BRAF B-Raf proto-oncogene, serine/threonine kinase

Annotation transcript: NM_004333.6

1653 unique variant annotations were identified in 2921 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
7-140432893-T-C c.*1504A>G - IntergenicSNV 18/18 - 1
7-140434010-C-T c.*387G>A - 3-UTRSNV 18/18 - 1
7-140434181-A-G c.*216T>C - 3-UTRSNV 18/18 - 1
7-140434182-T-A c.*215A>T - 3-UTRSNV 18/18 - 1
7-140434340-T-A c.*57A>T - 3-UTRSNV 18/18 - 1
7-140434371-C-A c.*26G>T - 3-UTRSNV 18/18 - 1
7-140434371-C-T c.*26G>A - 3-UTRSNV 18/18 - 1
7-140434405-C-G c.2293G>C p.V765L Missense 18/18 - 1
7-140434408-G-A c.2290C>T p.P764S Missense 18/18 - 1
7-140434412-C-A c.2286G>T p.A762= Synonymous 18/18 - 1
7-140434412-C-G c.2286G>C p.A762= Synonymous 18/18 - 1
7-140434412-C-T c.2286G>A p.A762= Synonymous 18/18 - 1
7-140434413-G-A c.2285C>T p.A762V Missense 18/18 - 4
7-140434413-G-T c.2285C>A p.A762E Missense 18/18 - 1
7-140434414-C-T c.2284G>A p.A762T Missense 18/18 - 1
7-140434420-ATCCCCCTGCCTGGATGGGTGTTTT-A c.2254_2277del p.K752_G759del InFrameDeletion 18/18 - 1
7-140434422-C-A c.2276G>T p.G759V Missense 18/18 - 1
7-140434423-C-T c.2275G>A p.G759R Missense 18/18 - 1
7-140434434-A-G c.2264T>C p.I755T Missense 18/18 - 1
7-140434443-T-C c.2255A>G p.K752R Missense 18/18 - 1
7-140434447-G-C c.2251C>G p.P751A Missense 18/18 - 1
7-140434447-G-T c.2251C>A p.P751T Missense 18/18 - 1
7-140434448-GA-G c.2250del p.P751Qfs*21 Frameshift 18/18 - 1
7-140434449-AGAAGCACAAGCATAT-A c.2235_2249del p.Y746_S750del InFrameDeletion 18/18 - 1
7-140434449-G-C c.2249C>G p.S750C Missense 18/18 - 1
7-140434452-G-T c.2246C>A p.A749D Missense 18/18 - 1
7-140434453-C-T c.2245G>A p.A749T Missense 18/18 - 2
7-140434458-G-A c.2240C>T p.A747V Missense 18/18 - 1
7-140434459-C-A c.2239G>T p.A747S Missense 18/18 - 1
7-140434462-A-C c.2236T>G p.Y746D Missense 18/18 - 1
7-140434463-T-C c.2235A>G p.L745= Synonymous 18/18 - 1
7-140434465-G-C c.2233C>G p.L745V Missense 18/18 - 1
7-140434477-C-G c.2221G>C p.E741Q Missense 18/18 - 1
7-140434480-T-C c.2218A>G p.T740A Missense 18/18 - 1
7-140434488-C-G c.2210G>C p.G737A Missense 18/18 - 1
7-140434490-AG-CT c.2207_2208inv p.A736E Missense 18/18 - 1
7-140434491-G-C c.2207C>G p.A736G Missense 18/18 - 1
7-140434492-C-T c.2206G>A p.A736T Missense 18/18 - 1
7-140434494-C-T c.2204G>A p.R735Q Missense 18/18 - 2
7-140434499-C-A c.2199G>T p.L733F Missense 18/18 - 1
7-140434499-C-G c.2199G>C p.L733F Missense 18/18 - 1
7-140434500-CAAG-C c.2196_2198del p.L733del InFrameDeletion 18/18 - 1
7-140434503-G-A c.2195C>T p.S732F Missense 18/18 - 1
7-140434507-G-A c.2191C>T p.P731S Missense 18/18 - 4
7-140434510-C-T c.2188G>A p.E730K Missense 18/18 - 2
7-140434511-TGA-GTC c.2185_2187delinsGAC p.S729D Missense 18/18 - 1
7-140434512-G-A c.2186C>T p.S729L Missense 18/18 - 1
7-140434513-A-C c.2185T>G p.S729A Missense 18/18 - 10
7-140434515-G-A c.2183C>T p.A728V Missense 18/18 - 3
7-140434519-T-C c.2179A>G p.S727G Missense 18/18 - 1
7-140434521-C-T c.2177G>A p.R726H Missense 18/18 - 3
7-140434521-C-A c.2177G>T p.R726L Missense 18/18 - 2
7-140434525-G-T c.2173C>A p.H725N Missense 18/18 - 1
7-140434525-G-A c.2173C>T p.H725Y Missense 18/18 - 2
7-140434530-TT-CC c.2167_2168delinsGG p.K723G Missense 18/18 - 7
7-140434534-G-A c.2164C>T p.P722S Missense 18/18 - 7
7-140434539-GA-TC c.2158_2159inv p.S720E Missense 18/18 - 6
7-140434542-C-G c.2156G>C p.R719P Missense 18/18 - 2
7-140434542-C-T c.2156G>A p.R719H Missense 18/18 - 2
7-140434542-C-A c.2156G>T p.R719L Missense 18/18 - 1
7-140434543-G-A c.2155C>T p.R719C Missense 18/18 - 2
7-140434546-C-A c.2152G>T p.A718S Missense 18/18 - 1
7-140434551-AG-TC c.2146_2147delinsGA p.L716E Missense 18/18 - 7
7-140434558-T-C c.2140A>G p.I714V Missense 18/18 - 2
7-140434559-AGA-CTC c.2137_2139delinsGAG p.S713E Missense 18/18 - 7
7-140434563-G-T c.2135C>A p.A712D Missense 18/18 - 1
7-140434564-C-T c.2134G>A p.A712T Missense 18/18 - 4
7-140434566-A-G c.2132T>C p.L711P Missense 18/18 - 1
7-140434567-G-GA c.2130dup p.L711Sfs*5 SpliceAcceptorInsertion 18/18 - 1
7-140434572-T-TA c.2128-3dup - IntronicInsertion - 17/17 1
7-140434586-G-T c.2128-16C>A - IntronicSNV - 17/17 1
7-140434586-G-A c.2128-16C>T - IntronicSNV - 17/17 1
7-140439613-T-C c.2126A>G p.Q709R Missense 17/18 - 12
7-140439614-G-T c.2125C>A p.Q709K Missense 17/18 - 1
7-140439617-G-A c.2122C>T p.P708S Missense 17/18 - 2
7-140439620-A-T c.2119T>A p.F707I Missense 17/18 - 1
7-140439622-AG-CT c.2116_2117inv p.L706S Missense 17/18 - 6
7-140439625-G-A c.2114C>T p.P705L Missense 17/18 - 1
7-140439627-T-C c.2112A>G p.R704= Synonymous 17/18 - 1
7-140439628-CT-TG c.2110_2111delinsCA p.R704Q Missense 17/18 - 1
7-140439630-C-G c.2109G>C p.E703D Missense 17/18 - 1
7-140439630-C-A c.2109G>T p.E703D Missense 17/18 - 1
7-140439633-A-G c.2106T>C p.D702= Synonymous 17/18 - 1
7-140439637-C-G c.2102G>C p.R701T Missense 17/18 - 1
7-140439640-T-C c.2099A>G p.K700R Missense 17/18 - 1
7-140439641-T-C c.2098A>G p.K700E Missense 17/18 - 1
7-140439643-T-C c.2096A>G p.K699R Missense 17/18 - 1
7-140439646-T-C c.2093A>G p.K698R Missense 17/18 - 2
7-140439656-C-G c.2083G>C p.E695Q Missense 17/18 - 4
7-140439656-C-T c.2083G>A p.E695K Missense 17/18 - 2
7-140439659-C-T c.2080G>A p.A694T Missense 17/18 - 1
7-140439662-T-C c.2077A>G p.M693V Missense 17/18 - 1
7-140439664-A-G c.2075T>C p.L692S Missense 17/18 - 3
7-140439669-C-A c.2070G>T p.K690N Missense 17/18 - 1
7-140439667-CTCT-C c.2069_2071del p.K690del InFrameDeletion 17/18 - 1
7-140439672-C-A c.2067G>T p.M689I Missense 17/18 - 1
7-140439672-C-T c.2067G>A p.M689I Missense 17/18 - 1
7-140439674-T-C c.2065A>G p.M689V Missense 17/18 - 2
7-140439676-GC-CG c.2062_2063delinsCG p.A688R Missense 17/18 - 7
7-140439678-TTT-GTC c.2059_2061delinsGAC p.K687D Missense 17/18 - 1
7-140439680-T-C c.2059A>G p.K687E Missense 17/18 - 2
7-140439682-G-T c.2057C>A p.P686Q Missense 17/18 - 1
7-140439683-G-T c.2056C>A p.P686T Missense 17/18 - 2
7-140439685-C-A c.2054G>T p.C685F Missense 17/18 - 1
7-140439686-A-T c.2053T>A p.C685S Missense 17/18 - 1
7-140439685-C-G c.2054G>C p.C685S Missense 17/18 - 1
7-140439691-CT-GG c.2047_2048delinsCC p.S683P Missense 17/18 - 1
7-140439695-G-A c.2044C>T p.R682W Missense 17/18 - 1
7-140439698-C-T c.2041G>A p.V681I Missense 17/18 - 1
7-140439699-C-G c.2040G>C p.K680N Missense 17/18 - 1
7-140439699-C-A c.2040G>T p.K680N Missense 17/18 - 1
7-140439700-T-C c.2039A>G p.K680R Missense 17/18 - 1
7-140439707-AG-A c.2032del p.L678Sfs*12 Frameshift 17/18 - 1
7-140439713-G-C c.2026C>G p.P676A Missense 17/18 - 1
7-140439714-AGA-CTC c.2023_2025delinsGAG p.S675E Missense 17/18 - 1
7-140439715-G-GTAT c.2023_2024insATA p.S675delinsYT MultiAAMissense 17/18 - 1
7-140439716-A-C c.2023T>G p.S675A Missense 17/18 - 2
7-140439721-T-G c.2018A>C p.Y673S Missense 17/18 - 7
7-140439722-A-C c.2017T>G p.Y673D Missense 17/18 - 1
7-140439724-C-A c.2015G>T p.G672V Missense 17/18 - 1
7-140439727-C-T c.2012G>A p.R671Q Missense 17/18 - 13
7-140439727-CG-TT c.2011_2012delinsAA p.R671K Missense 17/18 - 1
7-140439728-G-A c.2011C>T p.R671* Nonsense 17/18 - 2
7-140439733-A-G c.2006T>C p.V669A Missense 17/18 - 1
7-140439738-AAA-CTC c.1999_2001delinsGAG p.F667E Missense 17/18 - 8
7-140439739-AA-GC c.1999_2000delinsGC p.F667A Missense 17/18 - 1
7-140439741-AA-CC c.1997_1998delinsGG p.I666R Missense 17/18 - 1
7-140439741-A-G c.1998T>C p.I666= Synonymous 17/18 - 2
7-140439741-A-T c.1998T>A p.I666= Synonymous 17/18 - 1
7-140449071-C-G c.1992+16G>C - IntronicSNV - 16/17 3
7-140449071-C-T c.1992+16G>A - IntronicSNV - 16/17 3
7-140449091-T-G c.1988A>C p.D663A Missense 16/18 - 1
7-140449092-C-A c.1987G>T p.D663Y Missense 16/18 - 1
7-140449093-CCT-ATG c.1984_1986delinsCAT p.R662H Missense 16/18 - 1
7-140449094-CT-GC c.1984_1985delinsGC p.R662A Missense 16/18 - 1
7-140449094-CT-AG c.1984_1985inv p.R662L Missense 16/18 - 1
7-140449097-TT-GC c.1981_1982delinsGC p.N661A Missense 16/18 - 1
7-140449099-G-C c.1980C>G p.N660K Missense 16/18 - 1
7-140449099-G-T c.1980C>A p.N660K Missense 16/18 - 1
7-140449102-G-C c.1977C>G p.I659M Missense 16/18 - 1
7-140449103-A-C c.1976T>G p.I659S Missense 16/18 - 1
7-140449113-A-C c.1966T>G p.Y656D Missense 16/18 - 1
7-140449116-G-C c.1963C>G p.P655A Missense 16/18 - 1
7-140449120-C-T c.1959G>A p.Q653= Synonymous 16/18 - 1
7-140449129-C-T c.1950G>A p.M650I Missense 16/18 - 1
7-140449132-CAA-GAT c.1945_1947delinsATC p.L649I Missense 16/18 - 1
7-140449136-T-C c.1943A>G p.E648G Missense 16/18 - 1
7-140449140-A-C c.1939T>G p.Y647D Missense 16/18 - 1
7-140449146-C-T c.1933G>A p.V645I Missense 16/18 - 1
7-140449150-T-C c.1929A>G p.G643= Synonymous 16/18 - 9
7-140449150-T-A c.1929A>T p.G643= Synonymous 16/18 - 1
7-140449150-T-G c.1929A>C p.G643= Synonymous 16/18 - 1
7-140449152-C-T c.1927G>A p.G643R Missense 16/18 - 1
7-140449164-C-T c.1915G>A p.V639I Missense 16/18 - 3
7-140449165-A-C c.1914T>G p.D638E Missense 16/18 - 13
7-140449165-A-T c.1914T>A p.D638E Missense 16/18 - 10
7-140449170-A-C c.1909T>G p.S637A Missense 16/18 - 1
7-140449173-G-C c.1906C>G p.Q636E Missense 16/18 - 1
7-140449173-G-A c.1906C>T p.Q636* Nonsense 16/18 - 1
7-140449176-A-T c.1903T>A p.F635I Missense 16/18 - 2
7-140449181-T-C c.1898A>G p.Y633C Missense 16/18 - 4
7-140449182-A-G c.1897T>C p.Y633H Missense 16/18 - 1
7-140449185-G-A c.1894C>T p.P632S Missense 16/18 - 4
7-140449187-TT-AA c.1891_1892inv p.N631F Missense 16/18 - 3
7-140449189-TT-GC c.1889_1890delinsGC p.K630S Missense 16/18 - 7
7-140449209-C-A c.1870G>T p.V624F Missense 16/18 - 2
7-140449209-C-T c.1870G>A p.V624I Missense 16/18 - 1
7-140449212-C-T c.1867G>A p.E623K Missense 16/18 - 3
7-140449215-G-C c.1864C>G p.P622A Missense 16/18 - 1
7-140452363-C-A c.1860+712G>T - IntronicSNV - 15/17 1
7-140452363-C-G c.1860+712G>C - IntronicSNV - 15/17 1
7-140453074-C-CT c.1860_1860+1insA p.A621Sfs*10 SpliceDonorInsertion - - 1
7-140453074-C-A c.1860+1G>T - IntronicSNV - 15/17 1
7-140453075-C-G c.1860G>C p.M620I Missense 15/18 - 1
7-140453075-C-T c.1860G>A p.M620I Missense 15/18 - 1
7-140453075-C-A c.1860G>T p.M620I Missense 15/18 - 1
7-140453076-A-T c.1859T>A p.M620K Missense 15/18 - 1
7-140453078-C-G c.1857G>C p.W619C Missense 15/18 - 1
7-140453078-C-A c.1857G>T p.W619C Missense 15/18 - 1
7-140453081-C-A c.1854G>T p.L618F Missense 15/18 - 1
7-140453083-A-C c.1852T>G p.L618V Missense 15/18 - 2
7-140453084-AA-CC c.1850_1851delinsGG p.I617R Missense 15/18 - 2
7-140453086-T-C c.1849A>G p.I617V Missense 15/18 - 1
7-140453086-T-A c.1849A>T p.I617F Missense 15/18 - 2
7-140453087-G-A c.1848C>T p.S616= Synonymous 15/18 - 1
7-140453087-G-C c.1848C>G p.S616= Synonymous 15/18 - 1
7-140453087-G-T c.1848C>A p.S616= Synonymous 15/18 - 1
7-140453087-GGA-CTC c.1846_1848delinsGAG p.S616E Missense 15/18 - 1
7-140453088-G-A c.1847C>T p.S616F Missense 15/18 - 7
7-140453088-GA-TC c.1846_1847inv p.S616D Missense 15/18 - 2
7-140453089-A-C c.1846T>G p.S616A Missense 15/18 - 1
7-140453091-C-T c.1844G>A p.G615E Missense 15/18 - 2
7-140453092-C-T c.1843G>A p.G615R Missense 15/18 - 2
7-140453093-A-C c.1842T>G p.S614= Synonymous 15/18 - 1
7-140453093-A-G c.1842T>C p.S614= Synonymous 15/18 - 1
7-140453093-A-T c.1842T>A p.S614= Synonymous 15/18 - 1
7-140453094-GA-AT c.1840_1841delinsAT p.S614I Missense 15/18 - 1
7-140453094-GA-CG c.1840_1841delinsCG p.S614R Missense 15/18 - 1
7-140453095-A-G c.1840T>C p.S614P Missense 15/18 - 2
7-140453096-C-A c.1839G>T p.L613F Missense 15/18 - 3
7-140453096-C-G c.1839G>C p.L613F Missense 15/18 - 2
7-140453098-A-C c.1837T>G p.L613V Missense 15/18 - 7
7-140453101-G-A c.1834C>T p.Q612* Nonsense 15/18 - 2
7-140453101-G-C c.1834C>G p.Q612E Missense 15/18 - 1
7-140453102-T-C c.1833A>G p.E611= Synonymous 15/18 - 1
7-140453104-C-T c.1831G>A p.E611K Missense 15/18 - 2
7-140453104-C-G c.1831G>C p.E611Q Missense 15/18 - 1
