12-116396898-A-G |
c.*2173T>C |
- |
3-UTRSNV |
31/31 |
- |
1 |
12-116397088-A-T |
c.*1983T>A |
- |
3-UTRSNV |
31/31 |
- |
3 |
12-116397105-G-T |
c.*1966C>A |
- |
3-UTRSNV |
31/31 |
- |
1 |
12-116397232-A-G |
c.*1839T>C |
- |
3-UTRSNV |
31/31 |
- |
1 |
12-116398626-A-C |
c.*445T>G |
- |
3-UTRSNV |
31/31 |
- |
4 |
12-116399060-T-C |
c.*11A>G |
- |
3-UTRSNV |
31/31 |
- |
1 |
12-116399075-A-T |
c.6629T>A |
p.L2210H |
Missense |
31/31 |
- |
1 |
12-116399082-T-C |
c.6622A>G |
p.N2208D |
Missense |
31/31 |
- |
1 |
12-116399085-T-A |
c.6619A>T |
p.M2207L |
Missense |
31/31 |
- |
3 |
12-116399085-T-C |
c.6619A>G |
p.M2207V |
Missense |
31/31 |
- |
2 |
12-116399085-T-G |
c.6619A>C |
p.M2207L |
Missense |
31/31 |
- |
1 |
12-116399088-T-C |
c.6616A>G |
p.I2206V |
Missense |
31/31 |
- |
1 |
12-116399109-G-A |
c.6595C>T |
p.L2199F |
Missense |
31/31 |
- |
1 |
12-116399112-C-T |
c.6592G>A |
p.V2198M |
Missense |
31/31 |
- |
1 |
12-116399116-A-T |
c.6588T>A |
p.F2196L |
Missense |
31/31 |
- |
1 |
12-116399121-G-A |
c.6583C>T |
p.H2195Y |
Missense |
31/31 |
- |
1 |
12-116399124-C-T |
c.6580G>A |
p.V2194I |
Missense |
31/31 |
- |
1 |
12-116399127-G-A |
c.6577C>T |
p.P2193S |
Missense |
31/31 |
- |
1 |
12-116399133-A-AG |
c.6570dup |
p.C2191Lfs*64 |
Frameshift |
31/31 |
- |
1 |
12-116399135-G-A |
c.6569C>T |
p.S2190F |
Missense |
31/31 |
- |
1 |
12-116399138-G-C |
c.6566C>G |
p.T2189S |
Missense |
31/31 |
- |
1 |
12-116399140-ACG-TCA |
c.6562_6564delinsTGA |
p.R2188* |
Nonsense |
31/31 |
- |
1 |
12-116399142-G-A |
c.6562C>T |
p.R2188C |
Missense |
31/31 |
- |
3 |
12-116399143-G-A |
c.6561C>T |
p.D2187= |
Synonymous |
31/31 |
- |
1 |
12-116399148-G-A |
c.6556C>T |
p.Q2186* |
Nonsense |
31/31 |
- |
2 |
12-116399153-G-T |
c.6551C>A |
p.A2184D |
Missense |
31/31 |
- |
3 |
12-116399153-GC-G |
c.6550del |
p.A2184Pfs*24 |
Frameshift |
31/31 |
- |
1 |
12-116399155-C-A |
c.6549G>T |
p.P2183= |
Synonymous |
31/31 |
- |
4 |
12-116399155-C-G |
c.6549G>C |
p.P2183= |
Synonymous |
31/31 |
- |
1 |
12-116399155-C-T |
c.6549G>A |
p.P2183= |
Synonymous |
31/31 |
- |
3 |
12-116399159-T-C |
c.6545A>G |
p.N2182S |
Missense |
31/31 |
- |
1 |
12-116399165-G-A |
c.6539C>T |
p.T2180M |
Missense |
31/31 |
- |
2 |
12-116399174-G-T |
c.6530C>A |
p.S2177Y |
Missense |
31/31 |
- |
1 |
12-116399182-G-A |
c.6522C>T |
p.N2174= |
Synonymous |
31/31 |
- |
3 |
12-116399188-C-T |
c.6516G>A |
p.Q2172= |
Synonymous |
31/31 |
- |
2 |
12-116399194-C-T |
c.6510G>A |
p.L2170= |
Synonymous |
31/31 |
- |
2 |
12-116399202-A-C |
c.6502T>G |
p.F2168V |
Missense |
31/31 |
- |
3 |
12-116401105-C-G |
c.6500+107G>C |
- |
IntronicSNV |
- |
30/30 |
1 |
12-116401122-A-G |
c.6500+90T>C |
- |
IntronicSNV |
- |
30/30 |
1 |
12-116401214-T-A |
c.6498A>T |
p.L2166F |
Missense |
30/31 |
- |
5 |
12-116401214-T-G |
c.6498A>C |
p.L2166F |
Missense |
30/31 |
- |
2 |
12-116401219-C-A |
c.6493G>T |
p.V2165F |
Missense |
30/31 |
- |
1 |
12-116401224-G-A |
c.6488C>T |
p.S2163L |
Missense |
30/31 |
- |
4 |
12-116401227-G-A |
c.6485C>T |
p.T2162M |
Missense |
30/31 |
- |
8 |
12-116401227-G-T |
c.6485C>A |
p.T2162K |
Missense |
30/31 |
- |
1 |
12-116401231-T-C |
c.6481A>G |
p.T2161A |
Missense |
30/31 |
- |
1 |
12-116401231-T-G |
c.6481A>C |
p.T2161P |
Missense |
30/31 |
- |
2 |
12-116401246-G-A |
c.6466C>T |
p.P2156S |
Missense |
30/31 |
- |
1 |
12-116401250-T-TG |
c.6461dup |
p.H2155Tfs*4 |
Frameshift |
30/31 |
- |
1 |
12-116401252-G-A |
c.6460C>T |
p.P2154S |
Missense |
30/31 |
- |
1 |
12-116401254-A-G |
c.6458T>C |
p.V2153A |
Missense |
30/31 |
- |
1 |
12-116401255-C-T |
c.6457G>A |
p.V2153I |
Missense |
30/31 |
- |
1 |
12-116401258-G-A |
c.6454C>T |
p.R2152W |
Missense |
30/31 |
- |
2 |
12-116401260-T-G |
c.6452A>C |
p.Q2151P |
Missense |
30/31 |
- |
1 |
12-116401266-T-G |
c.6446A>C |
p.N2149T |
Missense |
30/31 |
- |
4 |
12-116401267-T-C |
c.6445A>G |
p.N2149D |
Missense |
30/31 |
- |
1 |
12-116401277-C-A |
c.6435G>T |
p.L2145= |
Synonymous |
30/31 |
- |
1 |
12-116401277-C-G |
c.6435G>C |
p.L2145= |
Synonymous |
30/31 |
- |
1 |
12-116401277-C-T |
c.6435G>A |
p.L2145= |
Synonymous |
30/31 |
- |
1 |
12-116401279-G-A |
c.6433C>T |
p.L2145= |
Synonymous |
30/31 |
- |
1 |
12-116401283-T-G |
c.6429A>C |
p.E2143D |
Missense |
30/31 |
- |
1 |
12-116401285-C-T |
c.6427G>A |
p.E2143K |
Missense |
30/31 |
- |
4 |
12-116401288-C-A |
c.6424G>T |
p.D2142Y |
Missense |
30/31 |
- |
1 |
12-116401294-G-A |
c.6418C>T |
p.Q2140* |
Nonsense |
30/31 |
- |
3 |
12-116401297-C-G |
c.6415G>C |
p.A2139P |
Missense |
30/31 |
- |
4 |
12-116401305-A-C |
c.6407T>G |
p.I2136S |
Missense |
30/31 |
- |
1 |
12-116401312-G-A |
c.6400C>T |
p.H2134Y |
Missense |
30/31 |
- |
2 |
12-116401319-C-A |
c.6393G>T |
p.S2131= |
Synonymous |
30/31 |
- |
1 |
12-116401319-C-G |
c.6393G>C |
p.S2131= |
Synonymous |
30/31 |
- |
1 |
12-116401319-C-T |
c.6393G>A |
p.S2131= |
Synonymous |
30/31 |
- |
1 |
12-116401320-G-A |
c.6392C>T |
p.S2131L |
Missense |
30/31 |
- |
6 |
12-116401322-A-G |
c.6390T>C |
p.A2130= |
Synonymous |
30/31 |
- |
1 |
12-116403898-G-C |
c.6376C>G |
p.L2126V |
Missense |
29/31 |
- |
1 |
12-116403899-A-C |
c.6375T>G |
p.P2125= |
Synonymous |
29/31 |
- |
1 |
12-116403899-A-G |
c.6375T>C |
p.P2125= |
Synonymous |
29/31 |
- |
1 |
12-116403899-A-T |
c.6375T>A |
p.P2125= |
Synonymous |
29/31 |
- |
1 |
12-116403916-C-T |
c.6358G>A |
p.A2120T |
Missense |
29/31 |
- |
1 |
12-116403917-C-T |
c.6357G>A |
p.Q2119= |
Synonymous |
29/31 |
- |
3 |
12-116403920-G-A |
c.6354C>T |
p.P2118= |
Synonymous |
29/31 |
- |
5 |
12-116403920-G-C |
c.6354C>G |
p.P2118= |
Synonymous |
29/31 |
- |
1 |
12-116403920-G-T |
c.6354C>A |
p.P2118= |
Synonymous |
29/31 |
- |
1 |
12-116403923-A-T |
c.6351T>A |
p.C2117* |
Nonsense |
29/31 |
- |
3 |
12-116403926-C-A |
c.6348G>T |
p.S2116= |
Synonymous |
29/31 |
- |
3 |
12-116403926-C-G |
c.6348G>C |
p.S2116= |
Synonymous |
29/31 |
- |
3 |
12-116403926-C-T |
c.6348G>A |
p.S2116= |
Synonymous |
29/31 |
- |
3 |
12-116403927-G-A |
c.6347C>T |
p.S2116L |
Missense |
29/31 |
- |
5 |
12-116403933-C-A |
c.6341G>T |
p.W2114L |
Missense |
29/31 |
- |
2 |
12-116403935-A-T |
c.6339T>A |
p.F2113L |
Missense |
29/31 |
- |
1 |
12-116403936-A-C |
c.6338T>G |
p.F2113C |
Missense |
29/31 |
- |
1 |
12-116403938-C-A |
c.6336G>T |
p.W2112C |
Missense |
29/31 |
- |
2 |
12-116403938-C-G |
c.6336G>C |
p.W2112C |
Missense |
29/31 |
- |
1 |
12-116403938-C-T |
c.6336G>A |
p.W2112* |
Nonsense |
29/31 |
- |
1 |
12-116403940-A-G |
c.6334T>C |
p.W2112R |
Missense |
29/31 |
- |
3 |
12-116403940-A-T |
c.6334T>A |
p.W2112R |
Missense |
29/31 |
- |
2 |
12-116403943-G-A |
c.6331C>T |
p.Q2111* |
Nonsense |
29/31 |
- |
1 |
12-116403943-G-T |
c.6331C>A |
p.Q2111K |
Missense |
29/31 |
- |
1 |
12-116403945-G-A |
c.6329C>T |
p.P2110L |
Missense |
29/31 |
- |
1 |
12-116403948-A-T |
c.6326T>A |
p.L2109H |
Missense |
29/31 |
- |
2 |
12-116403951-T-C |
c.6323A>G |
p.N2108S |
Missense |
29/31 |
- |
1 |
12-116403952-T-C |
c.6322A>G |
p.N2108D |
Missense |
29/31 |
- |
1 |
12-116403953-C-A |
c.6321G>T |
p.E2107D |
Missense |
29/31 |
- |
1 |
12-116403953-C-G |
c.6321G>C |
p.E2107D |
Missense |
29/31 |
- |
1 |
12-116403955-C-G |
c.6319G>C |
p.E2107Q |
Missense |
29/31 |
- |
3 |
12-116403955-C-T |
c.6319G>A |
p.E2107K |
Missense |
29/31 |
- |
1 |
12-116403957-G-A |
c.6317C>T |
p.A2106V |
Missense |
29/31 |
- |
2 |
12-116403957-GC-AT |
c.6316_6317delinsAT |
p.A2106I |
Missense |
29/31 |
- |
1 |
12-116403958-C-A |
c.6316G>T |
p.A2106S |
Missense |
29/31 |
- |
1 |
12-116403958-C-T |
c.6316G>A |
p.A2106T |
Missense |
29/31 |
- |
1 |
12-116403968-T-A |
c.6306A>T |
p.S2102= |
Synonymous |
29/31 |
- |
2 |
12-116403968-T-C |
c.6306A>G |
p.S2102= |
Synonymous |
29/31 |
- |
1 |
12-116403968-T-G |
c.6306A>C |
p.S2102= |
Synonymous |
29/31 |
- |
1 |
12-116403969-G-A |
c.6305C>T |
p.S2102L |
Missense |
29/31 |
- |
1 |
12-116403973-C-A |
c.6301G>T |
p.V2101L |
Missense |
29/31 |
- |
3 |
12-116403973-C-G |
c.6301G>C |
p.V2101L |
Missense |
29/31 |
- |
2 |
12-116403974-A-G |
c.6300T>C |
p.F2100= |
Synonymous |
29/31 |
- |
1 |
12-116403979-A-C |
c.6295T>G |
p.Y2099D |
Missense |
29/31 |
- |
1 |
12-116403980-C-T |
c.6294G>A |
p.G2098= |
Synonymous |
29/31 |
- |
1 |
12-116403988-C-T |
c.6286G>A |
p.A2096T |
Missense |
29/31 |
- |
1 |
12-116403989-C-CA |
c.6284dup |
p.A2096Gfs*12 |
Frameshift |
29/31 |
- |
3 |
12-116403991-G-A |
c.6283C>T |
p.L2095= |
Synonymous |
29/31 |
- |
1 |
12-116403992-G-A |
c.6282C>T |
p.P2094= |
Synonymous |
29/31 |
- |
2 |
12-116403994-G-A |
c.6280C>T |
p.P2094S |
Missense |
29/31 |
- |
2 |
12-116403994-G-T |
c.6280C>A |
p.P2094T |
Missense |
29/31 |
- |
2 |
12-116403999-T-C |
c.6275A>G |
p.Q2092R |
Missense |
29/31 |
- |
1 |
12-116404014-G-C |
c.6260C>G |
p.P2087R |
Missense |
29/31 |
- |
1 |
12-116404013-TG-T |
c.6260del |
p.P2087Qfs*4 |
Frameshift |
29/31 |
- |
2 |
12-116404015-G-T |
c.6259C>A |
p.P2087T |
Missense |
29/31 |
- |
1 |
12-116404017-G-T |
c.6257C>A |
p.A2086E |
Missense |
29/31 |
- |
1 |
12-116404026-G-C |
c.6248C>G |
p.S2083C |
Missense |
29/31 |
- |
2 |
12-116404030-G-A |
c.6244C>T |
p.L2082F |
Missense |
29/31 |
- |
6 |
12-116404030-G-T |
c.6244C>A |
p.L2082I |
Missense |
29/31 |
- |
1 |
12-116404033-G-A |
c.6241C>T |
p.L2081F |
Missense |
29/31 |
- |
1 |
12-116404035-C-T |
c.6239G>A |
p.R2080H |
Missense |
29/31 |
- |
1 |
12-116404036-G-A |
c.6238C>T |
p.R2080C |
Missense |
29/31 |
- |
3 |
12-116404041-C-A |
c.6233G>T |
p.G2078V |
Missense |
29/31 |
- |
2 |
12-116404042-C-T |
c.6232G>A |
p.G2078S |
Missense |
29/31 |
- |
3 |
12-116404043-C-A |
c.6231G>T |
p.Q2077H |
Missense |
29/31 |
- |
1 |
12-116404043-C-G |
c.6231G>C |
p.Q2077H |
Missense |
29/31 |
- |
1 |
12-116404197-C-T |
c.6226-149G>A |
- |
IntronicSNV |
- |
28/30 |
1 |
12-116406725-G-A |
c.6225+20C>T |
- |
IntronicSNV |
- |
28/30 |
1 |
12-116406739-C-G |
c.6225+6G>C |
- |
IntronicSNV |
- |
28/30 |
1 |
12-116406746-C-T |
c.6224G>A |
p.R2075Q |
Missense |
28/31 |
- |
1 |
12-116406747-G-A |
c.6223C>T |
p.R2075W |
Missense |
28/31 |
- |
4 |
12-116406747-G-T |
c.6223C>A |
p.R2075= |
Synonymous |
28/31 |
- |
3 |
12-116406756-G-A |
c.6214C>T |
p.Q2072* |
Nonsense |
28/31 |
- |
2 |
12-116406757-G-A |
c.6213C>T |
p.F2071= |
Synonymous |
28/31 |
- |
1 |
12-116406764-G-C |
c.6206C>G |
p.S2069C |
Missense |
28/31 |
- |
1 |
12-116406774-C-A |
c.6196G>T |
p.G2066C |
Missense |
28/31 |
- |
1 |
12-116406777-T-C |
c.6193A>G |
p.I2065V |
Missense |
28/31 |
- |
3 |
12-116406782-G-A |
c.6188C>T |
p.S2063F |
Missense |
28/31 |
- |
2 |
12-116406784-A-C |
c.6186T>G |
p.P2062= |
Synonymous |
28/31 |
- |
3 |
12-116406786-G-A |
c.6184C>T |
p.P2062S |
Missense |
28/31 |
- |
6 |
12-116406796-G-A |
c.6174C>T |
p.S2058= |
Synonymous |
28/31 |
- |
2 |
12-116406796-G-C |
c.6174C>G |
p.S2058= |
Synonymous |
28/31 |
- |
1 |
12-116406796-G-T |
c.6174C>A |
p.S2058= |
Synonymous |
28/31 |
- |
1 |
12-116406797-G-A |
c.6173C>T |
p.S2058F |
Missense |
28/31 |
- |
1 |
12-116406798-A-G |
c.6172T>C |
p.S2058P |
Missense |
28/31 |
- |
1 |
12-116406801-G-A |
c.6169C>T |
p.P2057S |
Missense |
28/31 |
- |
1 |
12-116406806-G-A |
c.6164C>T |
p.P2055L |
Missense |
28/31 |
- |
1 |
12-116406815-T-G |
c.6155A>C |
p.N2052T |
Missense |
28/31 |
- |
1 |
12-116406817-G-A |
c.6153C>T |
p.P2051= |
Synonymous |
28/31 |
- |
1 |
12-116406817-G-C |
c.6153C>G |
p.P2051= |
Synonymous |
28/31 |
- |
1 |
12-116406819-G-A |
c.6151C>T |
p.P2051S |
Missense |
28/31 |
- |
1 |
12-116406825-A-G |
c.6145T>C |
p.S2049P |
Missense |
28/31 |
- |
1 |
12-116406832-G-A |
c.6138C>T |
p.N2046= |
Synonymous |
28/31 |
- |
1 |
12-116406835-C-A |
c.6135G>T |
p.G2045= |
Synonymous |
28/31 |
- |
2 |
12-116406835-C-G |
c.6135G>C |
p.G2045= |
Synonymous |
28/31 |
- |
2 |
12-116406835-C-T |
c.6135G>A |
p.G2045= |
Synonymous |
28/31 |
- |
3 |
12-116406849-T-C |
c.6121A>G |
p.I2041V |
Missense |
28/31 |
- |
1 |
12-116406844-TAATATGCC-T |
c.6118_6125del |
p.G2040Nfs*32 |
Frameshift |
28/31 |
- |
3 |
12-116406850-G-A |
c.6120C>T |
p.G2040= |
Synonymous |
28/31 |
- |
1 |
12-116406855-T-C |
c.6115A>G |
p.I2039V |
Missense |
28/31 |
- |
1 |
12-116406859-A-C |
c.6111T>G |
p.N2037K |
Missense |
28/31 |
- |
2 |
12-116406859-A-T |
c.6111T>A |
p.N2037K |
Missense |
28/31 |
- |
2 |
12-116406860-T-A |
c.6110A>T |
p.N2037I |
Missense |
28/31 |
- |
1 |
12-116406859-A-AT |
c.6110dup |
p.N2037Kfs*2 |
Frameshift |
28/31 |
- |
1 |
12-116406869-T-C |
c.6101A>G |
p.D2034G |
Missense |
28/31 |
- |
2 |
12-116406873-C-A |
c.6097G>T |
p.D2033Y |
Missense |
28/31 |
- |
1 |
12-116406876-G-A |
c.6094C>T |
p.P2032S |
Missense |
28/31 |
- |
1 |
12-116406877-G-C |
c.6093C>G |
p.F2031L |
Missense |
28/31 |
- |
5 |
12-116406877-G-T |
c.6093C>A |
p.F2031L |
Missense |
28/31 |
- |
4 |
12-116406879-A-G |
c.6091T>C |
p.F2031L |
Missense |
28/31 |
- |
4 |
12-116406886-G-A |
c.6084C>T |
p.D2028= |
Synonymous |
28/31 |
- |
1 |
12-116406888-C-A |
c.6082G>T |
p.D2028Y |
Missense |
28/31 |
- |
2 |
12-116406892-A-C |
c.6078T>G |
p.F2026L |
Missense |
28/31 |
- |
2 |
12-116406892-A-T |
c.6078T>A |
p.F2026L |
Missense |
28/31 |
- |
2 |
12-116406894-A-G |
c.6076T>C |
p.F2026L |
Missense |
28/31 |
- |
2 |
12-116406896-A-C |
c.6074T>G |
p.M2025R |
Missense |
28/31 |
- |
3 |
12-116406896-A-AT |
c.6073dup |
p.M2025Nfs*4 |
Frameshift |
28/31 |
- |
2 |
12-116406902-T-C |
c.6068A>G |
p.D2023G |
Missense |
28/31 |
- |
10 |
12-116406910-G-A |
c.6068-8C>T |
- |
IntronicSNV |
- |
27/30 |
1 |
12-116408257-A-T |
c.6067+142T>A |
- |
IntronicSNV |
- |
27/30 |
2 |
12-116408380-A-T |
c.6067+19T>A |
- |
IntronicSNV |
- |
27/30 |
1 |
12-116408402-T-C |
c.6064A>G |
p.N2022D |
Missense |
27/31 |
- |
1 |
12-116408404-T-C |
c.6062A>G |
p.N2021S |
Missense |
27/31 |
- |
1 |
12-116408409-G-A |
c.6057C>T |
p.S2019= |
Synonymous |
27/31 |
- |
1 |
12-116408412-A-T |
c.6054T>A |
p.F2018L |
Missense |
27/31 |
- |
2 |
12-116408416-C-A |
c.6050G>T |
p.G2017V |
Missense |
27/31 |
- |
1 |
12-116408416-C-G |
c.6050G>C |
p.G2017A |
Missense |
27/31 |
- |
1 |
12-116408417-C-A |
c.6049G>T |
p.G2017W |
Missense |
27/31 |
- |
1 |
12-116408420-C-G |
c.6046G>C |
p.D2016H |
Missense |
27/31 |
- |
1 |
12-116408425-T-C |
c.6041A>G |
p.N2014S |
Missense |
27/31 |
- |
1 |
12-116408427-G-A |
c.6039C>T |
p.P2013= |
Synonymous |
27/31 |
- |
1 |
12-116408428-G-A |
c.6038C>T |
p.P2013L |
Missense |
27/31 |
- |
2 |
12-116408434-T-A |
c.6032A>T |
p.N2011I |
Missense |
27/31 |
- |
1 |
12-116408450-G-A |
c.6016C>T |
p.Q2006* |
Nonsense |
27/31 |
- |
1 |
12-116408451-G-A |
c.6015C>T |
p.I2005= |
Synonymous |
27/31 |
- |
2 |
12-116408453-T-C |
c.6013A>G |
p.I2005V |
Missense |
27/31 |
- |
2 |
12-116408455-G-A |
c.6011C>T |
p.T2004I |
Missense |
27/31 |
- |
1 |
12-116408456-T-C |
c.6010A>G |
p.T2004A |
Missense |
27/31 |
- |
1 |
12-116408458-G-A |
c.6008C>T |
p.S2003L |
Missense |
27/31 |
- |
8 |
12-116408461-G-A |
c.6005C>T |
p.S2002L |
Missense |
27/31 |
- |
6 |
12-116408462-A-T |
c.6004T>A |
p.S2002T |
Missense |
27/31 |
- |
1 |
12-116408464-G-A |
c.6002C>T |
p.T2001I |
Missense |
27/31 |
- |
1 |
12-116408469-G-A |
c.5997C>T |
p.F1999= |
Synonymous |
27/31 |
- |
1 |
12-116408480-T-C |
c.5986A>G |
p.I1996V |
Missense |
27/31 |
- |
3 |
12-116408482-T-C |
c.5984A>G |
p.H1995R |
Missense |
27/31 |
- |
1 |
12-116408483-G-A |
c.5983C>T |
p.H1995Y |
Missense |
27/31 |
- |
1 |
12-116408488-C-T |
c.5978G>A |
p.C1993Y |
Missense |
27/31 |
- |
1 |
12-116408491-G-A |
c.5975C>T |
p.S1992F |
Missense |
27/31 |
- |
1 |
12-116408501-G-A |
c.5965C>T |
p.Q1989* |
Nonsense |
27/31 |
- |
1 |
12-116408502-A-G |
c.5964T>C |
p.P1988= |
Synonymous |
27/31 |
- |
1 |
12-116408504-G-A |
c.5962C>T |
p.P1988S |
Missense |
27/31 |
- |
2 |
12-116408506-G-A |
c.5960C>T |
p.T1987I |
Missense |
27/31 |
- |
1 |
12-116408516-G-A |
c.5950C>T |
p.Q1984* |
Nonsense |
27/31 |
- |
5 |
12-116408522-A-C |
c.5944T>G |
p.S1982A |
Missense |
27/31 |
- |
1 |
12-116408523-C-A |
c.5943G>T |
p.Q1981H |
Missense |
27/31 |
- |
2 |
12-116408523-C-G |
c.5943G>C |
p.Q1981H |
Missense |
27/31 |
- |
2 |
12-116408523-C-T |
c.5943G>A |
p.Q1981= |
Synonymous |
27/31 |
- |
1 |
12-116408525-G-A |
c.5941C>T |
p.Q1981* |
Nonsense |
27/31 |
- |
1 |
12-116408527-A-G |
c.5939T>C |
p.M1980T |
Missense |
27/31 |
- |
2 |
12-116408537-C-G |
c.5929G>C |
p.A1977P |
Missense |
27/31 |
- |
1 |
12-116408537-C-T |
c.5929G>A |
p.A1977T |
Missense |
27/31 |
- |
1 |
12-116408538-A-G |
c.5928T>C |
p.T1976= |
Synonymous |
27/31 |
- |
17 |
12-116408541-A-G |
c.5925T>C |
p.S1975= |
Synonymous |
27/31 |
- |
1 |
12-116408545-C-T |
c.5921G>A |
p.R1974Q |
Missense |
27/31 |
- |
1 |
12-116408546-G-A |
c.5920C>T |
p.R1974* |
Nonsense |
27/31 |
- |
6 |
12-116408551-A-C |
c.5915T>G |
p.F1972C |
Missense |
27/31 |
- |
1 |
12-116408553-A-C |
c.5913T>G |
p.V1971= |
Synonymous |
27/31 |
- |
1 |
12-116408553-A-G |
c.5913T>C |
p.V1971= |
Synonymous |
27/31 |
- |
1 |
12-116408553-A-T |
c.5913T>A |
p.V1971= |
Synonymous |
27/31 |
- |
1 |
12-116408572-G-A |
c.5894C>T |
p.A1965V |
Missense |
27/31 |
- |
2 |
12-116409806-C-T |
c.5890+77G>A |
- |
IntronicSNV |
- |
26/30 |
1 |
12-116409866-G-A |
c.5890+17C>T |
- |
IntronicSNV |
- |
26/30 |
1 |
12-116409895-C-T |
c.5878G>A |
p.V1960I |
Missense |
26/31 |
- |
1 |
12-116409900-G-A |
c.5873C>T |
p.S1958F |
Missense |
26/31 |
- |
5 |
12-116409904-C-A |
c.5869G>T |
p.G1957W |
Missense |
26/31 |
- |
1 |
12-116409904-C-G |
c.5869G>C |
p.G1957R |
Missense |
26/31 |
- |
1 |
12-116409904-C-T |
c.5869G>A |
p.G1957R |
Missense |
26/31 |
- |
4 |
12-116409906-T-A |
c.5867A>T |
p.Q1956L |
Missense |
26/31 |
- |
1 |
12-116409908-G-A |
c.5865C>T |
p.P1955= |
Synonymous |
26/31 |
- |
1 |
12-116409918-G-A |
c.5855C>T |
p.A1952V |
Missense |
26/31 |
- |
1 |
12-116409924-A-G |
c.5849T>C |
p.L1950P |
Missense |
26/31 |
- |
1 |
12-116409926-G-A |
c.5847C>T |
p.C1949= |
Synonymous |
26/31 |
- |
1 |
12-116409934-T-C |
c.5839A>G |
p.S1947G |
Missense |
26/31 |
- |
1 |
12-116409935-A-C |
c.5838T>G |
p.L1946= |
Synonymous |
26/31 |
- |
1 |
12-116409935-A-G |
c.5838T>C |
p.L1946= |
Synonymous |
26/31 |
- |
1 |
12-116409935-A-T |
c.5838T>A |
p.L1946= |
Synonymous |
26/31 |
- |
1 |
12-116409937-G-A |
c.5836C>T |
p.L1946F |
Missense |
26/31 |
- |
3 |
12-116409942-G-C |
c.5831C>G |
p.S1944C |
Missense |
26/31 |
- |
1 |
12-116409947-A-C |
c.5826T>G |
p.S1942= |
Synonymous |
26/31 |
- |
1 |
12-116409947-A-G |
c.5826T>C |
p.S1942= |
Synonymous |
26/31 |
- |
1 |
12-116409947-A-T |
c.5826T>A |
p.S1942= |
Synonymous |
26/31 |
- |
1 |
12-116409955-C-A |
c.5818G>T |
p.A1940S |
Missense |
26/31 |
- |
1 |
12-116409955-C-T |
c.5818G>A |
p.A1940T |
Missense |
26/31 |
- |
1 |
12-116409956-G-A |
c.5817C>T |
p.A1939= |
Synonymous |
26/31 |
- |
1 |
12-116409956-G-C |
c.5817C>G |
p.A1939= |
Synonymous |
26/31 |
- |
1 |
12-116409956-G-T |
c.5817C>A |
p.A1939= |
Synonymous |
26/31 |
- |
1 |
12-116409959-A-G |
c.5814T>C |
p.S1938= |
Synonymous |
26/31 |
- |
1 |
12-116409962-G-A |
c.5811C>T |
p.I1937= |
Synonymous |
26/31 |
- |
1 |
12-116409969-C-CA |
c.5803dup |
p.C1935Lfs*13 |
Frameshift |
26/31 |
- |
1 |
12-116409971-C-A |
c.5802G>T |
p.M1934I |
Missense |
26/31 |
- |
1 |
12-116409971-C-G |
c.5802G>C |
p.M1934I |
Missense |
26/31 |
- |
1 |
12-116409971-C-T |
c.5802G>A |
p.M1934I |
Missense |
26/31 |
- |
3 |
12-116409975-C-A |
c.5798G>T |
p.R1933L |
Missense |
26/31 |
- |
1 |
12-116409975-C-T |
c.5798G>A |
p.R1933Q |
Missense |
26/31 |
- |
2 |
12-116409976-G-A |
c.5797C>T |
p.R1933W |
Missense |
26/31 |
- |
1 |
12-116409982-C-T |
c.5791G>A |
p.V1931M |
Missense |
26/31 |
- |
1 |
12-116409988-T-C |
c.5785A>G |
p.K1929E |
Missense |
26/31 |
- |
2 |
12-116409988-T-G |
c.5785A>C |
p.K1929Q |
Missense |
26/31 |
- |
1 |
12-116409989-G-A |
c.5784C>T |
p.L1928= |
Synonymous |
26/31 |
- |
1 |
12-116409989-G-C |
c.5784C>G |
p.L1928= |
Synonymous |
26/31 |
- |
1 |
12-116409989-G-T |
c.5784C>A |
p.L1928= |
Synonymous |
26/31 |
- |
1 |
12-116409992-C-T |
c.5781G>A |
p.K1927= |
Synonymous |
26/31 |
- |
2 |
12-116410005-G-A |
c.5768C>T |
p.T1923I |
Missense |
26/31 |
- |
3 |
12-116410012-G-T |
c.5761C>A |
p.L1921I |
Missense |
26/31 |
- |
1 |
12-116410017-C-G |
c.5756G>C |
p.C1919S |
Missense |
26/31 |
- |
1 |
12-116410018-A-T |
c.5755T>A |
p.C1919S |
Missense |
26/31 |
- |
1 |
12-116410021-C-T |
c.5752G>A |
p.E1918K |
Missense |
26/31 |
- |
2 |
12-116410023-C-T |
c.5750G>A |
p.G1917E |
Missense |
26/31 |
- |
2 |
12-116410025-A-G |
c.5748T>C |
p.L1916= |
Synonymous |
26/31 |
- |
1 |
12-116410027-G-A |
c.5746C>T |
p.L1916F |
Missense |
26/31 |
- |
3 |
12-116410027-G-T |
c.5746C>A |
p.L1916I |
Missense |
26/31 |
- |
1 |
12-116410029-A-G |
c.5744T>C |
p.L1915P |
Missense |
26/31 |
- |
1 |
12-116410029-A-T |
c.5744T>A |
p.L1915H |
Missense |
26/31 |
- |
1 |
12-116410030-G-A |
c.5743C>T |
p.L1915F |
Missense |
26/31 |
- |
1 |
12-116410031-G-A |
c.5742C>T |
p.I1914= |
Synonymous |
26/31 |
- |
1 |
12-116410034-A-C |
c.5739T>G |
p.S1913R |
Missense |
26/31 |
- |
3 |
12-116410034-A-T |
c.5739T>A |
p.S1913R |
Missense |
26/31 |
- |
5 |
12-116410036-T-G |
c.5737A>C |
p.S1913R |
Missense |
26/31 |
- |
3 |
12-116412917-G-A |
c.5731+59C>T |
- |
IntronicSNV |
- |
25/30 |
1 |
12-116412921-A-T |
c.5731+55T>A |
- |
IntronicSNV |
- |
25/30 |
4 |
12-116412921-AT-TC |
c.5731+54_5731+55delinsGA |
- |
IntronicBlockSubstitution |
- |
25/30 |
1 |
12-116412922-T-C |
c.5731+54A>G |
- |
IntronicSNV |
- |
25/30 |
4 |
12-116412971-C-T |
c.5731+5G>A |
- |
IntronicSNV |
- |
25/30 |
1 |
12-116412974-A-G |
c.5731+2T>C |
- |
IntronicSNV |
- |
25/30 |
2 |
12-116412976-C-T |
c.5731G>A |
p.D1911N |
Missense |
25/31 |
- |
2 |
12-116412999-C-T |
c.5708G>A |
p.R1903H |
Missense |
25/31 |
- |
4 |
12-116413000-G-A |
c.5707C>T |
p.R1903C |
Missense |
25/31 |
- |
4 |
12-116413003-C-A |
c.5704G>T |
p.G1902W |
Missense |
25/31 |
- |
1 |
12-116413008-C-T |
c.5699G>A |
p.R1900Q |
Missense |
25/31 |
- |
1 |
12-116413009-G-A |
c.5698C>T |
p.R1900* |
Nonsense |
25/31 |
- |
6 |
12-116413011-C-A |
c.5696G>T |
p.G1899V |
Missense |
25/31 |
- |
4 |
12-116413012-C-G |
c.5695G>C |
p.G1899R |
Missense |
25/31 |
- |
1 |
12-116413012-C-T |
c.5695G>A |
p.G1899R |
Missense |
25/31 |
- |
8 |
12-116413013-G-A |
c.5694C>T |
p.I1898= |
Synonymous |
25/31 |
- |
1 |
12-116413023-C-T |
c.5684G>A |
p.R1895K |
Missense |
25/31 |
- |
1 |
12-116413030-G-A |
c.5677C>T |
p.P1893S |
Missense |
25/31 |
- |
1 |
12-116413040-C-A |
c.5667G>T |
p.M1889I |
Missense |
25/31 |
- |
1 |
12-116413040-C-G |
c.5667G>C |
p.M1889I |
Missense |
25/31 |
- |
1 |
12-116413040-C-T |
c.5667G>A |
p.M1889I |
Missense |
25/31 |
- |
1 |
12-116413042-T-C |
