KAT2A

KAT2A lysine acetyltransferase 2A

Annotation transcript: NM_021078.3

717 unique variant annotations were identified in 305 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
17-40265583-C-A c.*84G>T - 3-UTRSNV 18/18 - 1
17-40265583-C-T c.*84G>A - 3-UTRSNV 18/18 - 1
17-40265675-C-G c.2506G>C p.D836H Missense 18/18 - 1
17-40265685-T-A c.2496A>T p.G832= Synonymous 18/18 - 1
17-40265685-T-C c.2496A>G p.G832= Synonymous 18/18 - 1
17-40265685-T-G c.2496A>C p.G832= Synonymous 18/18 - 1
17-40265686-CC-GT c.2494_2495delinsAC p.G832T Missense 18/18 - 1
17-40265686-C-G c.2495G>C p.G832A Missense 18/18 - 3
17-40265690-C-T c.2491G>A p.E831K Missense 18/18 - 1
17-40265698-T-G c.2483A>C p.K828T Missense 18/18 - 2
17-40265706-G-A c.2475C>T p.F825= Synonymous 18/18 - 1
17-40265704-TAGA-T c.2474_2476del p.F825del InFrameDeletion 18/18 - 1
17-40265722-G-A c.2459C>T p.A820V Missense 18/18 - 1
17-40265723-C-T c.2458G>A p.A820T Missense 18/18 - 4
17-40265724-G-A c.2457C>T p.S819= Synonymous 18/18 - 1
17-40265738-A-C c.2443T>G p.C815G Missense 18/18 - 1
17-40265744-C-T c.2437G>A p.E813K Missense 18/18 - 1
17-40265751-C-A c.2430G>T p.P810= Synonymous 18/18 - 3
17-40265751-C-G c.2430G>C p.P810= Synonymous 18/18 - 3
17-40265751-C-T c.2430G>A p.P810= Synonymous 18/18 - 4
17-40265752-G-A c.2429C>T p.P810L Missense 18/18 - 1
17-40265754-G-A c.2427C>T p.P809= Synonymous 18/18 - 1
17-40265751-C-CG c.2429dup p.D811Gfs*26 Frameshift 18/18 - 2
17-40265751-CG-C c.2429del p.P810Rfs*37 Frameshift 18/18 - 1
17-40265758-T-C c.2423A>G p.N808S Missense 18/18 - 1
17-40265758-TT-AA c.2422_2423inv p.N808F Missense 18/18 - 1
17-40265760-G-C c.2421C>G p.Y807* Nonsense 18/18 - 1
17-40265760-G-T c.2421C>A p.Y807* Nonsense 18/18 - 1
17-40265765-C-T c.2416G>A p.E806K Missense 18/18 - 1
17-40265766-G-A c.2415C>T p.R805= Synonymous 18/18 - 3
17-40265766-G-C c.2415C>G p.R805= Synonymous 18/18 - 1
17-40265766-G-T c.2415C>A p.R805= Synonymous 18/18 - 1
17-40265767-C-T c.2414G>A p.R805H Missense 18/18 - 4
17-40265778-G-A c.2403C>T p.I801= Synonymous 18/18 - 1
17-40265778-G-T c.2403C>A p.I801= Synonymous 18/18 - 1
17-40265785-C-T c.2396G>A p.R799Q Missense 18/18 - 4
17-40265786-G-A c.2395C>T p.R799W Missense 18/18 - 1
17-40265795-C-T c.2386G>A p.D796N Missense 18/18 - 2
17-40265797-G-A c.2384C>T p.A795V Missense 18/18 - 1
17-40265801-C-A c.2380G>T p.V794L Missense 18/18 - 1
17-40265811-CC-AT c.2369_2370delinsAT p.R790H Missense 18/18 - 1
17-40265817-C-A c.2364G>T p.V788= Synonymous 18/18 - 2
17-40265817-C-G c.2364G>C p.V788= Synonymous 18/18 - 1
17-40265817-C-T c.2364G>A p.V788= Synonymous 18/18 - 1
17-40265819-AC-A c.2362del p.V788* Frameshift 18/18 - 1
17-40265821-T-C c.2360A>G p.Y787C Missense 18/18 - 1
17-40265825-A-C c.2356T>G p.Y786D Missense 18/18 - 1
17-40265827-C-T c.2354G>A p.R785H Missense 18/18 - 1
17-40265828-G-A c.2353C>T p.R785C Missense 18/18 - 3
17-40265833-C-T c.2348G>A p.R783Q Missense 18/18 - 2
17-40265834-G-A c.2347C>T p.R783* Nonsense 18/18 - 1
17-40265837-G-A c.2344C>T p.L782= Synonymous 18/18 - 1
17-40265837-G-T c.2344C>A p.L782M Missense 18/18 - 2
17-40265840-G-A c.2341C>T p.R781W Missense 18/18 - 2
17-40265843-C-T c.2338G>A p.E780K Missense 18/18 - 1
17-40265844-A-C c.2337T>G p.T779= Synonymous 18/18 - 1
17-40265844-A-G c.2337T>C p.T779= Synonymous 18/18 - 1
17-40265844-A-T c.2337T>A p.T779= Synonymous 18/18 - 1
17-40265845-G-C c.2336C>G p.T779S Missense 18/18 - 1
17-40265846-T-A c.2335A>T p.T779S Missense 18/18 - 1
17-40265907-C-A c.2321-47G>T - IntronicSNV - 17/17 1
17-40265907-C-T c.2321-47G>A - IntronicSNV - 17/17 1
17-40265977-G-A c.2320+41C>T - IntronicSNV - 17/17 1
17-40266018-C-CG c.2319_2320insC p.D774Rfs*7 SpliceDonorInsertion 17/18 - 1
17-40266018-C-CT c.2319_2320insA p.D774Rfs*7 SpliceDonorInsertion 17/18 - 1
17-40266018-C-CA c.2319dup p.D774* SpliceDonorInsertion 17/18 - 1
17-40266028-G-A c.2310C>T p.R770= Synonymous 17/18 - 1
17-40266029-C-T c.2309G>A p.R770H Missense 17/18 - 1
17-40266030-G-A c.2308C>T p.R770C Missense 17/18 - 2
17-40266034-G-A c.2304C>T p.V768= Synonymous 17/18 - 1
17-40266036-C-A c.2302G>T p.V768F Missense 17/18 - 1
17-40266039-C-T c.2299G>A p.E767K Missense 17/18 - 1
17-40266052-G-A c.2286C>T p.A762= Synonymous 17/18 - 1
17-40266055-C-T c.2283G>A p.E761= Synonymous 17/18 - 1
17-40266053-GCCT-G c.2282_2284del p.E761del InFrameDeletion 17/18 - 1
17-40266057-C-T c.2281G>A p.E761K Missense 17/18 - 1
17-40266058-C-T c.2280G>A p.S760= Synonymous 17/18 - 1
17-40266059-G-A c.2279C>T p.S760L Missense 17/18 - 2
17-40266069-C-T c.2269G>A p.V757M Missense 17/18 - 1
17-40266073-C-T c.2265G>A p.E755= Synonymous 17/18 - 1
17-40266089-G-A c.2249C>T p.A750V Missense 17/18 - 2
17-40266100-A-T c.2238T>A p.S746= Synonymous 17/18 - 1
17-40266241-A-T c.2231T>A p.I744N Missense 16/18 - 2
17-40266251-G-A c.2221C>T p.L741= Synonymous 16/18 - 1
17-40266262-AG-GC c.2209_2210delinsGC p.L737A Missense 16/18 - 1
