TTC28

TTC28 tetratricopeptide repeat domain 28

Annotation transcript: NM_001145418.2

1722 unique variant annotations were identified in 488 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
22-28378219-G-A c.7436C>T p.S2479F Missense 23/23 - 2
22-28378219-GA-AG c.7435_7436delinsCT p.S2479L Missense 23/23 - 1
22-28378232-A-G c.7423T>C p.F2475L Missense 23/23 - 1
22-28378235-T-C c.7420A>G p.R2474G Missense 23/23 - 3
22-28378263-T-G c.7392A>C p.G2464= Synonymous 23/23 - 1
22-28378264-C-T c.7391G>A p.G2464E Missense 23/23 - 1
22-28378267-G-A c.7388C>T p.S2463F Missense 23/23 - 5
22-28378285-C-T c.7370G>A p.R2457H Missense 23/23 - 1
22-28378287-C-T c.7368G>A p.A2456= Synonymous 23/23 - 2
22-28378288-G-A c.7367C>T p.A2456V Missense 23/23 - 2
22-28378289-CG-C c.7365del p.A2456Rfs*4 Frameshift 23/23 - 1
22-28378294-G-A c.7361C>T p.A2454V Missense 23/23 - 3
22-28378295-C-A c.7360G>T p.A2454S Missense 23/23 - 1
22-28378295-C-T c.7360G>A p.A2454T Missense 23/23 - 1
22-28378301-C-T c.7354G>A p.A2452T Missense 23/23 - 1
22-28378302-G-A c.7353C>T p.P2451= Synonymous 23/23 - 2
22-28378302-G-C c.7353C>G p.P2451= Synonymous 23/23 - 2
22-28378302-G-T c.7353C>A p.P2451= Synonymous 23/23 - 4
22-28378304-G-A c.7351C>T p.P2451S Missense 23/23 - 1
22-28378310-C-T c.7345G>A p.G2449S Missense 23/23 - 2
22-28378312-G-A c.7343C>T p.A2448V Missense 23/23 - 1
22-28378313-C-T c.7342G>A p.A2448T Missense 23/23 - 2
22-28378316-G-A c.7339C>T p.P2447S Missense 23/23 - 2
22-28378320-C-A c.7335G>T p.P2445= Synonymous 23/23 - 1
22-28378320-C-G c.7335G>C p.P2445= Synonymous 23/23 - 1
22-28378320-C-T c.7335G>A p.P2445= Synonymous 23/23 - 4
22-28378321-G-T c.7334C>A p.P2445Q Missense 23/23 - 1
22-28378329-G-A c.7326C>T p.G2442= Synonymous 23/23 - 2
22-28378335-C-T c.7320G>A p.S2440= Synonymous 23/23 - 1
22-28378336-G-A c.7319C>T p.S2440L Missense 23/23 - 1
22-28378337-A-G c.7318T>C p.S2440P Missense 23/23 - 5
22-28378346-C-T c.7309G>A p.E2437K Missense 23/23 - 2
22-28378347-G-A c.7308C>T p.T2436= Synonymous 23/23 - 1
22-28378351-C-T c.7304G>A p.R2435H Missense 23/23 - 4
22-28378352-G-A c.7303C>T p.R2435C Missense 23/23 - 4
22-28378361-C-T c.7294G>A p.G2432R Missense 23/23 - 2
22-28378362-G-A c.7293C>T p.N2431= Synonymous 23/23 - 1
22-28378370-G-A c.7285C>T p.P2429S Missense 23/23 - 2
22-28378378-G-A c.7277C>T p.P2426L Missense 23/23 - 1
22-28378382-G-C c.7273C>G p.P2425A Missense 23/23 - 1
22-28378384-G-C c.7271C>G p.A2424G Missense 23/23 - 6
22-28378389-G-A c.7266C>T p.D2422= Synonymous 23/23 - 1
22-28378392-A-G c.7263T>C p.H2421= Synonymous 23/23 - 1
22-28378393-TGCTGCTGCAGGGACA-T c.7247_7261del p.L2416_Q2420del InFrameDeletion 23/23 - 1
22-28378400-G-A c.7255C>T p.Q2419* Nonsense 23/23 - 1
22-28378403-G-T c.7252C>A p.L2418M Missense 23/23 - 1
22-28378427-T-C c.7228A>G p.K2410E Missense 23/23 - 1
22-28378435-C-T c.7220G>A p.G2407E Missense 23/23 - 1
22-28378437-C-T c.7218G>A p.E2406= Synonymous 23/23 - 2
22-28378443-C-A c.7212G>T p.K2404N Missense 23/23 - 1
22-28378443-C-G c.7212G>C p.K2404N Missense 23/23 - 1
22-28378445-T-C c.7210A>G p.K2404E Missense 23/23 - 2
22-28378457-G-A c.7198C>T p.R2400W Missense 23/23 - 2
22-28378458-T-A c.7197A>T p.P2399= Synonymous 23/23 - 1
22-28378458-T-C c.7197A>G p.P2399= Synonymous 23/23 - 1
22-28378458-T-G c.7197A>C p.P2399= Synonymous 23/23 - 1
22-28378470-C-T c.7185G>A p.L2395= Synonymous 23/23 - 3
22-28378472-A-G c.7183T>C p.L2395= Synonymous 23/23 - 13
22-28378476-A-C c.7179T>G p.S2393R Missense 23/23 - 2
22-28378497-AG-CT c.7157_7158inv p.T2386K Missense 23/23 - 1
22-28378500-C-A c.7155G>T p.M2385I Missense 23/23 - 1
22-28378503-C-T c.7152G>A p.T2384= Synonymous 23/23 - 2
22-28378504-G-A c.7151C>T p.T2384M Missense 23/23 - 1
22-28378512-A-AC c.7142_7143insG p.P2382Sfs*22 Frameshift 23/23 - 1
22-28378513-GC-G c.7141del p.A2381Lfs*5 Frameshift 23/23 - 3
22-28378513-G-GC c.7141dup p.A2381Gfs*23 Frameshift 23/23 - 1
22-28378519-C-A c.7136G>T p.R2379L Missense 23/23 - 1
22-28378519-C-T c.7136G>A p.R2379Q Missense 23/23 - 2
22-28378569-C-A c.7086G>T p.M2362I Missense 23/23 - 1
22-28378571-T-G c.7084A>C p.M2362L Missense 23/23 - 1
22-28378589-C-T c.7066G>A p.A2356T Missense 23/23 - 1
22-28378592-G-T c.7063C>A p.Q2355K Missense 23/23 - 1
22-28378600-T-G c.7055A>C p.E2352A Missense 23/23 - 1
22-28378613-C-T c.7042G>A p.A2348T Missense 23/23 - 2
22-28378616-T-C c.7039A>G p.M2347V Missense 23/23 - 1
22-28378624-T-C c.7031A>G p.K2344R Missense 23/23 - 1
22-28378627-T-C c.7028A>G p.D2343G Missense 23/23 - 1
22-28378635-G-A c.7020C>T p.P2340= Synonymous 23/23 - 3
22-28378635-G-C c.7020C>G p.P2340= Synonymous 23/23 - 1
22-28378635-G-T c.7020C>A p.P2340= Synonymous 23/23 - 1
22-28378640-C-T c.7015G>A p.A2339T Missense 23/23 - 1
22-28378643-C-G c.7012G>C p.D2338H Missense 23/23 - 1
22-28378648-G-A c.7007C>T p.P2336L Missense 23/23 - 1
22-28378650-A-G c.7005T>C p.S2335= Synonymous 23/23 - 1
22-28378656-GCG-CCA c.6997_6999delinsTGG p.R2333W Missense 23/23 - 1
22-28378678-T-G c.6977A>C p.Y2326S Missense 23/23 - 1
22-28378687-G-A c.6968C>T p.A2323V Missense 23/23 - 1
22-28378688-C-G c.6967G>C p.A2323P Missense 23/23 - 9
22-28378695-G-A c.6960C>T p.P2320= Synonymous 23/23 - 2
22-28378695-G-C c.6960C>G p.P2320= Synonymous 23/23 - 2
22-28378695-G-T c.6960C>A p.P2320= Synonymous 23/23 - 3
22-28378700-C-T c.6955G>A p.A2319T Missense 23/23 - 1
22-28378707-A-G c.6948T>C p.A2316= Synonymous 23/23 - 1
22-28378721-G-A c.6934C>T p.H2312Y Missense 23/23 - 1
22-28378723-C-T c.6932G>A p.G2311D Missense 23/23 - 1
22-28378724-C-T c.6931G>A p.G2311S Missense 23/23 - 1
22-28378725-G-A c.6930C>T p.S2310= Synonymous 23/23 - 2
22-28378725-G-C c.6930C>G p.S2310= Synonymous 23/23 - 1
22-28378725-G-T c.6930C>A p.S2310= Synonymous 23/23 - 1
22-28378726-G-C c.6929C>G p.S2310C Missense 23/23 - 1
22-28378732-G-T c.6923C>A p.P2308Q Missense 23/23 - 1
22-28378743-C-T c.6912G>A p.R2304= Synonymous 23/23 - 1
22-28378748-G-A c.6907C>T p.P2303S Missense 23/23 - 1
22-28378750-G-C c.6905C>G p.S2302* Nonsense 23/23 - 1
22-28378750-G-T c.6905C>A p.S2302* Nonsense 23/23 - 1
22-28378752-T-C c.6903A>G p.K2301= Synonymous 23/23 - 1
22-28378765-G-C c.6890C>G p.A2297G Missense 23/23 - 1
22-28378766-C-T c.6889G>A p.A2297T Missense 23/23 - 1
22-28378767-G-A c.6888C>T p.S2296= Synonymous 23/23 - 1
22-28378780-C-T c.6875G>A p.S2292N Missense 23/23 - 2
22-28378805-G-T c.6850C>A p.P2284T Missense 23/23 - 1
22-28378810-T-G c.6845A>C p.D2282A Missense 23/23 - 3
22-28378815-GCT-G c.6839_6840del p.Q2280Pfs*7 Frameshift 23/23 - 2
22-28378817-G-T c.6838C>A p.Q2280K Missense 23/23 - 1
22-28378829-A-G c.6826T>C p.S2276P Missense 23/23 - 1
22-28378833-G-A c.6822C>T p.C2274= Synonymous 23/23 - 1
22-28378831-TCGCAGC-T c.6818_6823del p.G2273_C2274del InFrameDeletion 23/23 - 1
22-28378843-G-A c.6812C>T p.S2271L Missense 23/23 - 2
22-28378849-C-T c.6806G>A p.R2269Q Missense 23/23 - 2
22-28378869-G-A c.6786C>T p.S2262= Synonymous 23/23 - 3
22-28378872-G-C c.6783C>G p.D2261E Missense 23/23 - 2
22-28378872-G-T c.6783C>A p.D2261E Missense 23/23 - 2
22-28378880-T-A c.6775A>T p.I2259F Missense 23/23 - 1
22-28378882-G-C c.6773C>G p.S2258C Missense 23/23 - 1
22-28378887-C-A c.6768G>T p.E2256D Missense 23/23 - 2
22-28378887-C-G c.6768G>C p.E2256D Missense 23/23 - 1
22-28378893-G-A c.6762C>T p.T2254= Synonymous 23/23 - 1
22-28378896-G-A c.6759C>T p.T2253= Synonymous 23/23 - 1
22-28378896-G-C c.6759C>G p.T2253= Synonymous 23/23 - 1
22-28378896-G-T c.6759C>A p.T2253= Synonymous 23/23 - 1
22-28378904-T-A c.6751A>T p.S2251C Missense 23/23 - 1
22-28378907-T-C c.6748A>G p.S2250G Missense 23/23 - 1
22-28378909-T-C c.6746A>G p.Y2249C Missense 23/23 - 1
22-28378913-C-T c.6742G>A p.G2248R Missense 23/23 - 2
22-28378931-G-C c.6724C>G p.L2242V Missense 23/23 - 1
22-28378931-G-T c.6724C>A p.L2242M Missense 23/23 - 1
22-28378936-G-A c.6719C>T p.S2240F Missense 23/23 - 1
22-28378941-C-T c.6714G>A p.R2238= Synonymous 23/23 - 1
22-28378943-T-G c.6712A>C p.R2238= Synonymous 23/23 - 1
22-28378949-G-T c.6706C>A p.P2236T Missense 23/23 - 1
22-28378961-T-G c.6694A>C p.K2232Q Missense 23/23 - 1
22-28378965-A-C c.6690T>G p.T2230= Synonymous 23/23 - 1
22-28378965-A-G c.6690T>C p.T2230= Synonymous 23/23 - 1
22-28378965-A-T c.6690T>A p.T2230= Synonymous 23/23 - 1
22-28378968-G-A c.6687C>T p.V2229= Synonymous 23/23 - 1
22-28378972-G-A c.6683C>T p.P2228L Missense 23/23 - 1
22-28378974-TG-AC c.6680_6681delinsGT p.S2227C Missense 23/23 - 1
22-28378983-A-G c.6672T>C p.S2224= Synonymous 23/23 - 1
22-28378984-C-A c.6671G>T p.S2224I Missense 23/23 - 1
22-28378991-G-C c.6664C>G p.Q2222E Missense 23/23 - 2
22-28378996-G-A c.6659C>T p.S2220F Missense 23/23 - 1
22-28378996-G-C c.6659C>G p.S2220C Missense 23/23 - 1
22-28378998-G-A c.6657C>T p.L2219= Synonymous 23/23 - 2
22-28379011-C-T c.6644G>A p.S2215N Missense 23/23 - 1
22-28379016-C-A c.6639G>T p.A2213= Synonymous 23/23 - 2
22-28379016-C-G c.6639G>C p.A2213= Synonymous 23/23 - 2
22-28379016-C-T c.6639G>A p.A2213= Synonymous 23/23 - 4
22-28379017-G-A c.6638C>T p.A2213V Missense 23/23 - 1
22-28379058-C-A c.6597G>T p.A2199= Synonymous 23/23 - 3
22-28379058-C-G c.6597G>C p.A2199= Synonymous 23/23 - 2
22-28379058-C-T c.6597G>A p.A2199= Synonymous 23/23 - 3
22-28379059-G-A c.6596C>T p.A2199V Missense 23/23 - 1
22-28379066-C-T c.6589G>A p.V2197I Missense 23/23 - 2
22-28379067-G-A c.6588C>T p.G2196= Synonymous 23/23 - 1
22-28379069-C-T c.6586G>A p.G2196S Missense 23/23 - 1
22-28379070-G-A c.6585C>T p.D2195= Synonymous 23/23 - 1
22-28379072-CT-C c.6582del p.D2195Tfs*51 Frameshift 23/23 - 1
22-28379075-C-G c.6580G>C p.E2194Q Missense 23/23 - 1
22-28379076-A-G c.6579T>C p.P2193= Synonymous 23/23 - 1
22-28379089-T-C c.6566A>G p.K2189R Missense 23/23 - 1
22-28379096-C-A c.6559G>T p.V2187L Missense 23/23 - 1
22-28379096-C-G c.6559G>C p.V2187L Missense 23/23 - 1
22-28379103-G-A c.6552C>T p.G2184= Synonymous 23/23 - 3
22-28379103-G-C c.6552C>G p.G2184= Synonymous 23/23 - 1
22-28379103-G-T c.6552C>A p.G2184= Synonymous 23/23 - 1
22-28379104-C-T c.6551G>A p.G2184D Missense 23/23 - 4
22-28379105-C-T c.6550G>A p.G2184S Missense 23/23 - 2
22-28379120-G-A c.6535C>T p.R2179C Missense 23/23 - 8
22-28379128-G-A c.6527C>T p.A2176V Missense 23/23 - 1
22-28379139-ACT-TCA c.6514_6516delinsTGA p.S2172* Nonsense 23/23 - 1
22-28379181-A-G c.6474T>C p.D2158= Synonymous 23/23 - 2
22-28379198-T-C c.6457A>G p.S2153G Missense 23/23 - 2
22-28379210-A-G c.6445T>C p.S2149P Missense 23/23 - 1
22-28379214-C-A c.6441G>T p.V2147= Synonymous 23/23 - 1
22-28379214-C-G c.6441G>C p.V2147= Synonymous 23/23 - 1
22-28379214-C-T c.6441G>A p.V2147= Synonymous 23/23 - 1
22-28379216-C-T c.6439G>A p.V2147M Missense 23/23 - 1
22-28379217-G-A c.6438C>T p.T2146= Synonymous 23/23 - 3
22-28379217-G-C c.6438C>G p.T2146= Synonymous 23/23 - 1
22-28379217-G-T c.6438C>A p.T2146= Synonymous 23/23 - 1
22-28379220-A-G c.6435T>C p.S2145= Synonymous 23/23 - 1
22-28379226-C-A c.6429G>T p.T2143= Synonymous 23/23 - 1
22-28379226-C-G c.6429G>C p.T2143= Synonymous 23/23 - 1
22-28379226-C-T c.6429G>A p.T2143= Synonymous 23/23 - 1
22-28379227-G-A c.6428C>T p.T2143M Missense 23/23 - 1
22-28379235-G-C c.6420C>G p.S2140R Missense 23/23 - 1
22-28379235-G-T c.6420C>A p.S2140R Missense 23/23 - 1
22-28379237-T-G c.6418A>C p.S2140R Missense 23/23 - 1
22-28379248-G-A c.6407C>T p.S2136L Missense 23/23 - 1
22-28379258-T-C c.6397A>G p.T2133A Missense 23/23 - 1
22-28379261-C-T c.6394G>A p.D2132N Missense 23/23 - 2
22-28379262-T-A c.6393A>T p.S2131= Synonymous 23/23 - 7
22-28379262-T-C c.6393A>G p.S2131= Synonymous 23/23 - 1
22-28379262-T-G c.6393A>C p.S2131= Synonymous 23/23 - 1
22-28379269-G-T c.6386C>A p.A2129E Missense 23/23 - 1
22-28379278-C-G c.6377G>C p.G2126A Missense 23/23 - 1
22-28379288-G-A c.6367C>T p.Q2123* Nonsense 23/23 - 1
22-28379289-G-T c.6366C>A p.F2122L Missense 23/23 - 1
