TMEM131

TMEM131 transmembrane protein 131

Annotation transcript: NM_015348.2

1645 unique variant annotations were identified in 543 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
2-98372980-A-G c.*582T>C - 3-UTRSNV 41/41 - 3
2-98373006-C-T c.*556G>A - 3-UTRSNV 41/41 - 5
2-98373451-A-G c.*111T>C - 3-UTRSNV 41/41 - 1
2-98373526-C-T c.*36G>A - 3-UTRSNV 41/41 - 1
2-98373568-C-A c.5646G>T p.E1882D Missense 41/41 - 1
2-98373568-C-G c.5646G>C p.E1882D Missense 41/41 - 3
2-98373570-C-T c.5644G>A p.E1882K Missense 41/41 - 4
2-98373571-G-C c.5643C>G p.H1881Q Missense 41/41 - 1
2-98373571-G-T c.5643C>A p.H1881Q Missense 41/41 - 1
2-98373573-G-A c.5641C>T p.H1881Y Missense 41/41 - 1
2-98373575-G-A c.5639C>T p.P1880L Missense 41/41 - 1
2-98373575-G-T c.5639C>A p.P1880H Missense 41/41 - 1
2-98373576-G-A c.5638C>T p.P1880S Missense 41/41 - 1
2-98373581-T-C c.5633A>G p.H1878R Missense 41/41 - 1
2-98373583-C-A c.5631G>T p.S1877= Synonymous 41/41 - 4
2-98373583-C-G c.5631G>C p.S1877= Synonymous 41/41 - 3
2-98373583-C-T c.5631G>A p.S1877= Synonymous 41/41 - 4
2-98373584-G-A c.5630C>T p.S1877L Missense 41/41 - 7
2-98373592-C-T c.5622G>A p.W1874* Nonsense 41/41 - 1
2-98373593-C-T c.5621G>A p.W1874* Nonsense 41/41 - 1
2-98373597-G-A c.5617C>T p.P1873S Missense 41/41 - 1
2-98373599-T-G c.5615A>C p.D1872A Missense 41/41 - 1
2-98373600-C-A c.5614G>T p.D1872Y Missense 41/41 - 1
2-98373601-C-A c.5613G>T p.S1871= Synonymous 41/41 - 4
2-98373601-C-G c.5613G>C p.S1871= Synonymous 41/41 - 3
2-98373601-C-T c.5613G>A p.S1871= Synonymous 41/41 - 4
2-98373602-G-A c.5612C>T p.S1871L Missense 41/41 - 2
2-98373607-T-A c.5607A>T p.R1869S Missense 41/41 - 1
2-98373607-T-G c.5607A>C p.R1869S Missense 41/41 - 4
2-98373611-C-T c.5603G>A p.R1868K Missense 41/41 - 4
2-98373619-C-T c.5595G>A p.T1865= Synonymous 41/41 - 1
2-98373620-G-A c.5594C>T p.T1865M Missense 41/41 - 1
2-98373620-G-C c.5594C>G p.T1865R Missense 41/41 - 1
2-98373622-G-T c.5592C>A p.P1864= Synonymous 41/41 - 1
2-98373623-G-A c.5591C>T p.P1864L Missense 41/41 - 1
2-98373623-G-T c.5591C>A p.P1864H Missense 41/41 - 1
2-98373625-G-A c.5589C>T p.S1863= Synonymous 41/41 - 1
2-98373628-C-T c.5586G>A p.W1862* Nonsense 41/41 - 1
2-98373629-C-A c.5585G>T p.W1862L Missense 41/41 - 1
2-98373633-T-A c.5581A>T p.I1861L Missense 41/41 - 1
2-98373635-CG-GT c.5578_5579delinsAC p.R1860T Missense 41/41 - 1
2-98373635-C-T c.5579G>A p.R1860Q Missense 41/41 - 8
2-98373638-C-G c.5576G>C p.W1859S Missense 41/41 - 2
2-98373640-C-G c.5574G>C p.P1858= Synonymous 41/41 - 1
2-98373640-C-T c.5574G>A p.P1858= Synonymous 41/41 - 2
2-98373641-G-T c.5573C>A p.P1858Q Missense 41/41 - 1
2-98373649-G-C c.5565C>G p.T1855= Synonymous 41/41 - 1
2-98373650-G-A c.5564C>T p.T1855I Missense 41/41 - 1
2-98373651-T-C c.5563A>G p.T1855A Missense 41/41 - 1
2-98373655-TCC-GCT c.5557_5559delinsAGC p.G1853S Missense 41/41 - 1
2-98373663-C-A c.5551G>T p.D1851Y Missense 41/41 - 2
2-98373663-C-G c.5551G>C p.D1851H Missense 41/41 - 1
2-98373663-C-T c.5551G>A p.D1851N Missense 41/41 - 2
2-98373664-G-A c.5550C>T p.D1850= Synonymous 41/41 - 2
2-98373665-T-A c.5549A>T p.D1850V Missense 41/41 - 2
2-98373666-C-T c.5548G>A p.D1850N Missense 41/41 - 1
2-98373669-C-A c.5545G>T p.A1849S Missense 41/41 - 1
2-98373674-C-T c.5540G>A p.S1847N Missense 41/41 - 1
2-98373683-G-A c.5531C>T p.S1844F Missense 41/41 - 3
2-98373685-G-T c.5529C>A p.P1843= Synonymous 41/41 - 1
2-98373686-G-A c.5528C>T p.P1843L Missense 41/41 - 4
2-98373687-G-A c.5527C>T p.P1843S Missense 41/41 - 2
2-98373689-G-T c.5525C>A p.A1842D Missense 41/41 - 1
2-98373690-C-A c.5524G>T p.A1842S Missense 41/41 - 1
2-98373691-G-A c.5523C>T p.H1841= Synonymous 41/41 - 4
2-98373694-A-T c.5520T>A p.P1840= Synonymous 41/41 - 2
2-98373696-G-A c.5518C>T p.P1840S Missense 41/41 - 1
2-98373702-G-A c.5512C>T p.P1838S Missense 41/41 - 2
2-98373702-G-T c.5512C>A p.P1838T Missense 41/41 - 1
2-98373703-G-A c.5511C>T p.S1837= Synonymous 41/41 - 2
2-98373703-G-C c.5511C>G p.S1837= Synonymous 41/41 - 1
2-98373703-G-T c.5511C>A p.S1837= Synonymous 41/41 - 1
2-98373704-G-A c.5510C>T p.S1837F Missense 41/41 - 7
2-98373706-G-A c.5508C>T p.N1836= Synonymous 41/41 - 1
2-98373714-T-C c.5500A>G p.T1834A Missense 41/41 - 1
2-98373721-G-A c.5493C>T p.L1831= Synonymous 41/41 - 1
2-98373724-G-A c.5490C>T p.G1830= Synonymous 41/41 - 1
2-98373724-G-C c.5490C>G p.G1830= Synonymous 41/41 - 1
2-98373724-G-T c.5490C>A p.G1830= Synonymous 41/41 - 1
2-98373726-C-T c.5488G>A p.G1830S Missense 41/41 - 1
2-98373739-C-A c.5475G>T p.T1825= Synonymous 41/41 - 3
2-98373739-C-G c.5475G>C p.T1825= Synonymous 41/41 - 3
2-98373739-C-T c.5475G>A p.T1825= Synonymous 41/41 - 4
2-98373741-T-C c.5473A>G p.T1825A Missense 41/41 - 1
2-98373743-T-C c.5471A>G p.N1824S Missense 41/41 - 1
2-98373747-C-T c.5467G>A p.A1823T Missense 41/41 - 1
2-98373752-G-C c.5462C>G p.T1821S Missense 41/41 - 2
2-98373753-T-A c.5461A>T p.T1821S Missense 41/41 - 1
2-98373756-T-A c.5458A>T p.T1820S Missense 41/41 - 1
2-98373762-G-A c.5452C>T p.P1818S Missense 41/41 - 1
2-98373767-G-A c.5447C>T p.A1816V Missense 41/41 - 1
2-98373768-C-T c.5446G>A p.A1816T Missense 41/41 - 3
2-98373769-G-A c.5445C>T p.S1815= Synonymous 41/41 - 1
2-98373788-C-T c.5426G>A p.W1809* Nonsense 41/41 - 1
2-98373796-G-C c.5418C>G p.S1806R Missense 41/41 - 1
2-98373796-G-T c.5418C>A p.S1806R Missense 41/41 - 1
2-98373798-T-G c.5416A>C p.S1806R Missense 41/41 - 1
2-98373810-T-C c.5404A>G p.T1802A Missense 41/41 - 1
2-98373814-G-A c.5400C>T p.S1800= Synonymous 41/41 - 3
2-98373817-C-T c.5397G>A p.W1799* Nonsense 41/41 - 1
2-98373818-C-T c.5396G>A p.W1799* Nonsense 41/41 - 1
2-98373825-C-T c.5389G>A p.G1797S Missense 41/41 - 3
2-98373837-C-T c.5377G>A p.G1793S Missense 41/41 - 1
2-98373841-G-A c.5373C>T p.V1791= Synonymous 41/41 - 1
2-98373841-GA-CT c.5372_5373delinsAG p.V1791E Missense 41/41 - 1
2-98373842-A-T c.5372T>A p.V1791D Missense 41/41 - 8
2-98373844-C-T c.5370G>A p.S1790= Synonymous 41/41 - 1
2-98373850-C-T c.5368-4G>A - IntronicSNV - 40/40 1
2-98373865-C-T c.5368-19G>A - IntronicSNV - 40/40 2
2-98375357-G-A c.5366C>T p.T1789I Missense 40/41 - 5
2-98375358-T-C c.5365A>G p.T1789A Missense 40/41 - 1
2-98375377-G-A c.5346C>T p.G1782= Synonymous 40/41 - 1
2-98375377-G-C c.5346C>G p.G1782= Synonymous 40/41 - 1
2-98375377-G-T c.5346C>A p.G1782= Synonymous 40/41 - 1
2-98375381-G-A c.5342C>T p.S1781F Missense 40/41 - 3
2-98375392-C-A c.5331G>T p.W1777C Missense 40/41 - 2
2-98375392-C-G c.5331G>C p.W1777C Missense 40/41 - 1
2-98375393-C-A c.5330G>T p.W1777L Missense 40/41 - 2
2-98375400-G-A c.5323C>T p.P1775S Missense 40/41 - 2
2-98375405-G-T c.5318C>A p.P1773H Missense 40/41 - 1
2-98375411-G-A c.5312C>T p.T1771I Missense 40/41 - 1
2-98375414-G-A c.5309C>T p.A1770V Missense 40/41 - 4
2-98375417-G-T c.5306C>A p.P1769Q Missense 40/41 - 3
2-98375419-C-T c.5304G>A p.S1768= Synonymous 40/41 - 2
2-98375420-G-A c.5303C>T p.S1768L Missense 40/41 - 2
2-98375426-C-T c.5297G>A p.W1766* Nonsense 40/41 - 1
2-98375430-G-A c.5293C>T p.L1765F Missense 40/41 - 1
2-98375435-G-A c.5288C>T p.S1763L Missense 40/41 - 1
2-98375450-A-T c.5273T>A p.F1758Y Missense 40/41 - 1
2-98375449-A-C c.5274T>G p.F1758L Missense 40/41 - 2
2-98375449-A-T c.5274T>A p.F1758L Missense 40/41 - 2
2-98375451-A-G c.5272T>C p.F1758L Missense 40/41 - 2
2-98375452-C-A c.5271G>T p.E1757D Missense 40/41 - 1
2-98375452-C-G c.5271G>C p.E1757D Missense 40/41 - 1
2-98375456-T-C c.5267A>G p.N1756S Missense 40/41 - 1
2-98375461-G-A c.5262C>T p.S1754= Synonymous 40/41 - 1
2-98375464-C-T c.5259G>A p.R1753= Synonymous 40/41 - 2
2-98375466-T-G c.5257A>C p.R1753= Synonymous 40/41 - 2
2-98375478-G-A c.5245C>T p.Q1749* Nonsense 40/41 - 2
2-98375483-C-T c.5240G>A p.C1747Y Missense 40/41 - 1
2-98375485-C-T c.5238G>A p.S1746= Synonymous 40/41 - 3
2-98375486-G-A c.5237C>T p.S1746L Missense 40/41 - 10
2-98375489-C-A c.5234G>T p.R1745L Missense 40/41 - 1
2-98375490-G-A c.5233C>T p.R1745* Nonsense 40/41 - 2
2-98375499-C-G c.5224G>C p.G1742R Missense 40/41 - 1
2-98375499-C-T c.5224G>A p.G1742R Missense 40/41 - 1
2-98375500-G-A c.5223C>T p.L1741= Synonymous 40/41 - 4
2-98375500-G-C c.5223C>G p.L1741= Synonymous 40/41 - 2
2-98375500-G-T c.5223C>A p.L1741= Synonymous 40/41 - 2
2-98375509-G-A c.5214C>T p.F1738= Synonymous 40/41 - 1
2-98375722-A-G c.5207-206T>C - IntronicSNV - 39/40 1
2-98376131-A-C c.5190T>G p.S1730= Synonymous 39/41 - 1
2-98376131-A-G c.5190T>C p.S1730= Synonymous 39/41 - 1
2-98376131-A-T c.5190T>A p.S1730= Synonymous 39/41 - 2
2-98376138-C-T c.5183G>A p.G1728E Missense 39/41 - 1
2-98376145-C-T c.5176G>A p.A1726T Missense 39/41 - 2
2-98376153-G-A c.5168C>T p.S1723L Missense 39/41 - 2
2-98376160-G-A c.5161C>T p.L1721F Missense 39/41 - 1
2-98376167-G-A c.5154C>T p.F1718= Synonymous 39/41 - 1
2-98376170-G-C c.5151C>G p.D1717E Missense 39/41 - 1
2-98376171-T-A c.5150A>T p.D1717V Missense 39/41 - 1
2-98376172-C-T c.5149G>A p.D1717N Missense 39/41 - 2
2-98376175-G-A c.5146C>T p.P1716S Missense 39/41 - 1
2-98376177-C-A c.5144G>T p.S1715I Missense 39/41 - 1
2-98376193-C-T c.5128G>A p.V1710I Missense 39/41 - 2
2-98376194-G-A c.5127C>T p.P1709= Synonymous 39/41 - 2
2-98376196-G-T c.5125C>A p.P1709T Missense 39/41 - 1
2-98376198-C-T c.5123G>A p.S1708N Missense 39/41 - 1
2-98376201-CA-GC c.5119_5120delinsGC p.W1707A Missense 39/41 - 1
2-98376207-C-G c.5114G>C p.G1705A Missense 39/41 - 1
2-98376209-C-A c.5112G>T p.S1704= Synonymous 39/41 - 1
2-98376209-C-G c.5112G>C p.S1704= Synonymous 39/41 - 2
2-98376209-C-T c.5112G>A p.S1704= Synonymous 39/41 - 2
2-98376210-G-A c.5111C>T p.S1704L Missense 39/41 - 2
2-98376989-TA-T c.5108+66del - IntronicDeletion - 38/40 2
2-98377060-C-T c.5104G>A p.D1702N Missense 38/41 - 1
2-98377065-C-A c.5099G>T p.G1700V Missense 38/41 - 1
2-98377066-C-G c.5098G>C p.G1700R Missense 38/41 - 1
2-98377066-C-T c.5098G>A p.G1700S Missense 38/41 - 1
2-98377068-T-C c.5096A>G p.D1699G Missense 38/41 - 1
2-98377069-C-A c.5095G>T p.D1699Y Missense 38/41 - 1
2-98377069-C-T c.5095G>A p.D1699N Missense 38/41 - 1
2-98377070-G-A c.5094C>T p.S1698= Synonymous 38/41 - 3
2-98377071-C-A c.5093G>T p.S1698I Missense 38/41 - 1
2-98377071-C-T c.5093G>A p.S1698N Missense 38/41 - 1
2-98377084-C-T c.5080G>A p.A1694T Missense 38/41 - 4
2-98377089-G-A c.5075C>T p.S1692L Missense 38/41 - 1
2-98377093-T-C c.5071A>G p.I1691V Missense 38/41 - 1
2-98377095-C-T c.5069G>A p.G1690D Missense 38/41 - 4
2-98377121-G-C c.5043C>G p.N1681K Missense 38/41 - 2
2-98377121-G-T c.5043C>A p.N1681K Missense 38/41 - 3
2-98377127-AG-CC c.5036_5037delinsGG p.S1679W Missense 38/41 - 1
2-98377132-C-T c.5032G>A p.V1678I Missense 38/41 - 1
2-98377144-C-T c.5020G>A p.G1674S Missense 38/41 - 1
2-98377151-A-G c.5013T>C p.G1671= Synonymous 38/41 - 1
2-98377152-C-T c.5012G>A p.G1671D Missense 38/41 - 1
2-98377225-C-T c.5011+31G>A - IntronicSNV - 37/40 1
2-98377260-G-A c.5007C>T p.S1669= Synonymous 37/41 - 1
2-98377264-T-C c.5003A>G p.K1668R Missense 37/41 - 1
2-98377265-T-C c.5002A>G p.K1668E Missense 37/41 - 1
2-98377267-T-C c.5000A>G p.D1667G Missense 37/41 - 1
