TRAP1

TRAP1 TNF receptor associated protein 1

Annotation transcript: NM_016292.3

915 unique variant annotations were identified in 506 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
16-3708130-T-G c.2115A>C p.*705Cext*8 Missense 18/18 - 3
16-3708137-C-A c.2108G>T p.R703L Missense 18/18 - 2
16-3708137-C-T c.2108G>A p.R703Q Missense 18/18 - 3
16-3708138-G-A c.2107C>T p.R703* Nonsense 18/18 - 2
16-3708139-C-T c.2106G>A p.E702= Synonymous 18/18 - 1
16-3708142-CA-AT c.2102_2103delinsAT p.L701H Missense 18/18 - 1
16-3708143-A-G c.2102T>C p.L701P Missense 18/18 - 1
16-3708148-C-A c.2097G>T p.K699N Missense 18/18 - 1
16-3708148-C-G c.2097G>C p.K699N Missense 18/18 - 1
16-3708159-G-C c.2086C>G p.L696V Missense 18/18 - 1
16-3708161-T-C c.2084A>G p.E695G Missense 18/18 - 1
16-3708170-C-A c.2075G>T p.R692L Missense 18/18 - 3
16-3708170-C-G c.2075G>C p.R692P Missense 18/18 - 3
16-3708170-C-T c.2075G>A p.R692H Missense 18/18 - 15
16-3708171-G-A c.2074C>T p.R692C Missense 18/18 - 1
16-3708173-C-G c.2072G>C p.G691A Missense 18/18 - 1
16-3708182-G-C c.2063C>G p.A688G Missense 18/18 - 1
16-3708185-C-T c.2060G>A p.R687K Missense 18/18 - 1
16-3708188-G-A c.2057C>T p.P686L Missense 18/18 - 1
16-3708189-G-C c.2056C>G p.P686A Missense 18/18 - 1
16-3708190-G-A c.2055C>T p.D685= Synonymous 18/18 - 1
16-3708192-C-G c.2053G>C p.D685H Missense 18/18 - 1
16-3708192-C-T c.2053G>A p.D685N Missense 18/18 - 12
16-3708193-G-A c.2052C>T p.D684= Synonymous 18/18 - 7
16-3708193-G-T c.2052C>A p.D684E Missense 18/18 - 3
16-3708194-TC-CA c.2050_2051delinsTG p.D684C Missense 18/18 - 1
16-3708205-A-G c.2040T>C p.A680= Synonymous 18/18 - 1
16-3708210-C-T c.2035G>A p.A679T Missense 18/18 - 1
16-3708220-G-C c.2025C>G p.N675K Missense 18/18 - 1
16-3708226-G-A c.2019C>T p.Y673= Synonymous 18/18 - 1
16-3708316-C-G c.2014-85G>C - IntronicSNV - 17/17 2
16-3708325-G-C c.2014-94C>G - IntronicSNV - 17/17 1
16-3708345-G-A c.2014-114C>T - IntronicSNV - 17/17 1
16-3708345-G-C c.2014-114C>G - IntronicSNV - 17/17 1
16-3708567-G-A c.2013+227C>T - IntronicSNV - 17/17 2
16-3708692-A-AAAC c.2013+101_2013+102insGTT - IntronicInsertion - 17/17 1
16-3708694-A-AC c.2013+99_2013+100insG - IntronicInsertion - 17/17 1
16-3708793-C-A c.2013+1G>T - IntronicSNV - 17/17 1
16-3708794-C-A c.2013G>T p.Q671H Missense 17/18 - 1
16-3708794-C-G c.2013G>C p.Q671H Missense 17/18 - 1
16-3708799-CCACCAGCAGCTGAGCCAGGCCAGGCTCGCTTGCGCGCAGCTGATT-C c.1963_2007del p.N655_V669del InFrameDeletion 17/18 - 1
16-3708811-G-A c.1996C>T p.Q666* Nonsense 17/18 - 1
16-3708814-C-T c.1993G>A p.A665T Missense 17/18 - 1
16-3708826-C-T c.1981G>A p.E661K Missense 17/18 - 1
16-3708832-C-T c.1975G>A p.A659T Missense 17/18 - 3
16-3708834-C-A c.1973G>T p.R658L Missense 17/18 - 1
16-3708834-C-T c.1973G>A p.R658H Missense 17/18 - 1
16-3708835-G-A c.1972C>T p.R658C Missense 17/18 - 4
16-3708845-C-A c.1962G>T p.L654= Synonymous 17/18 - 1
16-3708845-C-G c.1962G>C p.L654= Synonymous 17/18 - 1
16-3708845-C-T c.1962G>A p.L654= Synonymous 17/18 - 2
16-3708847-G-A c.1960C>T p.L654= Synonymous 17/18 - 1
16-3708847-G-C c.1960C>G p.L654V Missense 17/18 - 1
16-3708854-G-A c.1953C>T p.I651= Synonymous 17/18 - 3
16-3708854-G-T c.1953C>A p.I651= Synonymous 17/18 - 1
16-3708860-C-T c.1947G>A p.A649= Synonymous 17/18 - 1
16-3708861-G-A c.1946C>T p.A649V Missense 17/18 - 4
16-3708861-G-C c.1946C>G p.A649G Missense 17/18 - 1
16-3708861-G-T c.1946C>A p.A649E Missense 17/18 - 1
16-3708863-G-A c.1944C>T p.H648= Synonymous 17/18 - 2
16-3710537-C-G c.1940+1451G>C - IntronicSNV - 16/17 1
16-3711656-G-A c.1940+332C>T - IntronicSNV - 16/17 1
16-3711986-A-G c.1940+2T>C - IntronicSNV - 16/17 1
16-3711999-C-A c.1929G>T p.E643D Missense 16/18 - 1
16-3711999-C-G c.1929G>C p.E643D Missense 16/18 - 1
16-3712000-T-C c.1928A>G p.E643G Missense 16/18 - 1
16-3712001-C-T c.1927G>A p.E643K Missense 16/18 - 4
16-3712005-CGT-ACA c.1921_1923delinsTGT p.T641C Missense 16/18 - 1
16-3712006-G-A c.1922C>T p.T641M Missense 16/18 - 2
16-3712011-C-T c.1917G>A p.Q639= Synonymous 16/18 - 1
16-3712016-G-T c.1912C>A p.L638M Missense 16/18 - 2
16-3712024-G-A c.1904C>T p.A635V Missense 16/18 - 1
16-3712025-C-T c.1903G>A p.A635T Missense 16/18 - 2
16-3712027-C-T c.1901G>A p.R634H Missense 16/18 - 2
16-3712031-C-T c.1897G>A p.E633K Missense 16/18 - 2
16-3712045-G-A c.1883C>T p.A628V Missense 16/18 - 1
16-3712046-C-T c.1882G>A p.A628T Missense 16/18 - 1
16-3712050-C-A c.1878G>T p.Q626H Missense 16/18 - 1
16-3712055-G-A c.1873C>T p.Q625* Nonsense 16/18 - 1
16-3712058-T-C c.1870A>G p.M624V Missense 16/18 - 1
16-3712061-G-A c.1867C>T p.R623C Missense 16/18 - 1
16-3712070-G-C c.1858C>G p.H620D Missense 16/18 - 1
16-3712072-C-T c.1856G>A p.R619H Missense 16/18 - 1
16-3712073-G-A c.1855C>T p.R619C Missense 16/18 - 3
16-3712087-T-G c.1841A>C p.E614A Missense 16/18 - 1
16-3712089-C-A c.1839G>T p.L613= Synonymous 16/18 - 2
16-3712089-C-G c.1839G>C p.L613= Synonymous 16/18 - 2
16-3712089-C-T c.1839G>A p.L613= Synonymous 16/18 - 2
16-3712091-G-A c.1837C>T p.L613= Synonymous 16/18 - 2
16-3712094-C-T c.1834G>A p.V612M Missense 16/18 - 2
16-3712095-G-A c.1833C>T p.T611= Synonymous 16/18 - 1
16-3712095-G-C c.1833C>G p.T611= Synonymous 16/18 - 1
16-3712095-G-T c.1833C>A p.T611= Synonymous 16/18 - 1
16-3712096-GT-CA c.1831_1832delinsTG p.T611C Missense 16/18 - 1
16-3712104-G-T c.1824C>A p.A608= Synonymous 16/18 - 1
16-3712106-C-A c.1822G>T p.A608S Missense 16/18 - 2
16-3712108-G-T c.1820C>A p.P607H Missense 16/18 - 1
16-3712113-G-A c.1815C>T p.T605= Synonymous 16/18 - 2
16-3712113-G-C c.1815C>G p.T605= Synonymous 16/18 - 2
16-3712113-G-T c.1815C>A p.T605= Synonymous 16/18 - 2
16-3712116-G-A c.1812C>T p.D604= Synonymous 16/18 - 2
16-3712123-C-T c.1805G>A p.R602Q Missense 16/18 - 3
16-3712124-G-A c.1804C>T p.R602* Nonsense 16/18 - 4
16-3712130-T-G c.1798A>C p.T600P Missense 16/18 - 3
16-3712858-T-C c.1794+25A>G - IntronicSNV - 15/17 1
16-3712880-C-A c.1794+3G>T - IntronicSNV - 15/17 1
16-3712888-C-A c.1789G>T p.V597L Missense 15/18 - 1
16-3712888-C-G c.1789G>C p.V597L Missense 15/18 - 1