7-140453108-C-CA c.1826_1827insT p.Q609Hfs*3 Frameshift 15/18 - 1
7-140453109-T-A c.1826A>T p.Q609L Missense 15/18 - 3
7-140453110-G-A c.1825C>T p.Q609* Nonsense 15/18 - 1
7-140453112-T-C c.1823A>G p.H608R Missense 15/18 - 2
7-140453112-T-A c.1823A>T p.H608L Missense 15/18 - 1
7-140453112-TG-CC c.1822_1823delinsGG p.H608G Missense 15/18 - 1
7-140453113-G-A c.1822C>T p.H608Y Missense 15/18 - 3
7-140453115-G-A c.1820C>T p.S607F Missense 15/18 - 6
7-140453112-TG-T c.1822del p.H608Ifs*42 Frameshift 15/18 - 1
7-140453116-A-G c.1819T>C p.S607P Missense 15/18 - 3
7-140453116-A-T c.1819T>A p.S607T Missense 15/18 - 1
7-140453118-C-T c.1817G>A p.G606E Missense 15/18 - 5
7-140453119-C-T c.1816G>A p.G606R Missense 15/18 - 8
7-140453119-C-G c.1816G>C p.G606R Missense 15/18 - 5
7-140453118-CCACTCCATCGAGATTTCA-C c.1799_1816del p.V600_S605del InFrameDeletion 15/18 - 1
7-140453120-ACTCCATCGAGATTTCA-CTTTT c.1799_1815delinsAAAAG p.V600_S605delinsEK MultiAAMissense 15/18 - 1
7-140453120-ACT-CTTCTC c.1813_1815delinsGAGAAG p.S605delinsEK MultiAAMissense 15/18 - 1
7-140453120-A-G c.1815T>C p.S605= Synonymous 15/18 - 1
7-140453121-C-T c.1814G>A p.S605N Missense 15/18 - 6
7-140453121-CT-AA c.1813_1814delinsTT p.S605F Missense 15/18 - 2
7-140453121-C-A c.1814G>T p.S605I Missense 15/18 - 2
7-140453121-CTCCATCGAGATTTCA-T c.1799_1814delinsA p.V600_S605delinsD MultiAAMissense 15/18 - 1
7-140453122-T-C c.1813A>G p.S605G Missense 15/18 - 3
7-140453122-T-A c.1813A>T p.S605C Missense 15/18 - 1
7-140453123-TCCATCGAGATTTCAC-T c.1798_1812del p.V600_W604del InFrameDeletion 15/18 - 2
7-140453123-C-A c.1812G>T p.W604C Missense 15/18 - 2
7-140453123-C-G c.1812G>C p.W604C Missense 15/18 - 2
7-140453123-TCCA-T c.1810_1812del p.W604del InFrameDeletion 15/18 - 1
7-140453124-C-A c.1811G>T p.W604L Missense 15/18 - 4
7-140453121-CTCCATCGAGATT-C c.1802_1813del p.K601_W604del InFrameDeletion 15/18 - 3
7-140453124-C-T c.1811G>A p.W604* Nonsense 15/18 - 3
7-140453125-A-C c.1810T>G p.W604G Missense 15/18 - 2
7-140453123-CCAT-C c.1809_1811del p.W604del InFrameDeletion 15/18 - 1
7-140453127-C-T c.1808G>A p.R603Q Missense 15/18 - 9
7-140453127-C-A c.1808G>T p.R603L Missense 15/18 - 2
7-140453125-ATCGAGATTTCAC-A c.1798_1809del p.V600_R603del InFrameDeletion 15/18 - 1
7-140453128-G-A c.1807C>T p.R603* Nonsense 15/18 - 11
7-140453126-T-G c.1809A>C p.R603= Synonymous 15/18 - 1
7-140453126-T-A c.1809A>T p.R603= Synonymous 15/18 - 1
7-140453126-T-C c.1809A>G p.R603= Synonymous 15/18 - 1
7-140453128-G-T c.1807C>A p.R603= Synonymous 15/18 - 1
7-140453129-AGA-TGTGTT c.1804_1806delinsAACACA p.S602delinsNT MultiAAMissense 15/18 - 1
7-140453129-AGA-TGTGTC c.1804_1806delinsGACACA p.S602delinsDT MultiAAMissense 15/18 - 1
7-140453129-A-C c.1806T>G p.S602= Synonymous 15/18 - 1
7-140453129-A-G c.1806T>C p.S602= Synonymous 15/18 - 1
7-140453129-A-T c.1806T>A p.S602= Synonymous 15/18 - 1
7-140453130-G-C c.1805C>G p.S602C Missense 15/18 - 1
7-140453130-G-A c.1805C>T p.S602F Missense 15/18 - 4
7-140453130-G-T c.1805C>A p.S602Y Missense 15/18 - 3
7-140453130-GA-TC c.1804_1805inv p.S602D Missense 15/18 - 1
7-140453131-A-T c.1804T>A p.S602T Missense 15/18 - 2
7-140453131-A-G c.1804T>C p.S602P Missense 15/18 - 2
7-140453131-A-C c.1804T>G p.S602A Missense 15/18 - 2
7-140453132-T-G c.1803A>C p.K601N Missense 15/18 - 78
7-140453132-T-A c.1803A>T p.K601N Missense 15/18 - 87
7-140453132-ATTT-A c.1801_1803del p.K601del InFrameDeletion 15/18 - 17
7-140453132-T-C c.1803A>G p.K601= Synonymous 15/18 - 8
7-140453132-TTTCA-GAGAT c.1799_1803delinsATCTC p.V600_K601delinsDL MultiAAMissense 15/18 - 1
7-140453132-TTT-GATCTC c.1801_1803delinsGAGATC p.K601delinsEI MultiAAMissense 15/18 - 1
7-140453132-TTTCA-AT c.1799_1803delinsAT p.V600_K601delinsD MultiAAMissense 15/18 - 1
7-140453133-T-A c.1802A>T p.K601I Missense 15/18 - 14
7-140453133-T-C c.1802A>G p.K601R Missense 15/18 - 9
7-140453133-T-G c.1802A>C p.K601T Missense 15/18 - 11
7-140453133-TT-AG c.1801_1802delinsCT p.K601L Missense 15/18 - 6
7-140453131-ATTTCAC-A c.1798_1803del p.V600_K601del InFrameDeletion 15/18 - 1
7-140453134-T-C c.1801A>G p.K601E Missense 15/18 - 490
7-140453134-T-G c.1801A>C p.K601Q Missense 15/18 - 20
7-140453134-TTCA-T c.1799_1801del p.V600_K601delinsE MultiAAMissense 15/18 - 27
7-140453134-TCA-AGG c.1799_1801delinsCCT p.V600_K601delinsA* MultiAAMissense 15/18 - 1
7-140453135-CA-GT c.1799_1800delinsAC p.V600D Missense 15/18 - 369
7-140453135-C-T c.1800G>A p.V600= Synonymous 15/18 - 17
7-140453135-C-G c.1800G>C p.V600= Synonymous 15/18 - 13
7-140453135-C-A c.1800G>T p.V600= Synonymous 15/18 - 14
7-140453135-CAC-AAA c.1798_1800delinsTTT p.V600F Missense 15/18 - 16
7-140453135-CAC-GAT c.1798_1800delinsATC p.V600I Missense 15/18 - 2
7-140453135-CAC-ATG c.1798_1800delinsCAT p.V600H Missense 15/18 - 2
7-140453136-AC-TCCCT c.1798_1799delinsAGGGA p.V600delinsRE MultiAAMissense 15/18 - 2
7-140453135-CA-TT c.1799_1800delinsAA p.V600E Missense 15/18 - 1
7-140453135-CA-AT c.1799_1800delinsAT p.V600D Missense 15/18 - 166
7-140453135-CA-AAGTG c.1799_1800delinsCACTT p.V600delinsAL MultiAAMissense 15/18 - 2
7-140453135-CACTGT-AGGGAG c.1795_1800delinsCTCCCT p.T599_V600delinsLP MultiAAMissense 15/18 - 1
7-140453136-AC-TT c.1798_1799delinsAA p.V600K Missense 15/18 - 1335
7-140453136-A-T c.1799T>A p.V600E Missense 15/18 - 16368
7-140453136-AC-CT c.1798_1799delinsAG p.V600R Missense 15/18 - 392
7-140453136-A-C c.1799T>G p.V600G Missense 15/18 - 87
7-140453136-AC-TG c.1798_1799delinsCA p.V600Q Missense 15/18 - 13
7-140453136-A-G c.1799T>C p.V600A Missense 15/18 - 51
7-140453136-AC-TA c.1798_1799delinsTA p.V600* Nonsense 15/18 - 17
7-140453134-TCA-T c.1799_1800del p.V600Efs*11 Frameshift 15/18 - 2
7-140453136-AC-GA c.1798_1799delinsTC p.V600S Missense 15/18 - 1
7-140453136-AC-CA c.1798_1799delinsTG p.V600W Missense 15/18 - 1
7-140453136-AC-GT c.1798_1799inv p.V600T Missense 15/18 - 2
7-140453136-CA-C c.1799del p.V600Gfs*50 Frameshift 15/18 - 1
7-140453137-C-T c.1798G>A p.V600M Missense 15/18 - 156
7-140453137-C-G c.1798G>C p.V600L Missense 15/18 - 26
7-140453137-C-A c.1798G>T p.V600L Missense 15/18 - 26
7-140453138-CTGT-C c.1795_1797del p.T599del InFrameDeletion 15/18 - 7
7-140453138-T-C c.1797A>G p.T599= Synonymous 15/18 - 5
7-140453138-T-A c.1797A>T p.T599= Synonymous 15/18 - 5
7-140453138-T-G c.1797A>C p.T599= Synonymous 15/18 - 5
7-140453138-TGT-GTC c.1795_1797delinsGAC p.T599D Missense 15/18 - 1
7-140453138-TG-AGGGA c.1796_1797delinsTCCCT p.T599delinsIP MultiAAMissense 15/18 - 2
7-140453138-TG-CA c.1796_1797inv p.T599M Missense 15/18 - 1
7-140453139-G-A c.1796C>T p.T599I Missense 15/18 - 61
7-140453139-G-C c.1796C>G p.T599R Missense 15/18 - 24
7-140453139-GT-AC c.1795_1796inv p.T599V Missense 15/18 - 1
7-140453139-G-T c.1796C>A p.T599K Missense 15/18 - 3
7-140453139-GT-TC c.1795_1796delinsGA p.T599E Missense 15/18 - 6
7-140453139-G-GTTA c.1795_1796insTAA p.A598_T599insI InFrameInsertion 15/18 - 2
7-140453139-G-GTTGCAAGACCAAAGTCACCGATCTTCT c.1795_1796insAGAAGATCGGTGACTTTGGTCTTGCAA p.A598_T599insKKIGDFGLA InFrameInsertion 15/18 - 1
7-140453136-A-ACTGTTGTCT c.1798_1799insAGACAACAG p.T599_V600insETT InFrameInsertion 15/18 - 1
7-140453136-A-ACTGTTGCAAGACCAAAGT c.1798_1799insACTTTGGTCTTGCAACAG p.D594_T599dup InFrameInsertion 15/18 - 2
7-140453140-T-TTAC c.1794_1795insGTA p.A598_T599insV InFrameInsertion 15/18 - 2
7-140453140-T-C c.1795A>G p.T599A Missense 15/18 - 11
7-140453138-TGTA-T c.1794_1796del p.T599del InFrameDeletion 15/18 - 2
7-140453137-C-CTGTTGT c.1797_1798insACAACA p.T599_V600insTT InFrameInsertion 15/18 - 4
7-140453139-G-GTTGCAAGACCAAAGTTACCCTTCT c.1795_1796insAGAAGGGTAACTTTGGTCTTGCAA p.A598_T599insKKGNFGLA InFrameInsertion 15/18 - 1
7-140453140-T-A c.1795A>T p.T599S Missense 15/18 - 1
7-140453138-T-TGTA c.1794_1796dup p.T599dup InFrameInsertion 15/18 - 1
7-140453140-T-TAAC c.1794_1795insGTT p.A598_T599insV InFrameInsertion 15/18 - 10
7-140453141-TAGC-T c.1792_1794del p.A598del InFrameDeletion 15/18 - 1
7-140453141-A-G c.1794T>C p.A598= Synonymous 15/18 - 4
7-140453141-A-T c.1794T>A p.A598= Synonymous 15/18 - 4
7-140453141-A-C c.1794T>G p.A598= Synonymous 15/18 - 3
7-140453136-A-ACTGTACCTGCAAGAAAGT c.1798_1799insACTTTCTTGCAGGTACAG p.T599_V600insDFLAGT InFrameInsertion 15/18 - 1
7-140453142-G-A c.1793C>T p.A598V Missense 15/18 - 19
7-140453142-G-T c.1793C>A p.A598D Missense 15/18 - 1
7-140453136-A-ACTGTAGTCT c.1798_1799insAGACTACAG p.T599_V600insETT InFrameInsertion 15/18 - 2
7-140453143-C-T c.1792G>A p.A598T Missense 15/18 - 8
7-140453136-A-ACTGTAGCCT c.1798_1799insAGGCTACAG p.T599_V600insEAT InFrameInsertion 15/18 - 1
7-140453144-TAG-GTC c.1789_1791delinsGAC p.L597D Missense 15/18 - 1
7-140453137-C-CTGTAGCTTT c.1797_1798insAAAGCTACA p.T599_V600insKAT InFrameInsertion 15/18 - 1
7-140453144-TA-AT c.1790_1791delinsAT p.L597H Missense 15/18 - 1
7-140453144-T-C c.1791A>G p.L597= Synonymous 15/18 - 3
7-140453144-TAG-ATA c.1789_1791delinsTAT p.L597Y Missense 15/18 - 1
7-140453145-A-G c.1790T>C p.L597P Missense 15/18 - 9
7-140453145-A-C c.1790T>G p.L597R Missense 15/18 - 105
7-140453145-A-T c.1790T>A p.L597Q Missense 15/18 - 89
7-140453145-AG-GA c.1789_1790delinsTC p.L597S Missense 15/18 - 60
7-140453145-AG-GC c.1789_1790delinsGC p.L597A Missense 15/18 - 1
7-140453145-AG-TA c.1789_1790delinsTA p.L597* Nonsense 15/18 - 2
7-140453145-AG-TT c.1789_1790delinsAA p.L597K Missense 15/18 - 2
7-140453146-G-C c.1789C>G p.L597V Missense 15/18 - 83
7-140453146-G-A c.1789C>T p.L597= Synonymous 15/18 - 2
7-140453146-G-T c.1789C>A p.L597I Missense 15/18 - 1
7-140453147-A-C c.1788T>G p.G596= Synonymous 15/18 - 2
7-140453147-A-T c.1788T>A p.G596= Synonymous 15/18 - 2
7-140453147-A-G c.1788T>C p.G596= Synonymous 15/18 - 2
7-140453148-C-A c.1787G>T p.G596V Missense 15/18 - 30
7-140453148-CC-TT c.1786_1787delinsAA p.G596N Missense 15/18 - 2
7-140453148-C-T c.1787G>A p.G596D Missense 15/18 - 28
7-140453148-C-G c.1787G>C p.G596A Missense 15/18 - 1
7-140453149-C-G c.1786G>C p.G596R Missense 15/18 - 76
7-140453149-C-A c.1786G>T p.G596C Missense 15/18 - 7
7-140453149-C-T c.1786G>A p.G596S Missense 15/18 - 4
7-140453147-AC-A c.1787del p.G596Vfs*2 Frameshift 15/18 - 1
7-140453151-AA-CC c.1783_1784delinsGG p.F595G Missense 15/18 - 1
7-140453151-AA-CG c.1783_1784delinsCG p.F595R Missense 15/18 - 1
7-140453151-A-G c.1784T>C p.F595S Missense 15/18 - 4
7-140453151-A-T c.1784T>A p.F595Y Missense 15/18 - 3
7-140453151-A-C c.1784T>G p.F595C Missense 15/18 - 1
7-140453152-A-G c.1783T>C p.F595L Missense 15/18 - 28
7-140453150-A-T c.1785T>A p.F595L Missense 15/18 - 53
7-140453150-A-C c.1785T>G p.F595L Missense 15/18 - 56
7-140453152-A-C c.1783T>G p.F595V Missense 15/18 - 1
7-140453153-A-T c.1782T>A p.D594E Missense 15/18 - 25
7-140453153-A-C c.1782T>G p.D594E Missense 15/18 - 12
7-140453153-A-G c.1782T>C p.D594= Synonymous 15/18 - 2
7-140453153-ATC-TTA c.1780_1782delinsTAA p.D594* Nonsense 15/18 - 3
7-140453154-T-G c.1781A>C p.D594A Missense 15/18 - 52
7-140453154-T-C c.1781A>G p.D594G Missense 15/18 - 250
7-140453154-T-A c.1781A>T p.D594V Missense 15/18 - 46
7-140453154-TC-AA c.1780_1781delinsTT p.D594F Missense 15/18 - 2
7-140453154-TC-CT c.1780_1781delinsAG p.D594S Missense 15/18 - 1
7-140453154-TC-GT c.1780_1781delinsAC p.D594T Missense 15/18 - 1
7-140453155-C-T c.1780G>A p.D594N Missense 15/18 - 167
7-140453155-C-A c.1780G>T p.D594Y Missense 15/18 - 6
7-140453155-C-G c.1780G>C p.D594H Missense 15/18 - 20
7-140453155-TC-T c.1780del p.D594Ifs*4 Frameshift 15/18 - 1
7-140453156-ACC-CAT c.1777_1779delinsATG p.G593M Missense 15/18 - 1
7-140453156-A-T c.1779T>A p.G593= Synonymous 15/18 - 1
7-140453157-C-T c.1778G>A p.G593D Missense 15/18 - 5
7-140453157-CC-AA c.1777_1778delinsTT p.G593F Missense 15/18 - 1