c.5665A>G |
p.M1889V |
Missense |
25/31 |
- |
2 |
12-116413051-T-A |
c.5656A>T |
p.I1886F |
Missense |
25/31 |
- |
1 |
12-116413074-T-C |
c.5633A>G |
p.K1878R |
Missense |
25/31 |
- |
2 |
12-116413073-CTTCTGTAG-C |
c.5626_5633del |
p.L1876Vfs*32 |
Frameshift |
25/31 |
- |
1 |
12-116413078-G-A |
c.5629C>T |
p.Q1877* |
Nonsense |
25/31 |
- |
1 |
12-116413079-GT-G |
c.5628del |
p.Q1877Rfs*8 |
Frameshift |
25/31 |
- |
1 |
12-116413083-C-T |
c.5624G>A |
p.G1875E |
Missense |
25/31 |
- |
1 |
12-116413089-T-G |
c.5618A>C |
p.K1873T |
Missense |
25/31 |
- |
1 |
12-116413092-C-T |
c.5615G>A |
p.R1872H |
Missense |
25/31 |
- |
11 |
12-116413093-G-A |
c.5614C>T |
p.R1872C |
Missense |
25/31 |
- |
2 |
12-116413095-G-A |
c.5612C>T |
p.A1871V |
Missense |
25/31 |
- |
1 |
12-116413096-C-T |
c.5611G>A |
p.A1871T |
Missense |
25/31 |
- |
1 |
12-116413109-C-T |
c.5598G>A |
p.R1866= |
Synonymous |
25/31 |
- |
3 |
12-116413111-T-G |
c.5596A>C |
p.R1866= |
Synonymous |
25/31 |
- |
1 |
12-116413113-C-T |
c.5594G>A |
p.R1865Q |
Missense |
25/31 |
- |
1 |
12-116413112-C-A |
c.5595G>T |
p.R1865= |
Synonymous |
25/31 |
- |
1 |
12-116413112-C-G |
c.5595G>C |
p.R1865= |
Synonymous |
25/31 |
- |
1 |
12-116413112-C-T |
c.5595G>A |
p.R1865= |
Synonymous |
25/31 |
- |
1 |
12-116413114-G-A |
c.5593C>T |
p.R1865W |
Missense |
25/31 |
- |
3 |
12-116413114-G-T |
c.5593C>A |
p.R1865= |
Synonymous |
25/31 |
- |
1 |
12-116413115-GT-G |
c.5592del |
p.R1865Gfs*20 |
Frameshift |
25/31 |
- |
2 |
12-116413133-A-C |
c.5589-15T>G |
- |
IntronicSNV |
- |
24/30 |
1 |
12-116413145-G-C |
c.5589-27C>G |
- |
IntronicSNV |
- |
24/30 |
1 |
12-116413151-G-C |
c.5589-33C>G |
- |
IntronicSNV |
- |
24/30 |
1 |
12-116413319-C-T |
c.5588+1G>A |
- |
IntronicSNV |
- |
24/30 |
2 |
12-116413321-T-C |
c.5587A>G |
p.R1863G |
Missense |
24/31 |
- |
2 |
12-116413327-G-T |
c.5581C>A |
p.P1861T |
Missense |
24/31 |
- |
1 |
12-116413331-A-C |
c.5577T>G |
p.A1859= |
Synonymous |
24/31 |
- |
1 |
12-116413331-A-G |
c.5577T>C |
p.A1859= |
Synonymous |
24/31 |
- |
1 |
12-116413331-A-T |
c.5577T>A |
p.A1859= |
Synonymous |
24/31 |
- |
1 |
12-116413345-C-T |
c.5563G>A |
p.V1855I |
Missense |
24/31 |
- |
4 |
12-116413346-G-A |
c.5562C>T |
p.C1854= |
Synonymous |
24/31 |
- |
2 |
12-116413346-G-T |
c.5562C>A |
p.C1854* |
Nonsense |
24/31 |
- |
1 |
12-116413350-G-T |
c.5558C>A |
p.T1853N |
Missense |
24/31 |
- |
1 |
12-116413354-C-G |
c.5554G>C |
p.E1852Q |
Missense |
24/31 |
- |
2 |
12-116413356-A-G |
c.5552T>C |
p.L1851S |
Missense |
24/31 |
- |
2 |
12-116413358-T-A |
c.5550A>T |
p.L1850F |
Missense |
24/31 |
- |
1 |
12-116413358-T-G |
c.5550A>C |
p.L1850F |
Missense |
24/31 |
- |
1 |
12-116413359-A-C |
c.5549T>G |
p.L1850* |
Nonsense |
24/31 |
- |
1 |
12-116413359-A-T |
c.5549T>A |
p.L1850* |
Nonsense |
24/31 |
- |
1 |
12-116413363-C-G |
c.5545G>C |
p.E1849Q |
Missense |
24/31 |
- |
1 |
12-116413365-C-G |
c.5543G>C |
p.G1848A |
Missense |
24/31 |
- |
1 |
12-116413370-G-A |
c.5538C>T |
p.L1846= |
Synonymous |
24/31 |
- |
1 |
12-116413373-G-A |
c.5535C>T |
p.D1845= |
Synonymous |
24/31 |
- |
1 |
12-116413380-CA-GT |
c.5527_5528delinsAC |
p.C1843T |
Missense |
24/31 |
- |
1 |
12-116413391-A-C |
c.5517T>G |
p.L1839= |
Synonymous |
24/31 |
- |
1 |
12-116413391-A-G |
c.5517T>C |
p.L1839= |
Synonymous |
24/31 |
- |
1 |
12-116413391-A-T |
c.5517T>A |
p.L1839= |
Synonymous |
24/31 |
- |
1 |
12-116413393-G-A |
c.5515C>T |
p.L1839F |
Missense |
24/31 |
- |
1 |
12-116413394-C-A |
c.5514G>T |
p.W1838C |
Missense |
24/31 |
- |
1 |
12-116413394-C-G |
c.5514G>C |
p.W1838C |
Missense |
24/31 |
- |
1 |
12-116413398-C-T |
c.5510G>A |
p.R1837H |
Missense |
24/31 |
- |
1 |
12-116413399-G-A |
c.5509C>T |
p.R1837C |
Missense |
24/31 |
- |
1 |
12-116413405-C-T |
c.5503G>A |
p.D1835N |
Missense |
24/31 |
- |
1 |
12-116413406-CG-C |
c.5502del |
p.H1834Qfs*18 |
Frameshift |
24/31 |
- |
1 |
12-116413406-G-A |
c.5502C>T |
p.H1834= |
Synonymous |
24/31 |
- |
1 |
12-116413408-G-T |
c.5500C>A |
p.H1834N |
Missense |
24/31 |
- |
1 |
12-116413416-C-T |
c.5492G>A |
p.C1831Y |
Missense |
24/31 |
- |
1 |
12-116413426-C-A |
c.5482G>T |
p.V1828L |
Missense |
24/31 |
- |
3 |
12-116413426-C-G |
c.5482G>C |
p.V1828L |
Missense |
24/31 |
- |
1 |
12-116413426-C-T |
c.5482G>A |
p.V1828M |
Missense |
24/31 |
- |
2 |
12-116413427-G-A |
c.5481C>T |
p.F1827= |
Synonymous |
24/31 |
- |
3 |
12-116413431-A-G |
c.5477T>C |
p.L1826P |
Missense |
24/31 |
- |
1 |
12-116413434-A-C |
c.5474T>G |
p.V1825G |
Missense |
24/31 |
- |
1 |
12-116413437-T-C |
c.5471A>G |
p.N1824S |
Missense |
24/31 |
- |
1 |
12-116413451-C-T |
c.5457G>A |
p.A1819= |
Synonymous |
24/31 |
- |
1 |
12-116413452-G-A |
c.5456C>T |
p.A1819V |
Missense |
24/31 |
- |
9 |
12-116413453-CCT-C |
c.5453_5454del |
p.E1818Gfs*27 |
Frameshift |
24/31 |
- |
3 |
12-116413458-C-A |
c.5450G>T |
p.G1817V |
Missense |
24/31 |
- |
3 |
12-116413458-C-T |
c.5450G>A |
p.G1817D |
Missense |
24/31 |
- |
2 |
12-116413463-C-A |
c.5445G>T |
p.T1815= |
Synonymous |
24/31 |
- |
2 |
12-116413463-C-G |
c.5445G>C |
p.T1815= |
Synonymous |
24/31 |
- |
1 |
12-116413463-C-T |
c.5445G>A |
p.T1815= |
Synonymous |
24/31 |
- |
2 |
12-116413464-G-A |
c.5444C>T |
p.T1815M |
Missense |
24/31 |
- |
1 |
12-116413475-C-A |
c.5433G>T |
p.E1811D |
Missense |
24/31 |
- |
1 |
12-116413475-C-G |
c.5433G>C |
p.E1811D |
Missense |
24/31 |
- |
1 |
12-116413478-TG-CA |
c.5429_5430inv |
p.T1810M |
Missense |
24/31 |
- |
1 |
12-116413488-T-C |
c.5420A>G |
p.D1807G |
Missense |
24/31 |
- |
2 |
12-116413495-T-C |
c.5413A>G |
p.I1805V |
Missense |
24/31 |
- |
1 |
12-116413507-T-C |
c.5401A>G |
p.I1801V |
Missense |
24/31 |
- |
1 |
12-116413513-G-A |
c.5395C>T |
p.P1799S |
Missense |
24/31 |
- |
3 |
12-116413521-T-C |
c.5387A>G |
p.Y1796C |
Missense |
24/31 |
- |
1 |
12-116413527-T-C |
c.5381A>G |
p.Q1794R |
Missense |
24/31 |
- |
1 |
12-116413528-G-C |
c.5380C>G |
p.Q1794E |
Missense |
24/31 |
- |
1 |
12-116413530-A-T |
c.5378T>A |
p.I1793N |
Missense |
24/31 |
- |
1 |
12-116413537-T-A |
c.5371A>T |
p.S1791C |
Missense |
24/31 |
- |
1 |
12-116413537-T-C |
c.5371A>G |
p.S1791G |
Missense |
24/31 |
- |
1 |
12-116413540-G-T |
c.5368C>A |
p.P1790T |
Missense |
24/31 |
- |
1 |
12-116413542-C-T |
c.5366G>A |
p.R1789Q |
Missense |
24/31 |
- |
1 |
12-116413543-G-A |
c.5365C>T |
p.R1789W |
Missense |
24/31 |
- |
2 |
12-116413653-G-A |
c.5365-110C>T |
- |
IntronicSNV |
- |
23/30 |
1 |
12-116413653-G-T |
c.5365-110C>A |
- |
IntronicSNV |
- |
23/30 |
1 |
12-116416405-T-C |
c.5364+2150A>G |
- |
IntronicSNV |
- |
23/30 |
1 |
12-116416407-T-C |
c.5364+2148A>G |
- |
IntronicSNV |
- |
23/30 |
1 |
12-116418373-T-C |
c.5364+182A>G |
- |
IntronicSNV |
- |
23/30 |
1 |
12-116418554-C-A |
c.5364+1G>T |
- |
IntronicSNV |
- |
23/30 |
2 |
12-116418553-A-AC |
c.5364+1dup |
- |
SpliceDonorInsertion |
23/31 |
- |
5 |
12-116418557-C-A |
c.5362G>T |
p.E1788* |
Nonsense |
23/31 |
- |
1 |
12-116418557-C-T |
c.5362G>A |
p.E1788K |
Missense |
23/31 |
- |
1 |
12-116418561-GTTC-G |
c.5355_5357del |
p.K1785del |
InFrameDeletion |
23/31 |
- |
1 |
12-116418564-C-A |
c.5355G>T |
p.K1785N |
Missense |
23/31 |
- |
1 |
12-116418564-C-G |
c.5355G>C |
p.K1785N |
Missense |
23/31 |
- |
1 |
12-116418565-T-C |
c.5354A>G |
p.K1785R |
Missense |
23/31 |
- |
1 |
12-116418566-T-G |
c.5353A>C |
p.K1785Q |
Missense |
23/31 |
- |
1 |
12-116418569-G-A |
c.5350C>T |
p.L1784F |
Missense |
23/31 |
- |
1 |
12-116418570-G-T |
c.5349C>A |
p.T1783= |
Synonymous |
23/31 |
- |
1 |
12-116418589-G-A |
c.5330C>T |
p.A1777V |
Missense |
23/31 |
- |
2 |
12-116418598-A-G |
c.5321T>C |
p.F1774S |
Missense |
23/31 |
- |
1 |
12-116418602-C-A |
c.5317G>T |
p.G1773* |
Nonsense |
23/31 |
- |
1 |
12-116418604-G-A |
c.5315C>T |
p.T1772M |
Missense |
23/31 |
- |
4 |
12-116418609-G-A |
c.5310C>T |
p.S1770= |
Synonymous |
23/31 |
- |
1 |
12-116418609-G-C |
c.5310C>G |
p.S1770= |
Synonymous |
23/31 |
- |
1 |
12-116418609-G-T |
c.5310C>A |
p.S1770= |
Synonymous |
23/31 |
- |
1 |
12-116418611-A-G |
c.5308T>C |
p.S1770P |
Missense |
23/31 |
- |
1 |
12-116418612-T-C |
c.5307A>G |
p.K1769= |
Synonymous |
23/31 |
- |
1 |
12-116418613-T-G |
c.5306A>C |
p.K1769T |
Missense |
23/31 |
- |
3 |
12-116418637-G-A |
c.5282C>T |
p.P1761L |
Missense |
23/31 |
- |
2 |
12-116418640-C-T |
c.5279G>A |
p.R1760Q |
Missense |
23/31 |
- |
3 |
12-116418641-G-A |
c.5278C>T |
p.R1760* |
Nonsense |
23/31 |
- |
6 |
12-116418642-C-A |
c.5277G>T |
p.R1759S |
Missense |
23/31 |
- |
1 |
12-116418642-C-G |
c.5277G>C |
p.R1759S |
Missense |
23/31 |
- |
1 |
12-116418643-CT-TG |
c.5275_5276delinsCA |
p.R1759Q |
Missense |
23/31 |
- |
1 |
12-116418645-G-A |
c.5274C>T |
p.C1758= |
Synonymous |
23/31 |
- |
1 |
12-116418645-G-C |
c.5274C>G |
p.C1758W |
Missense |
23/31 |
- |
1 |
12-116418646-C-G |
c.5273G>C |
p.C1758S |
Missense |
23/31 |
- |
1 |
12-116418647-A-T |
c.5272T>A |
p.C1758S |
Missense |
23/31 |
- |
1 |
12-116418648-ACTGGC-A |
c.5267_5271del |
p.C1756Lfs*12 |
Frameshift |
23/31 |
- |
1 |
12-116418649-T-C |
c.5270A>G |
p.Q1757R |
Missense |
23/31 |
- |
1 |
12-116418654-G-A |
c.5265C>T |
p.Y1755= |
Synonymous |
23/31 |
- |
1 |
12-116418656-TA-T |
c.5263del |
p.Y1755Tfs*28 |
Frameshift |
23/31 |
- |
1 |
12-116418659-C-A |
c.5260G>T |
p.V1754L |
Missense |
23/31 |
- |
1 |
12-116418659-C-G |
c.5260G>C |
p.V1754L |
Missense |
23/31 |
- |
1 |
12-116418660-T-TAAAAAA |
c.5258_5259insTTTTTT |
p.S1753_V1754insFL |
InFrameInsertion |
23/31 |
- |
1 |
12-116418661-G-A |
c.5258C>T |
p.S1753L |
Missense |
23/31 |
- |
1 |
12-116418666-T-C |
c.5253A>G |
p.A1751= |
Synonymous |
23/31 |
- |
1 |
12-116418667-G-A |
c.5252C>T |
p.A1751V |
Missense |
23/31 |
- |
1 |
12-116418681-G-C |
c.5238C>G |
p.Y1746* |
Nonsense |
23/31 |
- |
1 |
12-116418681-G-T |
c.5238C>A |
p.Y1746* |
Nonsense |
23/31 |
- |
1 |
12-116418689-T-A |
c.5230A>T |
p.I1744F |
Missense |
23/31 |
- |
1 |
12-116418691-T-C |
c.5228A>G |
p.Y1743C |
Missense |
23/31 |
- |
1 |
12-116418699-T-C |
c.5220A>G |
p.Q1740= |
Synonymous |
23/31 |
- |
1 |
12-116418706-T-TC |
c.5212dup |
p.D1738Gfs*2 |
Frameshift |
23/31 |
- |
1 |
12-116418709-T-C |
c.5210A>G |
p.K1737R |
Missense |
23/31 |
- |
1 |
12-116418713-T-C |
c.5206A>G |
p.M1736V |
Missense |
23/31 |
- |
2 |
12-116418718-T-G |
c.5201A>C |
p.Q1734P |
Missense |
23/31 |
- |
1 |
12-116418721-A-G |
c.5198T>C |
p.L1733P |
Missense |
23/31 |
- |
1 |
12-116418729-C-A |
c.5190G>T |
p.Q1730H |
Missense |
23/31 |
- |
1 |
12-116418729-C-G |
c.5190G>C |
p.Q1730H |
Missense |
23/31 |
- |
1 |
12-116418730-T-C |
c.5189A>G |
p.Q1730R |
Missense |
23/31 |
- |
1 |
12-116418732-G-T |
c.5187C>A |
p.C1729* |
Nonsense |
23/31 |
- |
1 |
12-116418733-C-T |
c.5186G>A |
p.C1729Y |
Missense |
23/31 |
- |
1 |
12-116418740-C-A |
c.5179G>T |
p.V1727L |
Missense |
23/31 |
- |
1 |
12-116418740-C-G |
c.5179G>C |
p.V1727L |
Missense |
23/31 |
- |
1 |
12-116418743-T-C |
c.5176A>G |
p.I1726V |
Missense |
23/31 |
- |
1 |
12-116420188-C-T |
c.5175+1G>A |
- |
IntronicSNV |
- |
22/30 |
4 |
12-116420189-C-A |
c.5175G>T |
p.Q1725H |
Missense |
22/31 |
- |
3 |
12-116420189-C-G |
c.5175G>C |
p.Q1725H |
Missense |
22/31 |
- |
1 |
12-116420191-G-A |
c.5173C>T |
p.Q1725* |
Nonsense |
22/31 |
- |
2 |
12-116420192-G-A |
c.5172C>T |
p.L1724= |
Synonymous |
22/31 |
- |
1 |
12-116420194-G-A |
c.5170C>T |
p.L1724F |
Missense |
22/31 |
- |
2 |
12-116420194-G-C |
c.5170C>G |
p.L1724V |
Missense |
22/31 |
- |
1 |
12-116420197-T-G |
c.5167A>C |
p.I1723L |
Missense |
22/31 |
- |
1 |
12-116420198-G-C |
c.5166C>G |
p.F1722L |
Missense |
22/31 |
- |
1 |
12-116420198-G-T |
c.5166C>A |
p.F1722L |
Missense |
22/31 |
- |
1 |
12-116420200-A-G |
c.5164T>C |
p.F1722L |
Missense |
22/31 |
- |
1 |
12-116420202-G-A |
c.5162C>T |
p.S1721F |
Missense |
22/31 |
- |
2 |
12-116420202-G-T |
c.5162C>A |
p.S1721Y |
Missense |
22/31 |
- |
1 |
12-116420211-A-G |
c.5153T>C |
p.M1718T |
Missense |
22/31 |
- |
1 |
12-116420219-A-C |
c.5145T>G |
p.P1715= |
Synonymous |
22/31 |
- |
1 |
12-116420219-A-G |
c.5145T>C |
p.P1715= |
Synonymous |
22/31 |
- |
1 |
12-116420219-A-T |
c.5145T>A |
p.P1715= |
Synonymous |
22/31 |
- |
1 |
12-116420230-C-T |
c.5134G>A |
p.D1712N |
Missense |
22/31 |
- |
1 |
12-116420233-G-C |
c.5131C>G |
p.L1711V |
Missense |
22/31 |
- |
1 |
12-116420239-C-T |
c.5125G>A |
p.E1709K |
Missense |
22/31 |
- |
4 |
12-116420244-T-C |
c.5120A>G |
p.Y1707C |
Missense |
22/31 |
- |
1 |
12-116420250-C-A |
c.5114G>T |
p.R1705L |
Missense |
22/31 |
- |
1 |
12-116420250-C-T |
c.5114G>A |
p.R1705H |
Missense |
22/31 |
- |
4 |
12-116420251-G-A |
c.5113C>T |
p.R1705C |
Missense |
22/31 |
- |
1 |
12-116420252-C-T |
c.5112G>A |
p.M1704I |
Missense |
22/31 |
- |
1 |
12-116420254-T-C |
c.5110A>G |
p.M1704V |
Missense |
22/31 |
- |
2 |
12-116420258-G-T |
c.5106C>A |
p.S1702R |
Missense |
22/31 |
- |
1 |
12-116420268-C-A |
c.5096G>T |
p.W1699L |
Missense |
22/31 |
- |
2 |
12-116420274-T-C |
c.5090A>G |
p.N1697S |
Missense |
22/31 |
- |
1 |
12-116420281-A-G |
c.5083T>C |
p.S1695P |
Missense |
22/31 |
- |
1 |
12-116420280-G-GA |
c.5083dup |
p.S1695Ffs*19 |
Frameshift |
22/31 |
- |
3 |
12-116420283-G-A |
c.5081C>T |
p.T1694I |
Missense |
22/31 |
- |
1 |
12-116420283-G-C |
c.5081C>G |
p.T1694S |
Missense |
22/31 |
- |
1 |
12-116420288-GTCC-G |
c.5073_5075del |
p.E1691del |
InFrameDeletion |
22/31 |
- |
2 |
12-116420296-C-A |
c.5068G>T |
p.E1690* |
Nonsense |
22/31 |
- |
1 |
12-116420308-T-C |
c.5056A>G |
p.T1686A |
Missense |
22/31 |
- |
1 |
12-116420312-C-A |
c.5052G>T |
p.P1684= |
Synonymous |
22/31 |
- |
1 |
12-116420312-C-G |
c.5052G>C |
p.P1684= |
Synonymous |
22/31 |
- |
1 |
12-116420312-C-T |
c.5052G>A |
p.P1684= |
Synonymous |
22/31 |
- |
1 |
12-116420313-G-A |
c.5051C>T |
p.P1684L |
Missense |
22/31 |
- |
1 |
12-116420315-G-A |
c.5049C>T |
p.D1683= |
Synonymous |
22/31 |
- |
1 |
12-116420317-C-A |
c.5047G>T |
p.D1683Y |
Missense |
22/31 |
- |
1 |
12-116420317-C-T |
c.5047G>A |
p.D1683N |
Missense |
22/31 |
- |
1 |
12-116420329-T-C |
c.5035A>G |
p.I1679V |
Missense |
22/31 |
- |
1 |
12-116420331-A-T |
c.5033T>A |
p.V1678D |
Missense |
22/31 |
- |
2 |
12-116420341-G-A |
c.5023C>T |
p.P1675S |
Missense |
22/31 |
- |
1 |
12-116420341-G-C |
c.5023C>G |
p.P1675A |
Missense |
22/31 |
- |
2 |
12-116420343-G-A |
c.5021C>T |
p.P1674L |
Missense |
22/31 |
- |
3 |
12-116420344-G-A |
c.5020C>T |
p.P1674S |
Missense |
22/31 |
- |
1 |
12-116420349-G-A |
c.5015C>T |
p.A1672V |
Missense |
22/31 |
- |
1 |
12-116420352-T-C |
c.5012A>G |
p.H1671R |
Missense |
22/31 |
- |
1 |
12-116420357-G-A |
c.5007C>T |
p.D1669= |
Synonymous |
22/31 |
- |
1 |
12-116420363-A-C |
c.5001T>G |
p.S1667= |
Synonymous |
22/31 |
- |
1 |
12-116420369-A-C |
c.4995T>G |
p.P1665= |
Synonymous |
22/31 |
- |
1 |
12-116420369-A-G |
c.4995T>C |
p.P1665= |
Synonymous |
22/31 |
- |
2 |
12-116420369-A-T |
c.4995T>A |
p.P1665= |
Synonymous |
22/31 |
- |
1 |
12-116420372-C-G |
c.4992G>C |
p.E1664D |
Missense |
22/31 |
- |
1 |
12-116420374-C-T |
c.4990G>A |
p.E1664K |
Missense |
22/31 |
- |
1 |
12-116420392-T-A |
c.4972A>T |
p.R1658* |
Nonsense |
22/31 |
- |
1 |
12-116420396-C-A |
c.4968G>T |
p.R1656S |
Missense |
22/31 |
- |
4 |
12-116420396-C-G |
c.4968G>C |
p.R1656S |
Missense |
22/31 |
- |
2 |
12-116420398-T-C |
c.4966A>G |
p.R1656G |
Missense |
22/31 |
- |
1 |
12-116420401-TC-T |
c.4963del |
p.E1655Kfs*5 |
Frameshift |
22/31 |
- |
1 |
12-116420403-G-A |
c.4961C>T |
p.T1654I |
Missense |
22/31 |
- |
1 |
12-116420407-C-T |
c.4957G>A |
p.V1653I |
Missense |
22/31 |
- |
2 |
12-116420448-T-C |
c.4956-40A>G |
- |
IntronicSNV |
- |
21/30 |
7 |
12-116420924-C-A |
c.4953G>T |
p.E1651D |
Missense |
21/31 |
- |
5 |
12-116420924-C-G |
c.4953G>C |
p.E1651D |
Missense |
21/31 |
- |
3 |
12-116420924-C-T |
c.4953G>A |
p.E1651= |
Synonymous |
21/31 |
- |
2 |
12-116420926-C-G |
c.4951G>C |
p.E1651Q |
Missense |
21/31 |
- |
1 |
12-116420928-T-C |
c.4949A>G |
p.Q1650R |
Missense |
21/31 |
- |
1 |
12-116420929-G-T |
c.4948C>A |
p.Q1650K |
Missense |
21/31 |
- |
1 |
12-116420932-C-T |
c.4945G>A |
p.G1649R |
Missense |
21/31 |
- |
1 |
12-116420933-A-T |
c.4944T>A |
p.D1648E |
Missense |
21/31 |
- |
1 |
12-116420934-T-A |
c.4943A>T |
p.D1648V |
Missense |
21/31 |
- |
1 |
12-116420935-C-T |
c.4942G>A |
p.D1648N |
Missense |
21/31 |
- |
2 |
12-116420938-G-T |
c.4939C>A |
p.Q1647K |
Missense |
21/31 |
- |
1 |
12-116420941-A-G |
c.4936T>C |
p.S1646P |
Missense |
21/31 |
- |
3 |
12-116420942-G-A |
c.4935C>T |
p.P1645= |
Synonymous |
21/31 |
- |
2 |
12-116420944-G-A |
c.4933C>T |
p.P1645S |
Missense |
21/31 |
- |
1 |
12-116420947-G-T |
c.4930C>A |
p.Q1644K |
Missense |
21/31 |
- |
1 |
12-116420949-G-T |
c.4928C>A |
p.S1643Y |
Missense |
21/31 |
- |
1 |
12-116420954-G-A |
c.4923C>T |
p.S1641= |
Synonymous |
21/31 |
- |
1 |
12-116420955-C-T |
c.4922G>A |
p.S1641N |
Missense |
21/31 |
- |
1 |
12-116420961-C-T |
c.4916G>A |
p.G1639E |
Missense |
21/31 |
- |
1 |
12-116420965-G-A |
c.4912C>T |
p.P1638S |
Missense |
21/31 |
- |
1 |
12-116420966-G-A |
c.4911C>T |
p.D1637= |
Synonymous |
21/31 |
- |
1 |
12-116420968-C-A |
c.4909G>T |
p.D1637Y |
Missense |
21/31 |
- |
2 |
12-116420968-C-T |
c.4909G>A |
p.D1637N |
Missense |
21/31 |
- |
1 |
12-116420970-G-T |
c.4907C>A |
p.T1636N |
Missense |
21/31 |
- |
1 |
12-116420971-T-C |
c.4906A>G |
p.T1636A |
Missense |
21/31 |
- |
1 |
12-116420972-G-C |
c.4905C>G |
p.D1635E |
Missense |
21/31 |
- |
1 |
12-116420984-GC-G |
c.4892del |
p.G1631Afs*29 |
Frameshift |
21/31 |
- |
1 |
12-116420988-A-G |
c.4889T>C |
p.I1630T |
Missense |
21/31 |
- |
1 |
12-116421000-G-T |
c.4877C>A |
p.T1626K |
Missense |
21/31 |
- |
1 |
12-116421003-C-T |
c.4874G>A |
p.R1625K |
Missense |
21/31 |
- |
1 |
12-116421007-C-A |
c.4870G>T |
p.D1624Y |
Missense |
21/31 |
- |
6 |
12-116421008-C-A |
c.4869G>T |
p.A1623= |
Synonymous |
21/31 |
- |
1 |
12-116421008-C-G |
c.4869G>C |
p.A1623= |
Synonymous |
21/31 |
- |
1 |
12-116421008-C-T |
c.4869G>A |
p.A1623= |
Synonymous |
21/31 |
- |
1 |
12-116421009-G-A |
c.4868C>T |
p.A1623V |
Missense |
21/31 |
- |
3 |
12-116421012-G-C |
c.4865C>G |
p.S1622C |
Missense |
21/31 |
- |
1 |
12-116421018-C-A |
c.4859G>T |
p.G1620V |
Missense |
21/31 |
- |
1 |
12-116421018-C-T |
c.4859G>A |
p.G1620D |
Missense |
21/31 |
- |
3 |
12-116421021-C-G |
c.4856G>C |
p.G1619A |
Missense |
21/31 |
- |
1 |
12-116421022-C-A |
c.4855G>T |
p.G1619W |
Missense |
21/31 |
- |
1 |
12-116421024-G-C |
c.4853C>G |
p.T1618S |
Missense |
21/31 |
- |
2 |
12-116421027-C-T |
c.4850G>A |
p.S1617N |
Missense |
21/31 |
- |
1 |
12-116421028-T-A |
c.4849A>T |
p.S1617C |
Missense |
21/31 |
- |
1 |
12-116421037-G-A |
c.4840C>T |
p.Q1614* |
Nonsense |
21/31 |
- |
5 |
12-116421039-C-G |
c.4838G>C |
p.G1613A |
Missense |
21/31 |
- |
2 |
12-116421042-C-A |
c.4835G>T |
p.G1612V |
Missense |
21/31 |
- |
1 |
12-116421046-C-G |
c.4831G>C |
p.V1611L |
Missense |
21/31 |
- |
1 |
12-116421051-C-G |
c.4826G>C |
p.G1609A |
Missense |
21/31 |
- |
1 |
12-116421056-G-T |
c.4821C>A |
p.F1607L |
Missense |
21/31 |
- |
1 |
12-116421066-G-A |
c.4811C>T |
p.S1604F |
Missense |
21/31 |
- |
5 |
12-116421066-G-C |
c.4811C>G |
p.S1604C |
Missense |
21/31 |
- |
1 |
12-116421067-A-G |
c.4810T>C |
p.S1604P |
Missense |
21/31 |
- |
1 |
12-116421073-T-G |
c.4804A>C |
p.T1602P |
Missense |
21/31 |
- |
1 |
12-116421083-C-A |
c.4794G>T |
p.Q1598H |
Missense |
21/31 |
- |
2 |
12-116421083-C-G |
c.4794G>C |
p.Q1598H |
Missense |
21/31 |
- |
2 |
12-116421088-T-A |
c.4789A>T |
p.S1597C |
Missense |
21/31 |
- |
1 |
12-116421090-A-G |
c.4787T>C |
p.I1596T |
Missense |
21/31 |
- |
1 |
12-116421091-T-C |
c.4786A>G |
p.I1596V |
Missense |
21/31 |
- |
3 |
12-116421093-C-T |
c.4784G>A |
p.G1595D |
Missense |
21/31 |
- |
1 |
12-116421096-G-A |
c.4781C>T |
p.P1594L |
Missense |
21/31 |
- |
5 |
12-116421097-G-A |
c.4780C>T |
p.P1594S |
Missense |
21/31 |
- |
1 |
12-116421102-G-A |
c.4775C>T |
p.S1592F |
Missense |
21/31 |
- |
1 |
12-116421106-C-A |
c.4771G>T |
p.A1591S |
Missense |
21/31 |
- |
1 |
12-116421106-C-T |
c.4771G>A |
p.A1591T |
Missense |
21/31 |
- |
1 |
12-116421111-G-A |
c.4766C>T |
p.S1589L |
Missense |
21/31 |
- |
1 |
12-116421116-G-A |
c.4761C>T |
p.V1587= |
Synonymous |
21/31 |
- |
2 |
12-116421118-C-CTG |
c.4758_4759insCA |
p.V1587Qfs*14 |
Frameshift |
21/31 |
- |
1 |
12-116421119-C-A |
c.4758G>T |
p.P1586= |
Synonymous |
21/31 |
- |
1 |
12-116421119-C-G |
c.4758G>C |
p.P1586= |
Synonymous |
21/31 |
- |
1 |
12-116421119-C-T |
c.4758G>A |
p.P1586= |
Synonymous |
21/31 |
- |
1 |
12-116421123-G-T |
c.4754C>A |
p.P1585Q |
Missense |
21/31 |
- |
1 |
12-116421132-G-A |
c.4745C>T |
p.S1582F |
Missense |
21/31 |
- |
1 |
12-116421133-A-T |
c.4744T>A |
p.S1582T |
Missense |
21/31 |
- |
1 |
12-116421144-G-A |
c.4733C>T |
p.S1578F |
Missense |
21/31 |
- |
2 |
12-116421144-G-C |
c.4733C>G |
p.S1578C |
Missense |
21/31 |
- |
1 |
12-116421147-C-T |
c.4730G>A |
p.S1577N |
Missense |
21/31 |
- |
4 |
12-116421156-G-A |
c.4721C>T |
p.A1574V |
Missense |
21/31 |
- |
1 |
12-116421159-G-A |
c.4718C>T |
p.P1573L |
Missense |
21/31 |
- |
1 |
12-116421160-G-T |
c.4717C>A |
p.P1573T |
Missense |
21/31 |
- |
1 |
12-116421166-T-C |
c.4711A>G |
p.T1571A |
Missense |
21/31 |
- |
1 |
12-116421167-A-C |
c.4710T>G |
p.S1570= |
Synonymous |
21/31 |
- |
1 |
12-116421167-A-G |
c.4710T>C |
p.S1570= |
Synonymous |
21/31 |
- |
1 |
12-116421167-A-T |
c.4710T>A |
p.S1570= |
Synonymous |
21/31 |
- |
1 |
12-116421168-G-A |
c.4709C>T |
p.S1570F |
Missense |
21/31 |
- |
3 |
12-116421168-GA-AT |
c.4708_4709delinsAT |
p.S1570I |
Missense |
21/31 |
- |
1 |
12-116421169-A-T |
c.4708T>A |
p.S1570T |
Missense |
21/31 |
- |
1 |
12-116421180-G-A |
c.4697C>T |
p.S1566L |
Missense |
21/31 |
- |
4 |
12-116421184-T-G |
c.4693A>C |
p.T1565P |
Missense |
21/31 |
- |
1 |
12-116421186-G-A |
c.4691C>T |
p.P1564L |
Missense |
21/31 |
- |
3 |
12-116421192-A-C |
c.4685T>G |
p.F1562C |
Missense |
21/31 |
- |
1 |
12-116421196-C-T |
c.4681G>A |
p.A1561T |
Missense |
21/31 |
- |
1 |
12-116421198-CT-AG |
c.4678_4679inv |
p.S1560L |
Missense |
21/31 |
- |
1 |
12-116421204-G-A |
c.4673C>T |
p.A1558V |
Missense |
21/31 |
- |
3 |
12-116421207-G-A |
c.4670C>T |
p.P1557L |
Missense |
21/31 |
- |
1 |
12-116421207-G-C |
c.4670C>G |
p.P1557R |
Missense |
21/31 |
- |
1 |
12-116421210-G-A |
c.4667C>T |
p.P1556L |
Missense |
21/31 |
- |
1 |
12-116421206-T-TG |
c.4670dup |
p.A1558Sfs*6 |
Frameshift |
21/31 |
- |
1 |
12-116421211-G-A |
c.4666C>T |
p.P1556S |
Missense |
21/31 |
- |
1 |
12-116421211-G-T |
c.4666C>A |
p.P1556T |
Missense |
21/31 |
- |
1 |
12-116421214-C-T |
c.4663G>A |
p.A1555T |
Missense |