16-3712892-G-A c.1785C>T p.T595= Synonymous 15/18 - 1
16-3712894-T-C c.1783A>G p.T595A Missense 15/18 - 1
16-3712898-ACG-CCA c.1777_1779delinsTGG p.R593W Missense 15/18 - 1
16-3712899-C-T c.1778G>A p.R593H Missense 15/18 - 1
16-3712900-G-A c.1777C>T p.R593C Missense 15/18 - 1
16-3712905-C-G c.1772G>C p.G591A Missense 15/18 - 1
16-3712914-T-G c.1763A>C p.N588T Missense 15/18 - 1
16-3712916-TCT-ATG c.1759_1761delinsCAT p.R587H Missense 15/18 - 1
16-3712917-C-T c.1760G>A p.R587K Missense 15/18 - 1
16-3712925-G-A c.1752C>T p.A584= Synonymous 15/18 - 1
16-3712925-G-C c.1752C>G p.A584= Synonymous 15/18 - 1
16-3712925-G-T c.1752C>A p.A584= Synonymous 15/18 - 1
16-3712930-T-C c.1747A>G p.M583V Missense 15/18 - 2
16-3712931-G-A c.1746C>T p.L582= Synonymous 15/18 - 2
16-3712931-G-C c.1746C>G p.L582= Synonymous 15/18 - 2
16-3712931-G-T c.1746C>A p.L582= Synonymous 15/18 - 2
16-3712941-G-A c.1736C>T p.T579M Missense 15/18 - 1
16-3712949-C-A c.1728G>T p.E576D Missense 15/18 - 1
16-3712949-C-G c.1728G>C p.E576D Missense 15/18 - 1
16-3712952-TG-AA c.1724_1725delinsTT p.S575F Missense 15/18 - 1
16-3712954-A-G c.1723T>C p.S575P Missense 15/18 - 1
16-3712956-A-G c.1721T>C p.L574P Missense 15/18 - 1
16-3712958-GCA-CTC c.1717_1719delinsGAG p.C573E Missense 15/18 - 1
16-3712958-G-T c.1719C>A p.C573* Nonsense 15/18 - 1
16-3712963-C-A c.1714G>T p.E572* Nonsense 15/18 - 3
16-3712963-C-G c.1714G>C p.E572Q Missense 15/18 - 3
16-3712963-C-T c.1714G>A p.E572K Missense 15/18 - 3
16-3712966-C-T c.1711G>A p.A571T Missense 15/18 - 3
16-3712967-G-A c.1710C>T p.A570= Synonymous 15/18 - 3
16-3712967-G-C c.1710C>G p.A570= Synonymous 15/18 - 2
16-3712967-G-T c.1710C>A p.A570= Synonymous 15/18 - 2
16-3712968-G-T c.1709C>A p.A570D Missense 15/18 - 3
16-3712973-G-A c.1709-5C>T - IntronicSNV - 14/17 1
16-3713391-C-A c.1708+34G>T - IntronicSNV - 14/17 1
16-3713400-C-A c.1708+25G>T - IntronicSNV - 14/17 1
16-3713400-C-T c.1708+25G>A - IntronicSNV - 14/17 1
16-3713401-G-A c.1708+24C>T - IntronicSNV - 14/17 1
16-3713401-G-C c.1708+24C>G - IntronicSNV - 14/17 1
16-3713401-G-T c.1708+24C>A - IntronicSNV - 14/17 1
16-3713428-G-T c.1705C>A p.P569T Missense 14/18 - 1
16-3713432-C-A c.1701G>T p.R567S Missense 14/18 - 1
16-3713432-C-G c.1701G>C p.R567S Missense 14/18 - 1
16-3713452-C-T c.1681G>A p.E561K Missense 14/18 - 1
16-3713458-A-G c.1675T>C p.Y559H Missense 14/18 - 2
16-3713464-C-T c.1669G>A p.D557N Missense 14/18 - 2
16-3713465-C-A c.1668G>T p.V556= Synonymous 14/18 - 1
16-3713465-C-G c.1668G>C p.V556= Synonymous 14/18 - 1
16-3713465-C-T c.1668G>A p.V556= Synonymous 14/18 - 2
16-3713467-C-T c.1666G>A p.V556M Missense 14/18 - 1
16-3713469-AC-CT c.1663_1664delinsAG p.V555S Missense 14/18 - 1
16-3713470-C-T c.1663G>A p.V555I Missense 14/18 - 1
16-3713471-TA-GC c.1661_1662delinsGC p.I554S Missense 14/18 - 1
16-3713476-C-T c.1657G>A p.D553N Missense 14/18 - 1
16-3713478-G-A c.1655C>T p.T552M Missense 14/18 - 3
16-3713481-T-G c.1652A>C p.E551A Missense 14/18 - 1
16-3713485-C-T c.1648G>A p.V550M Missense 14/18 - 1
16-3713486-A-C c.1647T>G p.S549= Synonymous 14/18 - 1
16-3713486-A-G c.1647T>C p.S549= Synonymous 14/18 - 1
16-3713486-A-T c.1647T>A p.S549= Synonymous 14/18 - 1
16-3713487-G-T c.1646C>A p.S549Y Missense 14/18 - 1
16-3713491-T-C c.1642A>G p.I548V Missense 14/18 - 1
16-3713491-TCAG-T c.1639_1641del p.L547del InFrameDeletion 14/18 - 1
16-3713495-CT-GA c.1637_1638delinsTC p.K546I Missense 14/18 - 1
16-3713496-T-C c.1637A>G p.K546R Missense 14/18 - 1
16-3713497-T-G c.1636A>C p.K546Q Missense 14/18 - 5
16-3713498-C-T c.1635G>A p.K545= Synonymous 14/18 - 1
16-3713502-T-C c.1631A>G p.K544R Missense 14/18 - 1
16-3713502-T-G c.1631A>C p.K544T Missense 14/18 - 3
16-3713507-A-G c.1626T>C p.F542= Synonymous 14/18 - 1
16-3713514-C-T c.1619G>A p.R540H Missense 14/18 - 1
16-3713515-G-A c.1618C>T p.R540C Missense 14/18 - 2
16-3713515-G-C c.1618C>G p.R540G Missense 14/18 - 2
16-3713521-G-A c.1612C>T p.H538Y Missense 14/18 - 1
16-3713527-G-T c.1606C>A p.L536M Missense 14/18 - 1
16-3713529-G-A c.1604C>T p.T535I Missense 14/18 - 1
16-3713529-G-C c.1604C>G p.T535S Missense 14/18 - 2
16-3713529-GT-CC c.1603_1604delinsGG p.T535G Missense 14/18 - 1
16-3713530-T-A c.1603A>T p.T535S Missense 14/18 - 1
16-3713531-G-A c.1602C>T p.L534= Synonymous 14/18 - 1
16-3713532-A-G c.1601T>C p.L534P Missense 14/18 - 1
16-3713533-G-A c.1600C>T p.L534F Missense 14/18 - 1
16-3713537-A-C c.1596T>G p.D532E Missense 14/18 - 1
16-3713537-A-T c.1596T>A p.D532E Missense 14/18 - 1
16-3713547-T-C c.1586A>G p.E529G Missense 14/18 - 1
16-3713552-G-A c.1581C>T p.C527= Synonymous 14/18 - 1
16-3713553-CA-GC c.1579_1580delinsGC p.C527A Missense 14/18 - 2
16-3713555-G-C c.1578C>G p.F526L Missense 14/18 - 1
16-3713555-G-T c.1578C>A p.F526L Missense 14/18 - 1
16-3713557-A-G c.1576T>C p.F526L Missense 14/18 - 2
16-3713560-G-A c.1573C>T p.L525F Missense 14/18 - 2
16-3713561-A-C c.1572T>G p.V524= Synonymous 14/18 - 1
16-3713561-A-G c.1572T>C p.V524= Synonymous 14/18 - 1
16-3713561-A-T c.1572T>A p.V524= Synonymous 14/18 - 1
16-3713562-A-G c.1571T>C p.V524A Missense 14/18 - 1
16-3713635-G-A c.1570-72C>T - IntronicSNV - 13/17 1
16-3713994-G-A c.1569+281C>T - IntronicSNV - 13/17 1
16-3714276-T-A c.1568A>T p.E523V Missense 13/18 - 1
16-3714278-T-A c.1566A>T p.T522= Synonymous 13/18 - 1
16-3714278-T-C c.1566A>G p.T522= Synonymous 13/18 - 1
16-3714278-T-G c.1566A>C p.T522= Synonymous 13/18 - 1
16-3714290-C-A c.1554G>T p.K518N Missense 13/18 - 1
16-3714290-C-G c.1554G>C p.K518N Missense 13/18 - 1
16-3714293-C-A c.1551G>T p.M517I Missense 13/18 - 1
16-3714293-C-G c.1551G>C p.M517I Missense 13/18 - 1
16-3714293-C-T c.1551G>A p.M517I Missense 13/18 - 2
16-3714294-A-AT c.1549dup p.M517Nfs*13 Frameshift 13/18 - 1
16-3714309-G-C c.1535C>G p.P512R Missense 13/18 - 1
16-3714310-G-A c.1534C>T p.P512S Missense 13/18 - 1
16-3714314-G-A c.1530C>T p.H510= Synonymous 13/18 - 2
16-3714315-TG-GC c.1528_1529delinsGC p.H510A Missense 13/18 - 1
16-3714317-C-T c.1527G>A p.E509= Synonymous 13/18 - 1
16-3714321-G-A c.1523C>T p.A508V Missense 13/18 - 2
