - 1
3-142985705-C-T c.1777G>A p.E593K Missense 16/16 - 1
3-142985706-C-A c.1776G>T p.Q592H Missense 16/16 - 1
3-142985706-C-G c.1776G>C p.Q592H Missense 16/16 - 1
3-142985707-T-C c.1775A>G p.Q592R Missense 16/16 - 1
3-142985708-G-T c.1774C>A p.Q592K Missense 16/16 - 3
3-142985715-T-A c.1767A>T p.I589= Synonymous 16/16 - 1
3-142985715-T-G c.1767A>C p.I589= Synonymous 16/16 - 1
3-142985717-T-A c.1765A>T p.I589L Missense 16/16 - 2
3-142985717-T-C c.1765A>G p.I589V Missense 16/16 - 17
3-142985717-T-G c.1765A>C p.I589L Missense 16/16 - 4
3-142985719-G-A c.1763C>T p.A588V Missense 16/16 - 1
3-142985726-C-A c.1756G>T p.E586* Nonsense 16/16 - 3
3-142985726-C-T c.1756G>A p.E586K Missense 16/16 - 3
3-142985730-C-T c.1752G>A p.Q584= Synonymous 16/16 - 1
3-142985738-C-T c.1744G>A p.V582I Missense 16/16 - 1
3-142985751-A-G c.1731T>C p.D577= Synonymous 16/16 - 1
3-142985752-T-A c.1730A>T p.D577V Missense 16/16 - 1
3-142985753-C-T c.1729G>A p.D577N Missense 16/16 - 3
3-142985755-T-A c.1727A>T p.D576V Missense 16/16 - 1
3-142985757-C-T c.1725G>A p.E575= Synonymous 16/16 - 1
3-142985759-C-A c.1723G>T p.E575* Nonsense 16/16 - 1
3-142985759-C-G c.1723G>C p.E575Q Missense 16/16 - 1
3-142985759-CT-C c.1722del p.E575Rfs*8 Frameshift 16/16 - 1
3-142985890-T-A c.1711-119A>T - IntronicSNV - 15/15 3
3-142987718-C-A c.1709G>T p.G570V Missense 15/16 - 2
3-142987715-AC-A c.1710+1del - Frameshift 15/16 - 1
3-142987719-C-G c.1708G>C p.G570R Missense 15/16 - 2
3-142987719-C-T c.1708G>A p.G570R Missense 15/16 - 2
3-142987721-T-A c.1706A>T p.Y569F Missense 15/16 - 1
3-142987722-A-T c.1705T>A p.Y569N Missense 15/16 - 1
3-142987725-C-A c.1702G>T p.A568S Missense 15/16 - 2
3-142987725-C-G c.1702G>C p.A568P Missense 15/16 - 1
3-142987725-C-T c.1702G>A p.A568T Missense 15/16 - 1
3-142987727-T-C c.1700A>G p.Q567R Missense 15/16 - 1
3-142987730-G-T c.1697C>A p.P566H Missense 15/16 - 1
3-142987736-G-A c.1691C>T p.T564I Missense 15/16 - 1
3-142987736-G-C c.1691C>G p.T564S Missense 15/16 - 1
3-142987741-C-A c.1686G>T p.L562= Synonymous 15/16 - 1
3-142987741-C-G c.1686G>C p.L562= Synonymous 15/16 - 1
3-142987741-C-T c.1686G>A p.L562= Synonymous 15/16 - 1
3-142987743-G-A c.1684C>T p.L562= Synonymous 15/16 - 3
3-142987748-G-A c.1679C>T p.S560F Missense 15/16 - 1
3-142987754-G-A c.1673C>T p.P558L Missense 15/16 - 4
3-142987755-G-A c.1672C>T p.P558S Missense 15/16 - 1
3-142987755-GACC-G c.1669_1671del p.G557del InFrameDeletion 15/16 - 1
3-142987761-A-T c.1666T>A p.C556S Missense 15/16 - 1
3-142987763-C-T c.1664G>A p.W555* Nonsense 15/16 - 1
3-142987767-C-T c.1660G>A p.E554K Missense 15/16 - 6
3-142987769-GG-AA c.1657_1658delinsTT p.P553F Missense 15/16 - 1
3-142987769-G-T c.1658C>A p.P553H Missense 15/16 - 1
3-142987779-T-C c.1648A>G p.T550A Missense 15/16 - 3
3-142987786-C-T c.1641G>A p.P547= Synonymous 15/16 - 1
3-142987787-G-A c.1640C>T p.P547L Missense 15/16 - 1
3-142987790-G-C c.1637C>G p.P546R Missense 15/16 - 1
3-142987790-G-T c.1637C>A p.P546H Missense 15/16 - 1
3-142987791-G-A c.1636C>T p.P546S Missense 15/16 - 1
3-142987794-C-T c.1633G>A p.G545S Missense 15/16 - 1
3-142987796-G-T c.1631C>A p.S544Y Missense 15/16 - 2
3-142987800-G-T c.1627C>A p.H543N Missense 15/16 - 3
3-142987801-G-A c.1626C>T p.T542= Synonymous 15/16 - 2
3-142987801-G-C c.1626C>G p.T542= Synonymous 15/16 - 2
3-142987802-G-A c.1625C>T p.T542I Missense 15/16 - 2
3-142987807-A-G c.1620T>C p.I540= Synonymous 15/16 - 1
3-142987807-A-T c.1620T>A p.I540= Synonymous 15/16 - 1
3-142987808-A-G c.1619T>C p.I540T Missense 15/16 - 1
3-142987808-A-T c.1619T>A p.I540N Missense 15/16 - 1
3-142987809-T-C c.1618A>G p.I540V Missense 15/16 - 5
3-142987912-C-T c.1605-90G>A - IntronicSNV - 14/15 5
3-143005029-T-C c.1605-17207A>G - IntronicSNV - 14/15 1
3-143009413-A-G c.1605-21591T>C - IntronicSNV - 14/15 1
3-143017187-T-C c.1605-29365A>G - IntronicSNV - 14/15 1
3-143018066-A-T c.1605-30244T>A - IntronicSNV - 14/15 1
3-143020870-T-C c.1605-33048A>G - IntronicSNV - 14/15 1
3-143024067-G-A c.1605-36245C>T - IntronicSNV - 14/15 1
3-143028187-C-T c.1605-40365G>A - IntronicSNV - 14/15 1
3-143029589-G-A c.1605-41767C>T - IntronicSNV - 14/15 1
3-143037685-C-A c.1604+44641G>T - IntronicSNV - 14/15 1
3-143038713-G-A c.1604+43613C>T - IntronicSNV - 14/15 1
3-143039019-C-T c.1604+43307G>A - IntronicSNV - 14/15 1
3-143044216-C-T c.1604+38110G>A - IntronicSNV - 14/15 1
3-143046351-G-T c.1604+35975C>A - IntronicSNV - 14/15 1
3-143046793-C-G c.1604+35533G>C - IntronicSNV - 14/15 1
3-143048771-AT-A c.1604+33554del - IntronicDeletion - 14/15 1
3-143049769-T-C c.1604+32557A>G - IntronicSNV - 14/15 1
3-143055707-G-A c.1604+26619C>T - IntronicSNV - 14/15 1
3-143056467-G-A c.1604+25859C>T - IntronicSNV - 14/15 1
3-143056467-G-T c.1604+25859C>A - IntronicSNV - 14/15 1
3-143057379-G-A c.1604+24947C>T - IntronicSNV - 14/15 2
3-143060580-A-C c.1604+21746T>G - IntronicSNV - 14/15 1
3-143060714-AT-A c.1604+21611del - IntronicDeletion - 14/15 1
3-143062327-C-T c.1604+19999G>A - IntronicSNV - 14/15 1
3-143063253-C-G c.1604+19073G>C - IntronicSNV - 14/15 1
3-143065314-A-G c.1604+17012T>C - IntronicSNV - 14/15 1
3-143068250-A-G c.1604+14076T>C - IntronicSNV - 14/15 1
3-143069304-T-C c.1604+13022A>G - IntronicSNV - 14/15 1
3-143074614-C-T c.1604+7712G>A - IntronicSNV - 14/15 1
3-143080742-G-A c.1604+1584C>T - IntronicSNV - 14/15 1
3-143080835-A-C c.1604+1491T>G - IntronicSNV - 14/15 1
3-143082012-T-G c.1604+314A>C - IntronicSNV - 14/15 2
3-143082321-G-A c.1604+5C>T - IntronicSNV - 14/15 1
3-143082333-C-T c.1597G>A p.D533N Missense 14/16 - 2
3-143082337-G-A c.1593C>T p.S531= Synonymous 14/16 - 1
3-143082338-C-T c.1592G>A p.S531N Missense 14/16 - 1
3-143082340-A-G c.1590T>C p.Y530= Synonymous 14/16 - 1
3-143082354-A-T c.1576T>A p.F526I Missense 14/16 - 1
3-143082356-A-G c.1574T>C p.L525P Missense 14/16 - 1
3-143082359-C-T c.1571G>A p.R524Q Missense 14/16 - 1
3-143082360-G-A c.1570C>T p.R524W Missense 14/16 - 2
3-143082363-C-A c.1567G>T p.A523S Missense 14/16 - 3
3-143082363-C-T c.1567G>A p.A523T Missense 14/16 - 1
3-143082369-C-G c.1561G>C p.E521Q Missense 14/16 - 1
3-143082373-T-G c.1557A>C p.K519N Missense 14/16 - 2
3-143082376-C-A c.1554G>T p.T518= Synonymous 14/16 - 2
3-143082376-C-G c.1554G>C p.T518= Synonymous 14/16 - 2
3-143082376-C-T c.1554G>A p.T518= Synonymous 14/16 - 2
3-143082377-G-A c.1553C>T p.T518M Missense 14/16 - 2