21/31 |
- |
2 |
12-116421217-C-T |
c.4660G>A |
p.A1554T |
Missense |
21/31 |
- |
2 |
12-116421221-TCC-ACA |
c.4654_4656delinsTGT |
p.G1552C |
Missense |
21/31 |
- |
1 |
12-116421222-C-A |
c.4655G>T |
p.G1552V |
Missense |
21/31 |
- |
1 |
12-116421223-C-T |
c.4654G>A |
p.G1552R |
Missense |
21/31 |
- |
1 |
12-116421225-T-A |
c.4652A>T |
p.N1551I |
Missense |
21/31 |
- |
2 |
12-116421225-T-C |
c.4652A>G |
p.N1551S |
Missense |
21/31 |
- |
2 |
12-116421228-G-T |
c.4649C>A |
p.P1550Q |
Missense |
21/31 |
- |
1 |
12-116421231-G-C |
c.4646C>G |
p.A1549G |
Missense |
21/31 |
- |
1 |
12-116421237-G-A |
c.4640C>T |
p.P1547L |
Missense |
21/31 |
- |
1 |
12-116421243-G-A |
c.4634C>T |
p.A1545V |
Missense |
21/31 |
- |
1 |
12-116421244-C-G |
c.4633G>C |
p.A1545P |
Missense |
21/31 |
- |
1 |
12-116421246-T-A |
c.4631A>T |
p.N1544I |
Missense |
21/31 |
- |
1 |
12-116421249-C-A |
c.4628G>T |
p.G1543V |
Missense |
21/31 |
- |
1 |
12-116421255-G-A |
c.4622C>T |
p.T1541M |
Missense |
21/31 |
- |
4 |
12-116421256-T-C |
c.4621A>G |
p.T1541A |
Missense |
21/31 |
- |
1 |
12-116421256-T-G |
c.4621A>C |
p.T1541P |
Missense |
21/31 |
- |
1 |
12-116421264-C-T |
c.4613G>A |
p.G1538E |
Missense |
21/31 |
- |
1 |
12-116421266-C-A |
c.4611G>T |
p.Q1537H |
Missense |
21/31 |
- |
1 |
12-116421266-C-G |
c.4611G>C |
p.Q1537H |
Missense |
21/31 |
- |
1 |
12-116421270-G-A |
c.4607C>T |
p.A1536V |
Missense |
21/31 |
- |
1 |
12-116421276-G-A |
c.4601C>T |
p.A1534V |
Missense |
21/31 |
- |
1 |
12-116421279-G-A |
c.4598C>T |
p.P1533L |
Missense |
21/31 |
- |
1 |
12-116421280-G-C |
c.4597C>G |
p.P1533A |
Missense |
21/31 |
- |
2 |
12-116421281-T-A |
c.4596A>T |
p.P1532= |
Synonymous |
21/31 |
- |
1 |
12-116421281-T-C |
c.4596A>G |
p.P1532= |
Synonymous |
21/31 |
- |
1 |
12-116421281-T-G |
c.4596A>C |
p.P1532= |
Synonymous |
21/31 |
- |
1 |
12-116421283-G-A |
c.4594C>T |
p.P1532S |
Missense |
21/31 |
- |
1 |
12-116421284-G-A |
c.4593C>T |
p.T1531= |
Synonymous |
21/31 |
- |
1 |
12-116421284-G-C |
c.4593C>G |
p.T1531= |
Synonymous |
21/31 |
- |
1 |
12-116421284-G-T |
c.4593C>A |
p.T1531= |
Synonymous |
21/31 |
- |
1 |
12-116421281-T-TG |
c.4595dup |
p.P1533Tfs*31 |
Frameshift |
21/31 |
- |
1 |
12-116421286-T-C |
c.4591A>G |
p.T1531A |
Missense |
21/31 |
- |
1 |
12-116421290-G-GT |
c.4586dup |
p.Y1529* |
Nonsense |
21/31 |
- |
2 |
12-116421298-G-A |
c.4579C>T |
p.P1527S |
Missense |
21/31 |
- |
2 |
12-116421299-TG-T |
c.4577del |
p.P1526Hfs*23 |
Frameshift |
21/31 |
- |
3 |
12-116421303-A-G |
c.4574T>C |
p.I1525T |
Missense |
21/31 |
- |
1 |
12-116421304-T-C |
c.4573A>G |
p.I1525V |
Missense |
21/31 |
- |
5 |
12-116421305-C-T |
c.4572G>A |
p.L1524= |
Synonymous |
21/31 |
- |
1 |
12-116421307-A-G |
c.4570T>C |
p.L1524= |
Synonymous |
21/31 |
- |
1 |
12-116421308-T-A |
c.4569A>T |
p.L1523= |
Synonymous |
21/31 |
- |
2 |
12-116421308-T-C |
c.4569A>G |
p.L1523= |
Synonymous |
21/31 |
- |
2 |
12-116421308-T-G |
c.4569A>C |
p.L1523= |
Synonymous |
21/31 |
- |
1 |
12-116421310-G-A |
c.4567C>T |
p.L1523= |
Synonymous |
21/31 |
- |
1 |
12-116421310-G-C |
c.4567C>G |
p.L1523V |
Missense |
21/31 |
- |
1 |
12-116421314-GC-CT |
c.4562_4563delinsAG |
p.S1521K |
Missense |
21/31 |
- |
1 |
12-116421319-C-A |
c.4558G>T |
p.D1520Y |
Missense |
21/31 |
- |
3 |
12-116421322-G-T |
c.4555C>A |
p.L1519I |
Missense |
21/31 |
- |
1 |
12-116421325-G-A |
c.4552C>T |
p.Q1518* |
Nonsense |
21/31 |
- |
3 |
12-116421330-G-C |
c.4547C>G |
p.T1516S |
Missense |
21/31 |
- |
5 |
12-116421331-T-A |
c.4546A>T |
p.T1516S |
Missense |
21/31 |
- |
2 |
12-116421342-G-A |
c.4535C>T |
p.P1512L |
Missense |
21/31 |
- |
1 |
12-116421345-G-A |
c.4532C>T |
p.A1511V |
Missense |
21/31 |
- |
1 |
12-116421918-G-A |
c.4531+67C>T |
- |
IntronicSNV |
- |
20/30 |
1 |
12-116421991-G-A |
c.4525C>T |
p.H1509Y |
Missense |
20/31 |
- |
3 |
12-116421993-T-C |
c.4523A>G |
p.H1508R |
Missense |
20/31 |
- |
1 |
12-116421995-G-A |
c.4521C>T |
p.R1507= |
Synonymous |
20/31 |
- |
1 |
12-116421995-GCG-CCA |
c.4519_4521delinsTGG |
p.R1507W |
Missense |
20/31 |
- |
1 |
12-116421996-C-T |
c.4520G>A |
p.R1507H |
Missense |
20/31 |
- |
1 |
12-116421998-G-T |
c.4518C>A |
p.C1506* |
Nonsense |
20/31 |
- |
1 |
12-116421999-CA-GT |
c.4516_4517delinsAC |
p.C1506T |
Missense |
20/31 |
- |
1 |
12-116422001-A-C |
c.4515T>G |
p.V1505= |
Synonymous |
20/31 |
- |
1 |
12-116422001-A-G |
c.4515T>C |
p.V1505= |
Synonymous |
20/31 |
- |
2 |
12-116422001-A-T |
c.4515T>A |
p.V1505= |
Synonymous |
20/31 |
- |
1 |
12-116422004-T-A |
c.4512A>T |
p.Q1504H |
Missense |
20/31 |
- |
3 |
12-116422004-T-G |
c.4512A>C |
p.Q1504H |
Missense |
20/31 |
- |
4 |
12-116422008-G-A |
c.4508C>T |
p.A1503V |
Missense |
20/31 |
- |
2 |
12-116422012-A-G |
c.4504T>C |
p.Y1502H |
Missense |
20/31 |
- |
1 |
12-116422015-G-A |
c.4501C>T |
p.L1501F |
Missense |
20/31 |
- |
1 |
12-116422018-T-G |
c.4498A>C |
p.K1500Q |
Missense |
20/31 |
- |
1 |
12-116422020-A-G |
c.4496T>C |
p.L1499P |
Missense |
20/31 |
- |
1 |
12-116422026-G-A |
c.4490C>T |
p.S1497F |
Missense |
20/31 |
- |
1 |
12-116422026-G-GA |
c.4489dup |
p.S1497Ffs*24 |
Frameshift |
20/31 |
- |
1 |
12-116422035-T-C |
c.4481A>G |
p.D1494G |
Missense |
20/31 |
- |
1 |
12-116422043-C-T |
c.4473G>A |
p.E1491= |
Synonymous |
20/31 |
- |
1 |
12-116422048-C-T |
c.4468G>A |
p.G1490S |
Missense |
20/31 |
- |
2 |
12-116422052-C-G |
c.4464G>C |
p.W1488C |
Missense |
20/31 |
- |
1 |
12-116422057-G-A |
c.4459C>T |
p.P1487S |
Missense |
20/31 |
- |
1 |
12-116422057-G-T |
c.4459C>A |
p.P1487T |
Missense |
20/31 |
- |
1 |
12-116422060-G-A |
c.4456C>T |
p.Q1486* |
Nonsense |
20/31 |
- |
1 |
12-116422062-T-C |
c.4454A>G |
p.N1485S |
Missense |
20/31 |
- |
1 |
12-116422063-TA-T |
c.4452del |
p.F1484Lfs*27 |
Frameshift |
20/31 |
- |
1 |
12-116422074-C-T |
c.4442G>A |
p.S1481N |
Missense |
20/31 |
- |
1 |
12-116422079-A-C |
c.4437T>G |
p.L1479= |
Synonymous |
20/31 |
- |
1 |
12-116422079-A-G |
c.4437T>C |
p.L1479= |
Synonymous |
20/31 |
- |
1 |
12-116422079-A-T |
c.4437T>A |
p.L1479= |
Synonymous |
20/31 |
- |
2 |
12-116422083-T-C |
c.4433A>G |
p.E1478G |
Missense |
20/31 |
- |
1 |
12-116422086-T-G |
c.4430A>C |
p.D1477A |
Missense |
20/31 |
- |
1 |
12-116422087-C-G |
c.4429G>C |
p.D1477H |
Missense |
20/31 |
- |
2 |
12-116422094-C-A |
c.4422G>T |
p.K1474N |
Missense |
20/31 |
- |
1 |
12-116422096-T-A |
c.4420A>T |
p.K1474* |
Nonsense |
20/31 |
- |
4 |
12-116422103-C-A |
c.4413G>T |
p.V1471= |
Synonymous |
20/31 |
- |
1 |
12-116422103-C-G |
c.4413G>C |
p.V1471= |
Synonymous |
20/31 |
- |
1 |
12-116422103-C-T |
c.4413G>A |
p.V1471= |
Synonymous |
20/31 |
- |
1 |
12-116422105-C-T |
c.4411G>A |
p.V1471M |
Missense |
20/31 |
- |
1 |
12-116422108-T-A |
c.4408A>T |
p.T1470S |
Missense |
20/31 |
- |
1 |
12-116422110-T-C |
c.4406A>G |
p.K1469R |
Missense |
20/31 |
- |
1 |
12-116422114-C-A |
c.4402G>T |
p.G1468* |
Nonsense |
20/31 |
- |
2 |
12-116422112-T-TC |
c.4403dup |
p.T1470Nfs*9 |
Frameshift |
20/31 |
- |
3 |
12-116422116-A-G |
c.4400T>C |
p.V1467A |
Missense |
20/31 |
- |
1 |
12-116422117-C-T |
c.4399G>A |
p.V1467M |
Missense |
20/31 |
- |
3 |
12-116422118-G-A |
c.4398C>T |
p.R1466= |
Synonymous |
20/31 |
- |
2 |
12-116422118-G-C |
c.4398C>G |
p.R1466= |
Synonymous |
20/31 |
- |
1 |
12-116422118-G-T |
c.4398C>A |
p.R1466= |
Synonymous |
20/31 |
- |
1 |
12-116422119-C-T |
c.4397G>A |
p.R1466H |
Missense |
20/31 |
- |
3 |
12-116422120-G-A |
c.4396C>T |
p.R1466C |
Missense |
20/31 |
- |
10 |
12-116422121-C-T |
c.4395G>A |
p.M1465I |
Missense |
20/31 |
- |
1 |
12-116422129-C-A |
c.4387G>T |
p.G1463W |
Missense |
20/31 |
- |
1 |
12-116422129-C-G |
c.4387G>C |
p.G1463R |
Missense |
20/31 |
- |
2 |
12-116422129-C-T |
c.4387G>A |
p.G1463R |
Missense |
20/31 |
- |
5 |
12-116422130-G-A |
c.4386C>T |
p.D1462= |
Synonymous |
20/31 |
- |
2 |
12-116422133-A-C |
c.4383T>G |
p.R1461= |
Synonymous |
20/31 |
- |
3 |
12-116422133-A-G |
c.4383T>C |
p.R1461= |
Synonymous |
20/31 |
- |
1 |
12-116422133-A-T |
c.4383T>A |
p.R1461= |
Synonymous |
20/31 |
- |
1 |
12-116422134-C-T |
c.4382G>A |
p.R1461H |
Missense |
20/31 |
- |
1 |
12-116422135-G-A |
c.4381C>T |
p.R1461C |
Missense |
20/31 |
- |
1 |
12-116422146-C-T |
c.4370G>A |
p.C1457Y |
Missense |
20/31 |
- |
1 |
12-116422148-G-A |
c.4368C>T |
p.I1456= |
Synonymous |
20/31 |
- |
1 |
12-116422153-G-A |
c.4363C>T |
p.P1455S |
Missense |
20/31 |
- |
1 |
12-116422153-G-C |
c.4363C>G |
p.P1455A |
Missense |
20/31 |
- |
1 |
12-116422158-T-C |
c.4358A>G |
p.H1453R |
Missense |
20/31 |
- |
2 |
12-116422159-G-C |
c.4357C>G |
p.H1453D |
Missense |
20/31 |
- |
1 |
12-116422163-C-T |
c.4353G>A |
p.G1451= |
Synonymous |
20/31 |
- |
1 |
12-116422174-A-C |
c.4342T>G |
p.C1448G |
Missense |
20/31 |
- |
1 |
12-116423845-T-C |
c.4338+226A>G |
- |
IntronicSNV |
- |
19/30 |
1 |
12-116424018-A-G |
c.4338+53T>C |
- |
IntronicSNV |
- |
19/30 |
1 |
12-116424079-C-T |
c.4330G>A |
p.V1444I |
Missense |
19/31 |
- |
1 |
12-116424081-G-A |
c.4328C>T |
p.A1443V |
Missense |
19/31 |
- |
1 |
12-116424081-G-T |
c.4328C>A |
p.A1443D |
Missense |
19/31 |
- |
2 |
12-116424083-A-G |
c.4326T>C |
p.S1442= |
Synonymous |
19/31 |
- |
1 |
12-116424084-C-T |
c.4325G>A |
p.S1442N |
Missense |
19/31 |
- |
1 |
12-116424086-C-G |
c.4323G>C |
p.L1441F |
Missense |
19/31 |
- |
1 |
12-116424093-C-A |
c.4316G>T |
p.R1439M |
Missense |
19/31 |
- |
1 |
12-116424093-C-T |
c.4316G>A |
p.R1439K |
Missense |
19/31 |
- |
1 |
12-116424093-CT-TG |
c.4315_4316delinsCA |
p.R1439Q |
Missense |
19/31 |
- |
1 |
12-116424098-AG-A |
c.4311del |
p.F1438Sfs*4 |
Frameshift |
19/31 |
- |
1 |
12-116424098-G-T |
c.4311C>A |
p.F1437L |
Missense |
19/31 |
- |
2 |
12-116424098-G-C |
c.4311C>G |
p.F1437L |
Missense |
19/31 |
- |
1 |
12-116424100-A-G |
c.4309T>C |
p.F1437L |
Missense |
19/31 |
- |
1 |
12-116424102-G-A |
c.4307C>T |
p.T1436I |
Missense |
19/31 |
- |
3 |
12-116424107-G-A |
c.4302C>T |
p.A1434= |
Synonymous |
19/31 |
- |
1 |
12-116424109-C-T |
c.4300G>A |
p.A1434T |
Missense |
19/31 |
- |
1 |
12-116424115-C-T |
c.4294G>A |
p.E1432K |
Missense |
19/31 |
- |
4 |
12-116424123-G-T |
c.4286C>A |
p.A1429D |
Missense |
19/31 |
- |
1 |
12-116424127-C-A |
c.4282G>T |
p.E1428* |
Nonsense |
19/31 |
- |
3 |
12-116424128-A-ACC |
c.4280_4281insGG |
p.N1427Kfs*16 |
Frameshift |
19/31 |
- |
1 |
12-116424130-T-TCC |
c.4278_4279insGG |
p.N1427Gfs*16 |
Frameshift |
19/31 |
- |
1 |
12-116424132-T-TCAACC |
c.4276_4277insGGTTG |
p.E1426Gfs*18 |
Frameshift |
19/31 |
- |
1 |
12-116424134-T-TCATGGGTCTTTGACAAGTGACTCCA |
c.4274_4275insTGGAGTCACTTGTCAAAGACCCATG |
p.E1426Gfs*11 |
Frameshift |
19/31 |
- |
1 |
12-116424141-A-G |
c.4268T>C |
p.V1423A |
Missense |
19/31 |
- |
1 |
12-116424143-CAC-AAA |
c.4264_4266delinsTTT |
p.V1422F |
Missense |
19/31 |
- |
1 |
12-116424144-A-G |
c.4265T>C |
p.V1422A |
Missense |
19/31 |
- |
1 |
12-116424145-C-T |
c.4264G>A |
p.V1422M |
Missense |
19/31 |
- |
1 |
12-116424148-T-C |
c.4261A>G |
p.I1421V |
Missense |
19/31 |
- |
1 |
12-116424159-T-C |
c.4250A>G |
p.D1417G |
Missense |
19/31 |
- |
1 |
12-116424160-C-T |
c.4249G>A |
p.D1417N |
Missense |
19/31 |
- |
1 |
12-116424162-C-T |
c.4247G>A |
p.R1416H |
Missense |
19/31 |
- |
5 |
12-116424163-G-A |
c.4246C>T |
p.R1416C |
Missense |
19/31 |
- |
2 |
12-116424163-G-C |
c.4246C>G |
p.R1416G |
Missense |
19/31 |
- |
1 |
12-116424167-G-A |
c.4242C>T |
p.G1414= |
Synonymous |
19/31 |
- |
2 |
12-116424167-G-C |
c.4242C>G |
p.G1414= |
Synonymous |
19/31 |
- |
1 |
12-116424167-G-T |
c.4242C>A |
p.G1414= |
Synonymous |
19/31 |
- |
1 |
12-116424168-C-G |
c.4241G>C |
p.G1414A |
Missense |
19/31 |
- |
1 |
12-116424170-C-T |
c.4239G>A |
p.G1413= |
Synonymous |
19/31 |
- |
1 |
12-116424172-C-A |
c.4237G>T |
p.G1413W |
Missense |
19/31 |
- |
1 |
12-116424172-C-T |
c.4237G>A |
p.G1413R |
Missense |
19/31 |
- |
1 |
12-116424181-C-A |
c.4228G>T |
p.D1410Y |
Missense |
19/31 |
- |
2 |
12-116424183-A-G |
c.4226T>C |
p.L1409S |
Missense |
19/31 |
- |
1 |
12-116424188-G-A |
c.4221C>T |
p.L1407= |
Synonymous |
19/31 |
- |
1 |
12-116424188-G-C |
c.4221C>G |
p.L1407= |
Synonymous |
19/31 |
- |
1 |
12-116424188-G-T |
c.4221C>A |
p.L1407= |
Synonymous |
19/31 |
- |
1 |
12-116424190-G-GC |
c.4218dup |
p.L1407Afs*11 |
Frameshift |
19/31 |
- |
1 |
12-116424194-C-T |
c.4215G>A |
p.E1405= |
Synonymous |
19/31 |
- |
1 |
12-116424196-C-T |
c.4213G>A |
p.E1405K |
Missense |
19/31 |
- |
1 |
12-116424198-C-G |
c.4211G>C |
p.W1404S |
Missense |
19/31 |
- |
1 |
12-116424201-A-G |
c.4208T>C |
p.F1403S |
Missense |
19/31 |
- |
1 |
12-116424200-A-C |
c.4209T>G |
p.F1403L |
Missense |
19/31 |
- |
1 |
12-116424200-A-T |
c.4209T>A |
p.F1403L |
Missense |
19/31 |
- |
1 |
12-116424202-A-G |
c.4207T>C |
p.F1403L |
Missense |
19/31 |
- |
2 |
12-116424203-C-A |
c.4206G>T |
p.P1402= |
Synonymous |
19/31 |
- |
1 |
12-116424203-C-G |
c.4206G>C |
p.P1402= |
Synonymous |
19/31 |
- |
1 |
12-116424203-C-T |
c.4206G>A |
p.P1402= |
Synonymous |
19/31 |
- |
3 |
12-116424204-G-A |
c.4205C>T |
p.P1402L |
Missense |
19/31 |
- |
2 |
12-116424206-C-G |
c.4203G>C |
p.L1401F |
Missense |
19/31 |
- |
1 |
12-116424209-G-A |
c.4200C>T |
p.S1400= |
Synonymous |
19/31 |
- |
1 |
12-116424209-G-C |
c.4200C>G |
p.S1400= |
Synonymous |
19/31 |
- |
1 |
12-116424209-G-T |
c.4200C>A |
p.S1400= |
Synonymous |
19/31 |
- |
1 |
12-116424210-G-A |
c.4199C>T |
p.S1400F |
Missense |
19/31 |
- |
4 |
12-116424217-G-A |
c.4192C>T |
p.P1398S |
Missense |
19/31 |
- |
3 |
12-116424218-C-A |
c.4191G>T |
p.S1397= |
Synonymous |
19/31 |
- |
1 |
12-116424218-C-G |
c.4191G>C |
p.S1397= |
Synonymous |
19/31 |
- |
1 |
12-116424218-C-T |
c.4191G>A |
p.S1397= |
Synonymous |
19/31 |
- |
1 |
12-116424221-G-A |
c.4188C>T |
p.I1396= |
Synonymous |
19/31 |
- |
1 |
12-116424221-G-T |
c.4188C>A |
p.I1396= |
Synonymous |
19/31 |
- |
1 |
12-116424227-G-A |
c.4182C>T |
p.L1394= |
Synonymous |
19/31 |
- |
3 |
12-116424230-G-A |
c.4179C>T |
p.F1393= |
Synonymous |
19/31 |
- |
1 |
12-116424232-A-C |
c.4177T>G |
p.F1393V |
Missense |
19/31 |
- |
1 |
12-116424239-G-C |
c.4170C>G |
p.D1390E |
Missense |
19/31 |
- |
1 |
12-116424240-T-C |
c.4169A>G |
p.D1390G |
Missense |
19/31 |
- |
1 |
12-116424243-T-C |
c.4166A>G |
p.Y1389C |
Missense |
19/31 |
- |
1 |
12-116424254-C-A |
c.4155G>T |
p.L1385= |
Synonymous |
19/31 |
- |
1 |
12-116424254-C-G |
c.4155G>C |
p.L1385= |
Synonymous |
19/31 |
- |
1 |
12-116424254-C-T |
c.4155G>A |
p.L1385= |
Synonymous |
19/31 |
- |
1 |
12-116424256-G-A |
c.4153C>T |
p.L1385= |
Synonymous |
19/31 |
- |
1 |
12-116424255-AG-GA |
c.4153_4154delinsTC |
p.L1385S |
Missense |
19/31 |
- |
1 |
12-116424256-AG-A |
c.4153del |
p.L1385Cfs*3 |
Frameshift |
19/31 |
- |
1 |
12-116424259-T-C |
c.4150A>G |
p.T1384A |
Missense |
19/31 |
- |
3 |
12-116424265-T-C |
c.4144A>G |
p.I1382V |
Missense |
19/31 |
- |
1 |
12-116424266-G-A |
c.4143C>T |
p.P1381= |
Synonymous |
19/31 |
- |
1 |
12-116424266-G-C |
c.4143C>G |
p.P1381= |
Synonymous |
19/31 |
- |
1 |
12-116424266-G-T |
c.4143C>A |
p.P1381= |
Synonymous |
19/31 |
- |
1 |
12-116424272-C-G |
c.4137G>C |
p.P1379= |
Synonymous |
19/31 |
- |
2 |
12-116424272-C-T |
c.4137G>A |
p.P1379= |
Synonymous |
19/31 |
- |
5 |
12-116424277-C-G |
c.4132G>C |
p.E1378Q |
Missense |
19/31 |
- |
1 |
12-116424280-G-A |
c.4129C>T |
p.P1377S |
Missense |
19/31 |
- |
1 |
12-116424282-G-A |
c.4127C>T |
p.S1376F |
Missense |
19/31 |
- |
1 |
12-116424292-A-C |
c.4117T>G |
p.S1373A |
Missense |
19/31 |
- |
1 |
12-116424294-C-G |
c.4115G>C |
p.G1372A |
Missense |
19/31 |
- |
1 |
12-116424665-A-G |
c.4114+249T>C |
- |
IntronicSNV |
- |
18/30 |
3 |
12-116424866-G-A |
c.4114+48C>T |
- |
IntronicSNV |
- |
18/30 |
1 |
12-116424906-G-C |
c.4114+8C>G |
- |
IntronicSNV |
- |
18/30 |
1 |
12-116424912-A-T |
c.4114+2T>A |
- |
IntronicSNV |
- |
18/30 |
1 |
12-116424914-C-G |
c.4114G>C |
p.G1372R |
Missense |
18/31 |
- |
1 |
12-116424915-G-A |
c.4113C>T |
p.Y1371= |
Synonymous |
18/31 |
- |
1 |
12-116424917-A-T |
c.4111T>A |
p.Y1371N |
Missense |
18/31 |
- |
1 |
12-116424921-TC-T |
c.4106del |
p.G1369Efs*19 |
Frameshift |
18/31 |
- |
4 |
12-116424925-C-T |
c.4103G>A |
p.R1368Q |
Missense |
18/31 |
- |
1 |
12-116424926-G-A |
c.4102C>T |
p.R1368W |
Missense |
18/31 |
- |
3 |
12-116424927-TCC-ACA |
c.4099_4101delinsTGT |
p.G1367C |
Missense |
18/31 |
- |
1 |
12-116424928-C-A |
c.4100G>T |
p.G1367V |
Missense |
18/31 |
- |
1 |
12-116424931-G-A |
c.4097C>T |
p.A1366V |
Missense |
18/31 |
- |
1 |
12-116424951-C-T |
c.4077G>A |
p.W1359* |
Nonsense |
18/31 |
- |
6 |
12-116424952-C-T |
c.4076G>A |
p.W1359* |
Nonsense |
18/31 |
- |
12 |
12-116424968-G-A |
c.4060C>T |
p.Q1354* |
Nonsense |
18/31 |
- |
1 |
12-116424974-G-A |
c.4054C>T |
p.H1352Y |
Missense |
18/31 |
- |
1 |
12-116424990-G-A |
c.4038C>T |
p.T1346= |
Synonymous |
18/31 |
- |
1 |
12-116424990-G-C |
c.4038C>G |
p.T1346= |
Synonymous |
18/31 |
- |
1 |
12-116424990-G-T |
c.4038C>A |
p.T1346= |
Synonymous |
18/31 |
- |
1 |
12-116424993-C-T |
c.4035G>A |
p.R1345= |
Synonymous |
18/31 |
- |
1 |
12-116424996-G-A |
c.4032C>T |
p.G1344= |
Synonymous |
18/31 |
- |
4 |
12-116425003-C-T |
c.4025G>A |
p.R1342H |
Missense |
18/31 |
- |
2 |
12-116425004-G-A |
c.4024C>T |
p.R1342C |
Missense |
18/31 |
- |
1 |
12-116425014-G-A |
c.4014C>T |
p.I1338= |
Synonymous |
18/31 |
- |
1 |
12-116425019-C-T |
c.4009G>A |
p.A1337T |
Missense |
18/31 |
- |
1 |
12-116425022-C-G |
c.4006G>C |
p.D1336H |
Missense |
18/31 |
- |
1 |
12-116425026-G-A |
c.4002C>T |
p.L1334= |
Synonymous |
18/31 |
- |
1 |
12-116425026-G-C |
c.4002C>G |
p.L1334= |
Synonymous |
18/31 |
- |
1 |
12-116425026-G-T |
c.4002C>A |
p.L1334= |
Synonymous |
18/31 |
- |
1 |
12-116425028-G-A |
c.4000C>T |
p.L1334F |
Missense |
18/31 |
- |
2 |
12-116425039-A-G |
c.3989T>C |
p.L1330P |
Missense |
18/31 |
- |
1 |
12-116425042-G-A |
c.3986C>T |
p.S1329F |
Missense |
18/31 |
- |
1 |
12-116425046-A-T |
c.3982T>A |
p.L1328M |
Missense |
18/31 |
- |
2 |
12-116425048-AG-GA |
c.3979_3980delinsTC |
p.L1327S |
Missense |
18/31 |
- |
1 |
12-116425049-G-T |
c.3979C>A |
p.L1327M |
Missense |
18/31 |
- |
1 |
12-116425055-G-A |
c.3973C>T |
p.R1325C |
Missense |
18/31 |
- |
5 |
12-116425066-T-C |
c.3962A>G |
p.Q1321R |
Missense |
18/31 |
- |
1 |
12-116425066-TG-T |
c.3961del |
p.Q1321Rfs*67 |
Frameshift |
18/31 |
- |
2 |
12-116425071-G-A |
c.3957C>T |
p.S1319= |
Synonymous |
18/31 |
- |
1 |
12-116425072-G-A |
c.3956C>T |
p.S1319F |
Missense |
18/31 |
- |
1 |
12-116425084-A-T |
c.3944T>A |
p.I1315N |
Missense |
18/31 |
- |
1 |
12-116425084-ATG-A |
c.3942_3943del |
p.I1315Qfs*49 |
Frameshift |
18/31 |
- |
1 |
12-116425088-C-T |
c.3940G>A |
p.D1314N |
Missense |
18/31 |
- |
2 |
12-116425091-G-T |
c.3937C>A |
p.L1313M |
Missense |
18/31 |
- |
1 |
12-116425157-T-C |
c.3935-64A>G |
- |
IntronicSNV |
- |
17/30 |
1 |
12-116428819-ACCTAC-A |
c.3934+1_3934+5del |
- |
SpliceDonorDeletion |
17/31 |
17/30 |
1 |
12-116428834-G-A |
c.3925C>T |
p.H1309Y |
Missense |
17/31 |
- |
1 |
12-116428836-G-A |
c.3923C>T |
p.P1308L |
Missense |
17/31 |
- |
2 |
12-116428837-G-A |
c.3922C>T |
p.P1308S |
Missense |
17/31 |
- |
1 |
12-116428843-A-G |
c.3916T>C |
p.S1306P |
Missense |
17/31 |
- |
1 |
12-116428843-A-T |
c.3916T>A |
p.S1306T |
Missense |
17/31 |
- |
1 |
12-116428844-G-T |
c.3915C>A |
p.H1305Q |
Missense |
17/31 |
- |
1 |
12-116428845-T-G |
c.3914A>C |
p.H1305P |
Missense |
17/31 |
- |
1 |
12-116428851-G-A |
c.3908C>T |
p.T1303I |
Missense |
17/31 |
- |
1 |
12-116428852-T-C |
c.3907A>G |
p.T1303A |
Missense |
17/31 |
- |
1 |
12-116428853-G-A |
c.3906C>T |
p.A1302= |
Synonymous |
17/31 |
- |
1 |
12-116428863-A-G |
c.3896T>C |
p.V1299A |
Missense |
17/31 |
- |
1 |
12-116428864-C-G |
c.3895G>C |
p.V1299L |
Missense |
17/31 |
- |
1 |
12-116428865-C-A |
c.3894G>T |
p.L1298= |
Synonymous |
17/31 |
- |
2 |
12-116428867-G-A |
c.3892C>T |
p.L1298= |
Synonymous |
17/31 |
- |
1 |
12-116428873-C-T |
c.3886G>A |
p.E1296K |
Missense |
17/31 |
- |
1 |
12-116428874-G-A |
c.3885C>T |
p.D1295= |
Synonymous |
17/31 |
- |
1 |
12-116428877-C-T |
c.3882G>A |
p.V1294= |
Synonymous |
17/31 |
- |
1 |
12-116428878-A-T |
c.3881T>A |
p.V1294E |
Missense |
17/31 |
- |
2 |
12-116428887-C-G |
c.3872G>C |
p.G1291A |
Missense |
17/31 |
- |
1 |
12-116428893-G-A |
c.3866C>T |
p.P1289L |
Missense |
17/31 |
- |
2 |
12-116428906-A-C |
c.3853T>G |
p.Y1285D |
Missense |
17/31 |
- |
1 |
12-116428908-T-A |
c.3851A>T |
p.Q1284L |
Missense |
17/31 |
- |
1 |
12-116428910-C-A |
c.3849G>T |
p.R1283= |
Synonymous |
17/31 |
- |
1 |
12-116428910-C-G |
c.3849G>C |
p.R1283= |
Synonymous |
17/31 |
- |
1 |
12-116428910-C-T |
c.3849G>A |
p.R1283= |
Synonymous |
17/31 |
- |
1 |
12-116428912-G-A |
c.3847C>T |
p.R1283W |
Missense |
17/31 |
- |
2 |
12-116428912-G-C |
c.3847C>G |
p.R1283G |
Missense |
17/31 |
- |
1 |
12-116428912-G-T |
c.3847C>A |
p.R1283= |
Synonymous |
17/31 |
- |
1 |
12-116428912-GC-G |
c.3846del |
p.R1283Gfs*17 |
Frameshift |
17/31 |
- |
1 |
12-116428925-C-A |
c.3834G>T |
p.A1278= |
Synonymous |
17/31 |
- |
1 |
12-116428925-C-G |
c.3834G>C |
p.A1278= |
Synonymous |
17/31 |
- |
1 |
12-116428925-C-T |
c.3834G>A |
p.A1278= |
Synonymous |
17/31 |
- |
1 |
12-116428926-G-A |
c.3833C>T |
p.A1278V |
Missense |
17/31 |
- |
6 |
12-116428931-A-C |
c.3828T>G |
p.F1276L |
Missense |
17/31 |
- |
2 |
12-116428931-A-T |
c.3828T>A |
p.F1276L |
Missense |
17/31 |
- |
1 |
12-116428933-A-G |
c.3826T>C |
p.F1276L |
Missense |
17/31 |
- |
1 |
12-116428939-C-T |
c.3820G>A |
p.E1274K |
Missense |
17/31 |
- |
2 |
12-116428952-A-C |
c.3807T>G |
p.N1269K |
Missense |
17/31 |
- |
1 |
12-116428955-A-G |
c.3804T>C |
p.N1268= |
Synonymous |
17/31 |
- |
1 |
12-116428960-C-G |
c.3799G>C |
p.D1267H |
Missense |
17/31 |
- |
1 |
12-116428960-C-T |
c.3799G>A |
p.D1267N |
Missense |
17/31 |
- |
3 |
12-116428962-G-GTA |
c.3796_3797insTA |
p.A1266Vfs*35 |
Frameshift |
17/31 |
- |
1 |
12-116428970-C-G |
c.3789G>C |
p.R1263= |
Synonymous |
17/31 |
- |
1 |
12-116428971-C-T |
c.3788G>A |
p.R1263Q |
Missense |
17/31 |
- |
1 |
12-116428972-G-A |
c.3787C>T |
p.R1263W |
Missense |
17/31 |
- |
2 |
12-116428973-G-A |
c.3786C>T |
p.D1262= |
Synonymous |
17/31 |
- |
1 |
12-116428975-C-A |
c.3784G>T |
p.D1262Y |
Missense |
17/31 |
- |
1 |
12-116428977-T-C |
c.3782A>G |
p.Y1261C |
Missense |
17/31 |
- |
1 |
12-116428979-A-G |
c.3780T>C |
p.S1260= |
Synonymous |
17/31 |
- |
1 |
12-116428992-C-G |
c.3767G>C |
p.C1256S |
Missense |
17/31 |
- |
1 |
12-116428995-G-A |
c.3764C>T |
p.P1255L |
Missense |
17/31 |
- |
4 |
12-116428993-AG-A |
c.3765del |
p.C1256Vfs*2 |
Frameshift |
17/31 |
- |
2 |
12-116428996-G-A |
c.3763C>T |
