CREBBP CREB binding protein

Annotation transcript: NM_004380.3

1533 unique variant annotations were identified in 617 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
16-3775169-G-A c.*2550C>T - 3-UTRSNV 31/31 - 2
16-3775227-G-A c.*2492C>T - 3-UTRSNV 31/31 - 1
16-3775227-G-T c.*2492C>A - 3-UTRSNV 31/31 - 1
16-3777112-T-C c.*607A>G - 3-UTRSNV 31/31 - 1
16-3777730-C-T c.7318G>A p.E2440K Missense 31/31 - 1
16-3777742-C-T c.7306G>A p.E2436K Missense 31/31 - 1
16-3777745-G-A c.7303C>T p.L2435= Synonymous 31/31 - 1
16-3777763-C-CA c.7284_7285insT p.D2429* Nonsense 31/31 - 1
16-3777768-A-T c.7280T>A p.V2427D Missense 31/31 - 1
16-3777767-GACC-G c.7278_7280del p.V2427del InFrameDeletion 31/31 - 1
16-3777769-C-A c.7279G>T p.V2427F Missense 31/31 - 1
16-3777781-C-T c.7267G>A p.E2423K Missense 31/31 - 1
16-3777783-C-T c.7265G>A p.S2422N Missense 31/31 - 1
16-3777789-A-T c.7259T>A p.L2420Q Missense 31/31 - 1
16-3777792-G-A c.7256C>T p.A2419V Missense 31/31 - 2
16-3777797-C-A c.7251G>T p.R2417S Missense 31/31 - 1
16-3777808-T-C c.7240A>G p.T2414A Missense 31/31 - 1
16-3777816-T-C c.7232A>G p.Q2411R Missense 31/31 - 1
16-3777817-G-A c.7231C>T p.Q2411* Nonsense 31/31 - 1
16-3777817-GGGGGA-G c.7226_7230del p.L2409Pfs*36 Frameshift 31/31 - 1
16-3777820-G-C c.7228C>G p.P2410A Missense 31/31 - 1
16-3777822-A-G c.7226T>C p.L2409P Missense 31/31 - 1
16-3777826-T-C c.7222A>G p.M2408V Missense 31/31 - 1
16-3777829-C-CA c.7218dup p.A2407Cfs*40 Frameshift 31/31 - 1
16-3777833-C-A c.7215G>T p.Q2405H Missense 31/31 - 1
16-3777833-C-G c.7215G>C p.Q2405H Missense 31/31 - 1
16-3777843-T-A c.7205A>T p.N2402I Missense 31/31 - 1
16-3777856-C-G c.7192G>C p.G2398R Missense 31/31 - 1
16-3777862-C-T c.7186G>A p.D2396N Missense 31/31 - 1
16-3777874-C-T c.7174G>A p.A2392T Missense 31/31 - 1
16-3777879-G-T c.7169C>A p.T2390N Missense 31/31 - 2
16-3777882-A-T c.7166T>A p.V2389D Missense 31/31 - 1
16-3777883-C-A c.7165G>T p.V2389F Missense 31/31 - 2
16-3777883-C-T c.7165G>A p.V2389I Missense 31/31 - 1
16-3777891-C-T c.7157G>A p.G2386E Missense 31/31 - 1
16-3777897-T-G c.7151A>C p.H2384P Missense 31/31 - 2
16-3777898-G-T c.7150C>A p.H2384N Missense 31/31 - 1
16-3777900-G-A c.7148C>T p.P2383L Missense 31/31 - 1
16-3777901-G-A c.7147C>T p.P2383S Missense 31/31 - 1
16-3777897-TG-T c.7150del p.H2384Tfs*12 Frameshift 31/31 - 1
16-3777903-G-A c.7145C>T p.S2382F Missense 31/31 - 1
16-3777903-G-C c.7145C>G p.S2382C Missense 31/31 - 2
16-3777907-C-A c.7141G>T p.G2381C Missense 31/31 - 1
16-3777909-G-C c.7139C>G p.T2380S Missense 31/31 - 1
16-3777910-T-A c.7138A>T p.T2380S Missense 31/31 - 1
16-3777915-G-A c.7133C>T p.P2378L Missense 31/31 - 1
16-3777952-G-A c.7096C>T p.R2366W Missense 31/31 - 2
16-3777963-C-A c.7085G>T p.S2362I Missense 31/31 - 1
16-3777963-C-T c.7085G>A p.S2362N Missense 31/31 - 1
16-3777966-G-A c.7082C>T p.S2361F Missense 31/31 - 1
16-3777966-G-C c.7082C>G p.S2361C Missense 31/31 - 1
16-3777969-TGTGGAGGCTGGGACTGGGGCC-T c.7058_7078del p.R2353_P2359del InFrameDeletion 31/31 - 1
16-3777990-C-T c.7058G>A p.R2353Q Missense 31/31 - 2
16-3777991-G-A c.7057C>T p.R2353W Missense 31/31 - 1
16-3778005-G-A c.7043C>T p.P2348L Missense 31/31 - 1
16-3778010-TG-T c.7037del p.P2346Qfs*50 Frameshift 31/31 - 1
16-3778018-G-A c.7030C>T p.R2344W Missense 31/31 - 1
16-3778038-G-A c.7010C>T p.T2337M Missense 31/31 - 1
16-3778038-G-C c.7010C>G p.T2337R Missense 31/31 - 1
16-3778042-C-T c.7006G>A p.A2336T Missense 31/31 - 1
16-3778048-G-A c.7000C>T p.Q2334* Nonsense 31/31 - 2
16-3778063-G-A c.6985C>T p.H2329Y Missense 31/31 - 1
16-3778065-G-A c.6983C>T p.S2328L Missense 31/31 - 1
16-3778072-G-C c.6976C>G p.Q2326E Missense 31/31 - 1
16-3778074-G-A c.6974C>T p.P2325L Missense 31/31 - 1
16-3778083-G-A c.6965C>T p.S2322L Missense 31/31 - 1
16-3778095-T-G c.6953A>C p.Q2318P Missense 31/31 - 1
16-3778106-C-A c.6942G>T p.M2314I Missense 31/31 - 1
16-3778106-C-G c.6942G>C p.M2314I Missense 31/31 - 1
16-3778106-C-T c.6942G>A p.M2314I Missense 31/31 - 1
16-3778108-T-A c.6940A>T p.M2314L Missense 31/31 - 1
16-3778108-T-G c.6940A>C p.M2314L Missense 31/31 - 1
16-3778116-G-A c.6932C>T p.P2311L Missense 31/31 - 1
16-3778128-G-C c.6920C>G p.S2307C Missense 31/31 - 1
16-3778136-C-A c.6912G>T p.Q2304H Missense 31/31 - 1
16-3778136-C-G c.6912G>C p.Q2304H Missense 31/31 - 1
16-3778137-T-C c.6911A>G p.Q2304R Missense 31/31 - 1
16-3778139-GC-G c.6909del p.Q2303Hfs*12 Frameshift 31/31 - 1
16-3778156-G-A c.6892C>T p.Q2298* Nonsense 31/31 - 1
16-3778157-C-A c.6891G>T p.Q2297H Missense 31/31 - 1
16-3778157-C-G c.6891G>C p.Q2297H Missense 31/31 - 1
16-3778158-T-G c.6890A>C p.Q2297P Missense 31/31 - 1
16-3778167-C-T c.6881G>A p.R2294Q Missense 31/31 - 1
16-3778186-G-A c.6862C>T p.Q2288* Nonsense 31/31 - 1
16-3778195-G-A c.6853C>T p.P2285S Missense 31/31 - 1
16-3778203-T-C c.6845A>G p.D2282G Missense 31/31 - 2
16-3778207-C-T c.6841G>A p.A2281T Missense 31/31 - 1
16-3778209-C-A c.6839G>T p.G2280V Missense 31/31 - 1
16-3778223-CCCCATCTGGCCAAGCTGT-C c.6807_6824del p.L2271_Q2276del InFrameDeletion 31/31 - 1
16-3778259-C-G c.6789G>C p.Q2263H Missense 31/31 - 1
16-3778269-G-A c.6779C>T p.S2260F Missense 31/31 - 1
16-3778272-C-T c.6776G>A p.S2259N Missense 31/31 - 1
16-3778282-G-T c.6766C>A p.L2256I Missense 31/31 - 1
16-3778285-G-A c.6763C>T p.P2255S Missense 31/31 - 1
16-3778285-G-C c.6763C>G p.P2255A Missense 31/31 - 1
16-3778287-A-G c.6761T>C p.L2254P Missense 31/31 - 1
16-3778302-CGCT-C c.6743_6745del p.Q2248del InFrameDeletion 31/31 - 1
16-3778330-A-T c.6718T>A p.Y2240N Missense 31/31 - 1
16-3778337-G-A c.6711C>T p.P2237= Synonymous 31/31 - 3
16-3778337-G-C c.6711C>G p.P2237= Synonymous 31/31 - 1
16-3778337-G-T c.6711C>A p.P2237= Synonymous 31/31 - 1
16-3778347-G-C c.6701C>G p.P2234R Missense 31/31 - 1
16-3778363-C-T c.6685G>A p.G2229S Missense 31/31 - 1
16-3778370-C-T c.6678G>A p.A2226= Synonymous 31/31 - 1
16-3778384-C-T c.6664G>A p.A2222T Missense 31/31 - 1
16-3778387-T-G c.6661A>C p.M2221L Missense 31/31 - 1
16-3778392-G-A c.6656C>T p.A2219V Missense 31/31 - 1
16-3778403-CTGCTGCTGCTGT-C c.6633_6644del p.Q2213_Q2216del InFrameDeletion 31/31 - 1
16-3778412-C-T c.6636G>A p.Q2212= Synonymous 31/31 - 1
16-3778399-CTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTG-C c.6610_6648del p.Q2204_Q2216del InFrameDeletion 31/31 - 1
16-3778409-CTGCTGT-C c.6633_6638del p.Q2215_Q2216del InFrameDeletion 31/31 - 3
16-3778412-CTGT-C c.6633_6635del p.Q2216del InFrameDeletion 31/31 - 1
16-3778406-CTGCTGCTGT-C c.6633_6641del p.Q2214_Q2216del InFrameDeletion 31/31 - 1
16-3778415-TTGC-T c.6630_6632del p.Q2216del InFrameDeletion 31/31 - 1
16-3778423-G-GC c.6624_6625insG p.Q2209Afs*132 Frameshift 31/31 - 1
16-3778403-CTGCTGCTGCTGTTGCTGCTGTTGT-C c.6621_6644del p.Q2209_Q2216del InFrameDeletion 31/31 - 1
16-3778412-CTGTTGCTGCTGT-C c.6624_6635del p.Q2213_Q2216del InFrameDeletion 31/31 - 1
16-3778418-CTGCTGTTGT-C c.6621_6629del p.Q2214_Q2216del InFrameDeletion 31/31 - 1
16-3778424-T-A c.6624A>T p.Q2208H Missense 31/31 - 3
16-3778424-T-C c.6624A>G p.Q2208= Synonymous 31/31 - 1
16-3778424-T-G c.6624A>C p.Q2208H Missense 31/31 - 4
16-3778424-T-TGTTGCTGCTGC c.6623_6624insGCAGCAGCAAC p.Q2212Hfs*94 Frameshift 31/31 - 1
16-3778415-TTGCTGCTGTTGTTGC-T c.6618_6632del p.Q2212_Q2216del InFrameDeletion 31/31 - 1
16-3778421-CTGT-C c.6624_6626del p.Q2216del InFrameDeletion 31/31 - 2
16-3778429-G-A c.6619C>T p.Q2207* Nonsense 31/31 - 1
16-3778438-G-GC c.6609_6610insG p.Q2204Afs*137 Frameshift 31/31 - 1
16-3778424-TTGTTGCTGCTGC-T c.6612_6623del p.Q2213_Q2216del InFrameDeletion 31/31 - 2
16-3778427-TTGCTGCTGCTGTTGC-T c.6606_6620del p.Q2212_Q2216del InFrameDeletion 31/31 - 1
16-3778436-CTGT-C c.6609_6611del p.Q2216del InFrameDeletion 31/31 - 1
16-3778439-T-TGC c.6608_6609insGC p.Q2204Hfs*99 Frameshift 31/31 - 3
16-3778439-TTGCTGCTGCTGC-T c.6597_6608del p.Q2213_Q2216del InFrameDeletion 31/31 - 1
16-3778439-TTGCTGCTGC-T c.6600_6608del p.Q2214_Q2216del InFrameDeletion 31/31 - 1
16-3778439-TTGCTGC-T c.6603_6608del p.Q2215_Q2216del InFrameDeletion 31/31 - 1
16-3778439-TTGC-T c.6606_6608del p.Q2216del InFrameDeletion 31/31 - 1
16-3778452-T-A c.6596A>T p.Q2199L Missense 31/31 - 2
16-3778455-A-T c.6593T>A p.L2198Q Missense 31/31 - 3
16-3778456-AGCAGCTGCCTCCG-A c.6580_6592del p.R2194Cfs*104 Frameshift 31/31 - 1
16-3778461-T-A c.6587A>T p.Q2196L Missense 31/31 - 1
16-3778480-G-A c.6568C>T p.R2190* Nonsense 31/31 - 1
16-3778494-A-G c.6554T>C p.M2185T Missense 31/31 - 1
16-3778500-G-A c.6548C>T p.A2183V Missense 31/31 - 1
16-3778500-G-C c.6548C>G p.A2183G Missense 31/31 - 1
16-3778504-T-G c.6544A>C p.M2182L Missense 31/31 - 1
16-3778509-G-C c.6539C>G p.P2180R Missense 31/31 - 1
16-3778524-T-C c.6524A>G p.N2175S Missense 31/31 - 1
16-3778543-G-A c.6505C>T p.Q2169* Nonsense 31/31 - 1
16-3778547-C-A c.6501G>T p.Q2167H Missense 31/31 - 1
16-3778564-C-G c.6484G>C p.G2162R Missense 31/31 - 1
16-3778564-C-T c.6484G>A p.G2162R Missense 31/31 - 1
16-3778570-C-T c.6478G>A p.A2160T Missense 31/31 - 1
16-3778575-T-G c.6473A>C p.Q2158P Missense 31/31 - 1
16-3778591-C-G c.6457G>C p.G2153R Missense 31/31 - 1
16-3778591-C-T c.6457G>A p.G2153S Missense 31/31 - 1
16-3778594-G-A c.6454C>T p.P2152S Missense 31/31 - 1
16-3778596-CG-TT c.6451_6452delinsAA p.R2151K Missense 31/31 - 1
16-3778596-C-T c.6452G>A p.R2151Q Missense 31/31 - 1
16-3778597-G-A c.6451C>T p.R2151W Missense 31/31 - 2
16-3778599-G-A c.6449C>T p.P2150L Missense 31/31 - 1
16-3778622-C-G c.6426G>C p.L2142= Synonymous 31/31 - 1
16-3778646-GTGCATGCCAGGCTGGGGT-G c.6384_6401del p.Q2128_M2133del InFrameDeletion 31/31 - 1
16-3778651-TGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAG-T c.6361_6396del p.L2121_G2132del InFrameDeletion 31/31 - 1
16-3778668-A-G c.6380T>C p.M2127T Missense 31/31 - 1
16-3778671-C-A c.6377G>T p.G2126V Missense 31/31 - 1
16-3778676-C-A c.6372G>T p.Q2124H Missense 31/31 - 1
16-3778676-C-G c.6372G>C p.Q2124H Missense 31/31 - 1
16-3778678-G-A c.6370C>T p.Q2124* Nonsense 31/31 - 1
16-3778664-TTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGC-T c.6348_6383del p.L2121_G2132del InFrameDeletion 31/31 - 1
16-3778680-G-T c.6368C>A p.S2123Y Missense 31/31 - 1
16-3778724-GTA-TTG c.6322_6324delinsCAA p.Y2108Q Missense 31/31 - 1
16-3778724-GT-CC c.6323_6324delinsGG p.Y2108W Missense 31/31 - 3
16-3778730-GGC-TTG c.6316_6318delinsCAA p.A2106Q Missense 31/31 - 1
16-3778736-GCG-CAT c.6310_6312delinsATG p.R2104M Missense 31/31 - 2
16-3778736-GCG-CTT c.6310_6312delinsAAG p.R2104K Missense 31/31 - 1
16-3778737-C-G c.6311G>C p.R2104P Missense 31/31 - 1
16-3778738-G-A c.6310C>T p.R2104C Missense 31/31 - 2
16-3778743-T-A c.6305A>T p.K2102I Missense 31/31 - 1
16-3778745-G-C c.6303C>G p.I2101M Missense 31/31 - 2
