Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
9-139389184-A-G | c.*1339T>C | - | 3-UTRSNV | 34/34 | - | 2 |
9-139390145-T-C | c.*378A>G | - | 3-UTRSNV | 34/34 | - | 1 |
9-139390152-T-C | c.*371A>G | - | 3-UTRSNV | 34/34 | - | 1 |
9-139390397-C-T | c.*126G>A | - | 3-UTRSNV | 34/34 | - | 6 |
9-139390517-C-T | c.*6G>A | - | 3-UTRSNV | 34/34 | - | 1 |
9-139390543-T-C | c.7648A>G | p.Ile2550Val | Missense | 34/34 | - | 1 |
9-139390578-CT-GC | c.7612_7613delinsGC | p.Ser2538Ala | Missense | 34/34 | - | 1 |
9-139390585-C-T | c.7606G>A | p.Val2536Ile | Missense | 34/34 | - | 1 |
9-139390612-A-C | c.7579T>G | p.Ser2527Ala | Missense | 34/34 | - | 1 |
9-139390620-G-GG | c.7574dup | p.His2526Alafs*80 | Frameshift | 34/34 | - | 1 |
9-139390631-C-T | c.7560G>A | p.Trp2520* | Nonsense | 34/34 | - | 1 |
9-139390632-C-T | c.7559G>A | p.Trp2520* | Nonsense | 34/34 | - | 1 |
9-139390636-G-A | c.7555C>T | p.Gln2519* | Nonsense | 34/34 | - | 1 |
9-139390640-AGG-TAA | c.7549_7551delinsTTA | p.Pro2517Leu | Nonsense | 34/34 | - | 1 |
9-139390641-AGGGGACTC-A | c.7543_7550del | p.Glu2515* | Frameshift | 34/34 | - | 1 |
9-139390645-A-G | c.7546T>C | p.Ser2516Pro | Missense | 34/34 | - | 1 |
9-139390645-A-C | c.7546T>G | p.Ser2516Ala | Missense | 34/34 | - | 1 |
9-139390647-T-A | c.7544A>T | p.Glu2515Val | Missense | 34/34 | - | 1 |
9-139390648-TCAG-T | c.7541_7543del | p.Pro2514_Glu2515delinsGln | MultiAAMissense | 34/34 | - | 1 |
9-139390649-CAGG-C | c.7540_7542del | p.Pro2514del | InFrameDeletion | 34/34 | - | 1 |
9-139390649-CAG-C | c.7541_7542del | p.Pro2514Argfs*4 | Frameshift | 34/34 | - | 23 |
9-139390650-GG-TT | c.7540_7541delinsAA | p.Pro2514Asn | Missense | 34/34 | - | 1 |
9-139390650-G-T | c.7541C>A | p.Pro2514His | Missense | 34/34 | - | 1 |
9-139390650-G-C | c.7541C>G | p.Pro2514Arg | Missense | 34/34 | - | 2 |
9-139390653-G-GG | c.7541dup | p.Glu2515* | Nonsense | 34/34 | - | 1 |
9-139390654-A-C | c.7537T>G | p.Ser2513Ala | Missense | 34/34 | - | 1 |
9-139390656-G-A | c.7535C>T | p.Pro2512Leu | Missense | 34/34 | - | 1 |
9-139390658-GGGTGAGG-G | c.7529_7535del | p.Leu2510Argfs*77 | Frameshift | 34/34 | - | 1 |
9-139390658-GGT-TAA | c.7531_7533delinsTTA | p.Thr2511Leu | Nonsense | 34/34 | - | 1 |
9-139390660-T-C | c.7531A>G | p.Thr2511Ala | Missense | 34/34 | - | 1 |
9-139390662-A-G | c.7529T>C | p.Leu2510Pro | Missense | 34/34 | - | 1 |
9-139390665-AA-CC | c.7525_7526delinsGG | p.Phe2509Gly | Missense | 34/34 | - | 1 |
9-139390666-A-AA | c.7526dup | p.Leu2510Profs*6 | Frameshift | 34/34 | - | 1 |
9-139390668-G-A | c.7523C>T | p.Pro2508Leu | Missense | 34/34 | - | 1 |
9-139390671-T-A | c.7520A>T | p.His2507Leu | Missense | 34/34 | - | 1 |
9-139390673-C-G | c.7518G>C | p.Glu2506Asp | Missense | 34/34 | - | 1 |
9-139390673-C-A | c.7518G>T | p.Glu2506Asp | Missense | 34/34 | - | 1 |
9-139390675-C-A | c.7516G>T | p.Glu2506* | Nonsense | 34/34 | - | 1 |
9-139390683-T-G | c.7508A>C | p.Gln2503Pro | Missense | 34/34 | - | 1 |
9-139390684-G-A | c.7507C>T | p.Gln2503* | Nonsense | 34/34 | - | 6 |
9-139390687-G-C | c.7504C>G | p.Leu2502Val | Missense | 34/34 | - | 1 |
9-139390690-G-A | c.7501C>T | p.Gln2501* | Nonsense | 34/34 | - | 1 |
9-139390701-GG-G | c.7494del | p.Ser2499Alafs*90 | Frameshift | 34/34 | - | 1 |
9-139390716-G-T | c.7475C>A | p.Ser2492* | Nonsense | 34/34 | - | 3 |
9-139390721-G-T | c.7470C>A | p.Tyr2490* | Nonsense | 34/34 | - | 1 |
9-139390721-G-C | c.7470C>G | p.Tyr2490* | Nonsense | 34/34 | - | 1 |
9-139390728-GTGCTGCG-G | c.7458_7464del | p.Gln2487Alafs*100 | Frameshift | 34/34 | - | 1 |
9-139390732-G-A | c.7459C>T | p.Gln2487* | Nonsense | 34/34 | - | 3 |
9-139390733-C-CATGCGGCTAGACGCCT | c.7457_7458insAGGCGTCTAGCCGCAT | p.Gln2487Glyfs*3 | Frameshift | 34/34 | - | 1 |
9-139390734-G-T | c.7457C>A | p.Ser2486* | Nonsense | 34/34 | - | 1 |
9-139390748-GG-G | c.7444del | p.Leu2482* | Frameshift | 34/34 | - | 1 |
9-139390750-AA-A | c.7442del | p.Phe2481Serfs*2 | Frameshift | 34/34 | - | 1 |
9-139390764-AC-TA | c.7426_7427delinsTA | p.Val2476* | Nonsense | 34/34 | - | 1 |
9-139390782-GG-G | c.7410del | p.Ser2471Argfs*6 | Frameshift | 34/34 | - | 1 |
9-139390783-GA-G | c.7408del | p.Ser2470Profs*7 | Frameshift | 34/34 | - | 1 |
9-139390790-CG-AT | c.7400_7401delinsAT | p.Ser2467Tyr | Missense | 34/34 | - | 1 |
9-139390791-G-T | c.7400C>A | p.Ser2467* | Nonsense | 34/34 | - | 5 |
9-139390794-G-A | c.7397C>T | p.Thr2466Met | Missense | 34/34 | - | 1 |
9-139390804-C-T | c.7387G>A | p.Ala2463Thr | Missense | 34/34 | - | 1 |
9-139390804-C-G | c.7387G>C | p.Ala2463Pro | Missense | 34/34 | - | 1 |
9-139390804-GC-G | c.7387del | p.Ala2463Profs*14 | Frameshift | 34/34 | - | 1 |
9-139390813-C-A | c.7378G>T | p.Glu2460* | Nonsense | 34/34 | - | 2 |
9-139390816-G-T | c.7375C>A | p.Gln2459Lys | Missense | 34/34 | - | 1 |
9-139390816-G-A | c.7375C>T | p.Gln2459* | Nonsense | 34/34 | - | 2 |
9-139390822-G-GTA | c.7368_7369insTA | p.Leu2457Tyrfs*21 | Frameshift | 34/34 | - | 1 |
9-139390822-G-C | c.7369C>G | p.Leu2457Val | Missense | 34/34 | - | 7 |
9-139390836-G-T | c.7355C>A | p.Ala2452Glu | Missense | 34/34 | - | 1 |
9-139390861-G-A | c.7330C>T | p.Gln2444* | Nonsense | 34/34 | - | 2 |
9-139390863-A-ATC | c.7327_7328insGA | p.Val2443Glyfs*35 | Frameshift | 34/34 | - | 1 |
9-139390866-T-TGA | c.7324_7325insTC | p.Asp2442Valfs*36 | Frameshift | 34/34 | - | 1 |
9-139390869-G-A | c.7322C>T | p.Ala2441Val | Missense | 34/34 | - | 1 |
9-139390873-G-A | c.7318C>T | p.Gln2440* | Nonsense | 34/34 | - | 2 |
9-139390879-G-A | c.7312C>T | p.Pro2438Ser | Missense | 34/34 | - | 1 |
9-139390890-AG-TA | c.7300_7301delinsTA | p.Leu2434* | Nonsense | 34/34 | - | 1 |
9-139390912-CC-C | c.7280del | p.Gly2427Alafs*8 | Frameshift | 34/34 | - | 1 |
9-139390929-AC-TA | c.7261_7262delinsTA | p.Val2421* | Nonsense | 34/34 | - | 1 |
9-139390930-AC-A | c.7261del | p.Val2421* | Frameshift | 34/34 | - | 1 |
9-139390942-G-C | c.7249C>G | p.Pro2417Ala | Missense | 34/34 | - | 1 |
9-139390944-T-G | c.7247A>C | p.Gln2416Pro | Missense | 34/34 | - | 1 |
9-139390945-G-A | c.7246C>T | p.Gln2416* | Nonsense | 34/34 | - | 2 |
9-139390958-GTGG-G | c.7244_7246del | p.Pro2415del | InFrameDeletion | 34/34 | - | 2 |
9-139390965-T-C | c.7226A>G | p.Gln2409Arg | Missense | 34/34 | - | 1 |
9-139390966-G-A | c.7225C>T | p.Gln2409* | Nonsense | 34/34 | - | 3 |
9-139390970-GG-G | c.7222del | p.Leu2408Cysfs*14 | Frameshift | 34/34 | - | 1 |
9-139390975-G-A | c.7216C>T | p.Gln2406* | Nonsense | 34/34 | - | 1 |