7-140453158-C-T c.1777G>A p.G593S Missense 15/18 - 3
7-140453158-C-A c.1777G>T p.G593C Missense 15/18 - 1
7-140453159-T-C c.1776A>G p.I592M Missense 15/18 - 6
7-140453159-T-G c.1776A>C p.I592= Synonymous 15/18 - 1
7-140453159-T-A c.1776A>T p.I592= Synonymous 15/18 - 1
7-140453160-A-G c.1775T>C p.I592T Missense 15/18 - 1
7-140453161-T-C c.1774A>G p.I592V Missense 15/18 - 5
7-140453164-T-G c.1771A>C p.K591Q Missense 15/18 - 1
7-140453160-AT-A c.1774del p.I592* Frameshift 15/18 - 1
7-140453139-G-GTAGCTAGACCAAAATCACCTATTTTTT c.1795_1796insAAAAAATAGGTGATTTTGGTCTAGCTA p.A598_T599insKKIGDFGLA InFrameInsertion 15/18 - 1
7-140453166-A-G c.1769T>C p.V590A Missense 15/18 - 2
7-140453166-TA-T c.1769del p.V590Efs*3 Frameshift 15/18 - 1
7-140453166-A-C c.1769T>G p.V590G Missense 15/18 - 1
7-140453167-C-A c.1768G>T p.V590L Missense 15/18 - 1
7-140453167-C-T c.1768G>A p.V590I Missense 15/18 - 2
7-140453169-G-A c.1766C>T p.T589I Missense 15/18 - 2
7-140453169-G-T c.1766C>A p.T589K Missense 15/18 - 1
7-140453170-T-G c.1765A>C p.T589P Missense 15/18 - 1
7-140453170-T-C c.1765A>G p.T589A Missense 15/18 - 2
7-140453172-AG-TT c.1762_1763delinsAA p.L588N Missense 15/18 - 7
7-140453172-A-C c.1763T>G p.L588R Missense 15/18 - 1
7-140453173-G-A c.1762C>T p.L588F Missense 15/18 - 2
7-140453174-G-C c.1761C>G p.D587E Missense 15/18 - 4
7-140453174-G-T c.1761C>A p.D587E Missense 15/18 - 5
7-140453175-T-G c.1760A>C p.D587A Missense 15/18 - 2
7-140453176-C-T c.1759G>A p.D587N Missense 15/18 - 1
7-140453176-C-G c.1759G>C p.D587H Missense 15/18 - 1
7-140453177-T-C c.1758A>G p.E586= Synonymous 15/18 - 2
7-140453176-CT-C c.1758del p.D587Tfs*4 Frameshift 15/18 - 1
7-140453179-C-T c.1756G>A p.E586K Missense 15/18 - 41
7-140453181-T-C c.1754A>G p.H585R Missense 15/18 - 1
7-140453182-G-A c.1753C>T p.H585Y Missense 15/18 - 3
7-140453183-A-G c.1752T>C p.L584= Synonymous 15/18 - 1
7-140453184-A-G c.1751T>C p.L584P Missense 15/18 - 1
7-140453185-G-A c.1750C>T p.L584F Missense 15/18 - 16
7-140453185-G-C c.1750C>G p.L584V Missense 15/18 - 1
7-140453186-A-G c.1749T>C p.F583= Synonymous 15/18 - 1
7-140453188-A-G c.1747T>C p.F583L Missense 15/18 - 1
7-140453186-AAATATATCTGAGGTGTAGTAAGTAAAGGAAAACAGTAGATCTCATTTTCCTATCAGAGC-A c.1742-52_1748del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 15/18 14/17 1
7-140453189-T-C c.1746A>G p.I582M Missense 15/18 - 1
7-140453192-A-C c.1743T>G p.N581K Missense 15/18 - 2
7-140453192-A-T c.1743T>A p.N581K Missense 15/18 - 2
7-140453193-T-G c.1742A>C p.N581T Missense 15/18 - 9
7-140453193-T-C c.1742A>G p.N581S Missense 15/18 - 94
7-140453193-T-A c.1742A>T p.N581I Missense 15/18 - 40
7-140453216-A-G c.1742-23T>C - IntronicSNV - 14/17 1
7-140453222-T-C c.1742-29A>G - IntronicSNV - 14/17 1
7-140453222-T-G c.1742-29A>C - IntronicSNV - 14/17 1
7-140453973-T-A c.1741+14A>T - IntronicSNV - 14/17 1
7-140453987-T-C c.1741A>G p.N581D Missense 14/18 - 14
7-140453987-T-G c.1741A>C p.N581H Missense 14/18 - 5
7-140453987-T-A c.1741A>T p.N581Y Missense 14/18 - 8
7-140453989-T-C c.1739A>G p.N580S Missense 14/18 - 3
7-140453989-T-A c.1739A>T p.N580I Missense 14/18 - 1
7-140453990-T-C c.1738A>G p.N580D Missense 14/18 - 4
7-140453992-CT-GC c.1735_1736delinsGC p.S579A Missense 14/18 - 1
7-140453992-CT-TC c.1735_1736delinsGA p.S579D Missense 14/18 - 1
7-140453993-T-A c.1735A>T p.S579C Missense 14/18 - 1
7-140453994-C-G c.1734G>C p.K578N Missense 14/18 - 1
7-140453995-T-C c.1733A>G p.K578R Missense 14/18 - 2
7-140453997-G-C c.1731C>G p.L577= Synonymous 14/18 - 1
7-140453997-G-A c.1731C>T p.L577= Synonymous 14/18 - 1
7-140453999-G-A c.1729C>T p.L577F Missense 14/18 - 2
7-140454002-C-A c.1726G>T p.D576Y Missense 14/18 - 1
7-140454003-CTCTGTGGATGATTGACTTGGCGTGTAAGTA-C c.1696_1725del p.Y566_R575del SpliceAcceptorDeletion 14/18 - 1
7-140454004-C-T c.1724G>A p.R575K Missense 14/18 - 1
7-140454004-CT-GC c.1723_1724delinsGC p.R575A Missense 14/18 - 1
7-140454006-G-T c.1722C>A p.H574Q Missense 14/18 - 6
7-140454006-G-C c.1722C>G p.H574Q Missense 14/18 - 9
7-140454007-T-A c.1721A>T p.H574L Missense 14/18 - 1
7-140454008-G-T c.1720C>A p.H574N Missense 14/18 - 1
7-140454013-A-G c.1715T>C p.I572T Missense 14/18 - 1
7-140454014-T-A c.1714A>T p.I572F Missense 14/18 - 1
7-140454019-T-C c.1709A>G p.K570R Missense 14/18 - 1
7-140454022-G-C c.1706C>G p.A569G Missense 14/18 - 1
7-140454023-C-T c.1705G>A p.A569T Missense 14/18 - 1
7-140454026-G-C c.1702C>G p.H568D Missense 14/18 - 2
7-140454027-T-C c.1701A>G p.L567= Synonymous 14/18 - 1
7-140454028-AA-GG c.1699_1700delinsCC p.L567P Missense 14/18 - 4
7-140454028-AA-TC c.1699_1700delinsGA p.L567E Missense 14/18 - 1
7-140454029-A-C c.1699T>G p.L567V Missense 14/18 - 3
7-140454033-A-C c.1695T>G p.D565E Missense 14/18 - 1
7-140454033-A-T c.1695T>A p.D565E Missense 14/18 - 1
7-140454973-G-C c.1695-940C>G - IntronicSNV - 13/17 2
7-140454973-G-A c.1695-940C>T - IntronicSNV - 13/17 2
7-140454973-G-T c.1695-940C>A - IntronicSNV - 13/17 2
7-140476711-C-CT c.1694dup p.D565Efs*16 SpliceDonorInsertion 13/18 - 1
7-140476712-T-C c.1694A>G p.D565G Missense 13/18 - 2
7-140476713-C-T c.1693G>A p.D565N Missense 13/18 - 2
7-140476716-T-C c.1690A>G p.M564V Missense 13/18 - 1
7-140476720-CTG-GTT c.1684_1686delinsAAC p.Q562N Missense 13/18 - 1
7-140476721-T-C c.1685A>G p.Q562R Missense 13/18 - 7
7-140476721-T-A c.1685A>T p.Q562L Missense 13/18 - 1
7-140476724-G-T c.1682C>A p.A561E Missense 13/18 - 1
7-140476725-C-T c.1681G>A p.A561T Missense 13/18 - 1
7-140476730-T-C c.1676A>G p.Q559R Missense 13/18 - 1
7-140476732-GTCGTGCAATATCTAT-G c.1660_1674del p.I554_R558del InFrameDeletion 13/18 - 1
7-140476732-TC-AT c.1673_1674delinsAT p.R558H Missense 13/18 - 1
7-140476733-C-T c.1673G>A p.R558Q Missense 13/18 - 2
7-140476736-TGCAATATCTATAAGTTTG-T c.1653_1670del p.K552_A557del InFrameDeletion 13/18 - 1
7-140476739-A-G c.1667T>C p.I556T Missense 13/18 - 2
7-140476744-TAT-GCTATAAAG c.1660_1662delinsCTTTATAGC p.I554delinsLYS MultiAAMissense 13/18 - 1
7-140476745-A-G c.1661T>C p.I554T Missense 13/18 - 2
7-140476749-G-A c.1657C>T p.L553F Missense 13/18 - 1
7-140476751-T-A c.1655A>T p.K552I Missense 13/18 - 1
7-140476753-GA-CT c.1652_1653delinsAG p.I551K Missense 13/18 - 7
7-140476753-G-C c.1653C>G p.I551M Missense 13/18 - 1
7-140476754-A-T c.1652T>A p.I551N Missense 13/18 - 1
7-140476755-T-C c.1651A>G p.I551V Missense 13/18 - 1
7-140476758-T-G c.1648A>C p.M550L Missense 13/18 - 1
7-140476759-C-G c.1647G>C p.E549D Missense 13/18 - 1
7-140476759-C-A c.1647G>T p.E549D Missense 13/18 - 1
7-140476761-C-T c.1645G>A p.E549K Missense 13/18 - 1
7-140476761-C-G c.1645G>C p.E549Q Missense 13/18 - 1
7-140476766-T-C c.1640A>G p.K547R Missense 13/18 - 1
7-140476770-T-C c.1636A>G p.T546A Missense 13/18 - 1
7-140476771-C-G c.1635G>C p.E545D Missense 13/18 - 1
7-140476771-C-A c.1635G>T p.E545D Missense 13/18 - 1
7-140476772-T-G c.1634A>C p.E545A Missense 13/18 - 4
7-140476772-T-C c.1634A>G p.E545G Missense 13/18 - 6
7-140476773-C-T c.1633G>A p.E545K Missense 13/18 - 38
7-140476773-C-A c.1633G>T p.E545* Nonsense 13/18 - 1
7-140476773-C-G c.1633G>C p.E545Q Missense 13/18 - 3
7-140476775-A-C c.1631T>G p.I544S Missense 13/18 - 7
7-140476778-AT-GC c.1627_1628delinsGC p.I543A Missense 13/18 - 7
7-140476782-G-A c.1624C>T p.H542Y Missense 13/18 - 2
7-140476783-GAG-CAT c.1621_1623delinsATG p.L541M Missense 13/18 - 1
7-140476785-G-A c.1621C>T p.L541F Missense 13/18 - 1
7-140476790-T-G c.1616A>C p.H539P Missense 13/18 - 1
7-140476796-A-G c.1610T>C p.L537S Missense 13/18 - 1
7-140476797-A-G c.1609T>C p.L537= Synonymous 13/18 - 1
7-140476795-C-T c.1611G>A p.L537= Synonymous 13/18 - 1
7-140476797-A-T c.1609T>A p.L537M Missense 13/18 - 1
7-140476799-C-A c.1607G>T p.S536I Missense 13/18 - 1
7-140476804-G-A c.1602C>T p.G534= Synonymous 13/18 - 1
7-140476805-C-A c.1601G>T p.G534V Missense 13/18 - 1
7-140476806-C-G c.1600G>C p.G534R Missense 13/18 - 7
7-140476809-C-T c.1597G>A p.E533K Missense 13/18 - 1
7-140476811-C-T c.1595G>A p.C532Y Missense 13/18 - 3
7-140476811-CA-GC c.1594_1595delinsGC p.C532A Missense 13/18 - 1
7-140476813-C-A c.1593G>T p.W531C Missense 13/18 - 7
7-140476813-C-G c.1593G>C p.W531C Missense 13/18 - 9
7-140476814-C-A c.1592G>T p.W531L Missense 13/18 - 4
7-140476814-C-T c.1592G>A p.W531* Nonsense 13/18 - 1
7-140476813-C-T c.1593G>A p.W531* Nonsense 13/18 - 1
7-140476815-A-T c.1591T>A p.W531R Missense 13/18 - 3
7-140476815-A-G c.1591T>C p.W531R Missense 13/18 - 2
7-140476819-GG-CA c.1586_1587delinsTG p.T529M Missense 13/18 - 5
7-140476820-G-A c.1586C>T p.T529I Missense 13/18 - 1
7-140476820-G-T c.1586C>A p.T529N Missense 13/18 - 10
7-140476824-C-A c.1582G>T p.V528F Missense 13/18 - 1
7-140476829-G-A c.1577C>T p.A526V Missense 13/18 - 1
7-140476832-A-C c.1574T>G p.L525R Missense 13/18 - 6
7-140476832-A-G c.1574T>C p.L525P Missense 13/18 - 4
7-140476832-A-T c.1574T>A p.L525Q Missense 13/18 - 1
7-140476832-AG-TC c.1573_1574delinsGA p.L525E Missense 13/18 - 1
7-140476835-T-A c.1571A>T p.Q524L Missense 13/18 - 5
7-140476838-G-A c.1568C>T p.P523L Missense 13/18 - 1
7-140476844-G-T c.1562C>A p.T521K Missense 13/18 - 1
7-140476854-C-T c.1552G>A p.G518S Missense 13/18 - 1
7-140476856-AT-GC c.1549_1550delinsGC p.M517A Missense 13/18 - 1
7-140476856-AT-CA c.1549_1550delinsTG p.M517W Missense 13/18 - 1
7-140476857-T-C c.1549A>G p.M517V Missense 13/18 - 1
7-140476859-AA-GC c.1546_1547delinsGC p.F516A Missense 13/18 - 2
7-140476859-AA-CC c.1546_1547delinsGG p.F516G Missense 13/18 - 1
7-140476859-AA-TC c.1546_1547delinsGA p.F516D Missense 13/18 - 1
7-140476859-A-C c.1547T>G p.F516C Missense 13/18 - 1
7-140476860-A-G c.1546T>C p.F516L Missense 13/18 - 2
7-140476858-G-T c.1548C>A p.F516L Missense 13/18 - 2
7-140476858-G-C c.1548C>G p.F516L Missense 13/18 - 2
7-140476862-AG-CC c.1543_1544delinsGG p.L515G Missense 13/18 - 2
7-140476863-G-T c.1543C>A p.L515I Missense 13/18 - 1
7-140476865-AG-GC c.1540_1541delinsGC p.L514A Missense 13/18 - 2
7-140476866-G-C c.1540C>G p.L514V Missense 13/18 - 7
7-140476866-G-T c.1540C>A p.L514I Missense 13/18 - 1
7-140476867-GAT-CTC c.1537_1539delinsGAG p.I513E Missense 13/18 - 1
7-140476868-AT-GC c.1537_1538delinsGC p.I513A Missense 13/18 - 1
7-140476871-TT-GC c.1534_1535delinsGC p.N512A Missense 13/18 - 1
7-140476873-CAC-ACA c.1531_1533delinsTGT p.V511C Missense 13/18 - 1
7-140476874-AC-TA c.1531_1532delinsTA p.V511* Nonsense 13/18 - 1
7-140476874-A-G c.1532T>C p.V511A Missense 13/18 - 2
7-140476875-C-T c.1531G>A p.V511M Missense 13/18 - 1
7-140476877-TG-AA c.1528_1529delinsTT p.H510F Missense 13/18 - 1
7-140476877-TG-GC c.1528_1529delinsGC p.H510A Missense 13/18 - 1
7-140476879-TC-AT c.1526_1527delinsAT p.R509H Missense 13/18 - 47
7-140476880-C-A c.1526G>T p.R509L Missense 13/18 - 1
7-140476880-C-T c.1526G>A p.R509Q Missense 13/18 - 3
7-140476880-CG-GC c.1525_1526delinsGC p.R509A Missense 13/18 - 3
7-140476881-G-A c.1525C>T p.R509* Nonsense 13/18 - 2
7-140476882-TGT-GTC c.1522_1524delinsGAC p.T508D Missense 13/18 - 1
7-140476883-G-A c.1523C>T p.T508I Missense 13/18 - 1
7-140476883-G-T c.1523C>A p.T508K Missense 13/18 - 1
7-140476884-T-C c.1522A>G p.T508A Missense 13/18 - 2
7-140476886-TT-GC c.1519_1520delinsGC p.K507A Missense 13/18 - 2
7-140476886-T-C c.1520A>G p.K507R Missense 13/18 - 1
7-140476887-T-C c.1519A>G p.K507E Missense 13/18 - 1
7-140477791-CT-GC c.1516_1517delinsGC p.R506A Missense 12/18 - 3
7-140477791-CT-TC c.1516_1517delinsGA p.R506E Missense 12/18 - 1
7-140477791-CT-AG c.1516_1517inv p.R506L Missense 12/18 - 1
7-140477792-T-C c.1516A>G p.R506G Missense 12/18 - 1
7-140477793-GAG-CAT c.1513_1515delinsATG p.L505M Missense 12/18 - 3
7-140477794-A-T c.1514T>A p.L505H Missense 12/18 - 26
7-140477794-AG-CA c.1513_1514delinsTG p.L505C Missense 12/18 - 1
7-140477794-AG-GC c.1513_1514delinsGC p.L505A Missense 12/18 - 1