p.P1255S |
Missense |
17/31 |
- |
1 |
12-116428996-G-T |
c.3763C>A |
p.P1255T |
Missense |
17/31 |
- |
1 |
12-116428998-A-C |
c.3761T>G |
p.L1254R |
Missense |
17/31 |
- |
1 |
12-116429000-A-C |
c.3759T>G |
p.T1253= |
Synonymous |
17/31 |
- |
1 |
12-116429000-A-G |
c.3759T>C |
p.T1253= |
Synonymous |
17/31 |
- |
1 |
12-116429000-A-T |
c.3759T>A |
p.T1253= |
Synonymous |
17/31 |
- |
1 |
12-116429001-G-C |
c.3758C>G |
p.T1253S |
Missense |
17/31 |
- |
1 |
12-116429002-T-A |
c.3757A>T |
p.T1253S |
Missense |
17/31 |
- |
1 |
12-116429005-G-C |
c.3754C>G |
p.Q1252E |
Missense |
17/31 |
- |
1 |
12-116429007-C-T |
c.3752G>A |
p.R1251H |
Missense |
17/31 |
- |
1 |
12-116429008-G-A |
c.3751C>T |
p.R1251C |
Missense |
17/31 |
- |
1 |
12-116429014-T-C |
c.3745A>G |
p.N1249D |
Missense |
17/31 |
- |
1 |
12-116429016-GA-AT |
c.3742_3743delinsAT |
p.S1248I |
Missense |
17/31 |
- |
1 |
12-116429016-GA-CG |
c.3742_3743delinsCG |
p.S1248R |
Missense |
17/31 |
- |
1 |
12-116429016-G-C |
c.3743C>G |
p.S1248C |
Missense |
17/31 |
- |
1 |
12-116429021-A-C |
c.3738T>G |
p.I1246M |
Missense |
17/31 |
- |
1 |
12-116429029-C-A |
c.3730G>T |
p.D1244Y |
Missense |
17/31 |
- |
2 |
12-116429033-G-A |
c.3726C>T |
p.F1242= |
Synonymous |
17/31 |
- |
1 |
12-116429039-C-CA |
c.3719dup |
p.N1241Efs*9 |
Frameshift |
17/31 |
- |
1 |
12-116429040-A-AC |
c.3718_3719insG |
p.L1240Rfs*10 |
Frameshift |
17/31 |
- |
1 |
12-116429043-G-C |
c.3716C>G |
p.S1239* |
Nonsense |
17/31 |
- |
1 |
12-116429043-G-T |
c.3716C>A |
p.S1239* |
Nonsense |
17/31 |
- |
1 |
12-116429043-TG-T |
c.3716del |
p.S1239Yfs*2 |
Frameshift |
17/31 |
- |
1 |
12-116429045-A-C |
c.3714T>G |
p.A1238= |
Synonymous |
17/31 |
- |
1 |
12-116429047-C-A |
c.3712G>T |
p.A1238S |
Missense |
17/31 |
- |
1 |
12-116429052-G-C |
c.3707C>G |
p.P1236R |
Missense |
17/31 |
- |
1 |
12-116429059-T-A |
c.3700A>T |
p.T1234S |
Missense |
17/31 |
- |
3 |
12-116429064-T-G |
c.3695A>C |
p.Q1232P |
Missense |
17/31 |
- |
1 |
12-116429065-G-A |
c.3694C>T |
p.Q1232* |
Nonsense |
17/31 |
- |
1 |
12-116429067-T-G |
c.3692A>C |
p.N1231T |
Missense |
17/31 |
- |
1 |
12-116429071-G-A |
c.3688C>T |
p.Q1230* |
Nonsense |
17/31 |
- |
1 |
12-116429074-G-A |
c.3685C>T |
p.L1229F |
Missense |
17/31 |
- |
2 |
12-116429077-G-A |
c.3682C>T |
p.L1228F |
Missense |
17/31 |
- |
1 |
12-116429079-A-AG |
c.3679dup |
p.L1227Pfs*23 |
Frameshift |
17/31 |
- |
1 |
12-116429083-G-A |
c.3676C>T |
p.L1226F |
Missense |
17/31 |
- |
1 |
12-116429086-G-C |
c.3673C>G |
p.L1225V |
Missense |
17/31 |
- |
1 |
12-116429087-G-C |
c.3672C>G |
p.S1224R |
Missense |
17/31 |
- |
1 |
12-116429090-T-C |
c.3669A>G |
p.I1223M |
Missense |
17/31 |
- |
2 |
12-116429094-G-T |
c.3665C>A |
p.P1222H |
Missense |
17/31 |
- |
1 |
12-116429101-C-G |
c.3658G>C |
p.E1220Q |
Missense |
17/31 |
- |
1 |
12-116429104-G-A |
c.3655C>T |
p.Q1219* |
Nonsense |
17/31 |
- |
1 |
12-116429105-G-T |
c.3654C>A |
p.P1218= |
Synonymous |
17/31 |
- |
1 |
12-116429106-G-T |
c.3653C>A |
p.P1218H |
Missense |
17/31 |
- |
1 |
12-116429109-T-G |
c.3650A>C |
p.K1217T |
Missense |
17/31 |
- |
1 |
12-116429107-G-GT |
c.3651dup |
p.P1218Tfs*32 |
Frameshift |
17/31 |
- |
2 |
12-116429107-GT-G |
c.3651del |
p.K1217Nfs*7 |
Frameshift |
17/31 |
- |
3 |
12-116429116-T-A |
c.3643A>T |
p.T1215S |
Missense |
17/31 |
- |
1 |
12-116429121-T-G |
c.3638A>C |
p.E1213A |
Missense |
17/31 |
- |
1 |
12-116429125-C-A |
c.3634G>T |
p.V1212L |
Missense |
17/31 |
- |
3 |
12-116429125-C-G |
c.3634G>C |
p.V1212L |
Missense |
17/31 |
- |
1 |
12-116429127-T-TTCCTTCCTCAG |
c.3631_3632insCTGAGGAAGGA |
p.Q1211Pfs*17 |
Frameshift |
17/31 |
- |
2 |
12-116429128-G-A |
c.3631C>T |
p.Q1211* |
Nonsense |
17/31 |
- |
1 |
12-116429130-G-A |
c.3629C>T |
p.P1210L |
Missense |
17/31 |
- |
1 |
12-116429131-G-A |
c.3628C>T |
p.P1210S |
Missense |
17/31 |
- |
1 |
12-116429155-T-A |
c.3604A>T |
p.M1202L |
Missense |
17/31 |
- |
1 |
12-116429159-G-A |
c.3600C>T |
p.R1200= |
Synonymous |
17/31 |
- |
2 |
12-116429160-C-A |
c.3599G>T |
p.R1200L |
Missense |
17/31 |
- |
1 |
12-116429160-C-T |
c.3599G>A |
p.R1200H |
Missense |
17/31 |
- |
4 |
12-116429172-G-A |
c.3587C>T |
p.A1196V |
Missense |
17/31 |
- |
3 |
12-116429192-CT-C |
c.3566del |
p.K1189Rfs*13 |
Frameshift |
17/31 |
- |
1 |
12-116429197-C-A |
c.3562G>T |
p.G1188W |
Missense |
17/31 |
- |
1 |
12-116429197-C-T |
c.3562G>A |
p.G1188R |
Missense |
17/31 |
- |
2 |
12-116429198-A-C |
c.3561T>G |
p.F1187L |
Missense |
17/31 |
- |
2 |
12-116429198-A-T |
c.3561T>A |
p.F1187L |
Missense |
17/31 |
- |
1 |
12-116429200-A-G |
c.3559T>C |
p.F1187L |
Missense |
17/31 |
- |
1 |
12-116429197-CA-C |
c.3561del |
p.F1187Lfs*15 |
Frameshift |
17/31 |
- |
1 |
12-116429205-T-A |
c.3554A>T |
p.D1185V |
Missense |
17/31 |
- |
1 |
12-116429208-A-G |
c.3551T>C |
p.L1184S |
Missense |
17/31 |
- |
2 |
12-116429207-C-T |
c.3552G>A |
p.L1184= |
Synonymous |
17/31 |
- |
1 |
12-116429209-A-G |
c.3550T>C |
p.L1184= |
Synonymous |
17/31 |
- |
2 |
12-116429210-C-A |
c.3549G>T |
p.E1183D |
Missense |
17/31 |
- |
1 |
12-116429215-C-T |
c.3544G>A |
p.D1182N |
Missense |
17/31 |
- |
1 |
12-116429222-G-A |
c.3537C>T |
p.F1179= |
Synonymous |
17/31 |
- |
2 |
12-116429225-G-A |
c.3534C>T |
p.L1178= |
Synonymous |
17/31 |
- |
1 |
12-116429227-G-A |
c.3532C>T |
p.L1178F |
Missense |
17/31 |
- |
1 |
12-116429232-G-A |
c.3527C>T |
p.S1176L |
Missense |
17/31 |
- |
1 |
12-116429236-T-C |
c.3523A>G |
p.N1175D |
Missense |
17/31 |
- |
1 |
12-116429238-T-C |
c.3521A>G |
p.Y1174C |
Missense |
17/31 |
- |
8 |
12-116429245-G-A |
c.3514C>T |
p.L1172F |
Missense |
17/31 |
- |
1 |
12-116429247-T-C |
c.3512A>G |
p.K1171R |
Missense |
17/31 |
- |
10 |
12-116429247-T-G |
c.3512A>C |
p.K1171T |
Missense |
17/31 |
- |
2 |
12-116429250-C-A |
c.3509G>T |
p.R1170L |
Missense |
17/31 |
- |
1 |
12-116429250-C-T |
c.3509G>A |
p.R1170H |
Missense |
17/31 |
- |
1 |
12-116429251-G-A |
c.3508C>T |
p.R1170C |
Missense |
17/31 |
- |
1 |
12-116429257-TA-CG |
c.3501_3502delinsCG |
p.M1168V |
Missense |
17/31 |
- |
1 |
12-116429262-G-A |
c.3497C>T |
p.A1166V |
Missense |
17/31 |
- |
4 |
12-116429263-C-A |
c.3496G>T |
p.A1166S |
Missense |
17/31 |
- |
4 |
12-116429267-A-C |
c.3492T>G |
p.F1164L |
Missense |
17/31 |
- |
1 |
12-116429267-A-T |
c.3492T>A |
p.F1164L |
Missense |
17/31 |
- |
1 |
12-116429269-A-G |
c.3490T>C |
p.F1164L |
Missense |
17/31 |
- |
1 |
12-116429276-G-A |
c.3483C>T |
p.T1161= |
Synonymous |
17/31 |
- |
1 |
12-116429276-G-C |
c.3483C>G |
p.T1161= |
Synonymous |
17/31 |
- |
1 |
12-116429276-G-T |
c.3483C>A |
p.T1161= |
Synonymous |
17/31 |
- |
1 |
12-116429277-G-A |
c.3482C>T |
p.T1161I |
Missense |
17/31 |
- |
1 |
12-116429281-A-G |
c.3478T>C |
p.C1160R |
Missense |
17/31 |
- |
4 |
12-116429283-C-T |
c.3476G>A |
p.R1159H |
Missense |
17/31 |
- |
3 |
12-116429290-G-A |
c.3469C>T |
p.Q1157* |
Nonsense |
17/31 |
- |
3 |
12-116429297-A-C |
c.3462T>G |
p.N1154K |
Missense |
17/31 |
- |
1 |
12-116429307-T-C |
c.3452A>G |
p.D1151G |
Missense |
17/31 |
- |
1 |
12-116429310-G-A |
c.3449C>T |
p.P1150L |
Missense |
17/31 |
- |
3 |
12-116429311-G-T |
c.3448C>A |
p.P1150T |
Missense |
17/31 |
- |
1 |
12-116429312-G-A |
c.3447C>T |
p.I1149= |
Synonymous |
17/31 |
- |
2 |
12-116429312-G-T |
c.3447C>A |
p.I1149= |
Synonymous |
17/31 |
- |
1 |
12-116429319-A-T |
c.3440T>A |
p.L1147H |
Missense |
17/31 |
- |
1 |
12-116429321-CCC-GCT |
c.3436_3438delinsAGC |
p.G1146S |
Missense |
17/31 |
- |
1 |
12-116429323-C-G |
c.3436G>C |
p.G1146R |
Missense |
17/31 |
- |
1 |
12-116429323-C-T |
c.3436G>A |
p.G1146R |
Missense |
17/31 |
- |
1 |
12-116429325-A-G |
c.3434T>C |
p.V1145A |
Missense |
17/31 |
- |
1 |
12-116429326-AC-A |
c.3433del |
p.V1145Sfs*24 |
Frameshift |
17/31 |
- |
3 |
12-116429330-C-A |
c.3429G>T |
p.A1143= |
Synonymous |
17/31 |
- |
1 |
12-116429330-C-G |
c.3429G>C |
p.A1143= |
Synonymous |
17/31 |
- |
1 |
12-116429330-C-T |
c.3429G>A |
p.A1143= |
Synonymous |
17/31 |
- |
4 |
12-116429331-G-A |
c.3428C>T |
p.A1143V |
Missense |
17/31 |
- |
3 |
12-116429331-G-T |
c.3428C>A |
p.A1143E |
Missense |
17/31 |
- |
1 |
12-116429333-C-T |
c.3426G>A |
p.G1142= |
Synonymous |
17/31 |
- |
1 |
12-116429336-T-C |
c.3423A>G |
p.K1141= |
Synonymous |
17/31 |
- |
1 |
12-116429339-G-C |
c.3420C>G |
p.I1140M |
Missense |
17/31 |
- |
3 |
12-116429343-T-A |
c.3416A>T |
p.N1139I |
Missense |
17/31 |
- |
1 |
12-116429346-CA-C |
c.3413del |
p.M1138Rfs*31 |
Frameshift |
17/31 |
- |
1 |
12-116429355-G-A |
c.3404C>T |
p.A1135V |
Missense |
17/31 |
- |
3 |
12-116429358-C-A |
c.3401G>T |
p.C1134F |
Missense |
17/31 |
- |
1 |
12-116429358-C-T |
c.3401G>A |
p.C1134Y |
Missense |
17/31 |
- |
1 |
12-116429360-G-A |
c.3399C>T |
p.I1133= |
Synonymous |
17/31 |
- |
1 |
12-116429360-G-T |
c.3399C>A |
p.I1133= |
Synonymous |
17/31 |
- |
1 |
12-116429367-C-T |
c.3392G>A |
p.C1131Y |
Missense |
17/31 |
- |
5 |
12-116429370-C-T |
c.3389G>A |
p.S1130N |
Missense |
17/31 |
- |
6 |
12-116429381-T-G |
c.3378A>C |
p.R1126S |
Missense |
17/31 |
- |
1 |
12-116429385-T-A |
c.3374A>T |
p.D1125V |
Missense |
17/31 |
- |
2 |
12-116429395-T-C |
c.3364A>G |
p.I1122V |
Missense |
17/31 |
- |
1 |
12-116429401-T-A |
c.3358A>T |
p.M1120L |
Missense |
17/31 |
- |
1 |
12-116429401-T-G |
c.3358A>C |
p.M1120L |
Missense |
17/31 |
- |
1 |
12-116429404-C-T |
c.3355G>A |
p.V1119M |
Missense |
17/31 |
- |
2 |
12-116429405-G-A |
c.3354C>T |
p.S1118= |
Synonymous |
17/31 |
- |
2 |
12-116429405-G-C |
c.3354C>G |
p.S1118= |
Synonymous |
17/31 |
- |
2 |
12-116429405-G-T |
c.3354C>A |
p.S1118= |
Synonymous |
17/31 |
- |
2 |
12-116429410-C-T |
c.3349G>A |
p.D1117N |
Missense |
17/31 |
- |
2 |
12-116429412-G-A |
c.3347C>T |
p.S1116F |
Missense |
17/31 |
- |
1 |
12-116429416-G-C |
c.3343C>G |
p.L1115V |
Missense |
17/31 |
- |
2 |
12-116429426-A-G |
c.3333T>C |
p.V1111= |
Synonymous |
17/31 |
- |
2 |
12-116429428-C-T |
c.3331G>A |
p.V1111I |
Missense |
17/31 |
- |
1 |
12-116429430-T-A |
c.3329A>T |
p.Y1110F |
Missense |
17/31 |
- |
1 |
12-116429430-T-C |
c.3329A>G |
p.Y1110C |
Missense |
17/31 |
- |
1 |
12-116429432-G-A |
c.3327C>T |
p.L1109= |
Synonymous |
17/31 |
- |
1 |
12-116429432-G-C |
c.3327C>G |
p.L1109= |
Synonymous |
17/31 |
- |
1 |
12-116429432-G-T |
c.3327C>A |
p.L1109= |
Synonymous |
17/31 |
- |
1 |
12-116429442-G-A |
c.3317C>T |
p.A1106V |
Missense |
17/31 |
- |
1 |
12-116429449-G-A |
c.3310C>T |
p.P1104S |
Missense |
17/31 |
- |
2 |
12-116429452-T-C |
c.3307A>G |
p.I1103V |
Missense |
17/31 |
- |
1 |
12-116429452-T-G |
c.3307A>C |
p.I1103L |
Missense |
17/31 |
- |
1 |
12-116429451-A-AT |
c.3307dup |
p.I1103Nfs*22 |
Frameshift |
17/31 |
- |
1 |
12-116429466-G-A |
c.3293C>T |
p.A1098V |
Missense |
17/31 |
- |
1 |
12-116429467-C-T |
c.3292G>A |
p.A1098T |
Missense |
17/31 |
- |
1 |
12-116429468-G-A |
c.3291C>T |
p.P1097= |
Synonymous |
17/31 |
- |
3 |
12-116429481-T-C |
c.3278A>G |
p.N1093S |
Missense |
17/31 |
- |
1 |
12-116429483-G-TT |
c.3276delinsAA |
p.N1093Kfs*32 |
Frameshift |
17/31 |
- |
1 |
12-116429486-G-A |
c.3273C>T |
p.P1091= |
Synonymous |
17/31 |
- |
3 |
12-116429488-GC-G |
c.3270del |
p.L1092Sfs*22 |
Frameshift |
17/31 |
- |
4 |
12-116429498-A-T |
c.3261T>A |
p.S1087= |
Synonymous |
17/31 |
- |
1 |
12-116429499-AG-A |
c.3260del |
p.S1087Lfs*27 |
Frameshift |
17/31 |
- |
2 |
12-116429501-G-A |
c.3258C>T |
p.P1086= |
Synonymous |
17/31 |
- |
1 |
12-116429502-G-A |
c.3257C>T |
p.P1086L |
Missense |
17/31 |
- |
4 |
12-116429500-AG-A |
c.3258del |
p.S1087Lfs*27 |
Frameshift |
17/31 |
- |
1 |
12-116429505-G-A |
c.3254C>T |
p.T1085I |
Missense |
17/31 |
- |
2 |
12-116429508-G-C |
c.3251C>G |
p.S1084C |
Missense |
17/31 |
- |
1 |
12-116429510-G-A |
c.3249C>T |
p.A1083= |
Synonymous |
17/31 |
- |
2 |
12-116429510-G-C |
c.3249C>G |
p.A1083= |
Synonymous |
17/31 |
- |
1 |
12-116429510-G-T |
c.3249C>A |
p.A1083= |
Synonymous |
17/31 |
- |
1 |
12-116429511-G-A |
c.3248C>T |
p.A1083V |
Missense |
17/31 |
- |
1 |
12-116429512-C-G |
c.3247G>C |
p.A1083P |
Missense |
17/31 |
- |
1 |
12-116429514-G-A |
c.3245C>T |
p.P1082L |
Missense |
17/31 |
- |
1 |
12-116429516-T-A |
c.3243A>T |
p.S1081= |
Synonymous |
17/31 |
- |
1 |
12-116429516-T-C |
c.3243A>G |
p.S1081= |
Synonymous |
17/31 |
- |
1 |
12-116429516-T-G |
c.3243A>C |
p.S1081= |
Synonymous |
17/31 |
- |
1 |
12-116429521-C-G |
c.3238G>C |
p.G1080R |
Missense |
17/31 |
- |
1 |
12-116429521-C-T |
c.3238G>A |
p.G1080R |
Missense |
17/31 |
- |
1 |
12-116429525-A-T |
c.3234T>A |
p.D1078E |
Missense |
17/31 |
- |
1 |
12-116429527-C-T |
c.3232G>A |
p.D1078N |
Missense |
17/31 |
- |
2 |
12-116429528-G-A |
c.3231C>T |
p.T1077= |
Synonymous |
17/31 |
- |
1 |
12-116429532-C-T |
c.3227G>A |
p.S1076N |
Missense |
17/31 |
- |
2 |
12-116429545-C-T |
c.3214G>A |
p.V1072I |
Missense |
17/31 |
- |
2 |
12-116429546-A-C |
c.3213T>G |
p.S1071= |
Synonymous |
17/31 |
- |
1 |
12-116429546-A-G |
c.3213T>C |
p.S1071= |
Synonymous |
17/31 |
- |
1 |
12-116429546-A-T |
c.3213T>A |
p.S1071= |
Synonymous |
17/31 |
- |
1 |
12-116429547-G-A |
c.3212C>T |
p.S1071F |
Missense |
17/31 |
- |
1 |
12-116429549-C-T |
c.3210G>A |
p.G1070= |
Synonymous |
17/31 |
- |
2 |
12-116429556-C-A |
c.3203G>T |
p.G1068V |
Missense |
17/31 |
- |
1 |
12-116429558-A-ATTAC |
c.3200_3201insGTAA |
p.S1067Rfs*2 |
Frameshift |
17/31 |
- |
1 |
12-116429562-G-A |
c.3197C>T |
p.A1066V |
Missense |
17/31 |
- |
1 |
12-116429568-C-T |
c.3191G>A |
p.G1064D |
Missense |
17/31 |
- |
1 |
12-116429567-G-GC |
c.3191dup |
p.T1065Hfs*9 |
Frameshift |
17/31 |
- |
3 |
12-116429577-C-A |
c.3182G>T |
p.R1061I |
Missense |
17/31 |
- |
1 |
12-116429580-G-A |
c.3179C>T |
p.P1060L |
Missense |
17/31 |
- |
2 |
12-116429581-G-A |
c.3178C>T |
p.P1060S |
Missense |
17/31 |
- |
2 |
12-116429583-G-A |
c.3176C>T |
p.T1059I |
Missense |
17/31 |
- |
1 |
12-116429595-C-A |
c.3164G>T |
p.R1055M |
Missense |
17/31 |
- |
2 |
12-116429598-G-A |
c.3161C>T |
p.P1054L |
Missense |
17/31 |
- |
1 |
12-116429607-G-A |
c.3152C>T |
p.P1051L |
Missense |
17/31 |
- |
2 |
12-116429611-T-G |
c.3148A>C |
p.T1050P |
Missense |
17/31 |
- |
1 |
12-116429613-G-T |
c.3146C>A |
p.P1049H |
Missense |
17/31 |
- |
1 |
12-116429624-GCG-TCA |
c.3133_3135delinsTGA |
p.R1045* |
Nonsense |
17/31 |
- |
1 |
12-116429625-C-A |
c.3134G>T |
p.R1045L |
Missense |
17/31 |
- |
2 |
12-116429625-C-T |
c.3134G>A |
p.R1045H |
Missense |
17/31 |
- |
1 |
12-116429626-G-A |
c.3133C>T |
p.R1045C |
Missense |
17/31 |
- |
3 |
12-116429629-G-A |
c.3130C>T |
p.P1044S |
Missense |
17/31 |
- |
1 |
12-116429630-G-A |
c.3129C>T |
p.T1043= |
Synonymous |
17/31 |
- |
1 |
12-116429630-G-C |
c.3129C>G |
p.T1043= |
Synonymous |
17/31 |
- |
1 |
12-116429630-G-T |
c.3129C>A |
p.T1043= |
Synonymous |
17/31 |
- |
1 |
12-116429634-G-C |
c.3125C>G |
p.A1042G |
Missense |
17/31 |
- |
1 |
12-116429637-G-A |
c.3122C>T |
p.P1041L |
Missense |
17/31 |
- |
1 |
12-116429643-G-C |
c.3116C>G |
p.P1039R |
Missense |
17/31 |
- |
1 |
12-116429644-G-A |
c.3115C>T |
p.P1039S |
Missense |
17/31 |
- |
2 |
12-116429649-A-G |
c.3110T>C |
p.V1037A |
Missense |
17/31 |
- |
1 |
12-116429657-C-T |
c.3102G>A |
p.G1034= |
Synonymous |
17/31 |
- |
1 |
12-116429658-C-A |
c.3101G>T |
p.G1034V |
Missense |
17/31 |
- |
1 |
12-116429661-AC-A |
c.3098del |
p.S1033Mfs*81 |
Frameshift |
17/31 |
- |
3 |
12-116429665-T-G |
c.3094A>C |
p.N1032H |
Missense |
17/31 |
- |
1 |
12-116429670-G-C |
c.3089C>G |
p.A1030G |
Missense |
17/31 |
- |
1 |
12-116429672-T-A |
c.3087A>T |
p.P1029= |
Synonymous |
17/31 |
- |
1 |
12-116429674-G-T |
c.3085C>A |
p.P1029T |
Missense |
17/31 |
- |
1 |
12-116429680-C-T |
c.3079G>A |
p.A1027T |
Missense |
17/31 |
- |
1 |
12-116429681-G-A |
c.3078C>T |
p.S1026= |
Synonymous |
17/31 |
- |
1 |
12-116429689-A-G |
c.3070T>C |
p.L1024= |
Synonymous |
17/31 |
- |
15 |
12-116429691-G-A |
c.3068C>T |
p.T1023M |
Missense |
17/31 |
- |
2 |
12-116429695-C-T |
c.3064G>A |
p.V1022M |
Missense |
17/31 |
- |
1 |
12-116429696-G-A |
c.3063C>T |
p.P1021= |
Synonymous |
17/31 |
- |
1 |
12-116429696-G-C |
c.3063C>G |
p.P1021= |
Synonymous |
17/31 |
- |
1 |
12-116429696-G-T |
c.3063C>A |
p.P1021= |
Synonymous |
17/31 |
- |
1 |
12-116429705-C-A |
c.3054G>T |
p.M1018I |
Missense |
17/31 |
- |
1 |
12-116429705-C-G |
c.3054G>C |
p.M1018I |
Missense |
17/31 |
- |
1 |
12-116429705-C-T |
c.3054G>A |
p.M1018I |
Missense |
17/31 |
- |
1 |
12-116429706-A-C |
c.3053T>G |
p.M1018R |
Missense |
17/31 |
- |
1 |
12-116429707-T-C |
c.3052A>G |
p.M1018V |
Missense |
17/31 |
- |
1 |
12-116429708-C-T |
c.3051G>A |
p.Q1017= |
Synonymous |
17/31 |
- |
3 |
12-116429709-T-A |
c.3050A>T |
p.Q1017L |
Missense |
17/31 |
- |
4 |
12-116429713-G-A |
c.3046C>T |
p.P1016S |
Missense |
17/31 |
- |
1 |
12-116429715-G-A |
c.3044C>T |
p.T1015I |
Missense |
17/31 |
- |
1 |
12-116429715-G-T |
c.3044C>A |
p.T1015K |
Missense |
17/31 |
- |
1 |
12-116429730-G-A |
c.3029C>T |
p.P1010L |
Missense |
17/31 |
- |
1 |
12-116429734-C-A |
c.3025G>T |
p.D1009Y |
Missense |
17/31 |
- |
2 |
12-116429736-G-A |
c.3023C>T |
p.A1008V |
Missense |
17/31 |
- |
1 |
12-116429736-G-C |
c.3023C>G |
p.A1008G |
Missense |
17/31 |
- |
1 |
12-116429743-T-C |
c.3016A>G |
p.S1006G |
Missense |
17/31 |
- |
1 |
12-116429745-C-T |
c.3014G>A |
p.G1005E |
Missense |
17/31 |
- |
1 |
12-116429748-A-C |
c.3011T>G |
p.V1004G |
Missense |
17/31 |
- |
1 |
12-116429759-G-A |
c.3000C>T |
p.N1000= |
Synonymous |
17/31 |
- |
1 |
12-116429762-A-G |
c.2997T>C |
p.N999= |
Synonymous |
17/31 |
- |
1 |
12-116429901-T-G |
c.2997-139A>C |
- |
IntronicSNV |
- |
16/30 |
3 |
12-116433888-A-G |
c.2996+393T>C |
- |
IntronicSNV |
- |
16/30 |
1 |
12-116434284-T-C |
c.2993A>G |
p.Y998C |
Missense |
16/31 |
- |
1 |
12-116434292-TCT-ATG |
c.2983_2985delinsCAT |
p.R995H |
Missense |
16/31 |
- |
1 |
12-116434293-C-T |
c.2984G>A |
p.R995K |
Missense |
16/31 |
- |
5 |
12-116434302-G-A |
c.2975C>T |
p.T992I |
Missense |
16/31 |
- |
1 |
12-116434305-G-T |
c.2972C>A |
p.A991D |
Missense |
16/31 |
- |
1 |
12-116434312-G-C |
c.2965C>G |
p.P989A |
Missense |
16/31 |
- |
1 |
12-116434310-A-AG |
c.2966dup |
p.A990Cfs*6 |
Frameshift |
16/31 |
- |
1 |
12-116434315-G-A |
c.2962C>T |
p.P988S |
Missense |
16/31 |
- |
2 |
12-116434315-G-T |
c.2962C>A |
p.P988T |
Missense |
16/31 |
- |
1 |
12-116434316-C-A |
c.2961G>T |
p.M987I |
Missense |
16/31 |
- |
1 |
12-116434316-C-G |
c.2961G>C |
p.M987I |
Missense |
16/31 |
- |
1 |
12-116434316-C-T |
c.2961G>A |
p.M987I |
Missense |
16/31 |
- |
1 |
12-116434318-T-C |
c.2959A>G |
p.M987V |
Missense |
16/31 |
- |
1 |
12-116434319-G-A |
c.2958C>T |
p.P986= |
Synonymous |
16/31 |
- |
1 |
12-116434322-C-A |
c.2955G>T |
p.L985= |
Synonymous |
16/31 |
- |
3 |
12-116434322-C-G |
c.2955G>C |
p.L985= |
Synonymous |
16/31 |
- |
1 |
12-116434322-C-T |
c.2955G>A |
p.L985= |
Synonymous |
16/31 |
- |
1 |
12-116434324-G-A |
c.2953C>T |
p.L985= |
Synonymous |
16/31 |
- |
1 |
12-116434325-T-C |
c.2952A>G |
p.Q984= |
Synonymous |
16/31 |
- |
2 |
12-116434335-T-C |
c.2942A>G |
p.K981R |
Missense |
16/31 |
- |
1 |
12-116434339-G-A |
c.2938C>T |
p.P980S |
Missense |
16/31 |
- |
2 |
12-116434342-G-A |
c.2935C>T |
p.P979S |
Missense |
16/31 |
- |
1 |
12-116434343-A-C |
c.2934T>G |
p.I978M |
Missense |
16/31 |
- |
1 |
12-116434345-T-C |
c.2932A>G |
p.I978V |
Missense |
16/31 |
- |
1 |
12-116434345-T-G |
c.2932A>C |
p.I978L |
Missense |
16/31 |
- |
1 |
12-116434347-G-A |
c.2930C>T |
p.A977V |
Missense |
16/31 |
- |
4 |
12-116434348-C-T |
c.2929G>A |
p.A977T |
Missense |
16/31 |
- |
1 |
12-116434349-C-T |
c.2928G>A |
p.W976* |
Nonsense |
16/31 |
- |
3 |
12-116434350-C-T |
c.2927G>A |
p.W976* |
Nonsense |
16/31 |
- |
1 |
12-116434357-GC-G |
c.2919del |
p.P974Lfs*34 |
Frameshift |
16/31 |
- |
1 |
12-116434359-C-T |
c.2918G>A |
p.R973Q |
Missense |
16/31 |
- |
1 |
12-116434360-G-A |
c.2917C>T |
p.R973W |
Missense |
16/31 |
- |
4 |
12-116434360-G-C |
c.2917C>G |
p.R973G |
Missense |
16/31 |
- |
1 |
12-116434364-CAG-GAT |
c.2911_2913delinsATC |
p.L971I |
Missense |
16/31 |
- |
1 |
12-116434368-C-T |
c.2909G>A |
p.C970Y |
Missense |
16/31 |
- |
2 |
12-116434377-G-A |
c.2900C>T |
p.P967L |
Missense |
16/31 |
- |
1 |
12-116434378-G-A |
c.2899C>T |
p.P967S |
Missense |
16/31 |
- |
1 |
12-116434381-T-C |
c.2896A>G |
p.I966V |
Missense |
16/31 |
- |
1 |
12-116434382-C-T |
c.2895G>A |
p.K965= |
Synonymous |
16/31 |
- |
1 |
12-116434390-G-A |
c.2887C>T |
p.P963S |
Missense |
16/31 |
- |
1 |
12-116434406-C-A |
c.2871G>T |
p.P957= |
Synonymous |
16/31 |
- |
2 |
12-116434406-C-G |
c.2871G>C |
p.P957= |
Synonymous |
16/31 |
- |
1 |
12-116434406-C-T |
c.2871G>A |
p.P957= |
Synonymous |
16/31 |
- |
2 |
12-116434407-G-C |
c.2870C>G |
p.P957R |
Missense |
16/31 |
- |
1 |
12-116434411-A-G |
c.2866T>C |
p.L956= |
Synonymous |
16/31 |
- |
1 |
12-116434425-G-A |
c.2852C>T |
p.A951V |
Missense |
16/31 |
- |
1 |
12-116434426-C-T |
c.2851G>A |
p.A951T |
Missense |
16/31 |
- |
1 |
12-116434428-A-C |
c.2849T>G |
p.F950C |
Missense |
16/31 |
- |
1 |
12-116434430-C-A |
c.2847G>T |
p.M949I |
Missense |
16/31 |
- |
1 |
12-116434430-C-G |
c.2847G>C |
p.M949I |
Missense |
16/31 |
- |
1 |
12-116434430-C-T |
c.2847G>A |
p.M949I |
Missense |
16/31 |
- |
1 |
12-116434432-T-C |
c.2845A>G |
p.M949V |
Missense |
16/31 |
- |
3 |
12-116434434-GA-AG |
c.2842_2843delinsCT |
p.S948L |
Missense |
16/31 |
- |
1 |
12-116434436-G-A |
c.2841C>T |
p.S947= |
Synonymous |
16/31 |
- |
3 |
12-116434443-A-G |
c.2834T>C |
p.V945A |
Missense |
16/31 |
- |
1 |
12-116434445-A-T |
c.2832T>A |
p.F944L |
Missense |
16/31 |
- |
1 |
12-116434448-A-G |
c.2829T>C |
p.P943= |
Synonymous |
16/31 |
- |
1 |
12-116434465-ACTT-A |
c.2810_2812del |
p.K937_V938delinsI |
MultiAAMissense |
16/31 |
- |
1 |
12-116434469-G-A |
c.2808C>T |
p.H936= |
Synonymous |
16/31 |
- |
2 |
12-116434471-G-GA |
c.2805_2806insT |
p.H936Sfs*33 |
Frameshift |
16/31 |
- |
1 |
12-116434474-C-T |
c.2803G>A |
p.V935M |
Missense |
16/31 |
- |
1 |
12-116434476-T-A |
c.2801A>T |
p.Y934F |
Missense |
16/31 |
- |
1 |
12-116434477-A-G |
c.2800T>C |
p.Y934H |
Missense |
16/31 |
- |
1 |
12-116434479-G-T |
c.2798C>A |
p.S933* |
Nonsense |
16/31 |
- |
4 |
12-116434815-C-T |
c.2790G>A |
p.K930= |
Synonymous |
15/31 |
- |
1 |
12-116434826-C-G |
c.2779G>C |
p.E927Q |
Missense |
15/31 |
- |
1 |
12-116434826-C-T |
c.2779G>A |
p.E927K |
Missense |
15/31 |
- |
1 |
12-116434827-G-A |
c.2778C>T |
p.P926= |
Synonymous |
15/31 |
- |
2 |
12-116434827-G-C |
c.2778C>G |
p.P926= |
Synonymous |
15/31 |
- |
2 |
12-116434827-G-T |
c.2778C>A |
p.P926= |
Synonymous |
15/31 |
- |
2 |
12-116434828-G-A |
c.2777C>T |
p.P926L |
Missense |