17-40266263-G-C c.2209C>G p.L737V Missense 16/18 - 1
17-40266270-G-A c.2202C>T p.Y734= Synonymous 16/18 - 1
17-40266271-TA-GC c.2200_2201delinsGC p.Y734A Missense 16/18 - 1
17-40266275-G-T c.2197C>A p.L733I Missense 16/18 - 1
17-40266281-C-T c.2191G>A p.D731N Missense 16/18 - 4
17-40266290-T-TA c.2181_2182insT p.K728* Nonsense 16/18 - 1
17-40266292-A-G c.2180T>C p.L727P Missense 16/18 - 3
17-40266373-C-T c.2171+3G>A - IntronicSNV - 15/17 1
17-40266386-T-TA c.2160_2161insT p.K721* Nonsense 15/18 - 1
17-40266387-C-T c.2160G>A p.G720= Synonymous 15/18 - 1
17-40266391-A-ACTGCAGGGCGCAGTGAGGGCAGGAGCAGGTGTGGGG c.2155_2156insCCCCACACCTGCTCCTGCCCTCACTGCGCCCTGCAG p.L719delinsSPHLLLPSLRPAV MultiAAMissense 15/18 - 1
17-40266392-A-G c.2155T>C p.L719= Synonymous 15/18 - 5
17-40266403-C-T c.2144G>A p.G715D Missense 15/18 - 2
17-40266505-T-C c.2134+3A>G - IntronicSNV - 14/17 1
17-40266507-C-A c.2134+1G>T - IntronicSNV - 14/17 1
17-40266507-C-T c.2134+1G>A - IntronicSNV - 14/17 1
17-40266508-G-A c.2134C>T p.R712* Nonsense 14/18 - 5
17-40266520-C-T c.2122G>A p.V708I Missense 14/18 - 1
17-40266532-G-A c.2110C>T p.P704S Missense 14/18 - 1
17-40266534-GA-G c.2108del p.I703Tfs*25 Frameshift 14/18 - 1
17-40266539-C-T c.2103G>A p.R701= Synonymous 14/18 - 2
17-40266541-T-G c.2101A>C p.R701= Synonymous 14/18 - 1
17-40266544-C-T c.2098G>A p.V700M Missense 14/18 - 1
17-40266545-G-A c.2097C>T p.G699= Synonymous 14/18 - 5
17-40266545-G-C c.2097C>G p.G699= Synonymous 14/18 - 1
17-40266545-G-T c.2097C>A p.G699= Synonymous 14/18 - 2
17-40266550-C-A c.2092G>T p.E698* Nonsense 14/18 - 1
17-40266554-G-A c.2088C>T p.F696= Synonymous 14/18 - 2
17-40266558-C-T c.2084G>A p.C695Y Missense 14/18 - 1
17-40266566-C-A c.2076G>T p.G692= Synonymous 14/18 - 1
17-40266566-C-T c.2076G>A p.G692= Synonymous 14/18 - 1
17-40266569-C-A c.2073G>T p.P691= Synonymous 14/18 - 1
17-40266569-C-T c.2073G>A p.P691= Synonymous 14/18 - 1
17-40266570-G-A c.2072C>T p.P691L Missense 14/18 - 1
17-40266571-G-C c.2071C>G p.P691A Missense 14/18 - 1
17-40266576-A-C c.2066T>G p.V689G Missense 14/18 - 1
17-40266578-C-G c.2064G>C p.K688N Missense 14/18 - 1
17-40266583-G-A c.2059C>T p.R687C Missense 14/18 - 1
17-40266590-G-A c.2052C>T p.A684= Synonymous 14/18 - 3
17-40266600-C-A c.2042G>T p.R681L Missense 14/18 - 1
17-40266600-C-T c.2042G>A p.R681H Missense 14/18 - 3
17-40266601-G-A c.2041C>T p.R681C Missense 14/18 - 1
17-40266601-G-C c.2041C>G p.R681G Missense 14/18 - 1
17-40266613-T-A c.2029A>T p.K677* Nonsense 14/18 - 1
17-40266617-G-A c.2025C>T p.I675= Synonymous 14/18 - 2
17-40266617-G-T c.2025C>A p.I675= Synonymous 14/18 - 2
17-40266620-G-A c.2022C>T p.I674= Synonymous 14/18 - 4
17-40266620-G-T c.2022C>A p.I674= Synonymous 14/18 - 3
17-40266919-C-A c.2010G>T p.K670N Missense 13/18 - 1
17-40266919-C-G c.2010G>C p.K670N Missense 13/18 - 1
17-40266925-G-C c.2004C>G p.I668M Missense 13/18 - 1
17-40266928-G-A c.2001C>T p.I667= Synonymous 13/18 - 3
17-40266936-A-G c.1993T>C p.S665P Missense 13/18 - 2
17-40266939-G-A c.1990C>T p.L664= Synonymous 13/18 - 3
17-40266942-C-T c.1987G>A p.E663K Missense 13/18 - 3
17-40266944-G-A c.1985C>T p.T662M Missense 13/18 - 3
17-40266956-C-T c.1973G>A p.R658H Missense 13/18 - 1
17-40266957-G-C c.1972C>G p.R658G Missense 13/18 - 1
17-40266959-G-A c.1970C>T p.P657L Missense 13/18 - 1
17-40266961-A-C c.1968T>G p.N656K Missense 13/18 - 1
17-40266961-A-T c.1968T>A p.N656K Missense 13/18 - 1
17-40266975-C-T c.1954G>A p.E652K Missense 13/18 - 1
17-40266982-CG-GA c.1946_1947delinsTC p.T649I Missense 13/18 - 1
17-40266986-G-A c.1943C>T p.A648V Missense 13/18 - 1
17-40266989-CCCT-C c.1937_1939del p.E646del InFrameDeletion 13/18 - 1
17-40266993-C-T c.1936G>A p.E646K Missense 13/18 - 1
17-40266994-G-A c.1935C>T p.Y645= Synonymous 13/18 - 1
17-40266995-TA-GC c.1933_1934delinsGC p.Y645A Missense 13/18 - 7
17-40267007-T-A c.1922A>T p.Y641F Missense 13/18 - 1
17-40267007-T-C c.1922A>G p.Y641C Missense 13/18 - 1
17-40267008-A-T c.1921T>A p.Y641N Missense 13/18 - 1
17-40267018-G-A c.1911C>T p.R637= Synonymous 13/18 - 1
17-40267018-G-C c.1911C>G p.R637= Synonymous 13/18 - 1
17-40267018-G-T c.1911C>A p.R637= Synonymous 13/18 - 1
17-40267019-C-T c.1910G>A p.R637H Missense 13/18 - 1
17-40267020-G-A c.1909C>T p.R637C Missense 13/18 - 1
17-40267022-C-A c.1907G>T p.S636I Missense 13/18 - 2
17-40267024-C-A c.1905G>T p.K635N Missense 13/18 - 2
17-40267024-C-G c.1905G>C p.K635N Missense 13/18 - 3
17-40267026-T-C c.1903A>G p.K635E Missense 13/18 - 2
17-40267029-G-C c.1900C>G p.P634A Missense 13/18 - 1
17-40267030-C-A c.1899G>T p.V633= Synonymous 13/18 - 1
17-40267030-C-G c.1899G>C p.V633= Synonymous 13/18 - 1
17-40267030-C-T c.1899G>A p.V633= Synonymous 13/18 - 1
17-40267032-C-T c.1897G>A p.V633M Missense 13/18 - 1
17-40267034-T-C c.1895A>G p.K632R Missense 13/18 - 1
17-40267034-TT-GC c.1894_1895delinsGC p.K632A Missense 13/18 - 1
