ITGB1

ITGB1 integrin subunit beta 1

Annotation transcript: NM_002211.4

824 unique variant annotations were identified in 548 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
10-33189657-C-T c.*841G>A - 3-UTRSNV 16/16 - 2
10-33190285-G-A c.*213C>T - 3-UTRSNV 16/16 - 13
10-33190285-G-T c.*213C>A - 3-UTRSNV 16/16 - 13
10-33190327-A-G c.*171T>C - 3-UTRSNV 16/16 - 1
10-33190360-T-C c.*138A>G - 3-UTRSNV 16/16 - 1
10-33190376-T-C c.*122A>G - 3-UTRSNV 16/16 - 1
10-33190510-A-G c.2385T>C p.Y795= Synonymous 16/16 - 1
10-33190511-T-A c.2384A>T p.Y795F Missense 16/16 - 1
10-33190511-TA-GC c.2383_2384delinsGC p.Y795A Missense 16/16 - 4
10-33190513-C-A c.2382G>T p.K794N Missense 16/16 - 3
10-33190513-C-G c.2382G>C p.K794N Missense 16/16 - 4
10-33190513-C-T c.2382G>A p.K794= Synonymous 16/16 - 1
10-33190516-C-A c.2379G>T p.P793= Synonymous 16/16 - 1
10-33190516-C-G c.2379G>C p.P793= Synonymous 16/16 - 1
10-33190516-C-T c.2379G>A p.P793= Synonymous 16/16 - 1
10-33190517-G-A c.2378C>T p.P793L Missense 16/16 - 3
10-33190518-G-A c.2377C>T p.P793S Missense 16/16 - 1
10-33190518-G-T c.2377C>A p.P793T Missense 16/16 - 1
10-33190519-A-G c.2376T>C p.N792= Synonymous 16/16 - 1
10-33190522-G-A c.2373C>T p.V791= Synonymous 16/16 - 1
10-33190522-GAC-CAT c.2371_2373delinsATG p.V791M Missense 16/16 - 1
10-33190522-G-C c.2373C>G p.V791= Synonymous 16/16 - 1
10-33190522-G-T c.2373C>A p.V791= Synonymous 16/16 - 1
10-33190526-A-T c.2369T>A p.V790E Missense 16/16 - 1
10-33190529-GT-TC c.2365_2366delinsGA p.T789D Missense 16/16 - 1
10-33190530-T-C c.2365A>G p.T789A Missense 16/16 - 1
10-33190531-TGT-GTC c.2362_2364delinsGAC p.T788D Missense 16/16 - 2
10-33190533-T-C c.2362A>G p.T788A Missense 16/16 - 1
10-33190535-A-G c.2360T>C p.V787A Missense 16/16 - 1
10-33190536-C-T c.2359G>A p.V787I Missense 16/16 - 2
10-33190541-CT-GC c.2353_2354delinsGC p.S785A Missense 16/16 - 1
10-33190543-C-T c.2352G>A p.K784= Synonymous 16/16 - 1
10-33190547-T-A c.2348A>T p.Y783F Missense 16/16 - 1
10-33190547-TA-GC c.2347_2348delinsGC p.Y783A Missense 16/16 - 3
10-33190549-A-C c.2346T>G p.I782M Missense 16/16 - 1
10-33190553-G-A c.2342C>T p.P781L Missense 16/16 - 1
10-33190554-G-A c.2341C>T p.P781S Missense 16/16 - 3
10-33190554-G-C c.2341C>G p.P781A Missense 16/16 - 1
10-33190555-A-G c.2340T>C p.N780= Synonymous 16/16 - 1
10-33190556-T-C c.2339A>G p.N780S Missense 16/16 - 1
10-33190557-T-G c.2338A>C p.N780H Missense 16/16 - 1
10-33190567-C-A c.2332-4G>T - IntronicSNV - 15/15 13
10-33192069-G-C c.2332-1506C>G - IntronicSNV - 15/15 1
10-33192069-G-T c.2332-1506C>A - IntronicSNV - 15/15 1
10-33192651-A-G c.2332-2088T>C - IntronicSNV - 15/15 1
10-33195169-G-A c.2331+2127C>T - IntronicSNV - 15/15 1
10-33195627-A-G c.2331+1669T>C - IntronicSNV - 15/15 1
10-33195840-A-G c.2331+1456T>C - IntronicSNV - 15/15 1
10-33195877-C-A c.2331+1419G>T - IntronicSNV - 15/15 4
10-33195877-C-T c.2331+1419G>A - IntronicSNV - 15/15 6
10-33195987-G-A c.2331+1309C>T - IntronicSNV - 15/15 1
10-33195987-G-C c.2331+1309C>G - IntronicSNV - 15/15 1
10-33195999-A-G c.2331+1297T>C - IntronicSNV - 15/15 1
10-33196013-C-T c.2331+1283G>A - IntronicSNV - 15/15 1
10-33196014-G-A c.2331+1282C>T - IntronicSNV - 15/15 1
10-33196015-T-A c.2331+1281A>T - IntronicSNV - 15/15 1
10-33196017-C-T c.2331+1279G>A - IntronicSNV - 15/15 1
10-33196018-G-A c.2331+1278C>T - IntronicSNV - 15/15 1
10-33196024-T-C c.2331+1272A>G - IntronicSNV - 15/15 1
10-33196026-G-A c.2331+1270C>T - IntronicSNV - 15/15 1
10-33196030-C-T c.2331+1266G>A - IntronicSNV - 15/15 1
10-33196033-G-C c.2331+1263C>G - IntronicSNV - 15/15 1
10-33196036-A-G c.2331+1260T>C - IntronicSNV - 15/15 1
10-33196037-T-A c.2331+1259A>T - IntronicSNV - 15/15 1
10-33196047-G-C c.2331+1249C>G - IntronicSNV - 15/15 1
10-33196060-C-T c.2331+1236G>A - IntronicSNV - 15/15 2
10-33196061-G-A c.2331+1235C>T - IntronicSNV - 15/15 1
10-33196062-G-C c.2331+1234C>G - IntronicSNV - 15/15 1
10-33196108-GA-G c.2331+1187del - IntronicDeletion - 15/15 1
10-33196291-T-A c.2331+1005A>T - IntronicSNV - 15/15 2
10-33196291-T-G c.2331+1005A>C - IntronicSNV - 15/15 3
10-33196317-G-C c.2331+979C>G - IntronicSNV - 15/15 1
10-33197130-GCTTT-G c.2331+162_2331+165del - IntronicDeletion - 15/15 2
10-33197197-A-C c.2331+99T>G - IntronicSNV - 15/15 6
10-33197296-C-T c.2331G>A p.T777= Synonymous 15/16 - 1
10-33197297-G-A c.2330C>T p.T777M Missense 15/16 - 6
10-33197299-G-A c.2328C>T p.D776= Synonymous 15/16 - 1
10-33197301-C-T c.2326G>A p.D776N Missense 15/16 - 1
10-33197305-T-C c.2322A>G p.K774= Synonymous 15/16 - 1
10-33197317-T-A c.2310A>T p.K770N Missense 15/16 - 2
10-33197317-T-G c.2310A>C p.K770N Missense 15/16 - 3
10-33197323-C-A c.2304G>T p.K768N Missense 15/16 - 2
10-33197323-C-G c.2304G>C p.K768N Missense 15/16 - 3
10-33197324-T-C c.2303A>G p.K768R Missense 15/16 - 1
10-33197323-C-CT c.2303dup p.E769Gfs*11 Frameshift 15/16 - 2
10-33197332-T-C c.2295A>G p.K765= Synonymous 15/16 - 1
10-33197334-T-C c.2293A>G p.K765E Missense 15/16 - 4
10-33197336-G-T c.2291C>A p.A764D Missense 15/16 - 1
10-33197337-C-G c.2290G>C p.A764P Missense 15/16 - 1
10-33197341-C-A c.2286G>T p.E762D Missense 15/16 - 2
10-33197344-C-T c.2283G>A p.R761= Synonymous 15/16 - 1
10-33197351-T-A c.2276A>T p.D759V Missense 15/16 - 3
10-33197354-T-C c.2273A>G p.H758R Missense 15/16 - 1
10-33197363-A-G c.2264T>C p.M755T Missense 15/16 - 1
10-33197367-A-ATGTCCTCTC c.2259_2260insGAGAGGACA p.L753_L754insERT InFrameInsertion 15/16 - 1
10-33197370-G-A c.2257C>T p.L753F Missense 15/16 - 1
10-33197372-T-C c.2255A>G p.K752R Missense 15/16 - 1
10-33197377-T-C c.2250A>G p.I750M Missense 15/16 - 2