7-140477795-G-A c.1513C>T p.L505F Missense 12/18 - 9
7-140477796-T-G c.1512A>C p.V504= Synonymous 12/18 - 1
7-140477796-T-C c.1512A>G p.V504= Synonymous 12/18 - 1
7-140477796-T-A c.1512A>T p.V504= Synonymous 12/18 - 1
7-140477798-C-T c.1510G>A p.V504I Missense 12/18 - 1
7-140477797-A-ACATAGG c.1510_1511insCCTATG p.G503_V504insAY InFrameInsertion 12/18 - 1
7-140477793-G-GAGTACCTGA c.1514_1515insTCAGGTACT p.L505_R506insQVL InFrameInsertion 12/18 - 1
7-140477800-C-A c.1508G>T p.G503V Missense 12/18 - 1
7-140477801-C-T c.1507G>A p.G503R Missense 12/18 - 1
7-140477801-C-G c.1507G>C p.G503R Missense 12/18 - 1
7-140477806-T-C c.1502A>G p.E501G Missense 12/18 - 13
7-140477806-T-G c.1502A>C p.E501A Missense 12/18 - 2
7-140477806-T-A c.1502A>T p.E501V Missense 12/18 - 2
7-140477807-C-T c.1501G>A p.E501K Missense 12/18 - 14
7-140477807-C-A c.1501G>T p.E501* Nonsense 12/18 - 1
7-140477811-T-G c.1497A>C p.K499N Missense 12/18 - 11
7-140477811-T-A c.1497A>T p.K499N Missense 12/18 - 6
7-140477813-T-C c.1495A>G p.K499E Missense 12/18 - 14
7-140477815-AA-GC c.1492_1493delinsGC p.F498A Missense 12/18 - 1
7-140477815-A-G c.1493T>C p.F498S Missense 12/18 - 1
7-140477818-G-A c.1490C>T p.A497V Missense 12/18 - 1
7-140477818-G-C c.1490C>G p.A497G Missense 12/18 - 1
7-140477822-G-A c.1486C>T p.Q496* Nonsense 12/18 - 2
7-140477826-C-A c.1482G>T p.Q494H Missense 12/18 - 1
7-140477826-ACTGCTGAGGTGTAGG-A c.1468_1482del p.P490_Q494del InFrameDeletion 12/18 - 1
7-140477825-ACTG-A c.1480_1482del p.Q494del InFrameDeletion 12/18 - 2
7-140477829-C-A c.1479G>T p.Q493H Missense 12/18 - 1
7-140477829-C-G c.1479G>C p.Q493H Missense 12/18 - 1
7-140477830-TGAGGTGTAGGTGCTGTC-CGT c.1461_1478delinsACG p.T488_Q493delinsR MultiAAMissense 12/18 - 1
7-140477830-TGAG-T c.1475_1477del p.P492del InFrameDeletion 12/18 - 2
7-140477833-G-T c.1475C>A p.P492H Missense 12/18 - 1
7-140477834-GGTGTAGGTGCTGTCA-G c.1460_1474del p.V487_P492delinsA MultiAAMissense 12/18 - 1
7-140477835-GTGT-G c.1471_1473del p.T491del InFrameDeletion 12/18 - 1
7-140477838-TAGG-T c.1468_1470del p.P490del InFrameDeletion 12/18 - 16
7-140477836-GTAGGTGCTGTCACAT-G c.1457_1471del p.N486_P490del InFrameDeletion 12/18 - 7
7-140477839-AGGTGCTGTCACATTC-A c.1455_1469del p.L485_P490delinsF MultiAAMissense 12/18 - 3
7-140477840-G-A c.1468C>T p.P490S Missense 12/18 - 1
7-140477842-TGCTGTCACA-T c.1458_1466del p.N486_A489delinsK MultiAAMissense 12/18 - 3
7-140477842-G-T c.1466C>A p.A489E Missense 12/18 - 1
7-140477847-TCAC-T c.1459_1461del p.V487del InFrameDeletion 12/18 - 1
7-140477847-CAC-ATA c.1459_1461delinsTAT p.V487Y Missense 12/18 - 1
7-140477847-CAC-GAT c.1459_1461delinsATC p.V487I Missense 12/18 - 1
7-140477848-A-C c.1460T>G p.V487G Missense 12/18 - 5
7-140477848-AC-GA c.1459_1460delinsTC p.V487S Missense 12/18 - 1
7-140477848-A-T c.1460T>A p.V487E Missense 12/18 - 1
7-140477848-A-G c.1460T>C p.V487A Missense 12/18 - 1
7-140477850-CATTCAACAT-C c.1450_1458del p.M484_N486del InFrameDeletion 12/18 - 1
7-140477853-C-A c.1455G>T p.L485F Missense 12/18 - 18
7-140477853-C-G c.1455G>C p.L485F Missense 12/18 - 27
7-140477854-A-C c.1454T>G p.L485W Missense 12/18 - 9
7-140477854-A-G c.1454T>C p.L485S Missense 12/18 - 5
7-140477856-C-A c.1452G>T p.M484I Missense 12/18 - 1
7-140477857-A-G c.1451T>C p.M484T Missense 12/18 - 1
7-140477859-TT-CA c.1448_1449delinsTG p.K483M Missense 12/18 - 16
7-140477859-T-G c.1449A>C p.K483N Missense 12/18 - 2
7-140477859-T-A c.1449A>T p.K483N Missense 12/18 - 2
7-140477860-T-G c.1448A>C p.K483T Missense 12/18 - 1
7-140477860-T-C c.1448A>G p.K483R Missense 12/18 - 1
7-140477861-T-C c.1447A>G p.K483E Missense 12/18 - 16
7-140477861-T-G c.1447A>C p.K483Q Missense 12/18 - 4
7-140477862-CAC-AAA c.1444_1446delinsTTT p.V482F Missense 12/18 - 2
7-140477864-C-T c.1444G>A p.V482M Missense 12/18 - 1
7-140477865-TGC-AAA c.1441_1443delinsTTT p.A481F Missense 12/18 - 7
7-140477866-G-T c.1442C>A p.A481E Missense 12/18 - 1
7-140477870-C-G c.1438G>C p.V480L Missense 12/18 - 1
7-140477870-C-A c.1438G>T p.V480L Missense 12/18 - 1
7-140477870-C-T c.1438G>A p.V480M Missense 12/18 - 1
7-140477873-C-T c.1435G>A p.D479N Missense 12/18 - 2
7-140478254-G-T c.1433-379C>A - IntronicSNV - 11/17 1
7-140481309-TACAAAA-T c.1432+62_1432+67del - IntronicDeletion - 11/17 1
7-140481375-ACC-A c.1432_1432+1del - SpliceDonorDeletion 11/18 11/17 1
7-140481376-C-A c.1432G>T p.G478C Missense 11/18 - 1
7-140481381-C-T c.1427G>A p.W476* Nonsense 11/18 - 2
7-140481380-C-T c.1428G>A p.W476* Nonsense 11/18 - 2
7-140481384-T-C c.1424A>G p.K475R Missense 11/18 - 1
7-140481389-C-G c.1419G>C p.K473N Missense 11/18 - 1
7-140481389-C-A c.1419G>T p.K473N Missense 11/18 - 1
7-140481390-T-C c.1418A>G p.K473R Missense 11/18 - 2
7-140481393-T-C c.1415A>G p.Y472C Missense 11/18 - 20
7-140481393-T-G c.1415A>C p.Y472S Missense 11/18 - 1
7-140481393-T-A c.1415A>T p.Y472F Missense 11/18 - 1
7-140481396-A-G c.1412T>C p.V471A Missense 11/18 - 1
7-140481397-C-A c.1411G>T p.V471F Missense 11/18 - 21
7-140481397-C-T c.1411G>A p.V471I Missense 11/18 - 7
7-140481398-T-A c.1410A>T p.T470= Synonymous 11/18 - 1
7-140481399-G-C c.1409C>G p.T470R Missense 11/18 - 1
7-140481399-G-T c.1409C>A p.T470K Missense 11/18 - 1
7-140481397-CTGT-C c.1408_1410del p.T470del InFrameDeletion 11/18 - 1
7-140481400-T-C c.1408A>G p.T470A Missense 11/18 - 1
7-140481400-T-G c.1408A>C p.T470P Missense 11/18 - 3
7-140481401-TCC-GCT c.1405_1407delinsAGC p.G469S Missense 11/18 - 25
7-140481401-TTCC-T c.1405_1407del p.G469del InFrameDeletion 11/18 - 4
7-140481401-TC-GT c.1406_1407delinsAC p.G469D Missense 11/18 - 1
7-140481401-T-A c.1407A>T p.G469= Synonymous 11/18 - 1
7-140481401-T-C c.1407A>G p.G469= Synonymous 11/18 - 1
7-140481401-T-G c.1407A>C p.G469= Synonymous 11/18 - 1
7-140481402-C-G c.1406G>C p.G469A Missense 11/18 - 343
7-140481402-C-A c.1406G>T p.G469V Missense 11/18 - 111
7-140481402-CC-AG c.1405_1406delinsCT p.G469L Missense 11/18 - 10
7-140481402-C-T c.1406G>A p.G469E Missense 11/18 - 107
7-140481402-CC-GT c.1405_1406delinsAC p.G469T Missense 11/18 - 1
7-140481402-CC-TT c.1405_1406delinsAA p.G469K Missense 11/18 - 1
7-140481403-C-G c.1405G>C p.G469R Missense 11/18 - 81
7-140481403-C-T c.1405G>A p.G469R Missense 11/18 - 77
7-140481403-C-A c.1405G>T p.G469* Nonsense 11/18 - 5
7-140481405-A-G c.1403T>C p.F468S Missense 11/18 - 17
7-140481405-A-C c.1403T>G p.F468C Missense 11/18 - 17
7-140481406-A-G c.1402T>C p.F468L Missense 11/18 - 2
7-140481404-A-T c.1404T>A p.F468L Missense 11/18 - 1
7-140481404-A-C c.1404T>G p.F468L Missense 11/18 - 1
7-140481407-TG-AA c.1400_1401delinsTT p.S467F Missense 11/18 - 1
7-140481408-G-A c.1400C>T p.S467L Missense 11/18 - 32
7-140481409-A-C c.1399T>G p.S467A Missense 11/18 - 11
7-140481409-A-T c.1399T>A p.S467T Missense 11/18 - 1
7-140481410-T-A c.1398A>T p.G466= Synonymous 11/18 - 1
7-140481410-T-C c.1398A>G p.G466= Synonymous 11/18 - 1
7-140481410-T-G c.1398A>C p.G466= Synonymous 11/18 - 1
7-140481411-C-A c.1397G>T p.G466V Missense 11/18 - 164
7-140481411-C-T c.1397G>A p.G466E Missense 11/18 - 107
7-140481411-C-G c.1397G>C p.G466A Missense 11/18 - 74
7-140481412-C-T c.1396G>A p.G466R Missense 11/18 - 47
7-140481412-C-G c.1396G>C p.G466R Missense 11/18 - 43
7-140481412-C-A c.1396G>T p.G466* Nonsense 11/18 - 2
7-140481412-C-CA c.1395dup p.G466Wfs*14 Frameshift 11/18 - 1
7-140481413-AGA-CTC c.1393_1395delinsGAG p.S465E Missense 11/18 - 1
7-140481414-GA-TC c.1393_1394inv p.S465D Missense 11/18 - 2
7-140481414-G-A c.1394C>T p.S465F Missense 11/18 - 2
7-140481414-G-T c.1394C>A p.S465Y Missense 11/18 - 2
7-140481415-A-C c.1393T>G p.S465A Missense 11/18 - 2
7-140481416-T-A c.1392A>T p.G464= Synonymous 11/18 - 1
7-140481416-T-C c.1392A>G p.G464= Synonymous 11/18 - 1
7-140481416-T-G c.1392A>C p.G464= Synonymous 11/18 - 1
7-140481417-C-T c.1391G>A p.G464E Missense 11/18 - 55
7-140481417-C-A c.1391G>T p.G464V Missense 11/18 - 97
7-140481417-C-G c.1391G>C p.G464A Missense 11/18 - 4
7-140481417-CC-AT c.1390_1391delinsAT p.G464I Missense 11/18 - 1
7-140481418-C-T c.1390G>A p.G464R Missense 11/18 - 21
7-140481418-C-G c.1390G>C p.G464R Missense 11/18 - 11
7-140481420-A-G c.1388T>C p.I463T Missense 11/18 - 2
7-140481420-A-C c.1388T>G p.I463S Missense 11/18 - 5
7-140481423-C-A c.1385G>T p.R462I Missense 11/18 - 8
7-140481423-CT-TC c.1384_1385delinsGA p.R462E Missense 11/18 - 2
7-140481423-C-T c.1385G>A p.R462K Missense 11/18 - 4
7-140481423-C-G c.1385G>C p.R462T Missense 11/18 - 3
7-140481423-CT-GC c.1384_1385delinsGC p.R462A Missense 11/18 - 1
7-140481424-T-C c.1384A>G p.R462G Missense 11/18 - 1
7-140481425-T-C c.1383A>G p.Q461= Synonymous 11/18 - 2
7-140481423-CTT-C c.1383_1384del p.R462Nfs*17 Frameshift 11/18 - 1
7-140481424-TTTG-T c.1381_1383del p.Q461del InFrameDeletion 11/18 - 1
7-140481427-G-A c.1381C>T p.Q461* Nonsense 11/18 - 1
7-140481429-C-T c.1379G>A p.G460E Missense 11/18 - 2
7-140481430-C-T c.1378G>A p.G460R Missense 11/18 - 2
7-140481431-C-T c.1377G>A p.V459= Synonymous 11/18 - 1
7-140481431-C-G c.1377G>C p.V459= Synonymous 11/18 - 1
7-140481431-C-A c.1377G>T p.V459= Synonymous 11/18 - 1
7-140481432-A-G c.1376T>C p.V459A Missense 11/18 - 1
7-140481433-C-G c.1375G>C p.V459L Missense 11/18 - 6
7-140481433-C-A c.1375G>T p.V459L Missense 11/18 - 6
7-140481438-A-G c.1370T>C p.I457T Missense 11/18 - 1
7-140481440-C-A c.1368G>T p.Q456H Missense 11/18 - 1
7-140481440-C-G c.1368G>C p.Q456H Missense 11/18 - 1
7-140481441-T-C c.1367A>G p.Q456R Missense 11/18 - 2
7-140481442-G-T c.1366C>A p.Q456K Missense 11/18 - 2
7-140481445-C-T c.1363G>A p.G455R Missense 11/18 - 3
7-140481445-C-G c.1363G>C p.G455R Missense 11/18 - 1
7-140481446-ATC-CCA c.1360_1362delinsTGG p.D454W Missense 11/18 - 1
7-140481447-T-C c.1361A>G p.D454G Missense 11/18 - 1
7-140481444-CCAT-C c.1361_1363del p.D454del InFrameDeletion 11/18 - 1
7-140481448-C-G c.1360G>C p.D454H Missense 11/18 - 1
7-140481450-G-A c.1358C>T p.P453L Missense 11/18 - 1
7-140481450-G-T c.1358C>A p.P453H Missense 11/18 - 2
7-140481451-G-T c.1357C>A p.P453T Missense 11/18 - 3
7-140481451-G-C c.1357C>G p.P453A Missense 11/18 - 1
7-140481452-A-C c.1356T>G p.I452M Missense 11/18 - 1
7-140481453-A-G c.1355T>C p.I452T Missense 11/18 - 1
7-140481453-A-C c.1355T>G p.I452S Missense 11/18 - 1
7-140481455-C-G c.1353G>C p.E451D Missense 11/18 - 1
7-140481455-C-A c.1353G>T p.E451D Missense 11/18 - 1
7-140481457-C-G c.1351G>C p.E451Q Missense 11/18 - 4
7-140481457-C-T c.1351G>A p.E451K Missense 11/18 - 3
7-140481459-C-T c.1349G>A p.W450* Nonsense 11/18 - 2
7-140481458-C-T c.1350G>A p.W450* Nonsense 11/18 - 1
7-140481459-CA-GC c.1348_1349delinsGC p.W450A Missense 11/18 - 2
7-140481459-C-A c.1349G>T p.W450L Missense 11/18 - 1
7-140481461-A-C c.1347T>G p.D449E Missense 11/18 - 4
7-140481461-A-T c.1347T>A p.D449E Missense 11/18 - 4
7-140481463-C-T c.1345G>A p.D449N Missense 11/18 - 2
7-140481463-C-A c.1345G>T p.D449Y Missense 11/18 - 1
7-140481465-T-G c.1343A>C p.D448A Missense 11/18 - 1
7-140481466-C-A c.1342G>T p.D448Y Missense 11/18 - 1
7-140481470-C-A c.1338G>T p.S446= Synonymous 11/18 - 1
7-140481470-C-G c.1338G>C p.S446= Synonymous 11/18 - 1
7-140481470-C-T c.1338G>A p.S446= Synonymous 11/18 - 1
7-140481471-G-A c.1337C>T p.S446L Missense 11/18 - 1
7-140481475-C-A c.1333G>T p.D445Y Missense 11/18 - 1
7-140481476-C-T c.1332G>A p.R444= Synonymous 11/18 - 1
7-140481477-C-T c.1331G>A p.R444Q Missense 11/18 - 2
7-140481478-G-A c.1330C>T p.R444W Missense 11/18 - 6
7-140481480-C-G c.1328G>C p.R443T Missense 11/18 - 1
7-140481480-CT-GC c.1327_1328delinsGC p.R443A Missense 11/18 - 1
7-140481480-C-T c.1328G>A p.R443K Missense 11/18 - 1
7-140481481-T-C c.1327A>G p.R443G Missense 11/18 - 1
7-140481482-A-G c.1326T>C p.G442= Synonymous 11/18 - 1