22-28379295-T-A c.6360A>T p.S2120= Synonymous 23/23 - 1
22-28379295-T-C c.6360A>G p.S2120= Synonymous 23/23 - 1
22-28379295-T-G c.6360A>C p.S2120= Synonymous 23/23 - 1
22-28379313-CAG-C c.6340_6341del p.L2114Dfs*26 Frameshift 23/23 - 1
22-28379319-C-A c.6336G>T p.M2112I Missense 23/23 - 1
22-28379319-C-G c.6336G>C p.M2112I Missense 23/23 - 1
22-28379319-C-T c.6336G>A p.M2112I Missense 23/23 - 1
22-28379322-T-A c.6333A>T p.K2111N Missense 23/23 - 1
22-28379322-T-G c.6333A>C p.K2111N Missense 23/23 - 2
22-28379325-C-T c.6330G>A p.V2110= Synonymous 23/23 - 1
22-28379331-A-C c.6324T>G p.S2108= Synonymous 23/23 - 2
22-28379331-A-G c.6324T>C p.S2108= Synonymous 23/23 - 2
22-28379331-A-T c.6324T>A p.S2108= Synonymous 23/23 - 2
22-28379332-G-A c.6323C>T p.S2108F Missense 23/23 - 1
22-28379336-T-G c.6319A>C p.N2107H Missense 23/23 - 1
22-28379354-C-A c.6301G>T p.G2101W Missense 23/23 - 1
22-28379366-C-T c.6289G>A p.V2097M Missense 23/23 - 1
22-28379367-C-A c.6288G>T p.S2096= Synonymous 23/23 - 1
22-28379367-C-G c.6288G>C p.S2096= Synonymous 23/23 - 1
22-28379367-C-T c.6288G>A p.S2096= Synonymous 23/23 - 2
22-28379368-G-A c.6287C>T p.S2096L Missense 23/23 - 1
22-28379374-C-G c.6281G>C p.R2094T Missense 23/23 - 1
22-28379374-C-T c.6281G>A p.R2094K Missense 23/23 - 1
22-28379378-T-A c.6277A>T p.M2093L Missense 23/23 - 1
22-28379380-CCT-C c.6273_6274del p.G2092Hfs*48 Frameshift 23/23 - 1
22-28379384-C-T c.6271G>A p.G2091R Missense 23/23 - 1
22-28379389-G-A c.6266C>T p.T2089I Missense 23/23 - 1
22-28379418-T-A c.6237A>T p.S2079= Synonymous 23/23 - 1
22-28379418-T-C c.6237A>G p.S2079= Synonymous 23/23 - 1
22-28379418-T-G c.6237A>C p.S2079= Synonymous 23/23 - 1
22-28379427-T-G c.6228A>C p.T2076= Synonymous 23/23 - 1
22-28379441-C-A c.6214G>T p.E2072* Nonsense 23/23 - 1
22-28379441-C-T c.6214G>A p.E2072K Missense 23/23 - 1
22-28379451-C-A c.6204G>T p.A2068= Synonymous 23/23 - 2
22-28379451-C-G c.6204G>C p.A2068= Synonymous 23/23 - 1
22-28379451-C-T c.6204G>A p.A2068= Synonymous 23/23 - 2
22-28379452-G-A c.6203C>T p.A2068V Missense 23/23 - 2
22-28379454-C-A c.6201G>T p.L2067F Missense 23/23 - 1
22-28379454-C-G c.6201G>C p.L2067F Missense 23/23 - 1
22-28379457-G-A c.6198C>T p.P2066= Synonymous 23/23 - 1
22-28379462-C-T c.6193G>A p.E2065K Missense 23/23 - 2
22-28379468-T-C c.6187A>G p.S2063G Missense 23/23 - 1
22-28379472-G-A c.6183C>T p.I2061= Synonymous 23/23 - 1
22-28379472-G-T c.6183C>A p.I2061= Synonymous 23/23 - 1
22-28379474-T-C c.6181A>G p.I2061V Missense 23/23 - 1
22-28379476-G-C c.6179C>G p.S2060C Missense 23/23 - 1
22-28379481-C-A c.6174G>T p.G2058= Synonymous 23/23 - 1
22-28379481-C-G c.6174G>C p.G2058= Synonymous 23/23 - 1
22-28379481-C-T c.6174G>A p.G2058= Synonymous 23/23 - 1
22-28379487-A-G c.6168T>C p.Y2056= Synonymous 23/23 - 1
22-28379519-G-A c.6136C>T p.R2046C Missense 23/23 - 1
22-28379531-G-A c.6124C>T p.P2042S Missense 23/23 - 1
22-28379531-G-T c.6124C>A p.P2042T Missense 23/23 - 1
22-28379541-C-A c.6114G>T p.R2038S Missense 23/23 - 1
22-28379541-C-G c.6114G>C p.R2038S Missense 23/23 - 1
22-28379547-C-A c.6108G>T p.L2036= Synonymous 23/23 - 1
22-28379547-C-G c.6108G>C p.L2036= Synonymous 23/23 - 1
22-28379547-C-T c.6108G>A p.L2036= Synonymous 23/23 - 1
22-28379549-G-A c.6106C>T p.L2036= Synonymous 23/23 - 1
22-28379548-A-T c.6107T>A p.L2036Q Missense 23/23 - 1
22-28379570-C-T c.6085G>A p.A2029T Missense 23/23 - 1
22-28379571-G-A c.6084C>T p.N2028= Synonymous 23/23 - 1
22-28379571-G-C c.6084C>G p.N2028K Missense 23/23 - 1
22-28379571-G-T c.6084C>A p.N2028K Missense 23/23 - 1
22-28379581-C-T c.6074G>A p.R2025Q Missense 23/23 - 3
22-28379597-G-A c.6058C>T p.R2020W Missense 23/23 - 4
22-28379598-TCC-GCT c.6055_6057delinsAGC p.G2019S Missense 23/23 - 1
22-28379600-C-A c.6055G>T p.G2019* Nonsense 23/23 - 1
22-28379603-C-G c.6052G>C p.G2018R Missense 23/23 - 2
22-28379603-C-T c.6052G>A p.G2018R Missense 23/23 - 3
22-28379604-G-A c.6051C>T p.P2017= Synonymous 23/23 - 1
22-28379611-C-T c.6044G>A p.G2015E Missense 23/23 - 3
22-28379620-G-A c.6035C>T p.S2012L Missense 23/23 - 1
22-28379628-C-A c.6027G>T p.E2009D Missense 23/23 - 1
22-28379630-C-T c.6025G>A p.E2009K Missense 23/23 - 1
22-28379631-G-A c.6024C>T p.P2008= Synonymous 23/23 - 1
22-28379631-G-C c.6024C>G p.P2008= Synonymous 23/23 - 1
22-28379631-G-T c.6024C>A p.P2008= Synonymous 23/23 - 1
22-28379646-G-A c.6009C>T p.S2003= Synonymous 23/23 - 1
22-28379655-G-A c.6000C>T p.S2000= Synonymous 23/23 - 1
22-28379656-G-A c.5999C>T p.S2000F Missense 23/23 - 1
22-28379656-GA-TT c.5998_5999delinsAA p.S2000N Missense 23/23 - 1
22-28379662-A-G c.5993T>C p.I1998T Missense 23/23 - 1
22-28379665-G-T c.5990C>A p.S1997Y Missense 23/23 - 1
22-28379699-C-T c.5956G>A p.A1986T Missense 23/23 - 1
22-28379700-G-A c.5955C>T p.I1985= Synonymous 23/23 - 2
22-28379700-G-T c.5955C>A p.I1985= Synonymous 23/23 - 1
22-28379707-T-C c.5948A>G p.D1983G Missense 23/23 - 1
22-28379709-C-A c.5946G>T p.A1982= Synonymous 23/23 - 1
22-28379709-C-G c.5946G>C p.A1982= Synonymous 23/23 - 1
22-28379709-C-T c.5946G>A p.A1982= Synonymous 23/23 - 2
22-28379713-C-T c.5942G>A p.G1981D Missense 23/23 - 1
22-28379722-GA-TT c.5932_5933delinsAA p.S1978N Missense 23/23 - 1
22-28379727-G-T c.5928C>A p.P1976= Synonymous 23/23 - 1
22-28379730-G-A c.5925C>T p.P1975= Synonymous 23/23 - 1
22-28379753-G-T c.5902C>A p.L1968M Missense 23/23 - 1
22-28379756-C-T c.5899G>A p.A1967T Missense 23/23 - 3
22-28379771-G-C c.5884C>G p.Q1962E Missense 23/23 - 1
22-28379774-C-T c.5881G>A p.A1961T Missense 23/23 - 1
22-28379779-G-T c.5876C>A p.A1959D Missense 23/23 - 1
22-28379789-C-T c.5866G>A p.E1956K Missense 23/23 - 1
22-28379797-GA-TT c.5857_5858delinsAA p.S1953N Missense 23/23 - 1
22-28379806-T-C c.5849A>G p.D1950G Missense 23/23 - 1
22-28381244-A-C c.5808T>G p.S1936= Synonymous 22/23 - 1
22-28381244-A-G c.5808T>C p.S1936= Synonymous 22/23 - 1
22-28381244-A-T c.5808T>A p.S1936= Synonymous 22/23 - 1
22-28381245-GA-CC c.5806_5807delinsGG p.S1936G Missense 22/23 - 1
22-28381245-G-C c.5807C>G p.S1936C Missense 22/23 - 4
22-28381247-C-A c.5805G>T p.L1935= Synonymous 22/23 - 2
22-28381247-C-G c.5805G>C p.L1935= Synonymous 22/23 - 2
22-28381247-C-T c.5805G>A p.L1935= Synonymous 22/23 - 2
22-28381248-A-T c.5804T>A p.L1935Q Missense 22/23 - 1
22-28381249-G-A c.5803C>T p.L1935= Synonymous 22/23 - 3
22-28381254-G-A c.5798C>T p.S1933F Missense 22/23 - 1
22-28381279-G-A c.5773C>T p.R1925W Missense 22/23 - 2
22-28381280-TCG-ACA c.5770_5772delinsTGT p.R1924C Missense 22/23 - 1
22-28381281-C-T c.5771G>A p.R1924Q Missense 22/23 - 1
22-28381282-G-A c.5770C>T p.R1924* Nonsense 22/23 - 1
22-28381291-G-C c.5761C>G p.Q1921E Missense 22/23 - 1
22-28381297-C-T c.5755G>A p.G1919R Missense 22/23 - 1
22-28381315-C-T c.5737G>A p.E1913K Missense 22/23 - 1
22-28381339-C-A c.5713G>T p.D1905Y Missense 22/23 - 1
22-28383812-G-T c.5707+2054C>A - IntronicSNV - 21/22 1
22-28383859-G-C c.5707+2007C>G - IntronicSNV - 21/22 1
22-28385703-A-G c.5707+163T>C - IntronicSNV - 21/22 1
22-28385712-T-G c.5707+154A>C - IntronicSNV - 21/22 1
22-28385876-C-T c.5697G>A p.L1899= Synonymous 21/23 - 1
22-28385879-G-A c.5694C>T p.F1898= Synonymous 21/23 - 1
22-28385884-C-T c.5689G>A p.E1897K Missense 21/23 - 1
22-28385885-G-A c.5688C>T p.H1896= Synonymous 21/23 - 1
22-28385895-G-A c.5678C>T p.P1893L Missense 21/23 - 1
22-28385895-G-T c.5678C>A p.P1893Q Missense 21/23 - 1
22-28385897-G-A c.5676C>T p.L1892= Synonymous 21/23 - 1
22-28385901-C-T c.5672G>A p.R1891Q Missense 21/23 - 2
22-28385902-G-A c.5671C>T p.R1891W Missense 21/23 - 1
22-28385922-G-A c.5651C>T p.S1884F Missense 21/23 - 1
22-28385929-G-C c.5644C>G p.Q1882E Missense 21/23 - 3
22-28385934-G-A c.5639C>T p.P1880L Missense 21/23 - 1
22-28385938-C-A c.5635G>T p.A1879S Missense 21/23 - 1
22-28385942-T-A c.5631A>T p.A1877= Synonymous 21/23 - 1
22-28385942-T-C c.5631A>G p.A1877= Synonymous 21/23 - 1
22-28385942-T-G c.5631A>C p.A1877= Synonymous 21/23 - 1
22-28385945-C-A c.5628G>T p.L1876F Missense 21/23 - 1
22-28385945-C-G c.5628G>C p.L1876F Missense 21/23 - 1
22-28385945-C-T c.5628G>A p.L1876= Synonymous 21/23 - 2
22-28385948-G-A c.5625C>T p.D1875= Synonymous 21/23 - 1
22-28385950-C-G c.5623G>C p.D1875H Missense 21/23 - 1
22-28385962-C-T c.5611G>A p.E1871K Missense 21/23 - 2
22-28385964-C-T c.5609G>A p.G1870D Missense 21/23 - 1
22-28385968-C-T c.5605G>A p.A1869T Missense 21/23 - 1
22-28385971-G-A c.5602C>T p.Q1868* Nonsense 21/23 - 1
22-28385986-C-A c.5587G>T p.V1863L Missense 21/23 - 1
22-28385986-C-G c.5587G>C p.V1863L Missense 21/23 - 1
22-28386620-A-G c.5577+157T>C - IntronicSNV - 20/22 1
22-28386746-G-A c.5577+31C>T - IntronicSNV - 20/22 1
22-28386793-T-G c.5561A>C p.K1854T Missense 20/23 - 1
22-28386789-AT-A c.5564del p.N1855Ifs*48 Frameshift 20/23 - 1
22-28386799-G-A c.5555C>T p.A1852V Missense 20/23 - 1
22-28386799-G-T c.5555C>A p.A1852D Missense 20/23 - 1
22-28388379-G-A c.5553+196C>T - IntronicSNV - 19/22 1
22-28388575-C-T c.5553G>A p.R1851= Synonymous 19/23 - 1
22-28388576-C-T c.5552G>A p.R1851Q Missense 19/23 - 1
22-28388577-G-A c.5551C>T p.R1851W Missense 19/23 - 1
22-28388581-G-C c.5547C>G p.I1849M Missense 19/23 - 1
22-28388583-T-G c.5545A>C p.I1849L Missense 19/23 - 1
22-28388601-C-T c.5527G>A p.E1843K Missense 19/23 - 1
22-28388603-G-A c.5525C>T p.S1842F Missense 19/23 - 1
22-28388603-GA-CG c.5524_5525delinsCG p.S1842R Missense 19/23 - 1
22-28388608-AG-CT c.5519_5520inv p.T1840K Missense 19/23 - 1
22-28388616-G-A c.5512C>T p.L1838F Missense 19/23 - 2
22-28388618-T-G c.5510A>C p.K1837T Missense 19/23 - 1
22-28388628-C-A c.5500G>T p.A1834S Missense 19/23 - 1
22-28388647-C-A c.5481G>T p.L1827= Synonymous 19/23 - 1
22-28388647-C-G c.5481G>C p.L1827= Synonymous 19/23 - 1
22-28388647-C-T c.5481G>A p.L1827= Synonymous 19/23 - 1
22-28388649-G-A c.5479C>T p.L1827= Synonymous 19/23 - 1
22-28389153-G-T c.5476+122C>A - IntronicSNV - 18/22 1
22-28389243-C-G c.5476+32G>C - IntronicSNV - 18/22 1
22-28389258-C-T c.5476+17G>A - IntronicSNV - 18/22 1
22-28389276-C-A c.5475G>T p.L1825= Synonymous 18/23 - 1
22-28389276-C-G c.5475G>C p.L1825= Synonymous 18/23 - 1
22-28389276-C-T c.5475G>A p.L1825= Synonymous 18/23 - 1
22-28389278-G-A c.5473C>T p.L1825= Synonymous 18/23 - 1
22-28389283-G-A c.5468C>T p.S1823F Missense 18/23 - 1
22-28389295-C-A c.5456G>T p.S1819I Missense 18/23 - 1
22-28389310-A-G c.5441T>C p.L1814P Missense 18/23 - 1
22-28389314-G-A c.5437C>T p.R1813W Missense 18/23 - 6
22-28389318-G-A c.5433C>T p.G1811= Synonymous 18/23 - 1
22-28389331-G-C c.5420C>G p.T1807S Missense 18/23 - 1
22-28389332-T-A c.5419A>T p.T1807S Missense 18/23 - 1
22-28389346-G-A c.5405C>T p.A1802V Missense 18/23 - 1
22-28389353-G-A c.5398C>T p.P1800S Missense 18/23 - 1
22-28389358-C-CCCTCCT c.5392_5393insAGGAGG p.S1797_G1798insEE InFrameInsertion 18/23 - 1
22-28389362-T-C c.5389A>G p.S1797G Missense 18/23 - 1
22-28389363-G-GCT c.5387_5388insAG p.S1797Afs*107 Frameshift 18/23 - 1
22-28389366-TTGGG-T c.5382_5385del p.T1796Vfs*106 Frameshift 18/23 - 1
22-28389370-G-A c.5381C>T p.P1794L Missense 18/23 - 1
22-28389371-G-T c.5380C>A p.P1794T Missense 18/23 - 1
22-28389366-TG-T c.5384del p.P1795Qfs*108 Frameshift 18/23 - 4
22-28389366-T-TG c.5384dup p.T1796Nfs*59 Frameshift 18/23 - 1
22-28389372-G-GCT c.5378_5379insAG p.D1793Efs*111 Frameshift 18/23 - 1
22-28389374-C-T c.5377G>A p.D1793N Missense 18/23 - 1
22-28389375-C-A c.5376G>T p.L1792= Synonymous 18/23 - 1
22-28389375-C-G c.5376G>C p.L1792= Synonymous 18/23 - 1
22-28389375-C-T c.5376G>A p.L1792= Synonymous 18/23 - 1
22-28389377-G-A c.5374C>T p.L1792= Synonymous 18/23 - 1
22-28389376-A-G c.5375T>C p.L1792P Missense 18/23 - 1
22-28389379-C-T c.5372G>A p.R1791Q Missense 18/23 - 6
22-28389383-AAG-A c.5367_5368del p.F1790Pfs*64 Frameshift 18/23 - 1
22-28389387-C-CCCCA c.5363_5364insTGGG p.F1790Gfs*66 Frameshift 18/23 - 1