2-98377268-C-T c.4999G>A p.D1667N Missense 37/41 - 2
2-98377269-G-A c.4998C>T p.Y1666= Synonymous 37/41 - 3
2-98377277-C-T c.4990G>A p.A1664T Missense 37/41 - 1
2-98377278-C-T c.4989G>A p.T1663= Synonymous 37/41 - 1
2-98377286-C-T c.4981G>A p.A1661T Missense 37/41 - 1
2-98377288-G-T c.4979C>A p.A1660D Missense 37/41 - 2
2-98377297-G-A c.4970C>T p.P1657L Missense 37/41 - 2
2-98377303-C-T c.4964G>A p.G1655D Missense 37/41 - 1
2-98377305-G-A c.4962C>T p.N1654= Synonymous 37/41 - 1
2-98377308-C-A c.4959G>T p.K1653N Missense 37/41 - 1
2-98377308-C-G c.4959G>C p.K1653N Missense 37/41 - 2
2-98377312-C-A c.4955G>T p.G1652V Missense 37/41 - 1
2-98377312-CC-TT c.4954_4955delinsAA p.G1652N Missense 37/41 - 2
2-98377312-C-T c.4955G>A p.G1652D Missense 37/41 - 4
2-98377313-C-A c.4954G>T p.G1652C Missense 37/41 - 4
2-98377313-C-G c.4954G>C p.G1652R Missense 37/41 - 1
2-98377313-C-T c.4954G>A p.G1652S Missense 37/41 - 2
2-98377315-G-A c.4952C>T p.P1651L Missense 37/41 - 1
2-98377314-CG-C c.4952del p.P1651Rfs*83 Frameshift 37/41 - 1
2-98377320-C-A c.4947G>T p.S1649= Synonymous 37/41 - 4
2-98377320-C-G c.4947G>C p.S1649= Synonymous 37/41 - 3
2-98377320-C-T c.4947G>A p.S1649= Synonymous 37/41 - 3
2-98377323-G-A c.4944C>T p.A1648= Synonymous 37/41 - 2
2-98377327-G-A c.4940C>T p.A1647V Missense 37/41 - 1
2-98377351-CC-AG c.4915_4916delinsCT p.G1639L Missense 37/41 - 1
2-98377352-C-A c.4915G>T p.G1639* Nonsense 37/41 - 1
2-98377366-A-T c.4901T>A p.I1634K Missense 37/41 - 1
2-98377367-T-C c.4900A>G p.I1634V Missense 37/41 - 1
2-98377368-T-C c.4899A>G p.K1633= Synonymous 37/41 - 1
2-98377512-A-T c.4890-135T>A - IntronicSNV - 36/40 4
2-98377665-G-A c.4890-288C>T - IntronicSNV - 36/40 1
2-98378505-A-G c.4882T>C p.S1628P Missense 36/41 - 1
2-98378515-G-A c.4872C>T p.V1624= Synonymous 36/41 - 1
2-98378517-C-G c.4870G>C p.V1624L Missense 36/41 - 1
2-98378522-C-A c.4865G>T p.S1622I Missense 36/41 - 1
2-98378532-T-TA c.4854_4855insT p.S1619* Nonsense 36/41 - 1
2-98378533-G-A c.4854C>T p.G1618= Synonymous 36/41 - 1
2-98378533-G-C c.4854C>G p.G1618= Synonymous 36/41 - 1
2-98378533-G-T c.4854C>A p.G1618= Synonymous 36/41 - 1
2-98378537-C-A c.4850G>T p.R1617L Missense 36/41 - 4
2-98378537-C-T c.4850G>A p.R1617Q Missense 36/41 - 2
2-98378538-G-C c.4849C>G p.R1617G Missense 36/41 - 1
2-98378543-A-C c.4844T>G p.V1615G Missense 36/41 - 1
2-98378545-A-T c.4842T>A p.F1614L Missense 36/41 - 1
2-98378546-A-T c.4841T>A p.F1614Y Missense 36/41 - 1
2-98378547-A-T c.4840T>A p.F1614I Missense 36/41 - 1
2-98378549-G-A c.4838C>T p.P1613L Missense 36/41 - 3
2-98378549-G-T c.4838C>A p.P1613H Missense 36/41 - 1
2-98378551-G-A c.4836C>T p.C1612= Synonymous 36/41 - 1
2-98378552-C-A c.4835G>T p.C1612F Missense 36/41 - 1
2-98378552-C-CG c.4834_4835insC p.C1612Sfs*20 Frameshift 36/41 - 1
2-98378553-A-C c.4834T>G p.C1612G Missense 36/41 - 1
2-98378553-CA-C c.4834del p.C1612Afs*23 Frameshift 36/41 - 1
2-98378554-G-A c.4833C>T p.P1611= Synonymous 36/41 - 1
2-98378553-A-AG c.4833dup p.C1612Lfs*20 Frameshift 36/41 - 1
2-98378566-G-A c.4821C>T p.P1607= Synonymous 36/41 - 2
2-98378567-G-A c.4820C>T p.P1607L Missense 36/41 - 1
2-98378568-G-A c.4819C>T p.P1607S Missense 36/41 - 2
2-98378568-G-C c.4819C>G p.P1607A Missense 36/41 - 2
2-98378568-G-T c.4819C>A p.P1607T Missense 36/41 - 1
2-98378572-C-A c.4815G>T p.P1605= Synonymous 36/41 - 1
2-98378572-C-G c.4815G>C p.P1605= Synonymous 36/41 - 1
2-98378572-C-T c.4815G>A p.P1605= Synonymous 36/41 - 3
2-98378573-G-A c.4814C>T p.P1605L Missense 36/41 - 4
2-98378574-G-A c.4813C>T p.P1605S Missense 36/41 - 7
2-98378576-G-C c.4811C>G p.S1604C Missense 36/41 - 1
2-98378587-C-T c.4800G>A p.P1600= Synonymous 36/41 - 1
2-98378588-G-A c.4799C>T p.P1600L Missense 36/41 - 1
2-98378589-G-A c.4798C>T p.P1600S Missense 36/41 - 1
2-98378600-C-T c.4787G>A p.R1596H Missense 36/41 - 1
2-98378607-T-G c.4780A>C p.K1594Q Missense 36/41 - 1
2-98378612-A-G c.4775T>C p.F1592S Missense 36/41 - 1
2-98378616-T-G c.4771A>C p.I1591L Missense 36/41 - 1
2-98378617-G-A c.4770C>T p.D1590= Synonymous 36/41 - 1
2-98378618-T-G c.4769A>C p.D1590A Missense 36/41 - 1
2-98378623-G-A c.4764C>T p.N1588= Synonymous 36/41 - 3
2-98378635-C-T c.4752G>A p.L1584= Synonymous 36/41 - 1
2-98378640-A-G c.4747T>C p.S1583P Missense 36/41 - 1
2-98378646-T-C c.4741A>G p.K1581E Missense 36/41 - 1
2-98378647-A-T c.4740T>A p.Y1580* Nonsense 36/41 - 1
2-98378657-T-A c.4730A>T p.D1577V Missense 36/41 - 1
2-98378657-T-G c.4730A>C p.D1577A Missense 36/41 - 1
2-98378659-A-C c.4728T>G p.T1576= Synonymous 36/41 - 1
2-98378662-A-C c.4725T>G p.S1575= Synonymous 36/41 - 1
2-98378662-A-G c.4725T>C p.S1575= Synonymous 36/41 - 1
2-98378662-A-T c.4725T>A p.S1575= Synonymous 36/41 - 1
2-98381168-T-C c.4723+1409A>G - IntronicSNV - 35/40 1
2-98382580-T-A c.4720A>T p.S1574C Missense 35/41 - 3
2-98382595-C-T c.4705G>A p.V1569I Missense 35/41 - 1
2-98382596-TG-T c.4703del p.P1568Qfs*26 Frameshift 35/41 - 1
2-98382600-A-T c.4700T>A p.V1567D Missense 35/41 - 5
2-98382601-C-T c.4699G>A p.V1567I Missense 35/41 - 1
2-98382603-G-A c.4697C>T p.S1566F Missense 35/41 - 2
2-98382608-C-T c.4692G>A p.W1564* Nonsense 35/41 - 1
2-98382609-C-A c.4691G>T p.W1564L Missense 35/41 - 1
2-98382609-CA-GC c.4690_4691delinsGC p.W1564A Missense 35/41 - 1
2-98382609-C-T c.4691G>A p.W1564* Nonsense 35/41 - 1
2-98382611-C-A c.4689G>T p.E1563D Missense 35/41 - 1
2-98382611-C-G c.4689G>C p.E1563D Missense 35/41 - 1
2-98382614-C-A c.4686G>T p.P1562= Synonymous 35/41 - 1
2-98382614-C-G c.4686G>C p.P1562= Synonymous 35/41 - 1
2-98382614-C-T c.4686G>A p.P1562= Synonymous 35/41 - 3
2-98382619-G-A c.4681C>T p.P1561S Missense 35/41 - 1
2-98382625-A-T c.4675T>A p.S1559T Missense 35/41 - 1
2-98382628-C-A c.4672G>T p.D1558Y Missense 35/41 - 1
2-98382631-T-G c.4669A>C p.K1557Q Missense 35/41 - 1
2-98382638-C-A c.4662G>T p.E1554D Missense 35/41 - 1
2-98382638-C-G c.4662G>C p.E1554D Missense 35/41 - 1
2-98382653-G-A c.4647C>T p.N1549= Synonymous 35/41 - 2
2-98382654-T-C c.4646A>G p.N1549S Missense 35/41 - 1
2-98382674-C-T c.4626G>A p.P1542= Synonymous 35/41 - 1
2-98382680-G-A c.4620C>T p.F1540= Synonymous 35/41 - 2
2-98382692-G-A c.4608C>T p.A1536= Synonymous 35/41 - 1
2-98382692-G-C c.4608C>G p.A1536= Synonymous 35/41 - 1
2-98382692-G-T c.4608C>A p.A1536= Synonymous 35/41 - 1
2-98382693-G-A c.4607C>T p.A1536V Missense 35/41 - 1
2-98382702-CT-GC c.4597_4598delinsGC p.R1533A Missense 35/41 - 1
2-98382886-G-A c.4573+55C>T - IntronicSNV - 34/40 5
2-98382950-T-C c.4564A>G p.K1522E Missense 34/41 - 2
2-98382951-C-A c.4563G>T p.Q1521H Missense 34/41 - 1
2-98382951-C-G c.4563G>C p.Q1521H Missense 34/41 - 1
2-98382955-G-C c.4559C>G p.A1520G Missense 34/41 - 1
2-98382961-C-T c.4553G>A p.R1518Q Missense 34/41 - 5
2-98382962-G-A c.4552C>T p.R1518* Nonsense 34/41 - 1
2-98382969-G-A c.4545C>T p.S1515= Synonymous 34/41 - 2
2-98382969-G-C c.4545C>G p.S1515= Synonymous 34/41 - 1
2-98382969-G-T c.4545C>A p.S1515= Synonymous 34/41 - 1
2-98382976-CT-GG c.4537_4538delinsCC p.S1513P Missense 34/41 - 1
2-98382984-T-A c.4530A>T p.A1510= Synonymous 34/41 - 2
2-98382984-T-C c.4530A>G p.A1510= Synonymous 34/41 - 2
2-98382984-T-G c.4530A>C p.A1510= Synonymous 34/41 - 2
2-98382985-G-A c.4529C>T p.A1510V Missense 34/41 - 3
2-98382988-G-C c.4526C>G p.T1509S Missense 34/41 - 1
2-98382989-T-A c.4525A>T p.T1509S Missense 34/41 - 1
2-98382991-G-C c.4523C>G p.P1508R Missense 34/41 - 4
2-98382998-G-A c.4516C>T p.P1506S Missense 34/41 - 6
2-98383006-C-T c.4508G>A p.S1503N Missense 34/41 - 4
2-98383009-G-A c.4505C>T p.P1502L Missense 34/41 - 1
2-98383009-G-T c.4505C>A p.P1502Q Missense 34/41 - 3
2-98383017-T-A c.4497A>T p.R1499S Missense 34/41 - 1
2-98383021-C-T c.4493G>A p.R1498H Missense 34/41 - 1
2-98383045-G-A c.4469C>T p.T1490I Missense 34/41 - 1
2-98383045-G-T c.4469C>A p.T1490N Missense 34/41 - 3
2-98383052-GTAGTTC-G c.4456_4461del p.E1486_L1487del InFrameDeletion 34/41 - 1
2-98384636-T-C c.4449-1571A>G - IntronicSNV - 33/40 1
2-98387094-TA-T c.4448+1665del - IntronicDeletion - 33/40 1
2-98387650-T-C c.4448+1110A>G - IntronicSNV - 33/40 1
2-98388277-C-T c.4448+483G>A - IntronicSNV - 33/40 1
2-98388775-G-T c.4433C>A p.T1478K Missense 33/41 - 2
2-98388779-G-A c.4429C>T p.P1477S Missense 33/41 - 2
2-98388780-G-A c.4428C>T p.I1476= Synonymous 33/41 - 1
2-98388785-C-T c.4423G>A p.E1475K Missense 33/41 - 1
2-98388789-C-T c.4419G>A p.K1473= Synonymous 33/41 - 1
2-98388801-G-A c.4407C>T p.L1469= Synonymous 33/41 - 3
2-98388801-G-C c.4407C>G p.L1469= Synonymous 33/41 - 2
2-98388801-G-T c.4407C>A p.L1469= Synonymous 33/41 - 2
2-98388805-T-A c.4403A>T p.K1468I Missense 33/41 - 1
2-98388805-T-G c.4403A>C p.K1468T Missense 33/41 - 1
2-98388803-G-GT c.4404dup p.L1469Tfs*5 Frameshift 33/41 - 3
2-98388811-C-T c.4397G>A p.S1466N Missense 33/41 - 1
2-98388812-T-TA c.4395_4396insT p.S1466* Nonsense 33/41 - 1
2-98388811-C-CT c.4396dup p.S1466Kfs*8 Frameshift 33/41 - 1
2-98388818-G-T c.4390C>A p.Q1464K Missense 33/41 - 2
2-98388837-ACT-TCA c.4369_4371delinsTGA p.S1457* Nonsense 33/41 - 1
2-98388870-C-T c.4338G>A p.K1446= Synonymous 33/41 - 1
2-98388876-C-A c.4332G>T p.K1444N Missense 33/41 - 1
2-98388876-C-G c.4332G>C p.K1444N Missense 33/41 - 1
2-98392296-C-A c.4320+10G>T - IntronicSNV - 32/40 1
2-98392296-C-T c.4320+10G>A - IntronicSNV - 32/40 1
2-98392302-G-A c.4320+4C>T - IntronicSNV - 32/40 2
2-98392309-C-T c.4317G>A p.K1439= Synonymous 32/41 - 1
2-98392311-T-A c.4315A>T p.K1439* Nonsense 32/41 - 2
2-98392311-T-G c.4315A>C p.K1439Q Missense 32/41 - 2
2-98392319-G-A c.4307C>T p.P1436L Missense 32/41 - 1
2-98392320-G-C c.4306C>G p.P1436A Missense 32/41 - 1
2-98392321-T-G c.4305A>C p.E1435D Missense 32/41 - 1
2-98392323-C-G c.4303G>C p.E1435Q Missense 32/41 - 1
2-98392323-C-T c.4303G>A p.E1435K Missense 32/41 - 1
2-98392338-A-T c.4288T>A p.S1430T Missense 32/41 - 1
2-98392340-G-A c.4286C>T p.T1429I Missense 32/41 - 2
2-98392342-C-A c.4284G>T p.E1428D Missense 32/41 - 4
2-98392342-C-G c.4284G>C p.E1428D Missense 32/41 - 3
2-98392346-G-A c.4280C>T p.T1427I Missense 32/41 - 1
2-98392349-G-A c.4277C>T p.T1426I Missense 32/41 - 1
2-98392351-G-A c.4275C>T p.T1425= Synonymous 32/41 - 3
2-98392353-T-A c.4273A>T p.T1425S Missense 32/41 - 1
2-98392355-G-A c.4271C>T p.S1424F Missense 32/41 - 1
2-98392360-G-A c.4266C>T p.S1422= Synonymous 32/41 - 1
2-98392360-G-C c.4266C>G p.S1422R Missense 32/41 - 3
2-98392360-G-T c.4266C>A p.S1422R Missense 32/41 - 3
2-98392361-C-T c.4265G>A p.S1422N Missense 32/41 - 1
2-98392362-T-G c.4264A>C p.S1422R Missense 32/41 - 4
2-98392367-T-A c.4259A>T p.D1420V Missense 32/41 - 1
2-98392371-C-A c.4255G>T p.D1419Y Missense 32/41 - 1
2-98392374-C-T c.4252G>A p.A1418T Missense 32/41 - 1
2-98392382-T-C c.4244A>G p.D1415G Missense 32/41 - 3
2-98392389-G-A c.4237C>T p.L1413= Synonymous 32/41 - 1
2-98392392-C-T c.4234G>A p.E1412K Missense 32/41 - 2
2-98392393-A-C c.4233T>G p.D1411E Missense 32/41 - 1
2-98392399-C-T c.4227G>A p.Q1409= Synonymous 32/41 - 1
2-98392415-C-A c.4211G>T p.G1404V Missense 32/41 - 1