17-40267035-T-A c.1894A>T p.K632* Nonsense 13/18 - 1
17-40267036-G-C c.1893C>G p.I631M Missense 13/18 - 1
17-40267044-T-C c.1885A>G p.K629E Missense 13/18 - 1
17-40267753-G-C c.1863C>G p.Y621* Nonsense 12/18 - 1
17-40267753-G-T c.1863C>A p.Y621* Nonsense 12/18 - 1
17-40267754-TA-GC c.1861_1862delinsGC p.Y621A Missense 12/18 - 1
17-40267756-G-A c.1860C>T p.G620= Synonymous 12/18 - 1
17-40267756-G-C c.1860C>G p.G620= Synonymous 12/18 - 1
17-40267756-G-T c.1860C>A p.G620= Synonymous 12/18 - 1
17-40267764-C-T c.1852G>A p.A618T Missense 12/18 - 2
17-40267771-G-A c.1845C>T p.D615= Synonymous 12/18 - 1
17-40267773-C-T c.1843G>A p.D615N Missense 12/18 - 1
17-40267774-G-A c.1842C>T p.A614= Synonymous 12/18 - 1
17-40267774-G-C c.1842C>G p.A614= Synonymous 12/18 - 1
17-40267774-G-T c.1842C>A p.A614= Synonymous 12/18 - 1
17-40267775-G-A c.1841C>T p.A614V Missense 12/18 - 2
17-40267777-G-A c.1839C>T p.Y613= Synonymous 12/18 - 2
17-40267786-G-A c.1830C>T p.F610= Synonymous 12/18 - 1
17-40267789-G-A c.1827C>T p.Y609= Synonymous 12/18 - 1
17-40267816-C-A c.1800G>T p.E600D Missense 12/18 - 2
17-40267816-C-G c.1800G>C p.E600D Missense 12/18 - 2
17-40267818-C-T c.1798G>A p.E600K Missense 12/18 - 1
17-40267819-C-T c.1797G>A p.K599= Synonymous 12/18 - 1
17-40267826-T-A c.1790A>T p.H597L Missense 12/18 - 1
17-40267831-C-A c.1785G>T p.M595I Missense 12/18 - 1
17-40267831-C-G c.1785G>C p.M595I Missense 12/18 - 1
17-40267831-C-T c.1785G>A p.M595I Missense 12/18 - 2
17-40267837-G-T c.1779C>A p.H593Q Missense 12/18 - 1
17-40267838-T-A c.1778A>T p.H593L Missense 12/18 - 1
17-40267839-G-A c.1777C>T p.H593Y Missense 12/18 - 2
17-40269046-C-T c.1764+7G>A - IntronicSNV - 11/17 1
17-40269057-A-G c.1760T>C p.V587A Missense 11/18 - 1
17-40269069-G-A c.1748C>T p.S583L Missense 11/18 - 1
17-40269069-GA-CC c.1747_1748delinsGG p.S583G Missense 11/18 - 1
17-40269072-G-T c.1745C>A p.T582N Missense 11/18 - 1
17-40269074-G-A c.1743C>T p.V581= Synonymous 11/18 - 1
17-40269074-G-C c.1743C>G p.V581= Synonymous 11/18 - 1
17-40269074-G-T c.1743C>A p.V581= Synonymous 11/18 - 1
17-40269075-A-G c.1742T>C p.V581A Missense 11/18 - 1
17-40269088-C-A c.1729G>T p.V577F Missense 11/18 - 3
17-40269089-A-G c.1728T>C p.I576= Synonymous 11/18 - 1
17-40269089-A-T c.1728T>A p.I576= Synonymous 11/18 - 1
17-40269094-C-G c.1723G>C p.E575Q Missense 11/18 - 1
17-40269096-G-A c.1721C>T p.T574M Missense 11/18 - 1
17-40269097-T-C c.1720A>G p.T574A Missense 11/18 - 3
17-40269103-C-A c.1714G>T p.G572C Missense 11/18 - 1
17-40269103-C-T c.1714G>A p.G572S Missense 11/18 - 1
17-40269105-TG-GT c.1711_1712delinsAC p.Q571T Missense 11/18 - 1
17-40269108-G-A c.1709C>T p.T570I Missense 11/18 - 1
17-40269108-G-C c.1709C>G p.T570S Missense 11/18 - 1
17-40269120-C-T c.1697G>A p.R566H Missense 11/18 - 1
17-40269121-G-A c.1696C>T p.R566C Missense 11/18 - 1
17-40269122-G-A c.1695C>T p.F565= Synonymous 11/18 - 1
17-40269126-C-T c.1691G>A p.C564Y Missense 11/18 - 1
17-40269136-C-A c.1681G>T p.G561C Missense 11/18 - 1
17-40269136-C-T c.1681G>A p.G561S Missense 11/18 - 2
17-40269137-G-C c.1680C>G p.I560M Missense 11/18 - 1
17-40269139-T-C c.1678A>G p.I560V Missense 11/18 - 1
17-40269141-A-T c.1676T>A p.V559D Missense 11/18 - 1
17-40269142-C-A c.1675G>T p.V559F Missense 11/18 - 1
17-40269143-CC-AT c.1673_1674delinsAT p.R558H Missense 11/18 - 1
17-40269146-GCCC-G c.1669_1671del p.G557del InFrameDeletion 11/18 - 1
17-40269147-C-A c.1670G>T p.G557V Missense 11/18 - 1
17-40269153-T-G c.1664A>C p.K555T Missense 11/18 - 1
17-40269163-C-A c.1654G>T p.A552S Missense 11/18 - 2
17-40269163-C-T c.1654G>A p.A552T Missense 11/18 - 1
17-40269195-G-A c.1638-16C>T - IntronicSNV - 10/17 1
17-40269401-C-T c.1637+5G>A - IntronicSNV - 10/17 1
17-40269402-G-T c.1637+4C>A - IntronicSNV - 10/17 1
17-40269410-C-G c.1633G>C p.D545H Missense 10/18 - 1
17-40269416-C-T c.1627G>A p.V543I Missense 10/18 - 2
17-40269420-G-GC c.1622dup p.L542Pfs*4 Frameshift 10/18 - 1
17-40269426-G-A c.1617C>T p.I539= Synonymous 10/18 - 3
17-40269430-T-C c.1613A>G p.Y538C Missense 10/18 - 1
17-40269434-C-T c.1609G>A p.E537K Missense 10/18 - 1
17-40269436-T-A c.1607A>T p.K536M Missense 10/18 - 3
17-40269439-G-A c.1604C>T p.P535L Missense 10/18 - 1
17-40269443-T-C c.1600A>G p.M534V Missense 10/18 - 1
17-40269445-C-T c.1598G>A p.R533H Missense 10/18 - 7
17-40269446-G-A c.1597C>T p.R533C Missense 10/18 - 2
17-40269447-C-A c.1596G>T p.P532= Synonymous 10/18 - 1
17-40269447-C-G c.1596G>C p.P532= Synonymous 10/18 - 1
17-40269447-C-T c.1596G>A p.P532= Synonymous 10/18 - 1
17-40269449-G-A c.1594C>T p.P532S Missense 10/18 - 1
17-40269460-G-A c.1583C>T p.S528F Missense 10/18 - 1
17-40269466-A-G c.1577T>C p.V526A Missense 10/18 - 1
17-40269467-C-CA c.1575dup p.V526Cfs*11 Frameshift 10/18 - 2
17-40269472-T-C c.1571A>G p.Q524R Missense 10/18 - 1
17-40269477-CCC-GCT c.1564_1566delinsAGC p.G522S Missense 10/18 - 1