15/31 |
- |
6 |
12-116434836-A-G |
c.2769T>C |
p.S923= |
Synonymous |
15/31 |
- |
2 |
12-116434845-T-G |
c.2760A>C |
p.G920= |
Synonymous |
15/31 |
- |
1 |
12-116434846-CC-TT |
c.2758_2759delinsAA |
p.G920K |
Missense |
15/31 |
- |
1 |
12-116434847-C-T |
c.2758G>A |
p.G920R |
Missense |
15/31 |
- |
1 |
12-116434848-A-C |
c.2757T>G |
p.D919E |
Missense |
15/31 |
- |
1 |
12-116434848-A-G |
c.2757T>C |
p.D919= |
Synonymous |
15/31 |
- |
1 |
12-116434848-A-T |
c.2757T>A |
p.D919E |
Missense |
15/31 |
- |
1 |
12-116434850-C-G |
c.2755G>C |
p.D919H |
Missense |
15/31 |
- |
1 |
12-116434858-T-G |
c.2747A>C |
p.E916A |
Missense |
15/31 |
- |
1 |
12-116434859-C-A |
c.2746G>T |
p.E916* |
Nonsense |
15/31 |
- |
1 |
12-116434866-G-C |
c.2739C>G |
p.F913L |
Missense |
15/31 |
- |
2 |
12-116434866-G-T |
c.2739C>A |
p.F913L |
Missense |
15/31 |
- |
1 |
12-116434868-A-G |
c.2737T>C |
p.F913L |
Missense |
15/31 |
- |
1 |
12-116434871-C-A |
c.2734G>T |
p.E912* |
Nonsense |
15/31 |
- |
1 |
12-116434871-C-T |
c.2734G>A |
p.E912K |
Missense |
15/31 |
- |
1 |
12-116434883-T-C |
c.2722A>G |
p.T908A |
Missense |
15/31 |
- |
2 |
12-116434885-G-A |
c.2720C>T |
p.S907L |
Missense |
15/31 |
- |
1 |
12-116434900-A-G |
c.2705T>C |
p.M902T |
Missense |
15/31 |
- |
1 |
12-116434902-A-C |
c.2703T>G |
p.P901= |
Synonymous |
15/31 |
- |
1 |
12-116434902-A-G |
c.2703T>C |
p.P901= |
Synonymous |
15/31 |
- |
1 |
12-116434902-A-T |
c.2703T>A |
p.P901= |
Synonymous |
15/31 |
- |
1 |
12-116434903-G-A |
c.2702C>T |
p.P901L |
Missense |
15/31 |
- |
1 |
12-116434924-G-A |
c.2681C>T |
p.A894V |
Missense |
15/31 |
- |
1 |
12-116434931-C-T |
c.2674G>A |
p.V892M |
Missense |
15/31 |
- |
1 |
12-116434937-C-G |
c.2668G>C |
p.E890Q |
Missense |
15/31 |
- |
1 |
12-116434938-TGA-GTT |
c.2665_2667delinsAAC |
p.S889N |
Missense |
15/31 |
- |
1 |
12-116434939-G-A |
c.2666C>T |
p.S889L |
Missense |
15/31 |
- |
1 |
12-116434942-C-T |
c.2663G>A |
p.S888N |
Missense |
15/31 |
- |
2 |
12-116434943-T-C |
c.2662A>G |
p.S888G |
Missense |
15/31 |
- |
1 |
12-116434944-G-C |
c.2661C>G |
p.I887M |
Missense |
15/31 |
- |
1 |
12-116434952-C-G |
c.2653G>C |
p.D885H |
Missense |
15/31 |
- |
1 |
12-116434967-C-G |
c.2638G>C |
p.V880L |
Missense |
15/31 |
- |
1 |
12-116434969-G-A |
c.2636C>T |
p.P879L |
Missense |
15/31 |
- |
5 |
12-116434969-GG-AA |
c.2635_2636delinsTT |
p.P879F |
Missense |
15/31 |
- |
1 |
12-116434970-G-A |
c.2635C>T |
p.P879S |
Missense |
15/31 |
- |
2 |
12-116434971-A-C |
c.2634T>G |
p.S878= |
Synonymous |
15/31 |
- |
1 |
12-116434971-A-G |
c.2634T>C |
p.S878= |
Synonymous |
15/31 |
- |
1 |
12-116434971-A-T |
c.2634T>A |
p.S878= |
Synonymous |
15/31 |
- |
1 |
12-116434972-G-A |
c.2633C>T |
p.S878F |
Missense |
15/31 |
- |
2 |
12-116434972-G-C |
c.2633C>G |
p.S878C |
Missense |
15/31 |
- |
1 |
12-116434982-G-A |
c.2623C>T |
p.P875S |
Missense |
15/31 |
- |
2 |
12-116434984-T-G |
c.2621A>C |
p.H874P |
Missense |
15/31 |
- |
1 |
12-116434987-T-G |
c.2618A>C |
p.Q873P |
Missense |
15/31 |
- |
1 |
12-116434991-C-T |
c.2614G>A |
p.E872K |
Missense |
15/31 |
- |
5 |
12-116434996-G-A |
c.2609C>T |
p.S870F |
Missense |
15/31 |
- |
1 |
12-116434999-G-A |
c.2606C>T |
p.P869L |
Missense |
15/31 |
- |
1 |
12-116435000-G-A |
c.2605C>T |
p.P869S |
Missense |
15/31 |
- |
5 |
12-116435000-G-T |
c.2605C>A |
p.P869T |
Missense |
15/31 |
- |
3 |
12-116435001-T-A |
c.2604A>T |
p.P868= |
Synonymous |
15/31 |
- |
1 |
12-116435001-T-C |
c.2604A>G |
p.P868= |
Synonymous |
15/31 |
- |
2 |
12-116435001-T-G |
c.2604A>C |
p.P868= |
Synonymous |
15/31 |
- |
1 |
12-116435003-G-C |
c.2602C>G |
p.P868A |
Missense |
15/31 |
- |
1 |
12-116435003-G-T |
c.2602C>A |
p.P868T |
Missense |
15/31 |
- |
1 |
12-116435005-G-A |
c.2600C>T |
p.T867I |
Missense |
15/31 |
- |
3 |
12-116435007-G-A |
c.2598C>T |
p.P866= |
Synonymous |
15/31 |
- |
1 |
12-116435007-G-C |
c.2598C>G |
p.P866= |
Synonymous |
15/31 |
- |
1 |
12-116435007-G-T |
c.2598C>A |
p.P866= |
Synonymous |
15/31 |
- |
1 |
12-116435008-G-A |
c.2597C>T |
p.P866L |
Missense |
15/31 |
- |
9 |
12-116435008-G-T |
c.2597C>A |
p.P866H |
Missense |
15/31 |
- |
1 |
12-116435009-G-A |
c.2596C>T |
p.P866S |
Missense |
15/31 |
- |
10 |
12-116435009-G-C |
c.2596C>G |
p.P866A |
Missense |
15/31 |
- |
4 |
12-116435014-A-T |
c.2591T>A |
p.M864K |
Missense |
15/31 |
- |
2 |
12-116435015-T-A |
c.2590A>T |
p.M864L |
Missense |
15/31 |
- |
4 |
12-116435015-T-C |
c.2590A>G |
p.M864V |
Missense |
15/31 |
- |
1 |
12-116435017-C-T |
c.2588G>A |
p.R863K |
Missense |
15/31 |
- |
2 |
12-116435017-CT-TA |
c.2587_2588delinsTA |
p.R863* |
Nonsense |
15/31 |
- |
1 |
12-116435025-G-A |
c.2580C>T |
p.D860= |
Synonymous |
15/31 |
- |
2 |
12-116435026-T-C |
c.2579A>G |
p.D860G |
Missense |
15/31 |
- |
9 |
12-116435028-T-A |
c.2577A>T |
p.A859= |
Synonymous |
15/31 |
- |
1 |
12-116435028-T-C |
c.2577A>G |
p.A859= |
Synonymous |
15/31 |
- |
1 |
12-116435028-T-G |
c.2577A>C |
p.A859= |
Synonymous |
15/31 |
- |
1 |
12-116435032-ACTG-A |
c.2570_2572del |
p.T857_V858delinsI |
SpliceAcceptorDeletion |
15/31 |
14/30 |
1 |
12-116435109-A-G |
c.2570-74T>C |
- |
IntronicSNV |
- |
14/30 |
1 |
12-116435109-A-T |
c.2570-74T>A |
- |
IntronicSNV |
- |
14/30 |
1 |
12-116440271-G-A |
c.2569+537C>T |
- |
IntronicSNV |
- |
14/30 |
1 |
12-116440810-G-T |
c.2567C>A |
p.P856Q |
Missense |
14/31 |
- |
1 |
12-116440811-G-C |
c.2566C>G |
p.P856A |
Missense |
14/31 |
- |
4 |
12-116440815-A-C |
c.2562T>G |
p.Y854* |
Nonsense |
14/31 |
- |
1 |
12-116440815-A-T |
c.2562T>A |
p.Y854* |
Nonsense |
14/31 |
- |
1 |
12-116440818-A-C |
c.2559T>G |
p.P853= |
Synonymous |
14/31 |
- |
2 |
12-116440818-A-G |
c.2559T>C |
p.P853= |
Synonymous |
14/31 |
- |
2 |
12-116440818-A-T |
c.2559T>A |
p.P853= |
Synonymous |
14/31 |
- |
2 |
12-116440820-G-A |
c.2557C>T |
p.P853S |
Missense |
14/31 |
- |
3 |
12-116440823-C-G |
c.2554G>C |
p.V852L |
Missense |
14/31 |
- |
3 |
12-116440825-G-T |
c.2552C>A |
p.A851D |
Missense |
14/31 |
- |
1 |
12-116440828-G-A |
c.2549C>T |
p.A850V |
Missense |
14/31 |
- |
3 |
12-116440830-TCT-ACA |
c.2545_2547delinsTGT |
p.R849C |
Missense |
14/31 |
- |
2 |
12-116440831-C-T |
c.2546G>A |
p.R849K |
Missense |
14/31 |
- |
1 |
12-116440849-G-A |
c.2528C>T |
p.P843L |
Missense |
14/31 |
- |
1 |
12-116440850-G-A |
c.2527C>T |
p.P843S |
Missense |
14/31 |
- |
1 |
12-116440852-C-T |
c.2525G>A |
p.R842Q |
Missense |
14/31 |
- |
2 |
12-116440853-G-A |
c.2524C>T |
p.R842* |
Nonsense |
14/31 |
- |
4 |
12-116440854-G-GACCACCACCAGATTTGACTCCGCGAGC |
c.2522_2523insGCTCGCGGAGTCAAATCTGGTGGTGGT |
p.D841delinsELAESNLVVV |
MultiAAMissense |
14/31 |
- |
1 |
12-116440860-T-A |
c.2517A>T |
p.T839= |
Synonymous |
14/31 |
- |
1 |
12-116440860-T-C |
c.2517A>G |
p.T839= |
Synonymous |
14/31 |
- |
1 |
12-116440860-T-G |
c.2517A>C |
p.T839= |
Synonymous |
14/31 |
- |
1 |
12-116440861-G-A |
c.2516C>T |
p.T839I |
Missense |
14/31 |
- |
1 |
12-116440865-C-G |
c.2512G>C |
p.G838R |
Missense |
14/31 |
- |
1 |
12-116440865-C-T |
c.2512G>A |
p.G838R |
Missense |
14/31 |
- |
2 |
12-116440867-A-G |
c.2510T>C |
p.V837A |
Missense |
14/31 |
- |
3 |
12-116440870-G-A |
c.2507C>T |
p.A836V |
Missense |
14/31 |
- |
1 |
12-116440873-G-A |
c.2504C>T |
p.P835L |
Missense |
14/31 |
- |
1 |
12-116440872-AG-A |
c.2504del |
p.P835Lfs*46 |
Frameshift |
14/31 |
- |
1 |
12-116440874-G-A |
c.2503C>T |
p.P835S |
Missense |
14/31 |
- |
1 |
12-116440882-G-C |
c.2495C>G |
p.S832* |
Nonsense |
14/31 |
- |
1 |
12-116440882-G-T |
c.2495C>A |
p.S832* |
Nonsense |
14/31 |
- |
1 |
12-116440890-C-A |
c.2487G>T |
p.L829= |
Synonymous |
14/31 |
- |
1 |
12-116440890-C-G |
c.2487G>C |
p.L829= |
Synonymous |
14/31 |
- |
1 |
12-116440890-C-T |
c.2487G>A |
p.L829= |
Synonymous |
14/31 |
- |
1 |
12-116440892-G-A |
c.2485C>T |
p.L829= |
Synonymous |
14/31 |
- |
1 |
12-116440897-G-A |
c.2480C>T |
p.P827L |
Missense |
14/31 |
- |
2 |
12-116440899-T-G |
c.2478A>C |
p.S826= |
Synonymous |
14/31 |
- |
1 |
12-116440900-G-A |
c.2477C>T |
p.S826L |
Missense |
14/31 |
- |
1 |
12-116440903-A-T |
c.2474T>A |
p.V825E |
Missense |
14/31 |
- |
2 |
12-116440904-C-T |
c.2473G>A |
p.V825I |
Missense |
14/31 |
- |
1 |
12-116443463-A-G |
c.2469+211T>C |
- |
IntronicSNV |
- |
13/30 |
1 |
12-116443678-A-T |
c.2465T>A |
p.L822H |
Missense |
13/31 |
- |
1 |
12-116443681-T-A |
c.2462A>T |
p.E821V |
Missense |
13/31 |
- |
1 |
12-116443682-C-A |
c.2461G>T |
p.E821* |
Nonsense |
13/31 |
- |
1 |
12-116443682-C-T |
c.2461G>A |
p.E821K |
Missense |
13/31 |
- |
2 |
12-116443685-C-A |
c.2458G>T |
p.D820Y |
Missense |
13/31 |
- |
2 |
12-116443685-C-T |
c.2458G>A |
p.D820N |
Missense |
13/31 |
- |
1 |
12-116443686-G-A |
c.2457C>T |
p.D819= |
Synonymous |
13/31 |
- |
1 |
12-116443688-C-T |
c.2455G>A |
p.D819N |
Missense |
13/31 |
- |
1 |
12-116443690-T-A |
c.2453A>T |
p.D818V |
Missense |
13/31 |
- |
2 |
12-116443692-A-C |
c.2451T>G |
p.S817= |
Synonymous |
13/31 |
- |
1 |
12-116443692-A-G |
c.2451T>C |
p.S817= |
Synonymous |
13/31 |
- |
1 |
12-116443692-A-T |
c.2451T>A |
p.S817= |
Synonymous |
13/31 |
- |
1 |
12-116443693-G-A |
c.2450C>T |
p.S817F |
Missense |
13/31 |
- |
4 |
12-116443695-A-G |
c.2448T>C |
p.N816= |
Synonymous |
13/31 |
- |
1 |
12-116443697-T-A |
c.2446A>T |
p.N816Y |
Missense |
13/31 |
- |
1 |
12-116443698-A-C |
c.2445T>G |
p.D815E |
Missense |
13/31 |
- |
1 |
12-116443717-T-C |
c.2426A>G |
p.D809G |
Missense |
13/31 |
- |
1 |
12-116443717-T-G |
c.2426A>C |
p.D809A |
Missense |
13/31 |
- |
1 |
12-116443723-A-T |
c.2420T>A |
p.L807Q |
Missense |
13/31 |
- |
1 |
12-116443724-G-A |
c.2419C>T |
p.L807= |
Synonymous |
13/31 |
- |
1 |
12-116443732-G-A |
c.2411C>T |
p.A804V |
Missense |
13/31 |
- |
1 |
12-116443733-C-T |
c.2410G>A |
p.A804T |
Missense |
13/31 |
- |
1 |
12-116443739-C-T |
c.2404G>A |
p.D802N |
Missense |
13/31 |
- |
1 |
12-116443743-T-TA |
c.2399dup |
p.T801Nfs*9 |
Frameshift |
13/31 |
- |
2 |
12-116443747-T-A |
c.2396A>T |
p.Q799L |
Missense |
13/31 |
- |
1 |
12-116443746-CTGTG-C |
c.2393_2396del |
p.T798Rfs*2 |
Frameshift |
13/31 |
- |
4 |
12-116443746-CTG-C |
c.2395_2396del |
p.Q799Gfs*10 |
Frameshift |
13/31 |
- |
3 |
12-116443750-G-A |
c.2393C>T |
p.T798I |
Missense |
13/31 |
- |
2 |
12-116443752-A-C |
c.2391T>G |
p.L797= |
Synonymous |
13/31 |
- |
1 |
12-116443752-A-G |
c.2391T>C |
p.L797= |
Synonymous |
13/31 |
- |
2 |
12-116443752-A-T |
c.2391T>A |
p.L797= |
Synonymous |
13/31 |
- |
1 |
12-116443759-C-T |
c.2384G>A |
p.S795N |
Missense |
13/31 |
- |
1 |
12-116443765-C-T |
c.2378G>A |
p.G793D |
Missense |
13/31 |
- |
1 |
12-116443768-G-C |
c.2375C>G |
p.A792G |
Missense |
13/31 |
- |
1 |
12-116443769-C-T |
c.2374G>A |
p.A792T |
Missense |
13/31 |
- |
1 |
12-116443771-C-A |
c.2372G>T |
p.R791I |
Missense |
13/31 |
- |
2 |
12-116443771-C-G |
c.2372G>C |
p.R791T |
Missense |
13/31 |
- |
1 |
12-116443773-G-A |
c.2370C>T |
p.G790= |
Synonymous |
13/31 |
- |
1 |
12-116443773-G-C |
c.2370C>G |
p.G790= |
Synonymous |
13/31 |
- |
1 |
12-116443773-G-T |
c.2370C>A |
p.G790= |
Synonymous |
13/31 |
- |
1 |
12-116443777-G-A |
c.2366C>T |
p.A789V |
Missense |
13/31 |
- |
1 |
12-116443783-T-C |
c.2360A>G |
p.N787S |
Missense |
13/31 |
- |
1 |
12-116443791-C-A |
c.2352G>T |
p.R784= |
Synonymous |
13/31 |
- |
2 |
12-116443793-G-C |
c.2350C>G |
p.R784G |
Missense |
13/31 |
- |
1 |
12-116443798-T-C |
c.2345A>G |
p.D782G |
Missense |
13/31 |
- |
1 |
12-116443868-C-T |
c.2345-70G>A |
- |
IntronicSNV |
- |
12/30 |
1 |
12-116444125-G-A |
c.2330C>T |
p.S777F |
Missense |
12/31 |
- |
1 |
12-116444135-T-C |
c.2320A>G |
p.I774V |
Missense |
12/31 |
- |
1 |
12-116444137-GAC-G |
c.2316_2317del |
p.M772Ifs*8 |
Frameshift |
12/31 |
- |
1 |
12-116444139-C-A |
c.2316G>T |
p.M772I |
Missense |
12/31 |
- |
1 |
12-116444139-C-G |
c.2316G>C |
p.M772I |
Missense |
12/31 |
- |
1 |
12-116444139-C-T |
c.2316G>A |
p.M772I |
Missense |
12/31 |
- |
1 |
12-116444145-A-C |
c.2310T>G |
p.N770K |
Missense |
12/31 |
- |
4 |
12-116444145-A-T |
c.2310T>A |
p.N770K |
Missense |
12/31 |
- |
2 |
12-116444151-C-A |
c.2304G>T |
p.G768= |
Synonymous |
12/31 |
- |
2 |
12-116444151-C-G |
c.2304G>C |
p.G768= |
Synonymous |
12/31 |
- |
2 |
12-116444151-C-T |
c.2304G>A |
p.G768= |
Synonymous |
12/31 |
- |
3 |
12-116444156-C-T |
c.2299G>A |
p.D767N |
Missense |
12/31 |
- |
1 |
12-116444158-G-T |
c.2297C>A |
p.P766H |
Missense |
12/31 |
- |
1 |
12-116444160-C-A |
c.2295G>T |
p.V765= |
Synonymous |
12/31 |
- |
4 |
12-116444160-C-G |
c.2295G>C |
p.V765= |
Synonymous |
12/31 |
- |
1 |
12-116444160-C-T |
c.2295G>A |
p.V765= |
Synonymous |
12/31 |
- |
3 |
12-116444162-C-A |
c.2293G>T |
p.V765L |
Missense |
12/31 |
- |
1 |
12-116444162-C-G |
c.2293G>C |
p.V765L |
Missense |
12/31 |
- |
1 |
12-116444162-C-T |
c.2293G>A |
p.V765M |
Missense |
12/31 |
- |
1 |
12-116444163-C-A |
c.2292G>T |
p.P764= |
Synonymous |
12/31 |
- |
1 |
12-116444163-C-G |
c.2292G>C |
p.P764= |
Synonymous |
12/31 |
- |
1 |
12-116444163-C-T |
c.2292G>A |
p.P764= |
Synonymous |
12/31 |
- |
1 |
12-116444164-G-GC |
c.2290_2291insG |
p.P764Rfs*4 |
Frameshift |
12/31 |
- |
1 |
12-116444164-G-T |
c.2291C>A |
p.P764Q |
Missense |
12/31 |
- |
1 |
12-116444165-G-T |
c.2290C>A |
p.P764T |
Missense |
12/31 |
- |
1 |
12-116444166-C-A |
c.2289G>T |
p.T763= |
Synonymous |
12/31 |
- |
3 |
12-116444166-C-G |
c.2289G>C |
p.T763= |
Synonymous |
12/31 |
- |
3 |
12-116444166-C-T |
c.2289G>A |
p.T763= |
Synonymous |
12/31 |
- |
3 |
12-116444167-G-A |
c.2288C>T |
p.T763M |
Missense |
12/31 |
- |
1 |
12-116444169-G-A |
c.2286C>T |
p.S762= |
Synonymous |
12/31 |
- |
1 |
12-116444169-G-C |
c.2286C>G |
p.S762= |
Synonymous |
12/31 |
- |
1 |
12-116444169-G-T |
c.2286C>A |
p.S762= |
Synonymous |
12/31 |
- |
1 |
12-116444170-G-A |
c.2285C>T |
p.S762F |
Missense |
12/31 |
- |
4 |
12-116444176-C-T |
c.2279G>A |
p.G760D |
Missense |
12/31 |
- |
2 |
12-116444178-T-A |
c.2277A>T |
p.P759= |
Synonymous |
12/31 |
- |
1 |
12-116444178-T-C |
c.2277A>G |
p.P759= |
Synonymous |
12/31 |
- |
1 |
12-116444178-T-G |
c.2277A>C |
p.P759= |
Synonymous |
12/31 |
- |
1 |
12-116444179-G-C |
c.2276C>G |
p.P759R |
Missense |
12/31 |
- |
2 |
12-116444180-G-A |
c.2275C>T |
p.P759S |
Missense |
12/31 |
- |
2 |
12-116444181-T-A |
c.2274A>T |
p.T758= |
Synonymous |
12/31 |
- |
1 |
12-116444181-T-C |
c.2274A>G |
p.T758= |
Synonymous |
12/31 |
- |
1 |
12-116444181-T-G |
c.2274A>C |
p.T758= |
Synonymous |
12/31 |
- |
1 |
12-116444182-G-A |
c.2273C>T |
p.T758I |
Missense |
12/31 |
- |
1 |
12-116444184-A-C |
c.2271T>G |
p.T757= |
Synonymous |
12/31 |
- |
1 |
12-116444184-A-G |
c.2271T>C |
p.T757= |
Synonymous |
12/31 |
- |
1 |
12-116444184-A-T |
c.2271T>A |
p.T757= |
Synonymous |
12/31 |
- |
1 |
12-116444185-G-T |
c.2270C>A |
p.T757N |
Missense |
12/31 |
- |
1 |
12-116444186-T-C |
c.2269A>G |
p.T757A |
Missense |
12/31 |
- |
2 |
12-116444188-A-G |
c.2267T>C |
p.V756A |
Missense |
12/31 |
- |
1 |
12-116444189-C-G |
c.2266G>C |
p.V756L |
Missense |
12/31 |
- |
1 |
12-116444191-T-C |
c.2264A>G |
p.D755G |
Missense |
12/31 |
- |
2 |
12-116444192-C-T |
c.2263G>A |
p.D755N |
Missense |
12/31 |
- |
1 |
12-116444193-C-T |
c.2262G>A |
p.K754= |
Synonymous |
12/31 |
- |
1 |
12-116444196-G-A |
c.2259C>T |
p.T753= |
Synonymous |
12/31 |
- |
1 |
12-116444200-C-G |
c.2255G>C |
p.G752A |
Missense |
12/31 |
- |
1 |
12-116444203-A-C |
c.2252T>G |
p.F751C |
Missense |
12/31 |
- |
1 |
12-116444206-C-A |
c.2249G>T |
p.G750V |
Missense |
12/31 |
- |
1 |
12-116444207-C-G |
c.2248G>C |
p.G750R |
Missense |
12/31 |
- |
1 |
12-116444207-C-T |
c.2248G>A |
p.G750R |
Missense |
12/31 |
- |
1 |
12-116444209-T-C |
c.2246A>G |
p.D749G |
Missense |
12/31 |
- |
1 |
12-116444214-TG-AA |
c.2240_2241delinsTT |
p.S747F |
Missense |
12/31 |
- |
1 |
12-116444214-TG-AT |
c.2240_2241delinsAT |
p.S747Y |
Missense |
12/31 |
- |
1 |
12-116444215-G-A |
c.2240C>T |
p.S747L |
Missense |
12/31 |
- |
1 |
12-116445064-T-C |
c.2238+152A>G |
- |
IntronicSNV |
- |
11/30 |
1 |
12-116445108-C-T |
c.2238+108G>A |
- |
IntronicSNV |
- |
11/30 |
1 |
12-116445124-A-C |
c.2238+92T>G |
- |
IntronicSNV |
- |
11/30 |
1 |
12-116445211-G-A |
c.2238+5C>T |
- |
IntronicSNV |
- |
11/30 |
1 |
12-116445213-T-C |
c.2238+3A>G |
- |
IntronicSNV |
- |
11/30 |
1 |
12-116445217-T-C |
c.2237A>G |
p.K746R |
Missense |
11/31 |
- |
1 |
12-116445218-T-A |
c.2236A>T |
p.K746* |
Nonsense |
11/31 |
- |
1 |
12-116445221-T-C |
c.2233A>G |
p.N745D |
Missense |
11/31 |
- |
1 |
12-116445223-T-C |
c.2231A>G |
p.K744R |
Missense |
11/31 |
- |
2 |
12-116445226-T-C |
c.2228A>G |
p.K743R |
Missense |
11/31 |
- |
1 |
12-116445228-C-T |
c.2226G>A |
p.L742= |
Synonymous |
11/31 |
- |
3 |
12-116445233-A-T |
c.2221T>A |
p.S741T |
Missense |
11/31 |
- |
1 |
12-116445234-A-C |
c.2220T>G |
p.D740E |
Missense |
11/31 |
- |
1 |
12-116445235-T-C |
c.2219A>G |
p.D740G |
Missense |
11/31 |
- |
1 |
12-116445236-C-A |
c.2218G>T |
p.D740Y |
Missense |
11/31 |
- |
1 |
12-116445237-T-C |
c.2217A>G |
p.K739= |
Synonymous |
11/31 |
- |
1 |
12-116445239-T-C |
c.2215A>G |
p.K739E |
Missense |
11/31 |
- |
1 |
12-116445243-C-A |
c.2211G>T |
p.T737= |
Synonymous |
11/31 |
- |
1 |
12-116445243-C-G |
c.2211G>C |
p.T737= |
Synonymous |
11/31 |
- |
1 |
12-116445243-C-T |
c.2211G>A |
p.T737= |
Synonymous |
11/31 |
- |
1 |
12-116445244-G-A |
c.2210C>T |
p.T737M |
Missense |
11/31 |
- |
1 |
12-116445248-C-A |
c.2206G>T |
p.G736W |
Missense |
11/31 |
- |
1 |
12-116445261-C-T |
c.2193G>A |
p.K731= |
Synonymous |
11/31 |
- |
1 |
12-116445265-T-C |
c.2189A>G |
p.N730S |
Missense |
11/31 |
- |
1 |
12-116445265-T-G |
c.2189A>C |
p.N730T |
Missense |
11/31 |
- |
1 |
12-116445262-TTGTTGGC-T |
c.2185_2191del |
p.A729Rfs*12 |
Frameshift |
11/31 |
- |
3 |
12-116445274-A-C |
c.2180T>G |
p.F727C |
Missense |
11/31 |
- |
1 |
12-116445280-T-C |
c.2174A>G |
p.Y725C |
Missense |
11/31 |
- |
1 |
12-116445290-C-T |
c.2164G>A |
p.D722N |
Missense |
11/31 |
- |
1 |
12-116445291-A-T |
c.2163T>A |
p.G721= |
Synonymous |
11/31 |
- |
1 |
12-116445293-C-T |
c.2161G>A |
p.G721S |
Missense |
11/31 |
- |
1 |
12-116445296-C-T |
c.2158G>A |
p.D720N |
Missense |
11/31 |
- |
1 |
12-116445303-G-A |
c.2151C>T |
p.T717= |
Synonymous |
11/31 |
- |
1 |
12-116445304-G-A |
c.2150C>T |
p.T717I |
Missense |
11/31 |
- |
1 |
12-116445306-A-C |
c.2148T>G |
p.Y716* |
Nonsense |
11/31 |
- |
1 |
12-116445306-A-G |
c.2148T>C |
p.Y716= |
Synonymous |
11/31 |
- |
1 |
12-116445306-A-T |
c.2148T>A |
p.Y716* |
Nonsense |
11/31 |
- |
1 |
12-116445310-G-A |
c.2144C>T |
p.P715L |
Missense |
11/31 |
- |
1 |
12-116445312-G-C |
c.2142C>G |
p.D714E |
Missense |
11/31 |
- |
1 |
12-116445312-G-T |
c.2142C>A |
p.D714E |
Missense |
11/31 |
- |
1 |
12-116445313-T-C |
c.2141A>G |
p.D714G |
Missense |
11/31 |
- |
1 |
12-116445314-C-T |
c.2140G>A |
p.D714N |
Missense |
11/31 |
- |
1 |
12-116445316-T-C |
c.2138A>G |
p.N713S |
Missense |
11/31 |
- |
2 |
12-116445319-A-G |
c.2135T>C |
p.V712A |
Missense |
11/31 |
- |
1 |
12-116445319-A-T |
c.2135T>A |
p.V712E |
Missense |
11/31 |
- |
1 |
12-116445328-A-C |
c.2126T>G |
p.L709W |
Missense |
11/31 |
- |
1 |
12-116445331-CT-AG |
c.2122_2123inv |
p.S708L |
Missense |
11/31 |
- |
1 |
12-116445334-T-C |
c.2120A>G |
p.D707G |
Missense |
11/31 |
- |
1 |
12-116445335-C-T |
c.2119G>A |
p.D707N |
Missense |
11/31 |
- |
1 |
12-116445337-C-T |
c.2117G>A |
p.G706E |
Missense |
11/31 |
- |
3 |
12-116445338-C-G |
c.2116G>C |
p.G706R |
Missense |
11/31 |
- |
1 |
12-116445338-C-T |
c.2116G>A |
p.G706R |
Missense |
11/31 |
- |
2 |
12-116445339-AG-TT |
c.2114_2115delinsAA |
p.P705Q |
Missense |
11/31 |
- |
1 |
12-116445344-G-A |
c.2110C>T |
p.Q704* |
Nonsense |
11/31 |
- |
1 |
12-116445347-G-A |
c.2107C>T |
p.Q703* |
Nonsense |
11/31 |
- |
4 |
12-116445351-T-A |
c.2103A>T |
p.L701= |
Synonymous |
11/31 |
- |
1 |
12-116445351-T-C |
c.2103A>G |
p.L701= |
Synonymous |
11/31 |
- |
2 |
12-116445351-T-G |
c.2103A>C |
p.L701= |
Synonymous |
11/31 |
- |
1 |
12-116445353-G-A |
c.2101C>T |
p.L701= |
Synonymous |
11/31 |
- |
1 |
12-116445356-G-A |
c.2098C>T |
p.P700S |
Missense |
11/31 |
- |
2 |
12-116445358-A-G |
c.2096T>C |
p.L699S |
Missense |
11/31 |
- |
2 |
12-116445357-C-T |
c.2097G>A |
p.L699= |
Synonymous |
11/31 |
- |
1 |
12-116445359-A-G |
c.2095T>C |
p.L699= |
Synonymous |
11/31 |
- |
1 |
12-116445361-G-A |
c.2093C>T |
p.P698L |
Missense |
11/31 |
- |
1 |
12-116445365-C-A |
c.2089G>T |
p.D697Y |
Missense |
11/31 |
- |
1 |
12-116445377-G-A |
c.2077C>T |
p.L693F |
Missense |
11/31 |
- |
1 |
12-116445387-C-G |
c.2067G>C |
p.Q689H |
Missense |
11/31 |
- |
1 |
12-116445389-G-A |
c.2065C>T |
p.Q689* |
Nonsense |
11/31 |
- |
1 |
12-116445391-G-C |
c.2063C>G |
p.P688R |
Missense |
11/31 |
- |
1 |
12-116445394-T-C |
c.2060A>G |
p.Q687R |
Missense |
11/31 |
- |
1 |
12-116445395-G-A |
c.2059C>T |
p.Q687* |
Nonsense |
11/31 |
- |
2 |
12-116445398-T-G |
c.2056A>C |
p.K686Q |
Missense |
11/31 |
- |
4 |
12-116445399-G-A |
c.2055C>T |
p.D685= |
Synonymous |
11/31 |
- |
1 |
12-116445405-C-A |
c.2049G>T |
p.W683C |
Missense |
11/31 |
- |
1 |
12-116445408-G-A |
c.2046C>T |
p.I682= |
Synonymous |
11/31 |
- |
1 |
12-116445418-C-A |
c.2036G>T |
p.R679L |
Missense |
11/31 |
- |
3 |
12-116445419-G-T |
c.2035C>A |
p.R679= |
Synonymous |
11/31 |
- |
1 |
12-116445419-GT-G |
c.2034del |
p.K678Nfs*35 |
Frameshift |
11/31 |
- |
1 |
12-116445423-G-C |
c.2031C>G |
p.N677K |
Missense |
11/31 |
- |
1 |
12-116445423-G-T |
c.2031C>A |
p.N677K |
Missense |
11/31 |
- |
1 |
12-116445427-G-GC |
c.2026_2027insG |
p.P676Rfs*2 |
Frameshift |
11/31 |
- |
2 |
12-116445428-G-A |
c.2026C>T |
p.P676S |
Missense |
11/31 |
- |
1 |
12-116445428-G-GTTA |
c.2025_2026insTAA |
p.Q675_P676ins* |
InFrameInsertion |
11/31 |
- |
2 |
12-116445430-T-G |
c.2024A>C |
p.Q675P |
Missense |
11/31 |
- |
1 |
12-116445433-G-T |
c.2021C>A |
p.A674E |
Missense |
11/31 |
- |
1 |
12-116445435-T-A |
c.2019A>T |
p.L673F |
Missense |
11/31 |
- |
3 |
12-116445438-G-C |
c.2016C>G |
p.L672= |
Synonymous |
11/31 |
- |
1 |
12-116445439-A-C |
c.2015T>G |
p.L672R |
Missense |
11/31 |
- |
1 |
12-116445439-A-G |
c.2015T>C |
p.L672P |
Missense |
11/31 |
- |
1 |
12-116445441-T-A |
c.2013A>T |
p.R671S |
Missense |
11/31 |
- |
1 |
12-116445441-T-G |
c.2013A>C |
p.R671S |
Missense |
11/31 |
- |
1 |
12-116445443-T-A |
c.2013-2A>T |
- |
IntronicSNV |
- |
10/30 |
1 |
12-116445448-G-A |
c.2013-7C>T |
- |
IntronicSNV |
- |
10/30 |
1 |
12-116445450-C-A |
c.2013-9G>T |
- |
IntronicSNV |
- |
10/30 |
3 |
12-116446205-C-T |
c.2012+1G>A |
- |
IntronicSNV |
- |
10/30 |
1 |
12-116446214-T-A |
c.2004A>T |
p.A668= |
Synonymous |
10/31 |
- |
1 |
12-116446214-T-C |
c.2004A>G |