2-98392423-C-T c.4203G>A p.E1401= Synonymous 32/41 - 1
2-98392426-C-A c.4200G>T p.K1400N Missense 32/41 - 1
2-98392426-CCTT-C c.4198_4200del p.K1400del InFrameDeletion 32/41 - 1
2-98392426-C-G c.4200G>C p.K1400N Missense 32/41 - 1
2-98392436-T-G c.4190A>C p.Q1397P Missense 32/41 - 1
2-98392437-G-T c.4189C>A p.Q1397K Missense 32/41 - 1
2-98392446-G-A c.4180C>T p.P1394S Missense 32/41 - 4
2-98392448-G-A c.4178C>T p.P1393L Missense 32/41 - 3
2-98392449-G-A c.4177C>T p.P1393S Missense 32/41 - 1
2-98392455-C-A c.4171G>T p.V1391L Missense 32/41 - 2
2-98392459-GCG-CCA c.4165_4167delinsTGG p.R1389W Missense 32/41 - 1
2-98392461-G-A c.4165C>T p.R1389C Missense 32/41 - 1
2-98392463-T-C c.4163A>G p.Q1388R Missense 32/41 - 1
2-98392471-T-A c.4155A>T p.K1385N Missense 32/41 - 1
2-98392471-T-C c.4155A>G p.K1385= Synonymous 32/41 - 3
2-98392471-T-G c.4155A>C p.K1385N Missense 32/41 - 1
2-98392472-T-C c.4154A>G p.K1385R Missense 32/41 - 1
2-98392473-T-C c.4153A>G p.K1385E Missense 32/41 - 1
2-98392470-GT-G c.4155del p.K1385Nfs*7 Frameshift 32/41 - 1
2-98392478-T-C c.4148A>G p.K1383R Missense 32/41 - 2
2-98394680-G-A c.4145-2199C>T - IntronicSNV - 31/40 1
2-98402753-T-A c.4144+6096A>T - IntronicSNV - 31/40 1
2-98404166-C-T c.4144+4683G>A - IntronicSNV - 31/40 1
2-98406540-GA-G c.4144+2308del - IntronicDeletion - 31/40 1
2-98408868-C-A c.4125G>T p.S1375= Synonymous 31/41 - 3
2-98408868-C-G c.4125G>C p.S1375= Synonymous 31/41 - 2
2-98408868-C-T c.4125G>A p.S1375= Synonymous 31/41 - 2
2-98408872-G-A c.4121C>T p.P1374L Missense 31/41 - 2
2-98408877-C-T c.4116G>A p.Q1372= Synonymous 31/41 - 1
2-98408882-C-G c.4111G>C p.E1371Q Missense 31/41 - 1
2-98408890-A-G c.4103T>C p.V1368A Missense 31/41 - 1
2-98408897-G-A c.4096C>T p.L1366= Synonymous 31/41 - 3
2-98408900-C-A c.4093G>T p.A1365S Missense 31/41 - 1
2-98408900-C-T c.4093G>A p.A1365T Missense 31/41 - 1
2-98408902-G-A c.4091C>T p.P1364L Missense 31/41 - 1
2-98408904-G-A c.4089C>T p.S1363= Synonymous 31/41 - 1
2-98408904-G-C c.4089C>G p.S1363= Synonymous 31/41 - 1
2-98408904-G-T c.4089C>A p.S1363= Synonymous 31/41 - 1
2-98408913-G-T c.4080C>A p.H1360Q Missense 31/41 - 1
2-98408914-T-C c.4079A>G p.H1360R Missense 31/41 - 2
2-98408914-T-G c.4079A>C p.H1360P Missense 31/41 - 1
2-98408918-C-T c.4075G>A p.D1359N Missense 31/41 - 12
2-98408924-C-G c.4069G>C p.D1357H Missense 31/41 - 2
2-98408941-A-G c.4052T>C p.I1351T Missense 31/41 - 1
2-98408942-T-C c.4051A>G p.I1351V Missense 31/41 - 1
2-98408950-G-A c.4043C>T p.T1348I Missense 31/41 - 1
2-98408957-C-T c.4036G>A p.D1346N Missense 31/41 - 1
2-98408958-C-A c.4035G>T p.S1345= Synonymous 31/41 - 2
2-98408958-C-G c.4035G>C p.S1345= Synonymous 31/41 - 2
2-98408958-C-T c.4035G>A p.S1345= Synonymous 31/41 - 2
2-98408964-C-A c.4029G>T p.E1343D Missense 31/41 - 1
2-98408964-C-G c.4029G>C p.E1343D Missense 31/41 - 1
2-98408967-G-A c.4026C>T p.S1342= Synonymous 31/41 - 2
2-98408967-G-C c.4026C>G p.S1342= Synonymous 31/41 - 2
2-98408967-G-T c.4026C>A p.S1342= Synonymous 31/41 - 1
2-98408972-T-A c.4021A>T p.S1341C Missense 31/41 - 1
2-98408974-T-C c.4019A>G p.H1340R Missense 31/41 - 1
2-98408979-C-A c.4014G>T p.A1338= Synonymous 31/41 - 4
2-98408979-C-G c.4014G>C p.A1338= Synonymous 31/41 - 4
2-98408979-C-T c.4014G>A p.A1338= Synonymous 31/41 - 5
2-98408992-C-G c.4001G>C p.R1334P Missense 31/41 - 1
2-98408993-G-A c.4000C>T p.R1334C Missense 31/41 - 4
2-98408996-C-T c.3997G>A p.E1333K Missense 31/41 - 2
2-98409000-G-A c.3993C>T p.H1331= Synonymous 31/41 - 3
2-98409002-G-A c.3991C>T p.H1331Y Missense 31/41 - 4
2-98409003-G-A c.3990C>T p.S1330= Synonymous 31/41 - 3
2-98409003-G-C c.3990C>G p.S1330= Synonymous 31/41 - 1
2-98409004-G-A c.3989C>T p.S1330F Missense 31/41 - 6
2-98409007-G-T c.3986C>A p.P1329H Missense 31/41 - 1
2-98409010-T-G c.3983A>C p.H1328P Missense 31/41 - 1
2-98409011-G-T c.3982C>A p.H1328N Missense 31/41 - 1
2-98409012-T-A c.3981A>T p.A1327= Synonymous 31/41 - 1
2-98409012-T-C c.3981A>G p.A1327= Synonymous 31/41 - 1
2-98409012-T-G c.3981A>C p.A1327= Synonymous 31/41 - 1
2-98409014-C-T c.3979G>A p.A1327T Missense 31/41 - 2
2-98409016-A-AG c.3976dup p.L1326Pfs*37 Frameshift 31/41 - 1
2-98409023-C-A c.3970G>T p.A1324S Missense 31/41 - 1
2-98409023-C-T c.3970G>A p.A1324T Missense 31/41 - 3
2-98409024-G-A c.3969C>T p.P1323= Synonymous 31/41 - 1
2-98409025-G-A c.3968C>T p.P1323L Missense 31/41 - 2
2-98409026-G-A c.3967C>T p.P1323S Missense 31/41 - 2
2-98409027-A-C c.3966T>G p.S1322= Synonymous 31/41 - 1
2-98409027-A-G c.3966T>C p.S1322= Synonymous 31/41 - 1
2-98409027-A-T c.3966T>A p.S1322= Synonymous 31/41 - 1
2-98409033-CCT-ACA c.3958_3960delinsTGT p.R1320C Missense 31/41 - 1
2-98409034-C-T c.3959G>A p.R1320K Missense 31/41 - 1
2-98409038-C-A c.3955G>T p.E1319* Nonsense 31/41 - 7
2-98409038-C-G c.3955G>C p.E1319Q Missense 31/41 - 10
2-98409038-C-T c.3955G>A p.E1319K Missense 31/41 - 7
2-98409040-G-A c.3953C>T p.P1318L Missense 31/41 - 1
2-98409040-GG-AA c.3952_3953delinsTT p.P1318F Missense 31/41 - 1
2-98409043-T-A c.3950A>T p.Q1317L Missense 31/41 - 1
2-98409046-G-A c.3947C>T p.P1316L Missense 31/41 - 21
2-98409066-T-A c.3927A>T p.P1309= Synonymous 31/41 - 3
2-98409066-T-C c.3927A>G p.P1309= Synonymous 31/41 - 3
2-98409066-T-G c.3927A>C p.P1309= Synonymous 31/41 - 3
2-98409067-G-A c.3926C>T p.P1309L Missense 31/41 - 2
2-98409092-G-A c.3901C>T p.H1301Y Missense 31/41 - 1
2-98409092-G-T c.3901C>A p.H1301N Missense 31/41 - 1
2-98409098-C-G c.3895G>C p.E1299Q Missense 31/41 - 1
2-98409099-C-A c.3894G>T p.L1298= Synonymous 31/41 - 1
2-98409099-C-G c.3894G>C p.L1298= Synonymous 31/41 - 1
2-98409099-C-T c.3894G>A p.L1298= Synonymous 31/41 - 1
2-98409101-G-A c.3892C>T p.L1298= Synonymous 31/41 - 1
2-98409103-G-A c.3890C>T p.P1297L Missense 31/41 - 2
2-98409103-G-T c.3890C>A p.P1297Q Missense 31/41 - 1
2-98409102-C-CG c.3890dup p.L1298Afs*22 Frameshift 31/41 - 1
2-98409110-G-A c.3883C>T p.H1295Y Missense 31/41 - 1
2-98409118-T-C c.3875A>G p.H1292R Missense 31/41 - 2
2-98409136-C-T c.3857G>A p.S1286N Missense 31/41 - 1
2-98409148-C-T c.3845G>A p.G1282E Missense 31/41 - 1
2-98409154-G-A c.3839C>T p.S1280F Missense 31/41 - 1
2-98409155-A-C c.3838T>G p.S1280A Missense 31/41 - 3
2-98409162-G-A c.3831C>T p.G1277= Synonymous 31/41 - 1
2-98409162-G-C c.3831C>G p.G1277= Synonymous 31/41 - 1
2-98409162-G-T c.3831C>A p.G1277= Synonymous 31/41 - 1
2-98409166-G-A c.3827C>T p.A1276V Missense 31/41 - 3
2-98409167-C-T c.3826G>A p.A1276T Missense 31/41 - 1
2-98409173-G-A c.3820C>T p.H1274Y Missense 31/41 - 1
2-98409175-C-T c.3818G>A p.G1273D Missense 31/41 - 1
2-98409176-C-A c.3817G>T p.G1273C Missense 31/41 - 1
2-98409193-G-A c.3800C>T p.S1267L Missense 31/41 - 5
2-98409195-A-C c.3798T>G p.D1266E Missense 31/41 - 1
2-98409195-A-T c.3798T>A p.D1266E Missense 31/41 - 1
2-98409210-G-A c.3783C>T p.S1261= Synonymous 31/41 - 1
2-98409220-T-C c.3773A>G p.N1258S Missense 31/41 - 6
2-98409226-G-C c.3767C>G p.S1256C Missense 31/41 - 3
2-98409242-C-A c.3751G>T p.A1251S Missense 31/41 - 1
2-98409247-G-T c.3746C>A p.A1249D Missense 31/41 - 1
2-98409253-G-A c.3740C>T p.T1247I Missense 31/41 - 1
2-98409257-T-C c.3736A>G p.R1246G Missense 31/41 - 1
2-98409262-G-A c.3731C>T p.S1244F Missense 31/41 - 2
2-98409268-C-T c.3725G>A p.S1242N Missense 31/41 - 2
2-98409271-G-C c.3722C>G p.S1241* Nonsense 31/41 - 1
2-98409282-GG-CT c.3710_3711delinsAG p.A1237E Missense 31/41 - 1
2-98409286-C-A c.3707G>T p.R1236I Missense 31/41 - 1
2-98409288-G-A c.3705C>T p.V1235= Synonymous 31/41 - 1
2-98409290-C-T c.3703G>A p.V1235I Missense 31/41 - 1
2-98409291-G-A c.3702C>T p.N1234= Synonymous 31/41 - 1
2-98409296-C-T c.3697G>A p.E1233K Missense 31/41 - 4
2-98409299-C-T c.3694G>A p.V1232M Missense 31/41 - 6
2-98409313-C-A c.3680G>T p.R1227I Missense 31/41 - 2
2-98409313-CT-TG c.3679_3680delinsCA p.R1227Q Missense 31/41 - 1
2-98409319-C-G c.3674G>C p.S1225T Missense 31/41 - 1
2-98409325-C-T c.3668G>A p.S1223N Missense 31/41 - 1
2-98409328-C-A c.3665G>T p.S1222I Missense 31/41 - 1
2-98409330-G-A c.3663C>T p.H1221= Synonymous 31/41 - 1
2-98409335-G-A c.3658C>T p.P1220S Missense 31/41 - 2
2-98409338-G-A c.3655C>T p.H1219Y Missense 31/41 - 2
2-98409341-C-A c.3652G>T p.V1218F Missense 31/41 - 1
2-98409343-G-A c.3650C>T p.S1217L Missense 31/41 - 1
2-98409345-T-A c.3648A>T p.P1216= Synonymous 31/41 - 1
2-98409346-G-A c.3647C>T p.P1216L Missense 31/41 - 3
2-98409354-C-G c.3639G>C p.Q1213H Missense 31/41 - 1
2-98409358-T-G c.3635A>C p.K1212T Missense 31/41 - 1
2-98409359-T-C c.3634A>G p.K1212E Missense 31/41 - 1
2-98409372-A-G c.3621T>C p.S1207= Synonymous 31/41 - 1
2-98409373-C-T c.3620G>A p.S1207N Missense 31/41 - 1
2-98409375-G-A c.3618C>T p.P1206= Synonymous 31/41 - 1
2-98409376-G-C c.3617C>G p.P1206R Missense 31/41 - 6
2-98409376-G-T c.3617C>A p.P1206H Missense 31/41 - 1
2-98409379-C-T c.3614G>A p.R1205Q Missense 31/41 - 1
2-98409380-G-A c.3613C>T p.R1205* Nonsense 31/41 - 1
2-98409381-G-A c.3612C>T p.S1204= Synonymous 31/41 - 1
2-98409382-G-A c.3611C>T p.S1204F Missense 31/41 - 3
2-98409388-G-A c.3605C>T p.S1202L Missense 31/41 - 2
2-98409393-G-A c.3600C>T p.G1200= Synonymous 31/41 - 1
2-98409393-G-C c.3600C>G p.G1200= Synonymous 31/41 - 1
2-98409393-G-T c.3600C>A p.G1200= Synonymous 31/41 - 1
2-98409398-C-T c.3595G>A p.A1199T Missense 31/41 - 1
2-98409402-A-G c.3591T>C p.C1197= Synonymous 31/41 - 1
2-98409408-C-A c.3585G>T p.G1195= Synonymous 31/41 - 1
2-98409408-C-G c.3585G>C p.G1195= Synonymous 31/41 - 2
2-98409408-C-T c.3585G>A p.G1195= Synonymous 31/41 - 1
2-98409409-C-T c.3584G>A p.G1195E Missense 31/41 - 1
2-98409407-AC-A c.3585del p.F1196Sfs*70 Frameshift 31/41 - 1
2-98409415-C-T c.3578G>A p.S1193N Missense 31/41 - 1
2-98409416-T-A c.3577A>T p.S1193C Missense 31/41 - 3
2-98409421-C-A c.3572G>T p.G1191V Missense 31/41 - 1
2-98409421-C-T c.3572G>A p.G1191D Missense 31/41 - 2
2-98409422-C-T c.3571G>A p.G1191S Missense 31/41 - 1
2-98409424-G-A c.3569C>T p.P1190L Missense 31/41 - 1
2-98409565-T-C c.3546-118A>G - IntronicSNV - 30/40 2
2-98409820-T-C c.3545+38A>G - IntronicSNV - 30/40 1
2-98409856-A-T c.3545+2T>A - IntronicSNV - 30/40 1
2-98409861-C-T c.3542G>A p.G1181E Missense 30/41 - 1
2-98409870-G-A c.3533C>T p.S1178L Missense 30/41 - 1
2-98409874-T-C c.3529A>G p.I1177V Missense 30/41 - 3
2-98409885-C-A c.3518G>T p.R1173I Missense 30/41 - 3
2-98409886-T-C c.3517A>G p.R1173G Missense 30/41 - 1
2-98409888-C-A c.3515G>T p.R1172M Missense 30/41 - 2
2-98409886-TCCTGAGATCAAATGG-T c.3502_3516del p.P1168_R1172del InFrameDeletion 30/41 - 1
2-98409894-T-A c.3509A>T p.D1170V Missense 30/41 - 1
2-98409901-G-A c.3502C>T p.P1168S Missense 30/41 - 2
2-98409903-C-G c.3500G>C p.R1167T Missense 30/41 - 1
2-98409907-C-T c.3496G>A p.G1166R Missense 30/41 - 1
2-98409908-C-A c.3495G>T p.V1165= Synonymous 30/41 - 1
2-98409920-C-A c.3483G>T p.P1161= Synonymous 30/41 - 1
2-98409920-C-G c.3483G>C p.P1161= Synonymous 30/41 - 1
2-98409920-C-T c.3483G>A p.P1161= Synonymous 30/41 - 3
2-98409921-G-T c.3482C>A p.P1161Q Missense 30/41 - 1
2-98409923-G-C c.3480C>G p.N1160K Missense 30/41 - 1