3-143082379-C-A c.1551G>T p.M517I Missense 14/16 - 2
3-143082379-C-G c.1551G>C p.M517I Missense 14/16 - 1
3-143082379-C-T c.1551G>A p.M517I Missense 14/16 - 1
3-143082381-T-C c.1549A>G p.M517V Missense 14/16 - 1
3-143082382-G-A c.1548C>T p.N516= Synonymous 14/16 - 1
3-143082391-C-A c.1539G>T p.L513F Missense 14/16 - 1
3-143082396-T-G c.1534A>C p.N512H Missense 14/16 - 3
3-143082397-A-G c.1533T>C p.N511= Synonymous 14/16 - 1
3-143082401-G-A c.1529C>T p.A510V Missense 14/16 - 3
3-143082405-C-A c.1525G>T p.E509* Nonsense 14/16 - 2
3-143082405-C-T c.1525G>A p.E509K Missense 14/16 - 2
3-143085345-G-A c.1525-2940C>T - IntronicSNV - 13/15 1
3-143086243-A-G c.1525-3838T>C - IntronicSNV - 13/15 1
3-143086243-A-T c.1525-3838T>A - IntronicSNV - 13/15 1
3-143086325-C-T c.1525-3920G>A - IntronicSNV - 13/15 1
3-143090698-C-T c.1525-8293G>A - IntronicSNV - 13/15 1
3-143096507-A-T c.1524+4395T>A - IntronicSNV - 13/15 1
3-143100667-A-G c.1524+235T>C - IntronicSNV - 13/15 1
3-143100850-G-A c.1524+52C>T - IntronicSNV - 13/15 1
3-143100871-T-C c.1524+31A>G - IntronicSNV - 13/15 1
3-143100899-T-C c.1524+3A>G - IntronicSNV - 13/15 1
3-143100901-C-T c.1524+1G>A - IntronicSNV - 13/15 1
3-143100907-G-A c.1519C>T p.H507Y Missense 13/16 - 1
3-143100912-G-C c.1514C>G p.S505* Nonsense 13/16 - 1
3-143100912-G-T c.1514C>A p.S505* Nonsense 13/16 - 1
3-143100915-G-A c.1511C>T p.S504F Missense 13/16 - 1
3-143100918-G-A c.1508C>T p.P503L Missense 13/16 - 2
3-143100916-AG-A c.1509del p.S504Pfs*14 Frameshift 13/16 - 1
3-143100920-G-A c.1506C>T p.D502= Synonymous 13/16 - 1
3-143100921-T-C c.1505A>G p.D502G Missense 13/16 - 1
3-143100923-C-T c.1503G>A p.E501= Synonymous 13/16 - 1
3-143100929-C-A c.1497G>T p.L499= Synonymous 13/16 - 1
3-143100929-C-G c.1497G>C p.L499= Synonymous 13/16 - 1
3-143100929-C-T c.1497G>A p.L499= Synonymous 13/16 - 1
3-143100931-G-A c.1495C>T p.L499= Synonymous 13/16 - 1
3-143100940-C-T c.1486G>A p.D496N Missense 13/16 - 6
3-143100942-A-G c.1484T>C p.L495P Missense 13/16 - 1
3-143100942-AG-A c.1483del p.L495Wfs*5 Frameshift 13/16 - 1
3-143100949-C-T c.1477G>A p.V493M Missense 13/16 - 6
3-143100950-G-A c.1476C>T p.G492= Synonymous 13/16 - 5
3-143100950-G-C c.1476C>G p.G492= Synonymous 13/16 - 1
3-143100950-GC-CT c.1475_1476delinsAG p.G492E Missense 13/16 - 1
3-143100950-G-T c.1476C>A p.G492= Synonymous 13/16 - 1
3-143100951-C-A c.1475G>T p.G492V Missense 13/16 - 2
3-143100952-C-T c.1474G>A p.G492S Missense 13/16 - 1
3-143100953-AAC-CAT c.1471_1473delinsATG p.V491M Missense 13/16 - 1
3-143101289-T-C c.1470-333A>G - IntronicSNV - 12/15 1
3-143101313-C-T c.1470-357G>A - IntronicSNV - 12/15 1
3-143109003-T-G c.1470-8047A>C - IntronicSNV - 12/15 1
3-143113550-G-A c.1470-12594C>T - IntronicSNV - 12/15 1
3-143127063-A-G c.1470-26107T>C - IntronicSNV - 12/15 1
3-143127063-A-T c.1470-26107T>A - IntronicSNV - 12/15 1
3-143128922-T-C c.1470-27966A>G - IntronicSNV - 12/15 1
3-143136819-T-G c.1470-35863A>C - IntronicSNV - 12/15 1
3-143138382-G-A c.1470-37426C>T - IntronicSNV - 12/15 1
3-143140428-A-G c.1470-39472T>C - IntronicSNV - 12/15 1
3-143140428-A-T c.1470-39472T>A - IntronicSNV - 12/15 1
3-143147071-CA-C c.1469+38807del - IntronicDeletion - 12/15 1
3-143152698-G-A c.1469+33181C>T - IntronicSNV - 12/15 1
3-143152784-T-A c.1469+33095A>T - IntronicSNV - 12/15 1
3-143154787-AACTAGGAGAAAT-A c.1469+31081_1469+31092del - IntronicDeletion - 12/15 1
3-143154799-C-G c.1469+31080G>C - IntronicSNV - 12/15 1
3-143163169-G-A c.1469+22710C>T - IntronicSNV - 12/15 2
3-143165502-T-C c.1469+20377A>G - IntronicSNV - 12/15 2
3-143167683-A-G c.1469+18196T>C - IntronicSNV - 12/15 1
3-143170476-AT-A c.1469+15403del - IntronicDeletion - 12/15 1
3-143170476-T-A c.1469+15403A>T - IntronicSNV - 12/15 1
3-143171545-G-A c.1469+14334C>T - IntronicSNV - 12/15 1
3-143173165-T-G c.1469+12714A>C - IntronicSNV - 12/15 1
3-143175709-C-T c.1469+10170G>A - IntronicSNV - 12/15 1
3-143177359-C-A c.1469+8520G>T - IntronicSNV - 12/15 1
3-143179881-T-C c.1469+5998A>G - IntronicSNV - 12/15 1
3-143185886-G-A c.1462C>T p.Q488* Nonsense 12/16 - 1
3-143185888-A-C c.1460T>G p.L487R Missense 12/16 - 1
3-143185896-C-T c.1452G>A p.L484= Synonymous 12/16 - 1
3-143185898-A-G c.1450T>C p.L484= Synonymous 12/16 - 1
3-143185903-G-C c.1445C>G p.P482R Missense 12/16 - 1
3-143185905-G-A c.1443C>T p.T481= Synonymous 12/16 - 2
3-143185905-G-C c.1443C>G p.T481= Synonymous 12/16 - 2
3-143185905-G-T c.1443C>A p.T481= Synonymous 12/16 - 3
3-143185910-T-C c.1438A>G p.T480A Missense 12/16 - 1
3-143185912-C-T c.1436G>A p.G479E Missense 12/16 - 4
3-143185913-C-T c.1435G>A p.G479R Missense 12/16 - 2
3-143185915-C-T c.1433G>A p.G478E Missense 12/16 - 2
3-143185918-C-T c.1430G>A p.G477E Missense 12/16 - 4
3-143185920-A-G c.1428T>C p.F476= Synonymous 12/16 - 2
3-143185922-A-G c.1426T>C p.F476L Missense 12/16 - 1
3-143185923-T-A c.1425A>T p.V475= Synonymous 12/16 - 1
3-143185923-T-G c.1425A>C p.V475= Synonymous 12/16 - 1
3-143185928-CA-C c.1420del p.W474Gfs*11 Frameshift 12/16 - 1
3-143185935-G-C c.1413C>G p.F471L Missense 12/16 - 1
3-143185935-G-T c.1413C>A p.F471L Missense 12/16 - 1
3-143185937-A-G c.1411T>C p.F471L Missense 12/16 - 1
3-143185938-G-C c.1410C>G p.F470L Missense 12/16 - 1
3-143185938-G-T c.1410C>A p.F470L Missense 12/16 - 1
3-143185940-A-G c.1408T>C p.F470L Missense 12/16 - 1
3-143185943-C-T c.1405G>A p.V469M Missense 12/16 - 2
3-143185944-G-A c.1404C>T p.L468= Synonymous 12/16 - 4
3-143185944-G-C c.1404C>G p.L468= Synonymous 12/16 - 1
3-143185944-G-T c.1404C>A p.L468= Synonymous 12/16 - 1
3-143185954-G-A c.1394C>T p.T465M Missense 12/16 - 4
3-143185955-T-C c.1393A>G p.T465A Missense 12/16 - 5
3-143185956-A-C c.1392T>G p.T464= Synonymous 12/16 - 1
3-143185956-A-G c.1392T>C p.T464= Synonymous 12/16 - 1
3-143185956-A-T c.1392T>A p.T464= Synonymous 12/16 - 1
3-143185962-A-C c.1386T>G p.F462L Missense 12/16 - 1
3-143185962-A-T c.1386T>A p.F462L Missense 12/16 - 1
3-143185964-A-G c.1384T>C p.F462L Missense 12/16 - 2
3-143185968-C-T c.1380G>A p.M460I Missense 12/16 - 2
3-143185970-T-C c.1378A>G p.M460V Missense 12/16 - 2
3-143185984-G-A c.1364C>T p.S455F Missense 12/16 - 1
3-143185984-G-T c.1364C>A p.S455Y Missense 12/16 - 1
3-143185985-A-C c.1363T>G p.S455A Missense 12/16 - 1
3-143185989-T-A c.1359A>T p.T453= Synonymous 12/16 - 1
3-143185989-T-C c.1359A>G p.T453= Synonymous 12/16 - 1