10-33197389-ATGC-A c.2236_2238del p.A746del InFrameDeletion 15/16 - 1
10-33197399-A-G c.2228T>C p.I743T Missense 15/16 - 1
10-33197403-G-A c.2224C>T p.L742F Missense 15/16 - 1
10-33197403-G-T c.2224C>A p.L742I Missense 15/16 - 1
10-33197411-C-G c.2216G>C p.G739A Missense 15/16 - 1
10-33197415-C-T c.2212G>A p.A738T Missense 15/16 - 1
10-33197417-AC-TT c.2209_2210delinsAA p.V737N Missense 15/16 - 4
10-33197418-C-T c.2209G>A p.V737I Missense 15/16 - 1
10-33197420-A-C c.2207T>G p.V736G Missense 15/16 - 1
10-33197420-A-G c.2207T>C p.V736A Missense 15/16 - 1
10-33197433-T-C c.2194A>G p.I732V Missense 15/16 - 1
10-33197435-G-A c.2192C>T p.P731L Missense 15/16 - 1
10-33197443-G-T c.2184C>A p.D728E Missense 15/16 - 1
10-33197449-A-C c.2178T>G p.G726= Synonymous 15/16 - 1
10-33197449-A-G c.2178T>C p.G726= Synonymous 15/16 - 1
10-33197449-A-T c.2178T>A p.G726= Synonymous 15/16 - 1
10-33197456-G-C c.2171C>G p.P724R Missense 15/16 - 1
10-33197461-AC-A c.2166del p.E722Dfs*12 Frameshift 15/16 - 1
10-33198911-T-C c.2164+240A>G - IntronicSNV - 14/15 2
10-33199151-C-CA c.2163_2164insT p.E722* SpliceDonorInsertion 14/16 - 1
10-33199151-C-CG c.2163_2164insC p.E722Rfs*38 SpliceDonorInsertion 14/16 - 1
10-33199151-C-T c.2164G>A p.E722K Missense 14/16 - 1
10-33199151-C-CT c.2163dup p.E722Rfs*38 SpliceDonorInsertion 14/16 - 1
10-33199156-T-G c.2159A>C p.N720T Missense 14/16 - 1
10-33199166-C-T c.2149G>A p.V717I Missense 14/16 - 3
10-33199170-AAC-CAT c.2143_2145delinsATG p.V715M Missense 14/16 - 1
10-33199172-C-T c.2143G>A p.V715I Missense 14/16 - 1
10-33199177-A-G c.2138T>C p.V713A Missense 14/16 - 1
10-33199179-C-A c.2136G>T p.E712D Missense 14/16 - 1
10-33199179-C-G c.2136G>C p.E712D Missense 14/16 - 1
10-33199181-C-T c.2134G>A p.E712K Missense 14/16 - 3
10-33199183-T-C c.2132A>G p.N711S Missense 14/16 - 2
10-33199184-T-C c.2131A>G p.N711D Missense 14/16 - 1
10-33199185-G-C c.2130C>G p.N710K Missense 14/16 - 1
10-33199185-G-T c.2130C>A p.N710K Missense 14/16 - 1
10-33199187-T-A c.2128A>T p.N710Y Missense 14/16 - 1
10-33199203-C-T c.2112G>A p.T704= Synonymous 14/16 - 1
10-33199209-A-C c.2106T>G p.Y702* Nonsense 14/16 - 3
10-33199209-A-T c.2106T>A p.Y702* Nonsense 14/16 - 2
10-33199212-G-A c.2103C>T p.F701= Synonymous 14/16 - 1
10-33199213-AA-GC c.2101_2102delinsGC p.F701A Missense 14/16 - 1
10-33199223-C-T c.2092G>A p.D698N Missense 14/16 - 4
10-33199224-G-C c.2091C>G p.D697E Missense 14/16 - 1
10-33199231-T-A c.2084A>T p.D695V Missense 14/16 - 1
10-33199233-C-T c.2082G>A p.K694= Synonymous 14/16 - 1
10-33199236-C-T c.2079G>A p.E693= Synonymous 14/16 - 1
10-33199237-T-A c.2078A>T p.E693V Missense 14/16 - 1
10-33199252-ACAGGAT-A c.2057_2062del p.D686_P687del InFrameDeletion 14/16 - 1
10-33199261-G-A c.2054C>T p.P685L Missense 14/16 - 1
10-33199265-G-A c.2050C>T p.Q684* Nonsense 14/16 - 2
10-33199265-G-C c.2050C>G p.Q684E Missense 14/16 - 7
10-33199266-G-A c.2049C>T p.V683= Synonymous 14/16 - 1
10-33199270-G-A c.2045C>T p.P682L Missense 14/16 - 2
10-33199275-G-C c.2040C>G p.P680= Synonymous 14/16 - 1
10-33199277-G-C c.2038C>G p.P680A Missense 14/16 - 1
10-33199278-T-G c.2037A>C p.L679F Missense 14/16 - 1
10-33199288-C-A c.2027G>T p.R676L Missense 14/16 - 1
10-33199295-C-G c.2020G>C p.E674Q Missense 14/16 - 1
10-33199297-A-G c.2018T>C p.V673A Missense 14/16 - 3
10-33199298-C-T c.2017G>A p.V673I Missense 14/16 - 1
10-33199303-G-A c.2012C>T p.T671I Missense 14/16 - 1
10-33199304-T-C c.2011A>G p.T671A Missense 14/16 - 2
10-33199308-G-A c.2007C>T p.N669= Synonymous 14/16 - 1
10-33199309-T-A c.2006A>T p.N669I Missense 14/16 - 3
10-33199310-T-G c.2005A>C p.N669H Missense 14/16 - 1
10-33199315-T-C c.2000A>G p.Y667C Missense 14/16 - 3
10-33199321-C-A c.1994G>T p.C665F Missense 14/16 - 1
10-33199322-A-G c.1993T>C p.C665R Missense 14/16 - 1
10-33199326-C-T c.1989G>A p.Q663= Synonymous 14/16 - 1
10-33199330-G-A c.1985C>T p.T662I Missense 14/16 - 2
10-33199340-C-G c.1975G>C p.D659H Missense 14/16 - 2
10-33199342-TT-GC c.1972_1973delinsGC p.K658A Missense 14/16 - 1
10-33199344-C-A c.1971G>T p.K657N Missense 14/16 - 1
10-33199346-T-C c.1969A>G p.K657E Missense 14/16 - 1
10-33199350-T-C c.1965A>G p.G655= Synonymous 14/16 - 1
10-33199354-T-TGC c.1960_1961insGC p.K654Sfs*21 Frameshift 14/16 - 1
10-33199357-T-C c.1958A>G p.N653S Missense 14/16 - 4
10-33199361-A-G c.1954T>C p.F652L Missense 14/16 - 1
10-33199364-C-G c.1951G>C p.A651P Missense 14/16 - 1
10-33199367-T-C c.1948A>G p.R650G Missense 14/16 - 1
10-33199371-C-T c.1944G>A p.Q648= Synonymous 14/16 - 1
10-33199372-T-C c.1943A>G p.Q648R Missense 14/16 - 1
10-33199373-G-A c.1942C>T p.Q648* Nonsense 14/16 - 1
10-33199376-C-T c.1939G>A p.V647I Missense 14/16 - 1
10-33199383-T-A c.1932A>T p.K644N Missense 14/16 - 1
10-33199383-T-G c.1932A>C p.K644N Missense 14/16 - 1
10-33200368-A-G c.1931+8T>C - IntronicSNV - 13/15 1
10-33200385-G-A c.1922C>T p.A641V Missense 13/16 - 1
10-33200399-G-T c.1908C>A p.C636* Nonsense 13/16 - 1
10-33200424-T-A c.1883A>T p.Q628L Missense 13/16 - 1
10-33200428-C-T c.1879G>A p.G627R Missense 13/16 - 4
10-33200431-G-A c.1876C>T p.Q626* Nonsense 13/16 - 1
10-33200433-A-G c.1874T>C p.F625S Missense 13/16 - 1
10-33200439-G-A c.1868C>T p.P623L Missense 13/16 - 2
10-33200440-G-C c.1867C>G p.P623A Missense 13/16 - 1
10-33200449-A-T c.1858T>A p.C620S Missense 13/16 - 1
10-33200458-C-A c.1849G>T p.V617F Missense 13/16 - 3
10-33200464-A-G c.1843T>C p.C615R Missense 13/16 - 1
10-33200467-C-T c.1840G>A p.E614K Missense 13/16 - 4
10-33200468-G-A c.1839C>T p.C613= Synonymous 13/16 - 9
10-33200472-A-G c.1835T>C p.I612T Missense 13/16 - 1