16-3714324-AG-GA c.1519_1520delinsTC p.L507S Missense 13/18 - 1
16-3714324-AG-TT c.1519_1520delinsAA p.L507K Missense 13/18 - 1
16-3714329-A-G c.1515T>C p.R505= Synonymous 13/18 - 1
16-3714331-G-A c.1513C>T p.R505C Missense 13/18 - 1
16-3714332-GT-G c.1511del p.N504Tfs*14 Frameshift 13/18 - 1
16-3714337-G-A c.1507C>T p.P503S Missense 13/18 - 2
16-3714339-G-A c.1505C>T p.A502V Missense 13/18 - 1
16-3714341-G-A c.1503C>T p.C501= Synonymous 13/18 - 2
16-3714341-G-C c.1503C>G p.C501W Missense 13/18 - 1
16-3714342-CA-GC c.1501_1502delinsGC p.C501A Missense 13/18 - 1
16-3714342-C-G c.1502G>C p.C501S Missense 13/18 - 3
16-3714343-A-T c.1501T>A p.C501S Missense 13/18 - 3
16-3714347-G-C c.1497C>G p.Y499* Nonsense 13/18 - 1
16-3714347-G-T c.1497C>A p.Y499* Nonsense 13/18 - 1
16-3714351-T-C c.1493A>G p.Y498C Missense 13/18 - 1
16-3714359-GC-TT c.1484_1485delinsAA p.R495Q Missense 13/18 - 1
16-3714360-C-T c.1484G>A p.R495H Missense 13/18 - 1
16-3714361-G-A c.1483C>T p.R495C Missense 13/18 - 4
16-3714361-G-C c.1483C>G p.R495G Missense 13/18 - 1
16-3714364-TGCC-T c.1477_1479del p.G493del InFrameDeletion 13/18 - 1
16-3714368-G-A c.1476C>T p.A492= Synonymous 13/18 - 1
16-3714368-G-C c.1476C>G p.A492= Synonymous 13/18 - 1
16-3714368-G-T c.1476C>A p.A492= Synonymous 13/18 - 1
16-3714372-C-T c.1472G>A p.R491Q Missense 13/18 - 1
16-3714373-G-A c.1471C>T p.R491W Missense 13/18 - 1
16-3714374-C-A c.1470G>T p.M490I Missense 13/18 - 1
16-3714374-C-G c.1470G>C p.M490I Missense 13/18 - 1
16-3714374-C-T c.1470G>A p.M490I Missense 13/18 - 1
16-3714378-C-T c.1466G>A p.R489H Missense 13/18 - 2
16-3714387-T-A c.1457A>T p.Y486F Missense 13/18 - 1
16-3714387-T-C c.1457A>G p.Y486C Missense 13/18 - 1
16-3714391-C-G c.1453G>C p.E485Q Missense 13/18 - 1
16-3714395-G-A c.1449C>T p.L483= Synonymous 13/18 - 1
16-3714395-G-C c.1449C>G p.L483= Synonymous 13/18 - 1
16-3714395-G-T c.1449C>A p.L483= Synonymous 13/18 - 1
16-3714399-CT-AG c.1444_1445inv p.S482L Missense 13/18 - 1
16-3714407-C-A c.1437G>T p.Q479H Missense 13/18 - 2
16-3714407-C-G c.1437G>C p.Q479H Missense 13/18 - 2
16-3714410-C-ACCA c.1434delinsTGGT p.G478dup MultiAAMissense 13/18 - 1
16-3714411-C-T c.1433G>A p.G478E Missense 13/18 - 1
16-3714411-C-CCGG c.1430_1432dup p.S477_G478insA InFrameInsertion 13/18 - 1
16-3714411-C-CCTG c.1432_1433insCAG p.S477_G478insA InFrameInsertion 13/18 - 2
16-3714412-C-T c.1432G>A p.G478R Missense 13/18 - 1
16-3714413-G-A c.1431C>T p.S477= Synonymous 13/18 - 4
16-3714413-G-C c.1431C>G p.S477= Synonymous 13/18 - 3
16-3714413-G-T c.1431C>A p.S477= Synonymous 13/18 - 3
16-3714414-G-A c.1430C>T p.S477F Missense 13/18 - 3
16-3714414-GA-TT c.1429_1430delinsAA p.S477N Missense 13/18 - 3
16-3714415-A-C c.1429T>G p.S477A Missense 13/18 - 1
16-3714421-G-A c.1423C>T p.L475= Synonymous 13/18 - 1
16-3714428-G-A c.1416C>T p.S472= Synonymous 13/18 - 1
16-3714429-G-A c.1415C>T p.S472F Missense 13/18 - 4
16-3714438-C-G c.1406G>C p.R469P Missense 13/18 - 4
16-3714438-C-T c.1406G>A p.R469H Missense 13/18 - 25
16-3714439-G-A c.1405C>T p.R469C Missense 13/18 - 4
16-3714443-C-T c.1401G>A p.L467= Synonymous 13/18 - 1
16-3714445-G-GT c.1398_1399insA p.L467Tfs*49 Frameshift 13/18 - 1
16-3714446-C-T c.1398G>A p.K466= Synonymous 13/18 - 1
16-3714450-G-T c.1394C>A p.A465E Missense 13/18 - 2
16-3714453-A-AT c.1390dup p.I464Nfs*52 Frameshift 13/18 - 1
16-3714455-G-C c.1389C>G p.D463E Missense 13/18 - 1
16-3714455-G-T c.1389C>A p.D463E Missense 13/18 - 1
16-3714460-C-T c.1384G>A p.E462K Missense 13/18 - 1
16-3714497-C-T c.1384-37G>A - IntronicSNV - 12/17 1
16-3714611-C-G c.1384-151G>C - IntronicSNV - 12/17 1
16-3714611-C-T c.1384-151G>A - IntronicSNV - 12/17 1
16-3715969-T-C c.1383+3A>G - IntronicSNV - 12/17 1
16-3715974-T-C c.1381A>G p.K461E Missense 12/18 - 1
16-3715983-G-A c.1372C>T p.Q458* Nonsense 12/18 - 1
16-3715984-C-T c.1371G>A p.E457= Synonymous 12/18 - 1
16-3715986-C-A c.1369G>T p.E457* Nonsense 12/18 - 2
16-3715986-C-T c.1369G>A p.E457K Missense 12/18 - 4
16-3715990-G-A c.1365C>T p.A455= Synonymous 12/18 - 1
16-3715990-G-C c.1365C>G p.A455= Synonymous 12/18 - 1
16-3715990-G-T c.1365C>A p.A455= Synonymous 12/18 - 1
16-3715993-G-A c.1362C>T p.T454= Synonymous 12/18 - 1
16-3715993-G-C c.1362C>G p.T454= Synonymous 12/18 - 1
16-3715993-G-T c.1362C>A p.T454= Synonymous 12/18 - 1
16-3716001-T-C c.1354A>G p.I452V Missense 12/18 - 1
16-3716003-C-G c.1352G>C p.G451A Missense 12/18 - 1
16-3716004-C-T c.1351G>A p.G451S Missense 12/18 - 1
16-3716008-CCG-ACA c.1345_1347delinsTGT p.R449C Missense 12/18 - 1
16-3716009-C-T c.1346G>A p.R449Q Missense 12/18 - 2
16-3716010-G-A c.1345C>T p.R449W Missense 12/18 - 3
16-3716021-C-G c.1334G>C p.G445A Missense 12/18 - 1
16-3716022-C-T c.1333G>A p.G445S Missense 12/18 - 1
16-3716025-A-G c.1330T>C p.Y444H Missense 12/18 - 2
16-3716025-A-T c.1330T>A p.Y444N Missense 12/18 - 22
16-3716028-C-G c.1327G>C p.D443H Missense 12/18 - 2
16-3716028-C-T c.1327G>A p.D443N Missense 12/18 - 1
16-3716031-C-A c.1324G>T p.E442* Nonsense 12/18 - 2
16-3716031-C-T c.1324G>A p.E442K Missense 12/18 - 5
16-3716036-A-C c.1319T>G p.F440C Missense 12/18 - 1
16-3716036-A-G c.1319T>C p.F440S Missense 12/18 - 1
16-3716038-CTT-ACA c.1315_1317delinsTGT p.K439C Missense 12/18 - 1
16-3716038-CTT-C c.1315_1316del p.K439Vfs*3 Frameshift 12/18 - 2
16-3716042-G-A c.1313C>T p.A438V Missense 12/18 - 1
16-3716047-C-T c.1308G>A p.K436= Synonymous 12/18 - 1
16-3716054-G-A c.1301C>T p.A434V Missense 12/18 - 2
16-3716062-T-C c.1293A>G p.K431= Synonymous 12/18 - 1
16-3716070-G-T c.1285C>A p.Q429K Missense 12/18 - 2
16-3716073-C-A c.1282G>T p.D428Y Missense 12/18 - 1
16-3716074-A-C c.1281T>G p.I427M Missense 12/18 - 1
16-3716075-A-T c.1280T>A p.I427N Missense 12/18 - 1
16-3716081-A-ACGG c.1273_1274insCCG p.F425delinsSV MultiAAMissense 12/18 - 1
16-3716083-T-C c.1272A>G p.K424= Synonymous 12/18 - 1
16-3716089-C-A c.1266G>T p.L422= Synonymous 12/18 - 1
16-3716089-C-G c.1266G>C p.L422= Synonymous 12/18 - 1
16-3716089-C-T c.1266G>A p.L422= Synonymous 12/18 - 1
16-3716091-G-A c.1264C>T p.L422= Synonymous 12/18 - 1
16-3716090-A-T c.1265T>A p.L422Q Missense 12/18 - 1