9-139390978-G-A | c.7213C>T | p.Gln2405* | Nonsense | 34/34 | - | 1 |
9-139390981-G-A | c.7210C>T | p.Gln2404* | Nonsense | 34/34 | - | 3 |
9-139390984-G-A | c.7207C>T | p.Gln2403* | Nonsense | 34/34 | - | 2 |
9-139390990-T-TGC | c.7200_7201insGC | p.Asn2401Alafs*22 | Frameshift | 34/34 | - | 1 |
9-139390999-G-A | c.7192C>T | p.Gln2398* | Nonsense | 34/34 | - | 1 |
9-139391008-G-A | c.7183C>T | p.Gln2395* | Nonsense | 34/34 | - | 1 |
9-139391011-G-A | c.7180C>T | p.Gln2394* | Nonsense | 34/34 | - | 1 |
9-139391013-T-C | c.7178A>G | p.Gln2393Arg | Missense | 34/34 | - | 1 |
9-139391020-G-A | c.7171C>T | p.Gln2391* | Nonsense | 34/34 | - | 1 |
9-139391063-C-G | c.7128G>C | p.Gln2376His | Missense | 34/34 | - | 1 |
9-139391076-C-T | c.7115G>A | p.Arg2372Gln | Missense | 34/34 | - | 1 |
9-139391105-C-T | c.7086G>A | p.Met2362Ile | Missense | 34/34 | - | 1 |
9-139391105-C-G | c.7086G>C | p.Met2362Ile | Missense | 34/34 | - | 1 |
9-139391105-C-A | c.7086G>T | p.Met2362Ile | Missense | 34/34 | - | 1 |
9-139391184-C-T | c.7007G>A | p.Ser2336Asn | Missense | 34/34 | - | 2 |
9-139391192-G-GG | c.7003dup | p.Leu2335Profs*19 | Frameshift | 34/34 | - | 1 |
9-139391196-G-A | c.6995C>T | p.Pro2332Leu | Missense | 34/34 | - | 1 |
9-139391200-C-T | c.6991G>A | p.Ala2331Thr | Missense | 34/34 | - | 1 |
9-139391204-CAC-C | c.6989_6990del | p.Val2330Glyfs*23 | Frameshift | 34/34 | - | 1 |
9-139391232-G-C | c.6959C>G | p.Pro2320Arg | Missense | 34/34 | - | 1 |
9-139391248-G-A | c.6943C>T | p.Gln2315* | Nonsense | 34/34 | - | 1 |
9-139391250-A-G | c.6941T>C | p.Leu2314Pro | Missense | 34/34 | - | 1 |
9-139391302-T-G | c.6889A>C | p.Thr2297Pro | Missense | 34/34 | - | 1 |
9-139391338-C-T | c.6853G>A | p.Val2285Ile | Missense | 34/34 | - | 4 |
9-139391355-G-A | c.6836C>T | p.Ala2279Val | Missense | 34/34 | - | 1 |
9-139391376-C-T | c.6815G>A | p.Arg2272His | Missense | 34/34 | - | 1 |
9-139391377-G-A | c.6814C>T | p.Arg2272Cys | Missense | 34/34 | - | 1 |
9-139391385-C-G | c.6806G>C | p.Gly2269Ala | Missense | 34/34 | - | 1 |
9-139391394-A-G | c.6797T>C | p.Phe2266Ser | Missense | 34/34 | - | 1 |
9-139391403-C-T | c.6788G>A | p.Arg2263Gln | Missense | 34/34 | - | 1 |
9-139391407-C-T | c.6784G>A | p.Gly2262Ser | Missense | 34/34 | - | 1 |
9-139391436-T-C | c.6755A>G | p.Lys2252Arg | Missense | 34/34 | - | 1 |
9-139391543-C-T | c.6648G>A | p.Pro2216Pro | Synonymous | 34/34 | - | 2 |
9-139391578-A-C | c.6613T>G | p.Ser2205Ala | Missense | 34/34 | - | 1 |
9-139391636-G-A | c.6555C>T | p.Asp2185Asp | Synonymous | 34/34 | - | 6 |
9-139391706-GCTG-G | c.6488_6490del | p.Ser2163del | InFrameDeletion | 34/34 | - | 1 |
9-139391710-G-A | c.6481C>T | p.Pro2161Ser | Missense | 34/34 | - | 1 |
9-139391725-T-A | c.6466A>T | p.Lys2156* | Nonsense | 34/34 | - | 1 |
9-139391742-T-C | c.6449A>G | p.Lys2150Arg | Missense | 34/34 | - | 1 |
9-139391778-G-A | c.6413C>T | p.Pro2138Leu | Missense | 34/34 | - | 1 |
9-139391826-G-A | c.6365C>T | p.Pro2122Leu | Missense | 34/34 | - | 2 |
9-139391840-G-T | c.6351C>A | p.Asn2117Lys | Missense | 34/34 | - | 1 |
9-139391870-CG-C | c.6321del | p.His2107Glnfs*4 | Frameshift | 34/34 | - | 1 |
9-139391880-C-T | c.6311G>A | p.Arg2104His | Missense | 34/34 | - | 1 |
9-139391898-C-T | c.6293G>A | p.Arg2098His | Missense | 34/34 | - | 1 |
9-139391900-C-A | c.6291G>T | p.Pro2097Pro | Synonymous | 34/34 | - | 1 |
9-139391900-C-T | c.6291G>A | p.Pro2097Pro | Synonymous | 34/34 | - | 1 |
9-139391901-G-A | c.6290C>T | p.Pro2097Leu | Missense | 34/34 | - | 1 |
9-139391937-G-C | c.6254C>G | p.Ala2085Gly | Missense | 34/34 | - | 1 |
9-139391983-G-A | c.6208C>T | p.Arg2070Trp | Missense | 34/34 | - | 1 |
9-139392000-G-A | c.6191C>T | p.Pro2064Leu | Missense | 34/34 | - | 1 |
9-139393162-G-A | c.6180+189C>T | - | IntronicSNV | - | 33/33 | 1 |
9-139393307-A-G | c.6180+44T>C | - | IntronicSNV | - | 33/33 | 1 |
9-139393385-T-C | c.6146A>G | p.Lys2049Arg | Missense | 33/34 | - | 1 |
9-139393403-G-A | c.6128C>T | p.Ala2043Val | Missense | 33/34 | - | 1 |
9-139393412-T-C | c.6119A>G | p.Asn2040Ser | Missense | 33/34 | - | 1 |
9-139393419-C-A | c.6112G>T | p.Val2038Leu | Missense | 33/34 | - | 1 |
9-139393419-C-G | c.6112G>C | p.Val2038Leu | Missense | 33/34 | - | 1 |
9-139393424-G-A | c.6107C>T | p.Ala2036Val | Missense | 33/34 | - | 1 |
9-139393425-C-T | c.6106G>A | p.Ala2036Thr | Missense | 33/34 | - | 1 |
9-139393431-A-G | c.6100T>C | p.Trp2034Arg | Missense | 33/34 | - | 1 |
9-139393431-A-T | c.6100T>A | p.Trp2034Arg | Missense | 33/34 | - | 1 |
9-139393579-C-T | c.6067G>A | p.Ala2023Thr | Missense | 32/34 | - | 1 |
9-139393585-C-T | c.6061G>A | p.Val2021Ile | Missense | 32/34 | - | 1 |
9-139393588-C-G | c.6058G>C | p.Asp2020His | Missense | 32/34 | - | 1 |
9-139393592-G-T | c.6054C>A | p.His2018Gln | Missense | 32/34 | - | 1 |
9-139393597-GAG-G | c.6049_6050del | p.Ser2017Thrfs*9 | Frameshift | 32/34 | - | 2 |
9-139393614-A-C | c.6032T>G | p.Leu2011Arg | Missense | 32/34 | - | 1 |
9-139393635-C-A | c.6011G>T | p.Arg2004Leu | Missense | 32/34 | - | 1 |
9-139393636-G-A | c.6010C>T | p.Arg2004Cys | Missense | 32/34 | - | 1 |
9-139393656-G-A | c.5990C>T | p.Thr1997Met | Missense | 32/34 | - | 2 |
9-139393659-G-A | c.5987C>T | p.Thr1996Met | Missense | 32/34 | - | 1 |
9-139393681-C-T | c.5965G>A | p.Asp1989Asn | Missense | 32/34 | - | 4 |
9-139393695-CG-GC | c.5950_5951delinsGC | p.Arg1984Ala | Missense | 32/34 | - | 1 |
9-139393696-G-A | c.5950C>T | p.Arg1984* | Nonsense | 32/34 | - | 1 |
9-139393698-T-C | c.5948A>G | p.Asn1983Ser | Missense | 32/34 | - | 3 |
9-139393700-CC-AT | c.5945_5946delinsAT | p.Arg1982His | Missense | 32/34 | - | 1 |
9-139394345-G-A | c.5935-634C>T | - | IntronicSNV | - | 31/33 | 1 |
9-139394345-G-C | c.5935-634C>G | - | IntronicSNV | - | 31/33 | 1 |
9-139395068-T-G | c.5870A>C | p.Gln1957Pro | Missense | 31/34 | - | 2 |
9-139395113-TC-TG | c.5824delinsC | p.Asp1942His | Missense | 31/34 | - | 1 |
9-139395150-T-C | c.5788A>G | p.Thr1930Ala | Missense | 31/34 | - | 1 |
9-139395153-C-A | c.5785G>T | p.Glu1929* | Nonsense | 31/34 | - | 1 |
9-139395171-G-A | c.5767C>T | p.Gln1923* | Nonsense | 31/34 | - | 1 |
9-139395248-G-A | c.5690C>T | p.Thr1897Met | Missense | 31/34 | - | 1 |
9-139395269-CA-GC | c.5668_5669delinsGC | p.Cys1890Ala | Missense | 31/34 | - | 1 |
9-139395311-G-C | c.5639-12C>G | - | IntronicSNV | - | 30/33 | 2 |
9-139395311-G-A | c.5639-12C>T | - | IntronicSNV | - | 30/33 | 2 |
9-139395473-C-T | c.5639-174G>A | - | IntronicSNV | - | 30/33 | 2 |