10-33200474-G-A c.1833C>T p.G611= Synonymous 13/16 - 1
10-33200476-C-T c.1831G>A p.G611S Missense 13/16 - 1
10-33200478-C-T c.1829G>A p.R610Q Missense 13/16 - 3
10-33200481-C-T c.1826G>A p.G609D Missense 13/16 - 2
10-33200482-C-A c.1825G>T p.G609C Missense 13/16 - 1
10-33200484-T-C c.1823A>G p.N608S Missense 13/16 - 1
10-33200487-C-A c.1820G>T p.C607F Missense 13/16 - 1
10-33200496-C-T c.1811G>A p.G604E Missense 13/16 - 1
10-33200497-C-A c.1810G>T p.G604* Nonsense 13/16 - 1
10-33200497-C-T c.1810G>A p.G604R Missense 13/16 - 2
10-33200498-G-A c.1809C>T p.N603= Synonymous 13/16 - 1
10-33200506-C-A c.1801G>T p.A601S Missense 13/16 - 1
10-33200506-C-T c.1801G>A p.A601T Missense 13/16 - 1
10-33200509-C-T c.1798G>A p.E600K Missense 13/16 - 3
10-33200520-G-C c.1787C>G p.T596S Missense 13/16 - 1
10-33200521-T-A c.1786A>T p.T596S Missense 13/16 - 1
10-33200524-C-T c.1783G>A p.D595N Missense 13/16 - 1
10-33200525-C-A c.1782G>T p.L594F Missense 13/16 - 2
10-33200525-C-G c.1782G>C p.L594F Missense 13/16 - 1
10-33200531-A-G c.1776T>C p.C592= Synonymous 13/16 - 2
10-33200536-C-T c.1771G>A p.D591N Missense 13/16 - 1
10-33200538-CA-GT c.1768_1769delinsAC p.C590T Missense 13/16 - 1
10-33200555-G-A c.1752C>T p.N584= Synonymous 13/16 - 1
10-33200558-G-A c.1749C>T p.P583= Synonymous 13/16 - 3
10-33200558-G-C c.1749C>G p.P583= Synonymous 13/16 - 1
10-33200565-CA-GT c.1741_1742delinsAC p.C581T Missense 13/16 - 1
10-33200566-A-G c.1741T>C p.C581R Missense 13/16 - 1
10-33200576-AC-TT c.1730_1731delinsAA p.R577Q Missense 13/16 - 1
10-33200577-C-G c.1730G>C p.R577P Missense 13/16 - 1
10-33200577-C-T c.1730G>A p.R577H Missense 13/16 - 3
10-33200579-A-G c.1728T>C p.C576= Synonymous 13/16 - 1
10-33200585-G-A c.1722C>T p.C574= Synonymous 13/16 - 1
10-33200782-C-T c.1708+32G>A - IntronicSNV - 12/15 6
10-33200828-C-T c.1694G>A p.G565D Missense 12/16 - 1
10-33200831-T-C c.1691A>G p.N564S Missense 12/16 - 1
10-33200841-C-T c.1681G>A p.D561N Missense 12/16 - 1
10-33200848-G-A c.1674C>T p.F558= Synonymous 12/16 - 2
10-33200851-A-C c.1671T>G p.N557K Missense 12/16 - 1
10-33200852-T-G c.1670A>C p.N557T Missense 12/16 - 1
10-33200854-A-C c.1668T>G p.D556E Missense 12/16 - 1
10-33200854-A-T c.1668T>A p.D556E Missense 12/16 - 1
10-33200859-A-G c.1663T>C p.C555R Missense 12/16 - 1
10-33200862-C-T c.1660G>A p.E554K Missense 12/16 - 1
10-33200865-A-G c.1657T>C p.C553R Missense 12/16 - 1
10-33200866-G-A c.1656C>T p.F552= Synonymous 12/16 - 2
10-33200866-G-C c.1656C>G p.F552L Missense 12/16 - 1
10-33200866-G-T c.1656C>A p.F552L Missense 12/16 - 1
10-33200868-A-G c.1654T>C p.F552L Missense 12/16 - 1
10-33200872-G-T c.1650C>A p.G550= Synonymous 12/16 - 1
10-33200878-A-G c.1644T>C p.Y548= Synonymous 12/16 - 1
10-33200881-A-C c.1641T>G p.I547M Missense 12/16 - 2
10-33200886-C-T c.1636G>A p.E546K Missense 12/16 - 3
10-33200895-T-C c.1627A>G p.N543D Missense 12/16 - 1
10-33200904-T-C c.1618A>G p.K540E Missense 12/16 - 1
10-33200909-C-A c.1613G>T p.C538F Missense 12/16 - 2
10-33200921-C-T c.1601G>A p.G534E Missense 12/16 - 1
10-33200922-C-G c.1600G>C p.G534R Missense 12/16 - 1
10-33200922-C-T c.1600G>A p.G534R Missense 12/16 - 1
10-33200923-G-A c.1599C>T p.C533= Synonymous 12/16 - 1
10-33200924-CA-GT c.1597_1598delinsAC p.C533T Missense 12/16 - 1
10-33200925-A-G c.1597T>C p.C533R Missense 12/16 - 1
10-33200926-G-A c.1596C>T p.V532= Synonymous 12/16 - 2
10-33200926-G-C c.1596C>G p.V532= Synonymous 12/16 - 1
10-33200926-G-T c.1596C>A p.V532= Synonymous 12/16 - 1
10-33200928-C-T c.1594G>A p.V532I Missense 12/16 - 1
10-33200929-G-A c.1593C>T p.C531= Synonymous 12/16 - 3
10-33200932-C-T c.1590G>A p.E530= Synonymous 12/16 - 1
10-33200933-T-C c.1589A>G p.E530G Missense 12/16 - 1
10-33200937-C-G c.1585G>C p.G529R Missense 12/16 - 1
10-33200939-T-C c.1583A>G p.N528S Missense 12/16 - 1
10-33200941-G-A c.1581C>T p.N527= Synonymous 12/16 - 1
10-33200944-A-C c.1578T>G p.S526R Missense 12/16 - 1
10-33200944-A-T c.1578T>A p.S526R Missense 12/16 - 1
10-33200946-T-G c.1576A>C p.S526R Missense 12/16 - 1
10-33200946-T-C c.1576A>G p.S526G Missense 12/16 - 2
10-33200960-C-T c.1562G>A p.S521N Missense 12/16 - 3
10-33200963-T-C c.1559A>G p.N520S Missense 12/16 - 1
10-33200962-GT-G c.1559del p.N520Tfs*47 Frameshift 12/16 - 1
10-33200968-T-C c.1554A>G p.K518= Synonymous 12/16 - 1
10-33200971-CCT-ACA c.1549_1551delinsTGT p.R517C Missense 12/16 - 1
10-33200982-C-A c.1540G>T p.A514S Missense 12/16 - 1
10-33201009-C-A c.1513G>T p.D505Y Missense 12/16 - 1
10-33201009-C-G c.1513G>C p.D505H Missense 12/16 - 1
10-33201011-G-A c.1511C>T p.T504I Missense 12/16 - 1
10-33201011-G-T c.1511C>A p.T504K Missense 12/16 - 1
10-33201013-TG-T c.1509del p.S503Rfs*64 Frameshift 12/16 - 1
10-33201016-G-A c.1506C>T p.C502= Synonymous 12/16 - 1
10-33201023-CA-GT c.1498_1499delinsAC p.C500T Missense 12/16 - 1
10-33201026-T-A c.1496A>T p.H499L Missense 12/16 - 4
10-33201036-C-A c.1486G>T p.V496F Missense 12/16 - 1
10-33201037-ACG-CCA c.1483_1485delinsTGG p.R495W Missense 12/16 - 1
10-33201037-AC-TT c.1484_1485delinsAA p.R495Q Missense 12/16 - 1
10-33201039-G-A c.1483C>T p.R495C Missense 12/16 - 4
10-33201041-C-A c.1481G>T p.G494V Missense 12/16 - 1
10-33201042-C-G c.1480G>C p.G494R Missense 12/16 - 1
10-33201042-C-T c.1480G>A p.G494R Missense 12/16 - 1
10-33201043-T-C c.1479A>G p.E493= Synonymous 12/16 - 1
10-33201049-G-A c.1473C>T p.C491= Synonymous 12/16 - 1
10-33201123-A-G c.1470-71T>C - IntronicSNV - 11/15 1
10-33201128-C-G c.1470-76G>C - IntronicSNV - 11/15 6
10-33201152-G-A c.1470-100C>T - IntronicSNV - 11/15 1