22-28389390-CAG-C c.5360_5361del p.A1787Gfs*67 Frameshift 18/23 - 1
22-28389392-C-T c.5359G>A p.A1787T Missense 18/23 - 1
22-28389393-G-A c.5358C>T p.T1786= Synonymous 18/23 - 3
22-28389393-G-C c.5358C>G p.T1786= Synonymous 18/23 - 2
22-28389393-G-T c.5358C>A p.T1786= Synonymous 18/23 - 2
22-28389396-G-A c.5355C>T p.L1785= Synonymous 18/23 - 2
22-28389396-G-C c.5355C>G p.L1785= Synonymous 18/23 - 1
22-28389396-G-T c.5355C>A p.L1785= Synonymous 18/23 - 1
22-28389395-TGAGGAG-T c.5350_5355del p.L1784_L1785del InFrameDeletion 18/23 - 1
22-28389398-G-A c.5353C>T p.L1785F Missense 18/23 - 1
22-28389411-G-A c.5340C>T p.G1780= Synonymous 18/23 - 1
22-28389411-G-C c.5340C>G p.G1780= Synonymous 18/23 - 1
22-28389411-G-T c.5340C>A p.G1780= Synonymous 18/23 - 1
22-28389412-C-T c.5339G>A p.G1780D Missense 18/23 - 1
22-28389423-G-A c.5328C>T p.G1776= Synonymous 18/23 - 2
22-28389423-G-C c.5328C>G p.G1776= Synonymous 18/23 - 1
22-28389423-G-T c.5328C>A p.G1776= Synonymous 18/23 - 1
22-28389434-T-C c.5317A>G p.N1773D Missense 18/23 - 1
22-28389437-C-G c.5314G>C p.E1772Q Missense 18/23 - 1
22-28389453-T-A c.5298A>T p.T1766= Synonymous 18/23 - 1
22-28389453-T-C c.5298A>G p.T1766= Synonymous 18/23 - 4
22-28389453-T-G c.5298A>C p.T1766= Synonymous 18/23 - 1
22-28389463-G-A c.5288C>T p.A1763V Missense 18/23 - 3
22-28389464-C-A c.5287G>T p.A1763S Missense 18/23 - 1
22-28389469-C-A c.5282G>T p.R1761L Missense 18/23 - 1
22-28389469-C-T c.5282G>A p.R1761H Missense 18/23 - 6
22-28389482-G-C c.5269C>G p.Q1757E Missense 18/23 - 1
22-28389487-C-T c.5264G>A p.R1755H Missense 18/23 - 5
22-28389488-G-C c.5263C>G p.R1755G Missense 18/23 - 1
22-28389495-G-T c.5256C>A p.S1752= Synonymous 18/23 - 1
22-28389496-G-A c.5255C>T p.S1752F Missense 18/23 - 2
22-28390978-G-A c.5244+1145C>T - IntronicSNV - 17/22 1
22-28391115-G-A c.5244+1008C>T - IntronicSNV - 17/22 1
22-28391786-C-G c.5244+337G>C - IntronicSNV - 17/22 1
22-28392043-C-T c.5244+80G>A - IntronicSNV - 17/22 1
22-28392121-A-AC c.5244+1dup - SpliceDonorInsertion 17/23 - 1
22-28392123-C-A c.5244G>T p.L1748= Synonymous 17/23 - 1
22-28392123-CAG-AAA c.5242_5244delinsTTT p.L1748F Missense 17/23 - 1
22-28392123-CCAG-C c.5242_5244del p.L1748del InFrameDeletion 17/23 - 1
22-28392123-C-G c.5244G>C p.L1748= Synonymous 17/23 - 2
22-28392123-C-T c.5244G>A p.L1748= Synonymous 17/23 - 1
22-28392125-G-A c.5242C>T p.L1748= Synonymous 17/23 - 2
22-28392139-C-T c.5228G>A p.R1743Q Missense 17/23 - 3
22-28392141-GCA-G c.5225_5226del p.L1742Pfs*112 Frameshift 17/23 - 1
22-28392146-C-A c.5221G>T p.A1741S Missense 17/23 - 1
22-28392146-C-T c.5221G>A p.A1741T Missense 17/23 - 1
22-28392147-G-A c.5220C>T p.D1740= Synonymous 17/23 - 4
22-28392149-TCCC-T c.5216_5218del p.R1739_D1740delinsH MultiAAMissense 17/23 - 1
22-28392152-G-A c.5215C>T p.R1739W Missense 17/23 - 2
22-28392155-C-CGGG c.5211_5212insCCC p.R1737_A1738insP InFrameInsertion 17/23 - 1
22-28392158-G-A c.5209C>T p.R1737C Missense 17/23 - 1
22-28392158-G-GCC c.5208_5209insGG p.R1737Gfs*167 Frameshift 17/23 - 1
22-28392161-C-G c.5206G>C p.E1736Q Missense 17/23 - 1
22-28392161-C-T c.5206G>A p.E1736K Missense 17/23 - 2
22-28392163-G-A c.5204C>T p.P1735L Missense 17/23 - 1
22-28392163-G-GAGT c.5203_5204insACT p.P1735delinsHS MultiAAMissense 17/23 - 1
22-28392165-G-C c.5202C>G p.H1734Q Missense 17/23 - 1
22-28392174-G-A c.5193C>T p.I1731= Synonymous 17/23 - 1
22-28392174-G-T c.5193C>A p.I1731= Synonymous 17/23 - 1
22-28392177-C-A c.5190G>T p.E1730D Missense 17/23 - 2
22-28392177-C-G c.5190G>C p.E1730D Missense 17/23 - 2
22-28392189-C-T c.5178G>A p.Q1726= Synonymous 17/23 - 1
22-28392192-G-A c.5175C>T p.G1725= Synonymous 17/23 - 1
22-28392193-C-G c.5174G>C p.G1725A Missense 17/23 - 1
22-28392194-C-T c.5173G>A p.G1725S Missense 17/23 - 1
22-28392195-G-A c.5172C>T p.I1724= Synonymous 17/23 - 1
22-28392195-G-T c.5172C>A p.I1724= Synonymous 17/23 - 1
22-28392197-AT-A c.5170del p.I1724Sfs*179 Frameshift 17/23 - 1
22-28392198-G-A c.5169C>T p.L1723= Synonymous 17/23 - 1
22-28392218-G-T c.5149C>A p.L1717M Missense 17/23 - 1
22-28392224-C-T c.5143G>A p.V1715I Missense 17/23 - 4
22-28392227-C-T c.5140G>A p.D1714N Missense 17/23 - 1
22-28392229-C-A c.5138G>T p.S1713I Missense 17/23 - 1
22-28392230-T-C c.5137A>G p.S1713G Missense 17/23 - 2
22-28392231-CCC-GCT c.5134_5136delinsAGC p.G1712S Missense 17/23 - 1
22-28392238-A-C c.5129T>G p.L1710R Missense 17/23 - 1
22-28392239-G-A c.5128C>T p.L1710F Missense 17/23 - 1
22-28394539-G-C c.5108C>G p.S1703C Missense 16/23 - 1
22-28394543-G-A c.5104C>T p.P1702S Missense 16/23 - 1
22-28394554-G-C c.5093C>G p.A1698G Missense 16/23 - 1
22-28394575-T-G c.5072A>C p.K1691T Missense 16/23 - 1
22-28394585-C-T c.5062G>A p.E1688K Missense 16/23 - 1
22-28394587-C-T c.5060G>A p.G1687E Missense 16/23 - 1
22-28394588-C-T c.5059G>A p.G1687R Missense 16/23 - 2
22-28394590-A-T c.5057T>A p.L1686Q Missense 16/23 - 1
22-28394594-C-T c.5053G>A p.A1685T Missense 16/23 - 1
22-28394602-G-A c.5045C>T p.A1682V Missense 16/23 - 1
22-28394613-G-A c.5034C>T p.N1678= Synonymous 16/23 - 1
22-28394618-G-A c.5029C>T p.L1677= Synonymous 16/23 - 1
22-28394626-G-A c.5021C>T p.S1674L Missense 16/23 - 1
22-28394628-G-C c.5019C>G p.Y1673* Nonsense 16/23 - 1
22-28394628-G-T c.5019C>A p.Y1673* Nonsense 16/23 - 1
22-28394632-A-G c.5015T>C p.F1672S Missense 16/23 - 1
22-28394636-C-T c.5011G>A p.A1671T Missense 16/23 - 1
22-28394684-C-T c.4963G>A p.V1655M Missense 16/23 - 1
22-28394685-G-A c.4962C>T p.L1654= Synonymous 16/23 - 2
22-28394685-G-C c.4962C>G p.L1654= Synonymous 16/23 - 1
22-28394685-G-T c.4962C>A p.L1654= Synonymous 16/23 - 1
22-28394689-A-G c.4958T>C p.V1653A Missense 16/23 - 1
22-28394701-C-G c.4946G>C p.G1649A Missense 16/23 - 1
22-28394712-G-A c.4935C>T p.F1645= Synonymous 16/23 - 1
22-28394716-G-A c.4931C>T p.A1644V Missense 16/23 - 1
22-28394723-T-A c.4924A>T p.T1642S Missense 16/23 - 1
22-28394729-C-T c.4918G>A p.A1640T Missense 16/23 - 5
22-28394738-C-G c.4909G>C p.G1637R Missense 16/23 - 1
22-28394738-C-T c.4909G>A p.G1637R Missense 16/23 - 2
22-28394739-G-A c.4908C>T p.D1636= Synonymous 16/23 - 2
22-28394739-G-C c.4908C>G p.D1636E Missense 16/23 - 1
22-28394739-G-T c.4908C>A p.D1636E Missense 16/23 - 1
22-28394741-C-T c.4906G>A p.D1636N Missense 16/23 - 1
22-28394740-TCGG-T c.4904_4906del p.A1635del InFrameDeletion 16/23 - 1
22-28394761-G-C c.4886C>G p.S1629C Missense 16/23 - 1
22-28394773-G-A c.4874C>T p.S1625F Missense 16/23 - 2
22-28394776-C-G c.4871G>C p.G1624A Missense 16/23 - 1
22-28394786-C-A c.4861G>T p.V1621L Missense 16/23 - 1
22-28394786-C-G c.4861G>C p.V1621L Missense 16/23 - 1
22-28394795-C-T c.4852G>A p.V1618M Missense 16/23 - 1
22-28394797-G-T c.4850C>A p.P1617H Missense 16/23 - 2
22-28394806-A-T c.4841T>A p.L1614Q Missense 16/23 - 1
22-28394810-C-T c.4837G>A p.D1613N Missense 16/23 - 1
22-28394814-G-A c.4833C>T p.V1611= Synonymous 16/23 - 1
22-28394816-C-T c.4831G>A p.V1611I Missense 16/23 - 1
22-28394827-G-A c.4820C>T p.T1607I Missense 16/23 - 1
22-28394849-G-C c.4798C>G p.P1600A Missense 16/23 - 1
22-28394850-C-A c.4797G>T p.P1599= Synonymous 16/23 - 2
22-28394850-C-G c.4797G>C p.P1599= Synonymous 16/23 - 2
22-28394850-C-T c.4797G>A p.P1599= Synonymous 16/23 - 4
22-28394851-G-A c.4796C>T p.P1599L Missense 16/23 - 1
22-28394857-T-C c.4790A>G p.D1597G Missense 16/23 - 1
22-28394860-G-A c.4787C>T p.S1596L Missense 16/23 - 2
22-28394860-G-C c.4787C>G p.S1596W Missense 16/23 - 2
22-28394866-C-T c.4781G>A p.S1594N Missense 16/23 - 1
22-28394876-C-T c.4771G>A p.D1591N Missense 16/23 - 1
22-28394886-G-A c.4761C>T p.D1587= Synonymous 16/23 - 1
22-28394895-C-A c.4752G>T p.R1584= Synonymous 16/23 - 2
22-28394895-C-G c.4752G>C p.R1584= Synonymous 16/23 - 2
22-28394895-C-T c.4752G>A p.R1584= Synonymous 16/23 - 2
22-28394897-G-T c.4750C>A p.R1584= Synonymous 16/23 - 3
22-28394902-G-C c.4745C>G p.S1582C Missense 16/23 - 1
22-28394909-G-A c.4738C>T p.P1580S Missense 16/23 - 1
22-28394927-C-T c.4720G>A p.G1574S Missense 16/23 - 1
22-28394928-G-A c.4719C>T p.F1573= Synonymous 16/23 - 4
22-28394931-G-A c.4716C>T p.S1572= Synonymous 16/23 - 1
22-28394931-G-C c.4716C>G p.S1572= Synonymous 16/23 - 1
22-28394931-G-T c.4716C>A p.S1572= Synonymous 16/23 - 1
22-28394935-CT-AA c.4711_4712delinsTT p.S1571F Missense 16/23 - 1
22-28394962-A-G c.4685T>C p.M1562T Missense 16/23 - 1
22-28394967-G-A c.4680C>T p.P1560= Synonymous 16/23 - 1
22-28394970-C-A c.4677G>T p.T1559= Synonymous 16/23 - 1
22-28394970-C-G c.4677G>C p.T1559= Synonymous 16/23 - 1
22-28394970-C-T c.4677G>A p.T1559= Synonymous 16/23 - 1
22-28394971-G-A c.4676C>T p.T1559M Missense 16/23 - 4
22-28394983-G-A c.4664C>T p.A1555V Missense 16/23 - 2
22-28394985-C-G c.4662G>C p.S1554= Synonymous 16/23 - 3
22-28394985-C-T c.4662G>A p.S1554= Synonymous 16/23 - 3
22-28394994-C-T c.4653G>A p.W1551* Nonsense 16/23 - 1
22-28394997-G-A c.4650C>T p.S1550= Synonymous 16/23 - 3
22-28394997-G-C c.4650C>G p.S1550= Synonymous 16/23 - 1
22-28394997-G-T c.4650C>A p.S1550= Synonymous 16/23 - 1
22-28395020-C-T c.4627G>A p.V1543I Missense 16/23 - 1
22-28395022-C-T c.4625G>A p.C1542Y Missense 16/23 - 1
22-28395026-C-G c.4621G>C p.E1541Q Missense 16/23 - 1
22-28395045-C-A c.4602G>T p.M1534I Missense 16/23 - 1
22-28395045-C-G c.4602G>C p.M1534I Missense 16/23 - 1
22-28395045-C-T c.4602G>A p.M1534I Missense 16/23 - 2
22-28395056-C-G c.4591G>C p.E1531Q Missense 16/23 - 1
22-28395058-TTGG-T c.4586_4588del p.T1529del InFrameDeletion 16/23 - 1
22-28395068-C-T c.4579G>A p.V1527M Missense 16/23 - 1
22-28395081-G-A c.4566C>T p.P1522= Synonymous 16/23 - 1
22-28395081-G-C c.4566C>G p.P1522= Synonymous 16/23 - 1
22-28395081-G-T c.4566C>A p.P1522= Synonymous 16/23 - 1
22-28395091-C-G c.4556G>C p.G1519A Missense 16/23 - 1
22-28395101-C-T c.4546G>A p.E1516K Missense 16/23 - 2
22-28395102-G-A c.4545C>T p.S1515= Synonymous 16/23 - 1
22-28395112-T-C c.4535A>G p.Y1512C Missense 16/23 - 1
22-28395120-T-C c.4527A>G p.E1509= Synonymous 16/23 - 1
22-28395125-C-T c.4522G>A p.E1508K Missense 16/23 - 1
22-28395129-C-T c.4518G>A p.S1506= Synonymous 16/23 - 1
22-28395130-G-A c.4517C>T p.S1506L Missense 16/23 - 1
22-28395142-C-T c.4505G>A p.G1502E Missense 16/23 - 1
22-28395147-CAG-AAA c.4498_4500delinsTTT p.L1500F Missense 16/23 - 1
22-28395149-G-A c.4498C>T p.L1500= Synonymous 16/23 - 1
22-28395151-C-T c.4496G>A p.W1499* Nonsense 16/23 - 1
22-28395159-C-A c.4488G>T p.M1496I Missense 16/23 - 3
22-28395159-C-G c.4488G>C p.M1496I Missense 16/23 - 2
22-28395159-C-T c.4488G>A p.M1496I Missense 16/23 - 2
22-28395164-C-A c.4483G>T p.V1495L Missense 16/23 - 2
22-28395164-C-G c.4483G>C p.V1495L Missense 16/23 - 2
22-28395167-C-T c.4480G>A p.A1494T Missense 16/23 - 1
22-28395170-A-G c.4477T>C p.S1493P Missense 16/23 - 1
22-28395178-T-C c.4469A>G p.K1490R Missense 16/23 - 1
22-28395187-C-T c.4460G>A p.G1487D Missense 16/23 - 1
22-28395189-G-A c.4458C>T p.I1486= Synonymous 16/23 - 2
22-28395192-G-A c.4455C>T p.V1485= Synonymous 16/23 - 2
22-28395192-G-C c.4455C>G p.V1485= Synonymous 16/23 - 3
22-28395192-G-T c.4455C>A p.V1485= Synonymous 16/23 - 2
22-28395203-T-C c.4444A>G p.M1482V Missense 16/23 - 1
22-28395205-G-A c.4442C>T p.S1481F Missense 16/23 - 1
22-28395211-G-T c.4436C>A p.S1479Y Missense 16/23 - 1
22-28395216-G-A c.4431C>T p.S1477= Synonymous 16/23 - 1
22-28395225-G-A c.4422C>T p.P1474= Synonymous 16/23 - 1
22-28395225-G-C c.4422C>G p.P1474= Synonymous 16/23 - 1
22-28395225-G-T c.4422C>A p.P1474= Synonymous 16/23 - 1
22-28395226-G-A c.4421C>T p.P1474L Missense 16/23 - 1
22-28395228-C-A c.4419G>T p.P1473= Synonymous 16/23 - 2
22-28395228-C-G c.4419G>C p.P1473= Synonymous 16/23 - 2
22-28395228-C-T c.4419G>A p.P1473= Synonymous 16/23 - 3
22-28395231-G-C c.4416C>G p.N1472K Missense 16/23 - 2
22-28395231-G-T c.4416C>A p.N1472K Missense 16/23 - 2
22-28395238-C-T c.4409G>A p.R1470Q Missense 16/23 - 2