9-139396113-T-A | c.5638+87A>T | - | IntronicSNV | - | 30/33 | 1 |
9-139396213-A-T | c.5625T>A | p.Asn1875Lys | Missense | 30/34 | - | 1 |
9-139396213-A-C | c.5625T>G | p.Asn1875Lys | Missense | 30/34 | - | 1 |
9-139396214-T-C | c.5624A>G | p.Asn1875Ser | Missense | 30/34 | - | 2 |
9-139396226-CA-GC | c.5611_5612delinsGC | p.Cys1871Ala | Missense | 30/34 | - | 1 |
9-139396259-G-A | c.5579C>T | p.Pro1860Leu | Missense | 30/34 | - | 1 |
9-139396309-C-T | c.5529G>A | p.Trp1843* | Nonsense | 30/34 | - | 4 |
9-139396408-A-G | c.5473-43T>C | - | IntronicSNV | - | 29/33 | 5 |
9-139396454-C-T | c.5471G>A | p.Arg1824Gln | Missense | 29/34 | - | 1 |
9-139396500-T-G | c.5425A>C | p.Asn1809His | Missense | 29/34 | - | 1 |
9-139396503-C-T | c.5422G>A | p.Asp1808Asn | Missense | 29/34 | - | 1 |
9-139396511-A-G | c.5414T>C | p.Leu1805Pro | Missense | 29/34 | - | 1 |
9-139396690-C-T | c.5384+34G>A | - | IntronicSNV | - | 28/33 | 1 |
9-139396757-C-A | c.5351G>T | p.Arg1784Leu | Missense | 28/34 | - | 1 |
9-139396799-GG-TT | c.5308_5309delinsAA | p.Pro1770Asn | Missense | 28/34 | - | 1 |
9-139396800-G-A | c.5308C>T | p.Pro1770Ser | Missense | 28/34 | - | 3 |
9-139396804-C-T | c.5304G>A | p.Trp1768* | Nonsense | 28/34 | - | 1 |
9-139396805-C-T | c.5303G>A | p.Trp1768* | Nonsense | 28/34 | - | 1 |
9-139396835-C-T | c.5273G>A | p.Arg1758His | Missense | 28/34 | - | 1 |
9-139396836-G-C | c.5272C>G | p.Arg1758Gly | Missense | 28/34 | - | 1 |
9-139396836-G-A | c.5272C>T | p.Arg1758Cys | Missense | 28/34 | - | 1 |
9-139396847-A-C | c.5261T>G | p.Val1754Gly | Missense | 28/34 | - | 1 |
9-139396879-G-A | c.5229C>T | p.Ala1743Ala | Synonymous | 28/34 | - | 1 |
9-139396890-C-A | c.5218G>T | p.Ala1740Ser | Missense | 28/34 | - | 1 |
9-139396893-C-T | c.5215G>A | p.Val1739Met | Missense | 28/34 | - | 1 |
9-139396911-G-A | c.5197C>T | p.Gln1733* | Nonsense | 28/34 | - | 1 |
9-139396919-G-A | c.5189C>T | p.Pro1730Leu | Missense | 28/34 | - | 1 |
9-139396983-A-G | c.5168-43T>C | - | IntronicSNV | - | 27/33 | 1 |
9-139397631-TTACT-T | c.5167+3_5167+6del | - | IntronicDeletion | 27/34 | 27/33 | 1 |
9-139397636-T-G | c.5165A>C | p.Gln1722Pro | Missense | 27/34 | - | 1 |
9-139397639-A-C | c.5162T>G | p.Val1721Gly | Missense | 27/34 | - | 2 |
9-139397640-C-T | c.5161G>A | p.Val1721Met | Missense | 27/34 | - | 1 |
9-139397648-A-G | c.5153T>C | p.Ile1718Thr | Missense | 27/34 | - | 1 |
9-139397675-A-G | c.5126T>C | p.Leu1709Pro | Missense | 27/34 | - | 1 |
9-139397681-G-A | c.5120C>T | p.Ala1707Val | Missense | 27/34 | - | 1 |
9-139397682-C-T | c.5119G>A | p.Ala1707Thr | Missense | 27/34 | - | 1 |
9-139397687-G-A | c.5114C>T | p.Ala1705Val | Missense | 27/34 | - | 1 |
9-139397696-A-G | c.5105T>C | p.Phe1702Ser | Missense | 27/34 | - | 1 |
9-139397700-C-T | c.5101G>A | p.Ala1701Thr | Missense | 27/34 | - | 1 |
9-139397700-C-A | c.5101G>T | p.Ala1701Ser | Missense | 27/34 | - | 1 |
9-139397707-G-A | c.5094C>T | p.Asp1698Asp | Synonymous | 27/34 | - | 8 |
9-139397714-G-T | c.5087C>A | p.Ala1696Asp | Missense | 27/34 | - | 2 |
9-139397762-A-T | c.5039T>A | p.Ile1680Asn | Missense | 27/34 | - | 3 |
9-139397767-C-A | c.5034G>T | p.Leu1678Leu | Synonymous | 27/34 | - | 1 |
9-139397768-A-G | c.5033T>C | p.Leu1678Pro | Missense | 27/34 | - | 10 |
9-139397768-A-T | c.5033T>A | p.Leu1678Gln | Missense | 27/34 | - | 1 |
9-139397775-C-T | c.5026G>A | p.Val1676Ile | Missense | 27/34 | - | 1 |
9-139397780-G-A | c.5021C>T | p.Ser1674Phe | Missense | 27/34 | - | 1 |
9-139397781-A-G | c.5020T>C | p.Ser1674Pro | Missense | 27/34 | - | 1 |
9-139397817-G-A | c.5019-35C>T | - | IntronicSNV | - | 26/33 | 1 |
9-139399070-G-A | c.5018+55C>T | - | IntronicSNV | - | 26/33 | 1 |
9-139399070-G-C | c.5018+55C>G | - | IntronicSNV | - | 26/33 | 1 |
9-139399128-C-T | c.5015G>A | p.Arg1672His | Missense | 26/34 | - | 2 |
9-139399132-C-T | c.5011G>A | p.Val1671Ile | Missense | 26/34 | - | 3 |
9-139399136-C-A | c.5007G>T | p.Met1669Ile | Missense | 26/34 | - | 1 |
9-139399136-C-G | c.5007G>C | p.Met1669Ile | Missense | 26/34 | - | 1 |
9-139399136-C-T | c.5007G>A | p.Met1669Ile | Missense | 26/34 | - | 1 |
9-139399158-C-A | c.4985G>T | p.Arg1662Leu | Missense | 26/34 | - | 1 |
9-139399167-C-T | c.4976G>A | p.Gly1659Asp | Missense | 26/34 | - | 1 |
9-139399191-G-A | c.4952C>T | p.Ser1651Leu | Missense | 26/34 | - | 1 |
9-139399193-G-T | c.4950C>A | p.Ala1650Ala | Synonymous | 26/34 | - | 1 |
9-139399193-G-A | c.4950C>T | p.Ala1650Ala | Synonymous | 26/34 | - | 1 |
9-139399193-G-C | c.4950C>G | p.Ala1650Ala | Synonymous | 26/34 | - | 1 |
9-139399195-C-T | c.4948G>A | p.Ala1650Thr | Missense | 26/34 | - | 1 |
9-139399228-C-T | c.4915G>A | p.Ala1639Thr | Missense | 26/34 | - | 1 |
9-139399229-C-T | c.4914G>A | p.Trp1638* | Nonsense | 26/34 | - | 1 |
9-139399230-C-T | c.4913G>A | p.Trp1638* | Nonsense | 26/34 | - | 1 |
9-139399243-C-A | c.4900G>T | p.Ala1634Ser | Missense | 26/34 | - | 1 |
9-139399245-C-A | c.4898G>T | p.Arg1633Leu | Missense | 26/34 | - | 1 |
9-139399245-C-T | c.4898G>A | p.Arg1633His | Missense | 26/34 | - | 2 |
9-139399263-C-T | c.4880G>A | p.Arg1627His | Missense | 26/34 | - | 1 |
9-139399272-CTCCTCGCGGCCGTAGTAGGGGAAGATCATCTGCTGGCCGTGTGCGTCACGCTTGAAGAC-C | c.4814_4872del | p.Val1605Glyfs*18 | SpliceAcceptorDeletion | 26/34 | - | 1 |
9-139399285-A-T | c.4858T>A | p.Tyr1620Asn | Missense | 26/34 | - | 1 |
9-139399286-G-T | c.4857C>A | p.Tyr1619* | Nonsense | 26/34 | - | 2 |
9-139399286-G-C | c.4857C>G | p.Tyr1619* | Nonsense | 26/34 | - | 2 |
9-139399296-A-T | c.4847T>A | p.Ile1616Asn | Missense | 26/34 | - | 2 |
9-139399298-C-G | c.4845G>C | p.Met1615Ile | Missense | 26/34 | - | 1 |
9-139399298-C-A | c.4845G>T | p.Met1615Ile | Missense | 26/34 | - | 1 |
9-139399298-C-T | c.4845G>A | p.Met1615Ile | Missense | 26/34 | - | 1 |
9-139399315-C-T | c.4828G>A | p.Ala1610Thr | Missense | 26/34 | - | 1 |
9-139399320-C-T | c.4823G>A | p.Arg1608His | Missense | 26/34 | - | 1 |
9-139399321-G-T | c.4822C>A | p.Arg1608Ser | Missense | 26/34 | - | 1 |
9-139399322-CTT-TTGAAGGTT | c.4821delinsCCTTCAA | p.Lys1607delinsAsnLeuGln | MultiAAMissense | 26/34 | - | 1 |
9-139399326-AAG-GCT | c.4815_4817delinsAGC | p.Phe1606Ala | Missense | 26/34 | - | 1 |
9-139399325-G-C | c.4818C>G | p.Phe1606Leu | Missense | 26/34 | - | 1 |
9-139399325-G-T | c.4818C>A | p.Phe1606Leu | Missense | 26/34 | - | 1 |
9-139399327-A-G | c.4816T>C | p.Phe1606Leu | Missense | 26/34 | - | 1 |
9-139399334-G-T | c.4809C>A | p.Asn1603Lys | Missense | 26/34 | - | 1 |