7-140481483-C-T c.1325G>A p.G442D Missense 11/18 - 2
7-140481484-C-T c.1324G>A p.G442S Missense 11/18 - 3
7-140481487-G-T c.1321C>A p.L441I Missense 11/18 - 2
7-140481489-G-A c.1319C>T p.T440I Missense 11/18 - 1
7-140481490-T-G c.1318A>C p.T440P Missense 11/18 - 4
7-140481490-T-C c.1318A>G p.T440A Missense 11/18 - 1
7-140481491-T-C c.1317A>G p.K439= Synonymous 11/18 - 1
7-140481492-T-G c.1316A>C p.K439T Missense 11/18 - 1
7-140481493-T-G c.1315A>C p.K439Q Missense 11/18 - 1
7-140481502-A-G c.1315-9T>C - IntronicSNV - 10/17 1
7-140482263-C-CA c.1314+557dup - IntronicInsertion - 10/17 1
7-140482281-C-A c.1314+540G>T - IntronicSNV - 10/17 1
7-140482668-C-G c.1314+153G>C - IntronicSNV - 10/17 1
7-140482821-CCAT-C c.1312_1314del p.M438del InFrameDeletion 10/18 - 1
7-140482830-C-G c.1305G>C p.R435S Missense 10/18 - 1
7-140482830-C-A c.1305G>T p.R435S Missense 10/18 - 1
7-140482838-C-T c.1297G>A p.E433K Missense 10/18 - 1
7-140482841-A-G c.1294T>C p.S432P Missense 10/18 - 1
7-140482843-GA-TC c.1291_1292inv p.S431D Missense 10/18 - 1
7-140482843-G-A c.1292C>T p.S431F Missense 10/18 - 1
7-140482844-A-C c.1291T>G p.S431A Missense 10/18 - 1
7-140482849-G-T c.1286C>A p.S429Y Missense 10/18 - 2
7-140482849-GA-CG c.1285_1286delinsCG p.S429R Missense 10/18 - 1
7-140482850-A-C c.1285T>G p.S429A Missense 10/18 - 2
7-140482864-CG-TT c.1270_1271delinsAA p.R424K Missense 10/18 - 1
7-140482864-C-T c.1271G>A p.R424Q Missense 10/18 - 3
7-140482865-G-A c.1270C>T p.R424* Nonsense 10/18 - 2
7-140482867-T-C c.1268A>G p.Q423R Missense 10/18 - 1
7-140482874-C-T c.1261G>A p.G421R Missense 10/18 - 1
7-140482874-C-G c.1261G>C p.G421R Missense 10/18 - 1
7-140482878-AG-TT c.1256_1257delinsAA p.S419* Nonsense 10/18 - 1
7-140482882-T-C c.1253A>G p.K418R Missense 10/18 - 2
7-140482883-T-G c.1252A>C p.K418Q Missense 10/18 - 1
7-140482884-C-A c.1251G>T p.Q417H Missense 10/18 - 1
7-140482884-C-G c.1251G>C p.Q417H Missense 10/18 - 1
7-140482891-G-A c.1244C>T p.A415V Missense 10/18 - 1
7-140482898-C-T c.1237G>A p.V413M Missense 10/18 - 4
7-140482898-C-G c.1237G>C p.V413L Missense 10/18 - 1
7-140482898-C-A c.1237G>T p.V413L Missense 10/18 - 1
7-140482899-G-C c.1236C>G p.N412K Missense 10/18 - 1
7-140482899-G-T c.1236C>A p.N412K Missense 10/18 - 1
7-140482906-A-T c.1229T>A p.L410Q Missense 10/18 - 1
7-140482910-A-C c.1225T>G p.S409A Missense 10/18 - 1
7-140482915-G-A c.1220C>T p.P407L Missense 10/18 - 1
7-140482916-G-A c.1219C>T p.P407S Missense 10/18 - 1
7-140482918-A-T c.1217T>A p.L406* Nonsense 10/18 - 1
7-140482918-A-C c.1217T>G p.L406* Nonsense 10/18 - 1
7-140482922-A-C c.1213T>G p.S405A Missense 10/18 - 1
7-140482925-C-CA c.1209dup p.A404Cfs*9 Frameshift 10/18 - 2
7-140482927-G-A c.1208C>T p.P403L Missense 10/18 - 2
7-140482928-G-A c.1207C>T p.P403S Missense 10/18 - 1
7-140482930-G-T c.1205C>A p.P402H Missense 10/18 - 4
7-140482931-G-C c.1204C>G p.P402A Missense 10/18 - 1
7-140482929-G-GGGCGCGCTGCAGGTGGAGCAGCTGGAGCCGCCGAGGTGCGTC c.1205_1206insGACGCACCTCGGCGGCTCCAGCTGCTCCACCTGCAGCGCGCC p.P402_P403insTHLGGSSCSTCSAP InFrameInsertion 10/18 - 1
7-140482933-G-A c.1202C>T p.T401I Missense 10/18 - 2
7-140482926-AG-A c.1208del p.P403Lfs*8 Frameshift 10/18 - 4
7-140482926-A-AG c.1208dup p.A404Cfs*9 Frameshift 10/18 - 5
7-140482934-T-C c.1201A>G p.T401A Missense 10/18 - 2
7-140482942-AA-GG c.1192_1193delinsCC p.L398P Missense 10/18 - 1
7-140482945-C-T c.1190G>A p.G397D Missense 10/18 - 2
7-140482946-C-T c.1189G>A p.G397S Missense 10/18 - 1
7-140482946-C-A c.1189G>T p.G397C Missense 10/18 - 1
7-140482953-TGA-GTC c.1180_1182delinsGAC p.S394D Missense 10/18 - 1
7-140482955-A-G c.1180T>C p.S394P Missense 10/18 - 1
7-140482955-A-C c.1180T>G p.S394A Missense 10/18 - 1
7-140482956-TC-GT c.1178_1179delinsAC p.G393D Missense 10/18 - 3
7-140482957-C-T c.1178G>A p.G393E Missense 10/18 - 1
7-140483061-G-C c.1178-104C>G - IntronicSNV - 9/17 1
7-140483331-T-A c.1178-374A>T - IntronicSNV - 9/17 1
7-140483400-T-C c.1178-443A>G - IntronicSNV - 9/17 1
7-140485234-G-A c.1177+2114C>T - IntronicSNV - 9/17 1
7-140485690-C-A c.1177+1658G>T - IntronicSNV - 9/17 1
7-140485690-C-T c.1177+1658G>A - IntronicSNV - 9/17 1
7-140485727-G-A c.1177+1621C>T - IntronicSNV - 9/17 1
7-140486112-T-A c.1177+1236A>T - IntronicSNV - 9/17 1
7-140486196-G-C c.1177+1152C>G - IntronicSNV - 9/17 1
7-140487079-C-T c.1177+269G>A - IntronicSNV - 9/17 1
7-140487190-G-A c.1177+158C>T - IntronicSNV - 9/17 1
7-140487202-C-T c.1177+146G>A - IntronicSNV - 9/17 1
7-140487353-T-C c.1172A>G p.D391G Missense 9/18 - 1
7-140487357-C-G c.1168G>C p.G390R Missense 9/18 - 1
7-140487358-ACG-TCA c.1165_1167delinsTGA p.R389* Nonsense 9/18 - 1
7-140487359-C-T c.1166G>A p.R389H Missense 9/18 - 3
7-140487360-G-A c.1165C>T p.R389C Missense 9/18 - 5
7-140487360-G-C c.1165C>G p.R389G Missense 9/18 - 1
7-140487366-C-T c.1159G>A p.G387R Missense 9/18 - 1
7-140487373-TCT-ATG c.1150_1152delinsCAT p.R384H Missense 9/18 - 1
7-140487374-C-T c.1151G>A p.R384K Missense 9/18 - 1
7-140487375-T-C c.1150A>G p.R384G Missense 9/18 - 2
7-140487381-A-C c.1144T>G p.L382V Missense 9/18 - 1
7-140487383-T-C c.1142A>G p.D381G Missense 9/18 - 1
7-140487386-T-C c.1141-2A>G - IntronicSNV - 8/17 1
7-140487403-G-A c.1141-19C>T - IntronicSNV - 8/17 1
7-140491977-C-A c.1140+2131G>T - IntronicSNV - 8/17 1
7-140492039-T-C c.1140+2069A>G - IntronicSNV - 8/17 1
7-140494110-C-A c.1138G>T p.D380Y Missense 8/18 - 2
7-140494107-CATCA-C c.1137_1140del p.I379Mfs*3 SpliceDonorDeletion 8/18 - 1
7-140494110-C-T c.1138G>A p.D380N Missense 8/18 - 2
7-140494115-T-C c.1133A>G p.N378S Missense 8/18 - 1
7-140494118-A-T c.1130T>A p.V377D Missense 8/18 - 1
7-140494125-C-A c.1123G>T p.E375* Nonsense 8/18 - 2
7-140494131-T-A c.1117A>T p.T373S Missense 8/18 - 2
7-140494140-G-GTACGTTAGGTGCGCTGCTGCTCCTGTCCCTTTGACCAAATTGGTTCCTATGGTCCTCGTCTGCCCACTCAAGCTC c.1107_1108insGAGCTTGAGTGGGCAGACGAGGACCATAGGAACCAATTTGGTCAAAGGGACAGGAGCAGCAGCGCACCTAACGTA p.V369_H370insELEWADEDHRNQFGQRDRSSSAPNV InFrameInsertion 8/18 - 1
7-140494148-G-A c.1100C>T p.P367L Missense 8/18 - 2
7-140494148-G-C c.1100C>G p.P367R Missense 8/18 - 3
7-140494149-G-A c.1099C>T p.P367S Missense 8/18 - 3
7-140494151-G-GC c.1096dup p.A366Gfs*15 Frameshift 8/18 - 1
7-140494152-C-G c.1096G>C p.A366P Missense 8/18 - 1
7-140494154-G-A c.1094C>T p.S365L Missense 8/18 - 6
7-140494154-G-T c.1094C>A p.S365* Nonsense 8/18 - 1
7-140494154-G-C c.1094C>G p.S365* Nonsense 8/18 - 1
7-140494155-A-C c.1093T>G p.S365A Missense 8/18 - 12
7-140494157-G-A c.1091C>T p.S364L Missense 8/18 - 1
7-140494160-G-A c.1088C>T p.S363F Missense 8/18 - 1
7-140494163-C-G c.1085G>C p.R362P Missense 8/18 - 1
7-140494163-C-T c.1085G>A p.R362Q Missense 8/18 - 1
7-140494164-G-A c.1084C>T p.R362* Nonsense 8/18 - 3
7-140494168-TCG-ACA c.1078_1080delinsTGT p.R360C Missense 8/18 - 1
7-140494169-C-T c.1079G>A p.R360Q Missense 8/18 - 1
7-140494175-C-G c.1073G>C p.G358A Missense 8/18 - 1
7-140494175-C-T c.1073G>A p.G358E Missense 8/18 - 1
7-140494187-C-T c.1061G>A p.R354Q Missense 8/18 - 6
7-140494188-G-A c.1060C>T p.R354* Nonsense 8/18 - 2
7-140494192-GATC-G c.1054_1056del p.D352del InFrameDeletion 8/18 - 1
7-140494199-T-G c.1049A>C p.D350A Missense 8/18 - 1
7-140494200-C-A c.1048G>T p.D350Y Missense 8/18 - 1
7-140494202-G-A c.1046C>T p.A349V Missense 8/18 - 2
7-140494207-TC-AT c.1040_1041delinsAT p.R347H Missense 8/18 - 1
7-140494208-C-T c.1040G>A p.R347Q Missense 8/18 - 2
7-140494209-G-A c.1039C>T p.R347* Nonsense 8/18 - 5
7-140494212-A-C c.1036T>G p.F346V Missense 8/18 - 1
7-140494212-A-G c.1036T>C p.F346L Missense 8/18 - 2
7-140494217-T-A c.1031A>T p.Q344L Missense 8/18 - 1
7-140494218-G-A c.1030C>T p.Q344* Nonsense 8/18 - 1
7-140494234-T-G c.1014A>C p.K338N Missense 8/18 - 1
7-140494236-T-C c.1012A>G p.K338E Missense 8/18 - 1
7-140494238-G-T c.1010C>A p.S337* Nonsense 8/18 - 1
7-140494241-G-A c.1007C>T p.P336L Missense 8/18 - 1
7-140494244-G-T c.1004C>A p.S335Y Missense 8/18 - 1
7-140494245-A-C c.1003T>G p.S335A Missense 8/18 - 1
7-140494247-G-A c.1001C>T p.P334L Missense 8/18 - 1
7-140494248-G-A c.1000C>T p.P334S Missense 8/18 - 1
7-140494248-G-C c.1000C>G p.P334A Missense 8/18 - 1
7-140494250-CT-AA c.997_998delinsTT p.S333F Missense 8/18 - 1
7-140494257-G-A c.991C>T p.L331F Missense 8/18 - 2
7-140494266-G-A c.982C>T p.P328S Missense 8/18 - 1
7-140495435-G-A c.981-1168C>T - IntronicSNV - 7/17 1
7-140495435-G-T c.981-1168C>A - IntronicSNV - 7/17 1
7-140495573-T-A c.981-1306A>T - IntronicSNV - 7/17 1
7-140495573-T-C c.981-1306A>G - IntronicSNV - 7/17 1
7-140495573-T-G c.981-1306A>C - IntronicSNV - 7/17 1
7-140495576-T-C c.981-1309A>G - IntronicSNV - 7/17 1
7-140496203-A-G c.981-1936T>C - IntronicSNV - 7/17 1
7-140496563-T-C c.981-2296A>G - IntronicSNV - 7/17 1
7-140496823-C-A c.981-2556G>T - IntronicSNV - 7/17 1
7-140497707-A-G c.980+2455T>C - IntronicSNV - 7/17 1
7-140499107-C-T c.980+1055G>A - IntronicSNV - 7/17 2
7-140500165-A-G c.977T>C p.I326T Missense 7/18 - 2
7-140500166-T-C c.976A>G p.I326V Missense 7/18 - 6
7-140500168-G-C c.974C>G p.S325C Missense 7/18 - 1
7-140500174-G-A c.968C>T p.S323L Missense 7/18 - 1
7-140500174-GA-TC c.967_968inv p.S323E Missense 7/18 - 1
7-140500175-A-G c.967T>C p.S323P Missense 7/18 - 1
7-140500175-A-C c.967T>G p.S323A Missense 7/18 - 2
7-140500178-C-T c.964G>A p.A322T Missense 7/18 - 1
7-140500179-G-A c.963C>T p.P321= Synonymous 7/18 - 2
7-140500179-G-C c.963C>G p.P321= Synonymous 7/18 - 1
7-140500179-G-T c.963C>A p.P321= Synonymous 7/18 - 1
7-140500180-G-A c.962C>T p.P321L Missense 7/18 - 2
7-140500180-GG-AA c.961_962delinsTT p.P321F Missense 7/18 - 1
7-140500181-G-A c.961C>T p.P321S Missense 7/18 - 1
7-140500182-T-G c.960A>C p.A320= Synonymous 7/18 - 1
7-140500182-T-C c.960A>G p.A320= Synonymous 7/18 - 1
7-140500182-T-A c.960A>T p.A320= Synonymous 7/18 - 1
7-140500183-G-A c.959C>T p.A320V Missense 7/18 - 1
7-140500184-C-T c.958G>A p.A320T Missense 7/18 - 1
7-140500185-G-A c.957C>T p.S319= Synonymous 7/18 - 1
7-140500185-G-C c.957C>G p.S319= Synonymous 7/18 - 1
7-140500185-G-T c.957C>A p.S319= Synonymous 7/18 - 1
7-140500187-A-C c.955T>G p.S319A Missense 7/18 - 1
7-140500189-GG-AA c.952_953delinsTT p.P318F Missense 7/18 - 1
7-140500190-G-C c.952C>G p.P318A Missense 7/18 - 1
7-140500190-G-A c.952C>T p.P318S Missense 7/18 - 1
7-140500192-G-C c.950C>G p.S317C Missense 7/18 - 1
7-140500192-G-A c.950C>T p.S317F Missense 7/18 - 1
7-140500195-G-C c.947C>G p.S316* Nonsense 7/18 - 1
7-140500195-G-T c.947C>A p.S316* Nonsense 7/18 - 1
7-140500195-G-A c.947C>T p.S316L Missense 7/18 - 1
7-140500196-A-C c.946T>G p.S316A Missense 7/18 - 1
7-140500197-TCC-GCT c.943_945delinsAGC p.G315S Missense 7/18 - 2
7-140500200-AGA-TTG c.940_942delinsCAA p.S314Q Missense 7/18 - 1
7-140500201-G-A c.941C>T p.S314F Missense 7/18 - 2
7-140500199-CAGATGTTAGGGCAGTCTCTGCTAAGGACGCCTCTTCCTGTGGTATTGGGTGGTGTTCAA-C c.884_942del p.F295Wfs*37 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 7/18 - 1
7-140500213-G-A c.929C>T p.T310I Missense 7/18 - 3
7-140500215-C-G c.927G>C p.E309D Missense 7/18 - 1
7-140500215-C-A c.927G>T p.E309D Missense 7/18 - 1
7-140500220-C-A c.922G>T p.A308S Missense 7/18 - 1
7-140500220-C-T c.922G>A p.A308T Missense 7/18 - 2
7-140500229-C-A c.913G>T p.A305S Missense 7/18 - 1
7-140500232-C-T c.910G>A p.E304K Missense 7/18 - 2
7-140500235-C-T c.907G>A p.E303K Missense 7/18 - 1
7-140500238-G-A c.904C>T p.Q302* Nonsense 7/18 - 1
7-140500240-G-A c.902C>T p.P301L Missense 7/18 - 3
7-140500241-G-A c.901C>T p.P301S Missense 7/18 - 2
7-140500241-G-C c.901C>G p.P301A Missense 7/18 - 1
7-140500244-T-C c.898A>G p.I300V Missense 7/18 - 1
7-140500247-G-T c.895C>A p.P299T Missense 7/18 - 1
7-140500250-G-A c.892C>T p.H298Y Missense 7/18 - 1
7-140500254-T-G c.888A>C p.E296D Missense 7/18 - 1