17-40269482-C-T c.1561G>A p.V521M Missense 10/18 - 1
17-40269489-C-G c.1554G>C p.L518= Synonymous 10/18 - 1
17-40269491-G-A c.1552C>T p.L518= Synonymous 10/18 - 1
17-40269494-A-G c.1549T>C p.L517= Synonymous 10/18 - 1
17-40269498-C-G c.1545G>C p.R515= Synonymous 10/18 - 1
17-40269499-C-T c.1544G>A p.R515Q Missense 10/18 - 1
17-40269500-G-A c.1543C>T p.R515W Missense 10/18 - 3
17-40269500-G-C c.1543C>G p.R515G Missense 10/18 - 1
17-40269510-C-T c.1533G>A p.K511= Synonymous 10/18 - 1
17-40269516-C-T c.1527G>A p.T509= Synonymous 10/18 - 2
17-40269517-G-A c.1526C>T p.T509M Missense 10/18 - 1
17-40269520-A-C c.1523T>G p.L508R Missense 10/18 - 1
17-40269522-T-G c.1521A>C p.S507= Synonymous 10/18 - 1
17-40269529-C-T c.1514G>A p.G505D Missense 10/18 - 1
17-40269530-C-T c.1513G>A p.G505S Missense 10/18 - 2
17-40269531-G-A c.1512C>T p.I504= Synonymous 10/18 - 2
17-40269539-G-A c.1504C>T p.H502Y Missense 10/18 - 1
17-40269549-GAT-TTA c.1492_1494delinsTAA p.I498* Nonsense 10/18 - 1
17-40269553-C-A c.1490G>T p.G497V Missense 10/18 - 1
17-40269554-C-T c.1489G>A p.G497S Missense 10/18 - 1
17-40269556-C-T c.1487G>A p.R496H Missense 10/18 - 2
17-40269557-G-A c.1486C>T p.R496C Missense 10/18 - 2
17-40269558-GCG-TCA c.1483_1485delinsTGA p.R495* Nonsense 10/18 - 1
17-40269559-C-A c.1484G>T p.R495L Missense 10/18 - 1
17-40269560-G-A c.1483C>T p.R495C Missense 10/18 - 1
17-40269563-C-T c.1480G>A p.E494K Missense 10/18 - 2
17-40269571-C-A c.1472G>T p.R491L Missense 10/18 - 1
17-40269572-G-A c.1471C>T p.R491C Missense 10/18 - 4
17-40269573-G-A c.1470C>T p.A490= Synonymous 10/18 - 3
17-40269574-G-A c.1469C>T p.A490V Missense 10/18 - 1
17-40269585-CC-AT c.1457_1458delinsAT p.R486H Missense 10/18 - 1
17-40269586-C-A c.1457G>T p.R486L Missense 10/18 - 1
17-40269586-C-T c.1457G>A p.R486Q Missense 10/18 - 1
17-40269588-G-A c.1455C>T p.A485= Synonymous 10/18 - 1
17-40269595-T-C c.1448A>G p.N483S Missense 10/18 - 1
17-40269598-G-A c.1445C>T p.A482V Missense 10/18 - 1
17-40269600-C-A c.1443G>T p.S481= Synonymous 10/18 - 2
17-40269600-C-G c.1443G>C p.S481= Synonymous 10/18 - 2
17-40269600-C-T c.1443G>A p.S481= Synonymous 10/18 - 3
17-40269601-G-A c.1442C>T p.S481L Missense 10/18 - 3
17-40269605-G-C c.1438C>G p.L480V Missense 10/18 - 1
17-40269612-C-A c.1431G>T p.T477= Synonymous 10/18 - 1
17-40269612-C-G c.1431G>C p.T477= Synonymous 10/18 - 1
17-40269612-C-T c.1431G>A p.T477= Synonymous 10/18 - 1
17-40269627-G-A c.1429-13C>T - IntronicSNV - 9/17 1
17-40269627-G-T c.1429-13C>A - IntronicSNV - 9/17 1
17-40269729-G-A c.1395C>T p.T465= Synonymous 9/18 - 1
17-40269729-G-C c.1395C>G p.T465= Synonymous 9/18 - 2
17-40269729-G-T c.1395C>A p.T465= Synonymous 9/18 - 2
17-40269730-G-C c.1394C>G p.T465S Missense 9/18 - 1
17-40269731-T-A c.1393A>T p.T465S Missense 9/18 - 1
17-40269761-G-C c.1363C>G p.P455A Missense 9/18 - 5
17-40269767-C-T c.1357G>A p.D453N Missense 9/18 - 1
17-40269768-A-C c.1356T>G p.G452= Synonymous 9/18 - 1
17-40269777-A-G c.1347T>C p.R449= Synonymous 9/18 - 1
17-40269779-G-A c.1345C>T p.R449C Missense 9/18 - 3
17-40269779-G-T c.1345C>A p.R449S Missense 9/18 - 1
17-40269794-C-T c.1330G>A p.D444N Missense 9/18 - 1
17-40269797-C-T c.1327G>A p.E443K Missense 9/18 - 1
17-40269799-A-G c.1325T>C p.L442P Missense 9/18 - 1
17-40269800-G-T c.1324C>A p.L442M Missense 9/18 - 1
17-40269804-C-A c.1320G>T p.L440= Synonymous 9/18 - 1
17-40269804-CAG-AAA c.1318_1320delinsTTT p.L440F Missense 9/18 - 1
17-40269804-C-G c.1320G>C p.L440= Synonymous 9/18 - 1
17-40269804-C-T c.1320G>A p.L440= Synonymous 9/18 - 1
17-40269806-G-A c.1318C>T p.L440= Synonymous 9/18 - 1
17-40269810-C-A c.1314G>T p.E438D Missense 9/18 - 1
17-40269810-C-G c.1314G>C p.E438D Missense 9/18 - 1
17-40269816-G-A c.1308C>T p.L436= Synonymous 9/18 - 2
17-40269816-G-C c.1308C>G p.L436= Synonymous 9/18 - 1
17-40269816-G-T c.1308C>A p.L436= Synonymous 9/18 - 2
17-40269818-G-A c.1306C>T p.L436F Missense 9/18 - 3
17-40269819-C-A c.1305G>T p.T435= Synonymous 9/18 - 1
17-40269819-C-G c.1305G>C p.T435= Synonymous 9/18 - 1
17-40269819-C-T c.1305G>A p.T435= Synonymous 9/18 - 1
17-40269824-T-C c.1300A>G p.R434G Missense 9/18 - 1
17-40269827-T-C c.1297A>G p.K433E Missense 9/18 - 1
17-40269830-C-T c.1294G>A p.E432K Missense 9/18 - 1
17-40269831-G-A c.1293C>T p.G431= Synonymous 9/18 - 1
17-40269831-G-C c.1293C>G p.G431= Synonymous 9/18 - 1
17-40269831-G-T c.1293C>A p.G431= Synonymous 9/18 - 1
17-40269832-C-A c.1292G>T p.G431V Missense 9/18 - 2
17-40269926-T-A c.1290A>T p.P430= Synonymous 8/18 - 2
17-40269926-T-C c.1290A>G p.P430= Synonymous 8/18 - 2
17-40269926-T-G c.1290A>C p.P430= Synonymous 8/18 - 2
17-40269927-G-A c.1289C>T p.P430L Missense 8/18 - 2
17-40269934-G-C c.1282C>G p.P428A Missense 8/18 - 1
17-40269940-C-G c.1276G>C p.A426P Missense 8/18 - 1
17-40269943-C-A c.1273G>T p.G425W Missense 8/18 - 1
17-40269947-A-C c.1269T>G p.S423= Synonymous 8/18 - 1