9-139399334-G-C | c.4809C>G | p.Asn1603Lys | Missense | 26/34 | - | 1 |
9-139399341-T-A | c.4802A>T | p.His1601Leu | Missense | 26/34 | - | 2 |
9-139399344-A-G | c.4799T>C | p.Leu1600Pro | Missense | 26/34 | - | 4 |
9-139399344-A-T | c.4799T>A | p.Leu1600Gln | Missense | 26/34 | - | 4 |
9-139399348-C-T | c.4795G>A | p.Val1599Met | Missense | 26/34 | - | 1 |
9-139399349-G-A | c.4794C>T | p.Arg1598Arg | Synonymous | 26/34 | - | 1 |
9-139399349-G-C | c.4794C>G | p.Arg1598Arg | Synonymous | 26/34 | - | 1 |
9-139399349-G-T | c.4794C>A | p.Arg1598Arg | Synonymous | 26/34 | - | 1 |
9-139399350-C-T | c.4793G>A | p.Arg1598His | Missense | 26/34 | - | 2 |
9-139399350-C-G | c.4793G>C | p.Arg1598Pro | Missense | 26/34 | - | 5 |
9-139399356-A-G | c.4787T>C | p.Leu1596Pro | Missense | 26/34 | - | 1 |
9-139399356-A-T | c.4787T>A | p.Leu1596His | Missense | 26/34 | - | 1 |
9-139399360-C-A | c.4783G>T | p.Glu1595* | Nonsense | 26/34 | - | 1 |
9-139399362-C-T | c.4781G>A | p.Arg1594Gln | Missense | 26/34 | - | 7 |
9-139399365-A-G | c.4778T>C | p.Leu1593Pro | Missense | 26/34 | - | 2 |
9-139399366-G-GTTC | c.4776_4777insGAA | p.Phe1592_Leu1593insGlu | InFrameInsertion | 26/34 | - | 1 |
9-139399367-G-GGTTCTG | c.4776_4777insAGAACC | p.Phe1592_Leu1593insArgThr | InFrameInsertion | 26/34 | - | 1 |
9-139399368-A-G | c.4775T>C | p.Phe1592Ser | Missense | 26/34 | - | 5 |
9-139399368-A-C | c.4775T>G | p.Phe1592Cys | Missense | 26/34 | - | 1 |
9-139399367-G-C | c.4776C>G | p.Phe1592Leu | Missense | 26/34 | - | 1 |
9-139399367-G-T | c.4776C>A | p.Phe1592Leu | Missense | 26/34 | - | 1 |
9-139399369-A-G | c.4774T>C | p.Phe1592Leu | Missense | 26/34 | - | 1 |
9-139399370-G-C | c.4773C>G | p.His1591Gln | Missense | 26/34 | - | 1 |
9-139399371-TG-AC | c.4771_4772delinsGT | p.His1591Val | Missense | 26/34 | - | 1 |
9-139399389-A-T | c.4754T>A | p.Leu1585Gln | Missense | 26/34 | - | 1 |
9-139399389-A-G | c.4754T>C | p.Leu1585Pro | Missense | 26/34 | - | 3 |
9-139399391-C-G | c.4752G>C | p.Gln1584His | Missense | 26/34 | - | 1 |
9-139399391-C-A | c.4752G>T | p.Gln1584His | Missense | 26/34 | - | 1 |
9-139399394-C-A | c.4749G>T | p.Glu1583Asp | Missense | 26/34 | - | 1 |
9-139399394-C-G | c.4749G>C | p.Glu1583Asp | Missense | 26/34 | - | 1 |
9-139399398-CGGCGGC-C | c.4741_4746del | p.Pro1581_Pro1582del | InFrameDeletion | 26/34 | - | 1 |
9-139399401-CGGC-C | c.4744_4746del | p.Pro1582del | InFrameDeletion | 26/34 | - | 1 |
9-139399404-A-AA | c.4739dup | p.Met1580Ilefs*30 | Frameshift | 26/34 | - | 1 |
9-139399404-A-G | c.4739T>C | p.Met1580Thr | Missense | 26/34 | - | 1 |
9-139399405-T-A | c.4738A>T | p.Met1580Leu | Missense | 26/34 | - | 1 |
9-139399405-T-G | c.4738A>C | p.Met1580Leu | Missense | 26/34 | - | 1 |
9-139399413-A-T | c.4730T>A | p.Val1577Glu | Missense | 26/34 | - | 2 |
9-139399414-C-A | c.4729G>T | p.Val1577Leu | Missense | 26/34 | - | 1 |
9-139399414-C-G | c.4729G>C | p.Val1577Leu | Missense | 26/34 | - | 1 |
9-139399417-ACCACCA-A | c.4729_4734del | p.Val1577_Val1578del | InFrameDeletion | 26/34 | - | 1 |
9-139399418-CAC-ATC | c.4724_4725delinsAT | p.Val1575Asp | Missense | 26/34 | - | 1 |
9-139399420-ACCA-A | c.4732_4734del | p.Val1578del | InFrameDeletion | 26/34 | - | 11 |
9-139399420-C-T | c.4723G>A | p.Val1575Met | Missense | 26/34 | - | 1 |
9-139399420-C-A | c.4723G>T | p.Val1575Leu | Missense | 26/34 | - | 1 |
9-139399420-C-G | c.4723G>C | p.Val1575Leu | Missense | 26/34 | - | 1 |
9-139399422-A-G | c.4721T>C | p.Leu1574Pro | Missense | 26/34 | - | 6 |
9-139399428-C-T | c.4715G>A | p.Gly1572Asp | Missense | 26/34 | - | 2 |
9-139399444-C-A | c.4699G>T | p.Glu1567* | Nonsense | 26/34 | - | 1 |
9-139399444-C-T | c.4699G>A | p.Glu1567Lys | Missense | 26/34 | - | 2 |
9-139399453-G-A | c.4690C>T | p.His1564Tyr | Missense | 26/34 | - | 1 |
9-139399454-C-A | c.4689G>T | p.Glu1563Asp | Missense | 26/34 | - | 1 |
9-139399454-C-G | c.4689G>C | p.Glu1563Asp | Missense | 26/34 | - | 1 |
9-139399461-C-T | c.4682G>A | p.Cys1561Tyr | Missense | 26/34 | - | 1 |
9-139399463-G-T | c.4680C>A | p.Asp1560Glu | Missense | 26/34 | - | 1 |
9-139399471-C-CC | c.4674dup | p.Leu1559Alafs*51 | Frameshift | 26/34 | - | 1 |
9-139399480-C-A | c.4663G>T | p.Glu1555* | Nonsense | 26/34 | - | 1 |
9-139399483-A-T | c.4660T>A | p.Cys1554Ser | Missense | 26/34 | - | 1 |
9-139399482-C-G | c.4661G>C | p.Cys1554Ser | Missense | 26/34 | - | 1 |
9-139399497-C-A | c.4646G>T | p.Cys1549Phe | Missense | 26/34 | - | 1 |
9-139399497-C-T | c.4646G>A | p.Cys1549Tyr | Missense | 26/34 | - | 1 |
9-139399512-T-G | c.4631A>C | p.His1544Pro | Missense | 26/34 | - | 1 |
9-139399515-C-G | c.4628G>C | p.Gly1543Ala | Missense | 26/34 | - | 1 |
9-139399522-T-G | c.4621A>C | p.Ser1541Arg | Missense | 26/34 | - | 1 |
9-139399520-G-C | c.4623C>G | p.Ser1541Arg | Missense | 26/34 | - | 1 |
9-139399520-G-T | c.4623C>A | p.Ser1541Arg | Missense | 26/34 | - | 1 |
9-139399521-C-T | c.4622G>A | p.Ser1541Asn | Missense | 26/34 | - | 1 |
9-139399536-C-T | c.4607G>A | p.Cys1536Tyr | Missense | 26/34 | - | 1 |
9-139399641-G-A | c.4587-85C>T | - | IntronicSNV | - | 25/33 | 1 |
9-139399781-G-A | c.4567C>T | p.Arg1523Cys | Missense | 25/34 | - | 1 |
9-139399790-C-G | c.4558G>C | p.Asp1520His | Missense | 25/34 | - | 1 |
9-139399799-C-T | c.4549G>A | p.Asp1517Asn | Missense | 25/34 | - | 2 |
9-139399856-T-C | c.4492A>G | p.Lys1498Glu | Missense | 25/34 | - | 2 |
9-139399861-C-T | c.4487G>A | p.Cys1496Tyr | Missense | 25/34 | - | 2 |
9-139399865-G-T | c.4483C>A | p.Gln1495Lys | Missense | 25/34 | - | 1 |
9-139399878-G-C | c.4470C>G | p.Cys1490Trp | Missense | 25/34 | - | 1 |
9-139399884-C-A | c.4464G>T | p.Lys1488Asn | Missense | 25/34 | - | 1 |
9-139399884-C-G | c.4464G>C | p.Lys1488Asn | Missense | 25/34 | - | 1 |
9-139399887-C-A | c.4461G>T | p.Trp1487Cys | Missense | 25/34 | - | 1 |
9-139399887-C-G | c.4461G>C | p.Trp1487Cys | Missense | 25/34 | - | 1 |
9-139399922-C-T | c.4426G>A | p.Gly1476Ser | Missense | 25/34 | - | 1 |
9-139399937-C-T | c.4411G>A | p.Ala1471Thr | Missense | 25/34 | - | 1 |
9-139399978-T-C | c.4370A>G | p.Asp1457Gly | Missense | 25/34 | - | 1 |
9-139400012-C-A | c.4336G>T | p.Glu1446* | Nonsense | 25/34 | - | 1 |
9-139400022-C-CC | c.4326dup | p.Pro1443Alafs*36 | Frameshift | 25/34 | - | 1 |
9-139400029-A-G | c.4319T>C | p.Ile1440Thr | Missense | 25/34 | - | 1 |
9-139400036-G-A | c.4312C>T | p.Arg1438Cys | Missense | 25/34 | - | 1 |
9-139400110-C-T | c.4238G>A | p.Arg1413His | Missense | 25/34 | - | 1 |