2-98409923-G-T c.3480C>A p.N1160K Missense 30/41 - 1
2-98409926-C-A c.3477G>T p.S1159= Synonymous 30/41 - 1
2-98409926-C-G c.3477G>C p.S1159= Synonymous 30/41 - 1
2-98409926-C-T c.3477G>A p.S1159= Synonymous 30/41 - 2
2-98409938-G-A c.3465C>T p.S1155= Synonymous 30/41 - 1
2-98409938-G-C c.3465C>G p.S1155= Synonymous 30/41 - 1
2-98409938-G-T c.3465C>A p.S1155= Synonymous 30/41 - 1
2-98409939-G-A c.3464C>T p.S1155F Missense 30/41 - 3
2-98409945-C-T c.3458G>A p.R1153Q Missense 30/41 - 4
2-98409946-G-A c.3457C>T p.R1153W Missense 30/41 - 3
2-98409947-C-A c.3456G>T p.R1152S Missense 30/41 - 1
2-98409947-C-G c.3456G>C p.R1152S Missense 30/41 - 1
2-98409950-TCG-ACA c.3451_3453delinsTGT p.R1151C Missense 30/41 - 1
2-98409952-G-A c.3451C>T p.R1151* Nonsense 30/41 - 1
2-98409954-A-T c.3449T>A p.F1150Y Missense 30/41 - 1
2-98409957-G-A c.3446C>T p.P1149L Missense 30/41 - 1
2-98409962-C-T c.3441G>A p.W1147* Nonsense 30/41 - 1
2-98409963-C-T c.3440G>A p.W1147* Nonsense 30/41 - 1
2-98409966-A-G c.3437T>C p.I1146T Missense 30/41 - 1
2-98409979-C-T c.3424G>A p.E1142K Missense 30/41 - 2
2-98409990-G-T c.3413C>A p.T1138K Missense 30/41 - 1
2-98409996-A-G c.3407T>C p.I1136T Missense 30/41 - 1
2-98410003-A-G c.3400T>C p.L1134= Synonymous 30/41 - 1
2-98410005-A-G c.3398T>C p.L1133P Missense 30/41 - 1
2-98410005-AG-CT c.3397_3398inv p.L1133S Missense 30/41 - 1
2-98410006-G-T c.3397C>A p.L1133I Missense 30/41 - 1
2-98410010-C-A c.3393G>T p.L1131= Synonymous 30/41 - 1
2-98410010-C-G c.3393G>C p.L1131= Synonymous 30/41 - 1
2-98410010-C-T c.3393G>A p.L1131= Synonymous 30/41 - 1
2-98410012-G-A c.3391C>T p.L1131= Synonymous 30/41 - 1
2-98410035-T-A c.3387-19A>T - IntronicSNV - 29/40 1
2-98410035-T-C c.3387-19A>G - IntronicSNV - 29/40 1
2-98411393-CT-AG c.3385_3386inv p.S1129L Missense 29/41 - 1
2-98411397-T-A c.3382A>T p.M1128L Missense 29/41 - 1
2-98411397-T-G c.3382A>C p.M1128L Missense 29/41 - 1
2-98411399-A-G c.3380T>C p.I1127T Missense 29/41 - 1
2-98411409-T-C c.3370A>G p.I1124V Missense 29/41 - 1
2-98411412-T-C c.3367A>G p.I1123V Missense 29/41 - 2
2-98411424-C-T c.3355G>A p.A1119T Missense 29/41 - 1
2-98411434-G-C c.3345C>G p.N1115K Missense 29/41 - 1
2-98411434-G-T c.3345C>A p.N1115K Missense 29/41 - 1
2-98411436-T-C c.3343A>G p.N1115D Missense 29/41 - 1
2-98411438-G-A c.3341C>T p.P1114L Missense 29/41 - 3
2-98411444-G-C c.3335C>G p.P1112R Missense 29/41 - 1
2-98411449-G-A c.3330C>T p.A1110= Synonymous 29/41 - 1
2-98411449-G-C c.3330C>G p.A1110= Synonymous 29/41 - 1
2-98411449-G-T c.3330C>A p.A1110= Synonymous 29/41 - 1
2-98411450-G-A c.3329C>T p.A1110V Missense 29/41 - 5
2-98411451-C-G c.3328G>C p.A1110P Missense 29/41 - 1
2-98411457-C-A c.3322G>T p.A1108S Missense 29/41 - 1
2-98411458-A-C c.3321T>G p.C1107W Missense 29/41 - 1
2-98411467-T-A c.3312A>T p.L1104F Missense 29/41 - 1
2-98411467-T-G c.3312A>C p.L1104F Missense 29/41 - 1
2-98411468-A-C c.3311T>G p.L1104* Nonsense 29/41 - 3
2-98411468-A-T c.3311T>A p.L1104* Nonsense 29/41 - 2
2-98411472-T-A c.3307A>T p.M1103L Missense 29/41 - 1
2-98411472-T-C c.3307A>G p.M1103V Missense 29/41 - 1
2-98411472-T-G c.3307A>C p.M1103L Missense 29/41 - 1
2-98411481-G-C c.3298C>G p.P1100A Missense 29/41 - 1
2-98411483-A-C c.3296T>G p.L1099R Missense 29/41 - 1
2-98411486-G-A c.3293C>T p.S1098F Missense 29/41 - 5
2-98411486-GA-AG c.3292_3293delinsCT p.S1098L Missense 29/41 - 1
2-98411500-A-C c.3279T>G p.F1093L Missense 29/41 - 1
2-98411500-A-T c.3279T>A p.F1093L Missense 29/41 - 1
2-98411502-A-G c.3277T>C p.F1093L Missense 29/41 - 1
2-98411511-C-T c.3268G>A p.E1090K Missense 29/41 - 1
2-98411516-C-A c.3263G>T p.G1088V Missense 29/41 - 1
2-98411541-C-G c.3238G>C p.E1080Q Missense 29/41 - 1
2-98411543-C-T c.3236G>A p.R1079Q Missense 29/41 - 1
2-98411544-G-A c.3235C>T p.R1079W Missense 29/41 - 1
2-98411544-G-C c.3235C>G p.R1079G Missense 29/41 - 3
2-98411558-G-T c.3221C>A p.A1074D Missense 29/41 - 1
2-98412562-GA-G c.3200+118del - IntronicDeletion - 28/40 1
2-98411578-C-T c.3201G>A p.L1067= Synonymous 29/41 - 1
2-98412680-CA-C c.3200del p.L1067Cfs*15 Frameshift 28/41 - 1
2-98412682-A-G c.3199T>C p.L1067= Synonymous 28/41 - 1
2-98412685-T-C c.3196A>G p.I1066V Missense 28/41 - 1
2-98412692-A-G c.3189T>C p.D1063= Synonymous 28/41 - 1
2-98412694-C-A c.3187G>T p.D1063Y Missense 28/41 - 3
2-98412696-C-T c.3185G>A p.R1062K Missense 28/41 - 2
2-98412703-C-T c.3178G>A p.A1060T Missense 28/41 - 2
2-98412705-T-C c.3176A>G p.N1059S Missense 28/41 - 2
2-98412708-G-A c.3173C>T p.A1058V Missense 28/41 - 1
2-98412722-C-T c.3159G>A p.E1053= Synonymous 28/41 - 1
2-98412730-A-G c.3151T>C p.C1051R Missense 28/41 - 1
2-98412735-ACAACTTTAAAGC-A c.3134_3145del p.G1045_V1048del InFrameDeletion 28/41 - 1
2-98412747-C-T c.3134G>A p.G1045D Missense 28/41 - 1
2-98412760-A-C c.3121T>G p.C1041G Missense 28/41 - 3
2-98412768-C-A c.3113G>T p.G1038V Missense 28/41 - 1
2-98412778-C-T c.3103G>A p.E1035K Missense 28/41 - 1
2-98412813-T-C c.3068A>G p.N1023S Missense 28/41 - 1
2-98412817-C-T c.3064G>A p.E1022K Missense 28/41 - 1
2-98412819-A-G c.3062T>C p.V1021A Missense 28/41 - 1
2-98412820-C-T c.3061G>A p.V1021I Missense 28/41 - 1
2-98412826-A-C c.3055T>G p.F1019V Missense 28/41 - 1
2-98412830-TCT-CCA c.3049_3051delinsTGG p.R1017W Missense 28/41 - 1
2-98412831-C-A c.3050G>T p.R1017I Missense 28/41 - 7
2-98412842-G-A c.3039C>T p.F1013= Synonymous 28/41 - 5
2-98412847-T-C c.3034A>G p.N1012D Missense 28/41 - 1
2-98412852-T-C c.3029A>G p.E1010G Missense 28/41 - 3
2-98412853-C-A c.3028G>T p.E1010* Nonsense 28/41 - 3
2-98412853-C-G c.3028G>C p.E1010Q Missense 28/41 - 1
2-98412853-C-T c.3028G>A p.E1010K Missense 28/41 - 4
2-98412864-A-C c.3017T>G p.L1006* Nonsense 28/41 - 1
2-98413280-G-T c.3013+27C>A - IntronicSNV - 27/40 1
2-98413299-A-G c.3013+8T>C - IntronicSNV - 27/40 1
2-98413326-C-T c.2994G>A p.L998= Synonymous 27/41 - 1
2-98413329-T-A c.2991A>T p.A997= Synonymous 27/41 - 2
2-98413329-T-C c.2991A>G p.A997= Synonymous 27/41 - 1
2-98413329-T-G c.2991A>C p.A997= Synonymous 27/41 - 1
2-98413334-C-T c.2986G>A p.E996K Missense 27/41 - 1
2-98413338-G-T c.2982C>A p.I994= Synonymous 27/41 - 1
2-98413340-T-C c.2980A>G p.I994V Missense 27/41 - 1
2-98413348-C-G c.2972G>C p.R991P Missense 27/41 - 1
2-98413348-C-T c.2972G>A p.R991H Missense 27/41 - 1
2-98413349-G-A c.2971C>T p.R991C Missense 27/41 - 4
2-98413349-G-C c.2971C>G p.R991G Missense 27/41 - 2
2-98413354-G-A c.2966C>T p.S989F Missense 27/41 - 3
2-98413362-T-C c.2958A>G p.P986= Synonymous 27/41 - 1
2-98413382-C-T c.2938G>A p.A980T Missense 27/41 - 1
2-98413383-C-T c.2937G>A p.V979= Synonymous 27/41 - 1
2-98413384-A-T c.2936T>A p.V979E Missense 27/41 - 3
2-98413385-C-A c.2935G>T p.V979L Missense 27/41 - 1
2-98413385-C-G c.2935G>C p.V979L Missense 27/41 - 1
2-98413385-C-T c.2935G>A p.V979M Missense 27/41 - 1
2-98413397-C-G c.2923G>C p.E975Q Missense 27/41 - 2
2-98413399-G-A c.2921C>T p.T974I Missense 27/41 - 3
2-98413412-C-G c.2908G>C p.G970R Missense 27/41 - 2
2-98413412-C-T c.2908G>A p.G970R Missense 27/41 - 2
2-98413415-G-A c.2905C>T p.Q969* Nonsense 27/41 - 1
2-98413416-G-GA c.2903dup p.Q969Pfs*7 Frameshift 27/41 - 1
2-98413425-A-C c.2895T>G p.A965= Synonymous 27/41 - 1
2-98413425-A-G c.2895T>C p.A965= Synonymous 27/41 - 1
2-98413425-A-T c.2895T>A p.A965= Synonymous 27/41 - 1
2-98413427-C-A c.2893G>T p.A965S Missense 27/41 - 1
2-98413430-C-A c.2890G>T p.D964Y Missense 27/41 - 2
2-98413441-A-G c.2879T>C p.L960P Missense 27/41 - 1
2-98413448-T-C c.2872A>G p.N958D Missense 27/41 - 3
2-98413528-T-C c.2871-79A>G - IntronicSNV - 26/40 1
2-98413781-C-A c.2870+47G>T - IntronicSNV - 26/40 4
2-98413781-C-T c.2870+47G>A - IntronicSNV - 26/40 7
2-98413828-C-T c.2870G>A p.R957K Missense 26/41 - 1
2-98413832-C-A c.2866G>T p.V956F Missense 26/41 - 1
2-98413837-A-G c.2861T>C p.I954T Missense 26/41 - 1
2-98413838-T-C c.2860A>G p.I954V Missense 26/41 - 1
2-98413846-G-T c.2852C>A p.S951Y Missense 26/41 - 1
2-98413854-TCT-ACA c.2842_2844delinsTGT p.R948C Missense 26/41 - 1
2-98413866-T-G c.2832A>C p.P944= Synonymous 26/41 - 1
2-98413876-T-C c.2822A>G p.K941R Missense 26/41 - 1
2-98413878-T-A c.2820A>T p.V940= Synonymous 26/41 - 1
2-98413878-T-C c.2820A>G p.V940= Synonymous 26/41 - 1
2-98413878-T-G c.2820A>C p.V940= Synonymous 26/41 - 1
2-98413883-T-TA c.2814_2815insT p.K939* Nonsense 26/41 - 1
2-98413886-C-T c.2812G>A p.V938I Missense 26/41 - 1
2-98413887-AG-CC c.2810_2811delinsGG p.S937W Missense 26/41 - 1
2-98413888-G-A c.2810C>T p.S937F Missense 26/41 - 1
2-98413898-C-T c.2800G>A p.E934K Missense 26/41 - 4
2-98413900-C-G c.2798G>C p.G933A Missense 26/41 - 1
2-98413910-A-C c.2788T>G p.L930V Missense 26/41 - 1
2-98413910-A-T c.2788T>A p.L930I Missense 26/41 - 5
2-98413913-T-G c.2785A>C p.I929L Missense 26/41 - 1
2-98413914-T-A c.2784A>T p.L928= Synonymous 26/41 - 1
2-98413914-T-C c.2784A>G p.L928= Synonymous 26/41 - 2
2-98413914-T-G c.2784A>C p.L928= Synonymous 26/41 - 1
2-98413916-G-A c.2782C>T p.L928= Synonymous 26/41 - 1
2-98413905-TTTTAAAATTAGG-T c.2781_2792del p.N927_L930del InFrameDeletion 26/41 - 1
2-98413922-A-G c.2776T>C p.L926= Synonymous 26/41 - 1
2-98413930-T-C c.2768A>G p.H923R Missense 26/41 - 1
2-98413934-G-A c.2764C>T p.R922* Nonsense 26/41 - 2
2-98413938-G-A c.2760C>T p.L920= Synonymous 26/41 - 1
2-98413952-A-T c.2746T>A p.F916I Missense 26/41 - 1
2-98413954-C-T c.2744G>A p.G915E Missense 26/41 - 1
2-98413960-G-A c.2738C>T p.S913L Missense 26/41 - 2
2-98413960-G-C c.2738C>G p.S913* Nonsense 26/41 - 1
2-98413960-G-T c.2738C>A p.S913* Nonsense 26/41 - 1
2-98413962-A-G c.2736T>C p.S912= Synonymous 26/41 - 1
2-98413963-C-T c.2735G>A p.S912N Missense 26/41 - 1
2-98413972-G-T c.2726C>A p.P909Q Missense 26/41 - 1
2-98418341-G-T c.2718+17C>A - IntronicSNV - 25/40 1
2-98418360-T-G c.2716A>C p.S906R Missense 25/41 - 1
2-98418372-C-G c.2704G>C p.V902L Missense 25/41 - 1
2-98418372-C-T c.2704G>A p.V902I Missense 25/41 - 1
2-98418391-C-A c.2685G>T p.L895F Missense 25/41 - 2
2-98418391-C-G c.2685G>C p.L895F Missense 25/41 - 2
2-98418396-C-A c.2680G>T p.D894Y Missense 25/41 - 1
2-98418404-G-A c.2672C>T p.A891V Missense 25/41 - 1
2-98418405-C-T c.2671G>A p.A891T Missense 25/41 - 1
2-98418415-C-A c.2661G>T p.L887F Missense 25/41 - 1
2-98418415-C-G c.2661G>C p.L887F Missense 25/41 - 1
2-98418812-CA-C c.2651+78del - IntronicDeletion - 24/40 1
2-98418894-G-A c.2648C>T p.S883L Missense 24/41 - 5
2-98418899-T-C c.2643A>G p.L881= Synonymous 24/41 - 1
2-98418901-A-G c.2641T>C p.L881= Synonymous 24/41 - 1
2-98418904-T-C c.2638A>G p.K880E Missense 24/41 - 1
2-98418905-A-C c.2637T>G p.D879E Missense 24/41 - 1
2-98418905-A-T c.2637T>A p.D879E Missense 24/41 - 1
2-98418907-C-T c.2635G>A p.D879N Missense 24/41 - 1
2-98418911-A-G c.2631T>C p.F877= Synonymous 24/41 - 1
2-98418918-G-A c.2624C>T p.S875L Missense 24/41 - 1
2-98418922-G-A c.2620C>T p.P874S Missense 24/41 - 1
2-98418928-A-G c.2614T>C p.S872P Missense 24/41 - 3
2-98418927-G-GA c.2614dup p.S872Ffs*9 Frameshift 24/41 - 2
2-98418935-A-C c.2607T>G p.A869= Synonymous 24/41 - 1
2-98418935-A-G c.2607T>C p.A869= Synonymous 24/41 - 1