16-3716094-T-C c.1261A>G p.R421G Missense 12/18 - 1
16-3716098-C-T c.1257G>A p.Q419= Synonymous 12/18 - 1
16-3716100-G-A c.1255C>T p.Q419* Nonsense 12/18 - 1
16-3716106-C-T c.1249G>A p.V417I Missense 12/18 - 1
16-3716107-G-A c.1248C>T p.D416= Synonymous 12/18 - 1
16-3716109-C-T c.1246G>A p.D416N Missense 12/18 - 1
16-3716111-C-T c.1244G>A p.R415Q Missense 12/18 - 1
16-3716112-G-A c.1243C>T p.R415W Missense 12/18 - 2
16-3716116-TTT-ACA c.1237_1239delinsTGT p.K413C Missense 12/18 - 1
16-3716119-C-T c.1236G>A p.R412= Synonymous 12/18 - 1
16-3721724-T-G c.1234A>C p.R412= Synonymous 11/18 - 1
16-3716187-G-A c.1236-68C>T - IntronicSNV - 11/17 1
16-3721672-G-A c.1235+51C>T - IntronicSNV - 11/17 1
16-3721723-C-T c.1235G>A p.R412K Missense 11/18 - 1
16-3721726-A-C c.1232T>G p.I411S Missense 11/18 - 1
16-3721731-GT-G c.1227del p.L410Sfs*13 Frameshift 11/18 - 1
16-3721732-G-C c.1226C>G p.A409G Missense 11/18 - 2
16-3721734-G-A c.1224C>T p.S408= Synonymous 11/18 - 1
16-3721735-C-T c.1223G>A p.S408N Missense 11/18 - 1
16-3721737-C-A c.1221G>T p.E407D Missense 11/18 - 2
16-3721737-C-G c.1221G>C p.E407D Missense 11/18 - 2
16-3721737-CTC-ACA c.1219_1221delinsTGT p.E407C Missense 11/18 - 1
16-3721740-C-T c.1218G>A p.Q406= Synonymous 11/18 - 1
16-3721743-C-A c.1215G>T p.L405= Synonymous 11/18 - 1
16-3721743-C-G c.1215G>C p.L405= Synonymous 11/18 - 1
16-3721743-C-T c.1215G>A p.L405= Synonymous 11/18 - 1
16-3721745-G-A c.1213C>T p.L405= Synonymous 11/18 - 1
16-3721753-CG-GC c.1204_1205delinsGC p.R402A Missense 11/18 - 2
16-3721752-C-A c.1206G>T p.R402= Synonymous 11/18 - 1
16-3721752-C-G c.1206G>C p.R402= Synonymous 11/18 - 1
16-3721752-C-T c.1206G>A p.R402= Synonymous 11/18 - 1
16-3721754-G-A c.1204C>T p.R402W Missense 11/18 - 2
16-3721754-G-T c.1204C>A p.R402= Synonymous 11/18 - 1
16-3721760-G-T c.1198C>A p.L400I Missense 11/18 - 2
16-3721764-C-T c.1194G>A p.L398= Synonymous 11/18 - 1
16-3721766-G-T c.1192C>A p.L398M Missense 11/18 - 1
16-3721768-G-T c.1190C>A p.P397H Missense 11/18 - 1
16-3721769-G-A c.1189C>T p.P397S Missense 11/18 - 4
16-3721773-G-A c.1185C>T p.D395= Synonymous 11/18 - 2
16-3721773-G-C c.1185C>G p.D395E Missense 11/18 - 28
16-3721773-G-T c.1185C>A p.D395E Missense 11/18 - 7
16-3721782-G-A c.1176C>T p.D392= Synonymous 11/18 - 1
16-3721786-A-G c.1172T>C p.V391A Missense 11/18 - 1
16-3721787-C-G c.1171G>C p.V391L Missense 11/18 - 1
16-3721789-A-C c.1169T>G p.V390G Missense 11/18 - 1
16-3721792-C-G c.1166G>C p.G389A Missense 11/18 - 1
16-3721804-G-A c.1166-12C>T - IntronicSNV - 10/17 1
16-3722517-T-G c.1165+184A>C - IntronicSNV - 10/17 1
16-3722622-G-C c.1165+79C>G - IntronicSNV - 10/17 1
16-3722696-C-T c.1165+5G>A - IntronicSNV - 10/17 1
16-3722701-C-A c.1165G>T p.G389C Missense 10/18 - 1
16-3722702-TCG-ACA c.1162_1164delinsTGT p.R388C Missense 10/18 - 1
16-3722703-C-T c.1163G>A p.R388Q Missense 10/18 - 1
16-3722704-G-A c.1162C>T p.R388* Nonsense 10/18 - 4
16-3722705-G-A c.1161C>T p.I387= Synonymous 10/18 - 2
16-3722713-G-A c.1153C>T p.R385C Missense 10/18 - 1
16-3722720-C-T c.1146G>A p.K382= Synonymous 10/18 - 1
16-3722722-T-C c.1144A>G p.K382E Missense 10/18 - 1
16-3722723-G-A c.1143C>T p.P381= Synonymous 10/18 - 2
16-3722723-G-C c.1143C>G p.P381= Synonymous 10/18 - 2
16-3722723-G-T c.1143C>A p.P381= Synonymous 10/18 - 2
16-3722727-A-G c.1139T>C p.L380P Missense 10/18 - 1
16-3722732-G-C c.1134C>G p.D378E Missense 10/18 - 1
16-3722732-G-T c.1134C>A p.D378E Missense 10/18 - 1
16-3722734-C-T c.1132G>A p.D378N Missense 10/18 - 1
16-3722735-C-T c.1131G>A p.T377= Synonymous 10/18 - 2
16-3722736-G-A c.1130C>T p.T377M Missense 10/18 - 1
16-3722737-T-C c.1129A>G p.T377A Missense 10/18 - 1
16-3722739-G-C c.1127C>G p.A376G Missense 10/18 - 1
16-3722740-C-A c.1126G>T p.A376S Missense 10/18 - 1
16-3722740-C-T c.1126G>A p.A376T Missense 10/18 - 1
16-3722741-C-T c.1125G>A p.K375= Synonymous 10/18 - 2
16-3722756-GAC-CAT c.1108_1110delinsATG p.V370M Missense 10/18 - 1
16-3722763-C-T c.1103G>A p.R368H Missense 10/18 - 5
16-3722764-G-A c.1102C>T p.R368C Missense 10/18 - 1
16-3722768-G-A c.1098C>T p.Y366= Synonymous 10/18 - 1
16-3722772-A-G c.1094T>C p.L365P Missense 10/18 - 2
16-3722785-A-C c.1081T>G p.S361A Missense 10/18 - 1
16-3722789-C-A c.1077G>T p.L359= Synonymous 10/18 - 1
16-3722789-C-G c.1077G>C p.L359= Synonymous 10/18 - 1
16-3722789-C-T c.1077G>A p.L359= Synonymous 10/18 - 1
16-3722791-G-A c.1075C>T p.L359= Synonymous 10/18 - 1
16-3722793-T-C c.1073A>G p.E358G Missense 10/18 - 1
16-3722795-C-T c.1071G>A p.R357= Synonymous 10/18 - 1
16-3722801-CAC-GAT c.1063_1065delinsATC p.V355I Missense 10/18 - 1
16-3722806-C-A c.1060G>T p.D354Y Missense 10/18 - 1
16-3722810-C-A c.1056G>T p.M352I Missense 10/18 - 1
16-3722812-T-C c.1054A>G p.M352V Missense 10/18 - 4
16-3722817-G-A c.1049C>T p.P350L Missense 10/18 - 1
16-3722817-G-T c.1049C>A p.P350Q Missense 10/18 - 1
16-3722819-T-C c.1047A>G p.K349= Synonymous 10/18 - 1
16-3723046-C-G c.1045-225G>C - IntronicSNV - 9/17 2
16-3724276-G-C c.1044+64C>G - IntronicSNV - 9/17 1
16-3724343-G-C c.1041C>G p.D347E Missense 9/18 - 1
16-3724343-G-T c.1041C>A p.D347E Missense 9/18 - 1
16-3724345-C-T c.1039G>A p.D347N Missense 9/18 - 3
16-3724346-G-A c.1038C>T p.P346= Synonymous 9/18 - 3
16-3724346-G-C c.1038C>G p.P346= Synonymous 9/18 - 2
16-3724346-G-T c.1038C>A p.P346= Synonymous 9/18 - 1
16-3724350-A-G c.1034T>C p.V345A Missense 9/18 - 1
16-3724352-G-A c.1032C>T p.Y344= Synonymous 9/18 - 7
16-3724353-T-C c.1031A>G p.Y344C Missense 9/18 - 1
16-3724357-A-G c.1027T>C p.F343L Missense 9/18 - 1
16-3724358-G-C c.1026C>G p.I342M Missense 9/18 - 3
16-3724364-GCG-CCA c.1018_1020delinsTGG p.R340W Missense 9/18 - 1
16-3724365-C-T c.1019G>A p.R340H Missense 9/18 - 2
16-3724366-G-A c.1018C>T p.R340C Missense 9/18 - 7
16-3724369-T-C c.1015A>G p.I339V Missense 9/18 - 1
16-3724372-T-A c.1012A>T p.N338Y Missense 9/18 - 1
16-3724377-G-A c.1007C>T p.P336L Missense 9/18 - 1
16-3724380-G-A c.1004C>T p.A335V Missense 9/18 - 1
16-3724381-C-A c.1003G>T p.A335S Missense 9/18 - 1
16-3724381-C-T c.1003G>A p.A335T Missense 9/18 - 3