9-139400126-C-A | c.4222G>T | p.Glu1408* | Nonsense | 25/34 | - | 1 |
9-139400134-G-T | c.4214C>A | p.Pro1405His | Missense | 25/34 | - | 2 |
9-139400180-G-T | c.4168C>A | p.Pro1390Thr | Missense | 25/34 | - | 7 |
9-139400200-C-T | c.4148G>A | p.Cys1383Tyr | Missense | 25/34 | - | 1 |
9-139400212-G-A | c.4136C>T | p.Thr1379Met | Missense | 25/34 | - | 1 |
9-139400219-G-A | c.4129C>T | p.Pro1377Ser | Missense | 25/34 | - | 2 |
9-139400223-C-A | c.4125G>T | p.Leu1375Leu | Synonymous | 25/34 | - | 1 |
9-139400227-C-T | c.4121G>A | p.Cys1374Tyr | Missense | 25/34 | - | 1 |
9-139400228-A-G | c.4120T>C | p.Cys1374Arg | Missense | 25/34 | - | 2 |
9-139400244-G-A | c.4104C>T | p.Arg1368Arg | Synonymous | 25/34 | - | 1 |
9-139400278-C-T | c.4070G>A | p.Cys1357Tyr | Missense | 25/34 | - | 1 |
9-139400298-TACGAGCGT-T | c.4045_4052del | p.Ala1349Leufs*53 | Frameshift | 25/34 | - | 1 |
9-139400299-C-A | c.4049G>T | p.Arg1350Leu | Missense | 25/34 | - | 4 |
9-139400320-G-A | c.4028C>T | p.Ala1343Val | Missense | 25/34 | - | 7 |
9-139400324-C-T | c.4024G>A | p.Gly1342Ser | Missense | 25/34 | - | 1 |
9-139400406-C-T | c.4015-73G>A | - | IntronicSNV | - | 24/33 | 2 |
9-139400904-C-T | c.4014+75G>A | - | IntronicSNV | - | 24/33 | 2 |
9-139400981-C-T | c.4012G>A | p.Ala1338Thr | Missense | 24/34 | - | 1 |
9-139401000-CCC-AGC | c.3992_3993delinsCT | p.Gly1331Ala | Missense | 24/34 | - | 1 |
9-139401003-GCG-TGG | c.3989_3990delinsCA | p.Arg1330Pro | Missense | 24/34 | - | 1 |
9-139401004-C-T | c.3989G>A | p.Arg1330His | Missense | 24/34 | - | 1 |
9-139401023-ACGGCGCA-A | c.3966_3972del | p.Cys1322Trpfs*121 | Frameshift | 24/34 | - | 1 |
9-139401080-C-T | c.3913G>A | p.Glu1305Lys | Missense | 24/34 | - | 1 |
9-139401189-C-A | c.3880G>T | p.Glu1294* | Nonsense | 23/34 | - | 2 |
9-139401193-G-C | c.3876C>G | p.His1292Gln | Missense | 23/34 | - | 1 |
9-139401209-C-T | c.3860G>A | p.Arg1287His | Missense | 23/34 | - | 1 |
9-139401210-G-A | c.3859C>T | p.Arg1287Cys | Missense | 23/34 | - | 1 |
9-139401216-C-T | c.3853G>A | p.Val1285Met | Missense | 23/34 | - | 2 |
9-139401233-C-T | c.3836G>A | p.Arg1279His | Missense | 23/34 | - | 6 |
9-139401233-CG-GA | c.3835_3836delinsTC | p.Arg1279Ser | Missense | 23/34 | - | 1 |
9-139401240-C-T | c.3829G>A | p.Asp1277Asn | Missense | 23/34 | - | 1 |
9-139401261-C-A | c.3808G>T | p.Glu1270* | Nonsense | 23/34 | - | 1 |
9-139401267-AC-A | c.3802del | p.Val1268Serfs*177 | Frameshift | 23/34 | - | 1 |
9-139401270-C-T | c.3799G>A | p.Asp1267Asn | Missense | 23/34 | - | 1 |
9-139401281-C-T | c.3788G>A | p.Arg1263His | Missense | 23/34 | - | 1 |
9-139401302-G-A | c.3767C>T | p.Pro1256Leu | Missense | 23/34 | - | 1 |
9-139401304-G-T | c.3765C>A | p.Cys1255* | Nonsense | 23/34 | - | 1 |
9-139401322-G-A | c.3747C>T | p.Gly1249Gly | Synonymous | 23/34 | - | 1 |
9-139401362-G-A | c.3707C>T | p.Pro1236Leu | Missense | 23/34 | - | 1 |
9-139401384-C-T | c.3685G>A | p.Val1229Ile | Missense | 23/34 | - | 1 |
9-139401504-G-A | c.3644-79C>T | - | IntronicSNV | - | 22/33 | 3 |
9-139401760-G-A | c.3640C>T | p.Gln1214* | Nonsense | 22/34 | - | 1 |
9-139401768-C-T | c.3632G>A | p.Arg1211Gln | Missense | 22/34 | - | 1 |
9-139401772-G-T | c.3628C>A | p.Pro1210Thr | Missense | 22/34 | - | 1 |
9-139401796-G-A | c.3604C>T | p.Pro1202Ser | Missense | 22/34 | - | 1 |
9-139401802-C-T | c.3598G>A | p.Asp1200Asn | Missense | 22/34 | - | 1 |
9-139401813-C-T | c.3587G>A | p.Gly1196Asp | Missense | 22/34 | - | 1 |
9-139401817-C-T | c.3583G>A | p.Gly1195Arg | Missense | 22/34 | - | 2 |
9-139401817-C-G | c.3583G>C | p.Gly1195Arg | Missense | 22/34 | - | 2 |
9-139401847-C-T | c.3553G>A | p.Asp1185Asn | Missense | 22/34 | - | 1 |
9-139402419-G-A | c.3498C>T | p.Gly1166Gly | Synonymous | 21/34 | - | 1 |
9-139402423-C-T | c.3494G>A | p.Gly1165Asp | Missense | 21/34 | - | 1 |
9-139402489-T-C | c.3428A>G | p.Glu1143Gly | Missense | 21/34 | - | 1 |
9-139402504-G-A | c.3413C>T | p.Thr1138Ile | Missense | 21/34 | - | 1 |
9-139402515-C-G | c.3402G>C | p.Gln1134His | Missense | 21/34 | - | 1 |
9-139402516-T-C | c.3401A>G | p.Gln1134Arg | Missense | 21/34 | - | 1 |
9-139402519-C-T | c.3398G>A | p.Cys1133Tyr | Missense | 21/34 | - | 1 |
9-139402523-G-A | c.3394C>T | p.Arg1132Cys | Missense | 21/34 | - | 1 |
9-139402663-T-C | c.3325+21A>G | - | IntronicSNV | - | 20/33 | 2 |
9-139402687-G-A | c.3322C>T | p.Gln1108* | Nonsense | 20/34 | - | 1 |
9-139402699-C-T | c.3310G>A | p.Ala1104Thr | Missense | 20/34 | - | 1 |
9-139402720-G-A | c.3289C>T | p.Pro1097Ser | Missense | 20/34 | - | 1 |
9-139402728-C-T | c.3281G>A | p.Cys1094Tyr | Missense | 20/34 | - | 1 |
9-139402738-C-T | c.3271G>A | p.Gly1091Ser | Missense | 20/34 | - | 2 |
9-139402741-T-A | c.3268A>T | p.Thr1090Ser | Missense | 20/34 | - | 1 |
9-139402740-G-C | c.3269C>G | p.Thr1090Ser | Missense | 20/34 | - | 1 |
9-139402755-C-T | c.3254G>A | p.Cys1085Tyr | Missense | 20/34 | - | 1 |
9-139402758-T-C | c.3251A>G | p.Glu1084Gly | Missense | 20/34 | - | 1 |
9-139402760-G-A | c.3249C>T | p.Cys1083Cys | Synonymous | 20/34 | - | 1 |
9-139402760-G-C | c.3249C>G | p.Cys1083Trp | Missense | 20/34 | - | 1 |
9-139402771-G-A | c.3238C>T | p.Gln1080* | Nonsense | 20/34 | - | 1 |
9-139402773-GT-TG | c.3235_3236delinsCA | p.Thr1079His | Missense | 20/34 | - | 1 |
9-139402795-C-T | c.3214G>A | p.Gly1072Ser | Missense | 20/34 | - | 1 |
9-139402806-C-T | c.3203G>A | p.Cys1068Tyr | Missense | 20/34 | - | 1 |
9-139402908-T-C | c.3172-71A>G | - | IntronicSNV | - | 19/33 | 2 |
9-139402908-T-G | c.3172-71A>C | - | IntronicSNV | - | 19/33 | 1 |
9-139403243-GG-GGGG | c.3171+80_3171+81dup | - | IntronicInsertion | - | 19/33 | 1 |
9-139403244-G-GG | c.3171+81dup | - | IntronicInsertion | - | 19/33 | 1 |
9-139403268-T-A | c.3171+54A>T | - | IntronicSNV | - | 19/33 | 1 |
9-139403268-T-C | c.3171+54A>G | - | IntronicSNV | - | 19/33 | 2 |
9-139403280-C-T | c.3171+42G>A | - | IntronicSNV | - | 19/33 | 1 |
9-139403280-C-G | c.3171+42G>C | - | IntronicSNV | - | 19/33 | 1 |
9-139403368-GA-AT | c.3124_3125delinsAT | p.Ser1042Ile | Missense | 19/34 | - | 1 |
9-139403440-CA-AC | c.3052_3053delinsGT | p.Cys1018Val | Missense | 19/34 | - | 1 |
9-139403446-C-A | c.3047G>T | p.Ser1016Ile | Missense | 19/34 | - | 1 |
9-139403449-C-T | c.3044G>A | p.Gly1015Asp | Missense | 19/34 | - | 1 |
9-139403452-G-A | c.3041C>T | p.Thr1014Met | Missense | 19/34 | - | 1 |
9-139403464-G-A | c.3029C>T | p.Pro1010Leu | Missense | 19/34 | - | 1 |
9-139403482-G-A | c.3011C>T | p.Ser1004Leu | Missense | 19/34 | - | 2 |