3-143185989-T-G c.1359A>C p.T453= Synonymous 12/16 - 1
3-143185991-T-G c.1357A>C p.T453P Missense 12/16 - 1
3-143185995-CCG-ACA c.1351_1353delinsTGT p.R451C Missense 12/16 - 1
3-143185995-C-T c.1353G>A p.R451= Synonymous 12/16 - 1
3-143185996-C-T c.1352G>A p.R451Q Missense 12/16 - 3
3-143185997-G-A c.1351C>T p.R451W Missense 12/16 - 7
3-143185997-G-C c.1351C>G p.R451G Missense 12/16 - 1
3-143186006-A-T c.1342T>A p.L448I Missense 12/16 - 5
3-143186008-G-C c.1340C>G p.A447G Missense 12/16 - 1
3-143186008-G-T c.1340C>A p.A447D Missense 12/16 - 1
3-143186009-C-A c.1339G>T p.A447S Missense 12/16 - 2
3-143186009-C-T c.1339G>A p.A447T Missense 12/16 - 2
3-143186010-AA-TT c.1337_1338inv p.F446* Nonsense 12/16 - 1
3-143186010-A-C c.1338T>G p.F446L Missense 12/16 - 1
3-143186010-A-T c.1338T>A p.F446L Missense 12/16 - 1
3-143186012-A-G c.1336T>C p.F446L Missense 12/16 - 1
3-143186013-T-A c.1335A>T p.A445= Synonymous 12/16 - 1
3-143186013-T-C c.1335A>G p.A445= Synonymous 12/16 - 1
3-143186013-T-G c.1335A>C p.A445= Synonymous 12/16 - 1
3-143186014-G-T c.1334C>A p.A445E Missense 12/16 - 1
3-143186015-C-T c.1333G>A p.A445T Missense 12/16 - 2
3-143186016-G-A c.1332C>T p.I444= Synonymous 12/16 - 3
3-143186016-G-T c.1332C>A p.I444= Synonymous 12/16 - 1
3-143186019-C-A c.1329G>T p.A443= Synonymous 12/16 - 1
3-143186019-C-G c.1329G>C p.A443= Synonymous 12/16 - 1
3-143186019-C-T c.1329G>A p.A443= Synonymous 12/16 - 1
3-143186025-TCG-CCA c.1321_1323delinsTGG p.R441W Missense 12/16 - 1
3-143186026-C-T c.1322G>A p.R441Q Missense 12/16 - 6
3-143186027-G-A c.1321C>T p.R441* Nonsense 12/16 - 1
3-143186032-C-A c.1316G>T p.G439V Missense 12/16 - 1
3-143186135-T-A c.1316-103A>T - IntronicSNV - 11/15 1
3-143189957-C-T c.1316-3925G>A - IntronicSNV - 11/15 1
3-143192433-C-T c.1316-6401G>A - IntronicSNV - 11/15 1
3-143192479-A-G c.1316-6447T>C - IntronicSNV - 11/15 1
3-143193111-T-C c.1316-7079A>G - IntronicSNV - 11/15 1
3-143195455-G-A c.1316-9423C>T - IntronicSNV - 11/15 1
3-143195475-C-G c.1316-9443G>C - IntronicSNV - 11/15 1
3-143195475-C-T c.1316-9443G>A - IntronicSNV - 11/15 1
3-143196190-C-T c.1316-10158G>A - IntronicSNV - 11/15 1
3-143197617-C-A c.1316-11585G>T - IntronicSNV - 11/15 1
3-143201602-T-C c.1315+10893A>G - IntronicSNV - 11/15 1
3-143208657-C-T c.1315+3838G>A - IntronicSNV - 11/15 1
3-143210189-T-C c.1315+2306A>G - IntronicSNV - 11/15 1
3-143211319-G-A c.1315+1176C>T - IntronicSNV - 11/15 1
3-143212496-T-C c.1314A>G p.S438= Synonymous 11/16 - 1
3-143212498-A-G c.1312T>C p.S438P Missense 11/16 - 8
3-143212500-A-C c.1310T>G p.F437C Missense 11/16 - 1
3-143212502-C-A c.1308G>T p.M436I Missense 11/16 - 1
3-143212502-C-T c.1308G>A p.M436I Missense 11/16 - 2
3-143212504-T-A c.1306A>T p.M436L Missense 11/16 - 1
3-143212505-C-T c.1305G>A p.M435I Missense 11/16 - 2
3-143212513-G-C c.1297C>G p.H433D Missense 11/16 - 1
3-143212523-C-T c.1287G>A p.W429* Nonsense 11/16 - 1
3-143212524-C-T c.1286G>A p.W429* Nonsense 11/16 - 1
3-143212530-A-C c.1280T>G p.I427S Missense 11/16 - 1
3-143212542-C-T c.1268G>A p.R423Q Missense 11/16 - 8
3-143212543-G-A c.1267C>T p.R423* Nonsense 11/16 - 6
3-143212547-T-A c.1263A>T p.L421= Synonymous 11/16 - 2
3-143212547-T-C c.1263A>G p.L421= Synonymous 11/16 - 1
3-143212547-T-G c.1263A>C p.L421= Synonymous 11/16 - 1
3-143212549-G-A c.1261C>T p.L421= Synonymous 11/16 - 1
3-143212550-A-G c.1260T>C p.N420= Synonymous 11/16 - 1
3-143212553-C-A c.1257G>T p.L419= Synonymous 11/16 - 1
3-143212553-C-G c.1257G>C p.L419= Synonymous 11/16 - 1
3-143212553-C-T c.1257G>A p.L419= Synonymous 11/16 - 1
3-143212555-G-A c.1255C>T p.L419= Synonymous 11/16 - 1
3-143212562-G-A c.1248C>T p.S416= Synonymous 11/16 - 1
3-143212563-G-A c.1247C>T p.S416F Missense 11/16 - 1
3-143212569-G-A c.1241C>T p.P414L Missense 11/16 - 1
3-143212576-AT-A c.1234del p.I412Yfs*8 Frameshift 11/16 - 1
3-143212580-G-A c.1230C>T p.C410= Synonymous 11/16 - 1
3-143212584-G-C c.1226C>G p.A409G Missense 11/16 - 2
3-143212585-C-G c.1225G>C p.A409P Missense 11/16 - 1
3-143212587-C-G c.1223G>C p.R408T Missense 11/16 - 1
3-143212591-C-A c.1219G>T p.A407S Missense 11/16 - 4
3-143212594-C-A c.1216G>T p.V406F Missense 11/16 - 1
3-143212594-C-CA c.1215dup p.V406Cfs*92 Frameshift 11/16 - 3
3-143212599-A-T c.1211T>A p.I404N Missense 11/16 - 1
3-143212606-G-T c.1204C>A p.L402I Missense 11/16 - 1
3-143213449-A-G c.1203+728T>C - IntronicSNV - 10/15 1
3-143214072-A-T c.1203+105T>A - IntronicSNV - 10/15 1
3-143214114-T-C c.1203+63A>G - IntronicSNV - 10/15 6
3-143214181-G-C c.1199C>G p.A400G Missense 10/16 - 6
3-143214181-G-T c.1199C>A p.A400D Missense 10/16 - 1
3-143214184-C-A c.1196G>T p.G399V Missense 10/16 - 1
3-143214184-C-G c.1196G>C p.G399A Missense 10/16 - 2
3-143214185-C-A c.1195G>T p.G399* Nonsense 10/16 - 1
3-143214191-T-C c.1189A>G p.I397V Missense 10/16 - 1
3-143214191-TA-T c.1188del p.F396Lfs*7 Frameshift 10/16 - 1
3-143214197-G-T c.1183C>A p.L395I Missense 10/16 - 2
3-143214201-A-C c.1179T>G p.N393K Missense 10/16 - 1
3-143214201-A-T c.1179T>A p.N393K Missense 10/16 - 1
3-143214207-G-A c.1173C>T p.I391= Synonymous 10/16 - 1
3-143214207-G-T c.1173C>A p.I391= Synonymous 10/16 - 1
3-143214209-T-C c.1171A>G p.I391V Missense 10/16 - 1
3-143214215-T-C c.1165A>G p.N389D Missense 10/16 - 1
3-143214218-G-T c.1162C>A p.Q388K Missense 10/16 - 5
3-143214222-C-A c.1158G>T p.T386= Synonymous 10/16 - 1
3-143214222-C-G c.1158G>C p.T386= Synonymous 10/16 - 1
3-143214222-C-T c.1158G>A p.T386= Synonymous 10/16 - 3
3-143214223-G-A c.1157C>T p.T386M Missense 10/16 - 2
3-143214224-GT-G c.1156del p.T386Rfs*17 Frameshift 10/16 - 1
3-143214224-T-TG c.1155dup p.T386Hfs*8 Frameshift 10/16 - 1
3-143214229-A-G c.1151T>C p.L384P Missense 10/16 - 1
3-143214233-C-A c.1147G>T p.A383S Missense 10/16 - 1
3-143214238-C-A c.1142G>T p.G381V Missense 10/16 - 6
3-143214240-C-A c.1140G>T p.M380I Missense 10/16 - 1
3-143214240-C-G c.1140G>C p.M380I Missense 10/16 - 1
3-143214240-C-T c.1140G>A p.M380I Missense 10/16 - 3
3-143214241-A-G c.1139T>C p.M380T Missense 10/16 - 1
3-143214244-T-G c.1136A>C p.Y379S Missense 10/16 - 1
3-143214249-G-C c.1131C>G p.F377L Missense 10/16 - 1
3-143214249-G-T c.1131C>A p.F377L Missense 10/16 - 1
3-143214251-A-G c.1129T>C p.F377L Missense 10/16 - 1
3-143214252-G-A c.1128C>T p.I376= Synonymous 10/16 - 1
3-143214256-A-T c.1124T>A p.V375D Missense 10/16 - 1