p.A668= |
Synonymous |
10/31 |
- |
1 |
12-116446214-T-G |
c.2004A>C |
p.A668= |
Synonymous |
10/31 |
- |
1 |
12-116446216-C-A |
c.2002G>T |
p.A668S |
Missense |
10/31 |
- |
1 |
12-116446220-GCTCT-G |
c.1994_1997del |
p.E665Afs*8 |
Frameshift |
10/31 |
- |
4 |
12-116446223-C-T |
c.1995G>A |
p.E665= |
Synonymous |
10/31 |
- |
1 |
12-116446225-C-T |
c.1993G>A |
p.E665K |
Missense |
10/31 |
- |
2 |
12-116446231-T-C |
c.1987A>G |
p.N663D |
Missense |
10/31 |
- |
1 |
12-116446238-C-A |
c.1980G>T |
p.M660I |
Missense |
10/31 |
- |
4 |
12-116446238-C-G |
c.1980G>C |
p.M660I |
Missense |
10/31 |
- |
1 |
12-116446238-C-T |
c.1980G>A |
p.M660I |
Missense |
10/31 |
- |
1 |
12-116446245-G-A |
c.1973C>T |
p.A658V |
Missense |
10/31 |
- |
2 |
12-116446245-G-T |
c.1973C>A |
p.A658D |
Missense |
10/31 |
- |
1 |
12-116446247-CA-C |
c.1971del |
p.D657Efs*6 |
Frameshift |
10/31 |
- |
1 |
12-116446248-T-A |
c.1970A>T |
p.D657V |
Missense |
10/31 |
- |
1 |
12-116446250-A-T |
c.1968T>A |
p.C656* |
Nonsense |
10/31 |
- |
1 |
12-116446252-A-C |
c.1966T>G |
p.C656G |
Missense |
10/31 |
- |
1 |
12-116446254-C-T |
c.1964G>A |
p.R655K |
Missense |
10/31 |
- |
2 |
12-116446265-G-A |
c.1953C>T |
p.L651= |
Synonymous |
10/31 |
- |
1 |
12-116446267-G-A |
c.1951C>T |
p.L651F |
Missense |
10/31 |
- |
1 |
12-116446269-CTCTGGAG-C |
c.1943_1949del |
p.P648Rfs*13 |
Frameshift |
10/31 |
- |
2 |
12-116446273-G-C |
c.1945C>G |
p.P649A |
Missense |
10/31 |
- |
1 |
12-116446276-G-T |
c.1942C>A |
p.P648T |
Missense |
10/31 |
- |
1 |
12-116446285-C-T |
c.1933G>A |
p.E645K |
Missense |
10/31 |
- |
2 |
12-116446287-G-A |
c.1931C>T |
p.A644V |
Missense |
10/31 |
- |
1 |
12-116446288-C-A |
c.1930G>T |
p.A644S |
Missense |
10/31 |
- |
2 |
12-116446288-C-T |
c.1930G>A |
p.A644T |
Missense |
10/31 |
- |
1 |
12-116446290-T-C |
c.1928A>G |
p.D643G |
Missense |
10/31 |
- |
1 |
12-116446291-C-G |
c.1927G>C |
p.D643H |
Missense |
10/31 |
- |
5 |
12-116446292-A-G |
c.1926T>C |
p.D642= |
Synonymous |
10/31 |
- |
2 |
12-116446294-C-G |
c.1924G>C |
p.D642H |
Missense |
10/31 |
- |
1 |
12-116446296-CT-AA |
c.1921_1922delinsTT |
p.S641F |
Missense |
10/31 |
- |
1 |
12-116446299-GG-AA |
c.1918_1919delinsTT |
p.P640F |
Missense |
10/31 |
- |
1 |
12-116446303-G-A |
c.1915C>T |
p.P639S |
Missense |
10/31 |
- |
2 |
12-116446303-G-C |
c.1915C>G |
p.P639A |
Missense |
10/31 |
- |
1 |
12-116446308-C-G |
c.1910G>C |
p.R637P |
Missense |
10/31 |
- |
2 |
12-116446309-G-A |
c.1909C>T |
p.R637C |
Missense |
10/31 |
- |
2 |
12-116446311-T-A |
c.1907A>T |
p.Y636F |
Missense |
10/31 |
- |
1 |
12-116446313-A-G |
c.1905T>C |
p.S635= |
Synonymous |
10/31 |
- |
2 |
12-116446314-C-T |
c.1904G>A |
p.S635N |
Missense |
10/31 |
- |
1 |
12-116446318-G-A |
c.1900C>T |
p.H634Y |
Missense |
10/31 |
- |
1 |
12-116446331-T-C |
c.1887A>G |
p.S629= |
Synonymous |
10/31 |
- |
1 |
12-116446338-T-C |
c.1880A>G |
p.E627G |
Missense |
10/31 |
- |
1 |
12-116446341-G-A |
c.1877C>T |
p.P626L |
Missense |
10/31 |
- |
2 |
12-116446342-G-A |
c.1876C>T |
p.P626S |
Missense |
10/31 |
- |
2 |
12-116446346-C-A |
c.1872G>T |
p.S624= |
Synonymous |
10/31 |
- |
1 |
12-116446346-C-G |
c.1872G>C |
p.S624= |
Synonymous |
10/31 |
- |
1 |
12-116446346-C-T |
c.1872G>A |
p.S624= |
Synonymous |
10/31 |
- |
1 |
12-116446347-G-A |
c.1871C>T |
p.S624L |
Missense |
10/31 |
- |
3 |
12-116446353-C-A |
c.1865G>T |
p.R622M |
Missense |
10/31 |
- |
1 |
12-116446353-C-G |
c.1865G>C |
p.R622T |
Missense |
10/31 |
- |
1 |
12-116446353-C-T |
c.1865G>A |
p.R622K |
Missense |
10/31 |
- |
1 |
12-116446354-T-C |
c.1864A>G |
p.R622G |
Missense |
10/31 |
- |
1 |
12-116446355-A-G |
c.1863T>C |
p.I621= |
Synonymous |
10/31 |
- |
1 |
12-116446358-CCC-TGTTCGAG |
c.1858_1860delinsCTCGAACA |
p.G620Lfs*45 |
Frameshift |
10/31 |
- |
1 |
12-116446358-C-T |
c.1860G>A |
p.G620= |
Synonymous |
10/31 |
- |
1 |
12-116446359-C-G |
c.1859G>C |
p.G620A |
Missense |
10/31 |
- |
1 |
12-116446363-A-C |
c.1855T>G |
p.C619G |
Missense |
10/31 |
- |
1 |
12-116446371-G-A |
c.1847C>T |
p.A616V |
Missense |
10/31 |
- |
4 |
12-116446372-C-T |
c.1846G>A |
p.A616T |
Missense |
10/31 |
- |
1 |
12-116446373-TG-CA |
c.1844_1845inv |
p.T615M |
Missense |
10/31 |
- |
1 |
12-116446374-G-A |
c.1844C>T |
p.T615I |
Missense |
10/31 |
- |
1 |
12-116446378-C-T |
c.1840G>A |
p.E614K |
Missense |
10/31 |
- |
1 |
12-116446380-C-T |
c.1838G>A |
p.S613N |
Missense |
10/31 |
- |
1 |
12-116446385-C-T |
c.1833G>A |
p.E611= |
Synonymous |
10/31 |
- |
1 |
12-116446389-G-A |
c.1829C>T |
p.A610V |
Missense |
10/31 |
- |
1 |
12-116446390-C-T |
c.1828G>A |
p.A610T |
Missense |
10/31 |
- |
1 |
12-116446394-G-A |
c.1824C>T |
p.L608= |
Synonymous |
10/31 |
- |
1 |
12-116446394-G-C |
c.1824C>G |
p.L608= |
Synonymous |
10/31 |
- |
2 |
12-116446394-G-T |
c.1824C>A |
p.L608= |
Synonymous |
10/31 |
- |
1 |
12-116446398-G-A |
c.1820C>T |
p.P607L |
Missense |
10/31 |
- |
1 |
12-116446398-G-T |
c.1820C>A |
p.P607H |
Missense |
10/31 |
- |
2 |
12-116446399-G-T |
c.1819C>A |
p.P607T |
Missense |
10/31 |
- |
1 |
12-116446402-G-C |
c.1816C>G |
p.L606V |
Missense |
10/31 |
- |
1 |
12-116446403-TCT-ACA |
c.1813_1815delinsTGT |
p.R605C |
Missense |
10/31 |
- |
1 |
12-116446403-TCT-ATG |
c.1813_1815delinsCAT |
p.R605H |
Missense |
10/31 |
- |
1 |
12-116446404-C-T |
c.1814G>A |
p.R605K |
Missense |
10/31 |
- |
1 |
12-116446411-C-G |
c.1807G>C |
p.G603R |
Missense |
10/31 |
- |
1 |
12-116446411-C-T |
c.1807G>A |
p.G603S |
Missense |
10/31 |
- |
2 |
12-116446414-C-T |
c.1804G>A |
p.V602I |
Missense |
10/31 |
- |
3 |
12-116446415-G-A |
c.1803C>T |
p.L601= |
Synonymous |
10/31 |
- |
1 |
12-116446417-G-C |
c.1801C>G |
p.L601V |
Missense |
10/31 |
- |
1 |
12-116446418-GA-CT |
c.1799_1800delinsAG |
p.V600E |
Missense |
10/31 |
- |
1 |
12-116446425-CT-TG |
c.1792_1793delinsCA |
p.R598Q |
Missense |
10/31 |
- |
1 |
12-116446429-C-T |
c.1789G>A |
p.D597N |
Missense |
10/31 |
- |
1 |
12-116446432-C-G |
c.1786G>C |
p.D596H |
Missense |
10/31 |
- |
2 |
12-116446433-CAG-AAA |
c.1783_1785delinsTTT |
p.L595F |
Missense |
10/31 |
- |
2 |
12-116446437-G-A |
c.1781C>T |
p.T594I |
Missense |
10/31 |
- |
1 |
12-116446437-G-C |
c.1781C>G |
p.T594S |
Missense |
10/31 |
- |
1 |
12-116446438-T-A |
c.1780A>T |
p.T594S |
Missense |
10/31 |
- |
1 |
12-116446438-T-C |
c.1780A>G |
p.T594A |
Missense |
10/31 |
- |
1 |
12-116446439-A-C |
c.1779T>G |
p.S593= |
Synonymous |
10/31 |
- |
1 |
12-116446439-A-G |
c.1779T>C |
p.S593= |
Synonymous |
10/31 |
- |
1 |
12-116446439-A-T |
c.1779T>A |
p.S593= |
Synonymous |
10/31 |
- |
1 |
12-116446440-GA-CC |
c.1777_1778delinsGG |
p.S593G |
Missense |
10/31 |
- |
1 |
12-116446445-C-A |
c.1773G>T |
p.Q591H |
Missense |
10/31 |
- |
1 |
12-116446445-C-T |
c.1773G>A |
p.Q591= |
Synonymous |
10/31 |
- |
16 |
12-116446449-T-C |
c.1769A>G |
p.Q590R |
Missense |
10/31 |
- |
2 |
12-116446450-G-T |
c.1768C>A |
p.Q590K |
Missense |
10/31 |
- |
1 |
12-116446453-G-A |
c.1765C>T |
p.L589F |
Missense |
10/31 |
- |
1 |
12-116446460-T-A |
c.1758A>T |
p.G586= |
Synonymous |
10/31 |
- |
1 |
12-116446460-T-C |
c.1758A>G |
p.G586= |
Synonymous |
10/31 |
- |
1 |
12-116446460-T-G |
c.1758A>C |
p.G586= |
Synonymous |
10/31 |
- |
1 |
12-116446461-C-T |
c.1757G>A |
p.G586E |
Missense |
10/31 |
- |
1 |
12-116446462-C-A |
c.1756G>T |
p.G586* |
Nonsense |
10/31 |
- |
1 |
12-116446463-A-C |
c.1755T>G |
p.N585K |
Missense |
10/31 |
- |
1 |
12-116446463-A-T |
c.1755T>A |
p.N585K |
Missense |
10/31 |
- |
1 |
12-116446464-T-C |
c.1754A>G |
p.N585S |
Missense |
10/31 |
- |
1 |
12-116446471-A-G |
c.1747T>C |
p.Y583H |
Missense |
10/31 |
- |
1 |
12-116446472-A-C |
c.1746T>G |
p.L582= |
Synonymous |
10/31 |
- |
1 |
12-116446472-A-G |
c.1746T>C |
p.L582= |
Synonymous |
10/31 |
- |
1 |
12-116446472-A-T |
c.1746T>A |
p.L582= |
Synonymous |
10/31 |
- |
1 |
12-116446474-G-A |
c.1744C>T |
p.L582F |
Missense |
10/31 |
- |
3 |
12-116446478-T-A |
c.1740A>T |
p.P580= |
Synonymous |
10/31 |
- |
1 |
12-116446478-T-C |
c.1740A>G |
p.P580= |
Synonymous |
10/31 |
- |
1 |
12-116446478-T-G |
c.1740A>C |
p.P580= |
Synonymous |
10/31 |
- |
1 |
12-116446479-G-A |
c.1739C>T |
p.P580L |
Missense |
10/31 |
- |
1 |
12-116446480-G-A |
c.1738C>T |
p.P580S |
Missense |
10/31 |
- |
2 |
12-116446486-C-T |
c.1732G>A |
p.V578M |
Missense |
10/31 |
- |
1 |
12-116446488-G-T |
c.1730C>A |
p.P577H |
Missense |
10/31 |
- |
2 |
12-116446490-G-A |
c.1728C>T |
p.V576= |
Synonymous |
10/31 |
- |
1 |
12-116446494-G-A |
c.1724C>T |
p.S575L |
Missense |
10/31 |
- |
1 |
12-116446494-G-C |
c.1724C>G |
p.S575W |
Missense |
10/31 |
- |
1 |
12-116446494-G-T |
c.1724C>A |
p.S575* |
Nonsense |
10/31 |
- |
1 |
12-116446497-G-A |
c.1721C>T |
p.P574L |
Missense |
10/31 |
- |
1 |
12-116446502-G-A |
c.1716C>T |
p.D572= |
Synonymous |
10/31 |
- |
1 |
12-116446502-G-T |
c.1716C>A |
p.D572E |
Missense |
10/31 |
- |
1 |
12-116446504-C-G |
c.1714G>C |
p.D572H |
Missense |
10/31 |
- |
1 |
12-116446509-C-T |
c.1709G>A |
p.S570N |
Missense |
10/31 |
- |
1 |
12-116446508-ACT-A |
c.1708_1709del |
p.S570Ffs*27 |
Frameshift |
10/31 |
- |
4 |
12-116446516-T-C |
c.1702A>G |
p.T568A |
Missense |
10/31 |
- |
2 |
12-116446517-T-C |
c.1701A>G |
p.E567= |
Synonymous |
10/31 |
- |
1 |
12-116446521-T-A |
c.1697A>T |
p.Q566L |
Missense |
10/31 |
- |
1 |
12-116446526-TC-AT |
c.1691_1692delinsAT |
p.R564H |
Missense |
10/31 |
- |
1 |
12-116446526-TCG-ACA |
c.1690_1692delinsTGT |
p.R564C |
Missense |
10/31 |
- |
1 |
12-116446527-C-T |
c.1691G>A |
p.R564Q |
Missense |
10/31 |
- |
3 |
12-116446528-G-A |
c.1690C>T |
p.R564* |
Nonsense |
10/31 |
- |
8 |
12-116446532-C-T |
c.1686G>A |
p.Q562= |
Synonymous |
10/31 |
- |
1 |
12-116446534-G-T |
c.1684C>A |
p.Q562K |
Missense |
10/31 |
- |
1 |
12-116446542-A-T |
c.1676T>A |
p.L559H |
Missense |
10/31 |
- |
1 |
12-116446545-G-A |
c.1673C>T |
p.T558I |
Missense |
10/31 |
- |
1 |
12-116446548-G-A |
c.1670C>T |
p.P557L |
Missense |
10/31 |
- |
1 |
12-116446557-G-T |
c.1661C>A |
p.P554H |
Missense |
10/31 |
- |
1 |
12-116446558-G-A |
c.1660C>T |
p.P554S |
Missense |
10/31 |
- |
3 |
12-116446558-G-C |
c.1660C>G |
p.P554A |
Missense |
10/31 |
- |
1 |
12-116446560-G-A |
c.1658C>T |
p.S553F |
Missense |
10/31 |
- |
2 |
12-116446560-G-C |
c.1658C>G |
p.S553C |
Missense |
10/31 |
- |
1 |
12-116446563-A-G |
c.1655T>C |
p.I552T |
Missense |
10/31 |
- |
1 |
12-116446570-A-C |
c.1648T>G |
p.S550A |
Missense |
10/31 |
- |
1 |
12-116446573-G-T |
c.1645C>A |
p.H549N |
Missense |
10/31 |
- |
1 |
12-116446575-G-A |
c.1643C>T |
p.P548L |
Missense |
10/31 |
- |
1 |
12-116446577-T-A |
c.1641A>T |
p.S547= |
Synonymous |
10/31 |
- |
3 |
12-116446577-T-C |
c.1641A>G |
p.S547= |
Synonymous |
10/31 |
- |
3 |
12-116446577-T-G |
c.1641A>C |
p.S547= |
Synonymous |
10/31 |
- |
2 |
12-116446578-G-A |
c.1640C>T |
p.S547L |
Missense |
10/31 |
- |
1 |
12-116446582-C-T |
c.1636G>A |
p.D546N |
Missense |
10/31 |
- |
1 |
12-116446583-C-A |
c.1635G>T |
p.M545I |
Missense |
10/31 |
- |
1 |
12-116446583-C-G |
c.1635G>C |
p.M545I |
Missense |
10/31 |
- |
1 |
12-116446583-C-T |
c.1635G>A |
p.M545I |
Missense |
10/31 |
- |
2 |
12-116446584-CA-C |
c.1634del |
p.M545Rfs*34 |
Frameshift |
10/31 |
- |
1 |
12-116446586-A-AT |
c.1631_1632insA |
p.M545Yfs*53 |
Frameshift |
10/31 |
- |
1 |
12-116446586-A-T |
c.1632T>A |
p.P544= |
Synonymous |
10/31 |
- |
1 |
12-116446587-G-A |
c.1631C>T |
p.P544L |
Missense |
10/31 |
- |
1 |
12-116446588-G-A |
c.1630C>T |
p.P544S |
Missense |
10/31 |
- |
2 |
12-116446588-G-T |
c.1630C>A |
p.P544T |
Missense |
10/31 |
- |
1 |
12-116446592-C-A |
c.1626G>T |
p.L542= |
Synonymous |
10/31 |
- |
1 |
12-116446592-C-G |
c.1626G>C |
p.L542= |
Synonymous |
10/31 |
- |
1 |
12-116446592-C-T |
c.1626G>A |
p.L542= |
Synonymous |
10/31 |
- |
2 |
12-116446594-G-A |
c.1624C>T |
p.L542= |
Synonymous |
10/31 |
- |
1 |
12-116446595-A-C |
c.1623T>G |
p.N541K |
Missense |
10/31 |
- |
1 |
12-116446595-A-T |
c.1623T>A |
p.N541K |
Missense |
10/31 |
- |
1 |
12-116446596-T-C |
c.1622A>G |
p.N541S |
Missense |
10/31 |
- |
1 |
12-116446598-C-A |
c.1620G>T |
p.M540I |
Missense |
10/31 |
- |
1 |
12-116446598-C-G |
c.1620G>C |
p.M540I |
Missense |
10/31 |
- |
1 |
12-116446598-C-T |
c.1620G>A |
p.M540I |
Missense |
10/31 |
- |
1 |
12-116446601-T-G |
c.1617A>C |
p.Q539H |
Missense |
10/31 |
- |
1 |
12-116446604-C-A |
c.1614G>T |
p.K538N |
Missense |
10/31 |
- |
2 |
12-116446604-GCTT-G |
c.1612_1614del |
p.K538del |
InFrameDeletion |
10/31 |
- |
1 |
12-116446608-C-A |
c.1610G>T |
p.S537I |
Missense |
10/31 |
- |
1 |
12-116446616-T-C |
c.1602A>G |
p.R534= |
Synonymous |
10/31 |
- |
1 |
12-116446618-T-G |
c.1600A>C |
p.R534= |
Synonymous |
10/31 |
- |
1 |
12-116446617-C-A |
c.1601G>T |
p.R534I |
Missense |
10/31 |
- |
2 |
12-116446617-C-T |
c.1601G>A |
p.R534K |
Missense |
10/31 |
- |
1 |
12-116446617-CT-TG |
c.1600_1601delinsCA |
p.R534Q |
Missense |
10/31 |
- |
1 |
12-116446618-T-C |
c.1600A>G |
p.R534G |
Missense |
10/31 |
- |
1 |
12-116446619-G-C |
c.1599C>G |
p.S533= |
Synonymous |
10/31 |
- |
1 |
12-116446622-A-G |
c.1596T>C |
p.P532= |
Synonymous |
10/31 |
- |
2 |
12-116446627-C-G |
c.1591G>C |
p.V531L |
Missense |
10/31 |
- |
1 |
12-116446628-G-A |
c.1590C>T |
p.A530= |
Synonymous |
10/31 |
- |
3 |
12-116446629-G-A |
c.1589C>T |
p.A530V |
Missense |
10/31 |
- |
1 |
12-116446629-G-GT |
c.1588_1589insA |
p.A530Dfs*68 |
Frameshift |
10/31 |
- |
1 |
12-116446630-C-A |
c.1588G>T |
p.A530S |
Missense |
10/31 |
- |
1 |
12-116446631-C-A |
c.1587G>T |
p.M529I |
Missense |
10/31 |
- |
1 |
12-116446636-G-A |
c.1582C>T |
p.Q528* |
Nonsense |
10/31 |
- |
3 |
12-116446649-C-A |
c.1569G>T |
p.R523S |
Missense |
10/31 |
- |
2 |
12-116446649-C-G |
c.1569G>C |
p.R523S |
Missense |
10/31 |
- |
1 |
12-116446648-T-TC |
c.1569dup |
p.K524Efs*3 |
Frameshift |
10/31 |
- |
1 |
12-116446656-GC-G |
c.1562del |
p.S521Tfs*20 |
Frameshift |
10/31 |
- |
1 |
12-116446657-T-A |
c.1561A>T |
p.S521C |
Missense |
10/31 |
- |
2 |
12-116446661-C-A |
c.1557G>T |
p.V519= |
Synonymous |
10/31 |
- |
2 |
12-116446661-C-G |
c.1557G>C |
p.V519= |
Synonymous |
10/31 |
- |
1 |
12-116446661-C-T |
c.1557G>A |
p.V519= |
Synonymous |
10/31 |
- |
1 |
12-116446666-C-CCT |
c.1551_1552insAG |
p.E518Rfs*24 |
Frameshift |
10/31 |
- |
1 |
12-116446669-AAG-A |
c.1548_1549del |
p.L517Rfs*4 |
Frameshift |
10/31 |
- |
1 |
12-116446670-G-A |
c.1548C>T |
p.S516= |
Synonymous |
10/31 |
- |
1 |
12-116446675-A-T |
c.1543T>A |
p.S515T |
Missense |
10/31 |
- |
1 |
12-116446678-C-CA |
c.1539_1540insT |
p.D514* |
Nonsense |
10/31 |
- |
1 |
12-116446679-T-A |
c.1539A>T |
p.I513= |
Synonymous |
10/31 |
- |
2 |
12-116446679-T-G |
c.1539A>C |
p.I513= |
Synonymous |
10/31 |
- |
2 |
12-116446685-T-A |
c.1533A>T |
p.A511= |
Synonymous |
10/31 |
- |
1 |
12-116446685-T-C |
c.1533A>G |
p.A511= |
Synonymous |
10/31 |
- |
1 |
12-116446685-T-G |
c.1533A>C |
p.A511= |
Synonymous |
10/31 |
- |
1 |
12-116446691-C-A |
c.1527G>T |
p.G509= |
Synonymous |
10/31 |
- |
1 |
12-116446691-C-G |
c.1527G>C |
p.G509= |
Synonymous |
10/31 |
- |
1 |
12-116446691-C-T |
c.1527G>A |
p.G509= |
Synonymous |
10/31 |
- |
1 |
12-116446693-C-T |
c.1525G>A |
p.G509R |
Missense |
10/31 |
- |
1 |
12-116446704-C-T |
c.1514G>A |
p.G505E |
Missense |
10/31 |
- |
1 |
12-116446706-T-A |
c.1512A>T |
p.P504= |
Synonymous |
10/31 |
- |
1 |
12-116446706-T-C |
c.1512A>G |
p.P504= |
Synonymous |
10/31 |
- |
1 |
12-116446706-T-G |
c.1512A>C |
p.P504= |
Synonymous |
10/31 |
- |
1 |
12-116446709-TG-GT |
c.1508_1509delinsAC |
p.T503N |
Missense |
10/31 |
- |
1 |
12-116446710-G-A |
c.1508C>T |
p.T503I |
Missense |
10/31 |
- |
1 |
12-116446710-G-C |
c.1508C>G |
p.T503R |
Missense |
10/31 |
- |
1 |
12-116446720-C-T |
c.1498G>A |
p.E500K |
Missense |
10/31 |
- |
1 |
12-116446725-C-A |
c.1493G>T |
p.C498F |
Missense |
10/31 |
- |
1 |
12-116446725-C-T |
c.1493G>A |
p.C498Y |
Missense |
10/31 |
- |
1 |
12-116446726-A-G |
c.1492T>C |
p.C498R |
Missense |
10/31 |
- |
1 |
12-116446729-A-C |
c.1489T>G |
p.L497V |
Missense |
10/31 |
- |
1 |
12-116446729-A-T |
c.1489T>A |
p.L497I |
Missense |
10/31 |
- |
1 |
12-116446730-T-G |
c.1488A>C |
p.E496D |
Missense |
10/31 |
- |
1 |
12-116446734-T-C |
c.1484A>G |
p.E495G |
Missense |
10/31 |
- |
1 |
12-116446735-C-A |
c.1483G>T |
p.E495* |
Nonsense |
10/31 |
- |
1 |
12-116446735-C-T |
c.1483G>A |
p.E495K |
Missense |
10/31 |
- |
3 |
12-116446756-G-A |
c.1462C>T |
p.H488Y |
Missense |
10/31 |
- |
1 |
12-116446763-TA-GT |
c.1454_1455delinsAC |
p.I485N |
Missense |
10/31 |
- |
1 |
12-116446764-A-G |
c.1454T>C |
p.I485T |
Missense |
10/31 |
- |
1 |
12-116446767-A-C |
c.1451T>G |
p.L484* |
Nonsense |
10/31 |
- |
1 |
12-116446767-A-T |
c.1451T>A |
p.L484* |
Nonsense |
10/31 |
- |
1 |
12-116446766-T-C |
c.1452A>G |
p.L484= |
Synonymous |
10/31 |
- |
1 |
12-116446768-A-G |
c.1450T>C |
p.L484= |
Synonymous |
10/31 |
- |
1 |
12-116446769-G-A |
c.1449C>T |
p.P483= |
Synonymous |
10/31 |
- |
1 |
12-116446769-G-C |
c.1449C>G |
p.P483= |
Synonymous |
10/31 |
- |
1 |
12-116446769-G-T |
c.1449C>A |
p.P483= |
Synonymous |
10/31 |
- |
1 |
12-116446771-G-T |
c.1447C>A |
p.P483T |
Missense |
10/31 |
- |
1 |
12-116446773-C-A |
c.1445G>T |
p.R482I |
Missense |
10/31 |
- |
1 |
12-116446774-T-C |
c.1444A>G |
p.R482G |
Missense |
10/31 |
- |
2 |
12-116446777-T-G |
c.1441A>C |
p.K481Q |
Missense |
10/31 |
- |
4 |
12-116446775-CTT-C |
c.1441_1442del |
p.K481Efs*9 |
Frameshift |
10/31 |
- |
3 |
12-116446782-A-T |
c.1436T>A |
p.L479Q |
Missense |
10/31 |
- |
1 |
12-116446785-T-C |
c.1433A>G |
p.K478R |
Missense |
10/31 |
- |
1 |
12-116446786-T-C |
c.1432A>G |
p.K478E |
Missense |
10/31 |
- |
1 |
12-116446799-C-A |
c.1419G>T |
p.Q473H |
Missense |
10/31 |
- |
1 |
12-116446798-CCTGT-C |
c.1416_1419del |
p.Q473Kfs*11 |
Frameshift |
10/31 |
- |
2 |
12-116446802-T-G |
c.1416A>C |
p.R472S |
Missense |
10/31 |
- |
1 |
12-116446812-G-A |
c.1406C>T |
p.T469I |
Missense |
10/31 |
- |
1 |
12-116446812-G-T |
c.1406C>A |
p.T469K |
Missense |
10/31 |
- |
1 |
12-116446820-C-T |
c.1398G>A |
p.K466= |
Synonymous |
10/31 |
- |
2 |
12-116446824-AG-A |
c.1394del |
p.S465Lfs*20 |
Frameshift |
10/31 |
- |
1 |
12-116446830-G-A |
c.1388C>T |
p.A463V |
Missense |
10/31 |
- |
1 |
12-116446833-G-A |
c.1385C>T |
p.P462L |
Missense |
10/31 |
- |
1 |
12-116446834-G-T |
c.1384C>A |
p.P462T |
Missense |
10/31 |
- |
1 |
12-116446841-T-A |
c.1377A>T |
p.L459F |
Missense |
10/31 |
- |
1 |
12-116446845-G-C |
c.1373C>G |
p.S458C |
Missense |
10/31 |
- |
1 |
12-116446847-T-A |
c.1371A>T |
p.S457= |
Synonymous |
10/31 |
- |
2 |
12-116446847-T-C |
c.1371A>G |
p.S457= |
Synonymous |
10/31 |
- |
4 |
12-116446847-T-G |
c.1371A>C |
p.S457= |
Synonymous |
10/31 |
- |
2 |
12-116446848-G-A |
c.1370C>T |
p.S457L |
Missense |
10/31 |
- |
3 |
12-116446850-AG-CC |
c.1367_1368delinsGG |
p.S456W |
Missense |
10/31 |
- |
1 |
12-116446851-GA-AG |
c.1366_1367delinsCT |
p.S456L |
Missense |
10/31 |
- |
1 |
12-116446851-G-C |
c.1367C>G |
p.S456C |
Missense |
10/31 |
- |
1 |
12-116446855-A-C |
c.1363T>G |
p.S455A |
Missense |
10/31 |
- |
1 |
12-116446856-TG-AA |
c.1361_1362delinsTT |
p.S454F |
Missense |
10/31 |
- |
1 |
12-116446857-G-C |
c.1361C>G |
p.S454* |
Nonsense |
10/31 |
- |
1 |
12-116446858-A-T |
c.1360T>A |
p.S454T |
Missense |
10/31 |
- |
1 |
12-116446861-G-A |
c.1357C>T |
p.P453S |
Missense |
10/31 |
- |
2 |
12-116446863-C-G |
c.1355G>C |
p.G452A |
Missense |
10/31 |
- |
1 |
12-116446871-G-A |
c.1347C>T |
p.F449= |
Synonymous |
10/31 |
- |
1 |
12-116446872-A-C |
c.1346T>G |
p.F449C |
Missense |
10/31 |
- |
1 |
12-116446879-G-A |
c.1339C>T |
p.P447S |
Missense |
10/31 |
- |
2 |
12-116446882-G-C |
c.1336C>G |
p.Q446E |
Missense |
10/31 |
- |
1 |
12-116446888-C-T |
c.1330G>A |
p.V444I |
Missense |
10/31 |
- |
1 |
12-116446889-T-C |
c.1329A>G |
p.T443= |
Synonymous |
10/31 |
- |
1 |
12-116446890-G-A |
c.1328C>T |
p.T443I |
Missense |
10/31 |
- |
1 |
12-116446893-G-A |
c.1325C>T |
p.P442L |
Missense |
10/31 |
- |
2 |
12-116446894-G-T |
c.1324C>A |
p.P442T |
Missense |
10/31 |
- |
1 |
12-116446897-G-A |
c.1321C>T |
p.P441S |
Missense |
10/31 |
- |
1 |
12-116446898-TCG-ACA |
c.1318_1320delinsTGT |
p.R440C |
Missense |
10/31 |
- |
1 |
12-116446899-C-T |
c.1319G>A |
p.R440Q |
Missense |
10/31 |
- |
2 |
12-116446900-G-A |
c.1318C>T |
p.R440* |
Nonsense |
10/31 |
- |
2 |
12-116446902-T-C |
c.1316A>G |
p.N439S |
Missense |
10/31 |
- |
2 |
12-116446909-C-G |
c.1309G>C |
p.G437R |
Missense |
10/31 |
- |
1 |
12-116446909-C-T |
c.1309G>A |
p.G437R |
Missense |
10/31 |
- |
2 |
12-116446910-G-A |
c.1308C>T |
p.V436= |
Synonymous |
10/31 |
- |
1 |
12-116446911-A-G |
c.1307T>C |
p.V436A |
Missense |
10/31 |
- |
1 |
12-116446912-C-T |
c.1306G>A |
p.V436I |
Missense |
10/31 |
- |
1 |
12-116446913-T-A |
c.1305A>T |
p.A435= |
Synonymous |
10/31 |
- |
1 |
12-116446913-T-C |
c.1305A>G |
p.A435= |
Synonymous |
10/31 |
- |
1 |
12-116446913-T-G |
c.1305A>C |
p.A435= |
Synonymous |
10/31 |
- |
1 |
12-116446919-ACG-TCA |
c.1297_1299delinsTGA |
p.R433* |
Nonsense |
10/31 |
- |
1 |
12-116446921-G-A |
c.1297C>T |
p.R433C |
Missense |
10/31 |
- |
6 |
12-116446925-TAA-CAT |
c.1291_1293delinsATG |
p.L431M |
Missense |
10/31 |
- |
1 |
12-116446930-G-A |
c.1288C>T |
p.L430F |
Missense |
10/31 |
- |
1 |
12-116446933-T-TAAAAGCTTAAA |
c.1284_1285insTTTAAGCTTTT |
p.K429Ffs*7 |
Frameshift |
10/31 |
- |
1 |
12-116446935-T-C |
c.1283A>G |
p.H428R |
Missense |
10/31 |
- |
2 |
12-116448899-T-C |
c.1280+1703A>G |
- |
IntronicSNV |
- |
9/30 |
1 |
12-116450006-T-A |
c.1280+596A>T |
- |
IntronicSNV |
- |
9/30 |
1 |
12-116450006-T-C |
c.1280+596A>G |
- |
IntronicSNV |
- |
9/30 |
1 |
12-116450464-A-G |
c.1280+138T>C |
- |
IntronicSNV |
- |
9/30 |
1 |
12-116450601-C-A |
c.1280+1G>T |
- |
IntronicSNV |
- |
9/30 |
1 |
12-116450608-C-A |
c.1274G>T |
p.C425F |
Missense |
9/31 |
- |
1 |
12-116450611-G-C |
c.1271C>G |
p.S424C |
Missense |
9/31 |
- |
1 |
12-116450614-CA-GT |
c.1267_1268delinsAC |
p.C423T |
Missense |
9/31 |
- |
1 |
12-116450627-G-T |
c.1255C>A |
p.Q419K |
Missense |
9/31 |
- |
1 |
12-116450628-GG-CA |
c.1253_1254delinsTG |
p.T418M |
Missense |
9/31 |
- |
1 |
12-116450629-G-T |
c.1253C>A |
p.T418N |
Missense |
9/31 |
- |
1 |
12-116450631-T-G |
c.1251A>C |
p.P417= |
Synonymous |
9/31 |
- |
1 |
12-116450632-G-A |
c.1250C>T |
p.P417L |
Missense |
9/31 |
- |
1 |
12-116450633-G-A |
c.1249C>T |
p.P417S |
Missense |
9/31 |
- |
3 |
12-116450636-C-T |
c.1246G>A |
p.D416N |
Missense |
9/31 |
- |
1 |
12-116450638-A-T |
c.1244T>A |
p.V415E |
Missense |
9/31 |
- |
1 |
12-116450644-AT-A |
c.1238del |
p.D413Vfs*19 |
Frameshift |