17-40269957-C-T c.1259G>A p.S420N Missense 8/18 - 1
17-40269959-C-A c.1257G>T p.L419= Synonymous 8/18 - 1
17-40269959-C-G c.1257G>C p.L419= Synonymous 8/18 - 1
17-40269959-C-T c.1257G>A p.L419= Synonymous 8/18 - 1
17-40269961-G-A c.1255C>T p.L419= Synonymous 8/18 - 1
17-40269963-G-A c.1253C>T p.S418F Missense 8/18 - 3
17-40269974-G-T c.1242C>A p.G414= Synonymous 8/18 - 1
17-40269976-C-A c.1240G>T p.G414C Missense 8/18 - 1
17-40269977-C-G c.1239G>C p.G413= Synonymous 8/18 - 1
17-40269981-C-T c.1235G>A p.G412D Missense 8/18 - 1
17-40269982-C-T c.1234G>A p.G412S Missense 8/18 - 1
17-40270000-T-C c.1216A>G p.I406V Missense 8/18 - 3
17-40270001-G-A c.1215C>T p.P405= Synonymous 8/18 - 1
17-40270003-G-T c.1213C>A p.P405T Missense 8/18 - 3
17-40270011-G-T c.1205C>A p.P402H Missense 8/18 - 2
17-40270012-G-A c.1204C>T p.P402S Missense 8/18 - 1
17-40270019-C-T c.1197G>A p.A399= Synonymous 8/18 - 1
17-40270024-C-T c.1192G>A p.A398T Missense 8/18 - 2
17-40270031-CTGA-C c.1183_1185del p.S395del InFrameDeletion 8/18 - 2
17-40270033-A-G c.1183T>C p.S395P Missense 8/18 - 1
17-40270029-ACTGAAG-A c.1181_1186del p.A394_S395del SpliceAcceptorDeletion 8/18 7/17 4
17-40270035-G-A c.1181C>T p.A394V Missense 8/18 - 2
17-40270053-C-A c.1181-18G>T - IntronicSNV - 7/17 1
17-40270053-C-CAA c.1181-19_1181-18insTT - IntronicInsertion - 7/17 1
17-40270053-C-G c.1181-18G>C - IntronicSNV - 7/17 1
17-40270053-C-T c.1181-18G>A - IntronicSNV - 7/17 1
17-40270062-T-C c.1181-27A>G - IntronicSNV - 7/17 3
17-40270062-T-G c.1181-27A>C - IntronicSNV - 7/17 3
17-40270234-C-T c.1180+81G>A - IntronicSNV - 7/17 1
17-40270238-G-C c.1180+77C>G - IntronicSNV - 7/17 1
17-40270315-C-T c.1180G>A p.A394T Missense 7/18 - 1
17-40270318-G-C c.1177C>G p.P393A Missense 7/18 - 1
17-40270320-C-T c.1175G>A p.R392Q Missense 7/18 - 2
17-40270323-G-A c.1172C>T p.P391L Missense 7/18 - 1
17-40270324-G-A c.1171C>T p.P391S Missense 7/18 - 1
17-40270330-G-A c.1165C>T p.L389= Synonymous 7/18 - 1
17-40270331-C-T c.1164G>A p.Q388= Synonymous 7/18 - 2
17-40270333-G-A c.1162C>T p.Q388* Nonsense 7/18 - 1
17-40270338-C-T c.1157G>A p.G386E Missense 7/18 - 1
17-40270344-GA-CC c.1150_1151delinsGG p.S384G Missense 7/18 - 1
17-40270346-G-A c.1149C>T p.P383= Synonymous 7/18 - 2
17-40270346-G-C c.1149C>G p.P383= Synonymous 7/18 - 1
17-40270346-G-T c.1149C>A p.P383= Synonymous 7/18 - 1
17-40270351-G-A c.1144C>T p.P382S Missense 7/18 - 1
17-40270354-T-C c.1141A>G p.M381V Missense 7/18 - 2
17-40270367-C-T c.1128G>A p.E376= Synonymous 7/18 - 1
17-40270371-C-T c.1124G>A p.W375* Nonsense 7/18 - 1
17-40270378-G-A c.1117C>T p.P373S Missense 7/18 - 1
17-40270378-G-C c.1117C>G p.P373A Missense 7/18 - 1
17-40270384-T-G c.1111A>C p.N371H Missense 7/18 - 1
17-40270388-CCC-GCT c.1105_1107delinsAGC p.G369S Missense 7/18 - 1
17-40270411-T-C c.1084A>G p.M362V Missense 7/18 - 2
17-40270412-G-A c.1083C>T p.S361= Synonymous 7/18 - 3
17-40270415-C-A c.1080G>T p.L360= Synonymous 7/18 - 1
17-40270415-C-G c.1080G>C p.L360= Synonymous 7/18 - 1
17-40270415-C-T c.1080G>A p.L360= Synonymous 7/18 - 1
17-40270417-G-A c.1078C>T p.L360= Synonymous 7/18 - 2
17-40270418-G-A c.1077C>T p.F359= Synonymous 7/18 - 1
17-40270419-A-T c.1076T>A p.F359Y Missense 7/18 - 1
17-40271267-G-A c.1069C>T p.P357S Missense 6/18 - 2
17-40271269-A-G c.1067T>C p.F356S Missense 6/18 - 1
17-40271270-A-G c.1066T>C p.F356L Missense 6/18 - 1
17-40271273-G-A c.1063C>T p.H355Y Missense 6/18 - 1
17-40271297-C-T c.1039G>A p.E347K Missense 6/18 - 4
17-40271299-G-A c.1037C>T p.P346L Missense 6/18 - 1
17-40271310-G-C c.1026C>G p.D342E Missense 6/18 - 1
17-40271310-G-T c.1026C>A p.D342E Missense 6/18 - 1
17-40271317-T-G c.1019A>C p.E340A Missense 6/18 - 1
17-40271318-C-G c.1018G>C p.E340Q Missense 6/18 - 1
17-40271320-A-G c.1016T>C p.V339A Missense 6/18 - 2
17-40271316-CTCCACTCGGAACTTT-C c.1005_1019del p.F337_K341del InFrameDeletion 6/18 - 1
17-40271321-C-A c.1015G>T p.V339L Missense 6/18 - 1
17-40271320-ACTCGGAACTTTT-A c.1004_1015del p.E335_R338del InFrameDeletion 6/18 - 1
17-40271325-G-A c.1011C>T p.F337= Synonymous 6/18 - 3
17-40271329-T-G c.1007A>C p.K336T Missense 6/18 - 1
17-40271334-CAG-AAA c.1000_1002delinsTTT p.L334F Missense 6/18 - 1
17-40271334-CAG-GAT c.1000_1002delinsATC p.L334I Missense 6/18 - 1
17-40271345-G-A c.991C>T p.R331W Missense 6/18 - 1
17-40271348-G-A c.988C>T p.R330C Missense 6/18 - 3
17-40271354-C-T c.982G>A p.V328I Missense 6/18 - 4
17-40271360-A-T c.976T>A p.F326I Missense 6/18 - 1
17-40271369-G-A c.967C>T p.R323W Missense 6/18 - 1
17-40271370-G-A c.966C>T p.L322= Synonymous 6/18 - 3
17-40271370-G-C c.966C>G p.L322= Synonymous 6/18 - 1
17-40271370-G-T c.966C>A p.L322= Synonymous 6/18 - 1
17-40271376-G-A c.960C>T p.S320= Synonymous 6/18 - 2
17-40271378-T-C c.958A>G p.S320G Missense 6/18 - 1
17-40271379-TCG-CCA c.955_957delinsTGG p.R319W Missense 6/18 - 1
17-40271380-C-T c.956G>A p.R319Q Missense 6/18 - 3