3-143214258-G-A c.1122C>T p.N374= Synonymous 10/16 - 2
3-143214261-C-A c.1119G>T p.E373D Missense 10/16 - 1
3-143214261-C-T c.1119G>A p.E373= Synonymous 10/16 - 3
3-143214264-C-A c.1116G>T p.A372= Synonymous 10/16 - 1
3-143214264-C-G c.1116G>C p.A372= Synonymous 10/16 - 1
3-143214264-C-T c.1116G>A p.A372= Synonymous 10/16 - 3
3-143214265-G-A c.1115C>T p.A372V Missense 10/16 - 5
3-143214267-C-A c.1113G>T p.L371F Missense 10/16 - 1
3-143214267-CA-C c.1112del p.L371Wfs*32 Frameshift 10/16 - 4
3-143214272-A-C c.1108T>G p.F370V Missense 10/16 - 2
3-143214275-T-G c.1105A>C p.N369H Missense 10/16 - 2
3-143214276-C-T c.1104G>A p.M368I Missense 10/16 - 2
3-143214280-A-C c.1100T>G p.F367C Missense 10/16 - 1
3-143214281-A-C c.1099T>G p.F367V Missense 10/16 - 1
3-143214284-C-T c.1096G>A p.E366K Missense 10/16 - 1
3-143214285-A-G c.1095T>C p.F365= Synonymous 10/16 - 1
3-143214286-A-G c.1094T>C p.F365S Missense 10/16 - 1
3-143214437-A-T c.1090-147T>A - IntronicSNV - 9/15 1
3-143214462-G-A c.1090-172C>T - IntronicSNV - 9/15 1
3-143222874-C-T c.1090-8584G>A - IntronicSNV - 9/15 1
3-143223044-T-G c.1090-8754A>C - IntronicSNV - 9/15 1
3-143223087-T-C c.1090-8797A>G - IntronicSNV - 9/15 1
3-143229569-T-C c.1090-15279A>G - IntronicSNV - 9/15 1
3-143236212-C-A c.1090-21922G>T - IntronicSNV - 9/15 1
3-143236295-C-T c.1090-22005G>A - IntronicSNV - 9/15 1
3-143236424-A-G c.1090-22134T>C - IntronicSNV - 9/15 1
3-143237653-G-T c.1090-23363C>A - IntronicSNV - 9/15 1
3-143241213-T-A c.1090-26923A>T - IntronicSNV - 9/15 1
3-143241213-T-G c.1090-26923A>C - IntronicSNV - 9/15 1
3-143242723-G-A c.1090-28433C>T - IntronicSNV - 9/15 1
3-143242723-G-T c.1090-28433C>A - IntronicSNV - 9/15 1
3-143242881-C-G c.1089+28323G>C - IntronicSNV - 9/15 1
3-143244105-C-G c.1089+27099G>C - IntronicSNV - 9/15 2
3-143244105-C-T c.1089+27099G>A - IntronicSNV - 9/15 2
3-143246569-C-A c.1089+24635G>T - IntronicSNV - 9/15 1
3-143250070-T-C c.1089+21134A>G - IntronicSNV - 9/15 3
3-143250256-C-T c.1089+20948G>A - IntronicSNV - 9/15 1
3-143251453-GA-G c.1089+19750del - IntronicDeletion - 9/15 1
3-143254269-C-G c.1089+16935G>C - IntronicSNV - 9/15 1
3-143257883-AT-A c.1089+13320del - IntronicDeletion - 9/15 1
3-143258456-C-G c.1089+12748G>C - IntronicSNV - 9/15 1
3-143259812-C-G c.1089+11392G>C - IntronicSNV - 9/15 1
3-143259822-C-T c.1089+11382G>A - IntronicSNV - 9/15 1
3-143261354-GA-G c.1089+9849del - IntronicDeletion - 9/15 1
3-143267616-G-GA c.1089+3587dup - IntronicInsertion - 9/15 1
3-143270684-T-G c.1089+520A>C - IntronicSNV - 9/15 1
3-143271176-C-G c.1089+28G>C - IntronicSNV - 9/15 3
3-143271204-C-A c.1089G>T p.Q363H Missense 9/16 - 1
3-143271205-T-C c.1088A>G p.Q363R Missense 9/16 - 1
3-143271208-T-C c.1085A>G p.K362R Missense 9/16 - 1
3-143271213-T-C c.1080A>G p.R360= Synonymous 9/16 - 1
3-143271215-T-G c.1078A>C p.R360= Synonymous 9/16 - 1
3-143271214-C-G c.1079G>C p.R360T Missense 9/16 - 1
3-143271214-C-T c.1079G>A p.R360K Missense 9/16 - 1
3-143271224-A-G c.1069T>C p.S357P Missense 9/16 - 1
3-143271227-C-A c.1066G>T p.D356Y Missense 9/16 - 1
3-143271229-G-A c.1064C>T p.S355L Missense 9/16 - 7
3-143271232-G-T c.1061C>A p.S354Y Missense 9/16 - 3
3-143271233-A-G c.1060T>C p.S354P Missense 9/16 - 1
3-143271239-T-C c.1054A>G p.N352D Missense 9/16 - 1
3-143271242-T-C c.1051A>G p.N351D Missense 9/16 - 1
3-143271247-G-T c.1046C>A p.T349N Missense 9/16 - 2
3-143271253-T-A c.1040A>T p.H347L Missense 9/16 - 1
3-143271257-C-T c.1036G>A p.A346T Missense 9/16 - 2
3-143271261-TG-CA c.1031_1032inv p.T344M Missense 9/16 - 1
3-143271264-G-T c.1029C>A p.V343= Synonymous 9/16 - 2
3-143271266-C-T c.1027G>A p.V343I Missense 9/16 - 1
3-143271267-T-A c.1026A>T p.G342= Synonymous 9/16 - 1
3-143271267-T-C c.1026A>G p.G342= Synonymous 9/16 - 1
3-143271267-T-G c.1026A>C p.G342= Synonymous 9/16 - 2
3-143271268-C-A c.1025G>T p.G342V Missense 9/16 - 5
3-143271268-C-T c.1025G>A p.G342E Missense 9/16 - 3
3-143271276-G-A c.1017C>T p.L339= Synonymous 9/16 - 1
3-143271276-G-T c.1017C>A p.L339= Synonymous 9/16 - 1
3-143271278-G-C c.1015C>G p.L339V Missense 9/16 - 1
3-143271281-C-A c.1012G>T p.V338F Missense 9/16 - 1
3-143271284-C-T c.1009G>A p.A337T Missense 9/16 - 2
3-143271287-C-G c.1006G>C p.V336L Missense 9/16 - 1
3-143271288-CT-C c.1005del p.I335Mfs*25 Frameshift 9/16 - 1
3-143271288-T-C c.1005A>G p.I335M Missense 9/16 - 1
3-143271291-C-T c.1002G>A p.G334= Synonymous 9/16 - 2
3-143271292-C-T c.1001G>A p.G334E Missense 9/16 - 1
3-143271365-A-C c.1001-73T>G - IntronicSNV - 8/15 1
3-143271396-T-C c.1001-104A>G - IntronicSNV - 8/15 1
3-143279720-T-G c.1001-8428A>C - IntronicSNV - 8/15 1
3-143285765-C-T c.1000+7165G>A - IntronicSNV - 8/15 1
3-143285818-G-A c.1000+7112C>T - IntronicSNV - 8/15 1
3-143289116-C-T c.1000+3814G>A - IntronicSNV - 8/15 1
3-143292928-A-C c.1000+2T>G - IntronicSNV - 8/15 1
3-143292928-A-G c.1000+2T>C - IntronicSNV - 8/15 1
3-143292931-T-A c.999A>T p.T333= Synonymous 8/16 - 1
3-143292931-T-C c.999A>G p.T333= Synonymous 8/16 - 1
3-143292931-T-G c.999A>C p.T333= Synonymous 8/16 - 1
3-143292933-T-G c.997A>C p.T333P Missense 8/16 - 1
3-143292936-G-A c.994C>T p.L332= Synonymous 8/16 - 1
3-143292936-G-C c.994C>G p.L332V Missense 8/16 - 1
3-143292936-G-T c.994C>A p.L332I Missense 8/16 - 2
3-143292939-C-A c.991G>T p.G331C Missense 8/16 - 2
3-143292939-C-T c.991G>A p.G331S Missense 8/16 - 2
3-143292940-G-A c.990C>T p.A330= Synonymous 8/16 - 1
3-143292940-G-T c.990C>A p.A330= Synonymous 8/16 - 2
3-143292945-C-A c.985G>T p.A329S Missense 8/16 - 1
3-143292947-T-G c.983A>C p.E328A Missense 8/16 - 3
3-143292948-C-A c.982G>T p.E328* Nonsense 8/16 - 1
3-143292949-G-A c.981C>T p.A327= Synonymous 8/16 - 1
3-143292949-G-C c.981C>G p.A327= Synonymous 8/16 - 2
3-143292949-G-T c.981C>A p.A327= Synonymous 8/16 - 1
3-143292953-G-A c.977C>T p.S326F Missense 8/16 - 1
3-143292953-G-C c.977C>G p.S326C Missense 8/16 - 2
3-143292958-G-A c.972C>T p.F324= Synonymous 8/16 - 1
3-143292961-G-A c.969C>T p.A323= Synonymous 8/16 - 1
3-143292964-A-G c.966T>C p.S322= Synonymous 8/16 - 2
3-143292967-C-A c.963G>T p.W321C Missense 8/16 - 1
3-143292967-C-G c.963G>C p.W321C Missense 8/16 - 1
3-143292967-C-T c.963G>A p.W321* Nonsense 8/16 - 1
3-143292968-C-T c.962G>A p.W321* Nonsense 8/16 - 1
3-143292971-G-T c.959C>A p.S320Y Missense 8/16 - 1
3-143292979-G-A c.951C>T p.F317= Synonymous 8/16 - 6