22-28395242-A-C c.4405T>G p.L1469V Missense 16/23 - 1
22-28395243-G-C c.4404C>G p.H1468Q Missense 16/23 - 1
22-28395243-G-T c.4404C>A p.H1468Q Missense 16/23 - 1
22-28395245-G-A c.4402C>T p.H1468Y Missense 16/23 - 1
22-28395247-G-C c.4400C>G p.S1467C Missense 16/23 - 1
22-28397366-G-A c.4394C>T p.S1465F Missense 15/23 - 1
22-28397366-G-T c.4394C>A p.S1465Y Missense 15/23 - 1
22-28397375-C-T c.4385G>A p.S1462N Missense 15/23 - 1
22-28397377-G-T c.4383C>A p.L1461= Synonymous 15/23 - 1
22-28397379-G-A c.4381C>T p.L1461F Missense 15/23 - 1
22-28397404-G-A c.4356C>T p.L1452= Synonymous 15/23 - 1
22-28397404-G-C c.4356C>G p.L1452= Synonymous 15/23 - 1
22-28397404-G-T c.4356C>A p.L1452= Synonymous 15/23 - 1
22-28397408-C-T c.4352G>A p.G1451D Missense 15/23 - 1
22-28397409-C-T c.4351G>A p.G1451S Missense 15/23 - 2
22-28397410-G-A c.4350C>T p.F1450= Synonymous 15/23 - 3
22-28397419-G-A c.4341C>T p.Y1447= Synonymous 15/23 - 1
22-28397425-G-A c.4335C>T p.Y1445= Synonymous 15/23 - 1
22-28397427-A-T c.4333T>A p.Y1445N Missense 15/23 - 1
22-28397446-C-A c.4314G>T p.K1438N Missense 15/23 - 1
22-28397446-C-G c.4314G>C p.K1438N Missense 15/23 - 1
22-28397457-C-T c.4303G>A p.A1435T Missense 15/23 - 1
22-28397461-A-C c.4299T>G p.P1433= Synonymous 15/23 - 1
22-28397461-A-G c.4299T>C p.P1433= Synonymous 15/23 - 1
22-28397461-A-T c.4299T>A p.P1433= Synonymous 15/23 - 1
22-28397462-G-A c.4298C>T p.P1433L Missense 15/23 - 1
22-28397475-G-A c.4285C>T p.L1429F Missense 15/23 - 1
22-28397476-C-G c.4284G>C p.E1428D Missense 15/23 - 1
22-28397481-C-G c.4279G>C p.G1427R Missense 15/23 - 4
22-28397493-G-A c.4267C>T p.L1423= Synonymous 15/23 - 1
22-28397505-G-A c.4255C>T p.R1419W Missense 15/23 - 1
22-28397509-C-A c.4251G>T p.R1417= Synonymous 15/23 - 1
22-28397509-C-G c.4251G>C p.R1417= Synonymous 15/23 - 1
22-28397509-C-T c.4251G>A p.R1417= Synonymous 15/23 - 1
22-28397511-G-A c.4249C>T p.R1417W Missense 15/23 - 2
22-28397511-G-T c.4249C>A p.R1417= Synonymous 15/23 - 1
22-28397521-G-A c.4239C>T p.G1413= Synonymous 15/23 - 1
22-28397523-C-T c.4237G>A p.G1413S Missense 15/23 - 1
22-28397540-C-T c.4220G>A p.G1407D Missense 15/23 - 1
22-28410237-C-T c.4217G>A p.G1406E Missense 14/23 - 1
22-28410240-T-A c.4214A>T p.E1405V Missense 14/23 - 2
22-28410247-G-C c.4207C>G p.P1403A Missense 14/23 - 2
22-28410249-G-A c.4205C>T p.A1402V Missense 14/23 - 3
22-28410251-G-A c.4203C>T p.I1401= Synonymous 14/23 - 1
22-28410251-G-T c.4203C>A p.I1401= Synonymous 14/23 - 1
22-28410257-C-T c.4197G>A p.L1399= Synonymous 14/23 - 1
22-28410268-G-C c.4186C>G p.L1396V Missense 14/23 - 1
22-28410270-G-A c.4184C>T p.A1395V Missense 14/23 - 1
22-28410275-G-C c.4179C>G p.L1393= Synonymous 14/23 - 1
22-28410280-G-A c.4174C>T p.P1392S Missense 14/23 - 1
22-28410281-G-A c.4173C>T p.P1391= Synonymous 14/23 - 2
22-28410281-G-C c.4173C>G p.P1391= Synonymous 14/23 - 2
22-28410281-G-T c.4173C>A p.P1391= Synonymous 14/23 - 2
22-28410282-G-A c.4172C>T p.P1391L Missense 14/23 - 1
22-28410293-C-A c.4161G>T p.S1387= Synonymous 14/23 - 1
22-28410293-C-G c.4161G>C p.S1387= Synonymous 14/23 - 2
22-28410293-CG-AA c.4160_4161delinsTT p.S1387F Missense 14/23 - 1
22-28410293-C-T c.4161G>A p.S1387= Synonymous 14/23 - 2
22-28410294-G-A c.4160C>T p.S1387L Missense 14/23 - 3
22-28410299-C-T c.4155G>A p.Q1385= Synonymous 14/23 - 1
22-28410305-C-T c.4149G>A p.R1383= Synonymous 14/23 - 1
22-28410306-C-T c.4148G>A p.R1383K Missense 14/23 - 1
22-28410313-G-C c.4141C>G p.L1381V Missense 14/23 - 1
22-28410318-G-A c.4136C>T p.S1379F Missense 14/23 - 1
22-28410318-G-T c.4136C>A p.S1379Y Missense 14/23 - 1
22-28410325-C-T c.4129G>A p.G1377R Missense 14/23 - 1
22-28410326-G-A c.4128C>T p.D1376= Synonymous 14/23 - 1
22-28410336-G-A c.4118C>T p.P1373L Missense 14/23 - 1
22-28410350-A-G c.4104T>C p.S1368= Synonymous 14/23 - 1
22-28410362-CG-GA c.4091_4092delinsTC p.T1364I Missense 14/23 - 1
22-28410363-G-A c.4091C>T p.T1364M Missense 14/23 - 1
22-28410364-T-C c.4090A>G p.T1364A Missense 14/23 - 1
22-28410369-C-T c.4085G>A p.S1362N Missense 14/23 - 1
22-28410373-G-A c.4081C>T p.Q1361* Nonsense 14/23 - 1
22-28422033-C-A c.4073+4181G>T - IntronicSNV - 13/22 1
22-28424786-T-A c.4073+1428A>T - IntronicSNV - 13/22 1
22-28424852-G-A c.4073+1362C>T - IntronicSNV - 13/22 1
22-28424888-G-A c.4073+1326C>T - IntronicSNV - 13/22 1
22-28424932-G-T c.4073+1282C>A - IntronicSNV - 13/22 1
22-28426022-G-C c.4073+192C>G - IntronicSNV - 13/22 1
22-28426128-T-C c.4073+86A>G - IntronicSNV - 13/22 1
22-28426214-CT-TA c.4072_4073delinsTA p.R1358* Nonsense 13/23 - 1
22-28426225-G-A c.4062C>T p.N1354= Synonymous 13/23 - 1
22-28426225-G-T c.4062C>A p.N1354K Missense 13/23 - 1
22-28426232-C-T c.4055G>A p.R1352H Missense 13/23 - 7
22-28426233-G-A c.4054C>T p.R1352C Missense 13/23 - 5
22-28426233-G-T c.4054C>A p.R1352S Missense 13/23 - 1
22-28426234-GCG-CTT c.4051_4053delinsAAG p.R1351K Missense 13/23 - 1
22-28426234-GCG-TCA c.4051_4053delinsTGA p.R1351* Nonsense 13/23 - 1
22-28426236-G-A c.4051C>T p.R1351C Missense 13/23 - 1
22-28426239-C-T c.4048G>A p.V1350I Missense 13/23 - 1
22-28426240-C-A c.4047G>T p.M1349I Missense 13/23 - 2
22-28426240-C-G c.4047G>C p.M1349I Missense 13/23 - 2
22-28426240-C-T c.4047G>A p.M1349I Missense 13/23 - 2
22-28426243-C-T c.4044G>A p.R1348= Synonymous 13/23 - 1
22-28426244-C-A c.4043G>T p.R1348L Missense 13/23 - 1
22-28426244-C-T c.4043G>A p.R1348Q Missense 13/23 - 1
22-28426245-G-A c.4042C>T p.R1348W Missense 13/23 - 1
22-28426260-G-A c.4027C>T p.P1343S Missense 13/23 - 1
22-28426270-C-T c.4017G>A p.S1339= Synonymous 13/23 - 1
22-28426271-G-A c.4016C>T p.S1339L Missense 13/23 - 3
22-28426287-T-C c.4000A>G p.N1334D Missense 13/23 - 1
22-28426293-C-A c.3994G>T p.E1332* Nonsense 13/23 - 1
22-28426293-C-T c.3994G>A p.E1332K Missense 13/23 - 2
22-28426295-T-C c.3992A>G p.E1331G Missense 13/23 - 1
22-28426304-T-G c.3983A>C p.Q1328P Missense 13/23 - 1
22-28426321-C-A c.3966G>T p.A1322= Synonymous 13/23 - 1
22-28426321-C-T c.3966G>A p.A1322= Synonymous 13/23 - 2
22-28426324-T-TTCG c.3962_3963insCGA p.S1320_E1321insD InFrameInsertion 13/23 - 1
22-28426326-C-G c.3961G>C p.E1321Q Missense 13/23 - 1
22-28426328-C-T c.3959G>A p.S1320N Missense 13/23 - 2
22-28426330-C-A c.3957G>T p.E1319D Missense 13/23 - 1
22-28426330-C-G c.3957G>C p.E1319D Missense 13/23 - 1
22-28426338-C-G c.3949G>C p.E1317Q Missense 13/23 - 1
22-28426346-G-C c.3941C>G p.A1314G Missense 13/23 - 1
22-28467583-A-C c.3932+22485T>G - IntronicSNV - 12/22 1
22-28477726-C-T c.3932+12342G>A - IntronicSNV - 12/22 1
22-28480443-C-T c.3932+9625G>A - IntronicSNV - 12/22 1
22-28480815-G-A c.3932+9253C>T - IntronicSNV - 12/22 1
22-28483167-G-T c.3932+6901C>A - IntronicSNV - 12/22 1
22-28487192-C-T c.3932+2876G>A - IntronicSNV - 12/22 1
22-28487474-T-C c.3932+2594A>G - IntronicSNV - 12/22 1
22-28490077-T-C c.3923A>G p.H1308R Missense 12/23 - 1
22-28490087-C-T c.3913G>A p.V1305M Missense 12/23 - 1
22-28490089-CC-GT c.3910_3911delinsAC p.G1304T Missense 12/23 - 1
22-28490089-C-G c.3911G>C p.G1304A Missense 12/23 - 1
22-28490086-AC-A c.3913del p.V1305Wfs*29 Frameshift 12/23 - 3
22-28490095-G-A c.3905C>T p.A1302V Missense 12/23 - 2
22-28490101-C-A c.3899G>T p.R1300L Missense 12/23 - 1
22-28490102-G-A c.3898C>T p.R1300W Missense 12/23 - 1
22-28490107-C-T c.3893G>A p.S1298N Missense 12/23 - 1
22-28490113-A-T c.3887T>A p.I1296N Missense 12/23 - 1
22-28490134-C-G c.3866G>C p.G1289A Missense 12/23 - 1
22-28490146-G-C c.3854C>G p.P1285R Missense 12/23 - 1
22-28490150-G-A c.3850C>T p.L1284F Missense 12/23 - 1
22-28490151-G-A c.3849C>T p.T1283= Synonymous 12/23 - 1
22-28490151-G-C c.3849C>G p.T1283= Synonymous 12/23 - 1
22-28490151-G-T c.3849C>A p.T1283= Synonymous 12/23 - 1
22-28490156-C-T c.3844G>A p.V1282I Missense 12/23 - 1
22-28490166-G-A c.3834C>T p.A1278= Synonymous 12/23 - 1
22-28490170-T-C c.3830A>G p.Q1277R Missense 12/23 - 1
22-28490185-T-G c.3815A>C p.N1272T Missense 12/23 - 1
22-28490189-C-T c.3811G>A p.E1271K Missense 12/23 - 2
22-28490195-T-C c.3805A>G p.T1269A Missense 12/23 - 2
22-28490201-C-A c.3799G>T p.E1267* Nonsense 12/23 - 1
22-28490230-A-G c.3770T>C p.I1257T Missense 12/23 - 1
22-28491371-TA-T c.3766+806del - IntronicDeletion - 11/22 1
22-28491999-G-A c.3766+179C>T - IntronicSNV - 11/22 1
22-28492076-C-A c.3766+102G>T - IntronicSNV - 11/22 1
22-28492150-G-A c.3766+28C>T - IntronicSNV - 11/22 1
22-28492151-C-G c.3766+27G>C - IntronicSNV - 11/22 1
22-28492194-C-A c.3750G>T p.L1250= Synonymous 11/23 - 1
22-28492206-C-A c.3738G>T p.L1246= Synonymous 11/23 - 1
22-28492206-C-G c.3738G>C p.L1246= Synonymous 11/23 - 1
22-28492206-C-T c.3738G>A p.L1246= Synonymous 11/23 - 1
22-28492208-G-A c.3736C>T p.L1246= Synonymous 11/23 - 1
22-28492215-T-C c.3729A>G p.A1243= Synonymous 11/23 - 1
22-28492224-G-A c.3720C>T p.S1240= Synonymous 11/23 - 1
22-28492225-G-A c.3719C>T p.S1240F Missense 11/23 - 2
22-28492237-A-G c.3707T>C p.V1236A Missense 11/23 - 1
22-28492246-CT-TA c.3697_3698delinsTA p.R1233* Nonsense 11/23 - 1
22-28492253-C-G c.3691G>C p.G1231R Missense 11/23 - 1
22-28492260-C-A c.3684G>T p.M1228I Missense 11/23 - 1
22-28492263-C-A c.3681G>T p.E1227D Missense 11/23 - 2
22-28492263-C-G c.3681G>C p.E1227D Missense 11/23 - 1
22-28492274-G-A c.3670C>T p.Q1224* Nonsense 11/23 - 2
22-28492277-C-G c.3667G>C p.D1223H Missense 11/23 - 1
22-28492279-A-T c.3665T>A p.I1222N Missense 11/23 - 1
22-28492291-G-A c.3653C>T p.S1218F Missense 11/23 - 1
22-28492296-G-A c.3648C>T p.P1216= Synonymous 11/23 - 1
22-28492297-G-T c.3647C>A p.P1216H Missense 11/23 - 1
22-28492306-T-C c.3638A>G p.D1213G Missense 11/23 - 1
22-28492310-G-A c.3634C>T p.Q1212* Nonsense 11/23 - 1
22-28492312-T-G c.3632A>C p.Q1211P Missense 11/23 - 1
22-28492324-C-T c.3620G>A p.R1207Q Missense 11/23 - 1
22-28492331-C-A c.3613G>T p.V1205L Missense 11/23 - 1
22-28492331-C-G c.3613G>C p.V1205L Missense 11/23 - 1
22-28492340-C-G c.3604G>C p.D1202H Missense 11/23 - 1
22-28492340-C-T c.3604G>A p.D1202N Missense 11/23 - 1
22-28492361-C-A c.3583G>T p.G1195* Nonsense 11/23 - 2
22-28492362-CCT-ACA c.3580_3582delinsTGT p.R1194C Missense 11/23 - 1
22-28492363-C-T c.3581G>A p.R1194K Missense 11/23 - 1
22-28492363-CT-TG c.3580_3581delinsCA p.R1194Q Missense 11/23 - 1
22-28492370-C-A c.3574G>T p.A1192S Missense 11/23 - 1
22-28492374-A-G c.3570T>C p.A1190= Synonymous 11/23 - 1
22-28492375-G-A c.3569C>T p.A1190V Missense 11/23 - 1
22-28492380-G-A c.3564C>T p.A1188= Synonymous 11/23 - 1
22-28492391-G-A c.3553C>T p.H1185Y Missense 11/23 - 2
22-28494902-C-T c.3547+1G>A - IntronicSNV - 10/22 1
22-28494910-GAC-CAT c.3538_3540delinsATG p.V1180M Missense 10/23 - 1
22-28494912-C-T c.3538G>A p.V1180I Missense 10/23 - 6
22-28494913-G-A c.3537C>T p.L1179= Synonymous 10/23 - 2
22-28494913-G-C c.3537C>G p.L1179= Synonymous 10/23 - 1
22-28494913-G-T c.3537C>A p.L1179= Synonymous 10/23 - 1
22-28494915-G-A c.3535C>T p.L1179F Missense 10/23 - 1
22-28494919-CCG-ACA c.3529_3531delinsTGT p.R1177C Missense 10/23 - 1
22-28494919-C-T c.3531G>A p.R1177= Synonymous 10/23 - 1
22-28494921-G-A c.3529C>T p.R1177W Missense 10/23 - 3
22-28494928-G-A c.3522C>T p.A1174= Synonymous 10/23 - 1
22-28494928-G-C c.3522C>G p.A1174= Synonymous 10/23 - 1
22-28494928-G-T c.3522C>A p.A1174= Synonymous 10/23 - 1
22-28494930-C-T c.3520G>A p.A1174T Missense 10/23 - 1
22-28494939-A-T c.3511T>A p.S1171T Missense 10/23 - 1
22-28494942-A-T c.3508T>A p.S1170T Missense 10/23 - 1
22-28494951-G-A c.3499C>T p.L1167= Synonymous 10/23 - 1
22-28494968-T-G c.3482A>C p.K1161T Missense 10/23 - 1
22-28494971-T-C c.3479A>G p.Y1160C Missense 10/23 - 2
22-28494982-C-A c.3468G>T p.L1156= Synonymous 10/23 - 2
22-28494987-G-C c.3463C>G p.Q1155E Missense 10/23 - 1
22-28494996-G-A c.3454C>T p.H1152Y Missense 10/23 - 1
22-28494998-C-T c.3452G>A p.R1151Q Missense 10/23 - 1
22-28494999-G-A c.3451C>T p.R1151* Nonsense 10/23 - 2
22-28495008-C-T c.3442G>A p.E1148K Missense 10/23 - 1