7-140500254-T-A c.888A>T p.E296D Missense 7/18 - 1
7-140500256-C-T c.886G>A p.E296K Missense 7/18 - 3
7-140500258-A-G c.884T>C p.F295S Missense 7/18 - 1
7-140500262-A-G c.880T>C p.F294L Missense 7/18 - 1
7-140500260-G-T c.882C>A p.F294L Missense 7/18 - 1
7-140500260-G-C c.882C>G p.F294L Missense 7/18 - 1
7-140500266-GG-TT c.875_876delinsAA p.S292* Nonsense 7/18 - 1
7-140500276-AG-GC c.865_866delinsGC p.L289A Missense 7/18 - 1
7-140500280-A-G c.862T>C p.L288= Synonymous 7/18 - 1
7-140500278-C-T c.864G>A p.L288= Synonymous 7/18 - 1
7-140500451-T-A c.861-170A>T - IntronicSNV - 6/17 1
7-140501212-T-A c.860A>T p.D287V Missense 6/18 - 1
7-140501213-C-G c.859G>C p.D287H Missense 6/18 - 8
7-140501216-G-C c.856C>G p.L286V Missense 6/18 - 1
7-140501219-G-A c.853C>T p.Q285* Nonsense 6/18 - 1
7-140501222-C-G c.850G>C p.D284H Missense 6/18 - 1
7-140501227-TT-GC c.844_845delinsGC p.N282A Missense 6/18 - 1
7-140501229-AA-CT c.842_843delinsAG p.V281E Missense 6/18 - 1
7-140501231-C-A c.841G>T p.V281F Missense 6/18 - 1
7-140501236-AT-GC c.835_836delinsGC p.M279A Missense 6/18 - 1
7-140501236-A-C c.836T>G p.M279R Missense 6/18 - 1
7-140501241-TG-T c.830del p.P277Hfs*2 Frameshift 6/18 - 1
7-140501243-G-C c.829C>G p.P277A Missense 6/18 - 1
7-140501243-G-A c.829C>T p.P277S Missense 6/18 - 1
7-140501249-C-T c.823G>A p.E275K Missense 6/18 - 4
7-140501254-C-A c.818G>T p.S273I Missense 6/18 - 1
7-140501254-C-T c.818G>A p.S273N Missense 6/18 - 2
7-140501255-T-C c.817A>G p.S273G Missense 6/18 - 1
7-140501258-A-C c.814T>G p.C272G Missense 6/18 - 2
7-140501260-CG-AA c.811_812delinsTT p.R271F Missense 6/18 - 1
7-140501260-C-T c.812G>A p.R271H Missense 6/18 - 1
7-140501261-G-A c.811C>T p.R271C Missense 6/18 - 2
7-140501261-G-T c.811C>A p.R271S Missense 6/18 - 1
7-140501267-G-A c.805C>T p.H269Y Missense 6/18 - 1
7-140501270-AT-A c.801del p.K267Nfs*12 Frameshift 6/18 - 1
7-140501284-G-A c.788C>T p.T263I Missense 6/18 - 1
7-140501285-T-G c.787A>C p.T263P Missense 6/18 - 1
7-140501287-T-C c.785A>G p.Q262R Missense 6/18 - 5
7-140501287-TG-GC c.784_785delinsGC p.Q262A Missense 6/18 - 1
7-140501288-G-T c.784C>A p.Q262K Missense 6/18 - 2
7-140501288-G-A c.784C>T p.Q262* Nonsense 6/18 - 1
7-140501293-C-T c.779G>A p.R260H Missense 6/18 - 1
7-140501294-G-A c.778C>T p.R260C Missense 6/18 - 2
7-140501299-C-A c.773G>T p.G258V Missense 6/18 - 1
7-140501301-C-A c.771G>T p.Q257H Missense 6/18 - 2
7-140501301-C-G c.771G>C p.Q257H Missense 6/18 - 2
7-140501302-T-C c.770A>G p.Q257R Missense 6/18 - 59
7-140501303-G-T c.769C>A p.Q257K Missense 6/18 - 2
7-140501303-G-A c.769C>T p.Q257* Nonsense 6/18 - 1
7-140501307-A-C c.765T>G p.L255= Synonymous 6/18 - 1
7-140501307-A-T c.765T>A p.L255= Synonymous 6/18 - 1
7-140501307-A-G c.765T>C p.L255= Synonymous 6/18 - 1
7-140501309-G-T c.763C>A p.L255I Missense 6/18 - 2
7-140501309-G-A c.763C>T p.L255F Missense 6/18 - 1
7-140501311-A-T c.761T>A p.L254Q Missense 6/18 - 1
7-140501313-C-G c.759G>C p.K253N Missense 6/18 - 1
7-140501313-C-A c.759G>T p.K253N Missense 6/18 - 1
7-140501314-T-C c.758A>G p.K253R Missense 6/18 - 1
7-140501315-T-C c.757A>G p.K253E Missense 6/18 - 1
7-140501316-TCG-ACA c.754_756delinsTGT p.R252C Missense 6/18 - 1
7-140501317-C-G c.755G>C p.R252P Missense 6/18 - 1
7-140501317-C-T c.755G>A p.R252Q Missense 6/18 - 2
7-140501320-CA-GT c.751_752delinsAC p.C251T Missense 6/18 - 1
7-140501321-A-C c.751T>G p.C251G Missense 6/18 - 1
7-140501327-C-T c.745G>A p.D249N Missense 6/18 - 1
7-140501331-AAA-CTT c.739_741delinsAAG p.F247K Missense 6/18 - 1
7-140501332-A-C c.740T>G p.F247C Missense 6/18 - 2
7-140501332-A-G c.740T>C p.F247S Missense 6/18 - 1
7-140501333-A-G c.739T>C p.F247L Missense 6/18 - 3
7-140501331-A-T c.741T>A p.F247L Missense 6/18 - 3
7-140501331-A-C c.741T>G p.F247L Missense 6/18 - 6
7-140501333-A-C c.739T>G p.F247V Missense 6/18 - 1
7-140501335-G-A c.737C>T p.A246V Missense 6/18 - 1
7-140501336-C-G c.736G>C p.A246P Missense 6/18 - 14
7-140501337-T-A c.735A>T p.L245F Missense 6/18 - 15
7-140501337-T-G c.735A>C p.L245F Missense 6/18 - 8
7-140501341-G-A c.731C>T p.T244I Missense 6/18 - 1
7-140501342-T-C c.730A>G p.T244A Missense 6/18 - 1
7-140501342-T-G c.730A>C p.T244P Missense 6/18 - 2
7-140501343-GA-G c.728del p.F243Sfs*3 Frameshift 6/18 - 1
7-140501350-G-A c.722C>T p.T241M Missense 6/18 - 14
7-140501350-G-C c.722C>G p.T241R Missense 6/18 - 7
7-140501351-T-G c.721A>C p.T241P Missense 6/18 - 15
7-140501357-G-A c.715C>T p.R239* Nonsense 6/18 - 2
7-140505024-GT-G c.711+2735del - IntronicDeletion - 5/17 1
7-140505853-C-G c.711+1907G>C - IntronicSNV - 5/17 1
7-140507763-G-C c.708C>G p.N236K Missense 5/18 - 1
7-140507763-G-T c.708C>A p.N236K Missense 5/18 - 1
7-140507765-T-A c.706A>T p.N236Y Missense 5/18 - 1
7-140507773-G-A c.698C>T p.T233I Missense 5/18 - 1
7-140507776-A-T c.695T>A p.L232H Missense 5/18 - 1
7-140507777-G-A c.694C>T p.L232F Missense 5/18 - 1
7-140507788-T-A c.683A>T p.E228V Missense 5/18 - 2
7-140507793-C-T c.678G>A p.V226= Synonymous 5/18 - 1
7-140507793-C-G c.678G>C p.V226= Synonymous 5/18 - 1
7-140507793-C-A c.678G>T p.V226= Synonymous 5/18 - 1
7-140507793-CAC-GAT c.676_678delinsATC p.V226I Missense 5/18 - 1
7-140507795-C-G c.676G>C p.V226L Missense 5/18 - 1
7-140507795-C-A c.676G>T p.V226L Missense 5/18 - 1
7-140507795-C-T c.676G>A p.V226M Missense 5/18 - 1
7-140507801-C-G c.670G>C p.V224L Missense 5/18 - 1
7-140507801-C-A c.670G>T p.V224L Missense 5/18 - 1
7-140507803-T-G c.668A>C p.H223P Missense 5/18 - 1
7-140507803-T-A c.668A>T p.H223L Missense 5/18 - 1
7-140507813-C-T c.658G>A p.E220K Missense 5/18 - 1
7-140507815-C-G c.656G>C p.G219A Missense 5/18 - 2
7-140507816-C-T c.655G>A p.G219R Missense 5/18 - 2
7-140507818-G-C c.653C>G p.T218S Missense 5/18 - 1
7-140507819-T-A c.652A>T p.T218S Missense 5/18 - 1
7-140507820-A-C c.651T>G p.L217= Synonymous 5/18 - 1
7-140507820-A-T c.651T>A p.L217= Synonymous 5/18 - 1
7-140507820-A-G c.651T>C p.L217= Synonymous 5/18 - 1
7-140507827-GA-CG c.643_644delinsCG p.S215R Missense 5/18 - 2
7-140507827-GA-TT c.643_644delinsAA p.S215N Missense 5/18 - 1
7-140507827-GA-AT c.643_644delinsAT p.S215I Missense 5/18 - 1
7-140507839-T-C c.632A>G p.D211G Missense 5/18 - 6
7-140507840-C-G c.631G>C p.D211H Missense 5/18 - 1
7-140507844-ACC-CAT c.625_627delinsATG p.G209M Missense 5/18 - 1
7-140507845-CC-GT c.625_626delinsAC p.G209T Missense 5/18 - 1
7-140507847-A-C c.624T>G p.I208M Missense 5/18 - 1
7-140507849-T-C c.622A>G p.I208V Missense 5/18 - 2
7-140507851-G-A c.620C>T p.P207L Missense 5/18 - 1
7-140507852-G-A c.619C>T p.P207S Missense 5/18 - 1
7-140507853-T-G c.618A>C p.K206N Missense 5/18 - 1
7-140507853-T-A c.618A>T p.K206N Missense 5/18 - 1
7-140507854-TT-GC c.616_617delinsGC p.K206A Missense 5/18 - 1
7-140507854-T-G c.617A>C p.K206T Missense 5/18 - 1
7-140507855-T-G c.616A>C p.K206Q Missense 5/18 - 1
7-140507856-C-A c.615G>T p.K205N Missense 5/18 - 1
7-140507858-T-G c.613A>C p.K205Q Missense 5/18 - 1
7-140507861-C-A c.610G>T p.E204* Nonsense 5/18 - 2
7-140508692-C-G c.608G>C p.G203A Missense 4/18 - 1
7-140508694-A-C c.606T>G p.D202E Missense 4/18 - 1
7-140508694-A-T c.606T>A p.D202E Missense 4/18 - 1
7-140508695-T-C c.605A>G p.D202G Missense 4/18 - 2
7-140508696-C-G c.604G>C p.D202H Missense 4/18 - 1
7-140508696-C-T c.604G>A p.D202N Missense 4/18 - 1
7-140508697-C-A c.603G>T p.Q201H Missense 4/18 - 1
7-140508697-C-G c.603G>C p.Q201H Missense 4/18 - 1
7-140508699-G-A c.601C>T p.Q201* Nonsense 4/18 - 1
7-140508699-G-T c.601C>A p.Q201K Missense 4/18 - 1
7-140508700-A-C c.600T>G p.I200M Missense 4/18 - 1
7-140508701-A-G c.599T>C p.I200T Missense 4/18 - 2
7-140508704-C-T c.596G>A p.R199K Missense 4/18 - 1
7-140508705-T-C c.595A>G p.R199G Missense 4/18 - 1
7-140508711-C-T c.589G>A p.V197I Missense 4/18 - 1
7-140508713-G-A c.587C>T p.A196V Missense 4/18 - 1
7-140508714-C-T c.586G>A p.A196T Missense 4/18 - 1
7-140508719-CA-GT c.580_581delinsAC p.C194T Missense 4/18 - 1
7-140508725-G-T c.575C>A p.P192Q Missense 4/18 - 1
7-140508726-G-A c.574C>T p.P192S Missense 4/18 - 1
7-140508735-C-G c.565G>C p.G189R Missense 4/18 - 1
7-140508736-TCT-ATG c.562_564delinsCAT p.R188H Missense 4/18 - 1
7-140508737-CT-AG c.562_563inv p.R188L Missense 4/18 - 15
7-140508737-CT-GC c.562_563delinsGC p.R188A Missense 4/18 - 1
7-140508738-T-C c.562A>G p.R188G Missense 4/18 - 1
7-140508743-AT-CA c.556_557delinsTG p.M186W Missense 4/18 - 1
7-140508743-A-T c.557T>A p.M186K Missense 4/18 - 1
7-140508743-AT-TC c.556_557delinsGA p.M186E Missense 4/18 - 1
7-140508743-AT-GC c.556_557delinsGC p.M186A Missense 4/18 - 1
7-140508749-G-A c.551C>T p.A184V Missense 4/18 - 1
7-140508752-T-C c.548A>G p.K183R Missense 4/18 - 1
7-140508753-T-C c.547A>G p.K183E Missense 4/18 - 2
7-140508766-TCG-ACA c.532_534delinsTGT p.R178C Missense 4/18 - 1
7-140508767-CG-GC c.532_533delinsGC p.R178A Missense 4/18 - 1
7-140508767-C-T c.533G>A p.R178Q Missense 4/18 - 2
7-140508768-G-A c.532C>T p.R178* Nonsense 4/18 - 2
7-140508771-C-T c.529G>A p.V177I Missense 4/18 - 1
7-140508772-TGT-ACA c.526_528inv p.T176C Missense 4/18 - 1
7-140508773-G-A c.527C>T p.T176I Missense 4/18 - 1
7-140508774-T-C c.526A>G p.T176A Missense 4/18 - 2
7-140508778-TCC-GCT c.520_522delinsAGC p.G174S Missense 4/18 - 1
7-140508778-TCC-ACA c.520_522delinsTGT p.G174C Missense 4/18 - 1
7-140508784-CCT-ATG c.514_516delinsCAT p.R172H Missense 4/18 - 91
7-140508785-CT-GG c.514_515delinsCC p.R172P Missense 4/18 - 3
7-140508785-C-T c.515G>A p.R172K Missense 4/18 - 4
7-140508785-C-A c.515G>T p.R172M Missense 4/18 - 1
7-140508786-T-A c.514A>T p.R172W Missense 4/18 - 1
7-140508788-G-T c.512C>A p.A171E Missense 4/18 - 1
7-140508789-C-T c.511G>A p.A171T Missense 4/18 - 1
7-140508789-C-CA c.510dup p.A171Cfs*43 Frameshift 4/18 - 1
7-140508795-C-T c.505G>A p.V169I Missense 4/18 - 1
7-140509287-C-G c.505-492G>C - IntronicSNV - 3/17 1
7-140522073-A-G c.504+12336T>C - IntronicSNV - 3/17 1
7-140525719-G-A c.504+8690C>T - IntronicSNV - 3/17 1
7-140525883-C-G c.504+8526G>C - IntronicSNV - 3/17 1
7-140525883-C-T c.504+8526G>A - IntronicSNV - 3/17 1
7-140528317-A-G c.504+6092T>C - IntronicSNV - 3/17 2
7-140528317-A-T c.504+6092T>A - IntronicSNV - 3/17 2
7-140534407-A-G c.504+2T>C - IntronicSNV - 3/17 1
7-140534411-C-CT c.501dup p.V168Sfs*46 Frameshift 3/18 - 1
7-140534414-T-C c.499A>G p.T167A Missense 3/18 - 1
7-140534416-CT-GC c.496_497delinsGC p.R166A Missense 3/18 - 2
7-140534417-T-C c.496A>G p.R166G Missense 3/18 - 1
7-140534422-T-C c.491A>G p.K164R Missense 3/18 - 1
7-140534425-T-C c.488A>G p.N163S Missense 3/18 - 1
7-140534439-TCT-ATG c.472_474delinsCAT p.R158H Missense 3/18 - 1
7-140534440-CT-AC c.472_473delinsGT p.R158V Missense 3/18 - 1
7-140534440-CT-GC c.472_473delinsGC p.R158A Missense 3/18 - 1
7-140534440-CT-AG c.472_473inv p.R158L Missense 3/18 - 1
7-140534440-C-T c.473G>A p.R158K Missense 3/18 - 1
7-140534442-AA-CT c.470_471delinsAG p.V157E Missense 3/18 - 1
7-140534444-C-T c.469G>A p.V157I Missense 3/18 - 2
7-140534444-C-A c.469G>T p.V157F Missense 3/18 - 2
7-140534446-A-G c.467T>C p.I156T Missense 3/18 - 1
7-140534450-G-A c.463C>T p.P155S Missense 3/18 - 1
7-140534455-T-C c.458A>G p.Q153R Missense 3/18 - 1
7-140534456-G-A c.457C>T p.Q153* Nonsense 3/18 - 2
7-140534459-G-A c.454C>T p.P152S Missense 3/18 - 2
7-140534460-TGA-GTC c.451_453delinsGAC p.S151D Missense 3/18 - 5
7-140534461-GA-TC c.451_452inv p.S151E Missense 3/18 - 1
7-140534462-A-C c.451T>G p.S151A Missense 3/18 - 2
7-140534464-T-G c.449A>C p.K150T Missense 3/18 - 1
7-140534468-G-A c.445C>T p.P149S Missense 3/18 - 1
7-140534473-C-T c.440G>A p.S147N Missense 3/18 - 1
7-140534474-T-C c.439A>G p.S147G Missense 3/18 - 1
7-140534475-CCG-ACA c.436_438delinsTGT p.R146C Missense 3/18 - 1
7-140534475-CC-AT c.437_438delinsAT p.R146H Missense 3/18 - 1