10-33201257-G-A c.1470-205C>T - IntronicSNV - 11/15 1
10-33201338-G-C c.1470-286C>G - IntronicSNV - 11/15 1
10-33207497-T-A c.1469+1316A>T - IntronicSNV - 11/15 1
10-33207497-T-C c.1469+1316A>G - IntronicSNV - 11/15 1
10-33208720-T-C c.1469+93A>G - IntronicSNV - 11/15 4
10-33208810-T-C c.1469+3A>G - IntronicSNV - 11/15 1
10-33208813-C-T c.1469G>A p.R490K Missense 11/16 - 2
10-33208820-C-T c.1462G>A p.A488T Missense 11/16 - 3
10-33208821-G-A c.1461C>T p.G487= Synonymous 11/16 - 1
10-33208822-C-T c.1460G>A p.G487D Missense 11/16 - 1
10-33208825-C-T c.1457G>A p.C486Y Missense 11/16 - 1
10-33208849-T-C c.1433A>G p.H478R Missense 11/16 - 2
10-33208858-G-A c.1424C>T p.P475L Missense 11/16 - 1
10-33208859-G-A c.1423C>T p.P475S Missense 11/16 - 1
10-33208861-C-T c.1421G>A p.S474N Missense 11/16 - 1
10-33208863-T-A c.1419A>T p.E473D Missense 11/16 - 2
10-33208863-T-G c.1419A>C p.E473D Missense 11/16 - 1
10-33208866-A-G c.1416T>C p.P472= Synonymous 11/16 - 1
10-33208871-T-C c.1411A>G p.I471V Missense 11/16 - 2
10-33208896-A-G c.1386T>C p.C462= Synonymous 11/16 - 2
10-33208897-C-T c.1385G>A p.C462Y Missense 11/16 - 1
10-33208907-G-A c.1375C>T p.Q459* Nonsense 11/16 - 1
10-33208914-TAACCTCTAC-T c.1360_1368del p.V454_V456del InFrameDeletion 11/16 - 1
10-33208915-A-G c.1367T>C p.V456A Missense 11/16 - 1
10-33208917-C-G c.1365G>C p.E455D Missense 11/16 - 1
10-33208918-T-A c.1364A>T p.E455V Missense 11/16 - 1
10-33208924-T-C c.1358A>G p.E453G Missense 11/16 - 1
10-33208930-G-A c.1352C>T p.T451M Missense 11/16 - 2
10-33208938-C-A c.1344G>T p.L448= Synonymous 11/16 - 1
10-33208938-C-G c.1344G>C p.L448= Synonymous 11/16 - 1
10-33208938-C-T c.1344G>A p.L448= Synonymous 11/16 - 1
10-33208940-G-A c.1342C>T p.L448= Synonymous 11/16 - 1
10-33208941-A-C c.1341T>G p.P447= Synonymous 11/16 - 2
10-33208941-A-G c.1341T>C p.P447= Synonymous 11/16 - 1
10-33208941-A-T c.1341T>A p.P447= Synonymous 11/16 - 1
10-33208944-C-T c.1338G>A p.R446= Synonymous 11/16 - 2
10-33208948-A-T c.1334T>A p.I445N Missense 11/16 - 1
10-33208950-T-G c.1332A>C p.K444N Missense 11/16 - 1
10-33208960-T-A c.1322A>T p.D441V Missense 11/16 - 1
10-33208961-C-G c.1321G>C p.D441H Missense 11/16 - 1
10-33208963-G-T c.1319C>A p.S440Y Missense 11/16 - 1
10-33208963-GA-G c.1318del p.S440Lfs*15 Frameshift 11/16 - 1
10-33208965-A-G c.1317T>C p.D439= Synonymous 11/16 - 1
10-33208967-C-T c.1315G>A p.D439N Missense 11/16 - 2
10-33208968-C-A c.1314G>T p.K438N Missense 11/16 - 1
10-33208968-C-G c.1314G>C p.K438N Missense 11/16 - 1
10-33208970-T-TA c.1311_1312insT p.K438* Nonsense 11/16 - 1
10-33208973-T-C c.1309A>G p.K437E Missense 11/16 - 2
10-33208968-C-CT c.1313dup p.D439Gfs*3 Frameshift 11/16 - 1
10-33208968-CT-C c.1313del p.K438Rfs*17 Frameshift 11/16 - 3
10-33208982-T-G c.1300A>C p.K434Q Missense 11/16 - 1
10-33208993-A-G c.1289T>C p.I430T Missense 11/16 - 3
10-33208996-C-A c.1286G>T p.S429I Missense 11/16 - 2
10-33208996-C-T c.1286G>A p.S429N Missense 11/16 - 1
10-33209001-T-G c.1281A>C p.E427D Missense 11/16 - 1
10-33209169-A-G c.1269+4T>C - IntronicSNV - 10/15 1
10-33209186-G-A c.1256C>T p.S419F Missense 10/16 - 1
10-33209192-T-C c.1250A>G p.N417S Missense 10/16 - 2
10-33209202-T-TA c.1239_1240insT p.K414* Nonsense 10/16 - 1
10-33209204-C-A c.1238G>T p.R413I Missense 10/16 - 1
10-33209204-CT-TG c.1237_1238delinsCA p.R413Q Missense 10/16 - 1
10-33209221-T-C c.1221A>G p.G407= Synonymous 10/16 - 1
10-33209228-A-G c.1214T>C p.V405A Missense 10/16 - 1
10-33209228-A-AC c.1213dup p.V405Gfs*19 Frameshift 10/16 - 1
10-33209232-C-T c.1210G>A p.G404R Missense 10/16 - 1
10-33209233-G-A c.1209C>T p.N403= Synonymous 10/16 - 2
10-33209233-G-C c.1209C>G p.N403K Missense 10/16 - 1
10-33209233-G-T c.1209C>A p.N403K Missense 10/16 - 1
10-33209235-T-C c.1207A>G p.N403D Missense 10/16 - 1
10-33209236-C-T c.1206G>A p.K402= Synonymous 10/16 - 2
10-33209239-G-T c.1203C>A p.C401* Nonsense 10/16 - 3
10-33209240-C-A c.1202G>T p.C401F Missense 10/16 - 1
10-33209240-CA-GT c.1201_1202delinsAC p.C401T Missense 10/16 - 1
10-33209240-C-T c.1202G>A p.C401Y Missense 10/16 - 1
10-33209247-A-C c.1195T>G p.S399A Missense 10/16 - 1
10-33209249-T-C c.1193A>G p.K398R Missense 10/16 - 1
10-33209251-GTA-CTC c.1189_1191delinsGAG p.Y397E Missense 10/16 - 1
10-33209252-T-A c.1190A>T p.Y397F Missense 10/16 - 3
10-33209255-C-T c.1187G>A p.S396N Missense 10/16 - 1
10-33209257-T-C c.1185A>G p.I395M Missense 10/16 - 4
10-33209260-TG-GT c.1181_1182delinsAC p.T394N Missense 10/16 - 1
10-33209266-G-A c.1176C>T p.G392= Synonymous 10/16 - 1
10-33209266-G-C c.1176C>G p.G392= Synonymous 10/16 - 24
10-33209266-G-T c.1176C>A p.G392= Synonymous 10/16 - 28
10-33209282-C-T c.1160G>A p.G387D Missense 10/16 - 3
10-33209284-G-A c.1158C>T p.N386= Synonymous 10/16 - 3
10-33209290-CAA-ATG c.1150_1152delinsCAT p.L384H Missense 10/16 - 1
10-33209295-T-A c.1147A>T p.I383F Missense 10/16 - 2
10-33209303-G-T c.1139C>A p.S380* Nonsense 10/16 - 1
10-33209305-G-A c.1137C>T p.S379= Synonymous 10/16 - 1
10-33209305-G-C c.1137C>G p.S379= Synonymous 10/16 - 1
10-33209305-G-T c.1137C>A p.S379= Synonymous 10/16 - 1
10-33209310-G-C c.1132C>G p.L378V Missense 10/16 - 1
10-33209310-G-T c.1132C>A p.L378I Missense 10/16 - 8
10-33211004-T-C c.1128+181A>G - IntronicSNV - 9/15 1
10-33211183-A-G c.1128+2T>C - IntronicSNV - 9/15 1
10-33211190-A-C c.1123T>G p.Y375D Missense 9/16 - 1
10-33211192-GC-AG c.1120_1121delinsCT p.A374L Missense 9/16 - 1
10-33211192-G-T c.1121C>A p.A374E Missense 9/16 - 1
10-33211193-C-T c.1120G>A p.A374T Missense 9/16 - 1
10-33211196-C-T c.1117G>A p.D373N Missense 9/16 - 1
10-33211200-G-C c.1113C>G p.I371M Missense 9/16 - 3