22-28495024-C-T c.3426G>A p.R1142= Synonymous 10/23 - 1
22-28495026-T-G c.3424A>C p.R1142= Synonymous 10/23 - 1
22-28495028-T-C c.3422A>G p.Y1141C Missense 10/23 - 3
22-28497176-C-T c.3400G>A p.E1134K Missense 9/23 - 1
22-28497180-G-A c.3396C>T p.N1132= Synonymous 9/23 - 1
22-28497187-C-G c.3389G>C p.S1130T Missense 9/23 - 1
22-28497188-T-A c.3388A>T p.S1130C Missense 9/23 - 1
22-28497190-G-A c.3386C>T p.A1129V Missense 9/23 - 1
22-28497196-A-T c.3380T>A p.L1127H Missense 9/23 - 1
22-28497199-GA-AG c.3376_3377delinsCT p.S1126L Missense 9/23 - 1
22-28497216-G-A c.3360C>T p.R1120= Synonymous 9/23 - 1
22-28497217-C-T c.3359G>A p.R1120H Missense 9/23 - 1
22-28497218-G-A c.3358C>T p.R1120C Missense 9/23 - 4
22-28497219-A-G c.3357T>C p.I1119= Synonymous 9/23 - 1
22-28497219-A-T c.3357T>A p.I1119= Synonymous 9/23 - 1
22-28497220-AT-A c.3355del p.I1119Ffs*38 Frameshift 9/23 - 3
22-28497236-C-A c.3340G>T p.E1114* Nonsense 9/23 - 1
22-28497237-T-C c.3339A>G p.R1113= Synonymous 9/23 - 1
22-28497239-T-G c.3337A>C p.R1113= Synonymous 9/23 - 1
22-28497239-T-A c.3337A>T p.R1113* Nonsense 9/23 - 1
22-28497240-TCG-ACA c.3334_3336delinsTGT p.R1112C Missense 9/23 - 1
22-28497241-C-T c.3335G>A p.R1112Q Missense 9/23 - 1
22-28497248-G-A c.3328C>T p.L1110= Synonymous 9/23 - 1
22-28497254-C-A c.3322G>T p.E1108* Nonsense 9/23 - 3
22-28497264-T-A c.3312A>T p.L1104F Missense 9/23 - 1
22-28497264-T-G c.3312A>C p.L1104F Missense 9/23 - 2
22-28497268-C-T c.3308G>A p.G1103D Missense 9/23 - 1
22-28501267-C-T c.3307G>A p.G1103S Missense 8/23 - 1
22-28501278-T-C c.3296A>G p.Y1099C Missense 8/23 - 2
22-28501283-G-A c.3291C>T p.V1097= Synonymous 8/23 - 1
22-28501283-G-C c.3291C>G p.V1097= Synonymous 8/23 - 1
22-28501283-G-T c.3291C>A p.V1097= Synonymous 8/23 - 1
22-28501285-C-G c.3289G>C p.V1097L Missense 8/23 - 1
22-28501314-T-C c.3260A>G p.H1087R Missense 8/23 - 1
22-28501315-G-A c.3259C>T p.H1087Y Missense 8/23 - 1
22-28501324-C-A c.3250G>T p.G1084* Nonsense 8/23 - 1
22-28501328-G-A c.3246C>T p.S1082= Synonymous 8/23 - 1
22-28501332-C-T c.3242G>A p.S1081N Missense 8/23 - 2
22-28501342-C-A c.3232G>T p.V1078L Missense 8/23 - 2
22-28501344-G-A c.3230C>T p.T1077M Missense 8/23 - 6
22-28501346-C-A c.3228G>T p.K1076N Missense 8/23 - 1
22-28501346-C-G c.3228G>C p.K1076N Missense 8/23 - 1
22-28501350-G-A c.3224C>T p.A1075V Missense 8/23 - 1
22-28501351-C-T c.3223G>A p.A1075T Missense 8/23 - 1
22-28501353-G-A c.3221C>T p.A1074V Missense 8/23 - 1
22-28501359-T-A c.3215A>T p.D1072V Missense 8/23 - 1
22-28501367-C-T c.3207G>A p.Q1069= Synonymous 8/23 - 1
22-28501369-G-T c.3205C>A p.Q1069K Missense 8/23 - 1
22-28501374-G-A c.3200C>T p.A1067V Missense 8/23 - 1
22-28501375-C-G c.3199G>C p.A1067P Missense 8/23 - 1
22-28501378-T-C c.3196A>G p.I1066V Missense 8/23 - 1
22-28501385-G-A c.3189C>T p.H1063= Synonymous 8/23 - 1
22-28501394-T-A c.3180A>T p.Q1060H Missense 8/23 - 1
22-28501394-T-G c.3180A>C p.Q1060H Missense 8/23 - 1
22-28501398-T-C c.3176A>G p.Y1059C Missense 8/23 - 1
22-28501401-A-G c.3173T>C p.V1058A Missense 8/23 - 1
22-28501402-C-A c.3172G>T p.V1058F Missense 8/23 - 1
22-28501405-C-T c.3169G>A p.V1057M Missense 8/23 - 2
22-28501408-C-G c.3166G>C p.A1056P Missense 8/23 - 1
22-28501412-C-A c.3162G>T p.E1054D Missense 8/23 - 2
22-28501412-C-G c.3162G>C p.E1054D Missense 8/23 - 3
22-28501412-C-T c.3162G>A p.E1054= Synonymous 8/23 - 1
22-28501414-C-T c.3160G>A p.E1054K Missense 8/23 - 11
22-28501418-G-A c.3156C>T p.T1052= Synonymous 8/23 - 2
22-28501418-GG-CT c.3155_3156delinsAG p.T1052K Missense 8/23 - 1
22-28501419-G-A c.3155C>T p.T1052I Missense 8/23 - 2
22-28501419-G-T c.3155C>A p.T1052N Missense 8/23 - 1
22-28501424-C-T c.3150G>A p.L1050= Synonymous 8/23 - 1
22-28501425-A-T c.3149T>A p.L1050Q Missense 8/23 - 1
22-28501428-G-A c.3146C>T p.S1049F Missense 8/23 - 1
22-28501450-T-C c.3124A>G p.N1042D Missense 8/23 - 2
22-28501453-C-A c.3121G>T p.G1041W Missense 8/23 - 1
22-28501465-C-A c.3109G>T p.G1037C Missense 8/23 - 1
22-28501481-G-A c.3093C>T p.N1031= Synonymous 8/23 - 1
22-28501482-T-C c.3092A>G p.N1031S Missense 8/23 - 1
22-28501499-C-G c.3075G>C p.Q1025H Missense 8/23 - 1
22-28501501-G-T c.3073C>A p.Q1025K Missense 8/23 - 1
22-28501502-T-A c.3072A>T p.L1024= Synonymous 8/23 - 1
22-28501502-T-C c.3072A>G p.L1024= Synonymous 8/23 - 1
22-28501502-T-G c.3072A>C p.L1024= Synonymous 8/23 - 1
22-28501504-G-A c.3070C>T p.L1024= Synonymous 8/23 - 1
22-28501504-G-T c.3070C>A p.L1024I Missense 8/23 - 1
22-28501510-G-A c.3064C>T p.L1022F Missense 8/23 - 1
22-28501512-T-TG c.3061dup p.Q1021Pfs*3 Frameshift 8/23 - 1
22-28501515-T-A c.3059A>T p.H1020L Missense 8/23 - 2
22-28501523-C-A c.3051G>T p.L1017= Synonymous 8/23 - 1
22-28501523-C-G c.3051G>C p.L1017= Synonymous 8/23 - 1
22-28501523-C-T c.3051G>A p.L1017= Synonymous 8/23 - 1
22-28501525-G-A c.3049C>T p.L1017= Synonymous 8/23 - 1
22-28501530-G-A c.3044C>T p.T1015I Missense 8/23 - 1
22-28501552-G-A c.3022C>T p.Q1008* Nonsense 8/23 - 1
22-28501554-T-C c.3020A>G p.Y1007C Missense 8/23 - 1
22-28501558-C-A c.3016G>T p.V1006F Missense 8/23 - 2
22-28501559-GC-G c.3014del p.G1005Afs*22 Frameshift 8/23 - 1
22-28501579-C-A c.2995G>T p.A999S Missense 8/23 - 1
22-28501579-C-T c.2995G>A p.A999T Missense 8/23 - 1
22-28501580-G-A c.2994C>T p.D998= Synonymous 8/23 - 1
22-28501584-C-T c.2990G>A p.S997N Missense 8/23 - 1
22-28501587-T-A c.2987A>T p.E996V Missense 8/23 - 1
22-28501591-G-T c.2983C>A p.L995M Missense 8/23 - 1
22-28501592-G-A c.2982C>T p.A994= Synonymous 8/23 - 2
22-28501593-G-A c.2981C>T p.A994V Missense 8/23 - 1
22-28501596-C-G c.2978G>C p.R993P Missense 8/23 - 1
22-28501596-C-T c.2978G>A p.R993Q Missense 8/23 - 2
22-28501597-G-A c.2977C>T p.R993* Nonsense 8/23 - 1
22-28501597-G-T c.2977C>A p.R993= Synonymous 8/23 - 3
22-28501600-C-G c.2974G>C p.D992H Missense 8/23 - 1
22-28501610-T-C c.2964A>G p.R988= Synonymous 8/23 - 1
22-28501612-T-G c.2962A>C p.R988= Synonymous 8/23 - 1
22-28501615-C-A c.2959G>T p.A987S Missense 8/23 - 1
22-28501625-C-T c.2949G>A p.Q983= Synonymous 8/23 - 1
22-28501628-GCG-CCA c.2944_2946delinsTGG p.R982W Missense 8/23 - 1
22-28501629-C-T c.2945G>A p.R982H Missense 8/23 - 1
22-28501630-G-A c.2944C>T p.R982C Missense 8/23 - 1
22-28501654-C-T c.2920G>A p.E974K Missense 8/23 - 2
22-28501655-G-A c.2919C>T p.Y973= Synonymous 8/23 - 2
22-28501662-C-A c.2912G>T p.G971V Missense 8/23 - 2
22-28501664-T-A c.2910A>T p.L970F Missense 8/23 - 1
22-28501664-T-G c.2910A>C p.L970F Missense 8/23 - 2
22-28501669-G-T c.2905C>A p.Q969K Missense 8/23 - 1
22-28501676-CAG-AAA c.2896_2898delinsTTT p.L966F Missense 8/23 - 1
22-28501678-G-A c.2896C>T p.L966= Synonymous 8/23 - 2
22-28501680-CT-AG c.2893_2894inv p.S965L Missense 8/23 - 1
22-28501683-C-T c.2891G>A p.G964E Missense 8/23 - 1
22-28501696-A-G c.2878T>C p.Y960H Missense 8/23 - 1
22-28501697-G-A c.2877C>T p.A959= Synonymous 8/23 - 1
22-28501697-G-C c.2877C>G p.A959= Synonymous 8/23 - 1
22-28501697-G-T c.2877C>A p.A959= Synonymous 8/23 - 1
22-28501722-C-G c.2852G>C p.G951A Missense 8/23 - 1
22-28501723-C-T c.2851G>A p.G951R Missense 8/23 - 1
22-28501725-A-T c.2849T>A p.L950H Missense 8/23 - 1
22-28501740-A-G c.2834T>C p.V945A Missense 8/23 - 1
22-28501745-C-T c.2829G>A p.R943= Synonymous 8/23 - 1
22-28501747-T-G c.2827A>C p.R943= Synonymous 8/23 - 1
22-28501749-T-C c.2825A>G p.K942R Missense 8/23 - 1
22-28501753-C-G c.2821G>C p.E941Q Missense 8/23 - 1
22-28501759-A-G c.2815T>C p.C939R Missense 8/23 - 2
22-28501768-C-T c.2806G>A p.A936T Missense 8/23 - 1
22-28501780-T-C c.2794A>G p.S932G Missense 8/23 - 1
22-28503054-G-A c.2779C>T p.H927Y Missense 7/23 - 1
22-28503055-T-A c.2778A>T p.G926= Synonymous 7/23 - 1
22-28503055-T-C c.2778A>G p.G926= Synonymous 7/23 - 1
22-28503055-T-G c.2778A>C p.G926= Synonymous 7/23 - 1
22-28503056-C-A c.2777G>T p.G926V Missense 7/23 - 1
22-28503057-C-G c.2776G>C p.G926R Missense 7/23 - 1
22-28503057-C-T c.2776G>A p.G926R Missense 7/23 - 1
22-28503058-A-G c.2775T>C p.N925= Synonymous 7/23 - 1
22-28503069-C-A c.2764G>T p.G922C Missense 7/23 - 1
22-28503069-C-T c.2764G>A p.G922S Missense 7/23 - 1
22-28503098-C-A c.2735G>T p.R912L Missense 7/23 - 1
22-28503098-C-T c.2735G>A p.R912H Missense 7/23 - 3
22-28503109-C-A c.2724G>T p.Q908H Missense 7/23 - 2
22-28503109-C-G c.2724G>C p.Q908H Missense 7/23 - 2
22-28503113-G-A c.2720C>T p.A907V Missense 7/23 - 6
22-28503114-C-T c.2719G>A p.A907T Missense 7/23 - 3
22-28503115-G-A c.2718C>T p.V906= Synonymous 7/23 - 1
22-28503115-G-C c.2718C>G p.V906= Synonymous 7/23 - 1
22-28503115-G-T c.2718C>A p.V906= Synonymous 7/23 - 1
22-28503119-G-C c.2714C>G p.S905C Missense 7/23 - 1
22-28503132-C-G c.2701G>C p.E901Q Missense 7/23 - 1
22-28503148-T-C c.2685A>G p.E895= Synonymous 7/23 - 1
22-28503153-C-G c.2680G>C p.E894Q Missense 7/23 - 1
22-28503163-C-A c.2670G>T p.L890= Synonymous 7/23 - 1
22-28503167-G-A c.2666C>T p.A889V Missense 7/23 - 1
22-28503171-C-A c.2662G>T p.E888* Nonsense 7/23 - 1
22-28503171-C-T c.2662G>A p.E888K Missense 7/23 - 2
22-28503172-G-A c.2661C>T p.Y887= Synonymous 7/23 - 3
22-28503181-C-A c.2652G>T p.G884= Synonymous 7/23 - 1
22-28503181-CCC-GCT c.2650_2652delinsAGC p.G884S Missense 7/23 - 1
22-28503181-C-T c.2652G>A p.G884= Synonymous 7/23 - 1
22-28503184-C-A c.2649G>T p.L883= Synonymous 7/23 - 1
22-28503184-C-G c.2649G>C p.L883= Synonymous 7/23 - 1
22-28503184-C-T c.2649G>A p.L883= Synonymous 7/23 - 1
22-28503186-G-A c.2647C>T p.L883= Synonymous 7/23 - 1
22-28503194-T-C c.2639A>G p.Y880C Missense 7/23 - 2
22-28503198-C-A c.2635G>T p.A879S Missense 7/23 - 1
22-28503200-C-T c.2633G>A p.R878Q Missense 7/23 - 4
22-28503206-C-A c.2627G>T p.R876M Missense 7/23 - 1
22-28503207-T-A c.2626A>T p.R876W Missense 7/23 - 1
22-28503210-C-T c.2623G>A p.D875N Missense 7/23 - 7
22-28503218-G-T c.2615C>A p.S872Y Missense 7/23 - 1
22-28503235-C-T c.2598G>A p.Q866= Synonymous 7/23 - 3
22-28503240-G-A c.2593C>T p.Q865* Nonsense 7/23 - 1
22-28503240-G-C c.2593C>G p.Q865E Missense 7/23 - 1
22-28503240-G-T c.2593C>A p.Q865K Missense 7/23 - 1
22-28503265-G-T c.2568C>A p.Y856* Nonsense 7/23 - 1
22-28503273-T-C c.2560A>G p.I854V Missense 7/23 - 1
22-28503276-C-A c.2557G>T p.A853S Missense 7/23 - 2
22-28503280-T-C c.2553A>G p.E851= Synonymous 7/23 - 1
22-28503310-GC-CT c.2522_2523delinsAG p.G841E Missense 7/23 - 1
22-28503315-T-C c.2518A>G p.M840V Missense 7/23 - 2
22-28503316-G-C c.2517C>G p.N839K Missense 7/23 - 1
22-28503316-G-T c.2517C>A p.N839K Missense 7/23 - 1
22-28503317-T-C c.2516A>G p.N839S Missense 7/23 - 1
22-28503323-T-C c.2510A>G p.Y837C Missense 7/23 - 2
22-28503336-C-T c.2497G>A p.E833K Missense 7/23 - 1
22-28503337-C-T c.2496G>A p.L832= Synonymous 7/23 - 2
22-28503341-CT-AA c.2491_2492delinsTT p.S831F Missense 7/23 - 1
22-28503344-G-A c.2489C>T p.P830L Missense 7/23 - 1
22-28503353-A-C c.2480T>G p.L827R Missense 7/23 - 1
22-28503361-C-T c.2472G>A p.G824= Synonymous 7/23 - 1
22-28503363-C-T c.2470G>A p.G824R Missense 7/23 - 1
22-28503364-TA-AT c.2468_2469delinsAT p.L823H Missense 7/23 - 1
22-28503369-C-G c.2464G>C p.D822H Missense 7/23 - 1
22-28503369-C-T c.2464G>A p.D822N Missense 7/23 - 2
22-28503382-A-G c.2451T>C p.Y817= Synonymous 7/23 - 2
22-28503396-C-T c.2437G>A p.A813T Missense 7/23 - 2
22-28503404-T-C c.2429A>G p.Y810C Missense 7/23 - 1
22-28503413-A-G c.2420T>C p.L807P Missense 7/23 - 1
22-28503415-G-A c.2418C>T p.A806= Synonymous 7/23 - 1
22-28503421-G-A c.2412C>T p.Y804= Synonymous 7/23 - 1
22-28503422-T-C c.2411A>G p.Y804C Missense 7/23 - 2
22-28503432-C-T c.2401G>A p.A801T Missense 7/23 - 1
22-28503452-CA-GT c.2380_2381delinsAC p.C794T Missense 7/23 - 1
22-28503456-C-T c.2377G>A p.E793K Missense 7/23 - 1
22-28503463-C-A c.2370G>T p.L790F Missense 7/23 - 1
22-28503463-C-G c.2370G>C p.L790F Missense 7/23 - 1
22-28503468-C-A c.2365G>T p.D789Y Missense 7/23 - 2
22-28503480-G-A c.2353C>T p.Q785* Nonsense 7/23 - 2