2-98418935-A-T c.2607T>A p.A869= Synonymous 24/41 - 1
2-98418942-G-T c.2600C>A p.P867H Missense 24/41 - 4
2-98418944-A-C c.2598T>G p.I866M Missense 24/41 - 1
2-98418947-A-G c.2595T>C p.F865= Synonymous 24/41 - 1
2-98418952-G-T c.2590C>A p.Q864K Missense 24/41 - 1
2-98418961-C-T c.2581G>A p.V861I Missense 24/41 - 1
2-98418965-A-C c.2577T>G p.V859= Synonymous 24/41 - 1
2-98418965-A-G c.2577T>C p.V859= Synonymous 24/41 - 1
2-98418965-A-T c.2577T>A p.V859= Synonymous 24/41 - 1
2-98418970-C-A c.2572G>T p.D858Y Missense 24/41 - 1
2-98418970-C-G c.2572G>C p.D858H Missense 24/41 - 2
2-98418976-G-A c.2566C>T p.P856S Missense 24/41 - 2
2-98418979-T-C c.2563A>G p.N855D Missense 24/41 - 1
2-98418993-T-G c.2549A>C p.E850A Missense 24/41 - 1
2-98419122-C-A c.2534G>T p.C845F Missense 23/41 - 1
2-98419134-G-A c.2522C>T p.T841I Missense 23/41 - 1
2-98419140-G-A c.2516C>T p.P839L Missense 23/41 - 1
2-98419146-T-C c.2510A>G p.K837R Missense 23/41 - 1
2-98419155-C-T c.2501G>A p.R834Q Missense 23/41 - 4
2-98419156-G-A c.2500C>T p.R834W Missense 23/41 - 3
2-98419156-G-C c.2500C>G p.R834G Missense 23/41 - 1
2-98419164-CT-GG c.2491_2492delinsCC p.S831P Missense 23/41 - 1
2-98419167-A-G c.2489T>C p.L830P Missense 23/41 - 1
2-98419170-A-C c.2486T>G p.I829R Missense 23/41 - 2
2-98419170-A-T c.2486T>A p.I829K Missense 23/41 - 1
2-98419191-G-A c.2465C>T p.A822V Missense 23/41 - 1
2-98419195-T-C c.2461A>G p.T821A Missense 23/41 - 1
2-98419202-T-C c.2454A>G p.S818= Synonymous 23/41 - 1
2-98419203-G-C c.2453C>G p.S818* Nonsense 23/41 - 1
2-98419203-G-T c.2453C>A p.S818* Nonsense 23/41 - 1
2-98419207-TTA-T c.2447_2448del p.I816Nfs*7 Frameshift 23/41 - 1
2-98419213-T-TA c.2442_2443insT p.N815* Nonsense 23/41 - 2
2-98419214-T-A c.2442A>T p.K814N Missense 23/41 - 1
2-98419214-T-G c.2442A>C p.K814N Missense 23/41 - 1
2-98419211-AT-A c.2444del p.N815Ifs*2 Frameshift 23/41 - 3
2-98419234-C-T c.2422G>A p.V808I Missense 23/41 - 1
2-98419241-T-A c.2415A>T p.I805= Synonymous 23/41 - 1
2-98419243-T-C c.2413A>G p.I805V Missense 23/41 - 2
2-98419534-G-A c.2403-281C>T - IntronicSNV - 22/40 2
2-98421364-A-G c.2402+187T>C - IntronicSNV - 22/40 1
2-98421562-A-T c.2391T>A p.N797K Missense 22/41 - 1
2-98421567-C-A c.2386G>T p.E796* Nonsense 22/41 - 1
2-98421567-C-T c.2386G>A p.E796K Missense 22/41 - 2
2-98421576-C-A c.2377G>T p.G793* Nonsense 22/41 - 1
2-98421583-TCC-ACA c.2368_2370delinsTGT p.G790C Missense 22/41 - 1
2-98421603-G-A c.2350C>T p.H784Y Missense 22/41 - 1
2-98421609-C-A c.2344G>T p.D782Y Missense 22/41 - 1
2-98421609-C-T c.2344G>A p.D782N Missense 22/41 - 1
2-98421610-C-A c.2343G>T p.W781C Missense 22/41 - 2
2-98421610-C-G c.2343G>C p.W781C Missense 22/41 - 1
2-98421620-T-C c.2333A>G p.D778G Missense 22/41 - 2
2-98421621-C-A c.2332G>T p.D778Y Missense 22/41 - 1
2-98421623-C-A c.2330G>T p.W777L Missense 22/41 - 1
2-98421626-A-G c.2327T>C p.M776T Missense 22/41 - 2
2-98421630-C-T c.2323G>A p.D775N Missense 22/41 - 1
2-98421631-T-A c.2322A>T p.E774D Missense 22/41 - 1
2-98421631-T-G c.2322A>C p.E774D Missense 22/41 - 1
2-98421634-C-T c.2319G>A p.Q773= Synonymous 22/41 - 1
2-98421635-T-C c.2318A>G p.Q773R Missense 22/41 - 2
2-98421638-A-G c.2315T>C p.M772T Missense 22/41 - 1
2-98421639-T-C c.2314A>G p.M772V Missense 22/41 - 1
2-98421650-G-A c.2303C>T p.P768L Missense 22/41 - 2
2-98421652-C-A c.2301G>T p.Q767H Missense 22/41 - 1
2-98421663-G-C c.2290C>G p.P764A Missense 22/41 - 2
2-98421739-G-A c.2285-71C>T - IntronicSNV - 21/40 1
2-98421739-G-C c.2285-71C>G - IntronicSNV - 21/40 1
2-98421846-T-A c.2277A>T p.L759= Synonymous 21/41 - 1
2-98421846-T-C c.2277A>G p.L759= Synonymous 21/41 - 1
2-98421846-T-G c.2277A>C p.L759= Synonymous 21/41 - 2
2-98421848-G-A c.2275C>T p.L759= Synonymous 21/41 - 1
2-98421857-A-G c.2266T>C p.L756= Synonymous 21/41 - 1
2-98421876-C-A c.2247G>T p.G749= Synonymous 21/41 - 1
2-98421876-C-G c.2247G>C p.G749= Synonymous 21/41 - 1
2-98421876-C-T c.2247G>A p.G749= Synonymous 21/41 - 1
2-98421880-C-G c.2243G>C p.C748S Missense 21/41 - 1
2-98421881-A-T c.2242T>A p.C748S Missense 21/41 - 1
2-98421885-T-A c.2238A>T p.L746= Synonymous 21/41 - 1
2-98421885-T-C c.2238A>G p.L746= Synonymous 21/41 - 1
2-98421885-T-G c.2238A>C p.L746= Synonymous 21/41 - 1
2-98421887-G-A c.2236C>T p.L746= Synonymous 21/41 - 1
2-98421887-G-C c.2236C>G p.L746V Missense 21/41 - 4
2-98421889-C-A c.2234G>T p.G745V Missense 21/41 - 2
2-98421889-C-G c.2234G>C p.G745A Missense 21/41 - 1
2-98421890-C-A c.2233G>T p.G745* Nonsense 21/41 - 2
2-98421892-G-A c.2231C>T p.P744L Missense 21/41 - 3
2-98421906-G-A c.2217C>T p.N739= Synonymous 21/41 - 3
2-98421911-C-A c.2212G>T p.A738S Missense 21/41 - 1
2-98422018-G-C c.2204C>G p.S735* Nonsense 20/41 - 2
2-98422018-G-T c.2204C>A p.S735* Nonsense 20/41 - 1
2-98422019-A-T c.2203T>A p.S735T Missense 20/41 - 1
2-98422025-T-C c.2197A>G p.K733E Missense 20/41 - 1
2-98422019-A-AT c.2202dup p.S735Ifs*9 Frameshift 20/41 - 2
2-98422027-C-T c.2195G>A p.G732E Missense 20/41 - 1
2-98422026-TCCTGG-T c.2191_2195del p.P731Kfs*11 Frameshift 20/41 - 1
2-98422030-G-A c.2192C>T p.P731L Missense 20/41 - 1
2-98422034-C-T c.2188G>A p.E730K Missense 20/41 - 1
2-98422035-C-T c.2187G>A p.L729= Synonymous 20/41 - 1
2-98422037-A-G c.2185T>C p.L729= Synonymous 20/41 - 1
2-98422040-C-T c.2182G>A p.D728N Missense 20/41 - 3
2-98422049-T-C c.2173A>G p.N725D Missense 20/41 - 1
2-98422054-C-T c.2168G>A p.R723Q Missense 20/41 - 2
2-98422055-G-A c.2167C>T p.R723W Missense 20/41 - 1
2-98422055-G-C c.2167C>G p.R723G Missense 20/41 - 1
2-98422060-C-A c.2162G>T p.R721L Missense 20/41 - 1
2-98422060-C-T c.2162G>A p.R721Q Missense 20/41 - 2
2-98422066-T-C c.2156A>G p.Y719C Missense 20/41 - 1
2-98422067-A-G c.2155T>C p.Y719H Missense 20/41 - 3
2-98422067-A-T c.2155T>A p.Y719N Missense 20/41 - 1
2-98422070-A-G c.2152T>C p.Y718H Missense 20/41 - 1
2-98422075-C-A c.2147G>T p.R716L Missense 20/41 - 1
2-98422075-C-G c.2147G>C p.R716P Missense 20/41 - 4
2-98422075-C-T c.2147G>A p.R716Q Missense 20/41 - 3
2-98422074-T-A c.2148A>T p.R716= Synonymous 20/41 - 1
2-98422074-T-C c.2148A>G p.R716= Synonymous 20/41 - 1
2-98422074-T-G c.2148A>C p.R716= Synonymous 20/41 - 1
2-98422076-G-A c.2146C>T p.R716* Nonsense 20/41 - 1
2-98422076-G-T c.2146C>A p.R716= Synonymous 20/41 - 1
2-98422077-CAC-GAT c.2143_2145delinsATC p.V715I Missense 20/41 - 1
2-98422079-C-A c.2143G>T p.V715L Missense 20/41 - 4
2-98422079-C-G c.2143G>C p.V715L Missense 20/41 - 3
2-98422082-C-A c.2140G>T p.D714Y Missense 20/41 - 1
2-98422082-C-T c.2140G>A p.D714N Missense 20/41 - 1
2-98422091-A-C c.2131T>G p.L711V Missense 20/41 - 1
2-98422096-C-G c.2126G>C p.R709P Missense 20/41 - 1
2-98422096-C-T c.2126G>A p.R709Q Missense 20/41 - 1
2-98422097-G-A c.2125C>T p.R709* Nonsense 20/41 - 1
2-98422100-T-C c.2122A>G p.I708V Missense 20/41 - 1
2-98422108-A-G c.2114T>C p.I705T Missense 20/41 - 2
2-98422109-T-C c.2113A>G p.I705V Missense 20/41 - 2
2-98422110-T-A c.2112A>T p.K704N Missense 20/41 - 2
2-98422110-T-G c.2112A>C p.K704N Missense 20/41 - 2
2-98422116-C-G c.2106G>C p.K702N Missense 20/41 - 1
2-98422121-G-C c.2101C>G p.Q701E Missense 20/41 - 1
2-98422122-T-A c.2100A>T p.S700= Synonymous 20/41 - 1
2-98422122-T-C c.2100A>G p.S700= Synonymous 20/41 - 1
2-98422122-T-G c.2100A>C p.S700= Synonymous 20/41 - 1
2-98422125-G-C c.2097C>G p.F699L Missense 20/41 - 1
2-98422128-G-A c.2094C>T p.S698= Synonymous 20/41 - 1
2-98422128-G-C c.2094C>G p.S698= Synonymous 20/41 - 1
2-98422128-G-T c.2094C>A p.S698= Synonymous 20/41 - 1
2-98422129-G-A c.2093C>T p.S698F Missense 20/41 - 5
2-98422130-A-C c.2092T>G p.S698A Missense 20/41 - 1
2-98422132-T-C c.2090A>G p.N697S Missense 20/41 - 8
2-98422139-T-C c.2083A>G p.I695V Missense 20/41 - 1
2-98422147-C-G c.2075G>C p.S692T Missense 20/41 - 1
2-98422152-A-C c.2070T>G p.H690Q Missense 20/41 - 1
2-98422152-A-T c.2070T>A p.H690Q Missense 20/41 - 1
2-98426107-G-A c.2055+44C>T - IntronicSNV - 19/40 1
2-98426108-C-CA c.2055+42dup - IntronicInsertion - 19/40 1
2-98426152-G-A c.2054C>T p.P685L Missense 19/41 - 1
2-98426152-G-T c.2054C>A p.P685Q Missense 19/41 - 1
2-98426153-G-A c.2053C>T p.P685S Missense 19/41 - 2
2-98426157-G-A c.2049C>T p.S683= Synonymous 19/41 - 1
2-98426165-G-A c.2041C>T p.P681S Missense 19/41 - 1
2-98426168-G-A c.2038C>T p.L680F Missense 19/41 - 2
2-98426174-C-T c.2032G>A p.V678M Missense 19/41 - 1
2-98426182-G-C c.2024C>G p.P675R Missense 19/41 - 1
2-98426185-A-C c.2021T>G p.F674C Missense 19/41 - 1
2-98426197-G-A c.2009C>T p.S670L Missense 19/41 - 1
2-98426200-C-A c.2006G>T p.G669V Missense 19/41 - 1
2-98426203-A-G c.2003T>C p.V668A Missense 19/41 - 1
2-98426208-A-G c.1998T>C p.I666= Synonymous 19/41 - 1
2-98426208-A-T c.1998T>A p.I666= Synonymous 19/41 - 1
2-98426211-C-A c.1995G>T p.V665= Synonymous 19/41 - 1
2-98426211-C-G c.1995G>C p.V665= Synonymous 19/41 - 1
2-98426211-C-T c.1995G>A p.V665= Synonymous 19/41 - 2
2-98426216-C-A c.1990G>T p.A664S Missense 19/41 - 4
2-98426234-G-C c.1972C>G p.L658V Missense 19/41 - 1
2-98426235-G-A c.1971C>T p.I657= Synonymous 19/41 - 1
2-98426235-G-T c.1971C>A p.I657= Synonymous 19/41 - 1
2-98426381-T-C c.1969-144A>G - IntronicSNV - 18/40 1
2-98427382-T-C c.1968+209A>G - IntronicSNV - 18/40 2
2-98427513-C-G c.1968+78G>C - IntronicSNV - 18/40 1
2-98427599-C-T c.1960G>A p.D654N Missense 18/41 - 1
2-98427601-G-A c.1958C>T p.T653I Missense 18/41 - 1
2-98427601-G-C c.1958C>G p.T653R Missense 18/41 - 1
2-98427601-G-T c.1958C>A p.T653K Missense 18/41 - 1
2-98427602-T-C c.1957A>G p.T653A Missense 18/41 - 1
2-98427611-G-C c.1948C>G p.Q650E Missense 18/41 - 1
2-98427617-C-A c.1942G>T p.A648S Missense 18/41 - 1
2-98427619-C-T c.1940G>A p.G647E Missense 18/41 - 2
2-98427625-T-C c.1934A>G p.H645R Missense 18/41 - 1
2-98427628-A-G c.1931T>C p.I644T Missense 18/41 - 2
2-98427633-C-T c.1926G>A p.E642= Synonymous 18/41 - 2
2-98427638-A-T c.1921T>A p.L641I Missense 18/41 - 1
2-98427641-T-A c.1918A>T p.K640* Nonsense 18/41 - 1
2-98427641-T-TA c.1917_1918insT p.K640* Nonsense 18/41 - 3
2-98427638-A-AT c.1920dup p.L641Ifs*6 Frameshift 18/41 - 4
2-98427638-AT-A c.1920del p.K640Nfs*2 Frameshift 18/41 - 6
2-98427647-C-G c.1912G>C p.A638P Missense 18/41 - 1
2-98427651-A-G c.1908T>C p.L636= Synonymous 18/41 - 3
2-98427666-G-A c.1893C>T p.V631= Synonymous 18/41 - 1
2-98427666-G-C c.1893C>G p.V631= Synonymous 18/41 - 1
2-98427666-G-T c.1893C>A p.V631= Synonymous 18/41 - 1
2-98427676-T-A c.1883A>T p.Y628F Missense 18/41 - 1
2-98427676-T-C c.1883A>G p.Y628C Missense 18/41 - 1
2-98427694-A-G c.1865T>C p.V622A Missense 18/41 - 2
2-98427737-T-C c.1864-42A>G - IntronicSNV - 17/40 1
2-98428809-T-C c.1863+75A>G - IntronicSNV - 17/40 1
2-98428884-C-A c.1863G>T p.S621= Synonymous 17/41 - 1
2-98428884-C-G c.1863G>C p.S621= Synonymous 17/41 - 1
2-98428884-C-T c.1863G>A p.S621= Synonymous 17/41 - 2
2-98428889-A-G c.1858T>C p.S620P Missense 17/41 - 1
2-98428890-T-C c.1857A>G p.Q619= Synonymous 17/41 - 1
2-98428892-G-A c.1855C>T p.Q619* Nonsense 17/41 - 1
2-98428892-G-C c.1855C>G p.Q619E Missense 17/41 - 1
2-98428897-G-A c.1850C>T p.S617L Missense 17/41 - 1