17-40271381-G-A c.955C>T p.R319* Nonsense 6/18 - 2
17-40271403-G-A c.933C>T p.Y311= Synonymous 6/18 - 3
17-40271406-G-A c.930C>T p.R310= Synonymous 6/18 - 2
17-40271406-GCG-CTT c.928_930delinsAAG p.R310K Missense 6/18 - 1
17-40271407-C-T c.929G>A p.R310H Missense 6/18 - 2
17-40271408-G-A c.928C>T p.R310C Missense 6/18 - 3
17-40271410-G-A c.926C>T p.P309L Missense 6/18 - 2
17-40271414-G-T c.922C>A p.L308I Missense 6/18 - 1
17-40271415-G-A c.921C>T p.S307= Synonymous 6/18 - 1
17-40271418-A-G c.918T>C p.D306= Synonymous 6/18 - 1
17-40271421-A-G c.915T>C p.C305= Synonymous 6/18 - 1
17-40271424-G-C c.912C>G p.S304R Missense 6/18 - 1
17-40271424-GCT-TCA c.910_912delinsTGA p.S304* Nonsense 6/18 - 1
17-40271424-G-T c.912C>A p.S304R Missense 6/18 - 1
17-40271426-T-G c.910A>C p.S304R Missense 6/18 - 1
17-40271431-G-A c.905C>T p.P302L Missense 6/18 - 1
17-40271435-C-T c.901G>A p.V301M Missense 6/18 - 1
17-40271436-G-A c.900C>T p.H300= Synonymous 6/18 - 1
17-40271436-G-T c.900C>A p.H300Q Missense 6/18 - 1
17-40271554-C-T c.881+1G>A - IntronicSNV - 5/17 1
17-40271574-A-T c.862T>A p.Y288N Missense 5/18 - 1
17-40271580-C-T c.856G>A p.A286T Missense 5/18 - 1
17-40271586-C-A c.850G>T p.D284Y Missense 5/18 - 1
17-40271591-G-A c.845C>T p.A282V Missense 5/18 - 1
17-40271592-C-A c.844G>T p.A282S Missense 5/18 - 1
17-40271595-G-A c.841C>T p.Q281* Nonsense 5/18 - 2
17-40271597-G-A c.839C>T p.S280F Missense 5/18 - 1
17-40271600-CT-TG c.835_836delinsCA p.R279Q Missense 5/18 - 1
17-40271605-C-G c.831G>C p.R277= Synonymous 5/18 - 1
17-40271605-C-T c.831G>A p.R277= Synonymous 5/18 - 1
17-40271607-G-A c.829C>T p.R277W Missense 5/18 - 4
17-40271608-A-G c.828T>C p.F276= Synonymous 5/18 - 1
17-40271613-G-GCCCAGTTTC c.822_823insGAAACTGGG p.A274_Q275insETG InFrameInsertion 5/18 - 1
17-40271619-G-A c.817C>T p.P273S Missense 5/18 - 1
17-40271629-C-A c.807G>T p.K269N Missense 5/18 - 1
17-40271629-C-G c.807G>C p.K269N Missense 5/18 - 1
17-40271633-C-T c.803G>A p.W268* Nonsense 5/18 - 1
17-40271650-C-T c.786G>A p.L262= Synonymous 5/18 - 1
17-40271652-A-G c.784T>C p.L262= Synonymous 5/18 - 2
17-40271653-G-C c.783C>G p.F261L Missense 5/18 - 1
17-40271653-G-T c.783C>A p.F261L Missense 5/18 - 1
17-40271655-A-G c.781T>C p.F261L Missense 5/18 - 1
17-40271655-A-T c.781T>A p.F261I Missense 5/18 - 1
17-40271658-T-C c.778A>G p.M260V Missense 5/18 - 1
17-40271670-C-T c.766G>A p.E256K Missense 5/18 - 1
17-40271675-A-G c.761T>C p.M254T Missense 5/18 - 1
17-40271678-G-A c.758C>T p.T253M Missense 5/18 - 1
17-40271680-C-A c.756G>T p.Q252H Missense 5/18 - 2
17-40271680-C-G c.756G>C p.Q252H Missense 5/18 - 3
17-40271683-C-T c.753G>A p.R251= Synonymous 5/18 - 1
17-40271685-G-A c.751C>T p.R251W Missense 5/18 - 1
17-40271688-C-T c.748G>A p.E250K Missense 5/18 - 2
17-40271690-C-T c.746G>A p.R249Q Missense 5/18 - 1
17-40271691-G-A c.745C>T p.R249W Missense 5/18 - 1
17-40271693-G-A c.743C>T p.P248L Missense 5/18 - 4
17-40271695-A-C c.741T>G p.A247= Synonymous 5/18 - 2
17-40271695-A-G c.741T>C p.A247= Synonymous 5/18 - 2
17-40271695-A-T c.741T>A p.A247= Synonymous 5/18 - 2
17-40271696-G-A c.740C>T p.A247V Missense 5/18 - 1
17-40271721-C-T c.715G>A p.V239M Missense 5/18 - 1
17-40271728-CAG-GAT c.706_708delinsATC p.L236I Missense 5/18 - 1
17-40271728-C-T c.708G>A p.L236= Synonymous 5/18 - 1
17-40271757-G-A c.700-21C>T - IntronicSNV - 4/17 7
17-40271892-T-C c.699+156A>G - IntronicSNV - 4/17 1
17-40271970-A-G c.699+78T>C - IntronicSNV - 4/17 1
17-40272050-G-GA c.696_697insT p.Q233Sfs*12 Frameshift 4/18 - 1
17-40272068-C-G c.679G>C p.E227Q Missense 4/18 - 2
17-40272072-T-A c.675A>T p.P225= Synonymous 4/18 - 1
17-40272072-T-C c.675A>G p.P225= Synonymous 4/18 - 1
17-40272072-T-G c.675A>C p.P225= Synonymous 4/18 - 1
17-40272076-G-T c.671C>A p.P224H Missense 4/18 - 1
17-40272079-C-G c.668G>C p.S223T Missense 4/18 - 1
17-40272081-G-A c.666C>T p.G222= Synonymous 4/18 - 1
17-40272081-G-C c.666C>G p.G222= Synonymous 4/18 - 1
17-40272081-G-T c.666C>A p.G222= Synonymous 4/18 - 1
17-40272083-C-G c.664G>C p.G222R Missense 4/18 - 1
17-40272085-A-T c.662T>A p.L221Q Missense 4/18 - 1
17-40272090-C-G c.657G>C p.G219= Synonymous 4/18 - 1
17-40272092-C-A c.655G>T p.G219W Missense 4/18 - 1
17-40272097-A-C c.650T>G p.V217G Missense 4/18 - 1
17-40272102-AG-TT c.644_645delinsAA p.P215Q Missense 4/18 - 1
17-40272104-G-T c.643C>A p.P215T Missense 4/18 - 1
17-40272106-C-T c.641G>A p.R214Q Missense 4/18 - 1
17-40272107-G-A c.640C>T p.R214W Missense 4/18 - 3
17-40272111-C-A c.636G>T p.M212I Missense 4/18 - 2
17-40272111-C-G c.636G>C p.M212I Missense 4/18 - 2
17-40272111-C-T c.636G>A p.M212I Missense 4/18 - 2
17-40272113-T-C c.634A>G p.M212V Missense 4/18 - 1
17-40272119-G-A c.628C>T p.L210= Synonymous 4/18 - 3
17-40272120-G-C c.627C>G p.I209M Missense 4/18 - 1
17-40272130-C-A c.617G>T p.R206L Missense 4/18 - 1
17-40272131-G-A c.616C>T p.R206W Missense 4/18 - 2