16-3778746-A-G c.6302T>C p.I2101T Missense 31/31 - 1
16-3778746-AT-GC c.6301_6302delinsGC p.I2101A Missense 31/31 - 2
16-3778747-T-C c.6301A>G p.I2101V Missense 31/31 - 2
16-3778749-AA-TG c.6298_6299delinsCA p.F2100H Missense 31/31 - 1
16-3778752-G-C c.6296C>G p.A2099G Missense 31/31 - 2
16-3778761-AG-GC c.6286_6287delinsGC p.L2096A Missense 31/31 - 2
16-3778762-G-T c.6286C>A p.L2096I Missense 31/31 - 1
16-3778765-G-A c.6283C>T p.Q2095* Nonsense 31/31 - 1
16-3778767-G-A c.6281C>T p.P2094L Missense 31/31 - 1
16-3778767-G-T c.6281C>A p.P2094Q Missense 31/31 - 1
16-3778773-G-C c.6275C>G p.S2092* Nonsense 31/31 - 1
16-3778779-AG-GC c.6268_6269delinsGC p.L2090A Missense 31/31 - 2
16-3778779-A-T c.6269T>A p.L2090H Missense 31/31 - 2
16-3778782-AT-TG c.6265_6266delinsCA p.I2089H Missense 31/31 - 1
16-3778783-T-C c.6265A>G p.I2089V Missense 31/31 - 1
16-3778788-AG-GC c.6259_6260delinsGC p.L2087A Missense 31/31 - 2
16-3778807-G-A c.6241C>T p.Q2081* Nonsense 31/31 - 1
16-3778812-G-A c.6236C>T p.S2079F Missense 31/31 - 1
16-3778814-GCT-CCA c.6232_6234delinsTGG p.S2078W Missense 31/31 - 2
16-3778819-G-C c.6229C>G p.P2077A Missense 31/31 - 1
16-3778817-GGGCGACTTCA-G c.6221_6230del p.L2074Pfs*11 Frameshift 31/31 - 1
16-3778821-G-A c.6227C>T p.S2076L Missense 31/31 - 1
16-3778824-T-A c.6224A>T p.K2075M Missense 31/31 - 2
16-3778827-AG-GC c.6220_6221delinsGC p.L2074A Missense 31/31 - 2
16-3778829-GGT-CCA c.6217_6219delinsTGG p.T2073W Missense 31/31 - 3
16-3778827-AG-A c.6220del p.L2074* Frameshift 31/31 - 1
16-3778833-C-T c.6215G>A p.R2072Q Missense 31/31 - 1
16-3778836-AG-GC c.6211_6212delinsGC p.L2071A Missense 31/31 - 2
16-3778839-AG-GC c.6208_6209delinsGC p.L2070A Missense 31/31 - 2
16-3778842-T-G c.6206A>C p.D2069A Missense 31/31 - 1
16-3778846-G-A c.6202C>T p.Q2068* Nonsense 31/31 - 1
16-3778848-AG-CA c.6199_6200delinsTG p.L2067W Missense 31/31 - 2
16-3778848-AG-GC c.6199_6200delinsGC p.L2067A Missense 31/31 - 2
16-3778851-G-T c.6197C>A p.A2066D Missense 31/31 - 1
16-3778860-G-C c.6188C>G p.S2063* Nonsense 31/31 - 1
16-3778860-G-T c.6188C>A p.S2063* Nonsense 31/31 - 1
16-3778879-G-A c.6169C>T p.Q2057* Nonsense 31/31 - 1
16-3778885-T-G c.6163A>C p.S2055R Missense 31/31 - 1
16-3778888-G-A c.6160C>T p.P2054S Missense 31/31 - 1
16-3778890-A-G c.6158T>C p.M2053T Missense 31/31 - 1
16-3778906-C-T c.6142G>A p.V2048M Missense 31/31 - 1
16-3778911-G-A c.6137C>T p.A2046V Missense 31/31 - 1
16-3778915-G-A c.6133C>T p.Q2045* Nonsense 31/31 - 1
16-3778918-C-G c.6130G>C p.A2044P Missense 31/31 - 1
16-3778921-G-A c.6127C>T p.Q2043* Nonsense 31/31 - 2
16-3778926-G-A c.6122C>T p.S2041F Missense 31/31 - 1
16-3778932-CACAGGCCTGG-C c.6107_6116del p.P2036Rfs*36 Frameshift 31/31 - 1
16-3778947-C-A c.6101G>T p.G2034V Missense 31/31 - 1
16-3778960-G-A c.6088C>T p.Q2030* Nonsense 31/31 - 1
16-3778962-T-C c.6086A>G p.Q2029R Missense 31/31 - 1
16-3778971-A-T c.6077T>A p.L2026H Missense 31/31 - 1
16-3778977-G-A c.6071C>T p.A2024V Missense 31/31 - 1
16-3778979-C-A c.6069G>T p.Q2023H Missense 31/31 - 1
16-3778976-CGCCTGCT-C c.6065_6071del p.Q2022Rfs*16 Frameshift 31/31 - 1
16-3778981-G-A c.6067C>T p.Q2023* Nonsense 31/31 - 1
16-3778982-C-CT c.6065dup p.Q2023Afs*318 Frameshift 31/31 - 1
16-3779005-CT-C c.6043del p.S2015Afs*25 Frameshift 31/31 - 1
16-3779010-A-C c.6038T>G p.M2013R Missense 31/31 - 1
16-3779014-C-T c.6034G>A p.V2012I Missense 31/31 - 1
16-3779056-CG-C c.5991del p.V1998* Frameshift 31/31 - 2
16-3779067-T-A c.5981A>T p.Q1994L Missense 31/31 - 1
16-3779074-C-T c.5974G>A p.G1992R Missense 31/31 - 1
16-3779070-CTCCCCGGGG-C c.5969_5977del p.T1990_G1992del InFrameDeletion 31/31 - 1
16-3779076-G-A c.5972C>T p.P1991L Missense 31/31 - 1
16-3779077-G-A c.5971C>T p.P1991S Missense 31/31 - 2
16-3779094-C-T c.5954G>A p.R1985H Missense 31/31 - 1
16-3779101-G-T c.5947C>A p.P1983T Missense 31/31 - 1
16-3779099-TG-T c.5948del p.P1983Qfs*16 Frameshift 31/31 - 1
16-3779105-C-A c.5943G>T p.M1981I Missense 31/31 - 1
16-3779105-C-G c.5943G>C p.M1981I Missense 31/31 - 1
16-3779105-C-T c.5943G>A p.M1981I Missense 31/31 - 2
16-3779115-T-A c.5933A>T p.N1978I Missense 31/31 - 1
16-3779115-T-C c.5933A>G p.N1978S Missense 31/31 - 6
16-3779116-T-C c.5932A>G p.N1978D Missense 31/31 - 1
16-3779140-TGC-T c.5907_5908del p.Q1970Afs*370 Frameshift 31/31 - 1
16-3779143-G-A c.5905C>T p.Q1969* Nonsense 31/31 - 1
16-3779146-G-A c.5902C>T p.Q1968* Nonsense 31/31 - 1
16-3779135-GTGC-G c.5910_5912del p.Q1970del InFrameDeletion 31/31 - 3
16-3779148-CT-C c.5900del p.Q1967Rfs*9 Frameshift 31/31 - 1
16-3779152-C-A c.5896G>T p.A1966S Missense 31/31 - 1
16-3779155-C-A c.5893G>T p.E1965* Nonsense 31/31 - 1
16-3779161-C-A c.5887G>T p.E1963* Nonsense 31/31 - 1
16-3779173-C-T c.5875G>A p.A1959T Missense 31/31 - 1
16-3779175-G-A c.5873C>T p.A1958V Missense 31/31 - 1
16-3779185-C-G c.5863G>C p.A1955P Missense 31/31 - 1
16-3779192-A-G c.5856T>C p.P1952= Synonymous 31/31 - 1
16-3779195-G-C c.5853C>G p.P1951= Synonymous 31/31 - 1
16-3779199-T-G c.5849A>C p.Q1950P Missense 31/31 - 2
16-3779205-G-A c.5843C>T p.P1948L Missense 31/31 - 2
16-3779208-G-GT c.5839_5840insA p.P1947Hfs*19 Frameshift 31/31 - 1
16-3779210-T-G c.5838A>C p.P1946= Synonymous 31/31 - 1
16-3779211-G-T c.5837C>A p.P1946Q Missense 31/31 - 1
16-3779210-TG-T c.5837del p.P1946Hfs*30 Frameshift 31/31 - 5
16-3779210-T-TG c.5837dup p.P1947Tfs*19 Frameshift 31/31 - 3
16-3779217-G-C c.5831C>G p.A1944G Missense 31/31 - 1
16-3779217-GC-G c.5830del p.A1944Pfs*32 Frameshift 31/31 - 1
16-3779217-G-GC c.5830dup p.A1944Gfs*22 Frameshift 31/31 - 1
16-3779220-G-A c.5828C>T p.P1943L Missense 31/31 - 1
16-3779221-G-A c.5827C>T p.P1943S Missense 31/31 - 1
16-3779245-T-C c.5803A>G p.T1935A Missense 31/31 - 1
16-3779243-TGTGGACACC-T c.5796_5804del p.V1933_T1935del InFrameDeletion 31/31 - 1
16-3779248-A-G c.5800T>C p.S1934P Missense 31/31 - 3
16-3779248-ACAC-A c.5797_5799del p.V1933del InFrameDeletion 31/31 - 2
16-3779254-T-G c.5794A>C p.T1932P Missense 31/31 - 1
16-3779271-C-T c.5777G>A p.R1926Q Missense 31/31 - 1
16-3779278-C-T c.5770G>A p.V1924M Missense 31/31 - 2
16-3779296-G-T c.5752C>A p.P1918T Missense 31/31 - 1
16-3779304-C-T c.5744G>A p.S1915N Missense 31/31 - 1
16-3779308-C-T c.5740G>A p.V1914M Missense 31/31 - 1
16-3779311-G-A c.5737C>T p.P1913S Missense 31/31 - 1
16-3779322-G-A c.5726C>T p.P1909L Missense 31/31 - 1
16-3779328-G-C c.5720C>G p.A1907G Missense 31/31 - 1
16-3779329-C-T c.5719G>A p.A1907T Missense 31/31 - 3
16-3779331-G-C c.5717C>G p.P1906R Missense 31/31 - 1
16-3779334-G-A c.5714C>T p.P1905L Missense 31/31 - 1
16-3779335-G-A c.5713C>T p.P1905S Missense 31/31 - 1
16-3779339-C-T c.5709G>A p.P1903= Synonymous 31/31 - 1
16-3779343-G-A c.5705C>T p.T1902M Missense 31/31 - 1
16-3779368-T-G c.5680A>C p.T1894P Missense 31/31 - 1
16-3779380-G-GC c.5667dup p.P1890Afs*76 Frameshift 31/31 - 1
16-3779385-G-A c.5663C>T p.A1888V Missense 31/31 - 1
16-3779386-C-T c.5662G>A p.A1888T Missense 31/31 - 1
16-3779388-G-C c.5660C>G p.S1887* Nonsense 31/31 - 1
16-3779388-G-T c.5660C>A p.S1887* Nonsense 31/31 - 1
16-3779389-AG-A c.5658del p.S1887Qfs*28 Frameshift 31/31 - 1
16-3779394-G-T c.5654C>A p.P1885H Missense 31/31 - 1
16-3779396-AG-TT c.5651_5652delinsAA p.S1884* Nonsense 31/31 - 1
16-3779406-C-T c.5642G>A p.S1881N Missense 31/31 - 1
16-3779410-G-A c.5638C>T p.Q1880* Nonsense 31/31 - 1
16-3779413-G-A c.5635C>T p.Q1879* Nonsense 31/31 - 2
16-3779424-C-A c.5624G>T p.R1875L Missense 31/31 - 1
16-3779424-C-T c.5624G>A p.R1875H Missense 31/31 - 1
16-3779434-T-C c.5614A>G p.M1872V Missense 31/31 - 3
16-3779436-G-C c.5612C>G p.T1871S Missense 31/31 - 1
16-3779440-C-G c.5608G>C p.A1870P Missense 31/31 - 2
16-3779445-C-A c.5603G>T p.R1868L Missense 31/31 - 1
16-3779445-C-T c.5603G>A p.R1868Q Missense 31/31 - 3
16-3779446-G-A c.5602C>T p.R1868W Missense 31/31 - 5
16-3779448-C-T c.5600G>A p.R1867Q Missense 31/31 - 3
16-3779449-G-A c.5599C>T p.R1867W Missense 31/31 - 3
16-3779449-GGCGCAT-G c.5593_5598del p.M1865_R1866del InFrameDeletion 31/31 - 1
16-3779455-T-C c.5593A>G p.M1865V Missense 31/31 - 1
16-3779457-AGCTGGGCCTGCTGCAGGCGGT-A c.5570_5590del p.H1857_Q1863del InFrameDeletion 31/31 - 1
16-3779463-G-T c.5585C>A p.A1862D Missense 31/31 - 1
16-3779476-G-A c.5572C>T p.R1858C Missense 31/31 - 1
16-3779476-G-C c.5572C>G p.R1858G Missense 31/31 - 1
16-3779478-T-A c.5570A>T p.H1857L Missense 31/31 - 1
16-3779485-T-C c.5563A>G p.I1855V Missense 31/31 - 1
16-3779496-C-T c.5552G>A p.R1851H Missense 31/31 - 1
16-3779496-GC-G c.5552del p.R1851Pfs*22 Frameshift 31/31 - 1
16-3779497-G-A c.5551C>T p.R1851C Missense 31/31 - 1
16-3779501-CT-C c.5546del p.K1849Sfs*24 Frameshift 31/31 - 1
16-3779503-T-A c.5545A>T p.K1849* Nonsense 31/31 - 1
16-3779514-T-A c.5534A>T p.N1845I Missense 31/31 - 1
16-3779521-A-G c.5527T>C p.C1843R Missense 31/31 - 1
16-3779531-G-A c.5517C>T p.P1839= Synonymous 31/31 - 1
16-3779531-G-C c.5517C>G p.P1839= Synonymous 31/31 - 1
16-3779531-G-T c.5517C>A p.P1839= Synonymous 31/31 - 2
16-3779532-G-T c.5516C>A p.P1839H Missense 31/31 - 1
16-3779530-CG-C c.5517del p.V1840Cfs*33 Frameshift 31/31 - 1
16-3779534-G-C c.5514C>G p.C1838W Missense 31/31 - 1
16-3779535-C-T c.5513G>A p.C1838Y Missense 31/31 - 1
16-3779537-TTTG-T c.5508_5510del p.N1836del InFrameDeletion 31/31 - 1
16-3779548-G-A c.5500C>T p.Q1834* Nonsense 31/31 - 1
16-3779551-A-G c.5497T>C p.C1833R Missense 31/31 - 1
16-3779553-T-C c.5495A>G p.H1832R Missense 31/31 - 1
16-3779554-G-A c.5494C>T p.H1832Y Missense 31/31 - 1
16-3779556-T-C c.5492A>G p.K1831R Missense 31/31 - 1
16-3779563-G-A c.5485C>T p.H1829Y Missense 31/31 - 2
16-3779563-G-C c.5485C>G p.H1829D Missense 31/31 - 3
16-3779565-T-C c.5483A>G p.Y1828C Missense 31/31 - 1
16-3779570-G-C c.5478C>G p.C1826W Missense 31/31 - 3
16-3779575-G-A c.5473C>T p.L1825F Missense 31/31 - 2
16-3779575-G-T c.5473C>A p.L1825I Missense 31/31 - 1
16-3779578-C-T c.5470G>A p.A1824T Missense 31/31 - 2
16-3779584-G-T c.5464C>A p.L1822I Missense 31/31 - 1
16-3779592-C-A c.5456G>T p.C1819F Missense 31/31 - 1
16-3779592-C-T c.5456G>A p.C1819Y Missense 31/31 - 1
16-3779594-C-T c.5454G>A p.V1818= Synonymous 31/31 - 1
16-3779598-G-A c.5450C>T p.P1817L Missense 31/31 - 1
16-3779600-GCAGCC-G c.5443_5447del p.G1815Pfs*149 Frameshift 31/31 - 1
16-3779615-C-A c.5433G>T p.K1811N Missense 31/31 - 1
16-3779615-CT-C c.5432del p.K1811Rfs*62 Frameshift 31/31 - 1
16-3779620-G-A c.5428C>T p.R1810C Missense 31/31 - 1
16-3779625-C-T c.5423G>A p.C1808Y Missense 31/31 - 1
16-3779635-T-C c.5413A>G p.T1805A Missense 31/31 - 1
16-3779641-G-A c.5407C>T p.Q1803* Nonsense 31/31 - 1
16-3779647-C-T c.5401G>A p.V1801M Missense 31/31 - 1
16-3779649-C-T c.5399G>A p.R1800Q Missense 31/31 - 1