2-98428899-T-A c.1848A>T p.L616F Missense 17/41 - 1
2-98428906-G-A c.1841C>T p.S614F Missense 17/41 - 1
2-98428913-C-G c.1834G>C p.E612Q Missense 17/41 - 5
2-98428914-A-C c.1833T>G p.F611L Missense 17/41 - 1
2-98428914-A-T c.1833T>A p.F611L Missense 17/41 - 1
2-98428916-A-G c.1831T>C p.F611L Missense 17/41 - 1
2-98428917-C-T c.1830G>A p.E610= Synonymous 17/41 - 2
2-98428919-C-G c.1828G>C p.E610Q Missense 17/41 - 1
2-98428919-C-T c.1828G>A p.E610K Missense 17/41 - 1
2-98428925-G-T c.1822C>A p.L608M Missense 17/41 - 1
2-98428930-G-A c.1817C>T p.S606L Missense 17/41 - 1
2-98428931-A-G c.1816T>C p.S606P Missense 17/41 - 1
2-98428934-T-G c.1813A>C p.I605L Missense 17/41 - 2
2-98428937-T-C c.1810A>G p.I604V Missense 17/41 - 3
2-98428939-G-A c.1808C>T p.T603I Missense 17/41 - 1
2-98428942-G-A c.1805C>T p.T602I Missense 17/41 - 2
2-98428945-C-A c.1802G>T p.R601I Missense 17/41 - 2
2-98428945-C-T c.1802G>A p.R601K Missense 17/41 - 1
2-98428945-CT-TG c.1801_1802delinsCA p.R601Q Missense 17/41 - 1
2-98428946-T-A c.1801A>T p.R601* Nonsense 17/41 - 1
2-98428948-T-C c.1799A>G p.N600S Missense 17/41 - 1
2-98428954-C-T c.1793G>A p.R598K Missense 17/41 - 1
2-98428955-T-C c.1792A>G p.R598G Missense 17/41 - 1
2-98428958-C-G c.1789G>C p.E597Q Missense 17/41 - 1
2-98428966-A-C c.1781T>G p.V594G Missense 17/41 - 1
2-98428967-C-A c.1780G>T p.V594L Missense 17/41 - 6
2-98428967-C-G c.1780G>C p.V594L Missense 17/41 - 9
2-98428979-A-G c.1768T>C p.S590P Missense 17/41 - 1
2-98428980-AT-A c.1767del p.L589Ffs*3 Frameshift 17/41 - 1
2-98428985-C-T c.1762G>A p.G588S Missense 17/41 - 1
2-98428986-G-A c.1761C>T p.D587= Synonymous 17/41 - 1
2-98428986-G-C c.1761C>G p.D587E Missense 17/41 - 2
2-98428986-G-T c.1761C>A p.D587E Missense 17/41 - 1
2-98428988-C-A c.1759G>T p.D587Y Missense 17/41 - 3
2-98428988-C-T c.1759G>A p.D587N Missense 17/41 - 1
2-98429002-C-G c.1745G>C p.W582S Missense 17/41 - 1
2-98429003-A-C c.1744T>G p.W582G Missense 17/41 - 1
2-98429009-T-G c.1738A>C p.K580Q Missense 17/41 - 3
2-98429012-T-C c.1735A>G p.I579V Missense 17/41 - 3
2-98429014-G-A c.1733C>T p.A578V Missense 17/41 - 1
2-98429017-A-G c.1730T>C p.L577S Missense 17/41 - 1
2-98429102-C-T c.1728G>A p.E576= Synonymous 16/41 - 1
2-98429106-A-T c.1724T>A p.I575N Missense 16/41 - 3
2-98429117-G-C c.1713C>G p.N571K Missense 16/41 - 1
2-98429117-G-T c.1713C>A p.N571K Missense 16/41 - 1
2-98429118-T-A c.1712A>T p.N571I Missense 16/41 - 1
2-98429121-A-G c.1709T>C p.I570T Missense 16/41 - 1
2-98429128-C-T c.1702G>A p.A568T Missense 16/41 - 2
2-98429136-A-G c.1694T>C p.I565T Missense 16/41 - 1
2-98429149-C-G c.1681G>C p.E561Q Missense 16/41 - 2
2-98429150-TG-CA c.1679_1680inv p.T560M Missense 16/41 - 1
2-98429156-A-G c.1674T>C p.S558= Synonymous 16/41 - 1
2-98429157-CT-TA c.1672_1673delinsTA p.S558Y Missense 16/41 - 1
2-98429163-A-G c.1667T>C p.V556A Missense 16/41 - 3
2-98429167-C-CA c.1662dup p.G555Wfs*10 Frameshift 16/41 - 3
2-98429173-C-T c.1657G>A p.D553N Missense 16/41 - 1
2-98429174-T-A c.1656A>T p.I552= Synonymous 16/41 - 1
2-98429174-T-G c.1656A>C p.I552= Synonymous 16/41 - 1
2-98429176-T-C c.1654A>G p.I552V Missense 16/41 - 3
2-98429183-T-C c.1647A>G p.E549= Synonymous 16/41 - 1
2-98429184-T-A c.1646A>T p.E549V Missense 16/41 - 1
2-98429193-T-C c.1637A>G p.K546R Missense 16/41 - 2
2-98429197-G-A c.1633C>T p.P545S Missense 16/41 - 1
2-98429194-T-TG c.1635dup p.K546Qfs*19 Frameshift 16/41 - 1
2-98429201-C-A c.1629G>T p.L543F Missense 16/41 - 1
2-98429201-C-G c.1629G>C p.L543F Missense 16/41 - 1
2-98429438-C-A c.1618-226G>T - IntronicSNV - 15/40 1
2-98429438-C-G c.1618-226G>C - IntronicSNV - 15/40 1
2-98429438-C-T c.1618-226G>A - IntronicSNV - 15/40 1
2-98430118-C-A c.1617+316G>T - IntronicSNV - 15/40 1
2-98430437-T-TA c.1613dup p.L538Ffs*27 Frameshift 15/41 - 2
2-98430448-T-A c.1603A>T p.T535S Missense 15/41 - 1
2-98430457-G-A c.1594C>T p.R532W Missense 15/41 - 1
2-98430458-C-T c.1593G>A p.V531= Synonymous 15/41 - 1
2-98430460-C-A c.1591G>T p.V531L Missense 15/41 - 4
2-98430460-C-G c.1591G>C p.V531L Missense 15/41 - 2
2-98430460-C-T c.1591G>A p.V531M Missense 15/41 - 4
2-98430462-G-T c.1589C>A p.P530H Missense 15/41 - 1
2-98430463-G-A c.1588C>T p.P530S Missense 15/41 - 2
2-98430468-T-C c.1583A>G p.H528R Missense 15/41 - 1
2-98430471-A-C c.1580T>G p.F527C Missense 15/41 - 1
2-98430477-G-T c.1574C>A p.S525Y Missense 15/41 - 1
2-98430490-T-C c.1561A>G p.I521V Missense 15/41 - 1
2-98430493-G-A c.1558C>T p.L520F Missense 15/41 - 1
2-98430495-AA-TG c.1555_1556delinsCA p.L519Q Missense 15/41 - 1
2-98430501-T-A c.1550A>T p.N517I Missense 15/41 - 1
2-98430503-G-A c.1548C>T p.N516= Synonymous 15/41 - 2
2-98430514-G-T c.1537C>A p.H513N Missense 15/41 - 1
2-98430528-G-A c.1523C>T p.S508F Missense 15/41 - 3
2-98430532-G-A c.1519C>T p.P507S Missense 15/41 - 1
2-98430537-A-C c.1514T>G p.F505C Missense 15/41 - 1
2-98430542-C-A c.1509G>T p.L503= Synonymous 15/41 - 1
2-98430542-C-G c.1509G>C p.L503= Synonymous 15/41 - 1
2-98430542-C-T c.1509G>A p.L503= Synonymous 15/41 - 1
2-98430544-G-A c.1507C>T p.L503= Synonymous 15/41 - 1
2-98430546-G-A c.1505C>T p.T502I Missense 15/41 - 2
2-98430551-A-C c.1500T>G p.I500M Missense 15/41 - 1
2-98430560-T-C c.1491A>G p.S497= Synonymous 15/41 - 1
2-98430570-G-C c.1481C>G p.P494R Missense 15/41 - 2
2-98430569-AG-A c.1481del p.P494Lfs*45 Frameshift 15/41 - 1
2-98430593-G-A c.1458C>T p.F486= Synonymous 15/41 - 2
2-98430594-A-C c.1457T>G p.F486C Missense 15/41 - 1
2-98430603-A-G c.1448T>C p.V483A Missense 15/41 - 5
2-98430693-C-T c.1446+5G>A - IntronicSNV - 14/40 1
2-98430700-T-G c.1444A>C p.K482Q Missense 14/41 - 1
2-98430704-C-A c.1440G>T p.M480I Missense 14/41 - 1
2-98430704-C-G c.1440G>C p.M480I Missense 14/41 - 1
2-98430704-C-T c.1440G>A p.M480I Missense 14/41 - 1
2-98430709-T-C c.1435A>G p.T479A Missense 14/41 - 1
2-98430710-T-C c.1434A>G p.K478= Synonymous 14/41 - 1
2-98430719-T-A c.1425A>T p.E475D Missense 14/41 - 1
2-98430719-T-G c.1425A>C p.E475D Missense 14/41 - 1
2-98430721-C-T c.1423G>A p.E475K Missense 14/41 - 1
2-98430725-T-A c.1419A>T p.L473= Synonymous 14/41 - 1
2-98430725-T-C c.1419A>G p.L473= Synonymous 14/41 - 1
2-98430725-T-G c.1419A>C p.L473= Synonymous 14/41 - 1
2-98430727-G-A c.1417C>T p.L473= Synonymous 14/41 - 1
2-98430730-A-C c.1414T>G p.L472V Missense 14/41 - 1
2-98430732-A-G c.1412T>C p.V471A Missense 14/41 - 1
2-98430736-C-T c.1408G>A p.D470N Missense 14/41 - 4
2-98430737-G-A c.1407C>T p.H469= Synonymous 14/41 - 1
2-98430749-C-T c.1395G>A p.A465= Synonymous 14/41 - 1
2-98430750-G-A c.1394C>T p.A465V Missense 14/41 - 3
2-98430751-C-T c.1393G>A p.A465T Missense 14/41 - 1
2-98430755-A-C c.1389T>G p.S463R Missense 14/41 - 1
2-98430755-A-T c.1389T>A p.S463R Missense 14/41 - 1
2-98430757-T-G c.1387A>C p.S463R Missense 14/41 - 1
2-98430762-G-A c.1382C>T p.T461I Missense 14/41 - 1
2-98430769-T-C c.1375A>G p.T459A Missense 14/41 - 1
2-98430777-A-AT c.1366dup p.I456Nfs*5 Frameshift 14/41 - 1
2-98430782-C-T c.1362G>A p.R454= Synonymous 14/41 - 1
2-98430784-T-G c.1360A>C p.R454= Synonymous 14/41 - 1
2-98430784-T-A c.1360A>T p.R454W Missense 14/41 - 1
2-98430784-T-C c.1360A>G p.R454G Missense 14/41 - 1
2-98430787-C-CA c.1356_1357insT p.E453* Nonsense 14/41 - 2
2-98430787-C-T c.1357G>A p.E453K Missense 14/41 - 4
2-98430790-C-T c.1354G>A p.V452M Missense 14/41 - 1
2-98430792-G-A c.1352C>T p.P451L Missense 14/41 - 1
2-98430796-C-T c.1348G>A p.D450N Missense 14/41 - 1
2-98430799-C-T c.1345G>A p.A449T Missense 14/41 - 1
2-98430811-G-A c.1333C>T p.R445* Nonsense 14/41 - 1
2-98430814-T-C c.1330A>G p.I444V Missense 14/41 - 1
2-98430821-T-C c.1323A>G p.L441= Synonymous 14/41 - 2
2-98430823-A-G c.1321T>C p.L441= Synonymous 14/41 - 1
2-98430832-C-A c.1312G>T p.A438S Missense 14/41 - 1
2-98430837-T-A c.1307A>T p.D436V Missense 14/41 - 1
2-98430838-C-A c.1306G>T p.D436Y Missense 14/41 - 2
2-98430838-C-G c.1306G>C p.D436H Missense 14/41 - 3
2-98430903-T-G c.1293-52A>C - IntronicSNV - 13/40 1
2-98431667-T-A c.1287A>T p.L429F Missense 13/41 - 1
2-98431679-T-A c.1275A>T p.Q425H Missense 13/41 - 1
2-98431679-T-G c.1275A>C p.Q425H Missense 13/41 - 1
2-98431678-C-CT c.1275dup p.A426Sfs*11 Frameshift 13/41 - 1
2-98431681-G-A c.1273C>T p.Q425* Nonsense 13/41 - 1
2-98431687-G-A c.1267C>T p.P423S Missense 13/41 - 1
2-98431689-A-G c.1265T>C p.I422T Missense 13/41 - 2
2-98431701-G-A c.1253C>T p.S418F Missense 13/41 - 1
2-98431701-G-T c.1253C>A p.S418Y Missense 13/41 - 1
2-98431704-T-A c.1250A>T p.Y417F Missense 13/41 - 1
2-98431707-C-G c.1247G>C p.S416T Missense 13/41 - 1
2-98431712-T-A c.1242A>T p.E414D Missense 13/41 - 1
2-98431712-T-G c.1242A>C p.E414D Missense 13/41 - 1
2-98431714-C-T c.1240G>A p.E414K Missense 13/41 - 2
2-98431720-C-T c.1234G>A p.A412T Missense 13/41 - 1
2-98431730-TA-GC c.1223_1224delinsGC p.I408S Missense 13/41 - 1
2-98431731-A-C c.1223T>G p.I408R Missense 13/41 - 1
2-98431735-T-G c.1219A>C p.K407Q Missense 13/41 - 2
2-98431743-A-C c.1211T>G p.F404C Missense 13/41 - 2
2-98431746-T-C c.1208A>G p.Q403R Missense 13/41 - 1
2-98431749-G-A c.1205C>T p.S402F Missense 13/41 - 1
2-98431762-C-T c.1192G>A p.A398T Missense 13/41 - 1
2-98431766-C-A c.1188G>T p.S396= Synonymous 13/41 - 1
2-98431766-C-G c.1188G>C p.S396= Synonymous 13/41 - 1
2-98431766-C-T c.1188G>A p.S396= Synonymous 13/41 - 3
2-98431767-G-C c.1187C>G p.S396W Missense 13/41 - 4
2-98431780-A-G c.1184-10T>C - IntronicSNV - 12/40 1
2-98432189-G-A c.1184-419C>T - IntronicSNV - 12/40 1
2-98433664-G-A c.1183+1412C>T - IntronicSNV - 12/40 1
2-98434944-G-A c.1183+132C>T - IntronicSNV - 12/40 1
2-98435080-A-G c.1179T>C p.F393= Synonymous 12/41 - 1
2-98435087-A-C c.1172T>G p.I391S Missense 12/41 - 1
2-98435090-CT-AG c.1168_1169inv p.S390L Missense 12/41 - 1
2-98435093-G-A c.1166C>T p.A389V Missense 12/41 - 2
2-98435095-AAC-CAT c.1162_1164delinsATG p.V388M Missense 12/41 - 1
2-98435099-T-A c.1160A>T p.K387M Missense 12/41 - 1
2-98435102-G-A c.1157C>T p.T386I Missense 12/41 - 2
2-98435108-T-C c.1151A>G p.K384R Missense 12/41 - 1
2-98435111-C-T c.1148G>A p.S383N Missense 12/41 - 10
2-98435112-T-A c.1147A>T p.S383C Missense 12/41 - 1
2-98435115-C-A c.1144G>T p.E382* Nonsense 12/41 - 1
2-98435125-T-G c.1134A>C p.L378F Missense 12/41 - 1
2-98435131-A-G c.1128T>C p.I376= Synonymous 12/41 - 1
2-98435131-A-T c.1128T>A p.I376= Synonymous 12/41 - 1
2-98435135-G-A c.1124C>T p.P375L Missense 12/41 - 1
2-98435140-A-G c.1119T>C p.F373= Synonymous 12/41 - 1
2-98435148-C-T c.1111G>A p.V371I Missense 12/41 - 2
2-98435150-G-A c.1109C>T p.T370M Missense 12/41 - 5
2-98435150-G-C c.1109C>G p.T370R Missense 12/41 - 1
2-98435151-T-G c.1108A>C p.T370P Missense 12/41 - 1
2-98435156-G-T c.1103C>A p.A368D Missense 12/41 - 1
2-98435159-T-C c.1100A>G p.D367G Missense 12/41 - 1
2-98435160-C-A c.1099G>T p.D367Y Missense 12/41 - 1
2-98435173-AG-TT c.1085_1086delinsAA p.P362Q Missense 12/41 - 1
2-98435175-G-A c.1084C>T p.P362S Missense 12/41 - 1
2-98435175-G-T c.1084C>A p.P362T Missense 12/41 - 1
2-98435246-T-C c.1075-62A>G - IntronicSNV - 11/40 1