16-3724384-C-T c.1000G>A p.D334N Missense 9/18 - 5
16-3724386-G-A c.998C>T p.T333M Missense 9/18 - 1
16-3724387-T-A c.997A>T p.T333S Missense 9/18 - 1
16-3724388-C-T c.996G>A p.K332= Synonymous 9/18 - 1
16-3724389-T-C c.995A>G p.K332R Missense 9/18 - 1
16-3724398-A-G c.986T>C p.L329P Missense 9/18 - 1
16-3724412-C-T c.972G>A p.K324= Synonymous 9/18 - 1
16-3724417-C-T c.967G>A p.D323N Missense 9/18 - 2
16-3724418-G-A c.966C>T p.H322= Synonymous 9/18 - 2
16-3724419-T-G c.965A>C p.H322P Missense 9/18 - 1
16-3724426-G-T c.958C>A p.Q320K Missense 9/18 - 1
16-3724427-C-A c.957G>T p.A319= Synonymous 9/18 - 3
16-3724427-C-G c.957G>C p.A319= Synonymous 9/18 - 3
16-3724427-C-T c.957G>A p.A319= Synonymous 9/18 - 3
16-3724428-G-A c.956C>T p.A319V Missense 9/18 - 4
16-3724433-G-A c.951C>T p.Y317= Synonymous 9/18 - 1
16-3724433-G-C c.951C>G p.Y317* Nonsense 9/18 - 1
16-3724433-G-T c.951C>A p.Y317* Nonsense 9/18 - 1
16-3724437-C-T c.947G>A p.R316H Missense 9/18 - 2
16-3724444-ACTC-A c.937_939del p.E313del InFrameDeletion 9/18 - 1
16-3724450-C-A c.934G>T p.E312* Nonsense 9/18 - 2
16-3724451-A-G c.933T>C p.H311= Synonymous 9/18 - 1
16-3724452-T-C c.932A>G p.H311R Missense 9/18 - 1
16-3724453-G-A c.931C>T p.H311Y Missense 9/18 - 1
16-3724463-A-C c.921T>G p.R307= Synonymous 9/18 - 2
16-3724463-A-G c.921T>C p.R307= Synonymous 9/18 - 2
16-3724463-A-T c.921T>A p.R307= Synonymous 9/18 - 2
16-3724465-G-A c.919C>T p.R307C Missense 9/18 - 1
16-3724465-G-C c.919C>G p.R307G Missense 9/18 - 38
16-3724465-G-T c.919C>A p.R307S Missense 9/18 - 9
16-3724467-A-G c.917T>C p.V306A Missense 9/18 - 1
16-3724468-C-T c.916G>A p.V306I Missense 9/18 - 1
16-3724479-T-A c.905A>T p.D302V Missense 9/18 - 1
16-3724480-C-G c.904G>C p.D302H Missense 9/18 - 1
16-3724495-C-T c.889G>A p.A297T Missense 9/18 - 4
16-3724556-G-A c.889-61C>T - IntronicSNV - 8/17 1
16-3724556-G-T c.889-61C>A - IntronicSNV - 8/17 1
16-3725327-G-A c.886C>T p.Q296* Nonsense 8/18 - 2
16-3725332-G-A c.881C>T p.T294I Missense 8/18 - 2
16-3725333-T-C c.880A>G p.T294A Missense 8/18 - 1
16-3725336-T-C c.877A>G p.N293D Missense 8/18 - 1
16-3725337-C-A c.876G>T p.M292I Missense 8/18 - 1
16-3725347-C-G c.866G>C p.G289A Missense 8/18 - 1
16-3725348-C-T c.865G>A p.G289R Missense 8/18 - 1
16-3725356-TAC-T c.855_856del p.Y286Lfs*22 Frameshift 8/18 - 1
16-3725361-G-A c.852C>T p.P284= Synonymous 8/18 - 1
16-3725364-G-A c.849C>T p.F283= Synonymous 8/18 - 1
16-3725364-G-C c.849C>G p.F283L Missense 8/18 - 1
16-3725364-G-T c.849C>A p.F283L Missense 8/18 - 1
16-3725366-A-G c.847T>C p.F283L Missense 8/18 - 2
16-3725368-C-T c.845G>A p.S282N Missense 8/18 - 1
16-3725369-T-C c.844A>G p.S282G Missense 8/18 - 1
16-3725372-C-T c.841G>A p.V281I Missense 8/18 - 5
16-3725373-G-A c.840C>T p.F280= Synonymous 8/18 - 2
16-3725376-G-A c.837C>T p.N279= Synonymous 8/18 - 1
16-3725376-G-C c.837C>G p.N279K Missense 8/18 - 1
16-3725376-G-T c.837C>A p.N279K Missense 8/18 - 1
16-3725385-C-A c.828G>T p.K276N Missense 8/18 - 1
16-3725385-C-G c.828G>C p.K276N Missense 8/18 - 1
16-3725388-C-T c.825G>A p.T275= Synonymous 8/18 - 1
16-3725393-C-T c.820G>A p.V274I Missense 8/18 - 1
16-3725395-A-C c.818T>G p.V273G Missense 8/18 - 1
16-3725682-G-A c.815-284C>T - IntronicSNV - 7/17 1
16-3725682-G-T c.815-284C>A - IntronicSNV - 7/17 1
16-3725891-C-T c.814+146G>A - IntronicSNV - 7/17 1
16-3726035-A-G c.814+2T>C - IntronicSNV - 7/17 1
16-3726039-C-T c.812G>A p.R271Q Missense 7/18 - 1
16-3726040-G-A c.811C>T p.R271* Nonsense 7/18 - 1
16-3726041-C-A c.810G>T p.V270= Synonymous 7/18 - 1
16-3726042-A-G c.809T>C p.V270A Missense 7/18 - 1
16-3726043-C-G c.808G>C p.V270L Missense 7/18 - 1
16-3726046-G-A c.805C>T p.R269W Missense 7/18 - 3
16-3726049-C-T c.802G>A p.A268T Missense 7/18 - 1
16-3726050-C-A c.801G>T p.E267D Missense 7/18 - 1
16-3726050-C-G c.801G>C p.E267D Missense 7/18 - 1
16-3726052-C-A c.799G>T p.E267* Nonsense 7/18 - 1
16-3726052-C-T c.799G>A p.E267K Missense 7/18 - 2
16-3726057-G-T c.794C>A p.S265Y Missense 7/18 - 1
16-3726062-C-T c.789G>A p.E263= Synonymous 7/18 - 1
16-3726064-C-T c.787G>A p.E263K Missense 7/18 - 3
16-3726065-C-T c.786G>A p.K262= Synonymous 7/18 - 2
16-3726069-C-G c.782G>C p.C261S Missense 7/18 - 1
16-3726070-A-T c.781T>A p.C261S Missense 7/18 - 1
16-3726071-G-A c.780C>T p.D260= Synonymous 7/18 - 1
16-3726071-G-C c.780C>G p.D260E Missense 7/18 - 1
16-3726071-G-T c.780C>A p.D260E Missense 7/18 - 1
16-3726070-AGTC-A c.778_780del p.D260del InFrameDeletion 7/18 - 2
16-3726072-T-A c.779A>T p.D260V Missense 7/18 - 1
16-3726073-C-A c.778G>T p.D260Y Missense 7/18 - 1
16-3726073-C-T c.778G>A p.D260N Missense 7/18 - 2
16-3726074-G-A c.777C>T p.S259= Synonymous 7/18 - 5
16-3726074-G-C c.777C>G p.S259= Synonymous 7/18 - 5
16-3726074-G-T c.777C>A p.S259= Synonymous 7/18 - 3
16-3726075-G-A c.776C>T p.S259F Missense 7/18 - 9
16-3726075-GA-AG c.775_776delinsCT p.S259L Missense 7/18 - 2
16-3726075-GA-CG c.775_776delinsCG p.S259R Missense 7/18 - 1
16-3726075-G-C c.776C>G p.S259C Missense 7/18 - 3
16-3726076-A-G c.775T>C p.S259P Missense 7/18 - 2
16-3726082-G-A c.769C>T p.L257= Synonymous 7/18 - 1
16-3726082-G-C c.769C>G p.L257V Missense 7/18 - 1
16-3726086-G-A c.765C>T p.I255= Synonymous 7/18 - 3
16-3726087-A-G c.764T>C p.I255T Missense 7/18 - 1
16-3726089-G-A c.762C>T p.I254= Synonymous 7/18 - 2
16-3726089-G-T c.762C>A p.I254= Synonymous 7/18 - 1
16-3726091-T-C c.760A>G p.I254V Missense 7/18 - 2
16-3726093-A-G c.758T>C p.I253T Missense 7/18 - 1
16-3726094-T-A c.757A>T p.I253F Missense 7/18 - 1
16-3726094-T-C c.757A>G p.I253V Missense 7/18 - 13
16-3726100-T-A c.751A>T p.T251S Missense 7/18 - 1
16-3726101-C-A c.750G>T p.G250= Synonymous 7/18 - 1
16-3726101-C-G c.750G>C p.G250= Synonymous 7/18 - 1
16-3726101-C-T c.750G>A p.G250= Synonymous 7/18 - 2
16-3726102-C-A c.749G>T p.G250V Missense 7/18 - 1
16-3726102-C-G c.749G>C p.G250A Missense 7/18 - 1
16-3726103-C-T c.748G>A p.G250R Missense 7/18 - 1
16-3726108-C-G c.743G>C p.R248T Missense 7/18 - 1
16-3726110-AAC-CAT c.739_741delinsATG p.V247M Missense 7/18 - 1
16-3726114-C-G c.737G>C p.G246A Missense 7/18 - 1