16-3779650-G-A c.5398C>T p.R1800W Missense 31/31 - 1
16-3779651-C-A c.5397G>T p.K1799N Missense 31/31 - 1
16-3779650-GCTT-G c.5395_5397del p.K1799del InFrameDeletion 31/31 - 1
16-3779664-C-T c.5384G>A p.C1795Y Missense 31/31 - 1
16-3779665-A-G c.5383T>C p.C1795R Missense 31/31 - 1
16-3779676-G-A c.5372C>T p.S1791L Missense 31/31 - 1
16-3779684-G-C c.5364C>G p.A1788= Synonymous 31/31 - 2
16-3779691-C-G c.5357G>C p.R1786P Missense 31/31 - 1
16-3779691-C-T c.5357G>A p.R1786H Missense 31/31 - 3
16-3779691-C-CGACATT c.5356_5357insAATGTC p.Q1784_C1785dup InFrameInsertion 31/31 - 1
16-3779694-C-T c.5354G>A p.C1785Y Missense 31/31 - 1
16-3779698-G-A c.5350C>T p.Q1784* Nonsense 31/31 - 1
16-3779703-G-A c.5345C>T p.A1782V Missense 31/31 - 1
16-3779704-C-T c.5344G>A p.A1782T Missense 31/31 - 1
16-3779715-G-A c.5333C>T p.S1778L Missense 31/31 - 1
16-3779719-G-A c.5329C>T p.Q1777* Nonsense 31/31 - 1
16-3779720-G-C c.5328C>G p.I1776M Missense 31/31 - 1
16-3779723-G-T c.5325C>A p.C1775* Nonsense 31/31 - 1
16-3779725-A-G c.5323T>C p.C1775R Missense 31/31 - 1
16-3779727-C-T c.5321G>A p.R1774H Missense 31/31 - 2
16-3779731-G-A c.5317C>T p.Q1773* Nonsense 31/31 - 1
16-3779748-G-C c.5300C>G p.S1767* Nonsense 31/31 - 1
16-3779754-T-TG c.5293dup p.Q1765Pfs*201 Frameshift 31/31 - 1
16-3779761-T-A c.5287A>T p.S1763C Missense 31/31 - 1
16-3779766-G-C c.5282C>G p.S1761* Nonsense 31/31 - 3
16-3779766-G-T c.5282C>A p.S1761* Nonsense 31/31 - 3
16-3779770-G-A c.5278C>T p.Q1760* Nonsense 31/31 - 1
16-3779772-G-A c.5276C>T p.P1759L Missense 31/31 - 1
16-3779776-C-T c.5272G>A p.E1758K Missense 31/31 - 2
16-3779789-G-C c.5259C>G p.G1753= Synonymous 31/31 - 1
16-3779794-C-A c.5254G>T p.E1752* Nonsense 31/31 - 1
16-3779805-C-CGGCACT c.5242_5243insAGTGCC p.G1748delinsECR MultiAAMissense 31/31 - 1
16-3779808-A-C c.5240T>G p.L1747R Missense 31/31 - 2
16-3779811-C-A c.5237G>T p.G1746V Missense 31/31 - 2
16-3779813-C-T c.5235G>A p.W1745* Nonsense 31/31 - 2
16-3779814-C-T c.5234G>A p.W1745* Nonsense 31/31 - 2
16-3779827-T-A c.5221A>T p.K1741* Nonsense 31/31 - 2
16-3779838-C-T c.5210G>A p.S1737N Missense 31/31 - 1
16-3779840-C-G c.5208G>C p.K1736N Missense 31/31 - 1
16-3779844-G-A c.5204C>T p.T1735M Missense 31/31 - 1
16-3779847-T-TA c.5200_5201insT p.N1734Ifs*8 Frameshift 31/31 - 1
16-3779860-T-C c.5188A>G p.I1730V Missense 31/31 - 1
16-3781195-C-T c.5170G>A p.E1724K Missense 30/31 - 1
16-3781198-ACACAGTG-A c.5160_5166del p.T1721Afs*21 Frameshift 30/31 - 1
16-3781207-A-G c.5158T>C p.C1720R Missense 30/31 - 1
16-3781210-G-C c.5155C>G p.H1719D Missense 30/31 - 1
16-3781213-A-C c.5152T>G p.W1718G Missense 30/31 - 1
16-3781216-G-A c.5149C>T p.R1717C Missense 30/31 - 1
16-3781218-G-A c.5147C>T p.T1716M Missense 30/31 - 1
16-3781225-C-A c.5140G>T p.V1714L Missense 30/31 - 1
16-3781225-C-G c.5140G>C p.V1714L Missense 30/31 - 1
16-3781225-C-T c.5140G>A p.V1714M Missense 30/31 - 1
16-3781234-T-A c.5131A>T p.K1711* Nonsense 30/31 - 1
16-3781236-C-T c.5129G>A p.C1710Y Missense 30/31 - 3
16-3781237-A-G c.5128T>C p.C1710R Missense 30/31 - 1
16-3781240-C-A c.5125G>T p.E1709* Nonsense 30/31 - 1
16-3781240-C-T c.5125G>A p.E1709K Missense 30/31 - 2
16-3781241-G-A c.5124C>T p.N1708= Synonymous 30/31 - 1
16-3781260-C-T c.5105G>A p.R1702H Missense 30/31 - 2
16-3781261-G-T c.5104C>A p.R1702S Missense 30/31 - 1
16-3781267-G-T c.5098C>A p.Q1700K Missense 30/31 - 1
16-3781274-GG-CA c.5090_5091delinsTG p.T1697M Missense 30/31 - 1
16-3781279-G-T c.5086C>A p.H1696N Missense 30/31 - 1
16-3781284-CTCCACCA-C c.5075_5081del p.L1692Rfs*50 Frameshift 30/31 - 1
16-3781288-C-T c.5077G>A p.V1693M Missense 30/31 - 1
16-3781299-A-G c.5066T>C p.L1689P Missense 30/31 - 3
16-3781305-G-A c.5060C>T p.S1687F Missense 30/31 - 1
16-3781307-C-T c.5058G>A p.W1686* Nonsense 30/31 - 2
16-3781308-C-T c.5057G>A p.W1686* Nonsense 30/31 - 1
16-3781313-G-A c.5052C>T p.S1684= Synonymous 30/31 - 2
16-3781313-G-C c.5052C>G p.S1684= Synonymous 30/31 - 1
16-3781313-G-T c.5052C>A p.S1684= Synonymous 30/31 - 1
16-3781317-C-T c.5048G>A p.R1683H Missense 30/31 - 1
16-3781320-C-T c.5045G>A p.R1682H Missense 30/31 - 1
16-3781323-CAAG-C c.5040_5042del p.L1681del InFrameDeletion 30/31 - 1
16-3781322-CA-C c.5042del p.L1681Cfs*63 Frameshift 30/31 - 1
16-3781325-GG-TT c.5039_5040delinsAA p.S1680* Nonsense 30/31 - 1
16-3781323-AAGG-A c.5039_5041del p.S1680del InFrameDeletion 30/31 - 16
16-3781328-GGA-G c.5035_5036del p.S1679Lfs*55 Frameshift 30/31 - 1
16-3781329-GAGA-G c.5033_5035del p.F1678del InFrameDeletion 30/31 - 1
16-3781336-C-T c.5029G>A p.E1677K Missense 30/31 - 1
16-3781337-C-A c.5028G>T p.W1676C Missense 30/31 - 1
16-3781337-C-G c.5028G>C p.W1676C Missense 30/31 - 1
16-3781337-C-T c.5028G>A p.W1676* Nonsense 30/31 - 1
16-3781347-T-G c.5018A>C p.D1673A Missense 30/31 - 1
16-3781350-C-T c.5015G>A p.R1672K Missense 30/31 - 2
16-3781353-G-A c.5012C>T p.A1671V Missense 30/31 - 1
16-3781355-G-A c.5010C>T p.L1670= Synonymous 30/31 - 1
16-3781374-C-A c.4991G>T p.R1664L Missense 30/31 - 1
16-3781374-C-T c.4991G>A p.R1664H Missense 30/31 - 4
16-3781375-G-A c.4990C>T p.R1664C Missense 30/31 - 5
16-3781375-G-C c.4990C>G p.R1664G Missense 30/31 - 1
16-3781385-G-GA c.4979dup p.M1661Hfs*74 Frameshift 30/31 - 1
16-3781404-G-GTTTT c.4960_4961insAAAA p.P1654Qfs*7 Frameshift 30/31 - 1
16-3781401-AG-A c.4963del p.L1655Cfs*89 Frameshift 30/31 - 2
16-3781420-T-TG c.4944dup p.I1649Hfs*11 Frameshift 30/31 - 3
16-3781426-G-C c.4939C>G p.P1647A Missense 30/31 - 1
16-3781434-T-G c.4931A>C p.N1644T Missense 30/31 - 1
16-3781436-G-C c.4929C>G p.I1643M Missense 30/31 - 1
16-3781434-TTGA-T c.4928_4930del p.I1643del InFrameDeletion 30/31 - 2
16-3781443-AGGC-A c.4920_4922del p.P1641del InFrameDeletion 30/31 - 1
16-3781449-G-A c.4916C>T p.A1639V Missense 30/31 - 1
16-3781450-C-A c.4915G>T p.A1639S Missense 30/31 - 1
16-3781451-G-C c.4914C>G p.H1638Q Missense 30/31 - 1
16-3781465-ACGAAG-A c.4896_4900del p.F1633Dfs*25 Frameshift 30/31 - 1
16-3781471-A-C c.4894T>G p.F1632V Missense 30/31 - 1
16-3781473-A-C c.4892T>G p.V1631G Missense 30/31 - 1
16-3781773-CCTACCTCCTTGT-C c.4883_4890+4del - SpliceDonorDeletion 29/31 29/30 1
16-3781776-C-A c.4890+1G>T - IntronicSNV - 29/30 1
16-3781788-T-A c.4879A>T p.K1627* Nonsense 29/31 - 1
16-3781796-G-A c.4871C>T p.T1624I Missense 29/31 - 1
16-3781803-A-T c.4864T>A p.Y1622N Missense 29/31 - 1
16-3781809-T-G c.4858A>C p.K1620Q Missense 29/31 - 2
16-3781812-G-T c.4855C>A p.Q1619K Missense 29/31 - 1
16-3781814-G-A c.4853C>T p.S1618F Missense 29/31 - 1
16-3781823-T-A c.4844A>T p.N1615I Missense 29/31 - 1
16-3781830-AC-A c.4837del p.V1613Cfs*22 Frameshift 29/31 - 1
16-3781833-T-A c.4834A>T p.N1612Y Missense 29/31 - 1
16-3781839-T-A c.4828A>T p.M1610L Missense 29/31 - 1
16-3781839-T-G c.4828A>C p.M1610L Missense 29/31 - 1
16-3781840-G-C c.4827C>G p.S1609R Missense 29/31 - 1
16-3781840-G-T c.4827C>A p.S1609R Missense 29/31 - 1
16-3781842-T-G c.4825A>C p.S1609R Missense 29/31 - 1
16-3781845-G-T c.4822C>A p.P1608T Missense 29/31 - 2
16-3781860-C-T c.4807G>A p.A1603T Missense 29/31 - 1
16-3781870-G-C c.4797C>G p.S1599R Missense 29/31 - 1
16-3781870-G-T c.4797C>A p.S1599R Missense 29/31 - 1
16-3781872-T-G c.4795A>C p.S1599R Missense 29/31 - 1
16-3781894-CTTG-C c.4770_4772del p.N1590del InFrameDeletion 29/31 - 1
16-3781900-G-C c.4767C>G p.N1589K Missense 29/31 - 1
16-3781903-C-G c.4764G>C p.K1588N Missense 29/31 - 1
16-3781911-T-A c.4756A>T p.K1586* Nonsense 29/31 - 1
16-3781913-GGCA-G c.4752_4754del p.A1585del InFrameDeletion 29/31 - 1
16-3781932-G-C c.4735C>G p.Q1579E Missense 29/31 - 1
16-3781952-C-G c.4729-14G>C - IntronicSNV - 28/30 3
16-3781952-C-T c.4729-14G>A - IntronicSNV - 28/30 3
16-3782705-C-T c.4729-767G>A - IntronicSNV - 28/30 1
16-3782917-C-T c.4729-979G>A - IntronicSNV - 28/30 2
16-3782943-C-T c.4729-1005G>A - IntronicSNV - 28/30 1
16-3786036-C-T c.4728+1G>A - IntronicSNV - 28/30 1
16-3786051-T-G c.4714A>C p.S1572R Missense 28/31 - 1
16-3786054-C-A c.4711G>T p.A1571S Missense 28/31 - 2
16-3786060-T-C c.4705A>G p.T1569A Missense 28/31 - 2
16-3786069-C-A c.4696G>T p.E1566* Nonsense 28/31 - 1
16-3786070-C-G c.4695G>C p.K1565N Missense 28/31 - 1
16-3786072-T-A c.4693A>T p.K1565* Nonsense 28/31 - 1
16-3786070-CT-C c.4694del p.K1565Rfs*70 Frameshift 28/31 - 1
16-3786078-T-A c.4687A>T p.R1563W Missense 28/31 - 1
16-3786082-CTCT-C c.4680_4682del p.E1562del InFrameDeletion 28/31 - 2
16-3786093-G-A c.4672C>T p.Q1558* Nonsense 28/31 - 1
16-3786098-A-G c.4667T>C p.L1556P Missense 28/31 - 1
16-3786105-T-A c.4660A>T p.K1554* Nonsense 28/31 - 1
16-3786110-CTCTCT-C c.4650_4654del p.E1551Hfs*2 Frameshift 28/31 - 3
16-3786117-C-G c.4648G>C p.E1550Q Missense 28/31 - 1
16-3786117-C-T c.4648G>A p.E1550K Missense 28/31 - 1
16-3786125-T-C c.4640A>G p.N1547S Missense 28/31 - 1
16-3786124-A-AT c.4640dup p.N1547Kfs*8 Frameshift 28/31 - 1
16-3786130-C-A c.4635G>T p.W1545C Missense 28/31 - 1
16-3786130-C-G c.4635G>C p.W1545C Missense 28/31 - 1
16-3786130-GCCAGAAATCACCTTCAA-G c.4619_4635del p.F1540Sfs*9 Frameshift 28/31 - 1
16-3786132-A-G c.4633T>C p.W1545R Missense 28/31 - 1
16-3786134-A-G c.4631T>C p.F1544S Missense 28/31 - 1
16-3786137-T-A c.4628A>T p.D1543V Missense 28/31 - 1
16-3786138-C-A c.4627G>T p.D1543Y Missense 28/31 - 3
16-3786138-C-G c.4627G>C p.D1543H Missense 28/31 - 1
16-3786141-C-G c.4624G>C p.G1542R Missense 28/31 - 2
16-3786144-C-A c.4621G>T p.E1541* Nonsense 28/31 - 1
16-3786149-T-C c.4616A>G p.Y1539C Missense 28/31 - 3
16-3786148-ATAGGGCAGTTCC-A c.4605_4616del p.K1535_Y1539delinsN MultiAAMissense 28/31 - 1
16-3786152-G-C c.4613C>G p.P1538R Missense 28/31 - 1
16-3786158-T-C c.4607A>G p.E1536G Missense 28/31 - 1
16-3786162-T-A c.4603A>T p.K1535* Nonsense 28/31 - 1
16-3786172-G-A c.4593C>T p.L1531= Synonymous 28/31 - 1
16-3786180-C-A c.4585G>T p.D1529Y Missense 28/31 - 1
16-3786203-T-A c.4562A>T p.D1521V Missense 28/31 - 2
16-3786204-C-A c.4561G>T p.D1521Y Missense 28/31 - 1
16-3786631-C-G c.4560+20G>C - IntronicSNV - 27/30 1
16-3786635-C-T c.4560+16G>A - IntronicSNV - 27/30 1
16-3786637-T-C c.4560+14A>G - IntronicSNV - 27/30 1
16-3786654-G-C c.4557C>G p.Y1519* Nonsense 27/31 - 1
16-3786654-G-T c.4557C>A p.Y1519* Nonsense 27/31 - 1
16-3786670-C-T c.4541G>A p.R1514Q Missense 27/31 - 1
16-3786671-G-A c.4540C>T p.R1514W Missense 27/31 - 1
16-3786671-GCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCA-G c.4504_4539del p.W1502_E1513del InFrameDeletion 27/31 - 1
16-3786677-C-T c.4534G>A p.A1512T Missense 27/31 - 1
16-3786683-C-T c.4528G>A p.A1510T Missense 27/31 - 1
16-3786689-C-G c.4522G>C p.D1508H Missense 27/31 - 1
16-3786691-A-G c.4520T>C p.L1507P Missense 27/31 - 1
16-3786703-T-A c.4508A>T p.Y1503F Missense 27/31 - 4