2-98442202-G-A c.1075-7018C>T - IntronicSNV - 11/40 1
2-98442202-G-T c.1075-7018C>A - IntronicSNV - 11/40 1
2-98443612-T-C c.1074+6216A>G - IntronicSNV - 11/40 1
2-98443694-C-T c.1074+6134G>A - IntronicSNV - 11/40 1
2-98443844-C-T c.1074+5984G>A - IntronicSNV - 11/40 1
2-98444268-T-C c.1074+5560A>G - IntronicSNV - 11/40 2
2-98444296-T-C c.1074+5532A>G - IntronicSNV - 11/40 3
2-98444405-T-C c.1074+5423A>G - IntronicSNV - 11/40 2
2-98444552-A-G c.1074+5276T>C - IntronicSNV - 11/40 3
2-98444560-T-C c.1074+5268A>G - IntronicSNV - 11/40 1
2-98444599-T-C c.1074+5229A>G - IntronicSNV - 11/40 1
2-98444632-T-C c.1074+5196A>G - IntronicSNV - 11/40 1
2-98444708-T-G c.1074+5120A>C - IntronicSNV - 11/40 1
2-98449182-G-A c.1074+646C>T - IntronicSNV - 11/40 1
2-98449522-C-A c.1074+306G>T - IntronicSNV - 11/40 1
2-98449796-C-T c.1074+32G>A - IntronicSNV - 11/40 7
2-98449836-G-C c.1066C>G p.P356A Missense 11/41 - 2
2-98449850-C-T c.1052G>A p.G351E Missense 11/41 - 1
2-98449851-C-A c.1051G>T p.G351* Nonsense 11/41 - 3
2-98449858-T-C c.1044A>G p.L348= Synonymous 11/41 - 1
2-98449860-A-G c.1042T>C p.L348= Synonymous 11/41 - 1
2-98449874-A-C c.1028T>G p.L343* Nonsense 11/41 - 1
2-98449874-A-T c.1028T>A p.L343* Nonsense 11/41 - 1
2-98449875-A-T c.1027T>A p.L343I Missense 11/41 - 1
2-98449887-G-C c.1015C>G p.L339V Missense 11/41 - 1
2-98450989-T-TA c.1012+94dup - IntronicInsertion - 10/40 1
2-98451074-AT-A c.1012+9del - IntronicDeletion - 10/40 1
2-98451087-G-A c.1009C>T p.Q337* Nonsense 10/41 - 1
2-98451092-TC-T c.1004del p.R335Kfs*9 Frameshift 10/41 - 1
2-98451098-G-T c.998C>A p.T333K Missense 10/41 - 1
2-98451099-T-C c.997A>G p.T333A Missense 10/41 - 1
2-98451101-C-A c.995G>T p.G332V Missense 10/41 - 2
2-98451124-G-C c.972C>G p.S324= Synonymous 10/41 - 1
2-98451125-G-T c.971C>A p.S324Y Missense 10/41 - 1
2-98451132-T-A c.964A>T p.I322F Missense 10/41 - 1
2-98451132-T-C c.964A>G p.I322V Missense 10/41 - 1
2-98451138-G-A c.958C>T p.P320S Missense 10/41 - 2
2-98451140-G-T c.956C>A p.A319D Missense 10/41 - 1
2-98451243-G-T c.950C>A p.T317K Missense 9/41 - 1
2-98451244-T-C c.949A>G p.T317A Missense 9/41 - 2
2-98451247-C-T c.946G>A p.V316I Missense 9/41 - 1
2-98451252-A-G c.941T>C p.V314A Missense 9/41 - 1
2-98451256-C-A c.937G>T p.E313* Nonsense 9/41 - 1
2-98451260-A-C c.933T>G p.P311= Synonymous 9/41 - 1
2-98451260-A-G c.933T>C p.P311= Synonymous 9/41 - 1
2-98451260-A-T c.933T>A p.P311= Synonymous 9/41 - 1
2-98451268-T-C c.925A>G p.I309V Missense 9/41 - 2
2-98451273-A-C c.920T>G p.F307C Missense 9/41 - 1
2-98451272-A-C c.921T>G p.F307L Missense 9/41 - 1
2-98451272-A-T c.921T>A p.F307L Missense 9/41 - 1
2-98451274-A-G c.919T>C p.F307L Missense 9/41 - 1
2-98451279-G-A c.914C>T p.T305I Missense 9/41 - 1
2-98451284-G-A c.909C>T p.D303= Synonymous 9/41 - 1
2-98451286-C-G c.907G>C p.D303H Missense 9/41 - 1
2-98451301-T-G c.892A>C p.K298Q Missense 9/41 - 1
2-98451303-A-T c.890T>A p.I297K Missense 9/41 - 1
2-98451306-C-T c.887G>A p.R296K Missense 9/41 - 1
2-98451309-A-C c.884T>G p.I295R Missense 9/41 - 1
2-98451310-T-A c.883A>T p.I295L Missense 9/41 - 2
2-98451310-T-G c.883A>C p.I295L Missense 9/41 - 3
2-98451315-G-A c.878C>T p.A293V Missense 9/41 - 1
2-98451318-G-T c.875C>A p.T292K Missense 9/41 - 1
2-98451325-T-A c.868A>T p.N290Y Missense 9/41 - 1
2-98451329-TG-GT c.863_864delinsAC p.A288D Missense 9/41 - 1
2-98451338-A-G c.855T>C p.S285= Synonymous 9/41 - 1
2-98451339-GA-AG c.853_854delinsCT p.S285L Missense 9/41 - 1
2-98451339-G-C c.854C>G p.S285C Missense 9/41 - 2
2-98451347-A-G c.846T>C p.S282= Synonymous 9/41 - 1
2-98451348-C-T c.845G>A p.S282N Missense 9/41 - 1
2-98451349-T-C c.844A>G p.S282G Missense 9/41 - 3
2-98451354-C-A c.839G>T p.R280I Missense 9/41 - 1
2-98451358-T-A c.835A>T p.M279L Missense 9/41 - 2
2-98451358-T-G c.835A>C p.M279L Missense 9/41 - 2
2-98451361-C-T c.832G>A p.V278M Missense 9/41 - 1
2-98451362-TCC-GCT c.829_831delinsAGC p.G277S Missense 9/41 - 1
2-98451364-C-G c.829G>C p.G277R Missense 9/41 - 1
2-98451364-C-T c.829G>A p.G277R Missense 9/41 - 1
2-98451365-C-T c.828G>A p.K276= Synonymous 9/41 - 1
2-98451367-T-C c.826A>G p.K276E Missense 9/41 - 4
2-98451373-C-G c.820G>C p.E274Q Missense 9/41 - 1
2-98451379-G-A c.814C>T p.P272S Missense 9/41 - 1
2-98451380-A-G c.813T>C p.P271= Synonymous 9/41 - 2
2-98451382-G-A c.811C>T p.P271S Missense 9/41 - 2
2-98451384-A-G c.809T>C p.I270T Missense 9/41 - 1
2-98451388-C-A c.805G>T p.E269* Nonsense 9/41 - 1
2-98453267-A-T c.804+273T>A - IntronicSNV - 8/40 1
2-98453550-C-T c.794G>A p.R265K Missense 8/41 - 1
2-98453557-C-T c.787G>A p.G263S Missense 8/41 - 2
2-98453558-T-A c.786A>T p.G262= Synonymous 8/41 - 1
2-98453558-T-C c.786A>G p.G262= Synonymous 8/41 - 1
2-98453558-T-G c.786A>C p.G262= Synonymous 8/41 - 1
2-98453559-C-G c.785G>C p.G262A Missense 8/41 - 1
2-98453566-G-A c.778C>T p.Q260* Nonsense 8/41 - 1
2-98453569-C-G c.775G>C p.G259R Missense 8/41 - 1
2-98453570-C-T c.774G>A p.T258= Synonymous 8/41 - 1
2-98453571-G-A c.773C>T p.T258M Missense 8/41 - 4
2-98453575-G-A c.769C>T p.P257S Missense 8/41 - 2
2-98453576-G-A c.768C>T p.L256= Synonymous 8/41 - 4
2-98453581-C-A c.763G>T p.E255* Nonsense 8/41 - 1
2-98453583-A-G c.761T>C p.L254P Missense 8/41 - 1
2-98453587-G-A c.757C>T p.H253Y Missense 8/41 - 2
2-98453593-C-T c.751G>A p.D251N Missense 8/41 - 1
2-98453599-C-A c.745G>T p.G249* Nonsense 8/41 - 2
2-98453599-C-G c.745G>C p.G249R Missense 8/41 - 1
2-98453599-C-T c.745G>A p.G249R Missense 8/41 - 1
2-98453601-C-A c.743G>T p.S248I Missense 8/41 - 1
2-98453604-G-T c.740C>A p.S247Y Missense 8/41 - 1
2-98453605-A-G c.739T>C p.S247P Missense 8/41 - 1
2-98453611-T-A c.733A>T p.M245L Missense 8/41 - 1
2-98453611-T-G c.733A>C p.M245L Missense 8/41 - 1
2-98453614-C-G c.730G>C p.E244Q Missense 8/41 - 1
2-98453619-A-T c.725T>A p.V242D Missense 8/41 - 1
2-98453649-G-A c.724-29C>T - IntronicSNV - 7/40 1
2-98454572-G-A c.724-952C>T - IntronicSNV - 7/40 1
2-98454572-G-C c.724-952C>G - IntronicSNV - 7/40 1
2-98458002-T-C c.723+276A>G - IntronicSNV - 7/40 1
2-98458095-T-C c.723+183A>G - IntronicSNV - 7/40 1
2-98458280-G-C c.721C>G p.Q241E Missense 7/41 - 1
2-98458285-G-A c.716C>T p.P239L Missense 7/41 - 2
2-98458287-C-T c.714G>A p.E238= Synonymous 7/41 - 2
2-98458291-C-A c.710G>T p.S237I Missense 7/41 - 2
2-98458300-T-C c.701A>G p.N234S Missense 7/41 - 3
2-98458303-T-C c.698A>G p.H233R Missense 7/41 - 1
2-98458304-G-A c.697C>T p.H233Y Missense 7/41 - 1
2-98458307-T-C c.694A>G p.I232V Missense 7/41 - 2
2-98458312-A-T c.689T>A p.I230K Missense 7/41 - 1
2-98458315-A-G c.686T>C p.I229T Missense 7/41 - 1
2-98458321-G-T c.680C>A p.S227* Nonsense 7/41 - 1
2-98458324-A-G c.677T>C p.F226S Missense 7/41 - 2
2-98458330-CT-AA c.670_671delinsTT p.S224F Missense 7/41 - 1
2-98458333-T-C c.668A>G p.N223S Missense 7/41 - 1
2-98458335-C-A c.666G>T p.V222= Synonymous 7/41 - 1
2-98458335-C-G c.666G>C p.V222= Synonymous 7/41 - 1
2-98458335-C-T c.666G>A p.V222= Synonymous 7/41 - 1
2-98458340-G-A c.661C>T p.P221S Missense 7/41 - 2
2-98458341-G-A c.660C>T p.V220= Synonymous 7/41 - 1
2-98458341-G-C c.660C>G p.V220= Synonymous 7/41 - 1
2-98458341-G-T c.660C>A p.V220= Synonymous 7/41 - 1
2-98458345-C-T c.656G>A p.R219K Missense 7/41 - 2
2-98458359-C-A c.642G>T p.P214= Synonymous 7/41 - 1
2-98458359-C-G c.642G>C p.P214= Synonymous 7/41 - 1
2-98458359-C-T c.642G>A p.P214= Synonymous 7/41 - 1
2-98458360-G-A c.641C>T p.P214L Missense 7/41 - 2
2-98458363-CT-TG c.637_638delinsCA p.R213Q Missense 7/41 - 1
2-98458365-C-A c.636G>T p.L212F Missense 7/41 - 1
2-98458366-A-G c.635T>C p.L212S Missense 7/41 - 1
2-98458369-C-A c.632G>T p.R211L Missense 7/41 - 1
2-98458370-G-A c.631C>T p.R211* Nonsense 7/41 - 3
2-98458378-T-C c.623A>G p.N208S Missense 7/41 - 1
2-98458382-G-C c.619C>G p.P207A Missense 7/41 - 1
2-98458383-AAC-CAT c.616_618delinsATG p.V206M Missense 7/41 - 1
2-98460620-T-A c.588A>T p.V196= Synonymous 6/41 - 1
2-98460622-C-T c.586G>A p.V196I Missense 6/41 - 1
2-98460623-CCC-GCT c.583_585delinsAGC p.G195S Missense 6/41 - 1
2-98460649-A-C c.559T>G p.L187V Missense 6/41 - 1
2-98460650-A-C c.558T>G p.T186= Synonymous 6/41 - 1
2-98460650-A-G c.558T>C p.T186= Synonymous 6/41 - 2
2-98460650-A-T c.558T>A p.T186= Synonymous 6/41 - 1
2-98460653-A-C c.555T>G p.N185K Missense 6/41 - 1
2-98460653-A-T c.555T>A p.N185K Missense 6/41 - 1
2-98460658-C-T c.550G>A p.E184K Missense 6/41 - 2
2-98460665-T-A c.543A>T p.G181= Synonymous 6/41 - 1
2-98460665-T-C c.543A>G p.G181= Synonymous 6/41 - 1
2-98460665-T-G c.543A>C p.G181= Synonymous 6/41 - 1
2-98460667-C-T c.541G>A p.G181R Missense 6/41 - 1
2-98460671-T-A c.537A>T p.V179= Synonymous 6/41 - 1
2-98460671-T-C c.537A>G p.V179= Synonymous 6/41 - 1
2-98460671-T-G c.537A>C p.V179= Synonymous 6/41 - 1
2-98460675-C-A c.533G>T p.R178I Missense 6/41 - 1
2-98460679-C-T c.529G>A p.A177T Missense 6/41 - 1
2-98460682-G-A c.526C>T p.L176F Missense 6/41 - 1
2-98460685-A-C c.523T>G p.F175V Missense 6/41 - 1
2-98460682-GA-G c.525del p.A177Qfs*3 Frameshift 6/41 - 1
2-98460691-C-A c.517G>T p.V173L Missense 6/41 - 1
2-98460695-A-C c.513T>G p.F171L Missense 6/41 - 1
2-98460695-A-T c.513T>A p.F171L Missense 6/41 - 1
2-98460697-A-G c.511T>C p.F171L Missense 6/41 - 1
2-98460700-A-G c.508T>C p.S170P Missense 6/41 - 1
2-98460703-T-C c.505A>G p.T169A Missense 6/41 - 1
2-98460715-G-T c.493C>A p.P165T Missense 6/41 - 1
2-98460718-G-A c.490C>T p.L164F Missense 6/41 - 2
2-98460721-T-A c.487A>T p.I163F Missense 6/41 - 1
2-98460855-G-A c.484-131C>T - IntronicSNV - 5/40 2
2-98475482-A-G c.483+285T>C - IntronicSNV - 5/40 1
2-98475769-T-C c.481A>G p.R161G Missense 5/41 - 4
2-98475772-T-A c.478A>T p.N160Y Missense 5/41 - 1
2-98475775-G-A c.475C>T p.Q159* Nonsense 5/41 - 1
2-98475778-A-G c.472T>C p.F158L Missense 5/41 - 1
2-98475793-A-T c.457T>A p.F153I Missense 5/41 - 1
2-98475801-G-A c.449C>T p.T150I Missense 5/41 - 1
2-98475809-A-C c.441T>G p.S147= Synonymous 5/41 - 1
2-98475809-A-G c.441T>C p.S147= Synonymous 5/41 - 1
2-98475809-A-T c.441T>A p.S147= Synonymous 5/41 - 1
2-98475811-A-C c.439T>G p.S147A Missense 5/41 - 1
2-98475814-T-C c.436A>G p.I146V Missense 5/41 - 1
2-98475817-A-T c.433T>A p.S145T Missense 5/41 - 2
2-98475818-T-A c.432A>T p.V144= Synonymous 5/41 - 1
2-98475818-T-C c.432A>G p.V144= Synonymous 5/41 - 1
2-98475818-T-G c.432A>C p.V144= Synonymous 5/41 - 1
2-98475820-C-G c.430G>C p.V144L Missense 5/41 - 1
2-98475827-A-G c.423T>C p.I141= Synonymous 5/41 - 1
2-98475827-A-T c.423T>A p.I141= Synonymous 5/41 - 1
2-98475831-G-A c.419C>T p.T140M Missense 5/41 - 1
2-98475831-G-T c.419C>A p.T140K Missense 5/41 - 1
2-98475832-T-C c.418A>G p.T140A Missense 5/41 - 5
2-98475835-C-A c.415G>T p.E139* Nonsense 5/41 - 2
2-98475838-C-T c.412G>A p.E138K Missense 5/41 - 1
2-98475842-A-C c.408T>G p.S136R Missense 5/41 - 1
2-98475842-A-G c.408T>C p.S136= Synonymous 5/41 - 1
2-98475846-G-A c.404C>T p.P135L Missense 5/41 - 2
2-98475847-G-A c.403C>T p.P135S Missense 5/41 - 1
2-98475847-G-T c.403C>A p.P135T Missense 5/41 - 1
2-98475849-T-C c.401A>G p.N134S Missense 5/41 - 1
2-98475850-T-C c.400A>G p.N134D Missense 5/41 - 2