16-3726115-C-T c.736G>A p.G246R Missense 7/18 - 1
16-3726117-G-A c.734C>T p.S245L Missense 7/18 - 3
16-3726120-G-C c.731C>G p.A244G Missense 7/18 - 2
16-3726121-C-G c.730G>C p.A244P Missense 7/18 - 1
16-3726124-C-T c.727G>A p.E243K Missense 7/18 - 1
16-3726126-G-A c.725C>T p.A242V Missense 7/18 - 4
16-3726127-C-T c.724G>A p.A242T Missense 7/18 - 3
16-3726128-G-A c.723C>T p.I241= Synonymous 7/18 - 1
16-3726128-G-T c.723C>A p.I241= Synonymous 7/18 - 1
16-3726133-C-T c.718G>A p.E240K Missense 7/18 - 2
16-3726141-C-T c.710G>A p.G237E Missense 7/18 - 1
16-3726160-A-G c.705-14T>C - IntronicSNV - 6/17 11
16-3726436-A-G c.705-290T>C - IntronicSNV - 6/17 1
16-3727499-C-T c.704G>A p.G235D Missense 6/18 - 1
16-3727509-G-A c.694C>T p.L232F Missense 6/18 - 1
16-3727510-C-T c.693G>A p.W231* Nonsense 6/18 - 1
16-3727514-T-C c.689A>G p.Q230R Missense 6/18 - 1
16-3727516-G-A c.687C>T p.Y229= Synonymous 6/18 - 2
16-3727516-G-C c.687C>G p.Y229* Nonsense 6/18 - 1
16-3727516-G-T c.687C>A p.Y229* Nonsense 6/18 - 1
16-3727520-C-T c.683G>A p.G228D Missense 6/18 - 1
16-3727525-G-C c.678C>G p.S226R Missense 6/18 - 1
16-3727531-C-A c.672G>T p.P224= Synonymous 6/18 - 1
16-3727531-C-G c.672G>C p.P224= Synonymous 6/18 - 1
16-3727531-C-T c.672G>A p.P224= Synonymous 6/18 - 2
16-3727532-G-A c.671C>T p.P224L Missense 6/18 - 2
16-3727535-G-A c.668C>T p.A223V Missense 6/18 - 1
16-3727541-G-A c.662C>T p.S221L Missense 6/18 - 1
16-3727543-GC-TT c.659_660delinsAA p.R220Q Missense 6/18 - 1
16-3727547-G-A c.656C>T p.S219F Missense 6/18 - 2
16-3727553-A-G c.650T>C p.V217A Missense 6/18 - 1
16-3727557-C-A c.646G>T p.E216* Nonsense 6/18 - 1
16-3727558-CAC-GAT c.643_645delinsATC p.V215I Missense 6/18 - 1
16-3727561-T-A c.642A>T p.R214S Missense 6/18 - 1
16-3727561-T-G c.642A>C p.R214S Missense 6/18 - 1
16-3727563-T-C c.640A>G p.R214G Missense 6/18 - 1
16-3727567-A-C c.636T>G p.A212= Synonymous 6/18 - 1
16-3727567-A-G c.636T>C p.A212= Synonymous 6/18 - 1
16-3727567-A-T c.636T>A p.A212= Synonymous 6/18 - 1
16-3727574-A-G c.629T>C p.M210T Missense 6/18 - 3
16-3727577-A-G c.626T>C p.F209S Missense 6/18 - 1
16-3727579-A-C c.624T>G p.A208= Synonymous 6/18 - 1
16-3727579-A-G c.624T>C p.A208= Synonymous 6/18 - 1
16-3727579-A-T c.624T>A p.A208= Synonymous 6/18 - 1
16-3727582-TG-AC c.620_621delinsGT p.S207C Missense 6/18 - 1
16-3727584-A-C c.619T>G p.S207A Missense 6/18 - 1
16-3727592-C-G c.611G>C p.G204A Missense 6/18 - 1
16-3727593-C-A c.610G>T p.G204C Missense 6/18 - 1
16-3727593-C-T c.610G>A p.G204S Missense 6/18 - 1
16-3727597-TC-GT c.605_606delinsAC p.G202D Missense 6/18 - 1
16-3727598-C-G c.605G>C p.G202A Missense 6/18 - 2
16-3727601-AA-GC c.601_602delinsGC p.F201A Missense 6/18 - 1
16-3727604-TG-GC c.598_599delinsGC p.Q200A Missense 6/18 - 1
16-3727605-G-T c.598C>A p.Q200K Missense 6/18 - 2
16-3727609-G-A c.594C>T p.I198= Synonymous 6/18 - 2
16-3727612-G-C c.591C>G p.I197M Missense 6/18 - 1
16-3727618-G-A c.585C>T p.S195= Synonymous 6/18 - 1
16-3727626-C-T c.577G>A p.A193T Missense 6/18 - 1
16-3727627-C-A c.576G>T p.E192D Missense 6/18 - 1
16-3727627-C-G c.576G>C p.E192D Missense 6/18 - 1
16-3727629-C-T c.574G>A p.E192K Missense 6/18 - 4
16-3727636-G-A c.567C>T p.N189= Synonymous 6/18 - 1
16-3727636-G-C c.567C>G p.N189K Missense 6/18 - 1
16-3727636-G-T c.567C>A p.N189K Missense 6/18 - 1
16-3727641-G-C c.562C>G p.Q188E Missense 6/18 - 1
16-3727642-C-A c.561G>T p.L187= Synonymous 6/18 - 1
16-3727642-C-G c.561G>C p.L187= Synonymous 6/18 - 1
16-3727642-C-T c.561G>A p.L187= Synonymous 6/18 - 1
16-3727644-G-A c.559C>T p.L187= Synonymous 6/18 - 1
16-3727647-C-A c.556G>T p.A186S Missense 6/18 - 1
16-3727648-A-C c.555T>G p.D185E Missense 6/18 - 3
16-3727648-A-T c.555T>A p.D185E Missense 6/18 - 1
16-3727649-T-G c.554A>C p.D185A Missense 6/18 - 1
16-3727657-G-T c.546C>A p.A182= Synonymous 6/18 - 4
16-3728140-T-A c.544-481A>T - IntronicSNV - 5/17 1
16-3728140-T-C c.544-481A>G - IntronicSNV - 5/17 1
16-3728421-G-A c.544-762C>T - IntronicSNV - 5/17 1
16-3728517-C-G c.544-858G>C - IntronicSNV - 5/17 1
16-3728517-C-T c.544-858G>A - IntronicSNV - 5/17 1
16-3729685-G-A c.543+35C>T - IntronicSNV - 5/17 1
16-3729685-G-T c.543+35C>A - IntronicSNV - 5/17 1
16-3729714-G-A c.543+6C>T - IntronicSNV - 5/17 3
16-3729721-T-C c.542A>G p.K181R Missense 5/18 - 1
16-3729728-C-T c.535G>A p.G179R Missense 5/18 - 1
16-3729730-G-A c.533C>T p.S178L Missense 5/18 - 3
16-3729735-GG-CT c.527_528delinsAG p.A176E Missense 5/18 - 1
16-3729736-G-A c.527C>T p.A176V Missense 5/18 - 2
16-3729737-C-T c.526G>A p.A176T Missense 5/18 - 1
16-3729742-G-A c.521C>T p.T174M Missense 5/18 - 1
16-3729743-T-C c.520A>G p.T174A Missense 5/18 - 1
16-3729745-C-T c.518G>A p.G173E Missense 5/18 - 1
16-3729746-C-G c.517G>C p.G173R Missense 5/18 - 1
16-3729746-C-T c.517G>A p.G173R Missense 5/18 - 1
16-3729751-T-A c.512A>T p.N171I Missense 5/18 - 1
16-3729751-T-C c.512A>G p.N171S Missense 5/18 - 1
16-3729753-G-A c.510C>T p.S170= Synonymous 5/18 - 1
16-3729753-G-C c.510C>G p.S170= Synonymous 5/18 - 1
16-3729753-G-T c.510C>A p.S170= Synonymous 5/18 - 1
16-3729754-G-A c.509C>T p.S170F Missense 5/18 - 1
16-3729754-G-C c.509C>G p.S170C Missense 5/18 - 7
16-3729756-AC-A c.507del p.S170Pfs*88 Frameshift 5/18 - 2
16-3729764-C-T c.499G>A p.E167K Missense 5/18 - 1
16-3729770-G-A c.493C>T p.Q165* Nonsense 5/18 - 1
16-3729770-G-C c.493C>G p.Q165E Missense 5/18 - 4
16-3729772-G-T c.491C>A p.T164K Missense 5/18 - 1
16-3729776-T-A c.487A>T p.M163L Missense 5/18 - 1
16-3729779-C-G c.484G>C p.G162R Missense 5/18 - 1
16-3729779-C-T c.484G>A p.G162R Missense 5/18 - 2
16-3729781-A-G c.482T>C p.I161T Missense 5/18 - 1
16-3729784-C-G c.479G>C p.G160A Missense 5/18 - 2
16-3729784-C-T c.479G>A p.G160D Missense 5/18 - 1
16-3729790-T-C c.473A>G p.D158G Missense 5/18 - 1
16-3729790-T-G c.473A>C p.D158A Missense 5/18 - 3
16-3729791-C-T c.472G>A p.D158N Missense 5/18 - 5
16-3732640-C-T c.472-2849G>A - IntronicSNV - 4/17 1
16-3733472-C-T c.471+2525G>A - IntronicSNV - 4/17 1
16-3735934-A-C c.471+63T>G - IntronicSNV - 4/17 1
16-3736003-G-A c.465C>T p.T155= Synonymous 4/18 - 1