10-33211203-C-A c.1110G>T p.L370F Missense 9/16 - 1
10-33211203-C-G c.1110G>C p.L370F Missense 9/16 - 1
10-33211203-C-T c.1110G>A p.L370= Synonymous 9/16 - 3
10-33211205-A-G c.1108T>C p.L370= Synonymous 9/16 - 1
10-33211216-T-C c.1097A>G p.N366S Missense 9/16 - 2
10-33211227-T-A c.1086A>T p.A362= Synonymous 9/16 - 12
10-33211227-T-C c.1086A>G p.A362= Synonymous 9/16 - 2
10-33211227-T-G c.1086A>C p.A362= Synonymous 9/16 - 14
10-33211231-G-A c.1082C>T p.S361F Missense 9/16 - 2
10-33211246-G-C c.1067C>G p.A356G Missense 9/16 - 1
10-33211248-T-A c.1065A>T p.S355= Synonymous 9/16 - 1
10-33211248-T-C c.1065A>G p.S355= Synonymous 9/16 - 1
10-33211248-T-G c.1065A>C p.S355= Synonymous 9/16 - 1
10-33211250-A-G c.1063T>C p.S355P Missense 9/16 - 2
10-33211252-TT-GC c.1060_1061delinsGC p.K354A Missense 9/16 - 1
10-33211255-G-A c.1058C>T p.P353L Missense 9/16 - 2
10-33211256-G-A c.1057C>T p.P353S Missense 9/16 - 2
10-33211257-G-A c.1056C>T p.I352= Synonymous 9/16 - 2
10-33211257-G-T c.1056C>A p.I352= Synonymous 9/16 - 1
10-33211260-C-A c.1053G>T p.L351F Missense 9/16 - 1
10-33211264-T-C c.1049A>G p.N350S Missense 9/16 - 1
10-33211272-C-A c.1041G>T p.E347D Missense 9/16 - 2
10-33211272-C-G c.1041G>C p.E347D Missense 9/16 - 1
10-33211440-T-C c.1038+128A>G - IntronicSNV - 8/15 6
10-33211570-T-C c.1036A>G p.K346E Missense 8/16 - 1
10-33211578-G-T c.1028C>A p.P343H Missense 8/16 - 1
10-33211588-C-G c.1018G>C p.E340Q Missense 8/16 - 1
10-33211594-T-G c.1012A>C p.T338P Missense 8/16 - 1
10-33211600-C-T c.1006G>A p.A336T Missense 8/16 - 1
10-33211606-T-C c.1000A>G p.I334V Missense 8/16 - 1
10-33211607-T-A c.999A>T p.T333= Synonymous 8/16 - 1
10-33211607-T-C c.999A>G p.T333= Synonymous 8/16 - 1
10-33211607-T-G c.999A>C p.T333= Synonymous 8/16 - 1
10-33211610-C-A c.996G>T p.Q332H Missense 8/16 - 1
10-33211610-C-G c.996G>C p.Q332H Missense 8/16 - 1
10-33211615-T-A c.991A>T p.I331F Missense 8/16 - 2
10-33211622-T-C c.984A>G p.E328= Synonymous 8/16 - 1
10-33211636-G-C c.970C>G p.Q324E Missense 8/16 - 1
10-33211645-G-A c.961C>T p.H321Y Missense 8/16 - 1
10-33211645-G-T c.961C>A p.H321N Missense 8/16 - 1
10-33211647-G-A c.959C>T p.A320V Missense 8/16 - 1
10-33211651-T-C c.955A>G p.I319V Missense 8/16 - 7
10-33211657-G-A c.949C>T p.P317S Missense 8/16 - 1
10-33211659-T-C c.947A>G p.Y316C Missense 8/16 - 1
10-33211663-C-T c.943G>A p.D315N Missense 8/16 - 1
10-33212505-G-A c.942+8C>T - IntronicSNV - 7/15 1
10-33212522-G-C c.933C>G p.S311R Missense 7/16 - 1
10-33212522-G-T c.933C>A p.S311R Missense 7/16 - 1
10-33212524-T-G c.931A>C p.S311R Missense 7/16 - 1
10-33212525-C-A c.930G>T p.M310I Missense 7/16 - 1
10-33212525-C-G c.930G>C p.M310I Missense 7/16 - 1
10-33212525-C-T c.930G>A p.M310I Missense 7/16 - 1
10-33212526-A-G c.929T>C p.M310T Missense 7/16 - 3
10-33212529-GT-CC c.925_926delinsGG p.T309G Missense 7/16 - 1
10-33212533-A-G c.922T>C p.Y308H Missense 7/16 - 1
10-33212541-T-G c.914A>C p.N305T Missense 7/16 - 1
10-33212543-T-C c.912A>G p.E304= Synonymous 7/16 - 1
10-33212549-G-A c.906C>T p.H302= Synonymous 7/16 - 1
10-33212553-C-T c.902G>A p.C301Y Missense 7/16 - 1
10-33212559-C-T c.896G>A p.G299E Missense 7/16 - 1
10-33212560-C-G c.895G>C p.G299R Missense 7/16 - 1
10-33212563-C-A c.892G>T p.D298Y Missense 7/16 - 1
10-33212564-ATT-TTG c.889_891delinsCAA p.N297Q Missense 7/16 - 1
10-33212567-T-G c.888A>C p.P296= Synonymous 7/16 - 1
10-33212575-C-T c.880G>A p.V294I Missense 7/16 - 1
10-33212579-G-A c.876C>T p.G292= Synonymous 7/16 - 1
10-33212581-C-A c.874G>T p.G292C Missense 7/16 - 1
10-33212595-T-G c.860A>C p.D287A Missense 7/16 - 1
10-33212596-C-T c.859G>A p.D287N Missense 7/16 - 2
10-33212601-G-C c.854C>G p.A285G Missense 7/16 - 1
10-33212615-G-A c.840C>T p.A280= Synonymous 7/16 - 1
10-33212617-C-T c.838G>A p.A280T Missense 7/16 - 1
10-33212619-T-G c.836A>C p.D279A Missense 7/16 - 1
10-33212621-T-C c.834A>G p.T278= Synonymous 7/16 - 1
10-33212625-G-A c.830C>T p.S277F Missense 7/16 - 2
10-33212627-A-C c.828T>G p.F276L Missense 7/16 - 5
10-33212627-A-T c.828T>A p.F276L Missense 7/16 - 5
10-33212629-A-G c.826T>C p.F276L Missense 7/16 - 8
10-33212633-CA-AT c.821_822delinsAT p.L274H Missense 7/16 - 1
10-33212639-C-T c.816G>A p.R272= Synonymous 7/16 - 1
10-33212640-C-T c.815G>A p.R272Q Missense 7/16 - 1
10-33212641-G-A c.814C>T p.R272W Missense 7/16 - 2
10-33212646-A-G c.809T>C p.V270A Missense 7/16 - 1
10-33212648-A-G c.807T>C p.N269= Synonymous 7/16 - 1
10-33212652-CT-TG c.802_803delinsCA p.R268Q Missense 7/16 - 1
10-33212662-T-C c.793A>G p.I265V Missense 7/16 - 2
10-33212663-CAG-AAA c.790_792delinsTTT p.L264F Missense 7/16 - 1
10-33212663-C-G c.792G>C p.L264= Synonymous 7/16 - 1
10-33212667-G-A c.788C>T p.S263L Missense 7/16 - 1
10-33212667-GA-CC c.787_788delinsGG p.S263G Missense 7/16 - 1
10-33212668-A-G c.787T>C p.S263P Missense 7/16 - 1
10-33213251-C-T c.787-583G>A - IntronicSNV - 6/15 1
10-33213438-C-T c.787-770G>A - IntronicSNV - 6/15 1
10-33213680-G-A c.787-1012C>T - IntronicSNV - 6/15 1
10-33213965-G-C c.786+834C>G - IntronicSNV - 6/15 1
10-33214797-A-G c.786+2T>C - IntronicSNV - 6/15 1
10-33214802-A-G c.783T>C p.C261= Synonymous 6/16 - 15
10-33214807-C-T c.778G>A p.V260I Missense 6/16 - 4
10-33214809-G-A c.776C>T p.A259V Missense 6/16 - 2
10-33214810-C-T c.775G>A p.A259T Missense 6/16 - 1
10-33214820-G-C c.765C>G p.I255M Missense 6/16 - 1
10-33214821-A-G c.764T>C p.I255T Missense 6/16 - 1
10-33214823-G-A c.762C>T p.A254= Synonymous 6/16 - 3
10-33214823-G-C c.762C>G p.A254= Synonymous 6/16 - 1
10-33214823-G-T c.762C>A p.A254= Synonymous 6/16 - 2