16-3786703-T-C c.4508A>G p.Y1503C Missense 27/31 - 3
16-3786703-T-G c.4508A>C p.Y1503S Missense 27/31 - 2
16-3786704-A-C c.4507T>G p.Y1503D Missense 27/31 - 2
16-3786704-A-G c.4507T>C p.Y1503H Missense 27/31 - 4
16-3786704-A-T c.4507T>A p.Y1503N Missense 27/31 - 1
16-3786704-TA-T c.4507del p.Y1503Tfs*47 Frameshift 27/31 - 1
16-3786705-C-A c.4506G>T p.W1502C Missense 27/31 - 1
16-3786705-C-G c.4506G>C p.W1502C Missense 27/31 - 1
16-3786706-C-A c.4505G>T p.W1502L Missense 27/31 - 1
16-3786706-CA-GC c.4504_4505delinsGC p.W1502A Missense 27/31 - 4
16-3786706-C-G c.4505G>C p.W1502S Missense 27/31 - 1
16-3786706-C-T c.4505G>A p.W1502* Nonsense 27/31 - 1
16-3786707-A-C c.4504T>G p.W1502G Missense 27/31 - 2
16-3786709-T-C c.4502A>G p.E1501G Missense 27/31 - 2
16-3786711-C-A c.4500G>T p.Q1500H Missense 27/31 - 1
16-3786711-C-G c.4500G>C p.Q1500H Missense 27/31 - 1
16-3786712-T-G c.4499A>C p.Q1500P Missense 27/31 - 3
16-3786715-A-G c.4496T>C p.L1499P Missense 27/31 - 2
16-3786715-A-T c.4496T>A p.L1499Q Missense 27/31 - 1
16-3786719-G-A c.4492C>T p.R1498* Nonsense 27/31 - 8
16-3786721-T-G c.4490A>C p.K1497T Missense 27/31 - 3
16-3786727-T-C c.4484A>G p.K1495R Missense 27/31 - 1
16-3786729-TGGG-T c.4480_4482del p.P1494del InFrameDeletion 27/31 - 1
16-3786730-G-C c.4481C>G p.P1494R Missense 27/31 - 1
16-3786728-T-TG c.4482dup p.K1495Qfs*24 Frameshift 27/31 - 1
16-3786731-G-T c.4480C>A p.P1494T Missense 27/31 - 2
16-3786733-A-AT c.4477dup p.I1493Nfs*26 Frameshift 27/31 - 1
16-3786740-G-A c.4471C>T p.Q1491* Nonsense 27/31 - 2
16-3786740-G-C c.4471C>G p.Q1491E Missense 27/31 - 1
16-3786740-G-T c.4471C>A p.Q1491K Missense 27/31 - 3
16-3786741-A-C c.4470T>G p.D1490E Missense 27/31 - 1
16-3786741-A-T c.4470T>A p.D1490E Missense 27/31 - 1
16-3786745-G-A c.4466C>T p.P1489L Missense 27/31 - 1
16-3786748-G-A c.4463C>T p.P1488L Missense 27/31 - 3
16-3786750-G-C c.4461C>G p.H1487Q Missense 27/31 - 1
16-3786750-G-T c.4461C>A p.H1487Q Missense 27/31 - 2
16-3786751-T-A c.4460A>T p.H1487L Missense 27/31 - 1
16-3786752-G-A c.4459C>T p.H1487Y Missense 27/31 - 3
16-3786756-AATG-A c.4453_4455del p.H1485del InFrameDeletion 27/31 - 1
16-3786757-T-C c.4454A>G p.H1485R Missense 27/31 - 1
16-3786760-A-C c.4451T>G p.F1484C Missense 27/31 - 2
16-3786760-A-G c.4451T>C p.F1484S Missense 27/31 - 1
16-3786761-A-C c.4450T>G p.F1484V Missense 27/31 - 1
16-3786763-A-G c.4448T>C p.I1483T Missense 27/31 - 3
16-3786764-T-A c.4447A>T p.I1483F Missense 27/31 - 1
16-3786766-T-C c.4445A>G p.Y1482C Missense 27/31 - 1
16-3786767-A-C c.4444T>G p.Y1482D Missense 27/31 - 1
16-3786767-A-G c.4444T>C p.Y1482H Missense 27/31 - 1
16-3786767-A-T c.4444T>A p.Y1482N Missense 27/31 - 1
16-3786769-T-A c.4442A>T p.D1481V Missense 27/31 - 1
16-3786769-T-C c.4442A>G p.D1481G Missense 27/31 - 1
16-3786770-C-G c.4441G>C p.D1481H Missense 27/31 - 1
16-3786771-A-C c.4440T>G p.D1480E Missense 27/31 - 1
16-3786771-A-T c.4440T>A p.D1480E Missense 27/31 - 1
16-3786775-C-A c.4436G>T p.G1479V Missense 27/31 - 1
16-3786776-C-A c.4435G>T p.G1479* Nonsense 27/31 - 6
16-3786782-T-A c.4429A>T p.S1477C Missense 27/31 - 1
16-3786784-G-A c.4427C>T p.P1476L Missense 27/31 - 1
16-3786787-G-A c.4424C>T p.P1475L Missense 27/31 - 1
16-3786794-C-T c.4417G>A p.A1473T Missense 27/31 - 1
16-3786795-C-A c.4416G>T p.W1472C Missense 27/31 - 3
16-3786795-C-G c.4416G>C p.W1472C Missense 27/31 - 2
16-3786796-C-G c.4415G>C p.W1472S Missense 27/31 - 2
16-3786797-A-C c.4414T>G p.W1472G Missense 27/31 - 1
16-3786799-A-G c.4412T>C p.I1471T Missense 27/31 - 2
16-3786802-T-C c.4409A>G p.H1470R Missense 27/31 - 1
16-3786806-CCT-C c.4404_4405del p.G1469Afs*9 Frameshift 27/31 - 1
16-3786809-TCA-T c.4400_4401del p.V1467Dfs*11 Frameshift 27/31 - 1
16-3788555-C-A c.4394+5G>T - IntronicSNV - 26/30 1
16-3788560-C-T c.4394G>A p.G1465E Missense 26/31 - 1
16-3788561-C-T c.4393G>A p.G1465R Missense 26/31 - 1
16-3788581-A-C c.4373T>G p.L1458* Nonsense 26/31 - 1
16-3788581-A-T c.4373T>A p.L1458* Nonsense 26/31 - 1
16-3788591-T-C c.4363A>G p.I1455V Missense 26/31 - 1
16-3788593-A-T c.4361T>A p.L1454H Missense 26/31 - 1
16-3788596-A-T c.4358T>A p.I1453N Missense 26/31 - 1
16-3788604-G-T c.4350C>A p.Y1450* Nonsense 26/31 - 1
16-3788605-T-C c.4349A>G p.Y1450C Missense 26/31 - 6
16-3788606-A-C c.4348T>G p.Y1450D Missense 26/31 - 3
16-3788606-A-T c.4348T>A p.Y1450N Missense 26/31 - 2
16-3788614-G-A c.4340C>T p.T1447I Missense 26/31 - 4
16-3788615-T-C c.4339A>G p.T1447A Missense 26/31 - 1
16-3788615-T-G c.4339A>C p.T1447P Missense 26/31 - 1
16-3788617-C-A c.4337G>T p.R1446L Missense 26/31 - 2
16-3788617-C-G c.4337G>C p.R1446P Missense 26/31 - 1
16-3788617-C-T c.4337G>A p.R1446H Missense 26/31 - 21
16-3788618-CGGAGGCAA-C c.4329_4336del p.C1444Hfs*6 Frameshift 26/31 - 1
16-3788618-G-A c.4336C>T p.R1446C Missense 26/31 - 35
16-3788618-G-C c.4336C>G p.R1446G Missense 26/31 - 1
16-3788620-A-C c.4334T>G p.L1445R Missense 26/31 - 1
16-3788621-G-A c.4333C>T p.L1445F Missense 26/31 - 1
16-3788626-C-A c.4328G>T p.R1443L Missense 26/31 - 1
16-3788626-C-T c.4328G>A p.R1443H Missense 26/31 - 1
16-3788628-T-C c.4326A>G p.P1442= Synonymous 26/31 - 1
16-3788632-C-T c.4322G>A p.R1441Q Missense 26/31 - 1
16-3788637-G-T c.4317C>A p.F1439L Missense 26/31 - 1
16-3788642-G-C c.4312C>G p.H1438D Missense 26/31 - 2
16-3788643-AAT-TTA c.4309_4311delinsTAA p.I1437* Nonsense 26/31 - 1
16-3788646-A-C c.4308T>G p.S1436R Missense 26/31 - 1
16-3788647-C-T c.4307G>A p.S1436N Missense 26/31 - 2
16-3788648-T-A c.4306A>T p.S1436C Missense 26/31 - 2
16-3788649-A-C c.4305T>G p.D1435E Missense 26/31 - 5
16-3788649-A-T c.4305T>A p.D1435E Missense 26/31 - 4
16-3788650-T-C c.4304A>G p.D1435G Missense 26/31 - 5
16-3788651-C-A c.4303G>T p.D1435Y Missense 26/31 - 2
16-3788651-C-G c.4303G>C p.D1435H Missense 26/31 - 1
16-3788651-C-T c.4303G>A p.D1435N Missense 26/31 - 7
16-3788652-C-T c.4302G>A p.L1434= Synonymous 26/31 - 1
16-3788653-A-G c.4301T>C p.L1434P Missense 26/31 - 1
16-3788653-A-T c.4301T>A p.L1434Q Missense 26/31 - 1
16-3788656-T-C c.4298A>G p.Y1433C Missense 26/31 - 1
16-3788659-G-T c.4295C>A p.S1432Y Missense 26/31 - 1
16-3788660-A-G c.4294T>C p.S1432P Missense 26/31 - 2
16-3788665-T-A c.4289A>T p.Y1430F Missense 26/31 - 1
16-3788666-A-C c.4288T>G p.Y1430D Missense 26/31 - 1
16-3788666-A-G c.4288T>C p.Y1430H Missense 26/31 - 1
16-3788684-G-C c.4281-11C>G - IntronicSNV - 25/30 1
16-3788684-G-T c.4281-11C>A - IntronicSNV - 25/30 1
16-3789077-C-T c.4281-404G>A - IntronicSNV - 25/30 1
16-3789537-G-A c.4280+42C>T - IntronicSNV - 25/30 2
16-3789537-G-C c.4280+42C>G - IntronicSNV - 25/30 1
16-3789579-C-T c.4280G>A p.R1427K Missense 25/31 - 1
16-3789582-G-A c.4277C>T p.T1426M Missense 25/31 - 1
16-3789582-G-C c.4277C>G p.T1426R Missense 25/31 - 1
16-3789584-G-C c.4275C>G p.N1425K Missense 25/31 - 1
16-3789584-G-T c.4275C>A p.N1425K Missense 25/31 - 1
16-3789591-G-T c.4268C>A p.P1423H Missense 25/31 - 1
16-3789590-AG-A c.4268del p.P1423Lfs*36 Frameshift 25/31 - 1
16-3789596-G-T c.4263C>A p.C1421* Nonsense 25/31 - 1
16-3789597-C-A c.4262G>T p.C1421F Missense 25/31 - 1
16-3789597-C-T c.4262G>A p.C1421Y Missense 25/31 - 3
16-3789615-T-C c.4244A>G p.Q1415R Missense 25/31 - 2
16-3789619-C-T c.4240G>A p.V1414I Missense 25/31 - 2
16-3789627-C-A c.4232G>T p.G1411V Missense 25/31 - 2
16-3789627-C-T c.4232G>A p.G1411E Missense 25/31 - 5
16-3789628-C-G c.4231G>C p.G1411R Missense 25/31 - 1
16-3789628-C-T c.4231G>A p.G1411R Missense 25/31 - 3
16-3789629-AA-TT c.4229_4230inv p.F1410* Nonsense 25/31 - 1
16-3789628-CA-C c.4230del p.F1410Lfs*49 Frameshift 25/31 - 1
16-3789635-G-C c.4224C>G p.C1408W Missense 25/31 - 2
16-3789636-C-T c.4223G>A p.C1408Y Missense 25/31 - 2
16-3789640-C-T c.4219G>A p.V1407I Missense 25/31 - 1
16-3789643-C-A c.4216G>T p.D1406Y Missense 25/31 - 1
16-3789646-C-A c.4213G>T p.V1405L Missense 25/31 - 1
16-3789646-C-T c.4213G>A p.V1405M Missense 25/31 - 1
16-3789647-G-GGGCC c.4211_4212insGGCC p.V1405Afs*17 Frameshift 25/31 - 1
16-3789661-C-G c.4198G>C p.E1400Q Missense 25/31 - 1
16-3789666-GCAAA-G c.4189_4192del p.F1397Lfs*61 Frameshift 25/31 - 1
16-3789671-C-T c.4188G>A p.L1396= Synonymous 25/31 - 1
16-3789675-G-A c.4184C>T p.A1395V Missense 25/31 - 1
16-3789681-G-T c.4178C>A p.T1393N Missense 25/31 - 1
16-3789681-GT-CA c.4177_4178delinsTG p.T1393C Missense 25/31 - 1
16-3789684-C-T c.4175G>A p.R1392Q Missense 25/31 - 1
16-3789685-G-A c.4174C>T p.R1392* Nonsense 25/31 - 4
16-3789691-G-C c.4168C>G p.P1390A Missense 25/31 - 1
16-3789696-G-C c.4163C>G p.S1388C Missense 25/31 - 1
16-3789704-C-A c.4155G>T p.M1385I Missense 25/31 - 1
16-3789704-C-G c.4155G>C p.M1385I Missense 25/31 - 1
16-3789704-C-T c.4155G>A p.M1385I Missense 25/31 - 1
16-3789711-C-A c.4148G>T p.G1383V Missense 25/31 - 1
16-3789711-C-T c.4148G>A p.G1383E Missense 25/31 - 1
16-3789716-A-C c.4143T>G p.D1381E Missense 25/31 - 1
16-3789716-A-T c.4143T>A p.D1381E Missense 25/31 - 1
16-3789725-C-A c.4134G>T p.R1378= Synonymous 25/31 - 2
16-3790186-G-T c.4133+214C>A - IntronicSNV - 24/30 3
16-3790307-T-C c.4133+93A>G - IntronicSNV - 24/30 1
16-3790400-C-G c.4133G>C p.R1378P Missense 24/31 - 1
16-3790400-C-T c.4133G>A p.R1378Q Missense 24/31 - 1
16-3790404-A-G c.4129T>C p.S1377P Missense 24/31 - 1
16-3790411-CCC-GCT c.4120_4122delinsAGC p.G1374S Missense 24/31 - 1
16-3790413-C-A c.4120G>T p.G1374W Missense 24/31 - 1
16-3790415-G-T c.4118C>A p.P1373H Missense 24/31 - 1
16-3790421-A-T c.4112T>A p.V1371D Missense 24/31 - 1
16-3790423-C-T c.4110G>A p.E1370= Synonymous 24/31 - 1
16-3790430-G-A c.4103C>T p.T1368M Missense 24/31 - 1
16-3790436-T-A c.4097A>T p.D1366V Missense 24/31 - 1
16-3790454-C-G c.4079G>C p.R1360P Missense 24/31 - 1
16-3790454-C-T c.4079G>A p.R1360Q Missense 24/31 - 1
16-3790455-G-A c.4078C>T p.R1360* Nonsense 24/31 - 6
16-3790470-C-T c.4063G>A p.G1355R Missense 24/31 - 1
16-3790478-G-A c.4055C>T p.P1352L Missense 24/31 - 1
16-3790479-G-A c.4054C>T p.P1352S Missense 24/31 - 1
16-3790479-G-C c.4054C>G p.P1352A Missense 24/31 - 1
16-3790480-G-C c.4053C>G p.H1351Q Missense 24/31 - 1
16-3790480-G-T c.4053C>A p.H1351Q Missense 24/31 - 1
16-3790490-C-T c.4043G>A p.R1348H Missense 24/31 - 2
16-3790491-G-A c.4042C>T p.R1348C Missense 24/31 - 1
16-3790494-G-A c.4039C>T p.R1347W Missense 24/31 - 2
16-3790498-A-C c.4035T>G p.F1345L Missense 24/31 - 1
16-3790498-A-T c.4035T>A p.F1345L Missense 24/31 - 1
16-3790500-A-G c.4033T>C p.F1345L Missense 24/31 - 1
16-3790512-G-A c.4021C>T p.R1341* Nonsense 24/31 - 3
16-3790532-A-C c.4001T>G p.L1334R Missense 24/31 - 1
16-3790533-G-C c.4000C>G p.L1334V Missense 24/31 - 1
16-3790533-G-T c.4000C>A p.L1334M Missense 24/31 - 1
16-3790546-C-A c.3987G>T p.L1329= Synonymous 24/31 - 1