3-143292979-G-GA c.950dup p.L318Pfs*45 Frameshift 8/16 - 1
3-143292985-C-A c.945G>T p.L315= Synonymous 8/16 - 1
3-143292985-C-G c.945G>C p.L315= Synonymous 8/16 - 1
3-143292985-C-T c.945G>A p.L315= Synonymous 8/16 - 1
3-143292987-G-A c.943C>T p.L315= Synonymous 8/16 - 1
3-143292992-G-A c.938C>T p.T313I Missense 8/16 - 1
3-143292996-C-T c.934G>A p.E312K Missense 8/16 - 2
3-143293003-C-A c.927G>T p.P309= Synonymous 8/16 - 2
3-143293003-C-G c.927G>C p.P309= Synonymous 8/16 - 2
3-143293003-C-T c.927G>A p.P309= Synonymous 8/16 - 3
3-143293004-G-A c.926C>T p.P309L Missense 8/16 - 4
3-143293004-G-T c.926C>A p.P309Q Missense 8/16 - 1
3-143293006-G-A c.924C>T p.F308= Synonymous 8/16 - 1
3-143293007-A-G c.923T>C p.F308S Missense 8/16 - 1
3-143293010-T-C c.920A>G p.E307G Missense 8/16 - 1
3-143293011-C-T c.919G>A p.E307K Missense 8/16 - 1
3-143293012-A-C c.918T>G p.C306W Missense 8/16 - 1
3-143293012-A-G c.918T>C p.C306= Synonymous 8/16 - 20
3-143293029-T-C c.901A>G p.K301E Missense 8/16 - 1
3-143293032-GT-G c.898del p.T300Pfs*33 Frameshift 8/16 - 1
3-143293032-T-G c.898A>C p.T300P Missense 8/16 - 1
3-143295843-T-C c.894+1584A>G - IntronicSNV - 7/15 1
3-143296258-A-C c.894+1169T>G - IntronicSNV - 7/15 4
3-143296430-G-C c.894+997C>G - IntronicSNV - 7/15 1
3-143296430-G-T c.894+997C>A - IntronicSNV - 7/15 1
3-143297302-C-A c.894+125G>T - IntronicSNV - 7/15 1
3-143297302-C-G c.894+125G>C - IntronicSNV - 7/15 1
3-143297302-C-T c.894+125G>A - IntronicSNV - 7/15 1
3-143297431-G-T c.890C>A p.A297E Missense 7/16 - 1
3-143297435-T-A c.886A>T p.T296S Missense 7/16 - 1
3-143297439-G-C c.882C>G p.I294M Missense 7/16 - 1
3-143297441-T-G c.880A>C p.I294L Missense 7/16 - 1
3-143297443-G-C c.878C>G p.A293G Missense 7/16 - 1
3-143297444-C-T c.877G>A p.A293T Missense 7/16 - 1
3-143297448-C-T c.873G>A p.A291= Synonymous 7/16 - 1
3-143297447-ACG-A c.872_873del p.A291Vfs*16 Frameshift 7/16 - 1
3-143297449-G-A c.872C>T p.A291V Missense 7/16 - 3
3-143297452-G-T c.869C>A p.S290Y Missense 7/16 - 1
3-143297454-C-A c.867G>T p.G289= Synonymous 7/16 - 2
3-143297454-C-G c.867G>C p.G289= Synonymous 7/16 - 1
3-143297454-C-T c.867G>A p.G289= Synonymous 7/16 - 1
3-143297455-C-T c.866G>A p.G289E Missense 7/16 - 1
3-143297453-AC-A c.867del p.S290Lfs*10 Frameshift 7/16 - 1
3-143297460-T-A c.861A>T p.A287= Synonymous 7/16 - 2
3-143297460-T-C c.861A>G p.A287= Synonymous 7/16 - 1
3-143297460-T-G c.861A>C p.A287= Synonymous 7/16 - 3
3-143297461-G-T c.860C>A p.A287E Missense 7/16 - 4
3-143297470-C-T c.851G>A p.G284D Missense 7/16 - 1
3-143297482-C-T c.839G>A p.G280E Missense 7/16 - 1
3-143297487-G-A c.834C>T p.F278= Synonymous 7/16 - 4
3-143297490-A-G c.831T>C p.N277= Synonymous 7/16 - 1
3-143297491-T-A c.830A>T p.N277I Missense 7/16 - 1
3-143297492-T-C c.829A>G p.N277D Missense 7/16 - 1
3-143297492-T-TA c.828_829insT p.N277* Nonsense 7/16 - 1
3-143297493-C-A c.828G>T p.G276= Synonymous 7/16 - 2
3-143297492-TC-T c.828del p.N277Ifs*23 Frameshift 7/16 - 1
3-143297496-C-A c.825G>T p.V275= Synonymous 7/16 - 1
3-143297496-C-G c.825G>C p.V275= Synonymous 7/16 - 1
3-143297496-C-T c.825G>A p.V275= Synonymous 7/16 - 1
3-143297500-G-A c.821C>T p.S274F Missense 7/16 - 4
3-143297503-T-C c.818A>G p.Q273R Missense 7/16 - 1
3-143297504-G-T c.817C>A p.Q273K Missense 7/16 - 1
3-143297505-G-T c.816C>A p.F272L Missense 7/16 - 1
3-143297516-C-T c.805G>A p.A269T Missense 7/16 - 3
3-143297517-G-A c.804C>T p.A268= Synonymous 7/16 - 1
3-143297518-G-A c.803C>T p.A268V Missense 7/16 - 1
3-143297520-A-G c.801T>C p.D267= Synonymous 7/16 - 1
3-143297522-C-T c.799G>A p.D267N Missense 7/16 - 2
3-143297530-T-C c.791A>G p.N264S Missense 7/16 - 1
3-143297533-G-T c.788C>A p.P263Q Missense 7/16 - 1
3-143297534-G-A c.787C>T p.P263S Missense 7/16 - 4
3-143297539-T-C c.782A>G p.E261G Missense 7/16 - 1
3-143297539-T-G c.782A>C p.E261A Missense 7/16 - 1
3-143297540-C-T c.781G>A p.E261K Missense 7/16 - 3
3-143297543-T-G c.778A>C p.K260Q Missense 7/16 - 1
3-143297546-G-T c.775C>A p.P259T Missense 7/16 - 1
3-143297547-A-G c.774T>C p.S258= Synonymous 7/16 - 1
3-143297549-T-C c.772A>G p.S258G Missense 7/16 - 1
3-143297563-G-A c.758C>T p.S253F Missense 7/16 - 1
3-143297563-G-C c.758C>G p.S253C Missense 7/16 - 1
3-143297564-A-G c.757T>C p.S253P Missense 7/16 - 1
3-143297591-A-C c.756-26T>G - IntronicSNV - 6/15 3
3-143301064-C-T c.756-3499G>A - IntronicSNV - 6/15 1
3-143305613-A-G c.756-8048T>C - IntronicSNV - 6/15 1
3-143311260-A-G c.756-13695T>C - IntronicSNV - 6/15 2
3-143318875-T-A c.756-21310A>T - IntronicSNV - 6/15 1
3-143325278-C-A c.756-27713G>T - IntronicSNV - 6/15 1
3-143325280-A-C c.756-27715T>G - IntronicSNV - 6/15 1
3-143339448-C-A c.755+31649G>T - IntronicSNV - 6/15 1
3-143344146-CCAA-C c.755+26949_755+26951del - IntronicDeletion - 6/15 1
3-143345469-G-A c.755+25628C>T - IntronicSNV - 6/15 1
3-143348245-A-G c.755+22852T>C - IntronicSNV - 6/15 1
3-143354573-C-T c.755+16524G>A - IntronicSNV - 6/15 1
3-143354574-T-C c.755+16523A>G - IntronicSNV - 6/15 1
3-143354691-G-T c.755+16406C>A - IntronicSNV - 6/15 2
3-143359760-C-A c.755+11337G>T - IntronicSNV - 6/15 1
3-143360568-C-A c.755+10529G>T - IntronicSNV - 6/15 1
3-143366463-T-C c.755+4634A>G - IntronicSNV - 6/15 1
3-143366830-C-T c.755+4267G>A - IntronicSNV - 6/15 1
3-143368708-C-T c.755+2389G>A - IntronicSNV - 6/15 1
3-143370967-A-G c.755+130T>C - IntronicSNV - 6/15 3
3-143371088-G-C c.755+9C>G - IntronicSNV - 6/15 1
3-143371100-G-A c.752C>T p.T251I Missense 6/16 - 1
3-143371102-A-G c.750T>C p.L250= Synonymous 6/16 - 1
3-143371115-A-C c.737T>G p.V246G Missense 6/16 - 2
3-143371116-C-A c.736G>T p.V246L Missense 6/16 - 1
3-143371116-C-G c.736G>C p.V246L Missense 6/16 - 1
3-143371121-T-G c.731A>C p.D244A Missense 6/16 - 1
3-143371124-TT-GC c.727_728delinsGC p.N243A Missense 6/16 - 1
3-143371131-C-A c.721G>T p.V241L Missense 6/16 - 1
3-143371131-C-G c.721G>C p.V241L Missense 6/16 - 1
3-143371134-T-TA c.717_718insT p.S240* Nonsense 6/16 - 1
3-143371135-C-A c.717G>T p.E239D Missense 6/16 - 2
3-143371135-C-G c.717G>C p.E239D Missense 6/16 - 3
3-143371135-C-T c.717G>A p.E239= Synonymous 6/16 - 1
3-143371139-C-T c.713G>A p.G238E Missense 6/16 - 1
3-143371145-A-G c.707T>C p.L236S Missense 6/16 - 14
3-143371146-A-C c.706T>G p.L236V Missense 6/16 - 1
3-143371151-G-A c.701C>T p.T234I Missense 6/16 - 3
3-143371154-T-C c.698A>G p.Y233C Missense 6/16 - 2