7-140534475-CCG-GCT c.436_438delinsAGC p.R146S Missense 3/18 - 1
7-140534476-C-A c.437G>T p.R146L Missense 3/18 - 3
7-140534476-CG-TA c.436_437delinsTA p.R146* Nonsense 3/18 - 1
7-140534476-C-T c.437G>A p.R146Q Missense 3/18 - 2
7-140534477-G-A c.436C>T p.R146W Missense 3/18 - 2
7-140534483-C-A c.430G>T p.V144L Missense 3/18 - 1
7-140534484-A-C c.429T>G p.D143E Missense 3/18 - 1
7-140534484-A-T c.429T>A p.D143E Missense 3/18 - 1
7-140534485-T-C c.428A>G p.D143G Missense 3/18 - 1
7-140534486-C-G c.427G>C p.D143H Missense 3/18 - 1
7-140534486-C-T c.427G>A p.D143N Missense 3/18 - 2
7-140534490-G-A c.423C>T p.P141= Synonymous 3/18 - 1
7-140534490-G-T c.423C>A p.P141= Synonymous 3/18 - 1
7-140534490-G-C c.423C>G p.P141= Synonymous 3/18 - 1
7-140534491-G-A c.422C>T p.P141L Missense 3/18 - 1
7-140534494-T-G c.419A>C p.N140T Missense 3/18 - 1
7-140534498-G-A c.415C>T p.Q139* Nonsense 3/18 - 1
7-140534502-A-T c.411T>A p.V137= Synonymous 3/18 - 1
7-140534502-A-G c.411T>C p.V137= Synonymous 3/18 - 1
7-140534502-A-C c.411T>G p.V137= Synonymous 3/18 - 1
7-140534503-A-C c.410T>G p.V137G Missense 3/18 - 1
7-140534506-G-A c.407C>T p.S136L Missense 3/18 - 1
7-140534506-GA-TC c.406_407inv p.S136E Missense 3/18 - 1
7-140534507-A-AG c.405_406insC p.S136Lfs*23 Frameshift 3/18 - 1
7-140534507-A-C c.406T>G p.S136A Missense 3/18 - 2
7-140534508-A-C c.405T>G p.L135= Synonymous 3/18 - 2
7-140534508-A-T c.405T>A p.L135= Synonymous 3/18 - 2
7-140534508-A-G c.405T>C p.L135= Synonymous 3/18 - 2
7-140534510-G-A c.403C>T p.L135F Missense 3/18 - 1
7-140534510-G-C c.403C>G p.L135V Missense 3/18 - 2
7-140534512-GA-TC c.400_401inv p.S134D Missense 3/18 - 1
7-140534515-G-A c.398C>T p.S133L Missense 3/18 - 1
7-140534516-A-C c.397T>G p.S133A Missense 3/18 - 1
7-140534517-AGG-CTC c.394_396delinsGAG p.P132E Missense 3/18 - 1
7-140534518-G-T c.395C>A p.P132H Missense 3/18 - 1
7-140534521-A-G c.392T>C p.L131P Missense 3/18 - 1
7-140534523-GCACTGAAAGGCT-G c.379_390del p.S127_V130del InFrameDeletion 3/18 - 1
7-140534522-G-GCTTC c.390_391insGAAG p.L131Efs*29 Frameshift 3/18 - 1
7-140534527-G-A c.386C>T p.S129L Missense 3/18 - 2
7-140534528-A-C c.385T>G p.S129A Missense 3/18 - 1
7-140534533-CT-GC c.379_380delinsGC p.S127A Missense 3/18 - 5
7-140534533-CT-GG c.379_380delinsCC p.S127P Missense 3/18 - 1
7-140534533-CT-AG c.379_380inv p.S127L Missense 3/18 - 1
7-140534534-T-C c.379A>G p.S127G Missense 3/18 - 1
7-140534536-GA-AG c.376_377delinsCT p.S126L Missense 3/18 - 1
7-140534537-A-T c.376T>A p.S126T Missense 3/18 - 1
7-140534538-A-C c.375T>G p.S125= Synonymous 3/18 - 1
7-140534539-GA-CC c.373_374delinsGG p.S125G Missense 3/18 - 1
7-140534539-GA-AG c.373_374delinsCT p.S125L Missense 3/18 - 4
7-140534542-G-A c.371C>T p.S124F Missense 3/18 - 3
7-140534542-GA-TC c.370_371inv p.S124D Missense 3/18 - 1
7-140534542-G-C c.371C>G p.S124C Missense 3/18 - 1
7-140534542-GA-TT c.370_371delinsAA p.S124N Missense 3/18 - 1
7-140534543-A-C c.370T>G p.S124A Missense 3/18 - 1
7-140534548-G-A c.365C>T p.S122F Missense 3/18 - 1
7-140534551-G-A c.362C>T p.T121I Missense 3/18 - 1
7-140534551-G-T c.362C>A p.T121K Missense 3/18 - 1
7-140534554-A-G c.359T>C p.V120A Missense 3/18 - 1
7-140534555-C-G c.358G>C p.V120L Missense 3/18 - 1
7-140534555-C-T c.358G>A p.V120I Missense 3/18 - 3
7-140534555-C-A c.358G>T p.V120F Missense 3/18 - 1
7-140534558-T-A c.355A>T p.T119S Missense 3/18 - 6
7-140534557-G-C c.356C>G p.T119S Missense 3/18 - 6
7-140534559-A-G c.354T>C p.D118= Synonymous 3/18 - 1
7-140534561-C-G c.352G>C p.D118H Missense 3/18 - 1
7-140534562-C-G c.351G>C p.M117I Missense 3/18 - 1
7-140534563-CATTGA-C c.346_350del p.S116Gfs*10 Frameshift 3/18 - 1
7-140534568-T-G c.345A>C p.A115= Synonymous 3/18 - 1
7-140534568-T-C c.345A>G p.A115= Synonymous 3/18 - 1
7-140534568-T-A c.345A>T p.A115= Synonymous 3/18 - 1
7-140534570-C-T c.343G>A p.A115T Missense 3/18 - 1
7-140534574-GCT-CTC c.337_339delinsGAG p.S113E Missense 3/18 - 1
7-140534574-G-GCGA c.338_339insTCG p.S113_S114insR InFrameInsertion 3/18 - 1
7-140534575-C-T c.338G>A p.S113N Missense 3/18 - 2
7-140534575-C-A c.338G>T p.S113I Missense 3/18 - 1
7-140534577-AGA-CTC c.334_336delinsGAG p.S112E Missense 3/18 - 1
7-140534578-G-C c.335C>G p.S112C Missense 3/18 - 1
7-140534579-A-T c.334T>A p.S112T Missense 3/18 - 1
7-140534579-A-C c.334T>G p.S112A Missense 3/18 - 2
7-140534581-AC-CA c.331_332delinsTG p.V111C Missense 3/18 - 2
7-140534582-CAGA-C c.328_330del p.S110del InFrameDeletion 3/18 - 1
7-140534585-A-G c.328T>C p.S110P Missense 3/18 - 1
7-140534588-A-T c.325T>A p.F109I Missense 3/18 - 1
7-140534588-A-C c.325T>G p.F109V Missense 3/18 - 1
7-140534590-T-C c.323A>G p.D108G Missense 3/18 - 1
7-140534591-C-T c.322G>A p.D108N Missense 3/18 - 1
7-140534593-AG-A c.320del p.T107Mfs*75 Frameshift 3/18 - 1
7-140534595-TCC-GCT c.316_318delinsAGC p.G106S Missense 3/18 - 1
7-140534596-C-A c.317G>T p.G106V Missense 3/18 - 1
7-140534597-C-A c.316G>T p.G106* Nonsense 3/18 - 1
7-140534597-C-T c.316G>A p.G106R Missense 3/18 - 2
7-140534598-G-A c.315C>T p.N105= Synonymous 3/18 - 1
7-140534599-T-C c.314A>G p.N105S Missense 3/18 - 1
7-140534600-T-A c.313A>T p.N105Y Missense 3/18 - 1
7-140534601-CCC-GCT c.310_312delinsAGC p.G104S Missense 3/18 - 1
7-140534603-C-A c.310G>T p.G104W Missense 3/18 - 1
7-140534603-C-T c.310G>A p.G104R Missense 3/18 - 1
7-140534603-C-G c.310G>C p.G104R Missense 3/18 - 1
7-140534605-A-T c.308T>A p.L103Q Missense 3/18 - 1
7-140534612-C-A c.301G>T p.E101* Nonsense 3/18 - 2
7-140534624-G-C c.289C>G p.Q97E Missense 3/18 - 1
7-140534625-T-TCCAAG c.287_288insCTTGG p.E96Dfs*88 Frameshift 3/18 - 1
7-140534626-T-G c.287A>C p.E96A Missense 3/18 - 1
7-140534628-TCT-CCA c.283_285delinsTGG p.R95W Missense 3/18 - 1
7-140534630-T-C c.283A>G p.R95G Missense 3/18 - 1
7-140534633-TGTTGG-T c.276_280del p.Q93Kfs*14 Frameshift 3/18 - 1
7-140534634-T-G c.279A>C p.Q93H Missense 3/18 - 1
7-140534639-G-A c.274C>T p.L92F Missense 3/18 - 1
7-140534640-TGC-ACA c.271_273delinsTGT p.A91C Missense 3/18 - 2
7-140534640-TG-GT c.272_273delinsAC p.A91D Missense 3/18 - 1
7-140534640-TGC-GTT c.271_273delinsAAC p.A91N Missense 3/18 - 1
7-140534640-TGC-CCA c.271_273delinsTGG p.A91W Missense 3/18 - 1
7-140534640-TGC-ATA c.271_273delinsTAT p.A91Y Missense 3/18 - 1
7-140534640-TGC-AAA c.271_273delinsTTT p.A91F Missense 3/18 - 1
7-140534641-G-T c.272C>A p.A91E Missense 3/18 - 3
7-140534641-GC-TT c.271_272delinsAA p.A91K Missense 3/18 - 1
7-140534641-GC-TG c.271_272delinsCA p.A91Q Missense 3/18 - 1
7-140534641-G-A c.272C>T p.A91V Missense 3/18 - 2
7-140534642-C-A c.271G>T p.A91S Missense 3/18 - 2
7-140534644-T-G c.269A>C p.D90A Missense 3/18 - 2
7-140534646-TAG-AAA c.265_267delinsTTT p.L89F Missense 3/18 - 1
7-140534651-T-C c.262A>G p.K88E Missense 3/18 - 1
7-140534655-GG-CA c.257_258delinsTG p.T86M Missense 3/18 - 1
7-140534659-T-C c.254A>G p.Y85C Missense 3/18 - 1
7-140534661-T-C c.252A>G p.E84= Synonymous 3/18 - 1
7-140534661-TTC-ACA c.250_252delinsTGT p.E84C Missense 3/18 - 2
7-140534664-TTC-ACA c.247_249delinsTGT p.E83C Missense 3/18 - 1
7-140534664-TTC-AAA c.247_249delinsTTT p.E83F Missense 3/18 - 1
7-140534668-T-C c.245A>G p.Y82C Missense 3/18 - 1
7-140534669-A-G c.244T>C p.Y82H Missense 3/18 - 1
7-140534670-GG-CT c.242_243delinsAG p.A81E Missense 3/18 - 2
7-140534670-G-T c.243C>A p.A81= Synonymous 3/18 - 1
7-140534670-G-C c.243C>G p.A81= Synonymous 3/18 - 1
7-140534670-G-A c.243C>T p.A81= Synonymous 3/18 - 1
7-140534671-GC-CA c.241_242delinsTG p.A81C Missense 3/18 - 3
7-140535283-C-T c.241-611G>A - IntronicSNV - 2/17 1
7-140536739-A-C c.241-2067T>G - IntronicSNV - 2/17 1
7-140538991-T-C c.241-4319A>G - IntronicSNV - 2/17 1
7-140544165-T-C c.240+5746A>G - IntronicSNV - 2/17 2
7-140545965-C-T c.240+3946G>A - IntronicSNV - 2/17 1
7-140547786-A-C c.240+2125T>G - IntronicSNV - 2/17 1
7-140549911-CTC-AAA c.238_240delinsTTT p.E80F Missense 2/18 - 1
7-140549912-T-G c.239A>C p.E80A Missense 2/18 - 1
7-140549915-A-T c.236T>A p.L79Q Missense 2/18 - 1
7-140549922-T-C c.229A>G p.I77V Missense 2/18 - 1
7-140549924-G-T c.227C>A p.S76* Nonsense 2/18 - 1
7-140549924-G-C c.227C>G p.S76* Nonsense 2/18 - 1
7-140549925-A-C c.226T>G p.S76A Missense 2/18 - 1
7-140549925-A-G c.226T>C p.S76P Missense 2/18 - 1
7-140549927-G-A c.224C>T p.P75L Missense 2/18 - 1
7-140549927-G-T c.224C>A p.P75Q Missense 2/18 - 1
7-140549928-G-A c.223C>T p.P75S Missense 2/18 - 2
7-140549930-G-A c.221C>T p.P74L Missense 2/18 - 1
7-140549931-G-C c.220C>G p.P74A Missense 2/18 - 1
7-140549938-C-G c.213G>C p.E71D Missense 2/18 - 1
7-140549938-C-A c.213G>T p.E71D Missense 2/18 - 1
7-140549940-C-T c.211G>A p.E71K Missense 2/18 - 1
7-140549945-C-G c.206G>C p.G69A Missense 2/18 - 1
7-140549946-C-T c.205G>A p.G69S Missense 2/18 - 1
7-140549947-AA-TT c.203_204inv p.F68* Nonsense 2/18 - 1
7-140549953-G-C c.198C>G p.D66E Missense 2/18 - 2
7-140549953-G-T c.198C>A p.D66E Missense 2/18 - 2
7-140549957-AA-GG c.193_194delinsCC p.L65P Missense 2/18 - 1
7-140549960-A-G c.191T>C p.L64P Missense 2/18 - 1
7-140549961-G-A c.190C>T p.L64= Synonymous 2/18 - 1
7-140549961-G-T c.190C>A p.L64I Missense 2/18 - 1
7-140549962-GG-CT c.188_189delinsAG p.A63E Missense 2/18 - 1
7-140549963-GC-AA c.187_188delinsTT p.A63F Missense 2/18 - 1
7-140549963-G-T c.188C>A p.A63D Missense 2/18 - 1
7-140549965-CTC-ACA c.184_186delinsTGT p.E62C Missense 2/18 - 1
7-140549963-GCCT-G c.185_187del p.E62del InFrameDeletion 2/18 - 1
7-140549965-C-A c.186G>T p.E62D Missense 2/18 - 1
7-140549967-C-A c.184G>T p.E62* Nonsense 2/18 - 2
7-140549968-T-G c.183A>C p.I61= Synonymous 2/18 - 4
7-140549968-T-A c.183A>T p.I61= Synonymous 2/18 - 7
7-140549969-A-T c.182T>A p.I61K Missense 2/18 - 1
7-140549970-T-C c.181A>G p.I61V Missense 2/18 - 1
7-140549972-TG-GC c.178_179delinsGC p.H60A Missense 2/18 - 2
7-140549972-TG-CA c.178_179inv p.H60C Missense 2/18 - 1
7-140549975-TC-GT c.175_176delinsAC p.E59T Missense 2/18 - 1
7-140549976-C-T c.175G>A p.E59K Missense 2/18 - 1
7-140549978-T-A c.173A>T p.Q58L Missense 2/18 - 2
7-140549978-T-G c.173A>C p.Q58P Missense 2/18 - 1
7-140549979-G-A c.172C>T p.Q58* Nonsense 2/18 - 1
7-140549981-G-A c.170C>T p.T57I Missense 2/18 - 1
7-140549982-T-C c.169A>G p.T57A Missense 2/18 - 1
7-140549982-T-G c.169A>C p.T57P Missense 2/18 - 1
7-140549986-CT-C c.164del p.K55Sfs*2 Frameshift 2/18 - 1
7-140549989-AA-CT c.161_162delinsAG p.I54K Missense 2/18 - 1
7-140549989-AAT-CTC c.160_162delinsGAG p.I54E Missense 2/18 - 1
7-140549989-AAT-TTG c.160_162delinsCAA p.I54Q Missense 2/18 - 1
7-140549990-AT-TG c.160_161delinsCA p.I54H Missense 2/18 - 1
7-140549990-AT-TC c.160_161delinsGA p.I54D Missense 2/18 - 1
7-140549990-AT-TA c.160_161delinsTA p.I54Y Missense 2/18 - 1
7-140549990-A-C c.161T>G p.I54S Missense 2/18 - 1
7-140549990-AT-CC c.160_161delinsGG p.I54G Missense 2/18 - 1
7-140549990-AT-GG c.160_161delinsCC p.I54P Missense 2/18 - 1
7-140549992-CAT-GTC c.157_159delinsGAC p.M53D Missense 2/18 - 1
7-140549992-C-G c.159G>C p.M53I Missense 2/18 - 1
7-140549997-G-A c.154C>T p.Q52* Nonsense 2/18 - 1
7-140549998-T-G c.153A>C p.K51N Missense 2/18 - 1
7-140549998-T-A c.153A>T p.K51N Missense 2/18 - 1
7-140549999-TT-GC c.151_152delinsGC p.K51A Missense 2/18 - 3
7-140550000-T-C c.151A>G p.K51E Missense 2/18 - 1
7-140550001-G-T c.150C>A p.I50= Synonymous 2/18 - 1
7-140550001-G-A c.150C>T p.I50= Synonymous 2/18 - 1
7-140550005-T-A c.146A>T p.N49I Missense 2/18 - 1
7-140550007-C-T c.144G>A p.W48* Nonsense 2/18 - 1
7-140550011-A-G c.140T>C p.V47A Missense 2/18 - 1
7-140550012-C-T c.139G>A p.V47M Missense 2/18 - 2
7-140550012-C-G c.139G>C p.V47L Missense 2/18 - 1
7-140550012-C-A c.139G>T p.V47L Missense 2/18 - 1
7-140556167-C-T c.139-6155G>A - IntronicSNV - 1/17 2
7-140556557-C-A c.139-6545G>T - IntronicSNV - 1/17 2