16-3790547-CAG-C c.3985_3986del p.L1329Afs*24 Frameshift 24/31 - 1
16-3790548-G-A c.3985C>T p.L1329= Synonymous 24/31 - 1
16-3791261-A-C c.3983-711T>G - IntronicSNV - 23/30 4
16-3791261-A-G c.3983-711T>C - IntronicSNV - 23/30 4
16-3794890-C-T c.3982+5G>A - IntronicSNV - 23/30 1
16-3794896-C-A c.3981G>T p.K1327N Missense 23/31 - 1
16-3794896-C-G c.3981G>C p.K1327N Missense 23/31 - 1
16-3794910-T-A c.3967A>T p.K1323* Nonsense 23/31 - 1
16-3794910-T-TA c.3966_3967insT p.K1323* Nonsense 23/31 - 1
16-3794916-C-A c.3961G>T p.E1321* Nonsense 23/31 - 1
16-3794918-T-C c.3959A>G p.K1320R Missense 23/31 - 1
16-3794921-C-T c.3956G>A p.R1319Q Missense 23/31 - 1
16-3794922-G-A c.3955C>T p.R1319* Nonsense 23/31 - 2
16-3795277-C-A c.3914+1G>T - IntronicSNV - 22/30 1
16-3795292-G-A c.3900C>T p.I1300= Synonymous 22/31 - 2
16-3795292-G-T c.3900C>A p.I1300= Synonymous 22/31 - 1
16-3795310-G-A c.3882C>T p.C1294= Synonymous 22/31 - 1
16-3795318-G-A c.3874C>T p.Q1292* Nonsense 22/31 - 1
16-3795329-C-T c.3863G>A p.R1288Q Missense 22/31 - 1
16-3795336-A-C c.3856T>G p.C1286G Missense 22/31 - 1
16-3795345-A-G c.3847T>C p.C1283R Missense 22/31 - 1
16-3795348-CA-C c.3843del p.D1282Ifs*31 Frameshift 22/31 - 1
16-3795352-CG-C c.3840del p.F1280Lfs*33 Frameshift 22/31 - 1
16-3795354-A-AC c.3837_3838insG p.F1280Vfs*3 SpliceAcceptorInsertion 22/31 - 1
16-3795354-A-AG c.3837_3838insC p.F1280Lfs*3 SpliceAcceptorInsertion 22/31 - 1
16-3795354-A-AT c.3837_3838insA p.F1280Ifs*3 SpliceAcceptorInsertion 22/31 - 1
16-3795363-G-A c.3837-8C>T - IntronicSNV - 21/30 5
16-3796147-T-C c.3837-792A>G - IntronicSNV - 21/30 5
16-3799623-C-G c.3836+5G>C - IntronicSNV - 21/30 1
16-3799623-C-T c.3836+5G>A - IntronicSNV - 21/30 1
16-3799627-C-T c.3836+1G>A - IntronicSNV - 21/30 2
16-3799628-G-A c.3836C>T p.P1279L Missense 21/31 - 1
16-3799632-C-T c.3832G>A p.E1278K Missense 21/31 - 6
16-3799648-A-AT c.3815dup p.N1272Kfs*2 Frameshift 21/31 - 1
16-3799661-T-A c.3803A>T p.E1268V Missense 21/31 - 1
16-3800545-T-C c.3780-861A>G - IntronicSNV - 20/30 1
16-3801649-T-C c.3779+78A>G - IntronicSNV - 20/30 1
16-3801722-C-G c.3779+5G>C - IntronicSNV - 20/30 1
16-3801724-T-A c.3779+3A>T - IntronicSNV - 20/30 1
16-3801725-A-G c.3779+2T>C - IntronicSNV - 20/30 1
16-3801726-AC-A c.3779+1del - IntronicDeletion - 20/30 1
16-3801726-C-A c.3779+1G>T - IntronicSNV - 20/30 4
16-3801726-C-T c.3779+1G>A - IntronicSNV - 20/30 9
16-3801731-G-A c.3775C>T p.Q1259* Nonsense 20/31 - 1
16-3801746-C-T c.3760G>A p.D1254N Missense 20/31 - 1
16-3801763-ATTCTC-A c.3739_3743del p.E1247Cfs*5 Frameshift 20/31 - 1
16-3801767-C-A c.3739G>T p.E1247* Nonsense 20/31 - 2
16-3801771-C-A c.3735G>T p.Q1245H Missense 20/31 - 1
16-3801771-C-G c.3735G>C p.Q1245H Missense 20/31 - 1
16-3801771-C-CT c.3734dup p.E1247Rfs*7 Frameshift 20/31 - 1
16-3801772-T-TG c.3733dup p.Q1245Pfs*9 Frameshift 20/31 - 1
16-3801775-ATC-A c.3729_3730del p.E1243Dfs*10 Frameshift 20/31 - 1
16-3801781-G-A c.3725C>T p.T1242I Missense 20/31 - 1
16-3801788-A-G c.3718T>C p.C1240R Missense 20/31 - 2
16-3801790-CTT-C c.3715_3716del p.K1239Vfs*14 Frameshift 20/31 - 1
16-3801796-C-T c.3710G>A p.C1237Y Missense 20/31 - 2
16-3801804-A-AT c.3701dup p.Y1234* SpliceAcceptorInsertion 20/31 - 1
16-3801807-C-G c.3699G>C p.R1233S Missense 20/31 - 1
16-3801839-T-A c.3699-32A>T - IntronicSNV - 19/30 1
16-3803737-A-G c.3699-1930T>C - IntronicSNV - 19/30 1
16-3804241-T-C c.3699-2434A>G - IntronicSNV - 19/30 1
16-3807165-A-G c.3698+124T>C - IntronicSNV - 19/30 1
16-3807167-A-G c.3698+122T>C - IntronicSNV - 19/30 1
16-3807282-C-T c.3698+7G>A - IntronicSNV - 19/30 1
16-3807288-C-T c.3698+1G>A - IntronicSNV - 19/30 1
16-3807294-C-CT c.3692dup p.N1232Efs*2 Frameshift 19/31 - 1
16-3807296-G-A c.3691C>T p.Q1231* Nonsense 19/31 - 1
16-3807306-G-C c.3681C>G p.Y1227* Nonsense 19/31 - 1
16-3807311-C-T c.3676G>A p.A1226T Missense 19/31 - 1
16-3807317-C-A c.3670G>T p.D1224Y Missense 19/31 - 1
16-3807323-G-A c.3664C>T p.P1222S Missense 19/31 - 1
16-3807330-A-T c.3657T>A p.C1219* Nonsense 19/31 - 1
16-3807338-G-A c.3649C>T p.Q1217* Nonsense 19/31 - 1
16-3807344-C-A c.3643G>T p.G1215W Missense 19/31 - 1
16-3807346-T-C c.3641A>G p.Y1214C Missense 19/31 - 1
16-3807349-C-A c.3638G>T p.C1213F Missense 19/31 - 1
16-3807364-G-T c.3623C>A p.P1208Q Missense 19/31 - 1
16-3807365-G-A c.3622C>T p.P1208S Missense 19/31 - 1
16-3807363-T-TG c.3623dup p.Q1209Tfs*25 Frameshift 19/31 - 1
16-3807374-C-A c.3613G>T p.E1205* Nonsense 19/31 - 1
16-3807376-T-A c.3611A>T p.Y1204F Missense 19/31 - 2
16-3807376-T-C c.3611A>G p.Y1204C Missense 19/31 - 2
16-3807805-CTGTA-C c.3609+2_3609+5del - IntronicDeletion - 18/30 1
16-3807809-C-A c.3609+1G>T - IntronicSNV - 18/30 1
16-3807809-C-T c.3609+1G>A - IntronicSNV - 18/30 1
16-3807810-C-G c.3609G>C p.K1203N Missense 18/31 - 1
16-3807811-T-C c.3608A>G p.K1203R Missense 18/31 - 1
16-3807820-C-T c.3599G>A p.C1200Y Missense 18/31 - 1
16-3807845-C-A c.3574G>T p.V1192F Missense 18/31 - 1
16-3807853-A-C c.3566T>G p.I1189S Missense 18/31 - 1
16-3807856-T-A c.3563A>T p.E1188V Missense 18/31 - 1
16-3807872-C-CGG c.3546_3547insCC p.E1183Pfs*68 Frameshift 18/31 - 1
16-3807877-A-G c.3542T>C p.L1181P Missense 18/31 - 1
16-3807894-A-C c.3525T>G p.Y1175* Nonsense 18/31 - 1
16-3807894-A-T c.3525T>A p.Y1175* Nonsense 18/31 - 1
16-3807895-T-C c.3524A>G p.Y1175C Missense 18/31 - 2
16-3807901-C-T c.3518G>A p.R1173Q Missense 18/31 - 1
16-3807902-G-A c.3517C>T p.R1173* Nonsense 18/31 - 6
16-3807914-G-A c.3505C>T p.R1169C Missense 18/31 - 2
16-3807916-TT-AA c.3502_3503inv p.N1168F Missense 18/31 - 3
16-3807924-CC-AA c.3494_3495delinsTT p.W1165F Missense 18/31 - 1
16-3807925-C-T c.3494G>A p.W1165* Nonsense 18/31 - 1
16-3807928-G-A c.3491C>T p.A1164V Missense 18/31 - 1
16-3807929-C-G c.3490G>C p.A1164P Missense 18/31 - 1
16-3807935-T-C c.3484A>G p.N1162D Missense 18/31 - 1
16-3807939-C-G c.3480G>C p.M1160I Missense 18/31 - 1
16-3807945-CC-AA c.3473_3474delinsTT p.W1158F Missense 18/31 - 1
16-3807945-C-T c.3474G>A p.W1158* Nonsense 18/31 - 3
16-3807951-G-A c.3468C>T p.D1156= Synonymous 18/31 - 1
16-3807954-G-A c.3465C>T p.D1155= Synonymous 18/31 - 1
16-3807960-G-C c.3459C>G p.Y1153* Nonsense 18/31 - 1
16-3807965-G-A c.3454C>T p.Q1152* Nonsense 18/31 - 1
16-3807966-CC-AA c.3452_3453delinsTT p.W1151F Missense 18/31 - 1
16-3807967-C-T c.3452G>A p.W1151* Nonsense 18/31 - 1
16-3807977-G-A c.3442C>T p.Q1148* Nonsense 18/31 - 1
16-3807985-C-A c.3434G>T p.G1145V Missense 18/31 - 1
16-3807998-T-G c.3421A>C p.K1141Q Missense 18/31 - 1
16-3808000-C-T c.3419G>A p.R1140Q Missense 18/31 - 1
16-3808001-G-A c.3418C>T p.R1140W Missense 18/31 - 1
16-3808009-G-A c.3410C>T p.T1137I Missense 18/31 - 1
16-3808016-G-A c.3403C>T p.L1135F Missense 18/31 - 1
16-3808023-G-A c.3396C>T p.P1132= Synonymous 18/31 - 1
16-3808024-G-A c.3395C>T p.P1132L Missense 18/31 - 1
16-3808032-T-C c.3387A>G p.V1129= Synonymous 18/31 - 1
16-3808034-C-A c.3385G>T p.V1129L Missense 18/31 - 1
16-3808034-C-G c.3385G>C p.V1129L Missense 18/31 - 1
16-3808039-GT-G c.3380del p.D1127Afs*3 Frameshift 18/31 - 1
16-3808044-A-C c.3375T>G p.Y1125* Nonsense 18/31 - 1
16-3808044-A-T c.3375T>A p.Y1125* Nonsense 18/31 - 1
16-3808045-T-C c.3374A>G p.Y1125C Missense 18/31 - 3
16-3808046-A-G c.3373T>C p.Y1125H Missense 18/31 - 1
16-3808853-A-C c.3369+2T>G - IntronicSNV - 17/30 1
16-3808854-C-T c.3369+1G>A - IntronicSNV - 17/30 1
16-3808857-G-A c.3367C>T p.P1123S Missense 17/31 - 1
16-3808862-CC-GT c.3361_3362delinsAC p.G1121T Missense 17/31 - 1
16-3808883-G-A c.3341C>T p.P1114L Missense 17/31 - 1
16-3808885-C-CTAGG c.3338_3339insCCTA p.Q1113Hfs*16 Frameshift 17/31 - 1
16-3808890-G-A c.3334C>T p.R1112W Missense 17/31 - 1
16-3808895-G-A c.3329C>T p.P1110L Missense 17/31 - 2
16-3808895-G-T c.3329C>A p.P1110H Missense 17/31 - 1
16-3808901-G-A c.3323C>T p.S1108L Missense 17/31 - 1
16-3808905-C-A c.3319G>T p.E1107* Nonsense 17/31 - 1
16-3808911-C-G c.3313G>C p.D1105H Missense 17/31 - 1
16-3808911-C-T c.3313G>A p.D1105N Missense 17/31 - 1
16-3808914-G-A c.3310C>T p.Q1104* Nonsense 17/31 - 1
16-3808917-G-A c.3307C>T p.R1103* Nonsense 17/31 - 2
16-3808918-A-T c.3306T>A p.Y1102* Nonsense 17/31 - 1
16-3808929-C-T c.3295G>A p.E1099K Missense 17/31 - 1
16-3808941-T-A c.3283A>T p.M1095L Missense 17/31 - 1
16-3808950-G-A c.3274C>T p.Q1092* Nonsense 17/31 - 4
16-3808950-G-T c.3274C>A p.Q1092K Missense 17/31 - 1
16-3808955-A-C c.3269T>G p.L1090* Nonsense 17/31 - 1
16-3808955-A-T c.3269T>A p.L1090* Nonsense 17/31 - 1
16-3811556-A-C c.3251-2583T>G - IntronicSNV - 16/30 5
16-3811556-A-G c.3251-2583T>C - IntronicSNV - 16/30 5
16-3811596-C-T c.3251-2623G>A - IntronicSNV - 16/30 1
16-3817721-T-TA c.3249_3250insT p.I1084Yfs*3 SpliceDonorInsertion 16/31 - 1
16-3817721-T-TC c.3249_3250insG p.I1084Dfs*3 SpliceDonorInsertion 16/31 - 1
16-3817721-T-TG c.3249_3250insC p.I1084Hfs*3 SpliceDonorInsertion 16/31 - 1
16-3817720-C-CT c.3250dup p.I1084Nfs*3 SpliceDonorInsertion 16/31 - 1
16-3817720-CT-C c.3250del p.I1084Sfs*15 Frameshift 16/31 - 1
16-3817734-C-A c.3237G>T p.Q1079H Missense 16/31 - 1
16-3817734-C-G c.3237G>C p.Q1079H Missense 16/31 - 1
16-3817736-G-A c.3235C>T p.Q1079* Nonsense 16/31 - 1
16-3817738-GA-TG c.3232_3233delinsCA p.S1078Q Missense 16/31 - 1
16-3817760-C-T c.3211G>A p.A1071T Missense 16/31 - 1
16-3817761-CT-C c.3210del p.A1071Pfs*28 Frameshift 16/31 - 1
16-3817765-C-T c.3206G>A p.G1069D Missense 16/31 - 2
16-3817781-C-A c.3190G>T p.E1064* Nonsense 16/31 - 1
16-3817785-TTCCTC-T c.3181_3185del p.E1061Rfs*4 Frameshift 16/31 - 1
16-3817787-C-T c.3184G>A p.E1062K Missense 16/31 - 1
16-3817790-C-G c.3181G>C p.E1061Q Missense 16/31 - 1
16-3817793-T-A c.3178A>T p.K1060* Nonsense 16/31 - 1
16-3817802-ACTTTCACT-A c.3162_3169del p.E1054Dfs*4 Frameshift 16/31 - 1
16-3817811-C-A c.3160G>T p.E1054* Nonsense 16/31 - 1
16-3817813-G-A c.3158C>T p.P1053L Missense 16/31 - 1
16-3817814-G-A c.3157C>T p.P1053S Missense 16/31 - 1
16-3817823-C-T c.3148G>A p.E1050K Missense 16/31 - 1
16-3817831-T-TC c.3139dup p.E1047Gfs*4 Frameshift 16/31 - 1
16-3817835-T-C c.3136A>G p.M1046V Missense 16/31 - 1
16-3817841-C-T c.3130G>A p.E1044K Missense 16/31 - 1
16-3817843-G-C c.3128C>G p.S1043* Nonsense 16/31 - 1
16-3817846-T-G c.3125A>C p.K1042T Missense 16/31 - 1
16-3817850-G-A c.3121C>T p.Q1041* Nonsense 16/31 - 4
16-3817864-G-T c.3107C>A p.T1036K Missense 16/31 - 1
16-3817874-TTAACTTGGG-T c.3089_3097del p.S1030_K1033delins* MultiAAMissense 16/31 - 1
16-3817874-T-TA c.3096dup p.K1033* Nonsense 16/31 - 1
16-3817880-G-A c.3091C>T p.Q1031* Nonsense 16/31 - 2
16-3817888-C-T c.3083G>A p.G1028E Missense 16/31 - 1
16-3817892-G-A c.3079C>T p.Q1027* Nonsense 16/31 - 1
16-3817904-C-T c.3067G>A p.E1023K Missense 16/31 - 1