16-3736003-G-C c.465C>G p.T155= Synonymous 4/18 - 1
16-3736003-G-T c.465C>A p.T155= Synonymous 4/18 - 1
16-3736011-GT-G c.457del p.T153Pfs*11 Frameshift 4/18 - 1
16-3736014-C-T c.454G>A p.G152S Missense 4/18 - 1
16-3736020-C-CA c.447_448insT p.E150* Nonsense 4/18 - 1
16-3736020-C-T c.448G>A p.E150K Missense 4/18 - 1
16-3736021-G-A c.447C>T p.A149= Synonymous 4/18 - 1
16-3736021-G-C c.447C>G p.A149= Synonymous 4/18 - 1
16-3736021-G-T c.447C>A p.A149= Synonymous 4/18 - 1
16-3736027-G-A c.441C>T p.T147= Synonymous 4/18 - 1
16-3736027-G-C c.441C>G p.T147= Synonymous 4/18 - 1
16-3736027-G-T c.441C>A p.T147= Synonymous 4/18 - 1
16-3736030-C-A c.438G>T p.Q146H Missense 4/18 - 1
16-3736030-C-G c.438G>C p.Q146H Missense 4/18 - 1
16-3736032-G-C c.436C>G p.Q146E Missense 4/18 - 1
16-3736037-T-G c.431A>C p.H144P Missense 4/18 - 1
16-3736038-G-C c.430C>G p.H144D Missense 4/18 - 1
16-3736041-T-C c.427A>G p.I143V Missense 4/18 - 1
16-3736044-C-T c.424G>A p.E142K Missense 4/18 - 1
16-3736046-AT-GC c.421_422delinsGC p.M141A Missense 4/18 - 1
16-3736048-TTC-ACA c.418_420delinsTGT p.E140C Missense 4/18 - 2
16-3736053-G-A c.415C>T p.P139S Missense 4/18 - 3
16-3736059-C-T c.409G>A p.A137T Missense 4/18 - 1
16-3736061-T-A c.407A>T p.Q136L Missense 4/18 - 2
16-3736070-G-A c.398C>T p.S133F Missense 4/18 - 1
16-3736070-GA-CG c.397_398delinsCG p.S133R Missense 4/18 - 1
16-3736070-G-C c.398C>G p.S133C Missense 4/18 - 1
16-3736071-A-C c.397T>G p.S133A Missense 4/18 - 1
16-3736074-C-A c.394G>T p.V132L Missense 4/18 - 1
16-3736074-C-G c.394G>C p.V132L Missense 4/18 - 1
16-3736083-G-A c.385C>T p.H129Y Missense 4/18 - 3
16-3736084-A-C c.384T>G p.R128= Synonymous 4/18 - 1
16-3736084-A-G c.384T>C p.R128= Synonymous 4/18 - 1
16-3736084-A-T c.384T>A p.R128= Synonymous 4/18 - 1
16-3736085-C-A c.383G>T p.R128L Missense 4/18 - 1
16-3736085-C-T c.383G>A p.R128H Missense 4/18 - 18
16-3736086-G-A c.382C>T p.R128C Missense 4/18 - 3
16-3736089-G-C c.379C>G p.L127V Missense 4/18 - 1
16-3736095-C-T c.373G>A p.E125K Missense 4/18 - 1
16-3736100-G-A c.368C>T p.A123V Missense 4/18 - 1
16-3736106-C-A c.362G>T p.S121I Missense 4/18 - 1
16-3736107-T-C c.361A>G p.S121G Missense 4/18 - 1
16-3736110-C-A c.358G>T p.A120S Missense 4/18 - 1
16-3736113-T-C c.355A>G p.N119D Missense 4/18 - 1
16-3736119-T-A c.349A>T p.I117F Missense 4/18 - 1
16-3736120-TC-T c.348del p.I117Sfs*47 Frameshift 4/18 - 1
16-3736122-AG-A c.346del p.L116* Frameshift 4/18 - 1
16-3736124-T-G c.344A>C p.E115A Missense 4/18 - 2
16-3736127-C-T c.341G>A p.R114Q Missense 4/18 - 2
16-3736128-G-A c.340C>T p.R114W Missense 4/18 - 3
16-3736129-T-C c.339A>G p.I113M Missense 4/18 - 1
16-3736131-T-C c.337A>G p.I113V Missense 4/18 - 2
16-3736132-A-C c.336T>G p.F112L Missense 4/18 - 1
16-3736132-A-T c.336T>A p.F112L Missense 4/18 - 1
16-3736134-A-G c.334T>C p.F112L Missense 4/18 - 1
16-3736147-T-C c.331-10A>G - IntronicSNV - 3/17 2
16-3736147-T-G c.331-10A>C - IntronicSNV - 3/17 2
16-3737375-T-C c.331-1238A>G - IntronicSNV - 3/17 1
16-3738078-C-T c.330+978G>A - IntronicSNV - 3/17 1
16-3738286-G-T c.330+770C>A - IntronicSNV - 3/17 2
16-3738887-C-T c.330+169G>A - IntronicSNV - 3/17 3
16-3738957-C-T c.330+99G>A - IntronicSNV - 3/17 1
16-3738961-T-G c.330+95A>C - IntronicSNV - 3/17 5
16-3738998-A-G c.330+58T>C - IntronicSNV - 3/17 1
16-3739052-G-A c.330+4C>T - IntronicSNV - 3/17 1
16-3739059-T-A c.327A>T p.K109N Missense 3/18 - 1
16-3739059-T-G c.327A>C p.K109N Missense 3/18 - 1
16-3739065-T-A c.321A>T p.S107= Synonymous 3/18 - 1
16-3739065-T-C c.321A>G p.S107= Synonymous 3/18 - 1
16-3739065-T-G c.321A>C p.S107= Synonymous 3/18 - 1
16-3739069-T-C c.317A>G p.Y106C Missense 3/18 - 1
16-3739071-C-A c.315G>T p.L105= Synonymous 3/18 - 1
16-3739071-C-G c.315G>C p.L105= Synonymous 3/18 - 1
16-3739071-C-T c.315G>A p.L105= Synonymous 3/18 - 1
16-3739073-G-A c.313C>T p.L105= Synonymous 3/18 - 1
16-3739078-C-A c.308G>T p.R103L Missense 3/18 - 1
16-3739078-C-T c.308G>A p.R103Q Missense 3/18 - 1
16-3739081-G-A c.305C>T p.A102V Missense 3/18 - 1
16-3739082-C-A c.304G>T p.A102S Missense 3/18 - 1
16-3739091-C-A c.295G>T p.D99Y Missense 3/18 - 1
16-3739092-CA-AC c.293_294delinsGT p.L98C Missense 3/18 - 1
16-3739092-C-T c.294G>A p.L98= Synonymous 3/18 - 1
16-3739094-A-G c.292T>C p.L98= Synonymous 3/18 - 1
16-3739095-A-C c.291T>G p.L97= Synonymous 3/18 - 1
16-3739095-A-G c.291T>C p.L97= Synonymous 3/18 - 1
16-3739095-A-T c.291T>A p.L97= Synonymous 3/18 - 1
16-3739101-C-T c.285G>A p.K95= Synonymous 3/18 - 1
16-3739101-CTT-ACA c.283_285delinsTGT p.K95C Missense 3/18 - 1
16-3739102-T-G c.284A>C p.K95T Missense 3/18 - 1
16-3739103-T-C c.283A>G p.K95E Missense 3/18 - 1
16-3739104-T-A c.282A>T p.T94= Synonymous 3/18 - 1
16-3739104-T-C c.282A>G p.T94= Synonymous 3/18 - 1
16-3739104-T-G c.282A>C p.T94= Synonymous 3/18 - 1
16-3739105-G-A c.281C>T p.T94I Missense 3/18 - 1
16-3739106-T-C c.280A>G p.T94A Missense 3/18 - 1
16-3739107-C-A c.279G>T p.E93D Missense 3/18 - 1
16-3739107-C-G c.279G>C p.E93D Missense 3/18 - 1
16-3739109-C-T c.277G>A p.E93K Missense 3/18 - 1
16-3739110-G-A c.276C>T p.A92= Synonymous 3/18 - 1
16-3739110-G-C c.276C>G p.A92= Synonymous 3/18 - 1
16-3739110-G-T c.276C>A p.A92= Synonymous 3/18 - 1
16-3739116-G-A c.270C>T p.F90= Synonymous 3/18 - 3
16-3739119-C-T c.267G>A p.E89= Synonymous 3/18 - 2
16-3739121-C-G c.265G>C p.E89Q Missense 3/18 - 1
16-3739121-TCA-T c.264_265del p.H88Qfs*46 Frameshift 3/18 - 1
16-3739122-A-G c.264T>C p.H88= Synonymous 3/18 - 1
16-3739129-G-C c.257C>G p.S86C Missense 3/18 - 1
16-3739132-G-A c.254C>T p.T85I Missense 3/18 - 1
16-3739134-G-A c.252C>T p.S84= Synonymous 3/18 - 3
16-3739135-G-A c.251C>T p.S84F Missense 3/18 - 1
16-3739135-G-C c.251C>G p.S84C Missense 3/18 - 1
16-3739138-C-G c.248G>C p.G83A Missense 3/18 - 1
16-3739140-T-C c.248-2A>G - IntronicSNV - 2/17 1
16-3740015-CT-C c.247+812del - IntronicDeletion - 2/17 1
16-3740829-CCT-C c.245_246del p.Q82Rfs*7 SpliceDonorDeletion 2/18 - 1
16-3740831-G-T c.244C>A p.Q82K Missense 2/18 - 1
16-3740833-A-T c.242T>A p.V81E Missense 2/18 - 1