9/31 |
- |
3 |
12-116450645-C-A |
c.1237G>T |
p.D413Y |
Missense |
9/31 |
- |
1 |
12-116450645-C-G |
c.1237G>C |
p.D413H |
Missense |
9/31 |
- |
1 |
12-116450656-G-A |
c.1226C>T |
p.P409L |
Missense |
9/31 |
- |
1 |
12-116450666-C-T |
c.1216G>A |
p.A406T |
Missense |
9/31 |
- |
1 |
12-116450669-G-A |
c.1213C>T |
p.P405S |
Missense |
9/31 |
- |
3 |
12-116450669-G-GGT |
c.1212_1213insAC |
p.P405Tfs*28 |
Frameshift |
9/31 |
- |
1 |
12-116450672-C-G |
c.1210G>C |
p.E404Q |
Missense |
9/31 |
- |
2 |
12-116450672-C-T |
c.1210G>A |
p.E404K |
Missense |
9/31 |
- |
1 |
12-116450676-T-C |
c.1206A>G |
p.E402= |
Synonymous |
9/31 |
- |
1 |
12-116450678-C-G |
c.1204G>C |
p.E402Q |
Missense |
9/31 |
- |
1 |
12-116450679-A-C |
c.1203T>G |
p.L401= |
Synonymous |
9/31 |
- |
1 |
12-116450679-A-G |
c.1203T>C |
p.L401= |
Synonymous |
9/31 |
- |
1 |
12-116450679-A-T |
c.1203T>A |
p.L401= |
Synonymous |
9/31 |
- |
1 |
12-116450682-A-C |
c.1200T>G |
p.T400= |
Synonymous |
9/31 |
- |
1 |
12-116450682-A-G |
c.1200T>C |
p.T400= |
Synonymous |
9/31 |
- |
1 |
12-116450682-A-T |
c.1200T>A |
p.T400= |
Synonymous |
9/31 |
- |
1 |
12-116450684-T-C |
c.1198A>G |
p.T400A |
Missense |
9/31 |
- |
1 |
12-116450687-G-A |
c.1195C>T |
p.P399S |
Missense |
9/31 |
- |
1 |
12-116450688-A-C |
c.1194T>G |
p.T398= |
Synonymous |
9/31 |
- |
1 |
12-116450688-A-G |
c.1194T>C |
p.T398= |
Synonymous |
9/31 |
- |
1 |
12-116450688-AG-CT |
c.1193_1194inv |
p.T398K |
Missense |
9/31 |
- |
1 |
12-116450688-A-T |
c.1194T>A |
p.T398= |
Synonymous |
9/31 |
- |
1 |
12-116450690-T-G |
c.1192A>C |
p.T398P |
Missense |
9/31 |
- |
1 |
12-116450695-A-G |
c.1187T>C |
p.M396T |
Missense |
9/31 |
- |
1 |
12-116450697-T-A |
c.1185A>T |
p.Q395H |
Missense |
9/31 |
- |
1 |
12-116450695-AT-A |
c.1186del |
p.M396Cfs*36 |
Frameshift |
9/31 |
- |
3 |
12-116450918-T-C |
c.1176-212A>G |
- |
IntronicSNV |
- |
8/30 |
1 |
12-116450918-T-G |
c.1176-212A>C |
- |
IntronicSNV |
- |
8/30 |
1 |
12-116452914-T-C |
c.1175A>G |
p.K392R |
Missense |
8/31 |
- |
1 |
12-116452921-G-A |
c.1168C>T |
p.Q390* |
Nonsense |
8/31 |
- |
2 |
12-116452921-G-T |
c.1168C>A |
p.Q390K |
Missense |
8/31 |
- |
1 |
12-116452922-G-A |
c.1167C>T |
p.T389= |
Synonymous |
8/31 |
- |
1 |
12-116452922-G-C |
c.1167C>G |
p.T389= |
Synonymous |
8/31 |
- |
1 |
12-116452922-G-T |
c.1167C>A |
p.T389= |
Synonymous |
8/31 |
- |
1 |
12-116452926-C-A |
c.1163G>T |
p.R388I |
Missense |
8/31 |
- |
1 |
12-116452927-T-A |
c.1162A>T |
p.R388* |
Nonsense |
8/31 |
- |
3 |
12-116452929-T-C |
c.1160A>G |
p.N387S |
Missense |
8/31 |
- |
1 |
12-116452931-G-A |
c.1158C>T |
p.L386= |
Synonymous |
8/31 |
- |
1 |
12-116452935-A-T |
c.1154T>A |
p.I385N |
Missense |
8/31 |
- |
1 |
12-116452938-C-T |
c.1151G>A |
p.C384Y |
Missense |
8/31 |
- |
1 |
12-116452942-C-T |
c.1147G>A |
p.E383K |
Missense |
8/31 |
- |
1 |
12-116452946-C-A |
c.1143G>T |
p.W381C |
Missense |
8/31 |
- |
2 |
12-116452946-C-G |
c.1143G>C |
p.W381C |
Missense |
8/31 |
- |
1 |
12-116452947-C-G |
c.1142G>C |
p.W381S |
Missense |
8/31 |
- |
2 |
12-116452950-A-G |
c.1139T>C |
p.V380A |
Missense |
8/31 |
- |
1 |
12-116452952-TCG-ACA |
c.1135_1137delinsTGT |
p.R379C |
Missense |
8/31 |
- |
1 |
12-116452953-C-T |
c.1136G>A |
p.R379Q |
Missense |
8/31 |
- |
2 |
12-116452954-G-A |
c.1135C>T |
p.R379* |
Nonsense |
8/31 |
- |
5 |
12-116452960-C-T |
c.1129G>A |
p.V377I |
Missense |
8/31 |
- |
3 |
12-116452961-C-T |
c.1128G>A |
p.M376I |
Missense |
8/31 |
- |
1 |
12-116452962-A-AT |
c.1126dup |
p.M376Nfs*27 |
Frameshift |
8/31 |
- |
1 |
12-116452965-T-C |
c.1124A>G |
p.H375R |
Missense |
8/31 |
- |
3 |
12-116452968-T-C |
c.1121A>G |
p.N374S |
Missense |
8/31 |
- |
1 |
12-116452971-T-C |
c.1118A>G |
p.H373R |
Missense |
8/31 |
- |
1 |
12-116452972-G-A |
c.1117C>T |
p.H373Y |
Missense |
8/31 |
- |
3 |
12-116452973-G-A |
c.1116C>T |
p.L372= |
Synonymous |
8/31 |
- |
1 |
12-116452973-G-C |
c.1116C>G |
p.L372= |
Synonymous |
8/31 |
- |
1 |
12-116452973-G-T |
c.1116C>A |
p.L372= |
Synonymous |
8/31 |
- |
1 |
12-116452976-T-C |
c.1113A>G |
p.K371= |
Synonymous |
8/31 |
- |
1 |
12-116452980-G-A |
c.1109C>T |
p.P370L |
Missense |
8/31 |
- |
4 |
12-116452981-G-C |
c.1108C>G |
p.P370A |
Missense |
8/31 |
- |
1 |
12-116452987-T-G |
c.1102A>C |
p.I368L |
Missense |
8/31 |
- |
1 |
12-116452992-C-T |
c.1097G>A |
p.G366E |
Missense |
8/31 |
- |
1 |
12-116452995-G-A |
c.1094C>T |
p.S365L |
Missense |
8/31 |
- |
1 |
12-116452997-T-C |
c.1092A>G |
p.R364= |
Synonymous |
8/31 |
- |
1 |
12-116452997-TCT-ACA |
c.1090_1092delinsTGT |
p.R364C |
Missense |
8/31 |
- |
1 |
12-116452997-TCT-ATG |
c.1090_1092delinsCAT |
p.R364H |
Missense |
8/31 |
- |
1 |
12-116452999-T-G |
c.1090A>C |
p.R364= |
Synonymous |
8/31 |
- |
1 |
12-116452998-C-T |
c.1091G>A |
p.R364K |
Missense |
8/31 |
- |
2 |
12-116452995-GATCTCTTTGGACTGTGC-G |
c.1077_1093del |
p.M359Ifs*38 |
Frameshift |
8/31 |
- |
1 |
12-116453003-T-A |
c.1086A>T |
p.P362= |
Synonymous |
8/31 |
- |
1 |
12-116453003-T-C |
c.1086A>G |
p.P362= |
Synonymous |
8/31 |
- |
1 |
12-116453003-T-G |
c.1086A>C |
p.P362= |
Synonymous |
8/31 |
- |
1 |
12-116453007-C-T |
c.1082G>A |
p.S361N |
Missense |
8/31 |
- |
1 |
12-116453012-C-T |
c.1077G>A |
p.M359I |
Missense |
8/31 |
- |
1 |
12-116453013-A-G |
c.1076T>C |
p.M359T |
Missense |
8/31 |
- |
1 |
12-116453013-A-T |
c.1076T>A |
p.M359K |
Missense |
8/31 |
- |
1 |
12-116453015-C-A |
c.1074G>T |
p.T358= |
Synonymous |
8/31 |
- |
3 |
12-116453015-C-G |
c.1074G>C |
p.T358= |
Synonymous |
8/31 |
- |
3 |
12-116453015-CG-GA |
c.1073_1074delinsTC |
p.T358I |
Missense |
8/31 |
- |
1 |
12-116453015-C-T |
c.1074G>A |
p.T358= |
Synonymous |
8/31 |
- |
3 |
12-116453016-G-A |
c.1073C>T |
p.T358M |
Missense |
8/31 |
- |
1 |
12-116453020-T-C |
c.1069A>G |
p.I357V |
Missense |
8/31 |
- |
1 |
12-116453021-C-A |
c.1068G>T |
p.M356I |
Missense |
8/31 |
- |
3 |
12-116453021-C-G |
c.1068G>C |
p.M356I |
Missense |
8/31 |
- |
3 |
12-116453021-C-T |
c.1068G>A |
p.M356I |
Missense |
8/31 |
- |
2 |
12-116453022-A-C |
c.1067T>G |
p.M356R |
Missense |
8/31 |
- |
1 |
12-116453024-C-T |
c.1065G>A |
p.G355= |
Synonymous |
8/31 |
- |
1 |
12-116453025-C-T |
c.1064G>A |
p.G355E |
Missense |
8/31 |
- |
2 |
12-116453026-C-A |
c.1063G>T |
p.G355W |
Missense |
8/31 |
- |
1 |
12-116453028-C-T |
c.1061G>A |
p.G354E |
Missense |
8/31 |
- |
1 |
12-116453030-A-G |
c.1059T>C |
p.D353= |
Synonymous |
8/31 |
- |
1 |
12-116453032-C-G |
c.1057G>C |
p.D353H |
Missense |
8/31 |
- |
1 |
12-116453035-G-A |
c.1054C>T |
p.Q352* |
Nonsense |
8/31 |
- |
1 |
12-116453037-G-A |
c.1052C>T |
p.S351F |
Missense |
8/31 |
- |
5 |
12-116453041-C-T |
c.1048G>A |
p.V350I |
Missense |
8/31 |
- |
1 |
12-116453044-G-A |
c.1045C>T |
p.L349= |
Synonymous |
8/31 |
- |
1 |
12-116453045-G-C |
c.1044C>G |
p.H348Q |
Missense |
8/31 |
- |
1 |
12-116453051-G-A |
c.1038C>T |
p.A346= |
Synonymous |
8/31 |
- |
1 |
12-116453051-G-C |
c.1038C>G |
p.A346= |
Synonymous |
8/31 |
- |
1 |
12-116453051-G-T |
c.1038C>A |
p.A346= |
Synonymous |
8/31 |
- |
1 |
12-116453057-A-G |
c.1032T>C |
p.S344= |
Synonymous |
8/31 |
- |
1 |
12-116453062-G-C |
c.1027C>G |
p.Q343E |
Missense |
8/31 |
- |
1 |
12-116453065-T-C |
c.1024A>G |
p.M342V |
Missense |
8/31 |
- |
1 |
12-116453069-TC-T |
c.1019del |
p.G340Efs*17 |
Frameshift |
8/31 |
- |
1 |
12-116453073-C-G |
c.1016G>C |
p.S339T |
Missense |
8/31 |
- |
1 |
12-116453074-T-C |
c.1015A>G |
p.S339G |
Missense |
8/31 |
- |
1 |
12-116453075-C-A |
c.1014G>T |
p.E338D |
Missense |
8/31 |
- |
1 |
12-116453077-C-A |
c.1012G>T |
p.E338* |
Nonsense |
8/31 |
- |
2 |
12-116453077-C-T |
c.1012G>A |
p.E338K |
Missense |
8/31 |
- |
1 |
12-116453079-C-A |
c.1010G>T |
p.G337V |
Missense |
8/31 |
- |
1 |
12-116453079-C-G |
c.1010G>C |
p.G337A |
Missense |
8/31 |
- |
1 |
12-116453082-G-GA |
c.1010-4dup |
- |
IntronicInsertion |
- |
7/30 |
1 |
12-116456713-A-C |
c.1009+316T>G |
- |
IntronicSNV |
- |
7/30 |
1 |
12-116456713-A-G |
c.1009+316T>C |
- |
IntronicSNV |
- |
7/30 |
1 |
12-116456857-TGAATTCTGTTTGTTTATA-T |
c.1009+154_1009+171del |
- |
IntronicDeletion |
- |
7/30 |
1 |
12-116456937-G-A |
c.1009+92C>T |
- |
IntronicSNV |
- |
7/30 |
1 |
12-116457026-C-T |
c.1009+3G>A |
- |
IntronicSNV |
- |
7/30 |
1 |
12-116457030-T-A |
c.1008A>T |
p.L336= |
Synonymous |
7/31 |
- |
1 |
12-116457030-T-C |
c.1008A>G |
p.L336= |
Synonymous |
7/31 |
- |
1 |
12-116457030-T-G |
c.1008A>C |
p.L336= |
Synonymous |
7/31 |
- |
1 |
12-116457032-G-A |
c.1006C>T |
p.L336= |
Synonymous |
7/31 |
- |
1 |
12-116457032-G-T |
c.1006C>A |
p.L336I |
Missense |
7/31 |
- |
1 |
12-116457033-G-C |
c.1005C>G |
p.I335M |
Missense |
7/31 |
- |
1 |
12-116457037-G-A |
c.1001C>T |
p.A334V |
Missense |
7/31 |
- |
1 |
12-116457043-T-C |
c.995A>G |
p.E332G |
Missense |
7/31 |
- |
1 |
12-116457046-G-A |
c.992C>T |
p.P331L |
Missense |
7/31 |
- |
1 |
12-116457047-G-A |
c.991C>T |
p.P331S |
Missense |
7/31 |
- |
1 |
12-116457049-GA-CG |
c.988_989delinsCG |
p.S330R |
Missense |
7/31 |
- |
1 |
12-116457051-G-A |
c.987C>T |
p.T329= |
Synonymous |
7/31 |
- |
2 |
12-116457051-G-C |
c.987C>G |
p.T329= |
Synonymous |
7/31 |
- |
2 |
12-116457051-G-T |
c.987C>A |
p.T329= |
Synonymous |
7/31 |
- |
2 |
12-116457057-AG-TT |
c.980_981delinsAA |
p.P327Q |
Missense |
7/31 |
- |
1 |
12-116457066-A-G |
c.972T>C |
p.P324= |
Synonymous |
7/31 |
- |
1 |
12-116457069-C-T |
c.969G>A |
p.M323I |
Missense |
7/31 |
- |
3 |
12-116457075-A-T |
c.963T>A |
p.C321* |
Nonsense |
7/31 |
- |
1 |
12-116457076-C-T |
c.962G>A |
p.C321Y |
Missense |
7/31 |
- |
2 |
12-116457076-C-G |
c.962G>C |
p.C321S |
Missense |
7/31 |
- |
1 |
12-116457086-G-A |
c.952C>T |
p.P318S |
Missense |
7/31 |
- |
5 |
12-116457090-C-T |
c.948G>A |
p.K316= |
Synonymous |
7/31 |
- |
2 |
12-116457094-A-C |
c.944T>G |
p.V315G |
Missense |
7/31 |
- |
1 |
12-116457094-CACA-C |
c.942_944del |
p.S314_V315delinsR |
MultiAAMissense |
7/31 |
- |
1 |
12-116457095-C-A |
c.943G>T |
p.V315L |
Missense |
7/31 |
- |
1 |
12-116457100-C-T |
c.938G>A |
p.G313D |
Missense |
7/31 |
- |
1 |
12-116457099-A-AC |
c.938dup |
p.S314* |
Nonsense |
7/31 |
- |
1 |
12-116457101-C-T |
c.937G>A |
p.G313S |
Missense |
7/31 |
- |
1 |
12-116457107-C-T |
c.931G>A |
p.G311R |
Missense |
7/31 |
- |
1 |
12-116457115-C-G |
c.923G>C |
p.G308A |
Missense |
7/31 |
- |
1 |
12-116457117-A-G |
c.921T>C |
p.V307= |
Synonymous |
7/31 |
- |
1 |
12-116457121-G-A |
c.917C>T |
p.A306V |
Missense |
7/31 |
- |
1 |
12-116457129-G-A |
c.909C>T |
p.G303= |
Synonymous |
7/31 |
- |
1 |
12-116457129-G-C |
c.909C>G |
p.G303= |
Synonymous |
7/31 |
- |
1 |
12-116457129-G-T |
c.909C>A |
p.G303= |
Synonymous |
7/31 |
- |
1 |
12-116457130-C-A |
c.908G>T |
p.G303V |
Missense |
7/31 |
- |
1 |
12-116457130-C-T |
c.908G>A |
p.G303D |
Missense |
7/31 |
- |
1 |
12-116457132-TCC-GCT |
c.904_906delinsAGC |
p.G302S |
Missense |
7/31 |
- |
1 |
12-116457135-A-AG |
c.902dup |
p.G302Wfs*13 |
Frameshift |
7/31 |
- |
1 |
12-116457137-C-T |
c.901G>A |
p.A301T |
Missense |
7/31 |
- |
1 |
12-116457149-T-A |
c.889A>T |
p.S297C |
Missense |
7/31 |
- |
2 |
12-116457150-C-A |
c.888G>T |
p.Q296H |
Missense |
7/31 |
- |
1 |
12-116457150-C-G |
c.888G>C |
p.Q296H |
Missense |
7/31 |
- |
2 |
12-116457155-G-A |
c.883C>T |
p.P295S |
Missense |
7/31 |
- |
5 |
12-116457156-A-C |
c.882T>G |
p.V294= |
Synonymous |
7/31 |
- |
1 |
12-116457156-A-G |
c.882T>C |
p.V294= |
Synonymous |
7/31 |
- |
1 |
12-116457156-A-T |
c.882T>A |
p.V294= |
Synonymous |
7/31 |
- |
1 |
12-116457158-C-T |
c.880G>A |
p.V294I |
Missense |
7/31 |
- |
1 |
12-116457160-G-A |
c.878C>T |
p.P293L |
Missense |
7/31 |
- |
2 |
12-116457169-T-C |
c.869A>G |
p.N290S |
Missense |
7/31 |
- |
1 |
12-116457171-C-G |
c.867G>C |
p.Q289H |
Missense |
7/31 |
- |
1 |
12-116457174-A-C |
c.864T>G |
p.S288= |
Synonymous |
7/31 |
- |
2 |
12-116457174-A-G |
c.864T>C |
p.S288= |
Synonymous |
7/31 |
- |
2 |
12-116457174-A-T |
c.864T>A |
p.S288= |
Synonymous |
7/31 |
- |
2 |
12-116457181-A-G |
c.857T>C |
p.L286S |
Missense |
7/31 |
- |
1 |
12-116457187-A-G |
c.851T>C |
p.F284S |
Missense |
7/31 |
- |
1 |
12-116457188-A-T |
c.850T>A |
p.F284I |
Missense |
7/31 |
- |
1 |
12-116457189-T-A |
c.849A>T |
p.A283= |
Synonymous |
7/31 |
- |
1 |
12-116457189-T-C |
c.849A>G |
p.A283= |
Synonymous |
7/31 |
- |
1 |
12-116457189-T-G |
c.849A>C |
p.A283= |
Synonymous |
7/31 |
- |
1 |
12-116457190-G-T |
c.848C>A |
p.A283E |
Missense |
7/31 |
- |
1 |
12-116457196-G-A |
c.842C>T |
p.P281L |
Missense |
7/31 |
- |
1 |
12-116457198-G-A |
c.840C>T |
p.Y280= |
Synonymous |
7/31 |
- |
1 |
12-116457205-A-C |
c.833T>G |
p.M278R |
Missense |
7/31 |
- |
3 |
12-116457205-A-G |
c.833T>C |
p.M278T |
Missense |
7/31 |
- |
1 |
12-116457206-T-A |
c.832A>T |
p.M278L |
Missense |
7/31 |
- |
1 |
12-116457208-CG-TA |
c.829_830delinsTA |
p.R277* |
Nonsense |
7/31 |
- |
1 |
12-116457208-C-T |
c.830G>A |
p.R277Q |
Missense |
7/31 |
- |
3 |
12-116457207-C-A |
c.831G>T |
p.R277= |
Synonymous |
7/31 |
- |
1 |
12-116457207-C-G |
c.831G>C |
p.R277= |
Synonymous |
7/31 |
- |
1 |
12-116457207-C-T |
c.831G>A |
p.R277= |
Synonymous |
7/31 |
- |
1 |
12-116457209-G-A |
c.829C>T |
p.R277W |
Missense |
7/31 |
- |
6 |
12-116457209-G-T |
c.829C>A |
p.R277= |
Synonymous |
7/31 |
- |
1 |
12-116457586-C-T |
c.817G>A |
p.V273I |
Missense |
6/31 |
- |
1 |
12-116457594-T-C |
c.809A>G |
p.E270G |
Missense |
6/31 |
- |
1 |
12-116457595-C-G |
c.808G>C |
p.E270Q |
Missense |
6/31 |
- |
1 |
12-116457595-C-T |
c.808G>A |
p.E270K |
Missense |
6/31 |
- |
1 |
12-116457597-A-G |
c.806T>C |
p.V269A |
Missense |
6/31 |
- |
1 |
12-116457598-C-T |
c.805G>A |
p.V269I |
Missense |
6/31 |
- |
1 |
12-116457599-T-A |
c.804A>T |
p.A268= |
Synonymous |
6/31 |
- |
1 |
12-116457601-C-T |
c.802G>A |
p.A268T |
Missense |
6/31 |
- |
1 |
12-116457604-C-A |
c.799G>T |
p.V267L |
Missense |
6/31 |
- |
1 |
12-116457604-C-G |
c.799G>C |
p.V267L |
Missense |
6/31 |
- |
1 |
12-116457604-C-T |
c.799G>A |
p.V267M |
Missense |
6/31 |
- |
1 |
12-116457605-A-C |
c.798T>G |
p.P266= |
Synonymous |
6/31 |
- |
1 |
12-116457605-A-G |
c.798T>C |
p.P266= |
Synonymous |
6/31 |
- |
1 |
12-116457605-A-T |
c.798T>A |
p.P266= |
Synonymous |
6/31 |
- |
1 |
12-116457607-G-A |
c.796C>T |
p.P266S |
Missense |
6/31 |
- |
3 |
12-116457613-C-G |
c.790G>C |
p.D264H |
Missense |
6/31 |
- |
1 |
12-116457615-T-C |
c.788A>G |
p.D263G |
Missense |
6/31 |
- |
1 |
12-116457616-C-A |
c.787G>T |
p.D263Y |
Missense |
6/31 |
- |
1 |
12-116457616-C-G |
c.787G>C |
p.D263H |
Missense |
6/31 |
- |
1 |
12-116457616-C-T |
c.787G>A |
p.D263N |
Missense |
6/31 |
- |
2 |
12-116457618-T-C |
c.785A>G |
p.D262G |
Missense |
6/31 |
- |
1 |
12-116457621-T-C |
c.782A>G |
p.Y261C |
Missense |
6/31 |
- |
2 |
12-116457622-TA-T |
c.781del |
p.Y261Mfs*11 |
Frameshift |
6/31 |
- |
1 |
12-116457624-C-T |
c.779G>A |
p.G260E |
Missense |
6/31 |
- |
1 |
12-116457629-C-A |
c.774G>T |
p.E258D |
Missense |
6/31 |
- |
1 |
12-116457631-C-T |
c.772G>A |
p.E258K |
Missense |
6/31 |
- |
2 |
12-116457632-G-A |
c.771C>T |
p.D257= |
Synonymous |
6/31 |
- |
3 |
12-116457633-T-C |
c.770A>G |
p.D257G |
Missense |
6/31 |
- |
1 |
12-116457640-C-G |
c.763G>C |
p.E255Q |
Missense |
6/31 |
- |
1 |
12-116457640-C-T |
c.763G>A |
p.E255K |
Missense |
6/31 |
- |
1 |
12-116457643-T-C |
c.760A>G |
p.K254E |
Missense |
6/31 |
- |
1 |
12-116457644-C-A |
c.759G>T |
p.S253= |
Synonymous |
6/31 |
- |
1 |
12-116457644-C-G |
c.759G>C |
p.S253= |
Synonymous |
6/31 |
- |
1 |
12-116457644-C-T |
c.759G>A |
p.S253= |
Synonymous |
6/31 |
- |
2 |
12-116457645-G-A |
c.758C>T |
p.S253L |
Missense |
6/31 |
- |
1 |
12-116457648-TC-AT |
c.754_755delinsAT |
p.E252I |
Missense |
6/31 |
- |
1 |
12-116457649-C-T |
c.754G>A |
p.E252K |
Missense |
6/31 |
- |
1 |
12-116457651-T-C |
c.752A>G |
p.E251G |
Missense |
6/31 |
- |
10 |
12-116457651-T-G |
c.752A>C |
p.E251A |
Missense |
6/31 |
- |
1 |
12-116457652-C-CA |
c.750_751insT |
p.E251* |
Nonsense |
6/31 |
- |
2 |
12-116457652-C-T |
c.751G>A |
p.E251K |
Missense |
6/31 |
- |
1 |
12-116457649-CTTCT-C |
c.750_753del |
p.E251Nfs*20 |
Frameshift |
6/31 |
- |
1 |
12-116457658-T-G |
c.745A>C |
p.K249Q |
Missense |
6/31 |
- |
1 |
12-116457656-CT-C |
c.746del |
p.K249Rfs*23 |
Frameshift |
6/31 |
- |
1 |
12-116457663-A-G |
c.740T>C |
p.L247P |
Missense |
6/31 |
- |
1 |
12-116457669-A-G |
c.734T>C |
p.M245T |
Missense |
6/31 |
- |
1 |
12-116457671-C-A |
c.732G>T |
p.P244= |
Synonymous |
6/31 |
- |
1 |
12-116457671-C-G |
c.732G>C |
p.P244= |
Synonymous |
6/31 |
- |
1 |
12-116457671-C-T |
c.732G>A |
p.P244= |
Synonymous |
6/31 |
- |
2 |
12-116457672-G-A |
c.731C>T |
p.P244L |
Missense |
6/31 |
- |
1 |
12-116457674-G-A |
c.729C>T |
p.Y243= |
Synonymous |
6/31 |
- |
1 |
12-116457681-T-C |
c.722A>G |
p.Y241C |
Missense |
6/31 |
- |
1 |
12-116457687-C-A |
c.716G>T |
p.W239L |
Missense |
6/31 |
- |
1 |
12-116457692-C-A |
c.711G>T |
p.E237D |
Missense |
6/31 |
- |
1 |
12-116457694-C-T |
c.709G>A |
p.E237K |
Missense |
6/31 |
- |
1 |
12-116457702-T-G |
c.701A>C |
p.K234T |
Missense |
6/31 |
- |
1 |
12-116457705-C-T |
c.698G>A |
p.R233H |
Missense |
6/31 |
- |
2 |
12-116457706-G-A |
c.697C>T |
p.R233C |
Missense |
6/31 |
- |
5 |
12-116457706-G-T |
c.697C>A |
p.R233S |
Missense |
6/31 |
- |
6 |
12-116457708-G-A |
c.695C>T |
p.T232I |
Missense |
6/31 |
- |
1 |
12-116457711-G-A |
c.692C>T |
p.A231V |
Missense |
6/31 |
- |
1 |
12-116457715-GG-TT |
c.687_688delinsAA |
p.D229_P230delinsET |
Missense |
6/31 |
- |
1 |
12-116457716-G-C |
c.687C>G |
p.D229E |
Missense |
6/31 |
- |
1 |
12-116457718-C-G |
c.685G>C |
p.D229H |
Missense |
6/31 |
- |
1 |
12-116457724-T-A |
c.679A>T |
p.M227L |
Missense |
6/31 |
- |
1 |
12-116457724-T-G |
c.679A>C |
p.M227L |
Missense |
6/31 |
- |
1 |
12-116457733-C-A |
c.670G>T |
p.A224S |
Missense |
6/31 |
- |
1 |
12-116457733-C-T |
c.670G>A |
p.A224T |
Missense |
6/31 |
- |
2 |
12-116457744-A-G |
c.659T>C |
p.L220P |
Missense |
6/31 |
- |
1 |
12-116457745-G-T |
c.658C>A |
p.L220I |
Missense |
6/31 |
- |
1 |
12-116457746-C-A |
c.657G>T |
p.T219= |
Synonymous |
6/31 |
- |
1 |
12-116457746-C-G |
c.657G>C |
p.T219= |
Synonymous |
6/31 |
- |
1 |
12-116457746-C-T |
c.657G>A |
p.T219= |
Synonymous |
6/31 |
- |
1 |
12-116457747-G-A |
c.656C>T |
p.T219M |
Missense |
6/31 |
- |
5 |
12-116457752-A-G |
c.651T>C |
p.N217= |
Synonymous |
6/31 |
- |
1 |
12-116457753-T-A |
c.650A>T |
p.N217I |
Missense |
6/31 |
- |
1 |
12-116457755-T-C |
c.648A>G |
p.L216= |
Synonymous |
6/31 |
- |
1 |
12-116457757-A-G |
c.646T>C |
p.L216= |
Synonymous |
6/31 |
- |
1 |
12-116457759-C-T |
c.644G>A |
p.G215D |
Missense |
6/31 |
- |
1 |
12-116457765-G-A |
c.638C>T |
p.P213L |
Missense |
6/31 |
- |
1 |
12-116457765-G-T |
c.638C>A |
p.P213H |
Missense |
6/31 |
- |
1 |
12-116457767-A-G |
c.636T>C |
p.S212= |
Synonymous |
6/31 |
- |
1 |
12-116457768-C-A |
c.635G>T |
p.S212I |
Missense |
6/31 |
- |
1 |
12-116457773-C-A |
c.630G>T |
p.L210= |
Synonymous |
6/31 |
- |
1 |
12-116457773-C-G |
c.630G>C |
p.L210= |
Synonymous |
6/31 |
- |
1 |
12-116457773-C-T |
c.630G>A |
p.L210= |
Synonymous |
6/31 |
- |
1 |
12-116457775-G-A |
c.628C>T |
p.L210= |
Synonymous |
6/31 |
- |
1 |
12-116457804-T-A |
c.626-27A>T |
- |
IntronicSNV |
- |
5/30 |
2 |
12-116457804-T-C |
c.626-27A>G |
- |
IntronicSNV |
- |
5/30 |
2 |
12-116457804-T-G |
c.626-27A>C |
- |
IntronicSNV |
- |
5/30 |
2 |
12-116460201-G-A |
c.625+60C>T |
- |
IntronicSNV |
- |
5/30 |
1 |
12-116460261-C-T |
c.625G>A |
p.V209I |
Missense |
5/31 |
- |
6 |
12-116460264-G-C |
c.622C>G |
p.Q208E |
Missense |
5/31 |
- |
1 |
12-116460273-C-CG |
c.612_613insC |
p.A205Rfs*30 |
Frameshift |
5/31 |
- |
1 |
12-116460273-C-T |
c.613G>A |
p.A205T |
Missense |
5/31 |
- |
1 |
12-116460275-G-T |
c.611C>A |
p.P204H |
Missense |
5/31 |
- |
2 |
12-116460276-G-A |
c.610C>T |
p.P204S |
Missense |
5/31 |
- |
1 |
12-116460278-G-A |
c.608C>T |
p.S203L |
Missense |
5/31 |
- |
3 |
12-116460279-A-C |
c.607T>G |
p.S203A |
Missense |
5/31 |
- |
1 |
12-116460279-A-G |
c.607T>C |
p.S203P |
Missense |
5/31 |
- |
1 |
12-116460278-G-GA |
c.607dup |
p.S203Ffs*32 |
Frameshift |
5/31 |
- |
2 |
12-116460283-C-A |
c.603G>T |
p.Q201H |
Missense |
5/31 |
- |
1 |
12-116460283-C-G |
c.603G>C |
p.Q201H |
Missense |
5/31 |
- |
1 |
12-116460285-G-A |
c.601C>T |
p.Q201* |
Nonsense |
5/31 |
- |
1 |
12-116460289-C-A |
c.597G>T |
p.M199I |
Missense |
5/31 |
- |
1 |
12-116460289-C-G |
c.597G>C |
p.M199I |
Missense |
5/31 |
- |
2 |
12-116460289-C-T |
c.597G>A |
p.M199I |
Missense |
5/31 |
- |
1 |
12-116460291-T-C |
c.595A>G |
p.M199V |
Missense |
5/31 |
- |
1 |
12-116460294-G-A |
c.592C>T |
p.H198Y |
Missense |
5/31 |
- |
1 |
12-116460295-T-C |
c.591A>G |
p.I197M |
Missense |
5/31 |
- |
3 |
12-116460298-A-C |
c.588T>G |
p.H196Q |
Missense |
5/31 |
- |
1 |
12-116460300-G-A |
c.586C>T |
p.H196Y |
Missense |
5/31 |
- |
1 |
12-116460303-C-G |
c.583G>C |
p.E195Q |
Missense |
5/31 |
- |
1 |
12-116460308-T-C |
c.578A>G |
p.N193S |
Missense |
5/31 |
- |
1 |
12-116460312-T-A |
c.574A>T |
p.I192F |
Missense |
5/31 |
- |
1 |
12-116460313-C-A |
c.573G>T |
p.L191F |
Missense |
5/31 |
- |
2 |
12-116460313-C-G |
c.573G>C |
p.L191F |
Missense |
5/31 |
- |
2 |
12-116460320-A-G |
c.566T>C |
p.I189T |
Missense |
5/31 |
- |
1 |
12-116460322-T-C |
c.564A>G |
p.P188= |
Synonymous |
5/31 |
- |
1 |
12-116460324-G-A |
c.562C>T |
p.P188S |
Missense |
5/31 |
- |
1 |
12-116460325-C-A |
c.561G>T |
p.Q187H |
Missense |
5/31 |
- |
1 |
12-116460325-C-G |
c.561G>C |
p.Q187H |
Missense |
5/31 |
- |
1 |
12-116460325-C-T |
c.561G>A |
p.Q187= |
Synonymous |
5/31 |
- |
3 |
12-116460329-T-G |
c.557A>C |
p.H186P |
Missense |
5/31 |
- |
1 |
12-116460338-A-G |
c.548T>C |
p.I183T |
Missense |
5/31 |
- |
1 |
12-116460345-C-T |
c.541G>A |
p.V181M |
Missense |
5/31 |
- |
2 |
12-116460347-C-T |
c.539G>A |
p.S180N |
Missense |
5/31 |
- |
1 |
12-116460349-T-A |
c.537A>T |
p.T179= |
Synonymous |
5/31 |
- |
1 |
12-116460349-T-C |
c.537A>G |
p.T179= |
Synonymous |
5/31 |
- |
1 |
12-116460349-T-G |
c.537A>C |
p.T179= |
Synonymous |
5/31 |
- |
1 |
12-116460350-G-A |
c.536C>T |
p.T179I |
Missense |
5/31 |
- |
1 |
12-116460353-C-T |
c.533G>A |
p.C178Y |
Missense |
5/31 |
- |
1 |
12-116460357-C-T |
c.529G>A |
p.V177I |
Missense |
5/31 |
- |
1 |
12-116460358-A-G |
c.528T>C |
p.N176= |
Synonymous |
5/31 |
- |
1 |
12-116460363-TTTC-T |
c.520_522del |
p.E174del |
InFrameDeletion |
5/31 |
- |
1 |
12-116460366-C-A |
c.520G>T |
p.E174* |
Nonsense |
5/31 |
- |
1 |
12-116460369-CA-AT |
c.516_517delinsAT |
p.H172_G173delinsQ* |
MultiAAMissense |
5/31 |
- |
1 |
12-116460370-A-C |
c.516T>G |
p.H172Q |