16-3819206-G-A c.3029C>T p.P1010L Missense 15/31 - 2
16-3819207-G-GTT c.3027_3028insAA p.P1010Nfs*13 Frameshift 15/31 - 1
16-3819219-T-TG c.3015dup p.T1006Hfs*2 Frameshift 15/31 - 1
16-3819231-G-A c.3004C>T p.Q1002* Nonsense 15/31 - 1
16-3819236-TC-AT c.2998_2999delinsAT p.E1000M Missense 15/31 - 1
16-3819240-T-C c.2995A>G p.T999A Missense 15/31 - 2
16-3819249-C-A c.2986G>T p.E996* Nonsense 15/31 - 1
16-3819260-A-G c.2975T>C p.V992A Missense 15/31 - 1
16-3819261-C-T c.2974G>A p.V992I Missense 15/31 - 1
16-3819294-C-T c.2941G>A p.A981T Missense 15/31 - 4
16-3819312-G-A c.2923C>T p.P975S Missense 15/31 - 1
16-3819314-G-T c.2921C>A p.T974N Missense 15/31 - 1
16-3819318-G-T c.2917C>A p.P973T Missense 15/31 - 1
16-3819321-C-CTT c.2913_2914insAA p.V972Kfs*27 Frameshift 15/31 - 1
16-3820481-A-G c.2880+90T>C - IntronicSNV - 14/30 1
16-3820572-G-A c.2879C>T p.P960L Missense 14/31 - 1
16-3820573-G-T c.2878C>A p.P960T Missense 14/31 - 1
16-3820578-C-T c.2873G>A p.G958D Missense 14/31 - 1
16-3820588-G-A c.2863C>T p.Q955* Nonsense 14/31 - 2
16-3820602-G-A c.2849C>T p.T950M Missense 14/31 - 1
16-3820606-G-A c.2845C>T p.P949S Missense 14/31 - 1
16-3820609-G-A c.2842C>T p.Q948* Nonsense 14/31 - 1
16-3820612-G-A c.2839C>T p.Q947* Nonsense 14/31 - 1
16-3820624-G-A c.2827C>T p.Q943* Nonsense 14/31 - 1
16-3820638-G-A c.2813C>T p.S938F Missense 14/31 - 1
16-3820641-G-T c.2810C>A p.P937Q Missense 14/31 - 1
16-3820648-G-A c.2803C>T p.Q935* Nonsense 14/31 - 1
16-3820666-G-A c.2785C>T p.Q929* Nonsense 14/31 - 1
16-3820667-C-A c.2784G>T p.P928= Synonymous 14/31 - 1
16-3820667-C-G c.2784G>C p.P928= Synonymous 14/31 - 1
16-3820667-C-T c.2784G>A p.P928= Synonymous 14/31 - 2
16-3820669-G-C c.2782C>G p.P928A Missense 14/31 - 1
16-3820673-TCACCTG-T c.2773_2778del p.Q925_V926del InFrameDeletion 14/31 - 1
16-3820677-T-A c.2774A>T p.Q925L Missense 14/31 - 1
16-3820677-T-C c.2774A>G p.Q925R Missense 14/31 - 1
16-3820678-G-A c.2773C>T p.Q925* Nonsense 14/31 - 1
16-3820683-T-C c.2768A>G p.Q923R Missense 14/31 - 1
16-3820692-G-T c.2759C>A p.A920E Missense 14/31 - 1
16-3820693-C-G c.2758G>C p.A920P Missense 14/31 - 1
16-3820694-C-G c.2757G>C p.Q919H Missense 14/31 - 1
16-3820696-G-A c.2755C>T p.Q919* Nonsense 14/31 - 1
16-3820704-G-A c.2747C>T p.P916L Missense 14/31 - 1
16-3820708-T-C c.2743A>G p.T915A Missense 14/31 - 1
16-3820721-GG-CA c.2729_2730delinsTG p.T910M Missense 14/31 - 1
16-3820723-T-C c.2728A>G p.T910A Missense 14/31 - 4
16-3820765-C-G c.2686G>C p.G896R Missense 14/31 - 1
16-3820765-C-T c.2686G>A p.G896R Missense 14/31 - 1
16-3820767-G-A c.2684C>T p.S895F Missense 14/31 - 1
16-3820773-G-A c.2678C>T p.S893L Missense 14/31 - 4
16-3820773-G-T c.2678C>A p.S893* Nonsense 14/31 - 1
16-3820785-G-A c.2666C>T p.S889L Missense 14/31 - 1
16-3820789-G-A c.2662C>T p.P888S Missense 14/31 - 1
16-3820792-G-A c.2659C>T p.Q887* Nonsense 14/31 - 2
16-3820807-G-C c.2644C>G p.P882A Missense 14/31 - 1
16-3820810-G-A c.2641C>T p.Q881* Nonsense 14/31 - 1
16-3820816-G-A c.2635C>T p.P879S Missense 14/31 - 1
16-3820819-T-C c.2632A>G p.T878A Missense 14/31 - 1
16-3820825-C-T c.2626G>A p.G876R Missense 14/31 - 1
16-3820828-G-A c.2623C>T p.P875S Missense 14/31 - 1
16-3820829-TG-T c.2621del p.P874Hfs*4 Frameshift 14/31 - 1
16-3820831-G-A c.2620C>T p.P874S Missense 14/31 - 1
16-3820834-T-TC c.2616dup p.T873Dfs*97 Frameshift 14/31 - 2
16-3820843-G-A c.2608C>T p.Q870* Nonsense 14/31 - 1
16-3820866-G-T c.2585C>A p.T862K Missense 14/31 - 1
16-3820867-T-C c.2584A>G p.T862A Missense 14/31 - 1
16-3820872-G-A c.2579C>T p.A860V Missense 14/31 - 1
16-3820879-G-A c.2572C>T p.P858S Missense 14/31 - 1
16-3820892-C-G c.2559G>C p.L853= Synonymous 14/31 - 1
16-3820899-G-A c.2552C>T p.S851L Missense 14/31 - 1
16-3820903-G-A c.2548C>T p.Q850* Nonsense 14/31 - 1
16-3820912-G-A c.2539C>T p.P847S Missense 14/31 - 1
16-3820912-G-T c.2539C>A p.P847T Missense 14/31 - 1
16-3820921-G-C c.2530C>G p.P844A Missense 14/31 - 1
16-3820927-G-A c.2524C>T p.Q842* Nonsense 14/31 - 1
16-3820936-G-A c.2515C>T p.Q839* Nonsense 14/31 - 1
16-3820936-TGAGGCCC-T c.2509_2515del p.G837Rfs*10 Frameshift 14/31 - 1
16-3820939-G-T c.2512C>A p.P838T Missense 14/31 - 1
16-3820953-A-AG c.2497dup p.L833Pfs*137 Frameshift 14/31 - 1
16-3820954-AGAGGGTT-A c.2491_2497del p.N831Sfs*16 Frameshift 14/31 - 1
16-3820954-G-A c.2497C>T p.L833F Missense 14/31 - 1
16-3820965-A-C c.2486T>G p.L829R Missense 14/31 - 1
16-3820967-A-AAGAACATAAAATAAAAGGCTGTTGGATGATTCAAGTATTTCAAATATAAGCCAGTATTCTTCATTTCG c.2483_2484insCGAAATGAAGAATACTGGCTTATATTTGAAATACTTGAATCATCCAACAGCCTTTTATTTTATGTTCT p.L829Efs*43 Frameshift 14/31 - 1
16-3820974-C-T c.2477G>A p.G826D Missense 14/31 - 1
16-3820981-ACC-A c.2469_2470del p.Q823Hfs*8 Frameshift 14/31 - 1
16-3820992-C-T c.2464-5G>A - IntronicSNV - 13/30 1
16-3823741-GGGCACAGTACCTGTGACAC-G c.2455_2463+10del - SpliceDonorDeletion 13/31 13/30 1
16-3823754-G-A c.2461C>T p.Q821* Nonsense 13/31 - 1
16-3823756-G-A c.2459C>T p.S820L Missense 13/31 - 1
16-3823756-TG-T c.2459del p.S820Yfs*29 Frameshift 13/31 - 1
16-3823769-G-A c.2446C>T p.Q816* Nonsense 13/31 - 2
16-3823795-C-G c.2420G>C p.S807T Missense 13/31 - 1
16-3823801-G-T c.2414C>A p.A805E Missense 13/31 - 1
16-3823805-C-G c.2410G>C p.G804R Missense 13/31 - 1
16-3823805-C-T c.2410G>A p.G804R Missense 13/31 - 2
16-3823811-GATGAC-G c.2400_2404del p.S801Qfs*29 Frameshift 13/31 - 1
16-3823816-G-A c.2399C>T p.P800L Missense 13/31 - 1
16-3823816-G-T c.2399C>A p.P800Q Missense 13/31 - 1
16-3823829-G-A c.2386C>T p.Q796* Nonsense 13/31 - 1
16-3823835-GA-G c.2379del p.L794Cfs*13 Frameshift 13/31 - 1
16-3823841-G-A c.2374C>T p.Q792* Nonsense 13/31 - 1
16-3823843-C-A c.2372G>T p.S791I Missense 13/31 - 1
16-3823848-AGCGGGC-A c.2361_2366del p.P788_A789del InFrameDeletion 13/31 - 1
16-3823848-AGCGGGCGCCTGG-A c.2355_2366del p.A787_Q790del InFrameDeletion 13/31 - 1
16-3823855-G-A c.2360C>T p.A787V Missense 13/31 - 1
16-3823859-G-A c.2356C>T p.Q786* Nonsense 13/31 - 1
16-3823865-T-C c.2350A>G p.M784V Missense 13/31 - 1
16-3823866-CATGTTGTTGGTGTGTGCACCCATCATGTTCGG-C c.2317_2348del p.P773Dfs*48 Frameshift 13/31 - 1
16-3823861-GCCATCATGTTGTTGGTGTGTGCAC-G c.2330_2353del p.G777_M784del InFrameDeletion 13/31 - 1
16-3823876-G-A c.2339C>T p.T780I Missense 13/31 - 1
16-3823885-C-G c.2330G>C p.G777A Missense 13/31 - 1
16-3823886-C-T c.2329G>A p.G777S Missense 13/31 - 1
16-3823890-C-A c.2325G>T p.M775I Missense 13/31 - 1
16-3823890-C-G c.2325G>C p.M775I Missense 13/31 - 1
16-3823890-C-T c.2325G>A p.M775I Missense 13/31 - 1
16-3823893-GT-G c.2321del p.N774Tfs*2 Frameshift 13/31 - 1
16-3823900-G-A c.2315C>T p.P772L Missense 13/31 - 1
16-3823902-C-G c.2313G>C p.Q771H Missense 13/31 - 1
16-3823903-T-C c.2312A>G p.Q771R Missense 13/31 - 1
16-3823904-G-A c.2311C>T p.Q771* Nonsense 13/31 - 4
16-3823912-CG-TT c.2302_2303delinsAA p.R768K Missense 13/31 - 1
16-3823912-C-T c.2303G>A p.R768Q Missense 13/31 - 1
16-3823912-TC-T c.2303del p.R768Qfs*8 Frameshift 13/31 - 1
16-3823913-G-A c.2302C>T p.R768* Nonsense 13/31 - 4
16-3824571-C-T c.2282G>A p.G761E Missense 12/31 - 1
16-3824575-G-T c.2278C>A p.P760T Missense 12/31 - 1
16-3824593-T-A c.2260A>T p.N754Y Missense 12/31 - 1
16-3824599-TGG-T c.2253_2254del p.Q752Dfs*79 Frameshift 12/31 - 1
16-3824614-T-C c.2239A>G p.M747V Missense 12/31 - 1
16-3824617-G-A c.2236C>T p.P746S Missense 12/31 - 1
16-3824622-G-A c.2231C>T p.A744V Missense 12/31 - 1
16-3824627-ACG-CTT c.2224_2226delinsAAG p.R742K Missense 12/31 - 1
16-3824628-C-G c.2225G>C p.R742P Missense 12/31 - 2
16-3824628-C-T c.2225G>A p.R742H Missense 12/31 - 1
16-3824629-G-A c.2224C>T p.R742C Missense 12/31 - 3
16-3824641-G-A c.2212C>T p.P738S Missense 12/31 - 1
16-3824647-G-A c.2206C>T p.Q736* Nonsense 12/31 - 1
16-3824654-AC-A c.2199del p.Q733Hfs*15 Frameshift 12/31 - 2
16-3824654-C-A c.2199G>T p.Q733H Missense 12/31 - 1
16-3824656-G-A c.2197C>T p.Q733* Nonsense 12/31 - 1
16-3824662-TC-T c.2190del p.N731Tfs*17 Frameshift 12/31 - 1
16-3824662-T-TC c.2190dup p.N731Efs*101 Frameshift 12/31 - 2
16-3824672-C-A c.2181G>T p.M727I Missense 12/31 - 1
16-3824678-G-C c.2175C>G p.N725K Missense 12/31 - 1
16-3824678-G-T c.2175C>A p.N725K Missense 12/31 - 1
16-3824689-T-C c.2164A>G p.N722D Missense 12/31 - 1
16-3827553-G-A c.2158+61C>T - IntronicSNV - 11/30 1
16-3827617-G-C c.2155C>G p.Q719E Missense 11/31 - 1
16-3827631-C-T c.2141G>A p.R714H Missense 11/31 - 2
16-3827632-G-A c.2140C>T p.R714C Missense 11/31 - 1
16-3827640-G-T c.2132C>A p.P711Q Missense 11/31 - 1
16-3827646-G-A c.2126C>T p.S709F Missense 11/31 - 1
16-3827931-T-C c.2113+81A>G - IntronicSNV - 10/30 3
16-3828026-G-C c.2099C>G p.P700R Missense 10/31 - 1
16-3828029-TGTGCCTGTGGAATCACAGGGG-T c.2075_2095del p.P692_A698del InFrameDeletion 10/31 - 1
16-3828050-G-T c.2075C>A p.P692H Missense 10/31 - 1
16-3828051-G-T c.2074C>A p.P692T Missense 10/31 - 2
16-3828052-GC-G c.2073del p.Q691Hfs*4 Frameshift 10/31 - 1
16-3828047-GGGGGCTGAGCCCCC-G c.2064_2077del p.G689Cfs*32 Frameshift 10/31 - 1
16-3828057-C-G c.2068G>C p.A690P Missense 10/31 - 1
16-3828060-C-T c.2065G>A p.G689R Missense 10/31 - 1
16-3828062-G-A c.2063C>T p.P688L Missense 10/31 - 1
16-3828065-G-A c.2060C>T p.A687V Missense 10/31 - 3
16-3828071-A-C c.2054T>G p.L685* Nonsense 10/31 - 1
16-3828071-A-T c.2054T>A p.L685* Nonsense 10/31 - 1
16-3828081-G-A c.2044C>T p.Q682* Nonsense 10/31 - 1
16-3828083-T-TG c.2041_2042insC p.N681Tfs*45 Frameshift 10/31 - 1
16-3828097-T-G c.2028A>C p.Q676H Missense 10/31 - 1
16-3828107-A-C c.2018T>G p.L673* Nonsense 10/31 - 1
16-3828107-A-T c.2018T>A p.L673* Nonsense 10/31 - 1
16-3828115-CCT-ACA c.2008_2010delinsTGT p.R670C Missense 10/31 - 1
16-3828123-T-A c.2002A>T p.K668* Nonsense 10/31 - 1
16-3828123-T-G c.2002A>C p.K668Q Missense 10/31 - 1
16-3828129-C-A c.1996G>T p.E666* Nonsense 10/31 - 1
16-3828131-A-G c.1994T>C p.L665P Missense 10/31 - 1
16-3828139-T-A c.1986A>T p.Q662H Missense 10/31 - 1
16-3828139-T-G c.1986A>C p.Q662H Missense 10/31 - 1
16-3828141-G-A c.1984C>T p.Q662* Nonsense 10/31 - 1
16-3828144-T-C c.1981A>G p.I661V Missense 10/31 - 1
16-3828151-G-C c.1974C>G p.I658M Missense 10/31 - 1
16-3828157-C-A c.1968G>T p.E656D Missense 10/31 - 1
16-3828157-C-G c.1968G>C p.E656D Missense 10/31 - 1
16-3828159-C-G c.1966G>C p.E656Q Missense 10/31 - 1
16-3828162-GCTAATAAGTGATAA-G c.1950_1963del p.Y651Rfs*20 Frameshift 10/31 - 1
16-3828172-A-G c.1953T>C p.Y651= Synonymous 10/31 - 2
16-3828173-T-C c.1952A>G p.Y651C Missense 10/31 - 3
16-3828207-T-C c.1942-24A>G - IntronicSNV - 9/30 1
16-3828348-A-G c.1942-165T>C - IntronicSNV - 9/30 3
16-3828585-G-T c.1941+116C>A - IntronicSNV - 9/30 1
16-3828698-T-A c.1941+3A>T - IntronicSNV - 9/30 1
16-3828695-ACCTAC-A c.1941+1_1941+5del - SpliceDonorDeletion 9/31 9/30 1