22-28503487-C-T c.2346G>A p.E782= Synonymous 7/23 - 2
22-28503489-C-G c.2344G>C p.E782Q Missense 7/23 - 1
22-28503515-G-T c.2318C>A p.A773D Missense 7/23 - 1
22-28503527-T-C c.2306A>G p.K769R Missense 7/23 - 2
22-28503533-GA-G c.2300del p.I767Tfs*21 Frameshift 7/23 - 1
22-28503537-T-A c.2296A>T p.M766L Missense 7/23 - 1
22-28503537-T-G c.2296A>C p.M766L Missense 7/23 - 1
22-28503539-C-T c.2294G>A p.R765Q Missense 7/23 - 3
22-28503540-G-A c.2293C>T p.R765* Nonsense 7/23 - 3
22-28503550-G-A c.2283C>T p.G761= Synonymous 7/23 - 1
22-28503550-G-C c.2283C>G p.G761= Synonymous 7/23 - 1
22-28503550-G-T c.2283C>A p.G761= Synonymous 7/23 - 1
22-28503553-C-T c.2280G>A p.L760= Synonymous 7/23 - 1
22-28503565-T-A c.2268A>T p.A756= Synonymous 7/23 - 1
22-28503565-T-C c.2268A>G p.A756= Synonymous 7/23 - 1
22-28503565-T-G c.2268A>C p.A756= Synonymous 7/23 - 1
22-28503567-C-T c.2266G>A p.A756T Missense 7/23 - 1
22-28503576-C-T c.2257G>A p.E753K Missense 7/23 - 1
22-28503580-T-C c.2253A>G p.R751= Synonymous 7/23 - 1
22-28503582-T-G c.2251A>C p.R751= Synonymous 7/23 - 1
22-28503585-T-C c.2248A>G p.R750G Missense 7/23 - 1
22-28503585-T-G c.2248A>C p.R750= Synonymous 7/23 - 1
22-28503599-T-C c.2234A>G p.H745R Missense 7/23 - 1
22-28503600-G-GTC c.2232_2233insGA p.H745Dfs*4 Frameshift 7/23 - 1
22-28503608-C-G c.2225G>C p.G742A Missense 7/23 - 1
22-28503613-T-C c.2220A>G p.Q740= Synonymous 7/23 - 2
22-28503619-C-T c.2214G>A p.E738= Synonymous 7/23 - 1
22-28503625-G-T c.2208C>A p.F736L Missense 7/23 - 2
22-28503625-G-C c.2208C>G p.F736L Missense 7/23 - 1
22-28503627-A-G c.2206T>C p.F736L Missense 7/23 - 1
22-28503644-A-C c.2189T>G p.I730R Missense 7/23 - 3
22-28503648-C-T c.2185G>A p.D729N Missense 7/23 - 1
22-28503652-T-A c.2181A>T p.K727N Missense 7/23 - 1
22-28503652-T-G c.2181A>C p.K727N Missense 7/23 - 1
22-28503653-T-A c.2180A>T p.K727I Missense 7/23 - 1
22-28503648-C-CT c.2184dup p.D729Rfs*10 Frameshift 7/23 - 2
22-28503648-CT-C c.2184del p.D729Ifs*2 Frameshift 7/23 - 1
22-28503660-T-G c.2173A>C p.I725L Missense 7/23 - 1
22-28503669-C-T c.2164G>A p.D722N Missense 7/23 - 3
22-28503670-G-A c.2163C>T p.G721= Synonymous 7/23 - 1
22-28503670-G-C c.2163C>G p.G721= Synonymous 7/23 - 1
22-28503670-G-T c.2163C>A p.G721= Synonymous 7/23 - 1
22-28503673-C-A c.2160G>T p.L720= Synonymous 7/23 - 1
22-28503673-C-G c.2160G>C p.L720= Synonymous 7/23 - 1
22-28503673-C-T c.2160G>A p.L720= Synonymous 7/23 - 1
22-28503675-G-A c.2158C>T p.L720= Synonymous 7/23 - 1
22-28503680-C-T c.2153G>A p.G718E Missense 7/23 - 1
22-28503683-A-T c.2150T>A p.L717Q Missense 7/23 - 1
22-28503690-G-A c.2143C>T p.R715* Nonsense 7/23 - 4
22-28503691-A-T c.2142T>A p.F714L Missense 7/23 - 1
22-28503693-A-C c.2140T>G p.F714V Missense 7/23 - 1
22-28503694-T-C c.2139A>G p.K713= Synonymous 7/23 - 1
22-28503701-T-C c.2132A>G p.Q711R Missense 7/23 - 1
22-28503713-A-G c.2120T>C p.L707P Missense 7/23 - 1
22-28503714-G-T c.2119C>A p.L707M Missense 7/23 - 1
22-28503718-C-A c.2115G>T p.Q705H Missense 7/23 - 1
22-28503725-A-T c.2108T>A p.L703Q Missense 7/23 - 1
22-28503726-G-A c.2107C>T p.L703= Synonymous 7/23 - 1
22-28503728-G-A c.2105C>T p.S702F Missense 7/23 - 1
22-28503744-G-A c.2089C>T p.Q697* Nonsense 7/23 - 2
22-28503748-C-T c.2085G>A p.E695= Synonymous 7/23 - 1
22-28503770-A-T c.2063T>A p.L688Q Missense 7/23 - 2
22-28503779-T-G c.2054A>C p.K685T Missense 7/23 - 1
22-28503812-G-C c.2021C>G p.A674G Missense 7/23 - 1
22-28503815-T-C c.2018A>G p.Q673R Missense 7/23 - 1
22-28503818-C-G c.2015G>C p.S672T Missense 7/23 - 1
22-28503821-A-G c.2012T>C p.L671S Missense 7/23 - 1
22-28503823-C-A c.2010G>T p.K670N Missense 7/23 - 1
22-28503823-C-G c.2010G>C p.K670N Missense 7/23 - 1
22-28503831-G-A c.2002C>T p.H668Y Missense 7/23 - 1
22-28503836-T-C c.1997A>G p.D666G Missense 7/23 - 1
22-28503842-G-A c.1991C>T p.A664V Missense 7/23 - 1
22-28503856-CCTG-C c.1975_1977del p.Q659del InFrameDeletion 7/23 - 1
22-28503859-GTTC-G c.1972_1974del p.E658del InFrameDeletion 7/23 - 1
22-28503861-C-T c.1972G>A p.E658K Missense 7/23 - 1
22-28503862-G-A c.1971C>T p.Y657= Synonymous 7/23 - 4
22-28503862-G-GT c.1970dup p.Y657* Nonsense 7/23 - 1
22-28503865-G-C c.1968C>G p.Y656* Nonsense 7/23 - 3
22-28503865-G-T c.1968C>A p.Y656* Nonsense 7/23 - 3
22-28503874-T-A c.1959A>T p.A653= Synonymous 7/23 - 1
22-28503874-T-C c.1959A>G p.A653= Synonymous 7/23 - 1
22-28503874-T-G c.1959A>C p.A653= Synonymous 7/23 - 1
22-28503882-G-C c.1951C>G p.Q651E Missense 7/23 - 6
22-28503886-G-C c.1947C>G p.N649K Missense 7/23 - 1
22-28503892-A-C c.1941T>G p.L647= Synonymous 7/23 - 1
22-28503892-A-G c.1941T>C p.L647= Synonymous 7/23 - 1
22-28503892-A-T c.1941T>A p.L647= Synonymous 7/23 - 1
22-28503895-G-A c.1938C>T p.C646= Synonymous 7/23 - 1
22-28503896-CA-GC c.1936_1937delinsGC p.C646A Missense 7/23 - 1
22-28503919-G-A c.1914C>T p.H638= Synonymous 7/23 - 2
22-28503927-C-G c.1906G>C p.V636L Missense 7/23 - 1
22-28503927-C-T c.1906G>A p.V636I Missense 7/23 - 2
22-28503928-C-A c.1905G>T p.K635N Missense 7/23 - 1
22-28503928-C-G c.1905G>C p.K635N Missense 7/23 - 2
22-28503938-C-T c.1895G>A p.G632E Missense 7/23 - 1
22-28503939-C-T c.1894G>A p.G632R Missense 7/23 - 1
22-28503948-C-T c.1885G>A p.D629N Missense 7/23 - 1
22-28503952-A-G c.1881T>C p.L627= Synonymous 7/23 - 1
22-28503957-C-G c.1876G>C p.D626H Missense 7/23 - 1
22-28503963-C-G c.1870G>C p.A624P Missense 7/23 - 1
22-28503967-C-T c.1866G>A p.R622= Synonymous 7/23 - 1
22-28503969-G-A c.1864C>T p.R622W Missense 7/23 - 1
22-28503978-G-A c.1855C>T p.Q619* Nonsense 7/23 - 1
22-28503981-C-G c.1852G>C p.E618Q Missense 7/23 - 1
22-28503989-G-A c.1844C>T p.P615L Missense 7/23 - 1
22-28503990-G-A c.1843C>T p.P615S Missense 7/23 - 1
22-28504002-C-T c.1831G>A p.V611I Missense 7/23 - 1
22-28504013-C-T c.1820G>A p.R607Q Missense 7/23 - 1
22-28504014-G-A c.1819C>T p.R607W Missense 7/23 - 2
22-28504024-G-A c.1809C>T p.F603= Synonymous 7/23 - 3
22-28504025-A-C c.1808T>G p.F603C Missense 7/23 - 1
22-28504040-C-T c.1793G>A p.S598N Missense 7/23 - 1
22-28504042-G-A c.1791C>T p.L597= Synonymous 7/23 - 1
22-28504047-C-T c.1786G>A p.A596T Missense 7/23 - 1
22-28504049-C-A c.1784G>T p.R595L Missense 7/23 - 1
22-28504049-C-T c.1784G>A p.R595Q Missense 7/23 - 1
22-28504050-G-A c.1783C>T p.R595W Missense 7/23 - 1
22-28504053-C-A c.1780G>T p.A594S Missense 7/23 - 1
22-28504056-C-T c.1777G>A p.E593K Missense 7/23 - 4
22-28504078-C-T c.1755G>A p.R585= Synonymous 7/23 - 1
22-28504079-C-T c.1754G>A p.R585Q Missense 7/23 - 1
22-28504082-G-C c.1751C>G p.A584G Missense 7/23 - 1
22-28504083-C-T c.1750G>A p.A584T Missense 7/23 - 1
22-28504084-G-A c.1749C>T p.I583= Synonymous 7/23 - 1
22-28504095-G-A c.1738C>T p.H580Y Missense 7/23 - 2
22-28504111-C-T c.1722G>A p.L574= Synonymous 7/23 - 1
22-28504122-C-G c.1711G>C p.D571H Missense 7/23 - 1
22-28504122-C-T c.1711G>A p.D571N Missense 7/23 - 1
22-28504127-G-A c.1706C>T p.A569V Missense 7/23 - 3
22-28504129-A-T c.1704T>A p.G568= Synonymous 7/23 - 1
22-28504136-G-T c.1697C>A p.A566D Missense 7/23 - 1
22-28504142-T-C c.1691A>G p.Y564C Missense 7/23 - 1
22-28504149-C-T c.1684G>A p.V562M Missense 7/23 - 2
22-28504150-G-A c.1683C>T p.A561= Synonymous 7/23 - 3
22-28504150-G-C c.1683C>G p.A561= Synonymous 7/23 - 1
22-28504150-G-T c.1683C>A p.A561= Synonymous 7/23 - 1
22-28504151-G-A c.1682C>T p.A561V Missense 7/23 - 1
22-28504156-G-C c.1677C>G p.N559K Missense 7/23 - 1
22-28504156-G-T c.1677C>A p.N559K Missense 7/23 - 1
22-28504173-C-A c.1660G>T p.A554S Missense 7/23 - 1
22-28504174-C-A c.1659G>T p.Q553H Missense 7/23 - 1
22-28504177-T-A c.1656A>T p.S552= Synonymous 7/23 - 1
22-28504183-G-A c.1650C>T p.R550= Synonymous 7/23 - 3
22-28504183-G-C c.1650C>G p.R550= Synonymous 7/23 - 1
22-28504183-G-T c.1650C>A p.R550= Synonymous 7/23 - 1
22-28504184-C-T c.1649G>A p.R550H Missense 7/23 - 1
22-28504185-G-A c.1648C>T p.R550C Missense 7/23 - 2
22-28504194-C-A c.1639G>T p.V547L Missense 7/23 - 1
22-28504194-C-G c.1639G>C p.V547L Missense 7/23 - 1
22-28504197-C-T c.1636G>A p.E546K Missense 7/23 - 1
22-28504202-G-A c.1631C>T p.S544F Missense 7/23 - 1
22-28504202-GA-CG c.1630_1631delinsCG p.S544R Missense 7/23 - 1
22-28504210-C-G c.1623G>C p.L541= Synonymous 7/23 - 1
22-28504220-C-A c.1613G>T p.R538L Missense 7/23 - 1
22-28504220-C-T c.1613G>A p.R538Q Missense 7/23 - 1
22-28504219-C-A c.1614G>T p.R538= Synonymous 7/23 - 1
22-28504219-C-G c.1614G>C p.R538= Synonymous 7/23 - 1
22-28504219-C-T c.1614G>A p.R538= Synonymous 7/23 - 1
22-28504221-G-A c.1612C>T p.R538W Missense 7/23 - 4
22-28504221-G-T c.1612C>A p.R538= Synonymous 7/23 - 1
22-28504223-T-A c.1610A>T p.H537L Missense 7/23 - 1
22-28504223-T-C c.1610A>G p.H537R Missense 7/23 - 1
22-28504231-G-C c.1602C>G p.V534= Synonymous 7/23 - 1
22-28504235-G-A c.1598C>T p.A533V Missense 7/23 - 4
22-28504235-G-T c.1598C>A p.A533E Missense 7/23 - 1
22-28504241-T-C c.1592A>G p.D531G Missense 7/23 - 2
22-28504242-C-T c.1591G>A p.D531N Missense 7/23 - 1
22-28504249-GC-G c.1583del p.G528Afs*20 Frameshift 7/23 - 1
22-28504258-A-G c.1575T>C p.N525= Synonymous 7/23 - 2
22-28504266-C-T c.1567G>A p.A523T Missense 7/23 - 1
22-28504279-CCC-GCT c.1552_1554delinsAGC p.G518S Missense 7/23 - 1
22-28504279-C-G c.1554G>C p.G518= Synonymous 7/23 - 1
22-28504283-T-G c.1550A>C p.Y517S Missense 7/23 - 1
22-28504286-G-A c.1547C>T p.A516V Missense 7/23 - 1
22-28504290-G-A c.1543C>T p.R515C Missense 7/23 - 1
22-28504298-G-A c.1535C>T p.A512V Missense 7/23 - 1
22-28504317-C-T c.1516G>A p.E506K Missense 7/23 - 1
22-28504326-T-C c.1507A>G p.I503V Missense 7/23 - 1
22-28504338-T-C c.1495A>G p.T499A Missense 7/23 - 1
22-28504339-C-A c.1494G>T p.K498N Missense 7/23 - 1
22-28504339-C-G c.1494G>C p.K498N Missense 7/23 - 1
22-28504352-A-G c.1481T>C p.L494P Missense 7/23 - 1
22-28504355-G-A c.1478C>T p.A493V Missense 7/23 - 1
22-28504358-G-T c.1475C>A p.T492N Missense 7/23 - 3
22-28504361-T-C c.1472A>G p.D491G Missense 7/23 - 1
22-28504372-T-A c.1461A>T p.K487N Missense 7/23 - 1
22-28504372-T-G c.1461A>C p.K487N Missense 7/23 - 1
22-28504375-C-A c.1458G>T p.M486I Missense 7/23 - 1
22-28504375-C-G c.1458G>C p.M486I Missense 7/23 - 1
22-28504375-C-T c.1458G>A p.M486I Missense 7/23 - 1
22-28504378-C-G c.1455G>C p.Q485H Missense 7/23 - 1
22-28504380-G-T c.1453C>A p.Q485K Missense 7/23 - 1
22-28504386-T-G c.1447A>C p.I483L Missense 7/23 - 1
22-28504389-T-C c.1444A>G p.I482V Missense 7/23 - 1
22-28504389-T-G c.1444A>C p.I482L Missense 7/23 - 1
22-28536819-G-C c.1441+22261C>G - IntronicSNV - 6/22 1
22-28539292-C-A c.1441+19788G>T - IntronicSNV - 6/22 1
22-28542349-C-A c.1441+16731G>T - IntronicSNV - 6/22 1
22-28546862-ACCAAAGT-A c.1441+12212_1441+12218del - IntronicDeletion - 6/22 1
22-28546870-GGCAGTACCCCCAGGAAGTAGTGCCCACCTAGGTCTAGGAAAACAAAATTGTGTTCAGAA-G c.1441+12152_1441+12210del - IntronicDeletion - 6/22 1
22-28547996-G-A c.1441+11084C>T - IntronicSNV - 6/22 1
22-28554018-CA-C c.1441+5061del - IntronicDeletion - 6/22 1
22-28555433-G-A c.1441+3647C>T - IntronicSNV - 6/22 1
22-28559072-G-A c.1441+8C>T - IntronicSNV - 6/22 1
22-28559083-G-A c.1438C>T p.L480= Synonymous 6/23 - 1
22-28559088-G-A c.1433C>T p.S478F Missense 6/23 - 1
22-28559088-GA-AG c.1432_1433delinsCT p.S478L Missense 6/23 - 1
22-28559102-C-T c.1419G>A p.E473= Synonymous 6/23 - 3
22-28559106-G-A c.1415C>T p.A472V Missense 6/23 - 1
22-28559109-G-A c.1412C>T p.A471V Missense 6/23 - 1
22-28559111-CCG-ACA c.1408_1410delinsTGT p.R470C Missense 6/23 - 1
22-28559112-C-T c.1409G>A p.R470Q Missense 6/23 - 2
22-28559113-G-A c.1408C>T p.R470W Missense 6/23 - 1
22-28559114-G-A c.1407C>T p.D469= Synonymous 6/23 - 1
22-28559117-C-T c.1404G>A p.K468= Synonymous 6/23 - 1
22-28559120-G-A c.1401C>T p.L467= Synonymous 6/23 - 1
22-28559120-G-C c.1401C>G p.L467= Synonymous 6/23 - 12
22-28559120-G-T c.1401C>A p.L467= Synonymous 6/23 - 1