9-139403504-T-C | c.2989A>G | p.Thr997Ala | Missense | 19/34 | - | 1 |
9-139403510-C-T | c.2983G>A | p.Gly995Ser | Missense | 19/34 | - | 1 |
9-139403554-T-C | c.2970-31A>G | - | IntronicSNV | - | 18/33 | 2 |
9-139403770-G-A | c.2970-247C>T | - | IntronicSNV | - | 18/33 | 3 |
9-139404201-G-C | c.2953C>G | p.Pro985Ala | Missense | 18/34 | - | 1 |
9-139404246-T-C | c.2908A>G | p.Thr970Ala | Missense | 18/34 | - | 1 |
9-139404256-G-C | c.2898C>G | p.Ser966Arg | Missense | 18/34 | - | 1 |
9-139404292-G-T | c.2862C>A | p.Cys954* | Nonsense | 18/34 | - | 1 |
9-139404329-C-T | c.2825G>A | p.Cys942Tyr | Missense | 18/34 | - | 1 |
9-139404360-C-T | c.2794G>A | p.Asp932Asn | Missense | 18/34 | - | 1 |
9-139404895-C-G | c.2740+210G>C | - | IntronicSNV | - | 17/33 | 1 |
9-139404895-C-T | c.2740+210G>A | - | IntronicSNV | - | 17/33 | 1 |
9-139405093-G-A | c.2740+12C>T | - | IntronicSNV | - | 17/33 | 2 |
9-139405093-G-C | c.2740+12C>G | - | IntronicSNV | - | 17/33 | 2 |
9-139405093-G-T | c.2740+12C>A | - | IntronicSNV | - | 17/33 | 2 |
9-139405111-G-A | c.2734C>T | p.Arg912Trp | Missense | 17/34 | - | 3 |
9-139405116-T-G | c.2729A>C | p.Asp910Ala | Missense | 17/34 | - | 1 |
9-139405132-C-A | c.2713G>T | p.Glu905* | Nonsense | 17/34 | - | 1 |
9-139405139-GCG-AAG | c.2705_2706delinsTT | p.Arg902Leu | Missense | 17/34 | - | 1 |
9-139405141-G-A | c.2704C>T | p.Arg902Cys | Missense | 17/34 | - | 1 |
9-139405154-G-A | c.2691C>T | p.Ala897Ala | Synonymous | 17/34 | - | 1 |
9-139405164-T-C | c.2681A>G | p.His894Arg | Missense | 17/34 | - | 1 |
9-139405181-G-A | c.2664C>T | p.His888His | Synonymous | 17/34 | - | 1 |
9-139405204-C-T | c.2641G>A | p.Gly881Ser | Missense | 17/34 | - | 1 |
9-139405223-A-G | c.2622T>C | p.Val874Val | Synonymous | 17/34 | - | 1 |
9-139405261-C-T | c.2588-4G>A | - | IntronicSNV | - | 16/33 | 4 |
9-139405261-C-A | c.2588-4G>T | - | IntronicSNV | - | 16/33 | 3 |
9-139405261-C-G | c.2588-4G>C | - | IntronicSNV | - | 16/33 | 3 |
9-139405361-A-G | c.2588-104T>C | - | IntronicSNV | - | 16/33 | 1 |
9-139405475-C-T | c.2587+129G>A | - | IntronicSNV | - | 16/33 | 1 |
9-139405501-A-C | c.2587+103T>G | - | IntronicSNV | - | 16/33 | 1 |
9-139405501-A-G | c.2587+103T>C | - | IntronicSNV | - | 16/33 | 1 |
9-139405501-A-T | c.2587+103T>A | - | IntronicSNV | - | 16/33 | 1 |
9-139405530-C-T | c.2587+74G>A | - | IntronicSNV | - | 16/33 | 1 |
9-139405649-C-T | c.2542G>A | p.Glu848Lys | Missense | 16/34 | - | 1 |
9-139405684-C-T | c.2507G>A | p.Ser836Asn | Missense | 16/34 | - | 1 |
9-139407452-C-A | c.2467+21G>T | - | IntronicSNV | - | 15/33 | 1 |
9-139407452-C-T | c.2467+21G>A | - | IntronicSNV | - | 15/33 | 2 |
9-139407501-G-C | c.2439C>G | p.Tyr813* | Nonsense | 15/34 | - | 1 |
9-139407501-G-T | c.2439C>A | p.Tyr813* | Nonsense | 15/34 | - | 1 |
9-139407505-C-T | c.2435G>A | p.Gly812Glu | Missense | 15/34 | - | 1 |
9-139407506-C-A | c.2434G>T | p.Gly812Trp | Missense | 15/34 | - | 2 |
9-139407560-C-A | c.2380G>T | p.Glu794* | Nonsense | 15/34 | - | 1 |
9-139407570-GG-TG | c.2370delinsA | p.Thr790Thr | Missense | 15/34 | - | 2 |
9-139407572-T-C | c.2368A>G | p.Thr790Ala | Missense | 15/34 | - | 1 |
9-139407845-G-A | c.2352C>T | p.Ser784Ser | Synonymous | 14/34 | - | 1 |
9-139407897-G-A | c.2300C>T | p.Thr767Ile | Missense | 14/34 | - | 1 |
9-139407932-A-G | c.2265T>C | p.Asn755Asn | Synonymous | 14/34 | - | 6 |
9-139407963-C-T | c.2234G>A | p.Trp745* | Nonsense | 14/34 | - | 1 |
9-139407968-A-C | c.2229T>G | p.Pro743Pro | Synonymous | 14/34 | - | 1 |
9-139407970-G-A | c.2227C>T | p.Pro743Ser | Missense | 14/34 | - | 1 |
9-139407978-TC-TG | c.2218delinsC | p.Asp740His | Missense | 14/34 | - | 1 |
9-139407979-C-T | c.2218G>A | p.Asp740Asn | Missense | 14/34 | - | 1 |
9-139407986-G-C | c.2211C>G | p.Tyr737* | Nonsense | 14/34 | - | 1 |
9-139407986-G-T | c.2211C>A | p.Tyr737* | Nonsense | 14/34 | - | 1 |
9-139408442-C-T | c.2208-453G>A | - | IntronicSNV | - | 13/33 | 1 |
9-139408892-C-T | c.2207+70G>A | - | IntronicSNV | - | 13/33 | 2 |
9-139408966-T-C | c.2203A>G | p.Asn735Asp | Missense | 13/34 | - | 1 |
9-139408990-G-A | c.2179C>T | p.His727Tyr | Missense | 13/34 | - | 1 |
9-139409016-T-C | c.2153A>G | p.Asn718Ser | Missense | 13/34 | - | 1 |
9-139409046-T-C | c.2123A>G | p.Tyr708Cys | Missense | 13/34 | - | 1 |
9-139409055-GG-GT | c.2113delinsA | p.Pro705Thr | Missense | 13/34 | - | 1 |
9-139409068-T-G | c.2101A>C | p.Thr701Pro | Missense | 13/34 | - | 1 |
9-139409090-G-T | c.2079C>A | p.Cys693* | Nonsense | 13/34 | - | 1 |
9-139409118-C-G | c.2051G>C | p.Gly684Ala | Missense | 13/34 | - | 1 |
9-139409122-C-T | c.2047G>A | p.Ala683Thr | Missense | 13/34 | - | 4 |
9-139409152-T-C | c.2017A>G | p.Ser673Gly | Missense | 13/34 | - | 1 |
9-139409548-C-A | c.2014+194G>T | - | IntronicSNV | - | 12/33 | 1 |
9-139409648-G-A | c.2014+94C>T | - | IntronicSNV | - | 12/33 | 2 |
9-139409754-G-A | c.2002C>T | p.Pro668Ser | Missense | 12/34 | - | 3 |
9-139409775-C-T | c.1981G>A | p.Gly661Ser | Missense | 12/34 | - | 4 |
9-139409822-ACA-A | c.1935_1936del | p.Ala646Glnfs*21 | Frameshift | 12/34 | - | 1 |
9-139409945-C-CC | c.1896dup | p.Thr633Aspfs*12 | Frameshift | 11/34 | - | 1 |
9-139409976-C-T | c.1862G>A | p.Arg621His | Missense | 11/34 | - | 2 |
9-139409980-C-A | c.1858G>T | p.Asp620Tyr | Missense | 11/34 | - | 1 |
9-139409985-CA-AC | c.1852_1853delinsGT | p.Cys618Val | Missense | 11/34 | - | 1 |
9-139410001-G-A | c.1837C>T | p.Arg613Cys | Missense | 11/34 | - | 1 |
9-139410010-G-A | c.1828C>T | p.Gln610* | Nonsense | 11/34 | - | 1 |
9-139410018-C-T | c.1820G>A | p.Cys607Tyr | Missense | 11/34 | - | 2 |
9-139410051-G-A | c.1787C>T | p.Thr596Met | Missense | 11/34 | - | 4 |
9-139410057-C-A | c.1781G>T | p.Gly594Val | Missense | 11/34 | - | 1 |
9-139410063-C-T | c.1775G>A | p.Arg592His | Missense | 11/34 | - | 1 |
9-139410075-G-A | c.1763C>T | p.Thr588Ile | Missense | 11/34 | - | 1 |
9-139410076-T-G | c.1762A>C | p.Thr588Pro | Missense | 11/34 | - | 1 |
9-139410118-G-A | c.1720C>T | p.Pro574Ser | Missense | 11/34 | - | 1 |
9-139410120-T-G | c.1718A>C | p.Asp573Ala | Missense | 11/34 | - | 2 |
9-139410121-C-G | c.1717G>C | p.Asp573His | Missense | 11/34 | - | 2 |
9-139410143-CAC-ATC | c.1694_1695delinsAT | p.Val565Asp | Missense | 11/34 | - | 1 |
9-139410177-T-C | c.1670-9A>G | - | IntronicSNV | - | 10/33 | 5 |
9-139410424-A-G | c.1669+9T>C | - | IntronicSNV | - | 10/33 | 1 |
9-139410440-G-T | c.1662C>A | p.Cys554* | Nonsense | 10/34 | - | 2 |
9-139410441-CA-AC | c.1660_1661delinsGT | p.Cys554Val | Missense | 10/34 | - | 1 |