2-98475851-A-G c.399T>C p.H133= Synonymous 5/41 - 1
2-98475858-T-A c.392A>T p.Y131F Missense 5/41 - 1
2-98475862-C-T c.388G>A p.V130I Missense 5/41 - 1
2-98475876-G-C c.374C>G p.P125R Missense 5/41 - 1
2-98475878-C-A c.372G>T p.M124I Missense 5/41 - 1
2-98475878-C-G c.372G>C p.M124I Missense 5/41 - 1
2-98475878-C-T c.372G>A p.M124I Missense 5/41 - 2
2-98475882-C-G c.368G>C p.G123A Missense 5/41 - 1
2-98475883-C-G c.367G>C p.G123R Missense 5/41 - 1
2-98475883-C-T c.367G>A p.G123R Missense 5/41 - 1
2-98475979-C-T c.360-89G>A - IntronicSNV - 4/40 1
2-98481003-A-T c.360-5113T>A - IntronicSNV - 4/40 1
2-98481188-A-C c.360-5298T>G - IntronicSNV - 4/40 1
2-98481711-T-C c.360-5821A>G - IntronicSNV - 4/40 1
2-98499812-A-G c.359+4703T>C - IntronicSNV - 4/40 1
2-98500217-T-C c.359+4298A>G - IntronicSNV - 4/40 1
2-98504514-C-T c.359+1G>A - IntronicSNV - 4/40 1
2-98504517-T-C c.357A>G p.E119= Synonymous 4/41 - 1
2-98504518-TC-GA c.355_356inv p.E119S Missense 4/41 - 1
2-98504522-G-A c.352C>T p.H118Y Missense 4/41 - 1
2-98504523-G-A c.351C>T p.F117= Synonymous 4/41 - 1
2-98504524-AA-GC c.349_350delinsGC p.F117A Missense 4/41 - 1
2-98504524-A-G c.350T>C p.F117S Missense 4/41 - 1
2-98504533-A-G c.341T>C p.M114T Missense 4/41 - 2
2-98504541-C-T c.333G>A p.E111= Synonymous 4/41 - 2
2-98504542-T-C c.332A>G p.E111G Missense 4/41 - 1
2-98504547-TC-AT c.326_327delinsAT p.R109H Missense 4/41 - 1
2-98504548-C-T c.326G>A p.R109Q Missense 4/41 - 4
2-98504550-T-C c.324A>G p.I108M Missense 4/41 - 1
2-98504555-G-A c.319C>T p.P107S Missense 4/41 - 4
2-98504559-G-A c.315C>T p.C105= Synonymous 4/41 - 2
2-98504560-C-A c.314G>T p.C105F Missense 4/41 - 1
2-98504566-C-A c.308G>T p.G103V Missense 4/41 - 1
2-98504566-C-G c.308G>C p.G103A Missense 4/41 - 1
2-98504567-C-A c.307G>T p.G103W Missense 4/41 - 1
2-98504569-C-A c.305G>T p.R102L Missense 4/41 - 2
2-98504569-C-T c.305G>A p.R102Q Missense 4/41 - 1
2-98504570-G-A c.304C>T p.R102W Missense 4/41 - 2
2-98504572-GT-G c.302del p.Y101Sfs*43 Frameshift 4/41 - 1
2-98504574-G-A c.300C>T p.L100= Synonymous 4/41 - 1
2-98504575-A-C c.299T>G p.L100R Missense 4/41 - 1
2-98504578-GA-CG c.295_296delinsCG p.S99R Missense 4/41 - 1
2-98504580-TAT-AAA c.292_294delinsTTT p.I98F Missense 4/41 - 1
2-98511468-G-T c.291-6885C>A - IntronicSNV - 3/40 1
2-98520148-G-GA c.290+4972_290+4973insT - IntronicInsertion - 3/40 1
2-98524859-A-C c.290+262T>G - IntronicSNV - 3/40 2
2-98525107-T-A c.290+14A>T - IntronicSNV - 3/40 7
2-98525107-T-C c.290+14A>G - IntronicSNV - 3/40 9
2-98525124-T-C c.287A>G p.K96R Missense 3/41 - 1
2-98525129-C-T c.282G>A p.Q94= Synonymous 3/41 - 1
2-98525131-G-A c.280C>T p.Q94* Nonsense 3/41 - 1
2-98525131-G-C c.280C>G p.Q94E Missense 3/41 - 1
2-98525139-C-A c.272G>T p.S91I Missense 3/41 - 3
2-98525139-C-T c.272G>A p.S91N Missense 3/41 - 1
2-98525141-G-A c.270C>T p.L90= Synonymous 3/41 - 2
2-98525143-G-A c.268C>T p.L90F Missense 3/41 - 1
2-98525144-TC-GT c.266_267delinsAC p.G89D Missense 3/41 - 1
2-98525145-C-T c.266G>A p.G89E Missense 3/41 - 1
2-98525148-A-C c.263T>G p.L88R Missense 3/41 - 1
2-98525148-A-G c.263T>C p.L88P Missense 3/41 - 5
2-98543814-C-T c.249+75G>A - IntronicSNV - 2/40 1
2-98543889-C-A c.249G>T p.Q83H Missense 2/41 - 2
2-98543889-C-G c.249G>C p.Q83H Missense 2/41 - 2
2-98543899-C-T c.239G>A p.G80E Missense 2/41 - 3
2-98543902-C-T c.236G>A p.G79E Missense 2/41 - 2
2-98543907-ATC-CCA c.229_231delinsTGG p.D77W Missense 2/41 - 1
2-98543909-C-T c.229G>A p.D77N Missense 2/41 - 1
2-98543913-ACG-CCA c.223_225delinsTGG p.R75W Missense 2/41 - 1
2-98543913-A-T c.225T>A p.R75= Synonymous 2/41 - 1
2-98543914-C-T c.224G>A p.R75H Missense 2/41 - 3
2-98543915-G-A c.223C>T p.R75C Missense 2/41 - 2
2-98543916-C-T c.222G>A p.L74= Synonymous 2/41 - 1
2-98543918-G-T c.220C>A p.L74M Missense 2/41 - 1
2-98543920-A-G c.218T>C p.V73A Missense 2/41 - 1
2-98543921-C-T c.217G>A p.V73I Missense 2/41 - 1
2-98543923-T-G c.215A>C p.E72A Missense 2/41 - 1
2-98543924-C-A c.214G>T p.E72* Nonsense 2/41 - 1
2-98543924-C-G c.214G>C p.E72Q Missense 2/41 - 6
2-98543926-A-G c.212T>C p.I71T Missense 2/41 - 1
2-98543928-T-C c.210A>G p.I70M Missense 2/41 - 1
2-98543930-T-C c.208A>G p.I70V Missense 2/41 - 1
2-98543933-T-G c.205A>C p.S69R Missense 2/41 - 1
2-98543934-C-G c.204G>C p.E68D Missense 2/41 - 1
2-98543934-C-T c.204G>A p.E68= Synonymous 2/41 - 1
2-98543938-G-C c.200C>G p.S67* Nonsense 2/41 - 1
2-98543938-G-T c.200C>A p.S67* Nonsense 2/41 - 1
2-98543941-T-A c.197A>T p.Q66L Missense 2/41 - 2
2-98543945-C-T c.193G>A p.V65I Missense 2/41 - 1
2-98543946-G-A c.192C>T p.F64= Synonymous 2/41 - 3
2-98544058-T-C c.188-108A>G - IntronicSNV - 1/40 1
2-98549304-A-AAT c.188-5356_188-5355dup - IntronicInsertion - 1/40 1
2-98549312-G-GTTAAACAAAGATAAACTGTTTAA c.188-5363_188-5362insTTAAACAGTTTATCTTTGTTTAA - IntronicInsertion - 1/40 1
2-98549312-G-GTTCAACAAAGATAAACTGTTTAA c.188-5363_188-5362insTTAAACAGTTTATCTTTGTTGAA - IntronicInsertion - 1/40 1
2-98549312-G-GTTTAA c.188-5363_188-5362insTTAAA - IntronicInsertion - 1/40 1
2-98557575-G-T c.188-13625C>A - IntronicSNV - 1/40 1
2-98560592-C-G c.188-16642G>C - IntronicSNV - 1/40 1
2-98561153-C-A c.188-17203G>T - IntronicSNV - 1/40 1
2-98564672-T-A c.188-20722A>T - IntronicSNV - 1/40 1
2-98583979-GA-G c.187+27959del - IntronicDeletion - 1/40 1
2-98587175-G-A c.187+24764C>T - IntronicSNV - 1/40 1
2-98587414-A-C c.187+24525T>G - IntronicSNV - 1/40 1
2-98589049-C-T c.187+22890G>A - IntronicSNV - 1/40 1
2-98592496-C-G c.187+19443G>C - IntronicSNV - 1/40 1
2-98593085-C-A c.187+18854G>T - IntronicSNV - 1/40 1
2-98598847-T-C c.187+13092A>G - IntronicSNV - 1/40 1
2-98600082-C-A c.187+11857G>T - IntronicSNV - 1/40 1
2-98606770-T-A c.187+5169A>T - IntronicSNV - 1/40 1
2-98606770-T-C c.187+5169A>G - IntronicSNV - 1/40 1
2-98611701-G-C c.187+238C>G - IntronicSNV - 1/40 1
2-98611833-T-C c.187+106A>G - IntronicSNV - 1/40 1
2-98611939-C-G c.187G>C p.A63P Missense 1/41 - 1
2-98611941-T-C c.185A>G p.E62G Missense 1/41 - 1
2-98611942-C-A c.184G>T p.E62* Nonsense 1/41 - 1
2-98611944-T-G c.182A>C p.K61T Missense 1/41 - 1
2-98611946-C-A c.180G>T p.E60D Missense 1/41 - 1
2-98611947-T-C c.179A>G p.E60G Missense 1/41 - 1
2-98611950-G-C c.176C>G p.A59G Missense 1/41 - 1
2-98611952-CCG-GAT c.172_174delinsATC p.R58I Missense 1/41 - 1
2-98611954-G-A c.172C>T p.R58W Missense 1/41 - 1
2-98611956-G-A c.170C>T p.A57V Missense 1/41 - 2
2-98611957-C-G c.169G>C p.A57P Missense 1/41 - 1
2-98611959-G-A c.167C>T p.A56V Missense 1/41 - 2
2-98611970-G-T c.156C>A p.L52= Synonymous 1/41 - 1
2-98611971-A-G c.155T>C p.L52P Missense 1/41 - 1
2-98611978-T-TC c.147dup p.M50Dfs*28 Frameshift 1/41 - 1
2-98611989-A-T c.137T>A p.L46Q Missense 1/41 - 1
2-98611991-C-A c.135G>T p.A45= Synonymous 1/41 - 1
2-98611991-C-G c.135G>C p.A45= Synonymous 1/41 - 1
2-98611991-CGC-ATA c.133_135delinsTAT p.A45Y Missense 1/41 - 1
2-98611991-C-T c.135G>A p.A45= Synonymous 1/41 - 1
2-98611992-GC-CA c.133_134delinsTG p.A45W Missense 1/41 - 1
2-98611992-GC-CT c.133_134delinsAG p.A45R Missense 1/41 - 1
2-98611992-GC-TA c.133_134delinsTA p.A45* Nonsense 1/41 - 1
2-98611992-G-T c.134C>A p.A45E Missense 1/41 - 1
2-98611993-C-G c.133G>C p.A45P Missense 1/41 - 1
2-98611993-C-T c.133G>A p.A45T Missense 1/41 - 1
2-98611994-G-A c.132C>T p.G44= Synonymous 1/41 - 4
2-98611994-G-C c.132C>G p.G44= Synonymous 1/41 - 11
2-98611994-G-T c.132C>A p.G44= Synonymous 1/41 - 13
2-98612007-G-C c.119C>G p.A40G Missense 1/41 - 2
2-98612009-GG-CT c.116_117delinsAG p.A39E Missense 1/41 - 1
2-98612010-G-A c.116C>T p.A39V Missense 1/41 - 3
2-98612011-C-T c.115G>A p.A39T Missense 1/41 - 1
2-98612013-G-A c.113C>T p.A38V Missense 1/41 - 3
2-98612013-G-C c.113C>G p.A38G Missense 1/41 - 1
2-98612014-C-T c.112G>A p.A38T Missense 1/41 - 1
2-98612018-CCG-GCT c.106_108delinsAGC p.R36S Missense 1/41 - 1
2-98612018-C-T c.108G>A p.R36= Synonymous 1/41 - 1
2-98612022-GG-CC c.103_104inv p.P35G Missense 1/41 - 1
2-98612023-G-A c.103C>T p.P35S Missense 1/41 - 1
2-98612025-C-T c.101G>A p.G34D Missense 1/41 - 1
2-98612026-C-T c.100G>A p.G34S Missense 1/41 - 1
2-98612029-C-T c.97G>A p.G33R Missense 1/41 - 1
2-98612036-G-A c.90C>T p.A30= Synonymous 1/41 - 2
2-98612036-G-C c.90C>G p.A30= Synonymous 1/41 - 2
2-98612036-GG-CT c.89_90delinsAG p.A30E Missense 1/41 - 1
2-98612036-G-T c.90C>A p.A30= Synonymous 1/41 - 2
2-98612038-C-G c.88G>C p.A30P Missense 1/41 - 2
2-98612039-GG-CT c.86_87delinsAG p.A29E Missense 1/41 - 2
2-98612040-G-A c.86C>T p.A29V Missense 1/41 - 4
2-98612040-GC-AT c.85_86delinsAT p.A29I Missense 1/41 - 2
2-98612040-GC-CA c.85_86delinsTG p.A29C Missense 1/41 - 2
2-98612040-GC-CG c.85_86delinsCG p.A29R Missense 1/41 - 1
2-98612040-G-T c.86C>A p.A29D Missense 1/41 - 1
2-98612041-C-A c.85G>T p.A29S Missense 1/41 - 2
2-98612041-C-G c.85G>C p.A29P Missense 1/41 - 1
2-98612043-GC-CT c.82_83delinsAG p.A28R Missense 1/41 - 1
2-98612043-GC-TA c.82_83delinsTA p.A28* Nonsense 1/41 - 1
2-98612043-G-T c.83C>A p.A28E Missense 1/41 - 1
2-98612044-C-A c.82G>T p.A28S Missense 1/41 - 1
2-98612052-A-G c.74T>C p.L25P Missense 1/41 - 1
2-98612057-G-A c.69C>T p.A23= Synonymous 1/41 - 1
2-98612057-GGC-CAT c.67_69delinsATG p.A23M Missense 1/41 - 2
2-98612058-GC-AA c.67_68delinsTT p.A23F Missense 1/41 - 1
2-98612063-G-A c.63C>T p.A21= Synonymous 1/41 - 4
2-98612063-G-C c.63C>G p.A21= Synonymous 1/41 - 3
2-98612063-G-T c.63C>A p.A21= Synonymous 1/41 - 3
2-98612064-G-T c.62C>A p.A21D Missense 1/41 - 1
2-98612069-C-A c.57G>T p.T19= Synonymous 1/41 - 1
2-98612070-G-A c.56C>T p.T19M Missense 1/41 - 1
2-98612072-G-A c.54C>T p.S18= Synonymous 1/41 - 2
2-98612073-GA-CC c.52_53delinsGG p.S18G Missense 1/41 - 1
2-98612074-A-G c.52T>C p.S18P Missense 1/41 - 2
2-98612078-GGC-TTA c.46_48delinsTAA p.A16* Nonsense 1/41 - 2
2-98612078-GGC-TTG c.46_48delinsCAA p.A16Q Missense 1/41 - 2
2-98612079-GC-TA c.46_47delinsTA p.A16Y Missense 1/41 - 1
2-98612081-GGC-TTA c.43_45delinsTAA p.A15* Nonsense 1/41 - 1
2-98612085-G-C c.41C>G p.T14S Missense 1/41 - 1
2-98612086-T-A c.40A>T p.T14S Missense 1/41 - 1
2-98612088-G-C c.38C>G p.T13S Missense 1/41 - 1
2-98612089-T-A c.37A>T p.T13S Missense 1/41 - 1
2-98612090-GGC-TTG c.34_36delinsCAA p.A12Q Missense 1/41 - 1
2-98612091-G-A c.35C>T p.A12V Missense 1/41 - 1
2-98612092-C-T c.34G>A p.A12T Missense 1/41 - 5
2-98612109-C-T c.17G>A p.G6E Missense 1/41 - 1
2-98612110-C-G c.16G>C p.G6R Missense 1/41 - 1
2-98612110-C-T c.16G>A p.G6R Missense 1/41 - 1
2-98612111-C-A c.15G>T p.A5= Synonymous 1/41 - 2
2-98612111-C-G c.15G>C p.A5= Synonymous 1/41 - 2
2-98612111-C-T c.15G>A p.A5= Synonymous 1/41 - 2
2-98612112-G-A c.14C>T p.A5V Missense 1/41 - 1
2-98612114-C-A c.12G>T p.R4= Synonymous 1/41 - 1
2-98612114-C-G c.12G>C p.R4= Synonymous 1/41 - 1
2-98612114-C-T c.12G>A p.R4= Synonymous 1/41 - 1
2-98612116-G-T c.10C>A p.R4= Synonymous 1/41 - 1
2-98612122-C-G c.4G>C p.G2R Missense 1/41 - 1
2-98612122-C-T c.4G>A p.G2R Missense 1/41 - 1
2-98612125-T-C c.1A>G p.M1? Missense 1/41 - 1
2-98612260-T-C c.-135A>G - 5-UTRSNV 1/41 - 2
2-98612266-A-G c.-141T>C - 5-UTRSNV 1/41 - 2