22-28559131-C-T c.1390G>A p.A464T Missense 6/23 - 1
22-28559137-C-T c.1384G>A p.G462S Missense 6/23 - 1
22-28559149-C-T c.1372G>A p.E458K Missense 6/23 - 1
22-28559149-C-CA c.1371dup p.E458* Nonsense 6/23 - 1
22-28559154-T-A c.1367A>T p.Y456F Missense 6/23 - 1
22-28559161-T-C c.1360A>G p.K454E Missense 6/23 - 1
22-28559162-A-G c.1359T>C p.A453= Synonymous 6/23 - 1
22-28559163-G-T c.1358C>A p.A453D Missense 6/23 - 3
22-28559168-C-A c.1353G>T p.E451D Missense 6/23 - 1
22-28559168-C-G c.1353G>C p.E451D Missense 6/23 - 1
22-28559176-C-A c.1345G>T p.D449Y Missense 6/23 - 1
22-28559181-A-G c.1340T>C p.M447T Missense 6/23 - 1
22-28559184-C-A c.1337G>T p.C446F Missense 6/23 - 1
22-28559184-C-T c.1337G>A p.C446Y Missense 6/23 - 1
22-28559186-CCT-ATG c.1333_1335delinsCAT p.R445H Missense 6/23 - 1
22-28559186-C-T c.1335G>A p.R445= Synonymous 6/23 - 1
22-28559187-C-T c.1334G>A p.R445K Missense 6/23 - 1
22-28559188-T-A c.1333A>T p.R445W Missense 6/23 - 1
22-28559191-C-T c.1330G>A p.A444T Missense 6/23 - 1
22-28559198-GC-CT c.1322_1323delinsAG p.G441E Missense 6/23 - 1
22-28559205-C-T c.1316G>A p.G439E Missense 6/23 - 1
22-28559217-C-G c.1304G>C p.R435P Missense 6/23 - 2
22-28559218-G-A c.1303C>T p.R435W Missense 6/23 - 2
22-28559219-C-T c.1302G>A p.M434I Missense 6/23 - 1
22-28559227-T-C c.1294A>G p.I432V Missense 6/23 - 1
22-28559228-A-C c.1293T>G p.A431= Synonymous 6/23 - 1
22-28559229-G-T c.1292C>A p.A431D Missense 6/23 - 1
22-28559236-C-A c.1285G>T p.E429* Nonsense 6/23 - 1
22-28559236-C-T c.1285G>A p.E429K Missense 6/23 - 2
22-28559246-C-A c.1275G>T p.Q425H Missense 6/23 - 2
22-28559246-C-G c.1275G>C p.Q425H Missense 6/23 - 2
22-28559256-T-A c.1265A>T p.E422V Missense 6/23 - 1
22-28559263-C-T c.1258G>A p.V420I Missense 6/23 - 1
22-28559265-T-C c.1256A>G p.Y419C Missense 6/23 - 1
22-28559266-A-G c.1255T>C p.Y419H Missense 6/23 - 1
22-28559270-A-G c.1251T>C p.H417= Synonymous 6/23 - 1
22-28559272-G-T c.1249C>A p.H417N Missense 6/23 - 1
22-28559274-T-C c.1247A>G p.Y416C Missense 6/23 - 1
22-28559294-G-C c.1227C>G p.N409K Missense 6/23 - 1
22-28559297-CCT-ATG c.1222_1224delinsCAT p.R408H Missense 6/23 - 1
22-28559299-T-A c.1222A>T p.R408W Missense 6/23 - 1
22-28559299-T-TA c.1221_1222insT p.R408* Nonsense 6/23 - 1
22-28559310-T-A c.1211A>T p.Y404F Missense 6/23 - 1
22-28559313-G-A c.1208C>T p.A403V Missense 6/23 - 2
22-28559313-G-T c.1208C>A p.A403D Missense 6/23 - 1
22-28559319-C-G c.1202G>C p.G401A Missense 6/23 - 1
22-28559319-C-T c.1202G>A p.G401D Missense 6/23 - 2
22-28559320-C-A c.1201G>T p.G401C Missense 6/23 - 1
22-28559321-C-A c.1200G>T p.L400= Synonymous 6/23 - 1
22-28559325-T-C c.1196A>G p.N399S Missense 6/23 - 1
22-28559327-G-A c.1194C>T p.S398= Synonymous 6/23 - 1
22-28559336-CC-AT c.1184_1185delinsAT p.R395H Missense 6/23 - 1
22-28559336-CCG-ACA c.1183_1185delinsTGT p.R395C Missense 6/23 - 1
22-28559337-C-A c.1184G>T p.R395L Missense 6/23 - 1
22-28559337-C-T c.1184G>A p.R395Q Missense 6/23 - 2
22-28559338-G-A c.1183C>T p.R395W Missense 6/23 - 1
22-28559340-G-A c.1181C>T p.A394V Missense 6/23 - 1
22-28559341-C-T c.1180G>A p.A394T Missense 6/23 - 1
22-28559340-G-GC c.1180dup p.A394Gfs*5 Frameshift 6/23 - 1
22-28559344-C-T c.1177G>A p.E393K Missense 6/23 - 3
22-28559347-C-T c.1174G>A p.E392K Missense 6/23 - 3
22-28559350-G-A c.1171C>T p.R391* Nonsense 6/23 - 1
22-28559350-G-C c.1171C>G p.R391G Missense 6/23 - 1
22-28559355-T-C c.1166A>G p.N389S Missense 6/23 - 1
22-28559356-T-C c.1165A>G p.N389D Missense 6/23 - 1
22-28559358-C-T c.1163G>A p.G388E Missense 6/23 - 2
22-28559360-C-A c.1161G>T p.L387= Synonymous 6/23 - 1
22-28559360-C-G c.1161G>C p.L387= Synonymous 6/23 - 1
22-28559360-C-T c.1161G>A p.L387= Synonymous 6/23 - 1
22-28559362-G-A c.1159C>T p.L387= Synonymous 6/23 - 2
22-28559370-G-A c.1151C>T p.A384V Missense 6/23 - 1
22-28559376-T-A c.1145A>T p.K382M Missense 6/23 - 3
22-28559391-T-C c.1130A>G p.H377R Missense 6/23 - 1
22-28559401-C-T c.1120G>A p.V374M Missense 6/23 - 1
22-28559404-C-G c.1117G>C p.A373P Missense 6/23 - 1
22-28559408-C-A c.1113G>T p.E371D Missense 6/23 - 1
22-28559412-A-T c.1109T>A p.F370Y Missense 6/23 - 1
22-28559411-A-C c.1110T>G p.F370L Missense 6/23 - 1
22-28559411-A-T c.1110T>A p.F370L Missense 6/23 - 1
22-28559413-A-G c.1108T>C p.F370L Missense 6/23 - 1
22-28559416-C-T c.1105G>A p.D369N Missense 6/23 - 1
22-28559427-A-G c.1094T>C p.I365T Missense 6/23 - 1
22-28559432-C-A c.1089G>T p.V363= Synonymous 6/23 - 2
22-28559432-C-G c.1089G>C p.V363= Synonymous 6/23 - 2
22-28559432-C-T c.1089G>A p.V363= Synonymous 6/23 - 2
22-28559452-G-A c.1069C>T p.L357F Missense 6/23 - 1
22-28559456-TCG-CCA c.1063_1065delinsTGG p.R355W Missense 6/23 - 1
22-28559464-C-T c.1057G>A p.E353K Missense 6/23 - 2
22-28559466-G-A c.1055C>T p.S352F Missense 6/23 - 2
22-28559466-GA-CC c.1054_1055delinsGG p.S352G Missense 6/23 - 1
22-28559479-T-C c.1042A>G p.K348E Missense 6/23 - 1
22-28559483-T-G c.1038A>C p.Q346H Missense 6/23 - 1
22-28559486-C-T c.1035G>A p.K345= Synonymous 6/23 - 2
22-28559490-G-A c.1031C>T p.A344V Missense 6/23 - 6
22-28559491-C-T c.1030G>A p.A344T Missense 6/23 - 1
22-28559494-G-A c.1027C>T p.L343F Missense 6/23 - 3
22-28559497-G-C c.1024C>G p.L342V Missense 6/23 - 1
22-28559500-C-T c.1021G>A p.V341I Missense 6/23 - 1
22-28559501-A-T c.1020T>A p.C340* Nonsense 6/23 - 1
22-28559502-CA-GT c.1018_1019delinsAC p.C340T Missense 6/23 - 1
22-28559504-C-A c.1017G>T p.Q339H Missense 6/23 - 1
22-28559504-C-G c.1017G>C p.Q339H Missense 6/23 - 1
22-28559511-T-C c.1010A>G p.H337R Missense 6/23 - 1
22-28559517-G-T c.1004C>A p.A335D Missense 6/23 - 1
22-28559519-C-A c.1002G>T p.L334= Synonymous 6/23 - 1
22-28559519-C-G c.1002G>C p.L334= Synonymous 6/23 - 1
22-28559519-C-T c.1002G>A p.L334= Synonymous 6/23 - 1
22-28559521-G-A c.1000C>T p.L334= Synonymous 6/23 - 2
22-28559523-G-A c.998C>T p.A333V Missense 6/23 - 1
22-28559526-T-C c.995A>G p.N332S Missense 6/23 - 3
22-28559531-G-A c.990C>T p.Y330= Synonymous 6/23 - 1
22-28559531-G-T c.990C>A p.Y330* Nonsense 6/23 - 1
22-28559536-C-T c.985G>A p.D329N Missense 6/23 - 2
22-28559542-T-C c.979A>G p.I327V Missense 6/23 - 1
22-28559554-C-T c.967G>A p.V323M Missense 6/23 - 1
22-28559555-G-C c.966C>G p.H322Q Missense 6/23 - 1
22-28559555-G-T c.966C>A p.H322Q Missense 6/23 - 1
22-28559566-T-A c.955A>T p.S319C Missense 6/23 - 1
22-28559580-G-A c.941C>T p.S314L Missense 6/23 - 2
22-28626168-C-A c.933+66018G>T - IntronicSNV - 5/22 1
22-28634642-G-T c.933+57544C>A - IntronicSNV - 5/22 1
22-28634863-C-T c.933+57323G>A - IntronicSNV - 5/22 1
22-28639399-CT-C c.933+52786del - IntronicDeletion - 5/22 1
22-28640764-T-A c.933+51422A>T - IntronicSNV - 5/22 1
22-28650480-CA-C c.933+41705del - IntronicDeletion - 5/22 1
22-28655411-G-T c.933+36775C>A - IntronicSNV - 5/22 1
22-28656438-GA-G c.933+35747del - IntronicDeletion - 5/22 1
22-28667528-G-A c.933+24658C>T - IntronicSNV - 5/22 1
22-28671680-AT-A c.933+20505del - IntronicDeletion - 5/22 1
22-28686150-C-T c.933+6036G>A - IntronicSNV - 5/22 1
22-28686185-T-C c.933+6001A>G - IntronicSNV - 5/22 1
22-28692052-G-GT c.933+133dup - IntronicInsertion - 5/22 1
22-28692174-T-C c.933+12A>G - IntronicSNV - 5/22 1
22-28692180-TCCTA-T c.933+2_933+5del - IntronicDeletion 5/23 5/22 1
22-28692188-C-T c.931G>A p.E311K Missense 5/23 - 1
22-28692190-C-T c.929G>A p.R310Q Missense 5/23 - 2
22-28692191-G-A c.928C>T p.R310* Nonsense 5/23 - 1
22-28692191-G-C c.928C>G p.R310G Missense 5/23 - 1
22-28692194-C-G c.925G>C p.D309H Missense 5/23 - 2
22-28692194-C-T c.925G>A p.D309N Missense 5/23 - 2
22-28692196-T-C c.923A>G p.K308R Missense 5/23 - 1
22-28692203-T-G c.916A>C p.K306Q Missense 5/23 - 2
22-28692204-C-G c.915G>C p.M305I Missense 5/23 - 1
22-28692208-G-A c.911C>T p.A304V Missense 5/23 - 1
22-28692209-C-T c.910G>A p.A304T Missense 5/23 - 1
22-28692217-AA-GG c.901_902delinsCC p.L301P Missense 5/23 - 1
22-28692221-G-A c.898C>T p.Q300* Nonsense 5/23 - 1
22-28692225-CCT-ACA c.892_894delinsTGT p.R298C Missense 5/23 - 1
22-28692226-C-T c.893G>A p.R298K Missense 5/23 - 2
22-28692228-G-A c.891C>T p.H297= Synonymous 5/23 - 1
22-28692234-A-C c.885T>G p.T295= Synonymous 5/23 - 1
22-28692234-A-G c.885T>C p.T295= Synonymous 5/23 - 1
22-28692234-A-T c.885T>A p.T295= Synonymous 5/23 - 1
22-28692235-G-C c.884C>G p.T295S Missense 5/23 - 1
22-28692236-T-A c.883A>T p.T295S Missense 5/23 - 1
22-28692238-A-G c.881T>C p.L294P Missense 5/23 - 1
22-28692241-G-A c.878C>T p.A293V Missense 5/23 - 1
22-28692247-CG-TT c.871_872delinsAA p.R291K Missense 5/23 - 1
22-28692247-C-T c.872G>A p.R291Q Missense 5/23 - 1
22-28692252-A-C c.867T>G p.N289K Missense 5/23 - 1
22-28692252-AT-A c.866del p.N289Ifs*17 Frameshift 5/23 - 1
22-28692256-C-T c.863G>A p.G288E Missense 5/23 - 1
22-28692257-C-T c.862G>A p.G288R Missense 5/23 - 1
22-28692259-T-C c.860A>G p.K287R Missense 5/23 - 3
22-28692262-G-A c.857C>T p.S286F Missense 5/23 - 1
22-28692262-G-C c.857C>G p.S286C Missense 5/23 - 1
22-28692264-G-T c.855C>A p.F285L Missense 5/23 - 1
22-28692271-G-A c.848C>T p.A283V Missense 5/23 - 1
22-28692274-G-T c.845C>A p.S282Y Missense 5/23 - 1
22-28692275-A-T c.844T>A p.S282T Missense 5/23 - 1
22-28692285-C-T c.834G>A p.G278= Synonymous 5/23 - 1
22-28692290-G-A c.829C>T p.H277Y Missense 5/23 - 1
22-28692292-G-A c.827C>T p.A276V Missense 5/23 - 1
22-28692295-C-A c.824G>T p.R275L Missense 5/23 - 1
22-28692297-G-A c.822C>T p.C274= Synonymous 5/23 - 1
22-28692302-C-T c.817G>A p.E273K Missense 5/23 - 1
22-28692306-T-A c.813A>T p.T271= Synonymous 5/23 - 1
22-28692306-T-C c.813A>G p.T271= Synonymous 5/23 - 1
22-28692306-T-G c.813A>C p.T271= Synonymous 5/23 - 1
22-28692312-G-A c.807C>T p.D269= Synonymous 5/23 - 1
22-28692316-C-T c.803G>A p.G268D Missense 5/23 - 1
22-28693472-G-A c.802+96C>T - IntronicSNV - 4/22 1
22-28693496-T-C c.802+72A>G - IntronicSNV - 4/22 1
22-28693566-A-G c.802+2T>C - IntronicSNV - 4/22 1
22-28693570-A-C c.800T>G p.L267* Nonsense 4/23 - 1
22-28693570-A-G c.800T>C p.L267S Missense 4/23 - 1
22-28693570-A-T c.800T>A p.L267* Nonsense 4/23 - 2
22-28693574-T-C c.796A>G p.T266A Missense 4/23 - 1
22-28693576-T-G c.794A>C p.K265T Missense 4/23 - 1
22-28693580-C-A c.790G>T p.A264S Missense 4/23 - 1
22-28693593-C-T c.777G>A p.Q259= Synonymous 4/23 - 1
22-28693599-C-A c.771G>T p.M257I Missense 4/23 - 1
22-28693599-C-G c.771G>C p.M257I Missense 4/23 - 1
22-28693599-C-T c.771G>A p.M257I Missense 4/23 - 1
22-28693607-C-T c.763G>A p.G255R Missense 4/23 - 1
22-28693611-GCT-TCA c.757_759delinsTGA p.S253* Nonsense 4/23 - 1
22-28693612-C-T c.758G>A p.S253N Missense 4/23 - 1
22-28693617-C-T c.753G>A p.E251= Synonymous 4/23 - 1
22-28693631-AG-A c.739del p.G248Efs*16 Frameshift 4/23 - 1
22-28693645-C-T c.725G>A p.S242N Missense 4/23 - 1
22-28693648-CT-AA c.721_722delinsTT p.S241F Missense 4/23 - 1
22-28693653-G-A c.717C>T p.A239= Synonymous 4/23 - 1
22-28693653-G-C c.717C>G p.A239= Synonymous 4/23 - 1
22-28693653-G-T c.717C>A p.A239= Synonymous 4/23 - 1
22-28693666-G-A c.704C>T p.S235F Missense 4/23 - 1
22-28693668-A-C c.702T>G p.G234= Synonymous 4/23 - 1
22-28693668-A-G c.702T>C p.G234= Synonymous 4/23 - 1
22-28693668-A-T c.702T>A p.G234= Synonymous 4/23 - 1
22-28693672-CT-TG c.697_698delinsCA p.R233Q Missense 4/23 - 1
22-28693684-C-A c.686G>T p.S229I Missense 4/23 - 1
22-28693689-G-A c.681C>T p.T227= Synonymous 4/23 - 1
22-28693689-G-C c.681C>G p.T227= Synonymous 4/23 - 1
22-28693689-G-T c.681C>A p.T227= Synonymous 4/23 - 2
22-28693690-G-A c.680C>T p.T227I Missense 4/23 - 1
22-28693691-T-C c.679A>G p.T227A Missense 4/23 - 1
22-28693693-C-G c.677G>C p.G226A Missense 4/23 - 1
22-28693703-G-T c.667C>A p.L223M Missense 4/23 - 1
22-28693706-C-T c.664G>A p.A222T Missense 4/23 - 2
22-28693719-AAC-CAT c.649_651delinsATG p.V217M Missense 4/23 - 1
22-28693727-A-C c.643T>G p.S215A Missense 4/23 - 1
22-28693730-C-T c.640G>A p.A214T Missense 4/23 - 1