9-139410447-C-T | c.1655G>A | p.Cys552Tyr | Missense | 10/34 | - | 1 |
9-139410451-T-TT | c.1651dup | p.Thr551Asnfs*19 | Frameshift | 10/34 | - | 1 |
9-139410452-TG-T | c.1650del | p.Tyr550* | Frameshift | 10/34 | - | 1 |
9-139410453-T-TT | c.1649dup | p.Tyr550* | Nonsense | 10/34 | - | 2 |
9-139410467-G-A | c.1635C>T | p.Asp545Asp | Synonymous | 10/34 | - | 1 |
9-139410521-G-T | c.1581C>A | p.Tyr527* | Nonsense | 10/34 | - | 1 |
9-139410521-G-C | c.1581C>G | p.Tyr527* | Nonsense | 10/34 | - | 1 |
9-139410589-A-G | c.1556-43T>C | - | IntronicSNV | - | 9/33 | 3 |
9-139410589-A-C | c.1556-43T>G | - | IntronicSNV | - | 9/33 | 2 |
9-139410679-T-C | c.1556-133A>G | - | IntronicSNV | - | 9/33 | 2 |
9-139411619-G-A | c.1555+105C>T | - | IntronicSNV | - | 9/33 | 2 |
9-139411622-G-C | c.1555+102C>G | - | IntronicSNV | - | 9/33 | 2 |
9-139411622-G-A | c.1555+102C>T | - | IntronicSNV | - | 9/33 | 2 |
9-139411638-G-A | c.1555+86C>T | - | IntronicSNV | - | 9/33 | 1 |
9-139411714-T-C | c.1555+10A>G | - | IntronicSNV | - | 9/33 | 3 |
9-139411714-T-G | c.1555+10A>C | - | IntronicSNV | - | 9/33 | 2 |
9-139411817-C-T | c.1462G>A | p.Glu488Lys | Missense | 9/34 | - | 1 |
9-139411822-T-A | c.1457A>T | p.His486Leu | Missense | 9/34 | - | 1 |
9-139411828-C-A | c.1451G>T | p.Gly484Val | Missense | 9/34 | - | 2 |
9-139411837-C-A | c.1442G>T | p.Gly481Val | Missense | 9/34 | - | 1 |
9-139411880-G-A | c.1442-43C>T | - | IntronicSNV | - | 8/33 | 2 |
9-139412197-G-C | c.1441+7C>G | - | IntronicSNV | - | 8/33 | 1 |
9-139412197-G-A | c.1441+7C>T | - | IntronicSNV | - | 8/33 | 2 |
9-139412204-C-T | c.1441G>A | p.Gly481Ser | Missense | 8/34 | - | 2 |
9-139412204-C-A | c.1441G>T | p.Gly481Cys | Missense | 8/34 | - | 1 |
9-139412212-C-A | c.1433G>T | p.Cys478Phe | Missense | 8/34 | - | 2 |
9-139412213-A-T | c.1432T>A | p.Cys478Ser | Missense | 8/34 | - | 1 |
9-139412212-C-G | c.1433G>C | p.Cys478Ser | Missense | 8/34 | - | 1 |
9-139412239-T-C | c.1406A>G | p.Asp469Gly | Missense | 8/34 | - | 2 |
9-139412240-C-A | c.1405G>T | p.Asp469Tyr | Missense | 8/34 | - | 1 |
9-139412240-C-T | c.1405G>A | p.Asp469Asn | Missense | 8/34 | - | 1 |
9-139412245-C-A | c.1400G>T | p.Cys467Phe | Missense | 8/34 | - | 1 |
9-139412245-C-T | c.1400G>A | p.Cys467Tyr | Missense | 8/34 | - | 1 |
9-139412249-T-A | c.1396A>T | p.Thr466Ser | Missense | 8/34 | - | 1 |
9-139412248-G-C | c.1397C>G | p.Thr466Ser | Missense | 8/34 | - | 1 |
9-139412249-T-C | c.1396A>G | p.Thr466Ala | Missense | 8/34 | - | 3 |
9-139412252-C-T | c.1393G>A | p.Ala465Thr | Missense | 8/34 | - | 7 |
9-139412266-G-A | c.1379C>T | p.Pro460Leu | Missense | 8/34 | - | 1 |
9-139412278-C-T | c.1367G>A | p.Cys456Tyr | Missense | 8/34 | - | 2 |
9-139412279-A-G | c.1366T>C | p.Cys456Arg | Missense | 8/34 | - | 2 |
9-139412282-C-T | c.1363G>A | p.Glu455Lys | Missense | 8/34 | - | 2 |
9-139412284-T-G | c.1361A>C | p.Asn454Thr | Missense | 8/34 | - | 1 |
9-139412284-GTTG-G | c.1360_1362del | p.Asn454del | InFrameDeletion | 8/34 | - | 1 |
9-139412297-C-T | c.1348G>A | p.Glu450Lys | Missense | 8/34 | - | 2 |
9-139412300-A-G | c.1345T>C | p.Cys449Arg | Missense | 8/34 | - | 2 |
9-139412302-C-T | c.1343G>A | p.Arg448Gln | Missense | 8/34 | - | 2 |
9-139412303-G-A | c.1342C>T | p.Arg448* | Nonsense | 8/34 | - | 1 |
9-139412311-G-A | c.1334C>T | p.Thr445Met | Missense | 8/34 | - | 2 |
9-139412326-C-A | c.1319G>T | p.Cys440Phe | Missense | 8/34 | - | 1 |
9-139412330-G-A | c.1315C>T | p.Gln439* | Nonsense | 8/34 | - | 1 |
9-139412339-A-G | c.1306T>C | p.Phe436Leu | Missense | 8/34 | - | 1 |
9-139412337-G-T | c.1308C>A | p.Phe436Leu | Missense | 8/34 | - | 1 |
9-139412337-G-C | c.1308C>G | p.Phe436Leu | Missense | 8/34 | - | 1 |
9-139412342-A-C | c.1303T>G | p.Ser435Ala | Missense | 8/34 | - | 1 |
9-139412345-C-A | c.1300G>T | p.Gly434Cys | Missense | 8/34 | - | 1 |
9-139412359-C-T | c.1286G>A | p.Cys429Tyr | Missense | 8/34 | - | 1 |
9-139412360-A-C | c.1285T>G | p.Cys429Gly | Missense | 8/34 | - | 1 |
9-139412360-A-G | c.1285T>C | p.Cys429Arg | Missense | 8/34 | - | 1 |
9-139412360-A-T | c.1285T>A | p.Cys429Ser | Missense | 8/34 | - | 2 |
9-139412359-C-G | c.1286G>C | p.Cys429Ser | Missense | 8/34 | - | 2 |
9-139412365-C-T | c.1280G>A | p.Gly427Asp | Missense | 8/34 | - | 1 |
9-139412375-C-T | c.1270G>A | p.Glu424Lys | Missense | 8/34 | - | 2 |
9-139412381-G-A | c.1264C>T | p.Pro422Ser | Missense | 8/34 | - | 1 |
9-139412599-C-A | c.1245G>T | p.Glu415Asp | Missense | 7/34 | - | 1 |
9-139412599-C-G | c.1245G>C | p.Glu415Asp | Missense | 7/34 | - | 1 |
9-139412624-G-C | c.1220C>G | p.Pro407Arg | Missense | 7/34 | - | 2 |
9-139412639-G-T | c.1205C>A | p.Ser402* | Nonsense | 7/34 | - | 2 |
9-139412643-G-A | c.1201C>T | p.Pro401Ser | Missense | 7/34 | - | 1 |
9-139412649-T-G | c.1195A>C | p.Thr399Pro | Missense | 7/34 | - | 1 |
9-139412673-G-A | c.1171C>T | p.Pro391Ser | Missense | 7/34 | - | 3 |
9-139412683-G-C | c.1161C>G | p.Cys387Trp | Missense | 7/34 | - | 1 |
9-139412690-G-T | c.1154C>A | p.Ser385Tyr | Missense | 7/34 | - | 1 |
9-139412693-C-T | c.1151G>A | p.Gly384Asp | Missense | 7/34 | - | 1 |
9-139412714-GA-G | c.1130del | p.Ile377Thrfs*254 | Frameshift | 7/34 | - | 1 |
9-139412717-C-A | c.1127G>T | p.Cys376Phe | Missense | 7/34 | - | 1 |
9-139412720-G-C | c.1124C>G | p.Ala375Gly | Missense | 7/34 | - | 2 |
9-139412884-C-T | c.1100-140G>A | - | IntronicSNV | - | 6/33 | 1 |
9-139413047-GC-AA | c.1094_1095delinsTT | p.Arg365Leu | Missense | 6/34 | - | 1 |
9-139413048-C-T | c.1094G>A | p.Arg365His | Missense | 6/34 | - | 1 |
9-139413049-G-A | c.1093C>T | p.Arg365Cys | Missense | 6/34 | - | 5 |
9-139413059-A-G | c.1083T>C | p.Cys361Cys | Synonymous | 6/34 | - | 1 |
9-139413064-C-T | c.1078G>A | p.Glu360Lys | Missense | 6/34 | - | 1 |
9-139413065-G-T | c.1077C>A | p.Cys359* | Nonsense | 6/34 | - | 1 |
9-139413072-GAAG-G | c.1070_1072del | p.Phe357del | InFrameDeletion | 6/34 | - | 1 |
9-139413072-A-G | c.1070T>C | p.Phe357Ser | Missense | 6/34 | - | 3 |
9-139413075-G-A | c.1067C>T | p.Ser356Phe | Missense | 6/34 | - | 1 |
9-139413084-C-T | c.1058G>A | p.Arg353His | Missense | 6/34 | - | 2 |
9-139413085-G-A | c.1057C>T | p.Arg353Cys | Missense | 6/34 | - | 2 |
9-139413087-T-C | c.1055A>G | p.Asp352Gly | Missense | 6/34 | - | 1 |
9-139413087-T-A | c.1055A>T | p.Asp352Val | Missense | 6/34 | - | 1 |
9-139413097-T-G | c.1045A>C | p.Thr349Pro | Missense | 6/34 | - | 1 |
9-139413100-C-G | c.1042G>C | p.Ala348Pro | Missense | 6/34 | - | 1 |