17-40272132-C-A c.615G>T p.L205= Synonymous 4/18 - 1
17-40272132-C-G c.615G>C p.L205= Synonymous 4/18 - 1
17-40272132-C-T c.615G>A p.L205= Synonymous 4/18 - 1
17-40272134-G-A c.613C>T p.L205= Synonymous 4/18 - 1
17-40272133-A-G c.614T>C p.L205P Missense 4/18 - 1
17-40272255-G-C c.597C>G p.F199L Missense 3/18 - 1
17-40272255-G-T c.597C>A p.F199L Missense 3/18 - 1
17-40272257-A-G c.595T>C p.F199L Missense 3/18 - 1
17-40272263-C-T c.589G>A p.V197I Missense 3/18 - 1
17-40272264-C-T c.588G>A p.Q196= Synonymous 3/18 - 1
17-40272267-C-A c.585G>T p.K195N Missense 3/18 - 1
17-40272303-G-C c.549C>G p.F183L Missense 3/18 - 1
17-40272303-G-T c.549C>A p.F183L Missense 3/18 - 1
17-40272305-A-G c.547T>C p.F183L Missense 3/18 - 1
17-40272308-G-C c.544C>G p.L182V Missense 3/18 - 2
17-40272320-C-T c.532G>A p.D178N Missense 3/18 - 1
17-40272321-C-A c.531G>T p.V177= Synonymous 3/18 - 2
17-40272321-C-G c.531G>C p.V177= Synonymous 3/18 - 1
17-40272321-C-T c.531G>A p.V177= Synonymous 3/18 - 1
17-40272323-C-T c.529G>A p.V177M Missense 3/18 - 1
17-40272330-C-A c.522G>T p.G174= Synonymous 3/18 - 1
17-40272330-C-G c.522G>C p.G174= Synonymous 3/18 - 1
17-40272330-C-T c.522G>A p.G174= Synonymous 3/18 - 1
17-40272333-C-A c.519G>T p.L173= Synonymous 3/18 - 1
17-40272333-C-G c.519G>C p.L173= Synonymous 3/18 - 1
17-40272333-C-T c.519G>A p.L173= Synonymous 3/18 - 1
17-40272335-G-A c.517C>T p.L173= Synonymous 3/18 - 1
17-40272340-C-A c.512G>T p.R171L Missense 3/18 - 1
17-40272341-G-A c.511C>T p.R171* Nonsense 3/18 - 1
17-40272343-T-C c.509A>G p.N170S Missense 3/18 - 4
17-40272347-T-A c.505A>T p.I169L Missense 3/18 - 1
17-40272347-T-G c.505A>C p.I169L Missense 3/18 - 1
17-40272349-T-C c.503A>G p.E168G Missense 3/18 - 1
17-40272350-C-G c.502G>C p.E168Q Missense 3/18 - 2
17-40272354-C-A c.498G>T p.E166D Missense 3/18 - 3
17-40272354-C-G c.498G>C p.E166D Missense 3/18 - 1
17-40272359-A-T c.493T>A p.S165T Missense 3/18 - 1
17-40272360-CAC-GAT c.490_492delinsATC p.V164I Missense 3/18 - 1
17-40272364-TT-AA c.487_488inv p.N163F Missense 3/18 - 1
17-40272368-C-T c.484G>A p.E162K Missense 3/18 - 1
17-40272373-T-G c.479A>C p.H160P Missense 3/18 - 1
17-40272374-G-A c.478C>T p.H160Y Missense 3/18 - 1
17-40272376-G-A c.476C>T p.S159F Missense 3/18 - 1
17-40272380-C-T c.472G>A p.V158I Missense 3/18 - 1
17-40272381-G-A c.471C>T p.H157= Synonymous 3/18 - 1
17-40272406-G-A c.464-18C>T - IntronicSNV - 2/17 2
17-40272406-G-C c.464-18C>G - IntronicSNV - 2/17 2
17-40272406-G-T c.464-18C>A - IntronicSNV - 2/17 2
17-40272522-C-T c.464-134G>A - IntronicSNV - 2/17 1
17-40272594-C-A c.463+130G>T - IntronicSNV - 2/17 1
17-40272592-AC-A c.463+131del - IntronicDeletion - 2/17 1
17-40272645-G-T c.463+79C>A - IntronicSNV - 2/17 1
17-40272728-G-T c.459C>A p.P153= Synonymous 2/18 - 1
17-40272736-C-T c.451G>A p.E151K Missense 2/18 - 1
17-40272740-A-G c.447T>C p.S149= Synonymous 2/18 - 1
17-40272744-C-T c.443G>A p.R148H Missense 2/18 - 2
17-40272750-A-G c.437T>C p.L146P Missense 2/18 - 1
17-40272754-C-T c.433G>A p.E145K Missense 2/18 - 1
17-40272755-A-C c.432T>G p.S144R Missense 2/18 - 1
17-40272755-A-T c.432T>A p.S144R Missense 2/18 - 1
17-40272757-T-G c.430A>C p.S144R Missense 2/18 - 1
17-40272756-C-A c.431G>T p.S144I Missense 2/18 - 1
17-40272769-C-A c.418G>T p.A140S Missense 2/18 - 1
17-40272779-C-A c.408G>T p.L136= Synonymous 2/18 - 1
17-40272779-C-G c.408G>C p.L136= Synonymous 2/18 - 1
17-40272779-C-T c.408G>A p.L136= Synonymous 2/18 - 1
17-40272781-G-A c.406C>T p.L136= Synonymous 2/18 - 1
17-40272784-C-T c.403G>A p.D135N Missense 2/18 - 1
17-40272787-T-C c.400A>G p.M134V Missense 2/18 - 1
17-40272789-C-T c.398G>A p.R133H Missense 2/18 - 2
17-40272795-G-A c.392C>T p.A131V Missense 2/18 - 1
17-40272801-G-A c.386C>T p.P129L Missense 2/18 - 1
17-40272802-G-A c.385C>T p.P129S Missense 2/18 - 2
17-40272799-T-TG c.387dup p.T130Hfs*16 Frameshift 2/18 - 1
17-40272812-G-C c.375C>G p.N125K Missense 2/18 - 3
17-40272812-G-T c.375C>A p.N125K Missense 2/18 - 3
17-40272817-T-C c.370A>G p.K124E Missense 2/18 - 5
17-40272817-T-TA c.369_370insT p.K124* Nonsense 2/18 - 1
17-40272819-C-T c.368G>A p.W123* Nonsense 2/18 - 2
17-40272828-C-T c.359G>A p.C120Y Missense 2/18 - 2
17-40272830-CTT-GTC c.355_357delinsGAC p.K119D Missense 2/18 - 1
17-40272831-T-C c.356A>G p.K119R Missense 2/18 - 1
17-40272832-T-C c.355A>G p.K119E Missense 2/18 - 1
17-40272832-T-G c.355A>C p.K119Q Missense 2/18 - 1
17-40272836-G-A c.351C>T p.T117= Synonymous 2/18 - 1
17-40272836-G-C c.351C>G p.T117= Synonymous 2/18 - 1
17-40272836-G-T c.351C>A p.T117= Synonymous 2/18 - 1
17-40272840-T-G c.347A>C p.E116A Missense 2/18 - 1
17-40272841-C-A c.346G>T p.E116* Nonsense 2/18 - 4
17-40272843-TT-AA c.343_344inv p.N115F Missense 2/18 - 1
17-40272984-C-A c.339G>T p.K113N Missense 1/18 - 1
17-40272984-C-G c.339G>C p.K113N Missense 1/18 - 1
17-40272991-G-A c.332C>T p.A111V Missense 1/18 - 1
