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 |