16-3828700-C-A c.1941+1G>T - IntronicSNV - 9/30 2
16-3828700-C-T c.1941+1G>A - IntronicSNV - 9/30 1
16-3828712-C-A c.1930G>T p.A644S Missense 9/31 - 1
16-3828718-C-A c.1924G>T p.E642* Nonsense 9/31 - 1
16-3828718-C-T c.1924G>A p.E642K Missense 9/31 - 3
16-3828719-G-C c.1923C>G p.Y641* Nonsense 9/31 - 2
16-3828719-G-T c.1923C>A p.Y641* Nonsense 9/31 - 2
16-3828720-T-A c.1922A>T p.Y641F Missense 9/31 - 12
16-3828720-T-C c.1922A>G p.Y641C Missense 9/31 - 2
16-3828720-T-G c.1922A>C p.Y641S Missense 9/31 - 3
16-3828721-A-G c.1921T>C p.Y641H Missense 9/31 - 3
16-3828721-A-T c.1921T>A p.Y641N Missense 9/31 - 6
16-3828726-T-A c.1916A>T p.D639V Missense 9/31 - 1
16-3828730-C-T c.1912G>A p.G638R Missense 9/31 - 1
16-3828733-C-A c.1909G>T p.E637* Nonsense 9/31 - 1
16-3828740-C-A c.1902G>T p.K634N Missense 9/31 - 1
16-3828740-C-G c.1902G>C p.K634N Missense 9/31 - 1
16-3828744-G-C c.1898C>G p.A633G Missense 9/31 - 1
16-3828764-C-A c.1878G>T p.M626I Missense 9/31 - 1
16-3828764-C-G c.1878G>C p.M626I Missense 9/31 - 1
16-3828764-C-T c.1878G>A p.M626I Missense 9/31 - 1
16-3828769-G-A c.1873C>T p.R625C Missense 9/31 - 1
16-3828771-C-A c.1871G>T p.R624L Missense 9/31 - 1
16-3828787-C-T c.1855G>A p.A619T Missense 9/31 - 1
16-3828790-G-A c.1852C>T p.P618S Missense 9/31 - 1
16-3828814-G-A c.1828C>T p.Q610* Nonsense 9/31 - 1
16-3828817-C-T c.1825G>A p.V609I Missense 9/31 - 1
16-3830645-T-C c.1823+88A>G - IntronicSNV - 8/30 1
16-3830749-G-A c.1807C>T p.H603Y Missense 8/31 - 1
16-3830751-C-A c.1805G>T p.S602I Missense 8/31 - 1
16-3830751-C-T c.1805G>A p.S602N Missense 8/31 - 1
16-3830754-C-T c.1802G>A p.R601Q Missense 8/31 - 3
16-3830755-G-A c.1801C>T p.R601W Missense 8/31 - 2
16-3830760-T-G c.1796A>C p.D599A Missense 8/31 - 1
16-3830766-GTGACATGT-G c.1782_1789del p.E594Dfs*11 Frameshift 8/31 - 1
16-3830769-ACATGTTCGTGCCAGCCTTTCCTTACACCGGTG-A c.1755_1786del p.T586Hfs*11 Frameshift 8/31 - 1
16-3830781-C-T c.1775G>A p.W592* Nonsense 8/31 - 1
16-3830793-TACACC-T c.1759_1763del p.G587Kfs*19 Frameshift 8/31 - 1
16-3830797-C-T c.1759G>A p.G587S Missense 8/31 - 1
16-3830800-T-TA c.1755_1756insT p.T586Yfs*22 Frameshift 8/31 - 1
16-3830806-A-G c.1750T>C p.S584P Missense 8/31 - 1
16-3830809-G-A c.1747C>T p.P583S Missense 8/31 - 1
16-3830812-G-A c.1744C>T p.P582S Missense 8/31 - 1
16-3830817-G-C c.1739C>G p.A580G Missense 8/31 - 1
16-3830823-G-T c.1733C>A p.P578Q Missense 8/31 - 1
16-3830840-TTCC-T c.1714_1716del p.G572del InFrameDeletion 8/31 - 1
16-3830839-TTCCAA-T c.1712_1716del p.I571Nfs*13 Frameshift 8/31 - 1
16-3830840-TC-T c.1715del p.G572Efs*17 Frameshift 8/31 - 1
16-3830842-C-A c.1714G>T p.G572* Nonsense 8/31 - 1
16-3830846-G-GAGTTTATGCACTAGATGGCTCCGCAGGTCCTGAGTGACATGTTCGTGCCAGCCTTTC c.1709_1710insGAAAGGCTGGCACGAACATGTCACTCAGGACCTGCGGAGCCATCTAGTGCATAAACT p.N570delinsKKGWHEHVTQDLRSHLVHKL MultiAAMissense 8/31 - 1
16-3830853-G-C c.1703C>G p.S568C Missense 8/31 - 1
16-3830866-C-T c.1690G>A p.D564N Missense 8/31 - 1
16-3830878-G-A c.1678C>T p.P560S Missense 8/31 - 1
16-3831185-G-C c.1676+20C>G - IntronicSNV - 7/30 1
16-3831187-T-A c.1676+18A>T - IntronicSNV - 7/30 1
16-3831203-A-G c.1676+2T>C - IntronicSNV - 7/30 1
16-3831230-G-T c.1651C>A p.L551I Missense 7/31 - 7
16-3831233-C-T c.1648G>A p.A550T Missense 7/31 - 1
16-3831235-G-T c.1646C>A p.S549* Nonsense 7/31 - 1
16-3831231-AGCTGATTCTGAAATCAAGTTTGGGG-A c.1625_1649del p.P542Lfs*12 Frameshift 7/31 - 1
16-3831263-G-A c.1618C>T p.Q540* Nonsense 7/31 - 1
16-3831265-T-C c.1616A>G p.D539G Missense 7/31 - 1
16-3831266-C-A c.1615G>T p.D539Y Missense 7/31 - 1
16-3831278-C-A c.1603G>T p.G535* Nonsense 7/31 - 1
16-3831281-C-T c.1600G>A p.G534R Missense 7/31 - 1
16-3831289-A-C c.1592T>G p.I531S Missense 7/31 - 1
16-3831290-T-A c.1591A>T p.I531F Missense 7/31 - 1
16-3832375-G-A c.1573+310C>T - IntronicSNV - 6/30 1
16-3832471-A-G c.1573+214T>C - IntronicSNV - 6/30 6
16-3832471-A-T c.1573+214T>A - IntronicSNV - 6/30 5
16-3832653-G-A c.1573+32C>T - IntronicSNV - 6/30 1
16-3832687-CAGGG-C c.1568_1571del p.P523Rfs*6 Frameshift 6/31 - 1
16-3832690-G-T c.1568C>A p.P523H Missense 6/31 - 1
16-3832687-A-AG c.1570dup p.L524Pfs*4 Frameshift 6/31 - 1
16-3832693-T-A c.1565A>T p.N522I Missense 6/31 - 1
16-3832693-T-C c.1565A>G p.N522S Missense 6/31 - 1
16-3832702-C-T c.1556G>A p.R519K Missense 6/31 - 1
16-3832702-CT-TA c.1555_1556delinsTA p.R519* Nonsense 6/31 - 1
16-3832718-T-C c.1540A>G p.T514A Missense 6/31 - 2
16-3832720-T-G c.1538A>C p.Q513P Missense 6/31 - 2
16-3832721-G-T c.1537C>A p.Q513K Missense 6/31 - 1
16-3832724-G-A c.1534C>T p.P512S Missense 6/31 - 1
16-3832719-TTGAGGCTGTGCTGGTTGCTGGCCAGGAACC-T c.1509_1538del p.V504_Q513del InFrameDeletion 6/31 - 1
16-3832745-G-A c.1513C>T p.P505S Missense 6/31 - 1
16-3832748-C-T c.1510G>A p.V504I Missense 6/31 - 1
16-3832750-T-C c.1508A>G p.Q503R Missense 6/31 - 1
16-3832751-G-A c.1507C>T p.Q503* Nonsense 6/31 - 2
16-3832765-G-A c.1493C>T p.T498M Missense 6/31 - 2
16-3832765-G-C c.1493C>G p.T498R Missense 6/31 - 1
16-3832766-T-C c.1492A>G p.T498A Missense 6/31 - 1
16-3832773-C-A c.1485G>T p.Q495H Missense 6/31 - 1
16-3832775-G-A c.1483C>T p.Q495* Nonsense 6/31 - 1
16-3832801-G-C c.1457C>G p.A486G Missense 6/31 - 1
16-3832802-C-T c.1456G>A p.A486T Missense 6/31 - 1
16-3832800-AGCATAGGCTCGCT-A c.1445_1457del p.Q482Lfs*8 Frameshift 6/31 - 1
16-3832811-G-A c.1447C>T p.R483* Nonsense 6/31 - 3
16-3832815-C-A c.1443G>T p.M481I Missense 6/31 - 2
16-3832815-C-G c.1443G>C p.M481I Missense 6/31 - 2
16-3832815-C-T c.1443G>A p.M481I Missense 6/31 - 2
16-3832842-GTTAC-G c.1412_1415del p.S471Tfs*5 Frameshift 6/31 - 1
16-3832849-A-C c.1409T>G p.L470* Nonsense 6/31 - 1
16-3832849-A-T c.1409T>A p.L470* Nonsense 6/31 - 1
16-3832848-TA-T c.1409del p.L470* Frameshift 6/31 - 1
16-3832871-C-G c.1387G>C p.G463R Missense 6/31 - 1
16-3832874-T-C c.1384A>G p.T462A Missense 6/31 - 1
16-3832878-A-C c.1380T>G p.V460= Synonymous 6/31 - 1
16-3832878-A-G c.1380T>C p.V460= Synonymous 6/31 - 1
16-3832878-A-T c.1380T>A p.V460= Synonymous 6/31 - 1
16-3832885-C-A c.1373G>T p.G458V Missense 6/31 - 1
16-3832889-T-C c.1369A>G p.I457V Missense 6/31 - 1
16-3832910-C-T c.1348G>A p.A450T Missense 6/31 - 1
16-3832918-C-A c.1340G>T p.G447V Missense 6/31 - 1
16-3832959-C-A c.1331-32G>T - IntronicSNV - 5/30 2
16-3832959-C-T c.1331-32G>A - IntronicSNV - 5/30 2
16-3834316-T-C c.1331-1389A>G - IntronicSNV - 5/30 1
16-3838298-C-A c.1330+3684G>T - IntronicSNV - 5/30 3
16-3838298-C-T c.1330+3684G>A - IntronicSNV - 5/30 3
16-3839535-T-A c.1330+2447A>T - IntronicSNV - 5/30 1
16-3839535-T-C c.1330+2447A>G - IntronicSNV - 5/30 1
16-3841985-G-A c.1327C>T p.Q443* Nonsense 5/31 - 1
16-3841988-G-A c.1324C>T p.Q442* Nonsense 5/31 - 1
16-3841992-TC-AT c.1319_1320delinsAT p.R440H Missense 5/31 - 1
16-3841993-C-T c.1319G>A p.R440Q Missense 5/31 - 1
16-3841994-G-A c.1318C>T p.R440* Nonsense 5/31 - 2
16-3841996-T-A c.1316A>T p.K439M Missense 5/31 - 1
16-3841997-T-A c.1315A>T p.K439* Nonsense 5/31 - 1
16-3842000-C-T c.1312G>A p.D438N Missense 5/31 - 1
16-3842002-C-G c.1310G>C p.S437T Missense 5/31 - 1
16-3842003-T-C c.1309A>G p.S437G Missense 5/31 - 1
16-3842004-TGGCA-T c.1305_1308del p.N435Kfs*35 Frameshift 5/31 - 1
16-3842016-AG-A c.1295del p.P432Lfs*2 Frameshift 5/31 - 1
16-3842020-A-G c.1292T>C p.L431P Missense 5/31 - 1
16-3842027-C-A c.1285G>T p.V429F Missense 5/31 - 1
16-3842031-A-T c.1281T>A p.C427* Nonsense 5/31 - 1
16-3842030-GAC-G c.1280_1281del p.C427Sfs*11 Frameshift 5/31 - 1
16-3842040-TCG-ACA c.1270_1272delinsTGT p.R424C Missense 5/31 - 1
16-3842042-G-A c.1270C>T p.R424* Nonsense 5/31 - 3
16-3842059-T-C c.1253A>G p.H418R Missense 5/31 - 1
16-3842060-G-T c.1252C>A p.H418N Missense 5/31 - 1
16-3842074-C-T c.1238G>A p.R413Q Missense 5/31 - 4
16-3842075-G-A c.1237C>T p.R413* Nonsense 5/31 - 4
16-3842089-T-G c.1223A>C p.H408P Missense 5/31 - 1
16-3843387-CCT-C c.1215_1216del p.Q405Hfs*21 SpliceDonorDeletion 4/31 - 1
16-3843391-G-C c.1212C>G p.C404W Missense 4/31 - 1
16-3843392-C-T c.1211G>A p.C404Y Missense 4/31 - 1
16-3843395-G-A c.1208C>T p.A403V Missense 4/31 - 1
16-3843407-T-C c.1196A>G p.Q399R Missense 4/31 - 1
16-3843416-G-A c.1187C>T p.T396M Missense 4/31 - 1
16-3843434-TT-AA c.1168_1169inv p.N390F Missense 4/31 - 1
16-3843437-T-C c.1166A>G p.K389R Missense 4/31 - 1
16-3843439-C-A c.1164G>T p.M388I Missense 4/31 - 1
16-3843439-C-G c.1164G>C p.M388I Missense 4/31 - 1
16-3843439-C-T c.1164G>A p.M388I Missense 4/31 - 1
16-3843446-C-T c.1157G>A p.R386Q Missense 4/31 - 2
16-3843449-C-G c.1154G>C p.C385S Missense 4/31 - 1
16-3843450-A-T c.1153T>A p.C385S Missense 4/31 - 1
16-3843460-CG-AA c.1142_1143delinsTT p.S381F Missense 4/31 - 1
16-3843460-C-T c.1143G>A p.S381= Synonymous 4/31 - 2
16-3843461-G-A c.1142C>T p.S381L Missense 4/31 - 1
16-3843463-G-T c.1140C>A p.C380* Nonsense 4/31 - 1
16-3843470-C-T c.1133G>A p.R378Q Missense 4/31 - 1
16-3843471-G-A c.1132C>T p.R378W Missense 4/31 - 2
16-3843476-T-G c.1127A>C p.E376A Missense 4/31 - 1
16-3843480-C-G c.1123G>C p.G375R Missense 4/31 - 1
16-3843480-C-T c.1123G>A p.G375R Missense 4/31 - 1
16-3843485-GCTTGCTCT-G c.1110_1117del p.E371Kfs*53 Frameshift 4/31 - 1
16-3843492-C-A c.1111G>T p.E371* Nonsense 4/31 - 1
16-3843494-C-A c.1109G>T p.R370L Missense 4/31 - 1
16-3843494-C-T c.1109G>A p.R370Q Missense 4/31 - 2
16-3843495-G-A c.1108C>T p.R370* Nonsense 4/31 - 2
16-3843495-G-C c.1108C>G p.R370G Missense 4/31 - 1
16-3843503-C-T c.1100G>A p.C367Y Missense 4/31 - 1
16-3843519-G-T c.1084C>A p.L362I Missense 4/31 - 1
16-3843525-G-A c.1078C>T p.L360= Synonymous 4/31 - 1
16-3843528-C-T c.1075G>A p.V359I Missense 4/31 - 1
16-3843534-G-A c.1069C>T p.Q357* Nonsense 4/31 - 2
16-3843540-G-GT c.1062dup p.Q355Tfs*12 Frameshift 4/31 - 1
16-3843543-T-A c.1060A>T p.I354L Missense 4/31 - 1
16-3843551-C-T c.1052G>A p.R351H Missense 4/31 - 1
16-3843558-C-A c.1045G>T p.E349* Nonsense 4/31 - 1
16-3843558-C-T c.1045G>A p.E349K Missense 4/31 - 1
16-3843561-G-A c.1042C>T p.P348S Missense 4/31 - 1
16-3843561-G-T c.1042C>A p.P348T Missense 4/31 - 1
16-3843569-G-A c.1034C>T p.T345I Missense 4/31 - 1
16-3843573-G-A c.1030C>T p.P344S Missense 4/31 - 1
16-3843588-C-T c.1015G>A p.A339T Missense 4/31 - 1
16-3843590-T-A c.1013A>T p.Q338L Missense 4/31 - 1
16-3843591-G-GT c.1011dup p.Q338Tfs*12 Frameshift 4/31 - 1
16-3843611-G-A c.992C>T p.S331L Missense 4/31 - 1
16-3843611-G-C c.992C>G p.S331* Nonsense 4/31 - 2
16-3843611-G-T c.992C>A p.S331* Nonsense 4/31 - 1
16-3843614-G-T c.989C>A p.T330K Missense 4/31 - 1
16-3843621-T-A c.982A>T p.M328L Missense 4/31 - 1
16-3843621-T-G c.982A>C p.M328L Missense 4/31 - 1
16-3843624-G-A c.979C>T p.Q327* Nonsense 4/31 - 1
16-3850416-G-A c.976-6789C>T - IntronicSNV - 3/30 1