17-40272992-C-T c.331G>A p.A111T Missense 1/18 - 1
17-40272993-C-T c.330G>A p.S110= Synonymous 1/18 - 1
17-40272996-G-A c.327C>T p.F109= Synonymous 1/18 - 1
17-40272997-A-C c.326T>G p.F109C Missense 1/18 - 1
17-40272996-G-C c.327C>G p.F109L Missense 1/18 - 1
17-40272996-G-T c.327C>A p.F109L Missense 1/18 - 1
17-40272998-A-G c.325T>C p.F109L Missense 1/18 - 1
17-40272999-GAC-CAT c.322_324delinsATG p.V108M Missense 1/18 - 1
17-40273005-T-A c.318A>T p.L106= Synonymous 1/18 - 2
17-40273008-C-T c.315G>A p.K105= Synonymous 1/18 - 1
17-40273013-C-G c.310G>C p.E104Q Missense 1/18 - 1
17-40273022-T-C c.301A>G p.K101E Missense 1/18 - 1
17-40273024-G-A c.299C>T p.A100V Missense 1/18 - 1
17-40273027-C-T c.296G>A p.R99H Missense 1/18 - 1
17-40273028-G-A c.295C>T p.R99C Missense 1/18 - 1
17-40273035-C-A c.288G>T p.G96= Synonymous 1/18 - 1
17-40273035-C-G c.288G>C p.G96= Synonymous 1/18 - 1
17-40273035-C-T c.288G>A p.G96= Synonymous 1/18 - 1
17-40273038-CCG-GCT c.283_285delinsAGC p.R95S Missense 1/18 - 2
17-40273041-GAC-CAT c.280_282delinsATG p.V94M Missense 1/18 - 1
17-40273048-G-A c.275C>T p.A92V Missense 1/18 - 1
17-40273052-T-C c.271A>G p.K91E Missense 1/18 - 1
17-40273061-T-C c.262A>G p.S88G Missense 1/18 - 1
17-40273067-G-A c.256C>T p.R86C Missense 1/18 - 2
17-40273084-C-T c.239G>A p.G80D Missense 1/18 - 1
17-40273088-G-T c.235C>A p.P79T Missense 1/18 - 1
17-40273093-G-C c.230C>G p.A77G Missense 1/18 - 1
17-40273097-G-T c.226C>A p.P76T Missense 1/18 - 1
17-40273105-C-G c.218G>C p.G73A Missense 1/18 - 1
17-40273099-TC-T c.223del p.D75Ifs*7 Frameshift 1/18 - 2
17-40273099-T-TC c.223dup p.D75Gfs*30 Frameshift 1/18 - 1
17-40273099-TCCCCCCCGCTCCCGG-T c.209_223del p.A70_G74del InFrameDeletion 1/18 - 1
17-40273107-G-C c.216C>G p.S72R Missense 1/18 - 1
17-40273110-C-T c.213G>A p.G71= Synonymous 1/18 - 1
17-40273117-C-T c.206G>A p.G69E Missense 1/18 - 1
17-40273119-C-A c.204G>T p.G68= Synonymous 1/18 - 1
17-40273119-C-G c.204G>C p.G68= Synonymous 1/18 - 1
17-40273119-C-T c.204G>A p.G68= Synonymous 1/18 - 1
17-40273122-A-C c.201T>G p.S67R Missense 1/18 - 1
17-40273129-A-C c.194T>G p.V65G Missense 1/18 - 1
17-40273131-C-A c.192G>T p.G64= Synonymous 1/18 - 2
17-40273131-C-G c.192G>C p.G64= Synonymous 1/18 - 2
17-40273131-C-T c.192G>A p.G64= Synonymous 1/18 - 2
17-40273136-G-T c.187C>A p.P63T Missense 1/18 - 1
17-40273149-T-G c.174A>C p.T58= Synonymous 1/18 - 1
17-40273153-CT-AG c.169_170inv p.S57L Missense 1/18 - 1
17-40273165-GC-AT c.157_158delinsAT p.A53I Missense 1/18 - 1
17-40273167-T-A c.156A>T p.A52= Synonymous 1/18 - 1
17-40273167-T-C c.156A>G p.A52= Synonymous 1/18 - 1
17-40273167-T-G c.156A>C p.A52= Synonymous 1/18 - 1
17-40273167-TGC-ACA c.154_156delinsTGT p.A52C Missense 1/18 - 1
17-40273170-A-C c.153T>G p.A51= Synonymous 1/18 - 1
17-40273170-A-G c.153T>C p.A51= Synonymous 1/18 - 1
17-40273170-A-T c.153T>A p.A51= Synonymous 1/18 - 1
17-40273174-G-A c.149C>T p.P50L Missense 1/18 - 1
17-40273178-C-A c.145G>T p.A49S Missense 1/18 - 1
17-40273178-C-G c.145G>C p.A49P Missense 1/18 - 1
17-40273186-G-A c.137C>T p.P46L Missense 1/18 - 2
17-40273191-C-A c.132G>T p.P44= Synonymous 1/18 - 1
17-40273191-C-G c.132G>C p.P44= Synonymous 1/18 - 1
17-40273191-CG-AT c.131_132delinsAT p.P44H Missense 1/18 - 1
17-40273191-C-T c.132G>A p.P44= Synonymous 1/18 - 1
17-40273193-G-A c.130C>T p.P44S Missense 1/18 - 1
17-40273198-G-A c.125C>T p.P42L Missense 1/18 - 1
17-40273202-T-C c.121A>G p.T41A Missense 1/18 - 1
17-40273207-A-C c.116T>G p.I39S Missense 1/18 - 1
17-40273211-G-A c.112C>T p.P38S Missense 1/18 - 1
17-40273231-GC-AG c.91_92delinsCT p.A31L Missense 1/18 - 1
17-40273231-GC-TA c.91_92delinsTA p.A31* Nonsense 1/18 - 1
17-40273236-A-C c.87T>G p.T29= Synonymous 1/18 - 1
17-40273236-A-G c.87T>C p.T29= Synonymous 1/18 - 1
17-40273236-A-T c.87T>A p.T29= Synonymous 1/18 - 1
17-40273243-G-GT c.79dup p.T27Nfs*78 Frameshift 1/18 - 1
17-40273249-G-A c.74C>T p.A25V Missense 1/18 - 3
17-40273249-G-T c.74C>A p.A25D Missense 1/18 - 2
17-40273252-G-A c.71C>T p.P24L Missense 1/18 - 1
17-40273254-GGC-CAT c.67_69delinsATG p.A23M Missense 1/18 - 3
17-40273261-G-A c.62C>T p.S21F Missense 1/18 - 2
17-40273276-G-A c.47C>T p.P16L Missense 1/18 - 1
17-40273282-GC-CA c.40_41delinsTG p.A14W Missense 1/18 - 1
17-40273284-A-C c.39T>G p.A13= Synonymous 1/18 - 1
17-40273284-A-G c.39T>C p.A13= Synonymous 1/18 - 1
17-40273284-AGC-CCA c.37_39delinsTGG p.A13W Missense 1/18 - 1
17-40273284-A-T c.39T>A p.A13= Synonymous 1/18 - 1
17-40273287-C-T c.36G>A p.P12= Synonymous 1/18 - 1
17-40273291-GC-CA c.31_32delinsTG p.A11C Missense 1/18 - 1
17-40273291-GC-TA c.31_32delinsTA p.A11Y Missense 1/18 - 2
17-40273302-G-A c.21C>T p.A7= Synonymous 1/18 - 1
17-40273302-G-C c.21C>G p.A7= Synonymous 1/18 - 1
17-40273302-G-T c.21C>A p.A7= Synonymous 1/18 - 1
17-40273315-T-G c.8A>C p.E3A Missense 1/18 - 1
17-40273343-G-A c.-21C>T - 5-UTRSNV 1/18 - 1