16-3740834-C-T c.241G>A p.V81M Missense 2/18 - 1
16-3740836-CT-AG c.238_239inv p.S80L Missense 2/18 - 1
16-3740838-C-A c.237G>T p.E79D Missense 2/18 - 1
16-3740838-C-G c.237G>C p.E79D Missense 2/18 - 1
16-3740840-C-T c.235G>A p.E79K Missense 2/18 - 1
16-3740841-T-A c.234A>T p.T78= Synonymous 2/18 - 1
16-3740841-T-C c.234A>G p.T78= Synonymous 2/18 - 1
16-3740841-T-G c.234A>C p.T78= Synonymous 2/18 - 1
16-3740843-T-C c.232A>G p.T78A Missense 2/18 - 1
16-3740845-C-T c.230G>A p.S77N Missense 2/18 - 1
16-3740856-CG-AT c.218_219delinsAT p.S73Y Missense 2/18 - 1
16-3740857-G-A c.218C>T p.S73L Missense 2/18 - 1
16-3740864-G-A c.211C>T p.L71= Synonymous 2/18 - 1
16-3740865-G-T c.210C>A p.P70= Synonymous 2/18 - 1
16-3740867-G-A c.208C>T p.P70S Missense 2/18 - 1
16-3740867-G-T c.208C>A p.P70T Missense 2/18 - 1
16-3740873-C-A c.202G>T p.E68* Nonsense 2/18 - 1
16-3740882-C-A c.193G>T p.E65* Nonsense 2/18 - 1
16-3740882-C-T c.193G>A p.E65K Missense 2/18 - 5
16-3740884-GC-AG c.190_191delinsCT p.A64L Missense 2/18 - 1
16-3740886-G-A c.189C>T p.T63= Synonymous 2/18 - 1
16-3740887-G-A c.188C>T p.T63I Missense 2/18 - 1
16-3740889-C-G c.186G>C p.Q62H Missense 2/18 - 1
16-3740891-G-C c.184C>G p.Q62E Missense 2/18 - 1
16-3740897-T-C c.178A>G p.S60G Missense 2/18 - 3
16-3740902-A-C c.173T>G p.L58R Missense 2/18 - 1
16-3740906-G-A c.169C>T p.R57* Nonsense 2/18 - 1
16-3740911-G-A c.164C>T p.A55V Missense 2/18 - 2
16-3740911-G-C c.164C>G p.A55G Missense 2/18 - 1
16-3740912-C-T c.163G>A p.A55T Missense 2/18 - 1
16-3740920-C-A c.155G>T p.S52I Missense 2/18 - 1
16-3740920-CT-GC c.154_155delinsGC p.S52A Missense 2/18 - 1
16-3740928-T-A c.147A>T p.P49= Synonymous 2/18 - 1
16-3740928-T-C c.147A>G p.P49= Synonymous 2/18 - 1
16-3740928-T-G c.147A>C p.P49= Synonymous 2/18 - 1
16-3740934-TC-AT c.140_141delinsAT p.R47H Missense 2/18 - 1
16-3740935-C-T c.140G>A p.R47Q Missense 2/18 - 3
16-3740934-T-A c.141A>T p.R47= Synonymous 2/18 - 1
16-3740934-T-C c.141A>G p.R47= Synonymous 2/18 - 1
16-3740934-T-G c.141A>C p.R47= Synonymous 2/18 - 1
16-3740936-G-A c.139C>T p.R47* Nonsense 2/18 - 5
16-3740936-G-T c.139C>A p.R47= Synonymous 2/18 - 1
16-3740938-CT-GC c.136_137delinsGC p.R46A Missense 2/18 - 1
16-3740938-CT-GG c.136_137delinsCC p.R46P Missense 2/18 - 1
16-3740940-G-T c.135C>A p.P45= Synonymous 2/18 - 1
16-3740944-C-T c.131G>A p.G44D Missense 2/18 - 1
16-3740949-C-G c.126G>C p.Q42H Missense 2/18 - 1
16-3740951-G-C c.124C>G p.Q42E Missense 2/18 - 1
16-3740953-G-A c.122C>T p.A41V Missense 2/18 - 2
16-3740953-GC-CG c.121_122delinsCG p.A41R Missense 2/18 - 1
16-3740954-C-T c.121G>A p.A41T Missense 2/18 - 2
16-3740955-T-TG c.119dup p.A41Sfs*49 Frameshift 2/18 - 1
16-3740957-GT-G c.118del p.T40Qfs*77 Frameshift 2/18 - 1
16-3740959-G-A c.116C>T p.T39I Missense 2/18 - 1
16-3740959-G-C c.116C>G p.T39S Missense 2/18 - 1
16-3740960-T-A c.115A>T p.T39S Missense 2/18 - 1
16-3740960-T-C c.115A>G p.T39A Missense 2/18 - 1
16-3740960-T-G c.115A>C p.T39P Missense 2/18 - 1
16-3740962-C-T c.113G>A p.R38K Missense 2/18 - 1
16-3740962-CT-TG c.112_113delinsCA p.R38Q Missense 2/18 - 1
16-3740966-G-A c.109C>T p.R37W Missense 2/18 - 2
16-3740971-CA-GT c.103_104delinsAC p.C35T Missense 2/18 - 1
16-3740971-C-T c.104G>A p.C35Y Missense 2/18 - 1
16-3740973-CAG-GAT c.100_102delinsATC p.L34I Missense 2/18 - 3
16-3740980-G-A c.95C>T p.P32L Missense 2/18 - 1
16-3740981-G-C c.94C>G p.P32A Missense 2/18 - 1
16-3740984-T-C c.91A>G p.K31E Missense 2/18 - 1
16-3741051-G-A c.89-65C>T - IntronicSNV - 1/17 1
16-3741122-C-T c.89-136G>A - IntronicSNV - 1/17 1
16-3742348-C-T c.89-1362G>A - IntronicSNV - 1/17 1
16-3744912-C-G c.89-3926G>C - IntronicSNV - 1/17 1
16-3745273-G-A c.89-4287C>T - IntronicSNV - 1/17 1
16-3745883-C-G c.89-4897G>C - IntronicSNV - 1/17 1
16-3746241-C-G c.89-5255G>C - IntronicSNV - 1/17 2
16-3746241-C-T c.89-5255G>A - IntronicSNV - 1/17 2
16-3747204-C-T c.89-6218G>A - IntronicSNV - 1/17 2
16-3748679-C-A c.89-7693G>T - IntronicSNV - 1/17 1
16-3748679-C-G c.89-7693G>C - IntronicSNV - 1/17 1
16-3748679-C-T c.89-7693G>A - IntronicSNV - 1/17 1
16-3748761-G-A c.89-7775C>T - IntronicSNV - 1/17 1
16-3749397-G-C c.89-8411C>G - IntronicSNV - 1/17 1
16-3753055-A-G c.89-12069T>C - IntronicSNV - 1/17 1
16-3760461-A-C c.88+6961T>G - IntronicSNV - 1/17 3
16-3760461-A-G c.88+6961T>C - IntronicSNV - 1/17 3
16-3761912-C-A c.88+5510G>T - IntronicSNV - 1/17 1
16-3765613-GA-G c.88+1808del - IntronicDeletion - 1/17 1
16-3767400-C-T c.88+22G>A - IntronicSNV - 1/17 1
16-3767428-G-A c.82C>T p.P28S Missense 1/18 - 1
16-3767430-A-G c.80T>C p.V27A Missense 1/18 - 1
16-3767433-G-A c.77C>T p.A26V Missense 1/18 - 1
16-3767433-G-C c.77C>G p.A26G Missense 1/18 - 2
16-3767435-CGC-AAA c.73_75delinsTTT p.A25F Missense 1/18 - 1
16-3767435-CG-GT c.74_75delinsAC p.A25D Missense 1/18 - 2
16-3767436-G-A c.74C>T p.A25V Missense 1/18 - 1
16-3767436-G-C c.74C>G p.A25G Missense 1/18 - 1
16-3767439-A-C c.71T>G p.L24R Missense 1/18 - 1
16-3767439-AG-GC c.70_71delinsGC p.L24A Missense 1/18 - 1
16-3767441-CGC-ATG c.67_69delinsCAT p.A23H Missense 1/18 - 1
16-3767442-G-A c.68C>T p.A23V Missense 1/18 - 1
16-3767443-C-T c.67G>A p.A23T Missense 1/18 - 1
16-3767447-C-A c.63G>T p.A21= Synonymous 1/18 - 2
16-3767447-C-G c.63G>C p.A21= Synonymous 1/18 - 2
16-3767447-C-T c.63G>A p.A21= Synonymous 1/18 - 2
16-3767448-GC-TG c.61_62delinsCA p.A21Q Missense 1/18 - 1
16-3767457-AA-GC c.52_53delinsGC p.L18A Missense 1/18 - 3
16-3767462-CCG-ACA c.46_48delinsTGT p.R16C Missense 1/18 - 1
16-3767466-A-C c.44T>G p.L15R Missense 1/18 - 1
16-3767466-AG-GC c.43_44delinsGC p.L15A Missense 1/18 - 1
16-3767473-G-A c.37C>T p.R13C Missense 1/18 - 3
16-3767475-C-A c.35G>T p.G12V Missense 1/18 - 2
16-3767475-C-T c.35G>A p.G12D Missense 1/18 - 2
16-3767476-C-G c.34G>C p.G12R Missense 1/18 - 1
16-3767480-CAG-GAT c.28_30delinsATC p.L10I Missense 1/18 - 1
16-3767481-AG-GC c.28_29delinsGC p.L10A Missense 1/18 - 1
16-3767482-G-C c.28C>G p.L10V Missense 1/18 - 1
16-3767484-A-G c.26T>C p.L9P Missense 1/18 - 1
16-3767490-G-A c.20C>T p.A7V Missense 1/18 - 2
16-3767506-C-A c.4G>T p.A2S Missense 1/18 - 1