10-33214828-C-T c.757G>A p.D253N Missense 6/16 - 2
10-33214829-G-A c.756C>T p.F252= Synonymous 6/16 - 3
10-33214829-G-T c.756C>A p.F252L Missense 6/16 - 1
10-33214834-C-T c.751G>A p.G251S Missense 6/16 - 1
10-33214835-A-G c.750T>C p.G250= Synonymous 6/16 - 1
10-33214840-C-T c.745G>A p.E249K Missense 6/16 - 1
10-33214848-T-G c.737A>C p.D246A Missense 6/16 - 1
10-33214852-A-C c.733T>G p.L245V Missense 6/16 - 1
10-33214855-T-C c.730A>G p.N244D Missense 6/16 - 1
10-33214856-TC-GT c.728_729delinsAC p.G243D Missense 6/16 - 1
10-33214860-G-A c.725C>T p.S242F Missense 6/16 - 1
10-33214861-A-T c.724T>A p.S242T Missense 6/16 - 1
10-33214866-C-T c.719G>A p.R240H Missense 6/16 - 5
10-33214867-G-A c.718C>T p.R240C Missense 6/16 - 5
10-33214868-C-T c.717G>A p.Q239= Synonymous 6/16 - 1
10-33214875-C-G c.710G>C p.G237A Missense 6/16 - 1
10-33214878-A-G c.707T>C p.V236A Missense 6/16 - 7
10-33214883-T-C c.702A>G p.E234= Synonymous 6/16 - 1
10-33214884-T-C c.701A>G p.E234G Missense 6/16 - 1
10-33214885-C-G c.700G>C p.E234Q Missense 6/16 - 1
10-33214886-A-G c.699T>C p.N233= Synonymous 6/16 - 1
10-33214891-A-T c.694T>A p.F232I Missense 6/16 - 1
10-33214894-C-T c.691G>A p.V231I Missense 6/16 - 1
10-33214905-T-A c.680A>T p.N227I Missense 6/16 - 3
10-33214910-A-C c.675T>G p.L225= Synonymous 6/16 - 1
10-33214910-A-G c.675T>C p.L225= Synonymous 6/16 - 1
10-33214910-A-T c.675T>A p.L225= Synonymous 6/16 - 1
10-33214917-A-G c.668T>C p.L223P Missense 6/16 - 1
10-33214918-G-A c.667C>T p.L223F Missense 6/16 - 1
10-33214926-T-G c.659A>C p.K220T Missense 6/16 - 1
10-33214929-T-C c.656A>G p.Y219C Missense 6/16 - 1
10-33214930-A-G c.655T>C p.Y219H Missense 6/16 - 1
10-33214935-AA-GC c.649_650delinsGC p.F217A Missense 6/16 - 1
10-33214944-G-C c.641C>G p.T214S Missense 6/16 - 1
10-33214945-T-A c.640A>T p.T214S Missense 6/16 - 1
10-33214954-G-T c.631C>A p.Q211K Missense 6/16 - 1
10-33214957-C-T c.628G>A p.E210K Missense 6/16 - 1
10-33214959-C-T c.626G>A p.S209N Missense 6/16 - 1
10-33214962-G-A c.623C>T p.T208I Missense 6/16 - 2
10-33214967-A-G c.618T>C p.P206= Synonymous 6/16 - 1
10-33214971-T-A c.614A>T p.N205I Missense 6/16 - 1
10-33214972-T-C c.613A>G p.N205D Missense 6/16 - 1
10-33214973-CCT-ATG c.610_612delinsCAT p.R204H Missense 6/16 - 1
10-33214974-C-T c.611G>A p.R204K Missense 6/16 - 1
10-33214986-G-A c.599C>T p.P200L Missense 6/16 - 1
10-33214991-T-A c.594A>T p.T198= Synonymous 6/16 - 1
10-33214991-T-C c.594A>G p.T198= Synonymous 6/16 - 1
10-33214991-T-G c.594A>C p.T198= Synonymous 6/16 - 1
10-33215004-G-A c.581C>T p.P194L Missense 6/16 - 1
10-33215004-G-C c.581C>G p.P194R Missense 6/16 - 3
10-33215020-C-T c.565G>A p.E189K Missense 6/16 - 1
10-33215023-C-A c.562G>T p.V188L Missense 6/16 - 1
10-33215026-A-T c.559T>A p.F187I Missense 6/16 - 1
10-33215027-TGA-GTT c.556_558delinsAAC p.S186N Missense 6/16 - 1
10-33215028-G-C c.557C>G p.S186* Nonsense 6/16 - 1
10-33215031-C-T c.554G>A p.G185D Missense 6/16 - 1
10-33217025-T-G c.544A>C p.I182L Missense 5/16 - 2
10-33217026-TCT-ACA c.541_543delinsTGT p.R181C Missense 5/16 - 1
10-33217027-C-T c.542G>A p.R181K Missense 5/16 - 1
10-33217027-CT-AG c.541_542inv p.R181L Missense 5/16 - 1
10-33217029-G-C c.540C>G p.F180L Missense 5/16 - 1
10-33217030-AA-GC c.538_539delinsGC p.F180A Missense 5/16 - 1
10-33217038-A-C c.531T>G p.T177= Synonymous 5/16 - 1
10-33217038-A-G c.531T>C p.T177= Synonymous 5/16 - 1
10-33217038-A-T c.531T>A p.T177= Synonymous 5/16 - 2
10-33217041-A-G c.528T>C p.I176= Synonymous 5/16 - 1
10-33217044-CCT-ATG c.523_525delinsCAT p.R175H Missense 5/16 - 1
10-33217048-C-A c.521G>T p.R174M Missense 5/16 - 1
10-33217050-C-T c.519G>A p.M173I Missense 5/16 - 2
10-33217051-A-T c.518T>A p.M173K Missense 5/16 - 2
10-33217068-TG-CA c.500_501inv p.T167M Missense 5/16 - 1
10-33217069-G-C c.500C>G p.T167R Missense 5/16 - 2
10-33217072-C-T c.497G>A p.G166E Missense 5/16 - 1
10-33217078-C-T c.491G>A p.S164N Missense 5/16 - 1
10-33217081-T-G c.488A>C p.K163T Missense 5/16 - 3
10-33217082-T-G c.487A>C p.K163Q Missense 5/16 - 1
10-33217084-A-C c.485T>G p.V162G Missense 5/16 - 2
10-33217097-C-T c.472G>A p.D158N Missense 5/16 - 11
10-33217098-G-A c.471C>T p.D157= Synonymous 5/16 - 5
10-33217104-C-T c.465G>A p.M155I Missense 5/16 - 1
10-33217110-G-A c.459C>T p.Y153= Synonymous 5/16 - 14
10-33217110-G-C c.459C>G p.Y153* Nonsense 5/16 - 6
10-33217111-TAAG-T c.455_457del p.S152del InFrameDeletion 5/16 - 1
10-33217114-G-C c.455C>G p.S152C Missense 5/16 - 1
10-33217116-C-A c.453G>T p.L151= Synonymous 5/16 - 2
10-33217117-A-G c.452T>C p.L151P Missense 5/16 - 1
10-33217118-G-A c.451C>T p.L151= Synonymous 5/16 - 1
10-33217120-T-C c.449A>G p.D150G Missense 5/16 - 3
10-33217120-T-G c.449A>C p.D150A Missense 5/16 - 1
10-33217122-C-A c.447G>T p.M149I Missense 5/16 - 7
10-33217122-C-G c.447G>C p.M149I Missense 5/16 - 2
10-33217122-C-T c.447G>A p.M149I Missense 5/16 - 3
10-33217124-T-A c.445A>T p.M149L Missense 5/16 - 5
10-33217124-T-C c.445A>G p.M149V Missense 5/16 - 5
10-33217124-T-G c.445A>C p.M149L Missense 5/16 - 6
10-33217140-A-G c.429T>C p.I143= Synonymous 5/16 - 2
10-33217140-A-T c.429T>A p.I143= Synonymous 5/16 - 2
10-33217145-G-A c.424C>T p.P142S Missense 5/16 - 3
10-33217145-G-T c.424C>A p.P142T Missense 5/16 - 1
10-33217150-T-C c.419A>G p.D140G Missense 5/16 - 1
10-33217155-A-C c.414T>G p.A138= Synonymous 5/16 - 1
10-33217155-A-G c.414T>C p.A138= Synonymous 5/16 - 1
10-33217155-A-T c.414T>A p.A138= Synonymous 5/16 - 1
10-33217156-G-T c.413C>A p.A138D Missense 5/16 - 1
10-33217164-G-C c.405C>G p.F135L Missense 5/16 - 1
10-33217164-G-T c.405C>A p.F135L Missense 5/16 - 1