3-143371155-A-G c.697T>C p.Y233H Missense 6/16 - 1
3-143371156-C-T c.696G>A p.L232= Synonymous 6/16 - 1
3-143371161-C-G c.691G>C p.D231H Missense 6/16 - 5
3-143371163-G-A c.689C>T p.P230L Missense 6/16 - 1
3-143371166-T-C c.686A>G p.D229G Missense 6/16 - 2
3-143371167-C-T c.685G>A p.D229N Missense 6/16 - 1
3-143371170-C-A c.682G>T p.V228F Missense 6/16 - 3
3-143371174-C-A c.678G>T p.L226= Synonymous 6/16 - 2
3-143371174-C-G c.678G>C p.L226= Synonymous 6/16 - 2
3-143371174-C-T c.678G>A p.L226= Synonymous 6/16 - 2
3-143371176-G-A c.676C>T p.L226= Synonymous 6/16 - 2
3-143371181-T-C c.671A>G p.H224R Missense 6/16 - 3
3-143371182-G-A c.670C>T p.H224Y Missense 6/16 - 2
3-143371181-TG-T c.670del p.H224Mfs*19 Frameshift 6/16 - 1
3-143371183-G-A c.669C>T p.F223= Synonymous 6/16 - 4
3-143371185-A-C c.667T>G p.F223V Missense 6/16 - 1
3-143371187-A-C c.665T>G p.I222S Missense 6/16 - 1
3-143371188-T-G c.664A>C p.I222L Missense 6/16 - 1
3-143371189-G-A c.663C>T p.A221= Synonymous 6/16 - 1
3-143371190-G-A c.662C>T p.A221V Missense 6/16 - 1
3-143371191-C-T c.661G>A p.A221T Missense 6/16 - 3
3-143371192-C-A c.660G>T p.L220= Synonymous 6/16 - 1
3-143371192-C-G c.660G>C p.L220= Synonymous 6/16 - 1
3-143371192-C-T c.660G>A p.L220= Synonymous 6/16 - 1
3-143371194-G-A c.658C>T p.L220= Synonymous 6/16 - 1
3-143371196-A-T c.656T>A p.V219E Missense 6/16 - 1
3-143371198-TG-CA c.653_654inv p.T218M Missense 6/16 - 1
3-143371201-C-A c.651G>T p.V217= Synonymous 6/16 - 2
3-143371201-C-G c.651G>C p.V217= Synonymous 6/16 - 2
3-143371201-C-T c.651G>A p.V217= Synonymous 6/16 - 5
3-143371202-A-G c.650T>C p.V217A Missense 6/16 - 1
3-143371447-T-A c.650-245A>T - IntronicSNV - 5/15 1
3-143371447-T-C c.650-245A>G - IntronicSNV - 5/15 1
3-143374439-G-A c.650-3237C>T - IntronicSNV - 5/15 1
3-143393385-T-G c.649+18649A>C - IntronicSNV - 5/15 1
3-143396767-C-T c.649+15267G>A - IntronicSNV - 5/15 1
3-143403507-C-T c.649+8527G>A - IntronicSNV - 5/15 1
3-143405656-G-C c.649+6378C>G - IntronicSNV - 5/15 1
3-143405663-G-A c.649+6371C>T - IntronicSNV - 5/15 2
3-143406168-C-T c.649+5866G>A - IntronicSNV - 5/15 1
3-143406583-TA-T c.649+5450del - IntronicDeletion - 5/15 1
3-143407097-T-A c.649+4937A>T - IntronicSNV - 5/15 1
3-143407096-AT-A c.649+4937del - IntronicDeletion - 5/15 1
3-143411126-G-A c.649+908C>T - IntronicSNV - 5/15 1
3-143412029-A-G c.649+5T>C - IntronicSNV - 5/15 1
3-143412037-G-A c.646C>T p.P216S Missense 5/16 - 1
3-143412037-G-T c.646C>A p.P216T Missense 5/16 - 1
3-143412040-C-A c.643G>T p.D215Y Missense 5/16 - 1
3-143412040-C-T c.643G>A p.D215N Missense 5/16 - 1
3-143412045-G-A c.638C>T p.A213V Missense 5/16 - 1
3-143412059-A-C c.624T>G p.G208= Synonymous 5/16 - 1
3-143412059-A-G c.624T>C p.G208= Synonymous 5/16 - 1
3-143412059-A-T c.624T>A p.G208= Synonymous 5/16 - 1
3-143412060-C-A c.623G>T p.G208V Missense 5/16 - 2
3-143412060-C-G c.623G>C p.G208A Missense 5/16 - 2
3-143412061-C-A c.622G>T p.G208C Missense 5/16 - 3
3-143412064-A-T c.619T>A p.F207I Missense 5/16 - 1
3-143412061-CA-C c.621del p.F207Lfs*4 Frameshift 5/16 - 1
3-143412061-C-CA c.621dup p.G208Wfs*18 Frameshift 5/16 - 1
3-143412072-C-A c.611G>T p.C204F Missense 5/16 - 1
3-143412080-GA-G c.602del p.F201Sfs*10 Frameshift 5/16 - 1
3-143412086-A-T c.597T>A p.F199L Missense 5/16 - 1
3-143412089-G-T c.594C>A p.D198E Missense 5/16 - 1
3-143412093-C-A c.590G>T p.G197V Missense 5/16 - 2
3-143412093-C-G c.590G>C p.G197A Missense 5/16 - 1
3-143412093-C-T c.590G>A p.G197E Missense 5/16 - 1
3-143412094-C-A c.589G>T p.G197* Nonsense 5/16 - 2
3-143412097-T-G c.586A>C p.N196H Missense 5/16 - 1
3-143412099-T-A c.584A>T p.K195I Missense 5/16 - 1
3-143412095-AT-A c.587del p.N196Mfs*15 Frameshift 5/16 - 3
3-143412100-T-A c.583A>T p.K195* Nonsense 5/16 - 1
3-143412106-G-A c.577C>T p.Q193* Nonsense 5/16 - 3
3-143412108-C-T c.575G>A p.G192D Missense 5/16 - 1
3-143412110-A-G c.573T>C p.A191= Synonymous 5/16 - 1
3-143412112-C-A c.571G>T p.A191S Missense 5/16 - 1
3-143412112-C-T c.571G>A p.A191T Missense 5/16 - 1
3-143412124-C-T c.559G>A p.A187T Missense 5/16 - 1
3-143412128-C-T c.555G>A p.V185= Synonymous 5/16 - 1
3-143412128-TC-T c.555del p.K186Rfs*3 Frameshift 5/16 - 1
3-143412129-A-G c.554T>C p.V185A Missense 5/16 - 3
3-143412132-A-G c.551T>C p.F184S Missense 5/16 - 1
3-143412140-C-A c.543G>T p.M181I Missense 5/16 - 1
3-143412140-C-G c.543G>C p.M181I Missense 5/16 - 2
3-143412140-C-T c.543G>A p.M181I Missense 5/16 - 1
3-143412142-T-C c.541A>G p.M181V Missense 5/16 - 1
3-143412144-A-G c.539T>C p.I180T Missense 5/16 - 1
3-143412146-T-C c.537A>G p.L179= Synonymous 5/16 - 1
3-143412148-A-G c.535T>C p.L179= Synonymous 5/16 - 1
3-143412150-C-G c.534-1G>C - IntronicSNV - 4/15 1
3-143412268-T-C c.534-119A>G - IntronicSNV - 4/15 3
3-143412268-T-G c.534-119A>C - IntronicSNV - 4/15 3
3-143412373-G-A c.534-224C>T - IntronicSNV - 4/15 1
3-143412489-T-C c.534-340A>G - IntronicSNV - 4/15 1
3-143412497-T-G c.534-348A>C - IntronicSNV - 4/15 1
3-143423542-A-T c.534-11393T>A - IntronicSNV - 4/15 1
3-143424787-C-T c.534-12638G>A - IntronicSNV - 4/15 2
3-143424822-C-T c.534-12673G>A - IntronicSNV - 4/15 2
3-143424849-G-C c.534-12700C>G - IntronicSNV - 4/15 1
3-143424996-C-T c.534-12847G>A - IntronicSNV - 4/15 1
3-143424998-T-A c.534-12849A>T - IntronicSNV - 4/15 1
3-143424998-T-G c.534-12849A>C - IntronicSNV - 4/15 1
3-143425978-G-A c.534-13829C>T - IntronicSNV - 4/15 3
3-143425978-G-C c.534-13829C>G - IntronicSNV - 4/15 3
3-143425978-G-T c.534-13829C>A - IntronicSNV - 4/15 3
3-143427340-C-G c.534-15191G>C - IntronicSNV - 4/15 1
3-143427549-G-C c.534-15400C>G - IntronicSNV - 4/15 1
3-143427951-C-T c.534-15802G>A - IntronicSNV - 4/15 1
3-143428318-C-A c.534-16169G>T - IntronicSNV - 4/15 1
3-143439093-A-T c.534-26944T>A - IntronicSNV - 4/15 1
3-143443105-C-G c.534-30956G>C - IntronicSNV - 4/15 1
3-143453242-C-T c.534-41093G>A - IntronicSNV - 4/15 1
3-143462079-G-A c.534-49930C>T - IntronicSNV - 4/15 1
3-143462083-G-A c.534-49934C>T - IntronicSNV - 4/15 1
3-143462134-C-T c.534-49985G>A - IntronicSNV - 4/15 1
3-143464202-G-T c.533+49641C>A - IntronicSNV - 4/15 1
3-143468614-A-T c.533+45229T>A - IntronicSNV - 4/15 1
3-143468615-G-T c.533+45228C>A - IntronicSNV - 4/15 1
3-143477672-T-C c.533+36171A>G - IntronicSNV - 4/15 2
3-143498642-T-G c.533+15201A>C - IntronicSNV - 4/15 1