22-28693732-C-G c.638G>C p.G213A Missense 4/23 - 1
22-28693741-C-T c.629G>A p.G210D Missense 4/23 - 1
22-28693743-A-C c.627T>G p.A209= Synonymous 4/23 - 2
22-28693743-A-G c.627T>C p.A209= Synonymous 4/23 - 2
22-28693743-A-T c.627T>A p.A209= Synonymous 4/23 - 2
22-28693762-C-T c.608G>A p.G203E Missense 4/23 - 2
22-28693765-A-G c.605T>C p.V202A Missense 4/23 - 2
22-28693769-C-A c.601G>T p.V201L Missense 4/23 - 2
22-28693769-C-T c.601G>A p.V201M Missense 4/23 - 1
22-28693773-C-A c.597G>T p.V199= Synonymous 4/23 - 1
22-28693773-C-G c.597G>C p.V199= Synonymous 4/23 - 1
22-28693773-C-T c.597G>A p.V199= Synonymous 4/23 - 1
22-28693778-C-T c.592G>A p.V198I Missense 4/23 - 1
22-28693782-A-G c.588T>C p.F196= Synonymous 4/23 - 1
22-28693790-T-C c.580A>G p.S194G Missense 4/23 - 1
22-28693795-GT-G c.575del p.D192Afs*16 Frameshift 4/23 - 1
22-28693797-C-A c.573G>T p.L191= Synonymous 4/23 - 1
22-28693797-C-G c.573G>C p.L191= Synonymous 4/23 - 1
22-28693797-C-T c.573G>A p.L191= Synonymous 4/23 - 1
22-28693799-G-A c.571C>T p.L191= Synonymous 4/23 - 1
22-28693815-C-A c.555G>T p.Q185H Missense 4/23 - 2
22-28693815-C-G c.555G>C p.Q185H Missense 4/23 - 3
22-28693816-T-A c.554A>T p.Q185L Missense 4/23 - 1
22-28693820-G-A c.550C>T p.Q184* Nonsense 4/23 - 4
22-28693821-A-G c.549T>C p.Y183= Synonymous 4/23 - 2
22-28693822-AT-A c.548del p.Y183Ffs*7 Frameshift 4/23 - 1
22-28693824-A-C c.546T>G p.T182= Synonymous 4/23 - 1
22-28693824-A-G c.546T>C p.T182= Synonymous 4/23 - 1
22-28693824-A-T c.546T>A p.T182= Synonymous 4/23 - 1
22-28693828-G-A c.542C>T p.P181L Missense 4/23 - 1
22-28693832-C-T c.538G>A p.E180K Missense 4/23 - 1
22-28693839-G-A c.531C>T p.D177= Synonymous 4/23 - 1
22-28702481-T-C c.529+3A>G - IntronicSNV - 3/22 1
22-28702484-C-T c.529G>A p.D177N Missense 3/23 - 1
22-28702485-TCT-ACA c.526_528delinsTGT p.R176C Missense 3/23 - 1
22-28702485-TCT-CCA c.526_528delinsTGG p.R176W Missense 3/23 - 1
22-28702487-T-C c.526A>G p.R176G Missense 3/23 - 1
22-28702490-T-C c.523A>G p.M175V Missense 3/23 - 1
22-28702491-G-A c.522C>T p.P174= Synonymous 3/23 - 1
22-28702495-G-A c.518C>T p.S173F Missense 3/23 - 1
22-28702519-C-T c.494G>A p.G165E Missense 3/23 - 1
22-28702520-C-A c.493G>T p.G165W Missense 3/23 - 1
22-28702522-A-C c.491T>G p.V164G Missense 3/23 - 1
22-28702524-C-A c.489G>T p.L163= Synonymous 3/23 - 1
22-28702524-C-G c.489G>C p.L163= Synonymous 3/23 - 1
22-28702524-C-T c.489G>A p.L163= Synonymous 3/23 - 1
22-28702526-G-A c.487C>T p.L163= Synonymous 3/23 - 1
22-28702530-C-T c.483G>A p.Q161= Synonymous 3/23 - 1
22-28702532-G-C c.481C>G p.Q161E Missense 3/23 - 1
22-28702537-CT-AA c.475_476delinsTT p.S159F Missense 3/23 - 1
22-28702540-T-C c.473A>G p.K158R Missense 3/23 - 2
22-28702550-G-A c.463C>T p.Q155* Nonsense 3/23 - 1
22-28702551-AG-CT c.461_462inv p.A154E Missense 3/23 - 1
22-28702553-C-T c.460G>A p.A154T Missense 3/23 - 1
22-28702565-C-T c.448G>A p.A150T Missense 3/23 - 1
22-28702573-G-T c.440C>A p.A147E Missense 3/23 - 1
22-28702574-C-G c.439G>C p.A147P Missense 3/23 - 1
22-28702579-G-C c.434C>G p.A145G Missense 3/23 - 1
22-28702581-A-C c.432T>G p.D144E Missense 3/23 - 1
22-28702581-A-T c.432T>A p.D144E Missense 3/23 - 1
22-28702585-G-A c.428C>T p.A143V Missense 3/23 - 1
22-28702591-C-T c.422G>A p.R141H Missense 3/23 - 1
22-28702597-A-C c.416T>G p.L139R Missense 3/23 - 1
22-28702604-G-A c.409C>T p.Q137* Nonsense 3/23 - 2
22-28702620-TC-AT c.392_393delinsAT p.R131H Missense 3/23 - 4
22-28702620-TCG-GCT c.391_393delinsAGC p.R131S Missense 3/23 - 1
22-28702621-C-T c.392G>A p.R131Q Missense 3/23 - 1
22-28702622-G-A c.391C>T p.R131* Nonsense 3/23 - 4
22-28702622-GGAA-G c.388_390del p.F130del InFrameDeletion 3/23 - 1
22-28702630-G-A c.383C>T p.A128V Missense 3/23 - 1
22-28702630-G-C c.383C>G p.A128G Missense 3/23 - 1
22-28875328-T-C c.381+150212A>G - IntronicSNV - 2/22 1
22-28875469-G-C c.381+150071C>G - IntronicSNV - 2/22 1
22-28881615-GA-G c.381+143924del - IntronicDeletion - 2/22 1
22-28889343-CA-C c.381+136196del - IntronicDeletion - 2/22 1
22-28900780-TA-T c.381+124759del - IntronicDeletion - 2/22 1
22-28910624-C-G c.381+114916G>C - IntronicSNV - 2/22 1
22-28910643-T-C c.381+114897A>G - IntronicSNV - 2/22 1
22-28912747-TA-T c.381+112792del - IntronicDeletion - 2/22 1
22-28932611-CA-C c.381+92928del - IntronicDeletion - 2/22 1
22-28937905-TA-T c.381+87634del - IntronicDeletion - 2/22 1
22-28952346-CA-C c.381+73193del - IntronicDeletion - 2/22 1
22-28954719-TAAAGA-T c.381+70816_381+70820del - IntronicDeletion - 2/22 1
22-28968868-G-A c.381+56672C>T - IntronicSNV - 2/22 1
22-28978687-G-A c.381+46853C>T - IntronicSNV - 2/22 1
22-28979972-GT-G c.381+45567del - IntronicDeletion - 2/22 1
22-28994295-G-A c.381+31245C>T - IntronicSNV - 2/22 1
22-28994302-T-G c.381+31238A>C - IntronicSNV - 2/22 1
22-28994411-G-C c.381+31129C>G - IntronicSNV - 2/22 1
22-28994414-G-T c.381+31126C>A - IntronicSNV - 2/22 1
22-28998014-G-A c.381+27526C>T - IntronicSNV - 2/22 1
22-29017574-TA-T c.381+7965del - IntronicDeletion - 2/22 1
22-29020774-GA-G c.381+4765del - IntronicDeletion - 2/22 1
22-29025540-C-A c.381G>T p.K127N Missense 2/23 - 3
22-29025540-C-G c.381G>C p.K127N Missense 2/23 - 2
22-29025548-A-G c.373T>C p.W125R Missense 2/23 - 1
22-29025548-A-T c.373T>A p.W125R Missense 2/23 - 1
22-29025550-T-G c.371A>C p.K124T Missense 2/23 - 2
22-29025552-G-A c.369C>T p.P123= Synonymous 2/23 - 1
22-29025554-G-A c.367C>T p.P123S Missense 2/23 - 1
22-29025560-G-A c.361C>T p.L121F Missense 2/23 - 1
22-29025562-A-T c.359T>A p.L120H Missense 2/23 - 1
22-29025563-G-A c.358C>T p.L120F Missense 2/23 - 1
22-29025587-G-A c.334C>T p.L112= Synonymous 2/23 - 1
22-29025589-G-A c.332C>T p.A111V Missense 2/23 - 1
22-29025601-T-A c.320A>T p.Q107L Missense 2/23 - 1
22-29025610-T-G c.311A>C p.K104T Missense 2/23 - 1
22-29025614-T-A c.307A>T p.M103L Missense 2/23 - 1
22-29025614-T-G c.307A>C p.M103L Missense 2/23 - 1
22-29025615-G-A c.306C>T p.Y102= Synonymous 2/23 - 1
22-29025622-G-A c.299C>T p.A100V Missense 2/23 - 1
22-29025627-T-C c.294A>G p.R98= Synonymous 2/23 - 2
22-29025629-T-G c.292A>C p.R98= Synonymous 2/23 - 1
22-29025631-T-C c.290A>G p.N97S Missense 2/23 - 1
22-29025633-G-C c.288C>G p.S96R Missense 2/23 - 1
22-29025633-G-T c.288C>A p.S96R Missense 2/23 - 1
22-29025635-T-G c.286A>C p.S96R Missense 2/23 - 1
22-29025635-T-C c.286A>G p.S96G Missense 2/23 - 2
22-29025637-T-G c.284A>C p.Y95S Missense 2/23 - 2
22-29025648-G-A c.273C>T p.N91= Synonymous 2/23 - 1
22-29025651-C-G c.270G>C p.Q90H Missense 2/23 - 1
22-29025659-C-T c.262G>A p.D88N Missense 2/23 - 1
22-29025662-C-T c.259G>A p.V87I Missense 2/23 - 1
22-29025666-CAG-AAA c.253_255delinsTTT p.L85F Missense 2/23 - 1
22-29025669-GGC-CCA c.250_252delinsTGG p.A84W Missense 2/23 - 1
22-29025669-GGC-TTA c.250_252delinsTAA p.A84* Nonsense 2/23 - 1
22-29025670-GC-TA c.250_251delinsTA p.A84Y Missense 2/23 - 1
22-29025671-C-G c.250G>C p.A84P Missense 2/23 - 1
22-29025683-G-A c.238C>T p.L80= Synonymous 2/23 - 1
22-29025694-G-A c.227C>T p.T76I Missense 2/23 - 1
22-29025704-C-T c.217G>A p.D73N Missense 2/23 - 1
22-29025706-C-A c.215G>T p.G72V Missense 2/23 - 1
22-29025718-G-C c.203C>G p.A68G Missense 2/23 - 1
22-29025720-C-A c.201G>T p.Q67H Missense 2/23 - 1
22-29025720-C-G c.201G>C p.Q67H Missense 2/23 - 1
22-29025722-G-T c.199C>A p.Q67K Missense 2/23 - 6
22-29025727-CT-AA c.193_194delinsTT p.S65F Missense 2/23 - 1
22-29025729-C-A c.192G>T p.Q64H Missense 2/23 - 2
22-29025729-C-G c.192G>C p.Q64H Missense 2/23 - 2
22-29025731-G-C c.190C>G p.Q64E Missense 2/23 - 1
22-29025733-C-T c.188G>A p.R63H Missense 2/23 - 1
22-29025734-G-A c.187C>T p.R63C Missense 2/23 - 2
22-29025739-T-G c.182A>C p.K61T Missense 2/23 - 1
22-29025741-C-T c.180G>A p.E60= Synonymous 2/23 - 1
22-29025743-C-A c.178G>T p.E60* Nonsense 2/23 - 1
22-29025743-C-T c.178G>A p.E60K Missense 2/23 - 3
22-29025744-A-C c.177T>G p.V59= Synonymous 2/23 - 1
22-29025744-A-G c.177T>C p.V59= Synonymous 2/23 - 1
22-29025744-A-T c.177T>A p.V59= Synonymous 2/23 - 1
22-29025750-T-C c.171A>G p.E57= Synonymous 2/23 - 1
22-29025752-C-T c.169G>A p.E57K Missense 2/23 - 1
22-29025753-AGC-TTG c.166_168delinsCAA p.A56Q Missense 2/23 - 1
22-29025755-C-G c.166G>C p.A56P Missense 2/23 - 1
22-29025769-G-A c.152C>T p.P51L Missense 2/23 - 1
22-29025770-G-A c.151C>T p.P51S Missense 2/23 - 2
22-29025772-C-G c.149G>C p.G50A Missense 2/23 - 1
22-29025780-A-G c.141T>C p.S47= Synonymous 2/23 - 1
22-29025784-C-A c.137G>T p.R46I Missense 2/23 - 1
22-29025788-G-A c.133C>T p.Q45* Nonsense 2/23 - 1
22-29025791-C-T c.130G>A p.G44S Missense 2/23 - 1
22-29025795-A-C c.126T>G p.T42= Synonymous 2/23 - 1
22-29025795-A-G c.126T>C p.T42= Synonymous 2/23 - 1
22-29025795-A-T c.126T>A p.T42= Synonymous 2/23 - 1
22-29025798-G-A c.123C>T p.D41= Synonymous 2/23 - 1
22-29025802-G-A c.119C>T p.A40V Missense 2/23 - 1
22-29025804-A-C c.117T>G p.G39= Synonymous 2/23 - 1
22-29025804-A-G c.117T>C p.G39= Synonymous 2/23 - 1
22-29025804-A-T c.117T>A p.G39= Synonymous 2/23 - 1
22-29025810-G-A c.111C>T p.L37= Synonymous 2/23 - 1
22-29025813-A-C c.108T>G p.P36= Synonymous 2/23 - 1
22-29025813-A-G c.108T>C p.P36= Synonymous 2/23 - 1
22-29025813-A-T c.108T>A p.P36= Synonymous 2/23 - 1
22-29025814-G-C c.107C>G p.P36R Missense 2/23 - 1
22-29053003-C-T c.102+22607G>A - IntronicSNV - 1/22 2
22-29053823-C-T c.102+21787G>A - IntronicSNV - 1/22 1
22-29057895-TA-T c.102+17714del - IntronicDeletion - 1/22 1
22-29065934-A-AT c.102+9675dup - IntronicInsertion - 1/22 1
22-29069357-CA-C c.102+6252del - IntronicDeletion - 1/22 1
22-29072566-G-C c.102+3044C>G - IntronicSNV - 1/22 1
22-29075601-C-G c.102+9G>C - IntronicSNV - 1/22 1
22-29075604-A-C c.102+6T>G - IntronicSNV - 1/22 1
22-29075612-G-A c.100C>T p.P34S Missense 1/23 - 1
22-29075616-C-A c.96G>T p.S32= Synonymous 1/23 - 1
22-29075616-C-G c.96G>C p.S32= Synonymous 1/23 - 1
22-29075616-C-T c.96G>A p.S32= Synonymous 1/23 - 1
22-29075617-G-A c.95C>T p.S32L Missense 1/23 - 1
22-29075622-C-A c.90G>T p.P30= Synonymous 1/23 - 2
22-29075622-C-G c.90G>C p.P30= Synonymous 1/23 - 1
22-29075622-C-T c.90G>A p.P30= Synonymous 1/23 - 3
22-29075627-G-C c.85C>G p.P29A Missense 1/23 - 1
22-29075628-C-A c.84G>T p.S28= Synonymous 1/23 - 2
22-29075628-C-G c.84G>C p.S28= Synonymous 1/23 - 2
22-29075628-C-T c.84G>A p.S28= Synonymous 1/23 - 2
22-29075634-T-A c.78A>T p.P26= Synonymous 1/23 - 1
22-29075634-T-C c.78A>G p.P26= Synonymous 1/23 - 1
22-29075634-T-G c.78A>C p.P26= Synonymous 1/23 - 5
22-29075636-G-T c.76C>A p.P26T Missense 1/23 - 10
22-29075639-C-A c.73G>T p.E25* Nonsense 1/23 - 1
22-29075639-C-T c.73G>A p.E25K Missense 1/23 - 1
22-29075641-C-T c.71G>A p.R24Q Missense 1/23 - 1
22-29075649-T-C c.63A>G p.R21= Synonymous 1/23 - 1
22-29075651-G-A c.61C>T p.R21* Nonsense 1/23 - 11
22-29075653-CT-AG c.58_59inv p.S20L Missense 1/23 - 1
22-29075658-TGC-ATG c.52_54delinsCAT p.A18H Missense 1/23 - 1
22-29075659-G-C c.53C>G p.A18G Missense 1/23 - 5
22-29075659-GC-AG c.52_53delinsCT p.A18L Missense 1/23 - 1
22-29075659-GC-AT c.52_53delinsAT p.A18I Missense 1/23 - 1
22-29075659-GC-CT c.52_53delinsAG p.A18R Missense 1/23 - 1
22-29075659-GC-TG c.52_53delinsCA p.A18Q Missense 1/23 - 1
22-29075659-GC-TT c.52_53delinsAA p.A18K Missense 1/23 - 1
22-29075660-C-G c.52G>C p.A18P Missense 1/23 - 2
22-29075660-C-T c.52G>A p.A18T Missense 1/23 - 3
22-29075662-G-A c.50C>T p.P17L Missense 1/23 - 1
22-29075674-TG-T c.37del p.Q13Kfs*41 Frameshift 1/23 - 1
22-29075678-T-C c.34A>G p.T12A Missense 1/23 - 4
22-29075680-G-A c.32C>T p.P11L Missense 1/23 - 1
22-29075684-C-T c.28G>A p.E10K Missense 1/23 - 1
22-29075685-G-A c.27C>T p.P9= Synonymous 1/23 - 1
22-29075690-C-G c.22G>C p.A8P Missense 1/23 - 1
22-29075700-C-T c.12G>A p.S4= Synonymous 1/23 - 1
22-29075701-G-C c.11C>G p.S4W Missense 1/23 - 2
22-29075706-C-T c.6G>A p.E2= Synonymous 1/23 - 1
22-29075709-C-T c.3G>A p.M1? Missense 1/23 - 1