7-140558740-G-C c.139-8728C>G - IntronicSNV - 1/17 2
7-140560018-C-T c.139-10006G>A - IntronicSNV - 1/17 1
7-140560023-T-A c.139-10011A>T - IntronicSNV - 1/17 1
7-140560023-T-C c.139-10011A>G - IntronicSNV - 1/17 1
7-140576149-A-G c.139-26137T>C - IntronicSNV - 1/17 1
7-140588605-A-G c.138+35761T>C - IntronicSNV - 1/17 1
7-140592227-T-C c.138+32139A>G - IntronicSNV - 1/17 1
7-140592227-T-G c.138+32139A>C - IntronicSNV - 1/17 1
7-140595016-A-G c.138+29350T>C - IntronicSNV - 1/17 1
7-140601447-C-A c.138+22919G>T - IntronicSNV - 1/17 1
7-140608794-T-C c.138+15572A>G - IntronicSNV - 1/17 1
7-140610597-C-T c.138+13769G>A - IntronicSNV - 1/17 2
7-140612163-A-G c.138+12203T>C - IntronicSNV - 1/17 3
7-140612163-A-T c.138+12203T>A - IntronicSNV - 1/17 3
7-140614212-A-G c.138+10154T>C - IntronicSNV - 1/17 1
7-140614212-A-T c.138+10154T>A - IntronicSNV - 1/17 1
7-140614387-A-T c.138+9979T>A - IntronicSNV - 1/17 1
7-140614830-T-A c.138+9536A>T - IntronicSNV - 1/17 1
7-140614830-T-C c.138+9536A>G - IntronicSNV - 1/17 1
7-140624365-C-A c.138+1G>T - IntronicSNV - 1/17 1
7-140624366-CTC-AAA c.136_138delinsTTT p.E46F Missense 1/18 - 1
7-140624369-C-T c.135G>A p.E45= Synonymous 1/18 - 1
7-140624373-G-A c.131C>T p.P44L Missense 1/18 - 1
7-140624374-G-A c.130C>T p.P44S Missense 1/18 - 1
7-140624378-G-T c.126C>A p.A42= Synonymous 1/18 - 2
7-140624378-G-C c.126C>G p.A42= Synonymous 1/18 - 2
7-140624378-G-A c.126C>T p.A42= Synonymous 1/18 - 2
7-140624378-GGC-TTA c.124_126delinsTAA p.A42* Nonsense 1/18 - 1
7-140624378-GG-CT c.125_126delinsAG p.A42E Missense 1/18 - 1
7-140624378-GGC-CTT c.124_126delinsAAG p.A42K Missense 1/18 - 2
7-140624379-G-T c.125C>A p.A42D Missense 1/18 - 2
7-140624379-GC-CG c.124_125delinsCG p.A42R Missense 1/18 - 1
7-140624379-GC-AG c.124_125delinsCT p.A42L Missense 1/18 - 3
7-140624379-GC-TA c.124_125delinsTA p.A42Y Missense 1/18 - 1
7-140624379-GC-TG c.124_125delinsCA p.A42H Missense 1/18 - 1
7-140624379-GC-CA c.124_125delinsTG p.A42C Missense 1/18 - 1
7-140624380-C-A c.124G>T p.A42S Missense 1/18 - 2
7-140624385-TC-AA c.118_119delinsTT p.D40F Missense 1/18 - 1
7-140624385-T-G c.119A>C p.D40A Missense 1/18 - 1
7-140624387-CGC-ACA c.115_117delinsTGT p.A39C Missense 1/18 - 1
7-140624387-CGC-GTT c.115_117delinsAAC p.A39N Missense 1/18 - 1
7-140624387-CGC-GAT c.115_117delinsATC p.A39I Missense 1/18 - 1
7-140624387-C-T c.117G>A p.A39= Synonymous 1/18 - 1
7-140624387-C-G c.117G>C p.A39= Synonymous 1/18 - 1
7-140624387-C-A c.117G>T p.A39= Synonymous 1/18 - 1
7-140624387-CGC-AAA c.115_117delinsTTT p.A39F Missense 1/18 - 1
7-140624388-GC-TT c.115_116delinsAA p.A39K Missense 1/18 - 2
7-140624388-GC-AG c.115_116delinsCT p.A39L Missense 1/18 - 2
7-140624388-GC-AT c.115_116delinsAT p.A39M Missense 1/18 - 2
7-140624388-GC-CT c.115_116delinsAG p.A39R Missense 1/18 - 2
7-140624388-G-A c.116C>T p.A39V Missense 1/18 - 1
7-140624389-C-G c.115G>C p.A39P Missense 1/18 - 2
7-140624389-C-A c.115G>T p.A39S Missense 1/18 - 2
7-140624389-C-T c.115G>A p.A39T Missense 1/18 - 2
7-140624390-A-T c.114T>A p.A38= Synonymous 1/18 - 1
7-140624390-A-G c.114T>C p.A38= Synonymous 1/18 - 1
7-140624390-A-C c.114T>G p.A38= Synonymous 1/18 - 1
7-140624391-GC-AA c.112_113delinsTT p.A38F Missense 1/18 - 3
7-140624391-GC-CA c.112_113delinsTG p.A38C Missense 1/18 - 3
7-140624391-G-T c.113C>A p.A38D Missense 1/18 - 1
7-140624391-G-A c.113C>T p.A38V Missense 1/18 - 1
7-140624392-C-T c.112G>A p.A38T Missense 1/18 - 1
7-140624393-CG-AT c.110_111delinsAT p.S37Y Missense 1/18 - 2
7-140624393-CG-AC c.110_111delinsGT p.S37C Missense 1/18 - 3
7-140624393-CG-AA c.110_111delinsTT p.S37F Missense 1/18 - 3
7-140624394-G-A c.110C>T p.S37L Missense 1/18 - 1
7-140624394-G-T c.110C>A p.S37* Nonsense 1/18 - 1
7-140624394-GA-AC c.109_110delinsGT p.S37V Missense 1/18 - 1
7-140624395-A-C c.109T>G p.S37A Missense 1/18 - 6
7-140624395-A-G c.109T>C p.S37P Missense 1/18 - 1
7-140624397-G-A c.107C>T p.S36F Missense 1/18 - 1
7-140624399-GGC-CTT c.103_105delinsAAG p.A35K Missense 1/18 - 1
7-140624399-GG-CT c.104_105delinsAG p.A35E Missense 1/18 - 1
7-140624400-GC-AA c.103_104delinsTT p.A35F Missense 1/18 - 2
7-140624400-G-T c.104C>A p.A35D Missense 1/18 - 1
7-140624400-GC-CA c.103_104delinsTG p.A35C Missense 1/18 - 3
7-140624402-CG-GT c.101_102delinsAC p.A34D Missense 1/18 - 2
7-140624402-C-T c.102G>A p.A34= Synonymous 1/18 - 3
7-140624402-C-G c.102G>C p.A34= Synonymous 1/18 - 3
7-140624402-C-A c.102G>T p.A34= Synonymous 1/18 - 3
7-140624402-CGC-GAT c.100_102delinsATC p.A34I Missense 1/18 - 1
7-140624403-G-GCTGCAC c.100_101insGTGCAG p.G32_A33dup InFrameInsertion 1/18 - 1
7-140624404-C-T c.100G>A p.A34T Missense 1/18 - 1
7-140624405-G-T c.99C>A p.A33= Synonymous 1/18 - 1
7-140624405-G-C c.99C>G p.A33= Synonymous 1/18 - 1
7-140624405-G-A c.99C>T p.A33= Synonymous 1/18 - 1
7-140624405-GG-CT c.98_99delinsAG p.A33E Missense 1/18 - 3
7-140624406-GC-AA c.97_98delinsTT p.A33F Missense 1/18 - 2
7-140624406-G-T c.98C>A p.A33D Missense 1/18 - 1
7-140624402-CGCG-C c.99_101del p.A35del InFrameDeletion 1/18 - 1
7-140624406-GC-CA c.97_98delinsTG p.A33C Missense 1/18 - 1
7-140624406-GC-TT c.97_98delinsAA p.A33N Missense 1/18 - 1
7-140624407-C-T c.97G>A p.A33T Missense 1/18 - 1
7-140624407-C-A c.97G>T p.A33S Missense 1/18 - 1
7-140624410-C-G c.94G>C p.G32R Missense 1/18 - 1
7-140624410-C-A c.94G>T p.G32C Missense 1/18 - 1
7-140624411-GG-CT c.92_93delinsAG p.A31E Missense 1/18 - 1
7-140624411-G-T c.93C>A p.A31= Synonymous 1/18 - 1
7-140624411-G-C c.93C>G p.A31= Synonymous 1/18 - 1
7-140624411-G-A c.93C>T p.A31= Synonymous 1/18 - 1
7-140624411-CGGCGCCGGCG-C c.84_93del p.G30Pfs*21 Frameshift 1/18 - 1
7-140624412-GC-AA c.91_92delinsTT p.A31F Missense 1/18 - 3
7-140624412-GC-CA c.91_92delinsTG p.A31C Missense 1/18 - 2
7-140624412-GC-TT c.91_92delinsAA p.A31N Missense 1/18 - 1
7-140624412-G-T c.92C>A p.A31D Missense 1/18 - 1
7-140624413-C-T c.91G>A p.A31T Missense 1/18 - 1
7-140624413-C-A c.91G>T p.A31S Missense 1/18 - 1
7-140624414-GC-CT c.89_90delinsAG p.G30E Missense 1/18 - 1
7-140624415-C-T c.89G>A p.G30D Missense 1/18 - 2
7-140624415-CC-TT c.88_89delinsAA p.G30N Missense 1/18 - 1
7-140624415-CC-GG c.88_89inv p.G30P Missense 1/18 - 1
7-140624417-GG-CT c.86_87delinsAG p.A29E Missense 1/18 - 3
7-140624417-G-T c.87C>A p.A29= Synonymous 1/18 - 2
7-140624417-G-C c.87C>G p.A29= Synonymous 1/18 - 2
7-140624417-G-A c.87C>T p.A29= Synonymous 1/18 - 2
7-140624417-GGC-CAT c.85_87delinsATG p.A29M Missense 1/18 - 1
7-140624417-GGC-CCA c.85_87delinsTGG p.A29W Missense 1/18 - 1
7-140624418-GC-CA c.85_86delinsTG p.A29C Missense 1/18 - 2
7-140624418-GC-TG c.85_86delinsCA p.A29H Missense 1/18 - 1
7-140624418-GC-TA c.85_86delinsTA p.A29Y Missense 1/18 - 1
7-140624418-GC-TT c.85_86delinsAA p.A29N Missense 1/18 - 1
7-140624419-C-G c.85G>C p.A29P Missense 1/18 - 2
7-140624419-C-T c.85G>A p.A29T Missense 1/18 - 1
7-140624403-GCGGCGC-G c.95_100del p.G32_A33del InFrameDeletion 1/18 - 2
7-140624422-C-A c.82G>T p.G28C Missense 1/18 - 1
7-140624423-G-T c.81C>A p.A27= Synonymous 1/18 - 4
7-140624423-G-C c.81C>G p.A27= Synonymous 1/18 - 4
7-140624423-G-A c.81C>T p.A27= Synonymous 1/18 - 4
7-140624423-GGC-CAT c.79_81delinsATG p.A27M Missense 1/18 - 1
7-140624423-GGC-TTG c.79_81delinsCAA p.A27Q Missense 1/18 - 2
7-140624423-GG-CT c.80_81delinsAG p.A27E Missense 1/18 - 1
7-140624424-GC-AG c.79_80delinsCT p.A27L Missense 1/18 - 7
7-140624424-GC-AA c.79_80delinsTT p.A27F Missense 1/18 - 3
7-140624424-GC-TG c.79_80delinsCA p.A27H Missense 1/18 - 1
7-140624424-GC-AT c.79_80delinsAT p.A27I Missense 1/18 - 1
7-140624424-GC-TT c.79_80delinsAA p.A27N Missense 1/18 - 1
7-140624424-GC-CG c.79_80delinsCG p.A27R Missense 1/18 - 1
7-140624424-G-T c.80C>A p.A27D Missense 1/18 - 2
7-140624424-GC-CA c.79_80delinsTG p.A27C Missense 1/18 - 1
7-140624426-C-G c.78G>C p.E26D Missense 1/18 - 3
7-140624426-C-A c.78G>T p.E26D Missense 1/18 - 4
7-140624428-TC-T c.76del p.E26Rfs*28 Frameshift 1/18 - 1
7-140624430-G-A c.74C>T p.P25L Missense 1/18 - 2
7-140624431-G-T c.73C>A p.P25T Missense 1/18 - 2
7-140624432-C-T c.72G>A p.E24= Synonymous 1/18 - 1
7-140624433-TC-GA c.70_71inv p.E24S Missense 1/18 - 1
7-140624438-G-C c.66C>G p.D22E Missense 1/18 - 1
7-140624438-G-T c.66C>A p.D22E Missense 1/18 - 1
7-140624439-T-C c.65A>G p.D22G Missense 1/18 - 2
7-140624440-C-T c.64G>A p.D22N Missense 1/18 - 17
7-140624441-CCC-ACA c.61_63delinsTGT p.G21C Missense 1/18 - 2
7-140624442-CC-GT c.61_62delinsAC p.G21T Missense 1/18 - 1
7-140624443-C-T c.61G>A p.G21R Missense 1/18 - 1
7-140624443-C-G c.61G>C p.G21R Missense 1/18 - 2
7-140624444-G-A c.60C>T p.N20= Synonymous 1/18 - 1
7-140624445-TT-GC c.58_59delinsGC p.N20A Missense 1/18 - 1
7-140624447-G-A c.57C>T p.F19= Synonymous 1/18 - 1
7-140624448-AA-TC c.55_56delinsGA p.F19D Missense 1/18 - 1
7-140624450-CAG-GAT c.52_54delinsATC p.L18I Missense 1/18 - 1
7-140624450-CAG-AAA c.52_54delinsTTT p.L18F Missense 1/18 - 1
7-140624454-GC-CA c.49_50delinsTG p.A17C Missense 1/18 - 1
7-140624454-GC-TA c.49_50delinsTA p.A17Y Missense 1/18 - 1
7-140624454-G-T c.50C>A p.A17D Missense 1/18 - 1
7-140624455-C-T c.49G>A p.A17T Missense 1/18 - 2
7-140624457-T-C c.47A>G p.Q16R Missense 1/18 - 6
7-140624457-T-A c.47A>T p.Q16L Missense 1/18 - 2
7-140624458-G-T c.46C>A p.Q16K Missense 1/18 - 1
7-140624460-C-A c.44G>T p.G15V Missense 1/18 - 3
7-140624460-C-G c.44G>C p.G15A Missense 1/18 - 1
7-140624460-C-T c.44G>A p.G15D Missense 1/18 - 1
7-140624461-C-G c.43G>C p.G15R Missense 1/18 - 1
7-140624463-G-A c.41C>T p.P14L Missense 1/18 - 1
7-140624465-CTC-ACA c.37_39delinsTGT p.E13C Missense 1/18 - 2
7-140624465-CTC-AAA c.37_39delinsTTT p.E13F Missense 1/18 - 4
7-140624466-TC-CT c.37_38delinsAG p.E13R Missense 1/18 - 1
7-140624467-C-A c.37G>T p.E13* Nonsense 1/18 - 1
7-140624467-C-G c.37G>C p.E13Q Missense 1/18 - 3
7-140624468-CGC-AAA c.34_36delinsTTT p.A12F Missense 1/18 - 2
7-140624468-C-T c.36G>A p.A12= Synonymous 1/18 - 2
7-140624468-C-G c.36G>C p.A12= Synonymous 1/18 - 2
7-140624468-C-A c.36G>T p.A12= Synonymous 1/18 - 2
7-140624463-GGCTCCGCGCCGCCACCACCGCCACC-G c.16_40del p.G6Rfs*40 Frameshift 1/18 - 1
7-140624469-G-T c.35C>A p.A12E Missense 1/18 - 6
7-140624469-G-A c.35C>T p.A12V Missense 1/18 - 1
7-140624470-C-A c.34G>T p.A12S Missense 1/18 - 8
7-140624470-C-G c.34G>C p.A12P Missense 1/18 - 8
7-140624470-C-T c.34G>A p.A12T Missense 1/18 - 5
7-140624472-GCCGCCACCACCGCCACCGCTCAGC-G c.9_32del p.L4_G11del InFrameDeletion 1/18 - 1
7-140624472-C-A c.32G>T p.G11V Missense 1/18 - 1
7-140624473-C-T c.31G>A p.G11S Missense 1/18 - 1
7-140624474-GC-CT c.29_30delinsAG p.G10E Missense 1/18 - 1
7-140624478-C-T c.26G>A p.G9D Missense 1/18 - 1
7-140624478-C-G c.26G>C p.G9A Missense 1/18 - 1
7-140624479-C-T c.25G>A p.G9S Missense 1/18 - 1
7-140624480-A-C c.24T>G p.G8= Synonymous 1/18 - 1
7-140624480-A-T c.24T>A p.G8= Synonymous 1/18 - 1
7-140624480-A-G c.24T>C p.G8= Synonymous 1/18 - 1
7-140624482-C-G c.22G>C p.G8R Missense 1/18 - 1
7-140624485-C-T c.19G>A p.G7S Missense 1/18 - 1
7-140624486-A-C c.18T>G p.G6= Synonymous 1/18 - 1
7-140624486-A-T c.18T>A p.G6= Synonymous 1/18 - 1
7-140624486-A-G c.18T>C p.G6= Synonymous 1/18 - 1
7-140624486-AC-CT c.17_18delinsAG p.G6E Missense 1/18 - 1
7-140624487-C-G c.17G>C p.G6A Missense 1/18 - 1
7-140624492-C-A c.12G>T p.L4= Synonymous 1/18 - 1
7-140624492-C-T c.12G>A p.L4= Synonymous 1/18 - 1
7-140624492-C-G c.12G>C p.L4= Synonymous 1/18 - 1
7-140624494-G-A c.10C>T p.L4= Synonymous 1/18 - 1
7-140624501-C-T c.3G>A p.M1? Missense 1/18 - 1
7-140624508-T-C c.-5A>G - 5-UTRSNV 1/18 - 1
7-140624508-T-A c.-5A>T - 5-UTRSNV 1/18 - 1
7-140624510-A-G c.-7T>C - 5-UTRSNV 1/18 - 1
7-140624521-G-C c.-18C>G - 5-UTRSNV 1/18 - 1
7-140624522-G-A c.-19C>T - 5-UTRSNV 1/18 - 1
7-140624540-C-T c.-37G>A - 5-UTRSNV 1/18 - 1