3-143504497-AT-A c.533+9345del - IntronicDeletion - 4/15 1
3-143504700-T-C c.533+9143A>G - IntronicSNV - 4/15 1
3-143513733-TA-T c.533+109del - IntronicDeletion - 4/15 1
3-143513821-T-G c.533+22A>C - IntronicSNV - 4/15 1
3-143513833-T-C c.533+10A>G - IntronicSNV - 4/15 1
3-143513836-C-T c.533+7G>A - IntronicSNV - 4/15 1
3-143513844-C-A c.532G>T p.G178W Missense 4/16 - 1
3-143513844-C-T c.532G>A p.G178R Missense 4/16 - 2
3-143513845-T-C c.531A>G p.I177M Missense 4/16 - 1
3-143513850-C-T c.526G>A p.V176I Missense 4/16 - 7
3-143513851-G-A c.525C>T p.I175= Synonymous 4/16 - 6
3-143513854-G-A c.522C>T p.C174= Synonymous 4/16 - 1
3-143513858-G-A c.518C>T p.S173F Missense 4/16 - 1
3-143513859-A-G c.517T>C p.S173P Missense 4/16 - 1
3-143513860-G-A c.516C>T p.I172= Synonymous 4/16 - 2
3-143513860-G-T c.516C>A p.I172= Synonymous 4/16 - 2
3-143513862-T-C c.514A>G p.I172V Missense 4/16 - 1
3-143513864-G-A c.512C>T p.A171V Missense 4/16 - 1
3-143513864-G-T c.512C>A p.A171D Missense 4/16 - 2
3-143513866-AG-CA c.509_510delinsTG p.T170M Missense 4/16 - 1
3-143513867-G-A c.509C>T p.T170I Missense 4/16 - 1
3-143513868-T-C c.508A>G p.T170A Missense 4/16 - 1
3-143513870-C-A c.506G>T p.G169V Missense 4/16 - 1
3-143513874-A-C c.502T>G p.L168V Missense 4/16 - 1
3-143513875-G-C c.501C>G p.F167L Missense 4/16 - 1
3-143513875-G-T c.501C>A p.F167L Missense 4/16 - 1
3-143513877-A-G c.499T>C p.F167L Missense 4/16 - 1
3-143513878-GG-CT c.497_498delinsAG p.A166E Missense 4/16 - 1
3-143513884-C-A c.492G>T p.T164= Synonymous 4/16 - 2
3-143513884-C-G c.492G>C p.T164= Synonymous 4/16 - 1
3-143513884-C-T c.492G>A p.T164= Synonymous 4/16 - 1
3-143513885-G-A c.491C>T p.T164M Missense 4/16 - 1
3-143513886-T-C c.490A>G p.T164A Missense 4/16 - 1
3-143513887-T-G c.489A>C p.L163F Missense 4/16 - 1
3-143513894-G-A c.482C>T p.S161F Missense 4/16 - 4
3-143513895-A-T c.481T>A p.S161T Missense 4/16 - 1
3-143513897-C-T c.479G>A p.G160E Missense 4/16 - 2
3-143513906-T-A c.470A>T p.Q157L Missense 4/16 - 1
3-143513907-G-A c.469C>T p.Q157* Nonsense 4/16 - 4
3-143513907-GA-G c.468del p.Q157Kfs*3 Frameshift 4/16 - 1
3-143513907-G-GA c.468dup p.Q157Sfs*47 Frameshift 4/16 - 1
3-143513975-A-G c.457-56T>C - IntronicSNV - 3/15 5
3-143515674-T-A c.450A>T p.L150= Synonymous 3/16 - 1
3-143515674-T-C c.450A>G p.L150= Synonymous 3/16 - 1
3-143515674-T-G c.450A>C p.L150= Synonymous 3/16 - 1
3-143515676-G-A c.448C>T p.L150= Synonymous 3/16 - 1
3-143515684-C-A c.440G>T p.G147V Missense 3/16 - 1
3-143515691-G-A c.433C>T p.H145Y Missense 3/16 - 1
3-143515691-G-C c.433C>G p.H145D Missense 3/16 - 1
3-143515696-A-T c.428T>A p.I143K Missense 3/16 - 4
3-143515699-A-C c.425T>G p.I142S Missense 3/16 - 2
3-143515699-A-G c.425T>C p.I142T Missense 3/16 - 1
3-143515702-G-A c.422C>T p.P141L Missense 3/16 - 4
3-143515702-G-T c.422C>A p.P141Q Missense 3/16 - 1
3-143515705-G-A c.419C>T p.P140L Missense 3/16 - 1
3-143515706-G-A c.418C>T p.P140S Missense 3/16 - 1
3-143515713-A-C c.411T>G p.V137= Synonymous 3/16 - 1
3-143515713-A-G c.411T>C p.V137= Synonymous 3/16 - 1
3-143515713-A-T c.411T>A p.V137= Synonymous 3/16 - 1
3-143515722-G-T c.402C>A p.F134L Missense 3/16 - 2
3-143515723-A-C c.401T>G p.F134C Missense 3/16 - 1
3-143515722-G-C c.402C>G p.F134L Missense 3/16 - 1
3-143515724-A-G c.400T>C p.F134L Missense 3/16 - 1
3-143515725-G-A c.399C>T p.I133= Synonymous 3/16 - 1
3-143515725-G-T c.399C>A p.I133= Synonymous 3/16 - 1
3-143515726-A-C c.398T>G p.I133S Missense 3/16 - 1
3-143515730-C-T c.394G>A p.E132K Missense 3/16 - 2
3-143515733-G-GA c.390dup p.P131Sfs*19 Frameshift 3/16 - 1
3-143515734-GA-G c.390del p.P131Qfs*20 Frameshift 3/16 - 1
3-143515741-G-A c.383C>T p.T128I Missense 3/16 - 8
3-143515742-T-C c.382A>G p.T128A Missense 3/16 - 1
3-143515743-C-T c.381G>A p.M127I Missense 3/16 - 1
3-143515899-A-T c.379-154T>A - IntronicSNV - 2/15 3
3-143519619-G-A c.379-3874C>T - IntronicSNV - 2/15 1
3-143520088-C-T c.379-4343G>A - IntronicSNV - 2/15 1
3-143523902-A-C c.379-8157T>G - IntronicSNV - 2/15 1
3-143530497-A-G c.379-14752T>C - IntronicSNV - 2/15 1
3-143530576-C-T c.379-14831G>A - IntronicSNV - 2/15 1
3-143537107-T-G c.378+13754A>C - IntronicSNV - 2/15 1
3-143537924-CA-C c.378+12936del - IntronicDeletion - 2/15 1
3-143539353-C-G c.378+11508G>C - IntronicSNV - 2/15 1
3-143541943-G-C c.378+8918C>G - IntronicSNV - 2/15 1
3-143545596-T-A c.378+5265A>T - IntronicSNV - 2/15 1
3-143545596-T-C c.378+5265A>G - IntronicSNV - 2/15 1
3-143545596-T-G c.378+5265A>C - IntronicSNV - 2/15 1
3-143545762-G-A c.378+5099C>T - IntronicSNV - 2/15 1
3-143545762-G-C c.378+5099C>G - IntronicSNV - 2/15 1
3-143549956-GA-G c.378+904del - IntronicDeletion - 2/15 1
3-143550855-C-A c.378+6G>T - IntronicSNV - 2/15 1
3-143550857-T-A c.378+4A>T - IntronicSNV - 2/15 1
3-143550866-C-T c.373G>A p.E125K Missense 2/16 - 1
3-143550871-A-G c.368T>C p.I123T Missense 2/16 - 1
3-143550871-A-T c.368T>A p.I123K Missense 2/16 - 1
3-143550872-T-A c.367A>T p.I123L Missense 2/16 - 1
3-143550873-A-T c.366T>A p.A122= Synonymous 2/16 - 1
3-143550879-T-A c.360A>T p.G120= Synonymous 2/16 - 1
3-143550880-C-T c.359G>A p.G120E Missense 2/16 - 4
3-143550889-G-A c.350C>T p.P117L Missense 2/16 - 2
3-143550890-G-A c.349C>T p.P117S Missense 2/16 - 3
3-143550890-G-T c.349C>A p.P117T Missense 2/16 - 3
3-143550892-T-C c.347A>G p.N116S Missense 2/16 - 1
3-143550894-G-C c.345C>G p.I115M Missense 2/16 - 2
3-143550897-G-A c.342C>T p.N114= Synonymous 2/16 - 1
3-143550907-C-CT c.331dup p.S111Kfs*15 Frameshift 2/16 - 1
3-143550910-A-AT c.328dup p.I110Nfs*16 Frameshift 2/16 - 1
3-143550914-C-T c.325G>A p.E109K Missense 2/16 - 2
3-143550916-C-T c.323G>A p.R108K Missense 2/16 - 4
3-143550916-CT-TG c.322_323delinsCA p.R108Q Missense 2/16 - 1
3-143550920-T-G c.319A>C p.K107Q Missense 2/16 - 1
3-143550922-T-C c.317A>G p.Y106C Missense 2/16 - 2
3-143550924-T-A c.315A>T p.K105N Missense 2/16 - 3
3-143550924-T-G c.315A>C p.K105N Missense 2/16 - 1
3-143550932-C-A c.307G>T p.E103* Nonsense 2/16 - 4
3-143550932-C-T c.307G>A p.E103K Missense 2/16 - 1
3-143550940-TG-T c.298del p.Q100Kfs*11 Frameshift 2/16 - 1
3-143550942-G-C c.297C>G p.D99E Missense 2/16 - 1
3-143550944-C-T c.295G>A p.D99N Missense 2/16 - 1
3-143550946-G-A c.293C>T p.T98I Missense 2/16 - 1
3-143550946-GT-CC c.292_293delinsGG p.T98G Missense 2/16 - 1
3-143550948-G-A c.291C>T p.I97= Synonymous 2/16 - 2
3-143550950-T-C c.289A>G p.I97V Missense 2/16 - 1