16-3852776-T-C c.975+7828A>G - IntronicSNV - 3/30 1
16-3860604-C-A c.975G>T p.M325I Missense 3/31 - 1
16-3860604-C-G c.975G>C p.M325I Missense 3/31 - 1
16-3860604-C-T c.975G>A p.M325I Missense 3/31 - 1
16-3860611-G-C c.968C>G p.P323R Missense 3/31 - 1
16-3860615-C-G c.964G>C p.V322L Missense 3/31 - 1
16-3860616-G-GT c.962dup p.N321Kfs*29 Frameshift 3/31 - 1
16-3860617-TTGGTGAC-T c.955_961del p.V319Tfs*33 Frameshift 3/31 - 1
16-3860620-G-A c.959C>T p.T320I Missense 3/31 - 1
16-3860621-T-A c.958A>T p.T320S Missense 3/31 - 1
16-3860626-G-A c.953C>T p.S318L Missense 3/31 - 1
16-3860631-TA-T c.948del p.N316Kfs*38 Frameshift 3/31 - 1
16-3860640-A-G c.939T>C p.D313= Synonymous 3/31 - 2
16-3860642-C-A c.937G>T p.D313Y Missense 3/31 - 1
16-3860647-G-C c.932C>G p.P311R Missense 3/31 - 1
16-3860647-G-T c.932C>A p.P311H Missense 3/31 - 1
16-3860657-G-A c.922C>T p.P308S Missense 3/31 - 1
16-3860664-G-C c.915C>G p.N305K Missense 3/31 - 1
16-3860684-T-C c.895A>G p.S299G Missense 3/31 - 1
16-3860686-G-A c.893C>T p.A298V Missense 3/31 - 1
16-3860687-C-T c.892G>A p.A298T Missense 3/31 - 1
16-3860692-TG-T c.886del p.Q296Sfs*2 Frameshift 3/31 - 1
16-3860697-G-GT c.881dup p.N294Kfs*56 Frameshift 3/31 - 1
16-3860701-A-G c.878T>C p.V293A Missense 3/31 - 1
16-3860704-C-A c.875G>T p.G292V Missense 3/31 - 1
16-3860714-C-T c.865G>A p.G289R Missense 3/31 - 2
16-3860717-T-C c.862A>G p.M288V Missense 3/31 - 1
16-3860723-G-A c.856C>T p.Q286* Nonsense 3/31 - 1
16-3860723-G-T c.856C>A p.Q286K Missense 3/31 - 1
16-3860729-C-G c.850G>C p.G284R Missense 3/31 - 1
16-3860729-C-T c.850G>A p.G284R Missense 3/31 - 2
16-3860738-TA-T c.840del p.F280Lfs*14 Frameshift 3/31 - 1
16-3860746-T-G c.833A>C p.Q278P Missense 3/31 - 2
16-3860747-G-T c.832C>A p.Q278K Missense 3/31 - 1
16-3860750-C-A c.829G>T p.G277* Nonsense 3/31 - 1
16-3860755-G-A c.824C>T p.P275L Missense 3/31 - 1
16-3860767-C-T c.812G>A p.G271E Missense 3/31 - 1
16-3860776-C-A c.803G>T p.G268V Missense 3/31 - 1
16-3860778-C-A c.801G>T p.M267I Missense 3/31 - 1
16-3860778-C-G c.801G>C p.M267I Missense 3/31 - 1
16-3860778-C-T c.801G>A p.M267I Missense 3/31 - 1
16-3860780-T-C c.799A>G p.M267V Missense 3/31 - 1
16-3864502-A-G c.799-3722T>C - IntronicSNV - 2/30 1
16-3865110-T-C c.799-4330A>G - IntronicSNV - 2/30 1
16-3871286-G-A c.799-10506C>T - IntronicSNV - 2/30 1
16-3871286-G-T c.799-10506C>A - IntronicSNV - 2/30 1
16-3873642-A-C c.799-12862T>G - IntronicSNV - 2/30 5
16-3873642-A-G c.799-12862T>C - IntronicSNV - 2/30 5
16-3885977-T-C c.798+14321A>G - IntronicSNV - 2/30 1
16-3885977-T-G c.798+14321A>C - IntronicSNV - 2/30 1
16-3890293-A-G c.798+10005T>C - IntronicSNV - 2/30 1
16-3900296-A-C c.798+2T>G - IntronicSNV - 2/30 1
16-3900311-C-A c.785G>T p.G262V Missense 2/31 - 1
16-3900312-C-A c.784G>T p.G262* Nonsense 2/31 - 1
16-3900318-G-A c.778C>T p.Q260* Nonsense 2/31 - 2
16-3900321-C-T c.775G>A p.A259T Missense 2/31 - 2
16-3900328-C-A c.768G>T p.L256= Synonymous 2/31 - 1
16-3900328-C-G c.768G>C p.L256= Synonymous 2/31 - 1
16-3900328-C-T c.768G>A p.L256= Synonymous 2/31 - 1
16-3900330-G-A c.766C>T p.L256= Synonymous 2/31 - 1
16-3900335-G-A c.761C>T p.A254V Missense 2/31 - 1
16-3900336-C-G c.760G>C p.A254P Missense 2/31 - 1
16-3900336-C-T c.760G>A p.A254T Missense 2/31 - 3
16-3900353-G-A c.743C>T p.P248L Missense 2/31 - 2
16-3900354-G-A c.742C>T p.P248S Missense 2/31 - 1
16-3900354-G-T c.742C>A p.P248T Missense 2/31 - 1
16-3900366-T-C c.730A>G p.T244A Missense 2/31 - 1
16-3900371-G-A c.725C>T p.T242I Missense 2/31 - 1
16-3900384-C-G c.712G>C p.V238L Missense 2/31 - 2
16-3900384-C-T c.712G>A p.V238M Missense 2/31 - 1
16-3900389-C-A c.707G>T p.S236I Missense 2/31 - 1
16-3900399-C-G c.697G>C p.G233R Missense 2/31 - 1
16-3900399-C-T c.697G>A p.G233S Missense 2/31 - 2
16-3900402-G-A c.694C>T p.Q232* Nonsense 2/31 - 1
16-3900413-G-C c.683C>G p.T228S Missense 2/31 - 1
16-3900413-GT-CA c.682_683delinsTG p.T228C Missense 2/31 - 1
16-3900422-G-A c.674C>T p.P225L Missense 2/31 - 1
16-3900422-G-C c.674C>G p.P225R Missense 2/31 - 1
16-3900436-C-A c.660G>T p.R220S Missense 2/31 - 1
16-3900436-C-G c.660G>C p.R220S Missense 2/31 - 1
16-3900459-G-C c.637C>G p.L213V Missense 2/31 - 1
16-3900490-T-TG c.605dup p.Q203Tfs*39 Frameshift 2/31 - 1
16-3900497-T-A c.599A>T p.Q200L Missense 2/31 - 1
16-3900500-T-A c.596A>T p.N199I Missense 2/31 - 1
16-3900502-A-G c.594T>C p.I198= Synonymous 2/31 - 1
16-3900502-A-T c.594T>A p.I198= Synonymous 2/31 - 1
16-3900506-A-C c.590T>G p.L197* Nonsense 2/31 - 1
16-3900506-A-T c.590T>A p.L197* Nonsense 2/31 - 1
16-3900509-C-T c.587G>A p.S196N Missense 2/31 - 1
16-3900516-C-T c.580G>A p.G194S Missense 2/31 - 1
16-3900518-G-T c.578C>A p.S193Y Missense 2/31 - 1
16-3900540-G-C c.556C>G p.P186A Missense 2/31 - 1
16-3900541-G-T c.555C>A p.H185Q Missense 2/31 - 1
16-3900554-A-T c.542T>A p.F181Y Missense 2/31 - 1
16-3900555-A-C c.541T>G p.F181V Missense 2/31 - 1
16-3900569-C-A c.527G>T p.C176F Missense 2/31 - 1
16-3900569-C-T c.527G>A p.C176Y Missense 2/31 - 1
16-3900575-C-G c.521G>C p.G174A Missense 2/31 - 1
16-3900588-G-A c.508C>T p.Q170* Nonsense 2/31 - 1
16-3900593-G-A c.503C>T p.T168M Missense 2/31 - 1
16-3900609-TCGCCAGC-T c.480_486del p.T163Afs*13 Frameshift 2/31 - 1
16-3900638-G-A c.458C>T p.P153L Missense 2/31 - 1
16-3900660-C-T c.436G>A p.A146T Missense 2/31 - 1
16-3900663-G-A c.433C>T p.P145S Missense 2/31 - 1
16-3900674-G-C c.422C>G p.S141C Missense 2/31 - 1
16-3900683-G-A c.413C>T p.A138V Missense 2/31 - 1
16-3900685-CTGCCTGTTTAG-C c.401_411del p.P134Rfs*27 Frameshift 2/31 - 1
16-3900690-G-A c.406C>T p.Q136* Nonsense 2/31 - 1
16-3900693-T-A c.403A>T p.K135* Nonsense 2/31 - 1
16-3900709-T-A c.387A>T p.S129= Synonymous 2/31 - 1
16-3900709-T-C c.387A>G p.S129= Synonymous 2/31 - 1
16-3900709-T-G c.387A>C p.S129= Synonymous 2/31 - 1
16-3900713-G-C c.383C>G p.S128C Missense 2/31 - 1
16-3900723-G-A c.373C>T p.Q125* Nonsense 2/31 - 1
16-3900729-G-C c.367C>G p.L123V Missense 2/31 - 1
16-3900739-G-C c.357C>G p.G119= Synonymous 2/31 - 1
16-3900740-C-T c.356G>A p.G119D Missense 2/31 - 1
16-3900742-C-A c.354G>T p.M118I Missense 2/31 - 1
16-3900742-C-G c.354G>C p.M118I Missense 2/31 - 1
16-3900742-C-T c.354G>A p.M118I Missense 2/31 - 1
16-3900753-G-C c.343C>G p.L115V Missense 2/31 - 1
16-3900760-C-A c.336G>T p.M112I Missense 2/31 - 1
16-3900760-C-G c.336G>C p.M112I Missense 2/31 - 1
16-3900783-C-A c.313G>T p.G105W Missense 2/31 - 1
16-3900783-C-T c.313G>A p.G105R Missense 2/31 - 1
16-3900786-G-A c.310C>T p.Q104* Nonsense 2/31 - 1
16-3900796-ACCCAGG-A c.294_299del p.L99_G100del InFrameDeletion 2/31 - 1
16-3900800-AG-GC c.295_296delinsGC p.L99A Missense 2/31 - 1
16-3900803-C-A c.293G>T p.G98V Missense 2/31 - 1
16-3900804-C-T c.292G>A p.G98S Missense 2/31 - 2
16-3900805-C-G c.291G>C p.Q97H Missense 2/31 - 1
16-3900807-G-A c.289C>T p.Q97* Nonsense 2/31 - 1
16-3900810-G-A c.286C>T p.Q96* Nonsense 2/31 - 1
16-3900813-C-A c.283G>T p.V95L Missense 2/31 - 1
16-3900813-C-G c.283G>C p.V95L Missense 2/31 - 1
16-3900813-C-T c.283G>A p.V95M Missense 2/31 - 1
16-3900815-G-A c.281C>T p.P94L Missense 2/31 - 1
16-3900821-CT-AG c.274_275inv p.S92L Missense 2/31 - 1
16-3900823-GG-CT c.272_273delinsAG p.A91E Missense 2/31 - 1
16-3900824-G-A c.272C>T p.A91V Missense 2/31 - 1
16-3900825-C-T c.271G>A p.A91T Missense 2/31 - 1
16-3900837-C-G c.259G>C p.G87R Missense 2/31 - 1
16-3900840-T-G c.256A>C p.I86L Missense 2/31 - 1
16-3900842-C-G c.254G>C p.G85A Missense 2/31 - 1
16-3900843-C-T c.253G>A p.G85R Missense 2/31 - 1
16-3900845-G-T c.251C>A p.P84Q Missense 2/31 - 1
16-3900846-G-C c.250C>G p.P84A Missense 2/31 - 1
16-3900854-CT-GC c.241_242delinsGC p.S81A Missense 2/31 - 1
16-3900857-G-C c.239C>G p.S80C Missense 2/31 - 1
16-3900857-G-T c.239C>A p.S80Y Missense 2/31 - 1
16-3900859-G-A c.237C>T p.G79= Synonymous 2/31 - 1
16-3900862-G-A c.234C>T p.S78= Synonymous 2/31 - 1
16-3900862-G-T c.234C>A p.S78R Missense 2/31 - 1
16-3900864-T-A c.232A>T p.S78C Missense 2/31 - 1
16-3900873-G-A c.223C>T p.R75* Nonsense 2/31 - 1
16-3900876-G-C c.220C>G p.L74V Missense 2/31 - 1
16-3900893-T-A c.203A>T p.K68I Missense 2/31 - 1
16-3900899-T-C c.197A>G p.K66R Missense 2/31 - 1
16-3900901-G-A c.195C>T p.S65= Synonymous 2/31 - 1
16-3900901-G-C c.195C>G p.S65= Synonymous 2/31 - 1
16-3900902-GA-AC c.193_194delinsGT p.S65V Missense 2/31 - 1
16-3900902-GA-CC c.193_194delinsGG p.S65G Missense 2/31 - 1
16-3900906-C-T c.190G>A p.A64T Missense 2/31 - 1
16-3900907-A-C c.189T>G p.A63= Synonymous 2/31 - 1
16-3900907-A-G c.189T>C p.A63= Synonymous 2/31 - 1
16-3900907-AG-CT c.188_189inv p.A63E Missense 2/31 - 1
16-3900907-A-T c.189T>A p.A63= Synonymous 2/31 - 1
16-3900908-GC-CA c.187_188delinsTG p.A63C Missense 2/31 - 1
16-3900915-G-A c.181C>T p.P61S Missense 2/31 - 1
16-3900915-G-T c.181C>A p.P61T Missense 2/31 - 1
16-3900930-T-A c.166A>T p.S56C Missense 2/31 - 1
16-3900948-C-T c.148G>A p.E50K Missense 2/31 - 1
16-3900951-C-G c.145G>C p.G49R Missense 2/31 - 1
16-3900947-TCTC-T c.146_148del p.G49del InFrameDeletion 2/31 - 1
16-3900967-C-T c.129G>A p.E43= Synonymous 2/31 - 1
16-3900974-G-A c.122C>T p.P41L Missense 2/31 - 1
16-3900981-C-A c.115G>T p.D39Y Missense 2/31 - 1
16-3900984-T-G c.112A>C p.N38H Missense 2/31 - 1
16-3900989-AA-GC c.106_107delinsGC p.L36A Missense 2/31 - 1
16-3900991-G-C c.105C>G p.D35E Missense 2/31 - 1
16-3900992-TC-CA c.103_104delinsTG p.D35C Missense 2/31 - 1
16-3901006-A-G c.90T>C p.F30= Synonymous 2/31 - 1
16-3913995-A-G c.86-12985T>C - IntronicSNV - 1/30 3
16-3917531-A-G c.85+12302T>C - IntronicSNV - 1/30 2
16-3920740-C-G c.85+9093G>C - IntronicSNV - 1/30 1
16-3920740-C-T c.85+9093G>A - IntronicSNV - 1/30 1
16-3924937-C-T c.85+4896G>A - IntronicSNV - 1/30 2
16-3929826-T-TC c.85+6dup - IntronicInsertion - 1/30 1
16-3929833-CTGTGCTGTCA-C c.75_84del p.N25Kfs*17 SpliceDonorDeletion 1/31 - 1
16-3929838-CT-GC c.79_80delinsGC p.S27A Missense 1/31 - 2
16-3929846-CGC-ATG c.70_72delinsCAT p.A24H Missense 1/31 - 1
16-3929847-GC-TA c.70_71delinsTA p.A24* Nonsense 1/31 - 1
16-3929847-GC-TT c.70_71delinsAA p.A24K Missense 1/31 - 1
16-3929852-G-A c.66C>T p.F22= Synonymous 1/31 - 1
16-3929852-G-C c.66C>G p.F22L Missense 1/31 - 1
16-3929852-G-T c.66C>A p.F22L Missense 1/31 - 1
16-3929854-A-G c.64T>C p.F22L Missense 1/31 - 1
16-3929867-GAGTTTGGCTC-A c.41_51delinsT p.R14Ifs*28 Frameshift 1/31 - 1
16-3929872-T-C c.46A>G p.K16E Missense 1/31 - 1
16-3929876-TCT-ACA c.40_42delinsTGT p.R14C Missense 1/31 - 1
16-3929877-CT-GC c.40_41delinsGC p.R14A Missense 1/31 - 1
16-3929878-T-C c.40A>G p.R14G Missense 1/31 - 1
16-3929881-T-C c.37A>G p.K13E Missense 1/31 - 1
16-3929911-C-A c.7G>T p.E3* Nonsense 1/31 - 1
16-3929916-A-T c.2T>A p.M1? Missense 1/31 - 1