10-33217166-A-G c.403T>C p.F135L Missense 5/16 - 1
10-33217167-T-A c.402A>T p.K134N Missense 5/16 - 1
10-33217167-T-G c.402A>C p.K134N Missense 5/16 - 1
10-33217173-TG-GT c.395_396delinsAC p.T132N Missense 5/16 - 1
10-33217181-T-G c.388A>C p.T130P Missense 5/16 - 2
10-33217185-T-A c.384A>T p.P128= Synonymous 5/16 - 3
10-33217185-T-C c.384A>G p.P128= Synonymous 5/16 - 4
10-33217185-T-G c.384A>C p.P128= Synonymous 5/16 - 3
10-33217186-G-T c.383C>A p.P128Q Missense 5/16 - 1
10-33217189-T-C c.380A>G p.E127G Missense 5/16 - 1
10-33217190-C-T c.379G>A p.E127K Missense 5/16 - 1
10-33217191-C-A c.378G>T p.G126= Synonymous 5/16 - 1
10-33217191-C-G c.378G>C p.G126= Synonymous 5/16 - 1
10-33217191-C-T c.378G>A p.G126= Synonymous 5/16 - 1
10-33217383-T-A c.377-191A>T - IntronicSNV - 4/15 4
10-33217418-G-A c.377-226C>T - IntronicSNV - 4/15 1
10-33217418-G-C c.377-226C>G - IntronicSNV - 4/15 1
10-33218076-T-C c.376+674A>G - IntronicSNV - 4/15 3
10-33218747-T-C c.376+3A>G - IntronicSNV - 4/15 1
10-33218752-G-A c.374C>T p.S125L Missense 4/16 - 1
10-33218761-C-T c.365G>A p.R122Q Missense 4/16 - 3
10-33218762-G-A c.364C>T p.R122* Nonsense 4/16 - 1
10-33218769-C-T c.357G>A p.L119= Synonymous 4/16 - 1
10-33218771-A-G c.355T>C p.L119= Synonymous 4/16 - 1
10-33218781-GTTGGATCTGAGTAATATC-G c.328_345del p.D110_Q115del InFrameDeletion 4/16 - 1
10-33218784-GA-CC c.341_342delinsGG p.I114R Missense 4/16 - 1
10-33218785-A-C c.341T>G p.I114S Missense 4/16 - 1
10-33218788-T-C c.338A>G p.Q113R Missense 4/16 - 1
10-33218789-G-A c.337C>T p.Q113* Nonsense 4/16 - 1
10-33218789-G-C c.337C>G p.Q113E Missense 4/16 - 2
10-33218791-G-A c.335C>T p.T112I Missense 4/16 - 1
10-33218797-T-C c.329A>G p.D110G Missense 4/16 - 1
10-33218798-C-T c.328G>A p.D110N Missense 4/16 - 1
10-33218799-C-T c.327G>A p.E109= Synonymous 4/16 - 3
10-33218801-C-A c.325G>T p.E109* Nonsense 4/16 - 1
10-33218804-G-T c.322C>A p.P108T Missense 4/16 - 1
10-33218805-C-T c.321G>A p.K107= Synonymous 4/16 - 1
10-33218814-C-A c.312G>T p.E104D Missense 4/16 - 1
10-33218814-C-G c.312G>C p.E104D Missense 4/16 - 1
10-33218814-C-T c.312G>A p.E104= Synonymous 4/16 - 2
10-33218818-GC-TG c.307_308delinsCA p.A103Q Missense 4/16 - 1
10-33218818-GC-TT c.307_308delinsAA p.A103K Missense 4/16 - 1
10-33218818-G-T c.308C>A p.A103E Missense 4/16 - 2
10-33218819-C-G c.307G>C p.A103P Missense 4/16 - 1
10-33218819-C-T c.307G>A p.A103T Missense 4/16 - 1
10-33218821-G-A c.305C>T p.T102I Missense 4/16 - 1
10-33218821-G-T c.305C>A p.T102K Missense 4/16 - 1
10-33218828-T-A c.298A>T p.K100* Nonsense 4/16 - 1
10-33218828-T-C c.298A>G p.K100E Missense 4/16 - 1
10-33218830-C-T c.296G>A p.S99N Missense 4/16 - 1
10-33218833-C-A c.293G>T p.R98L Missense 4/16 - 1
10-33218834-G-A c.292C>T p.R98C Missense 4/16 - 3
10-33218836-T-C c.290A>G p.N97S Missense 4/16 - 1
10-33218837-T-C c.289A>G p.N97D Missense 4/16 - 1
10-33218838-G-A c.288C>T p.T96= Synonymous 4/16 - 1
10-33218839-G-A c.287C>T p.T96I Missense 4/16 - 1
10-33218841-T-A c.285A>T p.V95= Synonymous 4/16 - 2
10-33218841-T-C c.285A>G p.V95= Synonymous 4/16 - 3
10-33218841-T-G c.285A>C p.V95= Synonymous 4/16 - 2
10-33218850-A-C c.276T>G p.N92K Missense 4/16 - 1
10-33218850-A-G c.276T>C p.N92= Synonymous 4/16 - 1
10-33218850-A-T c.276T>A p.N92K Missense 4/16 - 1
10-33218856-C-A c.270G>T p.K90N Missense 4/16 - 3
10-33218856-C-G c.270G>C p.K90N Missense 4/16 - 3
10-33218859-TAT-AAA c.265_267delinsTTT p.I89F Missense 4/16 - 1
10-33218859-T-C c.267A>G p.I89M Missense 4/16 - 1
10-33218860-A-G c.266T>C p.I89T Missense 4/16 - 1
10-33218861-T-C c.265A>G p.I89V Missense 4/16 - 1
10-33218866-T-A c.260A>T p.K87I Missense 4/16 - 1
10-33218868-G-T c.258C>A p.S86= Synonymous 4/16 - 1
10-33218869-G-A c.257C>T p.S86F Missense 4/16 - 1
10-33218870-A-C c.256T>G p.S86A Missense 4/16 - 1
10-33218872-C-A c.254G>T p.G85V Missense 4/16 - 1
10-33218875-CT-GC c.250_251delinsGC p.R84A Missense 4/16 - 1
10-33218875-CT-TG c.250_251delinsCA p.R84Q Missense 4/16 - 1
10-33218878-G-T c.248C>A p.P83H Missense 4/16 - 1
10-33218880-GA-G c.246del p.R84Efs*6 Frameshift 4/16 - 1
10-33218888-T-C c.238A>G p.I80V Missense 4/16 - 1
10-33218891-C-G c.235G>C p.D79H Missense 4/16 - 1
10-33218893-T-G c.233A>C p.D78A Missense 4/16 - 1
10-33218894-C-A c.232G>T p.D78Y Missense 4/16 - 1
10-33218899-G-A c.227C>T p.P76L Missense 4/16 - 1
10-33218901-G-A c.225C>T p.C75= Synonymous 4/16 - 1
10-33218902-CA-TC c.223_224delinsGA p.C75D Missense 4/16 - 1
10-33218905-C-T c.221G>A p.G74D Missense 4/16 - 1
10-33218919-GG-CT c.206_207delinsAG p.A69E Missense 4/16 - 1
10-33218921-C-T c.205G>A p.A69T Missense 4/16 - 2
10-33218923-T-C c.203A>G p.E68G Missense 4/16 - 1
10-33218929-T-A c.197A>T p.D66V Missense 4/16 - 1
10-33218929-TC-AA c.196_197delinsTT p.D66F Missense 4/16 - 1
10-33218930-C-A c.196G>T p.D66Y Missense 4/16 - 2
10-33218930-C-G c.196G>C p.D66H Missense 4/16 - 1
10-33218930-C-T c.196G>A p.D66N Missense 4/16 - 1
10-33218932-TC-CA c.193_194delinsTG p.D65C Missense 4/16 - 1
10-33218935-C-T c.191G>A p.C64Y Missense 4/16 - 1
10-33218938-CG-GC c.187_188delinsGC p.R63A Missense 4/16 - 1
10-33218939-G-A c.187C>T p.R63* Nonsense 4/16 - 1
10-33218940-TGC-ACA c.184_186delinsTGT p.A62C Missense 4/16 - 1
10-33218942-C-T c.184G>A p.A62T Missense 4/16 - 1
10-33218942-C-CA c.183dup p.A62Cfs*4 Frameshift 4/16 - 1
10-33218945-A-C c.181T>G p.S61A Missense 4/16 - 1
10-33218948-T-A c.178A>T p.T60S Missense 4/16 - 1
10-33218948-T-C c.178A>G p.T60A Missense 4/16 - 2
10-33218951-G-C c.175C>G p.P59A Missense 4/16 - 1
10-33218956-C-T c.170G>A p.G57E Missense 4/16 - 1
10-33218960-C-A c.166G>T p.E56* Nonsense 4/16 - 2