9-139413102-C-T | c.1040G>A | p.Gly347Asp | Missense | 6/34 | - | 2 |
9-139413109-A-T | c.1033T>A | p.Phe345Ile | Missense | 6/34 | - | 2 |
9-139413119-G-T | c.1023C>A | p.Ser341Arg | Missense | 6/34 | - | 1 |
9-139413130-C-T | c.1012G>A | p.Asp338Asn | Missense | 6/34 | - | 1 |
9-139413163-A-T | c.979T>A | p.Trp327Arg | Missense | 6/34 | - | 1 |
9-139413163-A-G | c.979T>C | p.Trp327Arg | Missense | 6/34 | - | 1 |
9-139413166-C-T | c.976G>A | p.Gly326Ser | Missense | 6/34 | - | 1 |
9-139413177-CAC-C | c.970_971del | p.Val324Glnfs*6 | Frameshift | 6/34 | - | 1 |
9-139413198-G-A | c.944C>T | p.Thr315Ile | Missense | 6/34 | - | 6 |
9-139413211-T-G | c.931A>C | p.Thr311Pro | Missense | 6/34 | - | 2 |
9-139413214-C-T | c.928G>A | p.Gly310Arg | Missense | 6/34 | - | 4 |
9-139413223-G-C | c.919C>G | p.Gln307Glu | Missense | 6/34 | - | 1 |
9-139413248-C-G | c.894G>C | p.Glu298Asp | Missense | 6/34 | - | 1 |
9-139413248-C-A | c.894G>T | p.Glu298Asp | Missense | 6/34 | - | 1 |
9-139413250-C-A | c.892G>T | p.Glu298* | Nonsense | 6/34 | - | 1 |
9-139413267-C-T | c.875G>A | p.Cys292Tyr | Missense | 6/34 | - | 1 |
9-139413274-G-GG | c.868dup | p.Gln290Profs*41 | SpliceAcceptorInsertion | 6/34 | - | 1 |
9-139413274-G-A | c.868C>T | p.Gln290* | Nonsense | 6/34 | - | 1 |
9-139413897-G-A | c.863C>T | p.Thr288Ile | Missense | 5/34 | - | 1 |
9-139413900-C-T | c.860G>A | p.Trp287* | Nonsense | 5/34 | - | 1 |
9-139413899-C-T | c.861G>A | p.Trp287* | Nonsense | 5/34 | - | 1 |
9-139413904-C-A | c.856G>T | p.Glu286* | Nonsense | 5/34 | - | 1 |
9-139413904-C-T | c.856G>A | p.Glu286Lys | Missense | 5/34 | - | 1 |
9-139413908-C-A | c.852G>T | p.Pro284Pro | Synonymous | 5/34 | - | 2 |
9-139413908-C-G | c.852G>C | p.Pro284Pro | Synonymous | 5/34 | - | 2 |
9-139413908-C-T | c.852G>A | p.Pro284Pro | Synonymous | 5/34 | - | 2 |
9-139413909-G-A | c.851C>T | p.Pro284Leu | Missense | 5/34 | - | 2 |
9-139413921-T-C | c.839A>G | p.Asn280Ser | Missense | 5/34 | - | 1 |
9-139413966-T-A | c.794A>T | p.Asn265Ile | Missense | 5/34 | - | 1 |
9-139413994-C-A | c.766G>T | p.Glu256* | Nonsense | 5/34 | - | 1 |
9-139413997-C-T | c.763G>A | p.Glu255Lys | Missense | 5/34 | - | 1 |
9-139414018-C-A | c.743-1G>T | - | IntronicSNV | - | 4/33 | 1 |
9-139414839-G-C | c.743-822C>G | - | IntronicSNV | - | 4/33 | 2 |
9-139414839-G-A | c.743-822C>T | - | IntronicSNV | - | 4/33 | 2 |
9-139417302-C-A | c.742G>T | p.Gly248Cys | Missense | 4/34 | - | 1 |
9-139417305-G-A | c.739C>T | p.Pro247Ser | Missense | 4/34 | - | 1 |
9-139417320-C-T | c.724G>A | p.Glu242Lys | Missense | 4/34 | - | 1 |
9-139417355-C-T | c.689G>A | p.Gly230Glu | Missense | 4/34 | - | 1 |
9-139417371-A-G | c.673T>C | p.Ser225Pro | Missense | 4/34 | - | 1 |
9-139417386-C-T | c.658G>A | p.Val220Met | Missense | 4/34 | - | 1 |
9-139417445-C-A | c.599G>T | p.Gly200Val | Missense | 4/34 | - | 1 |
9-139417446-C-G | c.598G>C | p.Gly200Arg | Missense | 4/34 | - | 2 |
9-139417457-T-C | c.587A>G | p.His196Arg | Missense | 4/34 | - | 1 |
9-139417464-T-G | c.580A>C | p.Thr194Pro | Missense | 4/34 | - | 2 |
9-139417466-C-G | c.578G>C | p.Gly193Ala | Missense | 4/34 | - | 1 |
9-139417466-C-T | c.578G>A | p.Gly193Asp | Missense | 4/34 | - | 1 |
9-139417489-C-A | c.555G>T | p.Lys185Asn | Missense | 4/34 | - | 1 |
9-139417491-T-C | c.553A>G | p.Lys185Glu | Missense | 4/34 | - | 1 |
9-139417529-C-A | c.515G>T | p.Gly172Val | Missense | 4/34 | - | 1 |
9-139417542-G-A | c.502C>T | p.Pro168Ser | Missense | 4/34 | - | 1 |
9-139417584-G-A | c.460C>T | p.Gln154* | Nonsense | 4/34 | - | 1 |
9-139417597-CGCAGGGG-C | c.441_447del | p.Asn147Lysfs*128 | Frameshift | 4/34 | - | 1 |
9-139417601-G-A | c.443C>T | p.Pro148Leu | Missense | 4/34 | - | 1 |
9-139417620-C-G | c.424G>C | p.Asp142His | Missense | 4/34 | - | 1 |
9-139417629-G-A | c.415C>T | p.Gln139* | Nonsense | 4/34 | - | 1 |
9-139417689-G-T | c.404-49C>A | - | IntronicSNV | - | 3/33 | 1 |
9-139417689-G-A | c.404-49C>T | - | IntronicSNV | - | 3/33 | 1 |
9-139418188-GCG-TGA | c.382_384delinsTCA | p.Arg128Ser | Nonsense | 3/34 | - | 1 |
9-139418202-C-A | c.370G>T | p.Glu124* | Nonsense | 3/34 | - | 1 |
9-139418204-G-A | c.368C>T | p.Thr123Met | Missense | 3/34 | - | 1 |
9-139418209-C-G | c.363G>C | p.Thr121Thr | Synonymous | 3/34 | - | 1 |
9-139418209-C-T | c.363G>A | p.Thr121Thr | Synonymous | 3/34 | - | 1 |
9-139418209-C-A | c.363G>T | p.Thr121Thr | Synonymous | 3/34 | - | 1 |
9-139418238-G-A | c.334C>T | p.Arg112Cys | Missense | 3/34 | - | 1 |
9-139418244-G-C | c.328C>G | p.Pro110Ala | Missense | 3/34 | - | 1 |
9-139418260-A-G | c.312T>C | p.Asn104Asn | Synonymous | 3/34 | - | 7 |
9-139418261-T-C | c.311A>G | p.Asn104Ser | Missense | 3/34 | - | 1 |
9-139418312-CA-GC | c.259_260delinsGC | p.Cys87Ala | Missense | 3/34 | - | 1 |
9-139418330-C-T | c.242G>A | p.Gly81Asp | Missense | 3/34 | - | 1 |
9-139418339-TC-TG | c.232delinsC | p.Asp78His | Missense | 3/34 | - | 1 |
9-139418387-G-A | c.185C>T | p.Pro62Leu | Missense | 3/34 | - | 1 |
9-139418394-G-C | c.178C>G | p.Pro60Ala | Missense | 3/34 | - | 2 |
9-139418400-G-A | c.172C>T | p.Gln58* | Nonsense | 3/34 | - | 1 |
9-139418402-CA-CT | c.169delinsA | p.Cys57Ser | Missense | 3/34 | - | 2 |
9-139418406-G-A | c.166C>T | p.Arg56* | Nonsense | 3/34 | - | 2 |
9-139418427-C-T | c.145G>A | p.Gly49Ser | Missense | 3/34 | - | 1 |
9-139418435-T-C | c.141-4A>G | - | IntronicSNV | - | 2/33 | 1 |
9-139425634-A-T | c.141-7203T>A | - | IntronicSNV | - | 2/33 | 3 |
9-139425634-A-G | c.141-7203T>C | - | IntronicSNV | - | 2/33 | 3 |
9-139427066-C-T | c.141-8635G>A | - | IntronicSNV | - | 2/33 | 3 |
9-139428909-C-T | c.140+9567G>A | - | IntronicSNV | - | 2/33 | 1 |
9-139431874-G-A | c.140+6602C>T | - | IntronicSNV | - | 2/33 | 1 |
9-139438509-T-A | c.107A>T | p.Lys36Met | Missense | 2/34 | - | 1 |
9-139438515-CC-AC | c.101delinsT | p.Gly34Val | Missense | 2/34 | - | 1 |
9-139438553-G-T | c.63C>A | p.Gly21Gly | Synonymous | 2/34 | - | 1 |
9-139438553-G-A | c.63C>T | p.Gly21Gly | Synonymous | 2/34 | - | 1 |
9-139438553-G-C | c.63C>G | p.Gly21Gly | Synonymous | 2/34 | - | 1 |
9-139440186-GC-TT | c.52_53delinsAA | p.Ala18Asn | Missense | 1/34 | - | 2 |
9-139440186-G-T | c.53C>A | p.Ala18Asp | Missense | 1/34 | - | 1 |
9-139440191-CGC-TTT | c.46_48delinsAAA | p.Ala16Lys | Missense | 1/34 | - | 1 |
9-139440232-G-A | c.7C>T | p.Pro3Ser | Missense | 1/34 | - | 1 |
9-139440390-A-T | c.-152T>A | - | IntergenicSNV | 1/34 | - | 1 |
9-139440390-A-G | c.-152T>C | - | IntergenicSNV | 1/34 | - | 1 |