3-143550953-T-A c.286A>T p.N96Y Missense 2/16 - 5
3-143550953-T-G c.286A>C p.N96H Missense 2/16 - 1
3-143550956-C-T c.283G>A p.V95I Missense 2/16 - 1
3-143550967-G-A c.272C>T p.S91L Missense 2/16 - 2
3-143550968-A-G c.271T>C p.S91P Missense 2/16 - 1
3-143550971-G-A c.268C>T p.P90S Missense 2/16 - 5
3-143550971-G-T c.268C>A p.P90T Missense 2/16 - 1
3-143550973-C-T c.266G>A p.S89N Missense 2/16 - 1
3-143550975-G-A c.264C>T p.F88= Synonymous 2/16 - 1
3-143550976-A-G c.263T>C p.F88S Missense 2/16 - 1
3-143550975-G-C c.264C>G p.F88L Missense 2/16 - 5
3-143550975-G-T c.264C>A p.F88L Missense 2/16 - 3
3-143550977-A-G c.262T>C p.F88L Missense 2/16 - 3
3-143550986-T-G c.253A>C p.K85Q Missense 2/16 - 1
3-143550983-GT-G c.255del p.K85Nfs*2 Frameshift 2/16 - 1
3-143550988-A-T c.251T>A p.V84E Missense 2/16 - 1
3-143550991-C-T c.248G>A p.C83Y Missense 2/16 - 1
3-143550992-A-C c.247T>G p.C83G Missense 2/16 - 2
3-143550993-G-C c.246C>G p.D82E Missense 2/16 - 1
3-143550993-G-T c.246C>A p.D82E Missense 2/16 - 1
3-143550999-G-A c.240C>T p.V80= Synonymous 2/16 - 1
3-143550999-G-C c.240C>G p.V80= Synonymous 2/16 - 1
3-143550999-G-T c.240C>A p.V80= Synonymous 2/16 - 1
3-143551000-A-C c.239T>G p.V80G Missense 2/16 - 1
3-143551001-C-T c.238G>A p.V80I Missense 2/16 - 2
3-143551002-A-C c.237T>G p.T79= Synonymous 2/16 - 2
3-143551002-A-G c.237T>C p.T79= Synonymous 2/16 - 1
3-143551002-A-T c.237T>A p.T79= Synonymous 2/16 - 1
3-143551009-C-T c.230G>A p.S77N Missense 2/16 - 2
3-143551014-A-C c.225T>G p.I75M Missense 2/16 - 1
3-143551013-CA-C c.225del p.I75Mfs*10 Frameshift 2/16 - 1
3-143551026-TGC-AAA c.211_213delinsTTT p.A71F Missense 2/16 - 1
3-143551029-T-C c.210A>G p.T70= Synonymous 2/16 - 1
3-143551032-A-G c.207T>C p.A69= Synonymous 2/16 - 2
3-143551034-C-T c.205G>A p.A69T Missense 2/16 - 1
3-143551039-C-G c.200G>C p.R67P Missense 2/16 - 2
3-143551039-C-T c.200G>A p.R67Q Missense 2/16 - 5
3-143551047-T-TAGATC c.191_192insGATCT p.L66* Nonsense 2/16 - 1
3-143551050-T-A c.189A>T p.G63= Synonymous 2/16 - 1
3-143551050-T-C c.189A>G p.G63= Synonymous 2/16 - 1
3-143551050-T-G c.189A>C p.G63= Synonymous 2/16 - 1
3-143551051-C-G c.188G>C p.G63A Missense 2/16 - 2
3-143551051-C-T c.188G>A p.G63E Missense 2/16 - 1
3-143551052-C-G c.187G>C p.G63R Missense 2/16 - 3
3-143551052-C-T c.187G>A p.G63R Missense 2/16 - 4
3-143551053-C-A c.186G>T p.M62I Missense 2/16 - 3
3-143551053-C-G c.186G>C p.M62I Missense 2/16 - 2
3-143551053-C-T c.186G>A p.M62I Missense 2/16 - 2
3-143551061-G-A c.178C>T p.L60F Missense 2/16 - 1
3-143551063-C-G c.176G>C p.G59A Missense 2/16 - 1
3-143555781-G-T c.176-4718C>A - IntronicSNV - 1/15 1
3-143565358-AT-A c.175+1631del - IntronicDeletion - 1/15 1
3-143566985-C-T c.175+5G>A - IntronicSNV - 1/15 1
3-143566997-C-T c.168G>A p.M56I Missense 1/16 - 1
3-143567001-G-T c.164C>A p.A55E Missense 1/16 - 2
3-143567002-C-T c.163G>A p.A55T Missense 1/16 - 2
3-143567005-C-T c.160G>A p.G54R Missense 1/16 - 1
3-143567007-C-T c.158G>A p.G53E Missense 1/16 - 3
3-143567008-C-G c.157G>C p.G53R Missense 1/16 - 2
3-143567008-C-T c.157G>A p.G53R Missense 1/16 - 3
3-143567017-G-T c.148C>A p.H50N Missense 1/16 - 1
3-143567019-A-G c.146T>C p.L49S Missense 1/16 - 1
3-143567020-A-T c.145T>A p.L49M Missense 1/16 - 2
3-143567021-G-A c.144C>T p.F48= Synonymous 1/16 - 1
3-143567024-G-A c.141C>T p.R47= Synonymous 1/16 - 1
3-143567026-G-A c.139C>T p.R47C Missense 1/16 - 1
3-143567027-GA-G c.137del p.F46Sfs*16 Frameshift 1/16 - 1
3-143567031-C-A c.134G>T p.R45L Missense 1/16 - 2
3-143567032-G-A c.133C>T p.R45* Nonsense 1/16 - 5
3-143567032-G-C c.133C>G p.R45G Missense 1/16 - 4
3-143567035-G-T c.130C>A p.H44N Missense 1/16 - 2
3-143567036-A-C c.129T>G p.N43K Missense 1/16 - 1
3-143567036-A-T c.129T>A p.N43K Missense 1/16 - 3
3-143567037-T-G c.128A>C p.N43T Missense 1/16 - 1
3-143567043-A-G c.122T>C p.F41S Missense 1/16 - 1
3-143567046-AA-GG c.118_119delinsCC p.L40P Missense 1/16 - 1
3-143567048-C-T c.117G>A p.W39* Nonsense 1/16 - 1
3-143567049-C-T c.116G>A p.W39* Nonsense 1/16 - 1
3-143567058-AA-GC c.106_107delinsGC p.L36A Missense 1/16 - 1
3-143567061-A-C c.104T>G p.I35S Missense 1/16 - 1
3-143567061-A-AT c.103dup p.I35Nfs*8 Frameshift 1/16 - 1
3-143567063-G-A c.102C>T p.T34= Synonymous 1/16 - 1
3-143567063-G-C c.102C>G p.T34= Synonymous 1/16 - 1
3-143567063-G-T c.102C>A p.T34= Synonymous 1/16 - 1
3-143567068-G-A c.97C>T p.L33F Missense 1/16 - 2
3-143567069-GA-CT c.95_96delinsAG p.I32K Missense 1/16 - 1
3-143567080-A-C c.85T>G p.F29V Missense 1/16 - 3
3-143567075-CA-C c.89del p.L30Cfs*7 Frameshift 1/16 - 2
3-143567075-C-CA c.89dup p.L30Ffs*13 Frameshift 1/16 - 1
3-143567089-C-T c.76G>A p.V26I Missense 1/16 - 1
3-143567093-C-A c.72G>T p.L24= Synonymous 1/16 - 1
3-143567097-T-G c.68A>C p.E23A Missense 1/16 - 1
3-143567099-C-A c.66G>T p.V22= Synonymous 1/16 - 1
3-143567099-C-G c.66G>C p.V22= Synonymous 1/16 - 1
3-143567099-C-T c.66G>A p.V22= Synonymous 1/16 - 1
3-143567100-A-G c.65T>C p.V22A Missense 1/16 - 1
3-143567102-C-A c.63G>T p.A21= Synonymous 1/16 - 1
3-143567102-C-G c.63G>C p.A21= Synonymous 1/16 - 2
3-143567102-C-T c.63G>A p.A21= Synonymous 1/16 - 1
3-143567103-G-A c.62C>T p.A21V Missense 1/16 - 2
3-143567104-C-G c.61G>C p.A21P Missense 1/16 - 1
3-143567105-TCC-ACA c.58_60delinsTGT p.G20C Missense 1/16 - 1
3-143567106-C-A c.59G>T p.G20V Missense 1/16 - 1
3-143567106-C-T c.59G>A p.G20E Missense 1/16 - 2
3-143567107-C-T c.58G>A p.G20R Missense 1/16 - 1
3-143567109-T-C c.56A>G p.Q19R Missense 1/16 - 1
3-143567110-G-A c.55C>T p.Q19* Nonsense 1/16 - 4
3-143567110-G-T c.55C>A p.Q19K Missense 1/16 - 1
3-143567116-G-A c.49C>T p.Q17* Nonsense 1/16 - 1
3-143567124-T-C c.41A>G p.Y14C Missense 1/16 - 1
3-143567132-CT-C c.32del p.K11Rfs*26 Frameshift 1/16 - 1
3-143567136-T-G c.29A>C p.E10A Missense 1/16 - 1
3-143567137-C-T c.28G>A p.E10K Missense 1/16 - 1
3-143567146-C-T c.19G>A p.V7I Missense 1/16 - 1
3-143567148-C-G c.17G>C p.R6T Missense 1/16 - 2
3-143567149-T-A c.16A>T p.R6W Missense 1/16 - 1
3-143567153-C-T c.12G>A p.Q4= Synonymous 1/16 - 1
3-143567155-GTC-G c.8_9del p.R3Tfs*10 Frameshift 1/16 - 1
3-143567161-C-T c.4G>A p.E2K Missense 1/16 - 1
3-143567162-C-T c.3G>A p.M1? Missense 1/16 - 1
3-143567163-A-C c.2T>G p.M1? Missense 1/16 - 1
3-143567207-A-G c.-43T>C - 5-UTRSNV 1/16 - 12
3-143567207-A-T c.-43T>A - 5-UTRSNV 1/16 - 12