10-33219008-T-C c.154-36A>G - IntronicSNV - 3/15 8
10-33219008-T-G c.154-36A>C - IntronicSNV - 3/15 8
10-33219109-A-T c.154-137T>A - IntronicSNV - 3/15 2
10-33221453-CA-TG c.142_143inv p.C48H Missense 3/16 - 1
10-33221455-C-T c.141G>A p.W47* Nonsense 3/16 - 2
10-33221456-C-T c.140G>A p.W47* Nonsense 3/16 - 1
10-33221458-CC-GT c.137_138delinsAC p.G46D Missense 3/16 - 1
10-33221458-C-T c.138G>A p.G46= Synonymous 3/16 - 1
10-33221461-A-G c.135T>C p.C45= Synonymous 3/16 - 2
10-33221462-C-A c.134G>T p.C45F Missense 3/16 - 1
10-33221462-CA-GC c.133_134delinsGC p.C45A Missense 3/16 - 1
10-33221463-A-G c.133T>C p.C45R Missense 3/16 - 1
10-33221468-G-A c.128C>T p.P43L Missense 3/16 - 1
10-33221471-C-A c.125G>T p.G42V Missense 3/16 - 1
10-33221471-C-T c.125G>A p.G42E Missense 3/16 - 1
10-33221472-C-G c.124G>C p.G42R Missense 3/16 - 1
10-33221472-C-T c.124G>A p.G42R Missense 3/16 - 1
10-33221474-G-T c.122C>A p.A41E Missense 3/16 - 1
10-33221481-T-C c.115A>G p.I39V Missense 3/16 - 11
10-33221487-C-T c.109G>A p.E37K Missense 3/16 - 1
10-33221490-C-G c.106G>C p.G36R Missense 3/16 - 1
10-33221490-C-T c.106G>A p.G36R Missense 3/16 - 1
10-33221494-TGA-GTT c.100_102delinsAAC p.S34N Missense 3/16 - 1
10-33221498-T-G c.98A>C p.K33T Missense 3/16 - 1
10-33221501-GC-AT c.94_95delinsAT p.A32I Missense 3/16 - 1
10-33221501-GC-TT c.94_95delinsAA p.A32N Missense 3/16 - 1
10-33221506-T-A c.90A>T p.A30= Synonymous 3/16 - 1
10-33221506-T-C c.90A>G p.A30= Synonymous 3/16 - 1
10-33221506-T-G c.90A>C p.A30= Synonymous 3/16 - 1
10-33221506-TGC-AAA c.88_90delinsTTT p.A30F Missense 3/16 - 1
10-33221507-G-T c.89C>A p.A30E Missense 3/16 - 1
10-33221508-C-G c.88G>C p.A30P Missense 3/16 - 1
10-33221512-T-A c.84A>T p.L28F Missense 3/16 - 2
10-33221512-T-G c.84A>C p.L28F Missense 3/16 - 2
10-33221512-T-C c.84A>G p.L28= Synonymous 3/16 - 1
10-33221514-A-G c.82T>C p.L28= Synonymous 3/16 - 1
10-33221518-T-C c.78A>G p.R26= Synonymous 3/16 - 49
10-33221518-TCT-ATA c.76_78delinsTAT p.R26Y Missense 3/16 - 5
10-33221520-T-G c.76A>C p.R26= Synonymous 3/16 - 49
10-33221519-CT-GG c.76_77delinsCC p.R26P Missense 3/16 - 1
10-33221521-A-C c.75T>G p.N25K Missense 3/16 - 1
10-33221701-T-C c.68-173A>G - IntronicSNV - 2/15 2
10-33221722-G-A c.68-194C>T - IntronicSNV - 2/15 1
10-33223764-C-G c.67+656G>C - IntronicSNV - 2/15 1
10-33223764-C-T c.67+656G>A - IntronicSNV - 2/15 1
10-33224415-T-C c.67+5A>G - IntronicSNV - 2/15 2
10-33224423-T-C c.64A>G p.T22A Missense 2/16 - 1
10-33224428-GC-AT c.58_59delinsAT p.A20I Missense 2/16 - 1
10-33224428-GC-CA c.58_59delinsTG p.A20C Missense 2/16 - 2
10-33224428-G-T c.59C>A p.A20D Missense 2/16 - 2
10-33224430-A-C c.57T>G p.F19L Missense 2/16 - 1
10-33224430-A-T c.57T>A p.F19L Missense 2/16 - 1
10-33224432-A-G c.55T>C p.F19L Missense 2/16 - 1
10-33224437-CA-GC c.49_50delinsGC p.C17A Missense 2/16 - 1
10-33224437-C-T c.50G>A p.C17Y Missense 2/16 - 2
10-33224440-CA-TG c.46_47inv p.C16H Missense 2/16 - 1
10-33224444-C-A c.43G>T p.V15F Missense 2/16 - 1
10-33224445-TG-AA c.41_42delinsTT p.S14F Missense 2/16 - 1
10-33224445-TGA-ATG c.40_42delinsCAT p.S14H Missense 2/16 - 1
10-33224445-TG-AC c.41_42delinsGT p.S14C Missense 2/16 - 5
10-33224445-TGA-GTC c.40_42delinsGAC p.S14D Missense 2/16 - 5
10-33224446-G-A c.41C>T p.S14L Missense 2/16 - 1
10-33224446-GA-AT c.40_41delinsAT p.S14I Missense 2/16 - 1
10-33224446-GA-CC c.40_41delinsGG p.S14G Missense 2/16 - 1
10-33224446-GA-CT c.40_41delinsAG p.S14R Missense 2/16 - 1
10-33224446-GA-TC c.40_41inv p.S14E Missense 2/16 - 2
10-33224447-A-C c.40T>G p.S14A Missense 2/16 - 15
10-33224447-A-T c.40T>A p.S14T Missense 2/16 - 1
10-33224448-ACT-CTC c.37_39delinsGAG p.S13E Missense 2/16 - 3
10-33224448-A-T c.39T>A p.S13R Missense 2/16 - 1
10-33224449-CT-AA c.37_38delinsTT p.S13F Missense 2/16 - 1
10-33224449-CT-GC c.37_38delinsGC p.S13A Missense 2/16 - 11
10-33224449-CT-TC c.37_38delinsGA p.S13D Missense 2/16 - 2
10-33224449-CT-TG c.37_38delinsCA p.S13H Missense 2/16 - 1
10-33224450-T-A c.37A>T p.S13C Missense 2/16 - 5
10-33224450-T-C c.37A>G p.S13G Missense 2/16 - 2
10-33224453-T-G c.34A>C p.I12L Missense 2/16 - 1
10-33224454-C-A c.33G>T p.L11= Synonymous 2/16 - 1
10-33224454-C-G c.33G>C p.L11= Synonymous 2/16 - 1
10-33224454-C-T c.33G>A p.L11= Synonymous 2/16 - 1
10-33224456-G-A c.31C>T p.L11= Synonymous 2/16 - 1
10-33224465-A-C c.22T>G p.W8G Missense 2/16 - 1
10-33224470-A-C c.17T>G p.I6S Missense 2/16 - 2
10-33224471-T-A c.16A>T p.I6F Missense 2/16 - 1
10-33224471-T-C c.16A>G p.I6V Missense 2/16 - 6
10-33224472-T-A c.15A>T p.P5= Synonymous 2/16 - 1
10-33224474-G-A c.13C>T p.P5S Missense 2/16 - 1
10-33224484-C-G c.3G>C p.M1? Missense 2/16 - 2
10-33224579-C-T c.1-93G>A - IntronicSNV - 1/15 1
10-33224656-T-G c.1-170A>C - IntronicSNV - 1/15 4
10-33224887-A-G c.1-401T>C - IntronicSNV - 1/15 1
10-33227380-T-C c.1-2894A>G - IntronicSNV - 1/15 2
10-33227437-G-A c.1-2951C>T - IntronicSNV - 1/15 1
10-33227477-T-C c.1-2991A>G - IntronicSNV - 1/15 1
10-33232628-T-C c.1-8142A>G - IntronicSNV - 1/15 1
10-33233453-C-T c.1-8967G>A - IntronicSNV - 1/15 1
10-33236305-T-A c.-1+10768A>T - intron_variant - 1/15 1
10-33236305-T-C c.-1+10768A>G - intron_variant - 1/15 1
10-33236901-A-G c.-1+10172T>C - intron_variant - 1/15 1
10-33241138-A-C c.-1+5935T>G - intron_variant - 1/15 2
10-33241577-C-T c.-1+5496G>A - intron_variant - 1/15 1
10-33242401-G-A c.-1+4672C>T - intron_variant - 1/15 3
10-33243807-G-C c.-1+3266C>G - intron_variant - 1/15 1
10-33246796-A-G c.-1+277T>C - intron_variant - 1/15 1
10-33246796-A-T c.-1+277T>A - intron_variant - 1/15 1