Missense |
5/31 |
- |
1 |
12-116460375-G-A |
c.511C>T |
p.L171= |
Synonymous |
5/31 |
- |
1 |
12-116460379-G-C |
c.507C>G |
p.F169L |
Missense |
5/31 |
- |
1 |
12-116460379-G-T |
c.507C>A |
p.F169L |
Missense |
5/31 |
- |
1 |
12-116460381-A-G |
c.505T>C |
p.F169L |
Missense |
5/31 |
- |
1 |
12-116460384-T-C |
c.502A>G |
p.T168A |
Missense |
5/31 |
- |
1 |
12-116460389-G-A |
c.497C>T |
p.A166V |
Missense |
5/31 |
- |
1 |
12-116460390-C-T |
c.496G>A |
p.A166T |
Missense |
5/31 |
- |
1 |
12-116460392-C-G |
c.494G>C |
p.C165S |
Missense |
5/31 |
- |
1 |
12-116460398-A-G |
c.488T>C |
p.L163S |
Missense |
5/31 |
- |
1 |
12-116460398-CAAAT-C |
c.485_488del |
p.H162Rfs*29 |
Frameshift |
5/31 |
- |
1 |
12-116460405-C-T |
c.481G>A |
p.E161K |
Missense |
5/31 |
- |
1 |
12-116461356-A-C |
c.480-950T>G |
- |
IntronicSNV |
- |
4/30 |
1 |
12-116489008-A-G |
c.480-28602T>C |
- |
IntronicSNV |
- |
4/30 |
1 |
12-116497873-C-T |
c.479+36601G>A |
- |
IntronicSNV |
- |
4/30 |
1 |
12-116503263-T-C |
c.479+31211A>G |
- |
IntronicSNV |
- |
4/30 |
1 |
12-116507140-A-G |
c.479+27334T>C |
- |
IntronicSNV |
- |
4/30 |
1 |
12-116512123-C-T |
c.479+22351G>A |
- |
IntronicSNV |
- |
4/30 |
1 |
12-116512124-C-T |
c.479+22350G>A |
- |
IntronicSNV |
- |
4/30 |
1 |
12-116514198-T-C |
c.479+20276A>G |
- |
IntronicSNV |
- |
4/30 |
1 |
12-116518341-C-G |
c.479+16133G>C |
- |
IntronicSNV |
- |
4/30 |
1 |
12-116523047-C-T |
c.479+11427G>A |
- |
IntronicSNV |
- |
4/30 |
1 |
12-116526603-GA-G |
c.479+7870del |
- |
IntronicDeletion |
- |
4/30 |
1 |
12-116526780-AT-A |
c.479+7693del |
- |
IntronicDeletion |
- |
4/30 |
1 |
12-116528262-C-T |
c.479+6212G>A |
- |
IntronicSNV |
- |
4/30 |
1 |
12-116528968-C-A |
c.479+5506G>T |
- |
IntronicSNV |
- |
4/30 |
1 |
12-116533057-A-G |
c.479+1417T>C |
- |
IntronicSNV |
- |
4/30 |
1 |
12-116533056-GA-G |
c.479+1417del |
- |
IntronicDeletion |
- |
4/30 |
1 |
12-116534386-AT-A |
c.479+87del |
- |
IntronicDeletion |
- |
4/30 |
1 |
12-116534474-C-A |
c.479G>T |
p.S160I |
Missense |
4/31 |
- |
3 |
12-116534477-T-C |
c.476A>G |
p.K159R |
Missense |
4/31 |
- |
1 |
12-116534480-T-C |
c.473A>G |
p.N158S |
Missense |
4/31 |
- |
1 |
12-116534486-G-A |
c.467C>T |
p.P156L |
Missense |
4/31 |
- |
1 |
12-116534488-C-A |
c.465G>T |
p.K155N |
Missense |
4/31 |
- |
1 |
12-116534488-C-G |
c.465G>C |
p.K155N |
Missense |
4/31 |
- |
1 |
12-116534489-T-C |
c.464A>G |
p.K155R |
Missense |
4/31 |
- |
1 |
12-116534492-T-C |
c.461A>G |
p.E154G |
Missense |
4/31 |
- |
1 |
12-116534493-C-A |
c.460G>T |
p.E154* |
Nonsense |
4/31 |
- |
1 |
12-116534493-C-T |
c.460G>A |
p.E154K |
Missense |
4/31 |
- |
1 |
12-116534495-T-A |
c.458A>T |
p.D153V |
Missense |
4/31 |
- |
1 |
12-116534497-C-A |
c.456G>T |
p.K152N |
Missense |
4/31 |
- |
1 |
12-116534497-C-G |
c.456G>C |
p.K152N |
Missense |
4/31 |
- |
1 |
12-116534498-T-C |
c.455A>G |
p.K152R |
Missense |
4/31 |
- |
1 |
12-116534502-C-A |
c.451G>T |
p.E151* |
Nonsense |
4/31 |
- |
1 |
12-116534502-C-T |
c.451G>A |
p.E151K |
Missense |
4/31 |
- |
8 |
12-116534503-G-A |
c.450C>T |
p.Y150= |
Synonymous |
4/31 |
- |
1 |
12-116534506-G-A |
c.447C>T |
p.P149= |
Synonymous |
4/31 |
- |
2 |
12-116534507-G-A |
c.446C>T |
p.P149L |
Missense |
4/31 |
- |
2 |
12-116534508-G-A |
c.445C>T |
p.P149S |
Missense |
4/31 |
- |
3 |
12-116534510-C-T |
c.443G>A |
p.R148Q |
Missense |
4/31 |
- |
1 |
12-116534517-A-C |
c.436T>G |
p.F146V |
Missense |
4/31 |
- |
1 |
12-116534519-C-A |
c.434G>T |
p.W145L |
Missense |
4/31 |
- |
4 |
12-116534524-C-T |
c.429G>A |
p.G143= |
Synonymous |
4/31 |
- |
1 |
12-116534531-C-T |
c.422G>A |
p.R141K |
Missense |
4/31 |
- |
1 |
12-116534531-CT-AG |
c.421_422inv |
p.R141L |
Missense |
4/31 |
- |
1 |
12-116534531-CT-TG |
c.421_422delinsCA |
p.R141Q |
Missense |
4/31 |
- |
1 |
12-116534535-C-G |
c.418G>C |
p.V140L |
Missense |
4/31 |
- |
1 |
12-116534535-C-T |
c.418G>A |
p.V140I |
Missense |
4/31 |
- |
5 |
12-116534536-G-A |
c.417C>T |
p.F139= |
Synonymous |
4/31 |
- |
6 |
12-116534542-C-G |
c.411G>C |
p.K137N |
Missense |
4/31 |
- |
1 |
12-116534545-A-C |
c.408T>G |
p.D136E |
Missense |
4/31 |
- |
1 |
12-116534548-C-G |
c.405G>C |
p.M135I |
Missense |
4/31 |
- |
1 |
12-116534549-A-G |
c.404T>C |
p.M135T |
Missense |
4/31 |
- |
2 |
12-116534551-T-G |
c.402A>C |
p.L134= |
Synonymous |
4/31 |
- |
3 |
12-116534553-G-A |
c.400C>T |
p.L134= |
Synonymous |
4/31 |
- |
1 |
12-116534554-G-A |
c.399C>T |
p.C133= |
Synonymous |
4/31 |
- |
1 |
12-116534557-C-T |
c.396G>A |
p.R132= |
Synonymous |
4/31 |
- |
1 |
12-116549234-T-G |
c.394A>C |
p.R132= |
Synonymous |
3/31 |
- |
1 |
12-116535976-G-A |
c.396-1419C>T |
- |
IntronicSNV |
- |
3/30 |
1 |
12-116536429-C-CAG |
c.396-1874_396-1873dup |
- |
IntronicInsertion |
- |
3/30 |
3 |
12-116542034-C-A |
c.395+7199G>T |
- |
IntronicSNV |
- |
3/30 |
1 |
12-116542555-T-G |
c.395+6678A>C |
- |
IntronicSNV |
- |
3/30 |
1 |
12-116547330-TA-T |
c.395+1902del |
- |
IntronicDeletion |
- |
3/30 |
1 |
12-116548697-GA-G |
c.395+535del |
- |
IntronicDeletion |
- |
3/30 |
1 |
12-116549155-G-A |
c.395+78C>T |
- |
IntronicSNV |
- |
3/30 |
1 |
12-116549173-T-C |
c.395+60A>G |
- |
IntronicSNV |
- |
3/30 |
2 |
12-116549231-A-C |
c.395+2T>G |
- |
IntronicSNV |
- |
3/30 |
3 |
12-116549232-C-T |
c.395+1G>A |
- |
IntronicSNV |
- |
3/30 |
1 |
12-116549234-T-C |
c.394A>G |
p.R132G |
Missense |
3/31 |
- |
1 |
12-116549237-C-G |
c.391G>C |
p.E131Q |
Missense |
3/31 |
- |
3 |
12-116549243-G-A |
c.385C>T |
p.L129= |
Synonymous |
3/31 |
- |
2 |
12-116549243-G-C |
c.385C>G |
p.L129V |
Missense |
3/31 |
- |
2 |
12-116549250-G-T |
c.378C>A |
p.I126= |
Synonymous |
3/31 |
- |
1 |
12-116549251-A-AGC |
c.376_377insGC |
p.I126Sfs*6 |
Frameshift |
3/31 |
- |
1 |
12-116549252-T-A |
c.376A>T |
p.I126F |
Missense |
3/31 |
- |
1 |
12-116549253-C-A |
c.375G>T |
p.A125= |
Synonymous |
3/31 |
- |
1 |
12-116549253-C-G |
c.375G>C |
p.A125= |
Synonymous |
3/31 |
- |
1 |
12-116549253-C-T |
c.375G>A |
p.A125= |
Synonymous |
3/31 |
- |
1 |
12-116549254-CG-C |
c.374del |
p.A125Gfs*6 |
Frameshift |
3/31 |
- |
1 |
12-116549254-G-A |
c.374C>T |
p.A125V |
Missense |
3/31 |
- |
1 |
12-116549265-CAG-AAA |
c.361_363delinsTTT |
p.L121F |
Missense |
3/31 |
- |
1 |
12-116549266-A-T |
c.362T>A |
p.L121Q |
Missense |
3/31 |
- |
2 |
12-116549268-C-T |
c.360G>A |
p.T120= |
Synonymous |
3/31 |
- |
2 |
12-116549269-G-A |
c.359C>T |
p.T120M |
Missense |
3/31 |
- |
1 |
12-116549269-G-C |
c.359C>G |
p.T120R |
Missense |
3/31 |
- |
1 |
12-116549271-C-A |
c.357G>T |
p.R119S |
Missense |
3/31 |
- |
2 |
12-116549271-C-G |
c.357G>C |
p.R119S |
Missense |
3/31 |
- |
1 |
12-116549275-C-T |
c.353G>A |
p.C118Y |
Missense |
3/31 |
- |
1 |
12-116549278-T-C |
c.350A>G |
p.E117G |
Missense |
3/31 |
- |
1 |
12-116549282-A-G |
c.346T>C |
p.Y116H |
Missense |
3/31 |
- |
1 |
12-116549284-G-A |
c.344C>T |
p.S115F |
Missense |
3/31 |
- |
5 |
12-116549284-GA-AG |
c.343_344delinsCT |
p.S115L |
Missense |
3/31 |
- |
1 |
12-116549291-C-A |
c.337G>T |
p.G113C |
Missense |
3/31 |
- |
1 |
12-116549291-C-G |
c.337G>C |
p.G113R |
Missense |
3/31 |
- |
1 |
12-116549292-A-AT |
c.335dup |
p.N112Kfs*6 |
Frameshift |
3/31 |
- |
3 |
12-116549298-C-T |
c.330G>A |
p.W110* |
Nonsense |
3/31 |
- |
1 |
12-116549299-C-T |
c.329G>A |
p.W110* |
Nonsense |
3/31 |
- |
6 |
12-116549305-C-T |
c.323G>A |
p.G108E |
Missense |
3/31 |
- |
2 |
12-116549311-T-A |
c.317A>T |
p.E106V |
Missense |
3/31 |
- |
3 |
12-116549311-T-C |
c.317A>G |
p.E106G |
Missense |
3/31 |
- |
1 |
12-116549312-C-T |
c.316G>A |
p.E106K |
Missense |
3/31 |
- |
1 |
12-116549315-C-A |
c.313G>T |
p.V105L |
Missense |
3/31 |
- |
1 |
12-116549317-A-C |
c.311T>G |
p.V104G |
Missense |
3/31 |
- |
1 |
12-116555786-A-C |
c.311-6469T>G |
- |
IntronicSNV |
- |
2/30 |
2 |
12-116555786-A-T |
c.311-6469T>A |
- |
IntronicSNV |
- |
2/30 |
2 |
12-116561963-C-G |
c.311-12646G>C |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116579736-G-A |
c.311-30419C>T |
- |
IntronicSNV |
- |
2/30 |
2 |
12-116579736-G-C |
c.311-30419C>G |
- |
IntronicSNV |
- |
2/30 |
2 |
12-116579736-G-T |
c.311-30419C>A |
- |
IntronicSNV |
- |
2/30 |
2 |
12-116580291-G-A |
c.311-30974C>T |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116580291-G-C |
c.311-30974C>G |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116581796-T-C |
c.311-32479A>G |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116586416-A-C |
c.311-37099T>G |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116586541-A-G |
c.311-37224T>C |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116603726-G-A |
c.311-54409C>T |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116608487-C-T |
c.311-59170G>A |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116614755-T-C |
c.310+60518A>G |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116617757-C-A |
c.310+57516G>T |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116617757-C-T |
c.310+57516G>A |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116631468-A-T |
c.310+43805T>A |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116631467-TA-T |
c.310+43805del |
- |
IntronicDeletion |
- |
2/30 |
1 |
12-116634072-T-C |
c.310+41201A>G |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116634170-G-A |
c.310+41103C>T |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116634170-G-C |
c.310+41103C>G |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116634170-G-T |
c.310+41103C>A |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116638019-CT-C |
c.310+37253del |
- |
IntronicDeletion |
- |
2/30 |
1 |
12-116641745-AT-A |
c.310+33527del |
- |
IntronicDeletion |
- |
2/30 |
1 |
12-116644427-T-G |
c.310+30846A>C |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116644426-CT-C |
c.310+30846del |
- |
IntronicDeletion |
- |
2/30 |
1 |
12-116645078-T-C |
c.310+30195A>G |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116645420-T-C |
c.310+29853A>G |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116645483-A-G |
c.310+29790T>C |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116646361-A-C |
c.310+28912T>G |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116648318-G-GA |
c.310+26954dup |
- |
IntronicInsertion |
- |
2/30 |
1 |
12-116653660-A-G |
c.310+21613T>C |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116656705-AT-A |
c.310+18567del |
- |
IntronicDeletion |
- |
2/30 |
1 |
12-116659561-G-A |
c.310+15712C>T |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116661137-TA-T |
c.310+14135del |
- |
IntronicDeletion |
- |
2/30 |
1 |
12-116664576-A-G |
c.310+10697T>C |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116666752-AT-A |
c.310+8520del |
- |
IntronicDeletion |
- |
2/30 |
1 |
12-116668429-TA-T |
c.310+6843del |
- |
IntronicDeletion |
- |
2/30 |
1 |
12-116673809-G-GA |
c.310+1463dup |
- |
IntronicInsertion |
- |
2/30 |
1 |
12-116674681-C-T |
c.310+592G>A |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116675272-C-G |
c.310+1G>C |
- |
IntronicSNV |
- |
2/30 |
1 |
12-116675273-CCTG-C |
c.307_309del |
p.Q103del |
InFrameDeletion |
2/31 |
- |
1 |
12-116675277-C-A |
c.306G>T |
p.L102= |
Synonymous |
2/31 |
- |
2 |
12-116675277-C-G |
c.306G>C |
p.L102= |
Synonymous |
2/31 |
- |
2 |
12-116675277-C-T |
c.306G>A |
p.L102= |
Synonymous |
2/31 |
- |
3 |
12-116675279-G-A |
c.304C>T |
p.L102= |
Synonymous |
2/31 |
- |
3 |
12-116675285-G-A |
c.298C>T |
p.H100Y |
Missense |
2/31 |
- |
1 |
12-116675287-T-C |
c.296A>G |
p.H99R |
Missense |
2/31 |
- |
1 |
12-116675289-T-A |
c.294A>T |
p.I98= |
Synonymous |
2/31 |
- |
1 |
12-116675289-T-G |
c.294A>C |
p.I98= |
Synonymous |
2/31 |
- |
1 |
12-116675294-C-T |
c.289G>A |
p.V97I |
Missense |
2/31 |
- |
1 |
12-116675295-A-T |
c.288T>A |
p.G96= |
Synonymous |
2/31 |
- |
1 |
12-116675300-C-A |
c.283G>T |
p.V95L |
Missense |
2/31 |
- |
3 |
12-116675300-C-G |
c.283G>C |
p.V95L |
Missense |
2/31 |
- |
5 |
12-116675305-T-C |
c.278A>G |
p.N93S |
Missense |
2/31 |
- |
1 |
12-116675308-G-A |
c.275C>T |
p.P92L |
Missense |
2/31 |
- |
1 |
12-116675309-G-A |
c.274C>T |
p.P92S |
Missense |
2/31 |
- |
2 |
12-116675312-C-G |
c.271G>C |
p.E91Q |
Missense |
2/31 |
- |
1 |
12-116675312-C-T |
c.271G>A |
p.E91K |
Missense |
2/31 |
- |
1 |
12-116675313-A-G |
c.270T>C |
p.D90= |
Synonymous |
2/31 |
- |
1 |
12-116675317-C-T |
c.266G>A |
p.G89E |
Missense |
2/31 |
- |
1 |
12-116675319-C-G |
c.264G>C |
p.W88C |
Missense |
2/31 |
- |
1 |
12-116675319-C-T |
c.264G>A |
p.W88* |
Nonsense |
2/31 |
- |
1 |
12-116675320-C-T |
c.263G>A |
p.W88* |
Nonsense |
2/31 |
- |
1 |
12-116675329-A-C |
c.254T>G |
p.I85R |
Missense |
2/31 |
- |
1 |
12-116675330-T-C |
c.253A>G |
p.I85V |
Missense |
2/31 |
- |
1 |
12-116675332-C-G |
c.251G>C |
p.W84S |
Missense |
2/31 |
- |
1 |
12-116675334-T-A |
c.249A>T |
p.L83F |
Missense |
2/31 |
- |
1 |
12-116675334-T-G |
c.249A>C |
p.L83F |
Missense |
2/31 |
- |
3 |
12-116675334-T-C |
c.249A>G |
p.L83= |
Synonymous |
2/31 |
- |
2 |
12-116675336-A-G |
c.247T>C |
p.L83= |
Synonymous |
2/31 |
- |
1 |
12-116675340-T-A |
c.243A>T |
p.K81N |
Missense |
2/31 |
- |
1 |
12-116675340-T-G |
c.243A>C |
p.K81N |
Missense |
2/31 |
- |
1 |
12-116675341-T-G |
c.242A>C |
p.K81T |
Missense |
2/31 |
- |
2 |
12-116675342-T-C |
c.241A>G |
p.K81E |
Missense |
2/31 |
- |
2 |
12-116675352-T-C |
c.231A>G |
p.K77= |
Synonymous |
2/31 |
- |
1 |
12-116675353-T-C |
c.230A>G |
p.K77R |
Missense |
2/31 |
- |
2 |
12-116675356-A-G |
c.227T>C |
p.V76A |
Missense |
2/31 |
- |
2 |
12-116675361-ACG-CTT |
c.220_222delinsAAG |
p.R74K |
Missense |
2/31 |
- |
1 |
12-116675366-G-A |
c.217C>T |
p.R73C |
Missense |
2/31 |
- |
2 |
12-116675366-G-C |
c.217C>G |
p.R73G |
Missense |
2/31 |
- |
1 |
12-116675372-C-T |
c.211G>A |
p.V71I |
Missense |
2/31 |
- |
1 |
12-116675374-C-A |
c.209G>T |
p.C70F |
Missense |
2/31 |
- |
1 |
12-116675378-G-A |
c.205C>T |
p.L69F |
Missense |
2/31 |
- |
1 |
12-116675379-C-A |
c.204G>T |
p.L68= |
Synonymous |
2/31 |
- |
1 |
12-116675379-C-G |
c.204G>C |
p.L68= |
Synonymous |
2/31 |
- |
1 |
12-116675379-C-T |
c.204G>A |
p.L68= |
Synonymous |
2/31 |
- |
1 |
12-116675381-G-A |
c.202C>T |
p.L68= |
Synonymous |
2/31 |
- |
1 |
12-116675382-G-A |
c.201C>T |
p.N67= |
Synonymous |
2/31 |
- |
1 |
12-116675386-GC-AT |
c.196_197delinsAT |
p.A66I |
Missense |
2/31 |
- |
1 |
12-116675386-G-T |
c.197C>A |
p.A66D |
Missense |
2/31 |
- |
2 |
12-116675386-G-GCCTCCTCCTCTTTCT |
c.196_197insAGAAAGAGGAGGAGG |
p.Q65_A66insEKEEE |
InFrameInsertion |
2/31 |
- |
1 |
12-116675387-C-G |
c.196G>C |
p.A66P |
Missense |
2/31 |
- |
1 |
12-116675387-C-T |
c.196G>A |
p.A66T |
Missense |
2/31 |
- |
1 |
12-116675389-T-G |
c.194A>C |
p.Q65P |
Missense |
2/31 |
- |
1 |
12-116675390-G-A |
c.193C>T |
p.Q65* |
Nonsense |
2/31 |
- |
1 |
12-116675394-A-G |
c.189T>C |
p.C63= |
Synonymous |
2/31 |
- |
1 |
12-116675395-C-G |
c.188G>C |
p.C63S |
Missense |
2/31 |
- |
1 |
12-116675396-A-G |
c.187T>C |
p.C63R |
Missense |
2/31 |
- |
4 |
12-116675396-A-T |
c.187T>A |
p.C63S |
Missense |
2/31 |
- |
2 |
12-116675397-GCG-CTT |
c.184_186delinsAAG |
p.R62K |
Missense |
2/31 |
- |
1 |
12-116675398-C-T |
c.185G>A |
p.R62H |
Missense |
2/31 |
- |
1 |
12-116675399-G-A |
c.184C>T |
p.R62C |
Missense |
2/31 |
- |
5 |
12-116675403-G-A |
c.180C>T |
p.F60= |
Synonymous |
2/31 |
- |
1 |
12-116675408-T-C |
c.175A>G |
p.S59G |
Missense |
2/31 |
- |
1 |
12-116675414-G-A |
c.169C>T |
p.L57= |
Synonymous |
2/31 |
- |
1 |
12-116675415-A-G |
c.168T>C |
p.I56= |
Synonymous |
2/31 |
- |
1 |
12-116675415-A-T |
c.168T>A |
p.I56= |
Synonymous |
2/31 |
- |
1 |
12-116675416-A-T |
c.167T>A |
p.I56N |
Missense |
2/31 |
- |
1 |
12-116675420-G-A |
c.163C>T |
p.P55S |
Missense |
2/31 |
- |
1 |
12-116675423-C-A |
c.160G>T |
p.D54Y |
Missense |
2/31 |
- |
1 |
12-116675428-T-A |
c.155A>T |
p.Q52L |
Missense |
2/31 |
- |
1 |
12-116675428-T-G |
c.155A>C |
p.Q52P |
Missense |
2/31 |
- |
1 |
12-116675429-G-A |
c.154C>T |
p.Q52* |
Nonsense |
2/31 |
- |
1 |
12-116675429-G-C |
c.154C>G |
p.Q52E |
Missense |
2/31 |
- |
2 |
12-116675437-GC-AT |
c.145_146delinsAT |
p.A49I |
Missense |
2/31 |
- |
1 |
12-116675445-T-A |
c.138A>T |
p.I46= |
Synonymous |
2/31 |
- |
1 |
12-116675445-T-G |
c.138A>C |
p.I46= |
Synonymous |
2/31 |
- |
1 |
12-116675447-T-C |
c.136A>G |
p.I46V |
Missense |
2/31 |
- |
1 |
12-116675450-G-A |
c.133C>T |
p.P45S |
Missense |
2/31 |
- |
1 |
12-116675452-C-G |
c.131G>C |
p.G44A |
Missense |
2/31 |
- |
1 |
12-116675452-C-T |
c.131G>A |
p.G44E |
Missense |
2/31 |
- |
1 |
12-116675454-A-G |
c.129T>C |
p.C43= |
Synonymous |
2/31 |
- |
1 |
12-116675459-C-G |
c.124G>C |
p.D42H |
Missense |
2/31 |
- |
1 |
12-116675461-C-A |
c.122G>T |
p.G41V |
Missense |
2/31 |
- |
1 |
12-116675458-T-TC |
c.124dup |
p.D42Gfs*13 |
Frameshift |
2/31 |
- |
3 |
12-116675462-C-A |
c.121G>T |
p.G41W |
Missense |
2/31 |
- |
2 |
12-116675462-C-G |
c.121G>C |
p.G41R |
Missense |
2/31 |
- |
1 |
12-116675462-C-T |
c.121G>A |
p.G41R |
Missense |
2/31 |
- |
1 |
12-116675463-A-G |
c.120T>C |
p.H40= |
Synonymous |
2/31 |
- |
2 |
12-116675465-G-T |
c.118C>A |
p.H40N |
Missense |
2/31 |
- |
1 |
12-116675467-C-T |
c.116G>A |
p.G39E |
Missense |
2/31 |
- |
1 |
12-116675468-C-A |
c.115G>T |
p.G39W |
Missense |
2/31 |
- |
1 |
12-116675474-A-T |
c.109T>A |
p.F37I |
Missense |
2/31 |
- |
2 |
12-116675471-C-CA |
c.111dup |
p.G38Wfs*17 |
Frameshift |
2/31 |
- |
1 |
12-116675478-G-T |
c.105C>A |
p.Y35* |
Nonsense |
2/31 |
- |
3 |
12-116675482-C-G |
c.101G>C |
p.R34T |
Missense |
2/31 |
- |
1 |
12-116675482-CT-AG |
c.100_101inv |
p.R34L |
Missense |
2/31 |
- |
1 |
12-116675485-C-T |
c.98G>A |
p.R33H |
Missense |
2/31 |
- |
2 |
12-116675486-G-A |
c.97C>T |
p.R33C |
Missense |
2/31 |
- |
2 |
12-116675491-T-C |
c.92A>G |
p.K31R |
Missense |
2/31 |
- |
1 |
12-116675494-A-G |
c.89T>C |
p.I30T |
Missense |
2/31 |
- |
1 |
12-116675495-T-A |
c.88A>T |
p.I30F |
Missense |
2/31 |
- |
1 |
12-116675500-G-A |
c.83C>T |
p.T28M |
Missense |
2/31 |
- |
8 |
12-116675502-G-A |
c.81C>T |
p.L27= |
Synonymous |
2/31 |
- |
3 |
12-116675502-G-C |
c.81C>G |
p.L27= |
Synonymous |
2/31 |
- |
1 |
12-116675502-G-T |
c.81C>A |
p.L27= |
Synonymous |
2/31 |
- |
1 |
12-116675504-G-A |
c.79C>T |
p.L27F |
Missense |
2/31 |
- |
1 |
12-116675505-T-C |
c.78A>G |
p.E26= |
Synonymous |
2/31 |
- |
1 |
12-116675507-C-T |
c.76G>A |
p.E26K |
Missense |
2/31 |
- |
1 |
12-116675508-A-G |
c.75T>C |
p.A25= |
Synonymous |
2/31 |
- |
2 |
12-116675509-GC-CA |
c.73_74delinsTG |
p.A25C |
Missense |
2/31 |
- |
1 |
12-116675689-C-G |
c.73-179G>C |
- |
IntronicSNV |
- |
1/30 |
2 |
12-116681258-C-T |
c.73-5748G>A |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116683588-C-G |
c.73-8078G>C |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116683588-C-T |
c.73-8078G>A |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116694110-A-C |
c.73-18600T>G |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116699675-T-C |
c.72+15190A>G |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116704445-C-T |
c.72+10420G>A |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116713621-G-A |
c.72+1244C>T |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116713811-T-C |
c.72+1054A>G |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116713826-G-C |
c.72+1039C>G |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116713892-GA-G |
c.72+972del |
- |
IntronicDeletion |
- |
1/30 |
1 |
12-116713910-C-T |
c.72+955G>A |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116714098-A-C |
c.72+767T>G |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116714113-T-G |
c.72+752A>C |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116714113-T-TTTTG |
c.72+751_72+752insCAAA |
- |
IntronicInsertion |
- |
1/30 |
1 |
12-116714113-TTG-T |
c.72+750_72+751del |
- |
IntronicDeletion |
- |
1/30 |
1 |
12-116714158-C-A |
c.72+707G>T |
- |
IntronicSNV |
- |
1/30 |
2 |
12-116714158-C-G |
c.72+707G>C |
- |
IntronicSNV |
- |
1/30 |
2 |
12-116714158-C-T |
c.72+707G>A |
- |
IntronicSNV |
- |
1/30 |
2 |
12-116714244-G-A |
c.72+621C>T |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116714244-G-T |
c.72+621C>A |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116714249-G-A |
c.72+616C>T |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116714489-G-A |
c.72+376C>T |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116714785-G-T |
c.72+80C>A |
- |
IntronicSNV |
- |
1/30 |
1 |
12-116714815-A-AC |
c.72+49dup |
- |
IntronicInsertion |
- |
1/30 |
1 |
12-116714815-AC-A |
c.72+49del |
- |
IntronicDeletion |
- |
1/30 |
1 |
12-116714869-G-A |
c.68C>T |
p.S23L |
Missense |
1/31 |
- |
1 |
12-116714869-GA-CT |
c.67_68delinsAG |
p.S23R |
Missense |
1/31 |
- |
1 |
12-116714871-A-C |
c.66T>G |
p.F22L |
Missense |
1/31 |
- |
1 |
12-116714871-A-G |
c.66T>C |
p.F22= |
Synonymous |
1/31 |
- |
1 |
12-116714885-G-A |
c.52C>T |
p.H18Y |
Missense |
1/31 |
- |
1 |
12-116714886-A-C |
c.51T>G |
p.C17W |
Missense |
1/31 |
- |
1 |
12-116714887-CA-GC |
c.49_50delinsGC |
p.C17A |
Missense |
1/31 |
- |
1 |
12-116714891-C-A |
c.46G>T |
p.D16Y |
Missense |
1/31 |
- |
1 |
12-116714891-C-T |
c.46G>A |
p.D16N |
Missense |
1/31 |
- |
1 |
12-116714894-C-T |
c.43G>A |
p.E15K |
Missense |
1/31 |
- |
1 |
12-116714901-C-A |
c.36G>T |
p.A12= |
Synonymous |
1/31 |
- |
1 |
12-116714901-C-G |
c.36G>C |
p.A12= |
Synonymous |
1/31 |
- |
1 |
12-116714901-CG-GT |
c.35_36delinsAC |
p.A12D |
Missense |
1/31 |
- |
1 |
12-116714901-C-T |
c.36G>A |
p.A12= |
Synonymous |
1/31 |
- |
1 |
12-116714902-GC-TA |
c.34_35delinsTA |
p.A12* |
Nonsense |
1/31 |
- |
1 |
12-116714902-GC-TG |
c.34_35delinsCA |
p.A12Q |
Missense |
1/31 |
- |
1 |
12-116714915-C-G |
c.22G>C |
p.V8L |
Missense |
1/31 |
- |
1 |
12-116714915-C-T |
c.22G>A |
p.V8M |
Missense |
1/31 |
- |
1 |
12-116714920-T-G |
c.17A>C |
p.N6T |
Missense |
1/31 |
- |
1 |
12-116714922-C-A |
c.15G>T |
p.A5= |
Synonymous |
1/31 |
- |
1 |
12-116714922-C-G |
c.15G>C |
p.A5= |
Synonymous |
1/31 |
- |
1 |
12-116714922-C-T |
c.15G>A |
p.A5= |
Synonymous |
1/31 |
- |
1 |
12-116714925-T-A |
c.12A>T |
p.A4= |
Synonymous |
1/31 |
- |
1 |
12-116714925-T-C |
c.12A>G |
p.A4= |
Synonymous |
1/31 |
- |
1 |
12-116714925-T-G |
c.12A>C |
p.A4= |
Synonymous |
1/31 |
- |
1 |
12-116714926-G-A |
c.11C>T |
p.A4V |
Missense |
1/31 |
- |
3 |
12-116714930-GC-G |
c.7del |
p.A3Rfs*44 |
Frameshift |
1/31 |
- |
1 |
12-116714934-C-A |
c.3G>T |
p.M1? |
Missense |
1/31 |
- |
1 |
12-116714934-C-G |
c.3G>C |
p.M1? |
Missense |
1/31 |
- |
1 |
12-116714934-C-T |
c.3G>A |
p.M1? |
Missense |
1/31 |
- |
1 |
12-116714936-T-C |
c.1A>G |
p.M1? |
Missense |
1/31 |
- |
1 |