NOTCH1 notch receptor 1

Canonical transcript: NM_017617

1342 unique variant annotations were identified in 603 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
9-139389184-A-G c.*1339T>C - 3-UTRSNV 34/34 - 6
9-139390073-G-GG c.*452dup - 3-UTRInsertion 34/34 - 1
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 - 9
9-139390517-C-T c.*6G>A - 3-UTRSNV 34/34 - 1
9-139390543-T-C c.7648A>G p.Ile2550Val Missense 34/34 - 2
9-139390546-G-A c.7645C>T p.Arg2549Cys Missense 34/34 - 1
9-139390575-G-A c.7616C>T p.Pro2539Leu 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 - 2
9-139390588-C-A c.7603G>T p.Gly2535Cys Missense 34/34 - 1
9-139390591-C-T c.7600G>A p.Glu2534Lys Missense 34/34 - 1
9-139390600-C-T c.7591G>A p.Asp2531Asn Missense 34/34 - 1
9-139390601-G-A c.7590C>T p.Ser2530Ser Synonymous 34/34 - 1
9-139390612-A-C c.7579T>G p.Ser2527Ala Missense 34/34 - 1
9-139390617-G-A c.7574C>T p.Pro2525Leu Missense 34/34 - 1
9-139390620-G-GG c.7574dup p.His2526Alafs*80 Frameshift 34/34 - 1
9-139390623-G-A c.7568C>T p.Ser2523Leu Missense 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
9-139390645-A-C c.7546T>G p.Ser2516Ala Missense 34/34 - 1
9-139390645-A-G c.7546T>C p.Ser2516Pro Missense 34/34 - 1
9-139390647-T-A c.7544A>T p.Glu2515Val Missense 34/34 - 1
9-139390648-C-A c.7543G>T p.Glu2515* Nonsense 34/34 - 2
9-139390648-C-T c.7543G>A p.Glu2515Lys Missense 34/34 - 1
9-139390648-TCAG-T c.7541_7543del p.Pro2514_Glu2515delinsGln MultiAAMissense 34/34 - 1
9-139390649-CA-C c.7542del p.Glu2515Serfs*74 Frameshift 34/34 - 2
9-139390649-CAG-C c.7541_7542del p.Pro2514Argfs*4 Frameshift 34/34 - 31
9-139390649-CAGG-C c.7540_7542del p.Pro2514del InFrameDeletion 34/34 - 1
9-139390650-G-C c.7541C>G p.Pro2514Arg Missense 34/34 - 2
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
9-139390651-G-GTTTA c.7539_7540insTAAA p.Pro2514* Nonsense 34/34 - 1
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
9-139390656-G-T c.7535C>A p.Pro2512Gln Missense 34/34 - 1
9-139390657-G-T c.7534C>A p.Pro2512Thr 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
9-139390659-G-GG c.7535dup p.Ser2513Valfs*3 Frameshift 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-A c.7518G>T p.Glu2506Asp Missense 34/34 - 1
9-139390673-C-G c.7518G>C p.Glu2506Asp Missense 34/34 - 1
9-139390675-C-A c.7516G>T p.Glu2506* Nonsense 34/34 - 2
9-139390676-A-C c.7515T>G p.Pro2505Pro Synonymous 34/34 - 2
9-139390680-A-AT c.7510_7511insA p.Val2504Aspfs*3 Frameshift 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 - 7
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 - 3
9-139390693-G-C c.7498C>G p.His2500Asp Missense 34/34 - 1
9-139390701-GG-G c.7494del p.Ser2499Alafs*90 Frameshift 34/34 - 1
9-139390711-C-T c.7480G>A p.Val2494Met Missense 34/34 - 1
9-139390716-G-T c.7475C>A p.Ser2492* Nonsense 34/34 - 5
9-139390721-G-C c.7470C>G p.Tyr2490* Nonsense 34/34 - 2
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 - 4
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 - 2
9-139390748-GG-G c.7444del p.Leu2482* Frameshift 34/34 - 2
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
9-139390765-C-T c.7426G>A p.Val2476Met Missense 34/34 - 2
9-139390768-GG-G c.7425del p.Val2476* Frameshift 34/34 - 1
9-139390779-G-T c.7412C>A p.Ser2471* 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
9-139390784-T-C c.7407A>G p.Pro2469Pro Synonymous 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
9-139390792-GA-G c.7399del p.Ser2467Argfs*10 Frameshift 34/34 - 2
9-139390794-G-A c.7397C>T p.Thr2466Met Missense 34/34 - 1
9-139390798-G-GGC c.7392_7393insGC p.Pro2465Alafs*13 Frameshift 34/34 - 2
9-139390804-C-G c.7387G>C p.Ala2463Pro Missense 34/34 - 1
9-139390804-C-T c.7387G>A p.Ala2463Thr Missense 34/34 - 1
9-139390808-G-GA c.7382_7383insT p.Ala2463Argfs*44 Frameshift 34/34 - 2
9-139390813-C-A c.7378G>T p.Glu2460* Nonsense 34/34 - 3
9-139390816-G-A c.7375C>T p.Gln2459* Nonsense 34/34 - 4
9-139390816-G-T c.7375C>A p.Gln2459Lys Missense 34/34 - 1
9-139390822-G-C c.7369C>G p.Leu2457Val Missense 34/34 - 8
9-139390822-G-GTA c.7368_7369insTA p.Leu2457Tyrfs*21 Frameshift 34/34 - 1
9-139390829-G-A c.7362C>T p.His2454His Synonymous 34/34 - 1
9-139390834-C-CGC c.7357_7358insCG p.Val2453Alafs*25 Frameshift 34/34 - 1
9-139390834-C-T c.7357G>A p.Val2453Met Missense 34/34 - 1
9-139390836-G-T c.7355C>A p.Ala2452Glu Missense 34/34 - 1
9-139390849-G-A c.7342C>T p.Pro2448Ser Missense 34/34 - 1
9-139390850-GG-G c.7344del p.Ser2449Alafs*28 Frameshift 34/34 - 1
9-139390861-G-A c.7330C>T p.Gln2444* Nonsense 34/34 - 4
9-139390863-A-ATC c.7327_7328insGA p.Val2443Glyfs*35 Frameshift 34/34 - 1
9-139390864-C-A c.7327G>T p.Val2443Leu Missense 34/34 - 1
9-139390864-C-G c.7327G>C p.Val2443Leu Missense 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 - 4
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
9-139390899-CC-C c.7293del p.Ser2432Alafs*3 Frameshift 34/34 - 1
9-139390901-GG-G c.7291del p.Arg2431Glyfs*4 Frameshift 34/34 - 1
9-139390902-C-G c.7289G>C p.Gly2430Ala Missense 34/34 - 2
9-139390908-GT-G c.7283del p.His2428Profs*7 Frameshift 34/34 - 1
9-139390912-CC-C c.7280del p.Gly2427Alafs*8 Frameshift 34/34 - 1
9-139390928-C-A c.7263G>T p.Val2421Val Synonymous 34/34 - 1
9-139390928-C-G c.7263G>C p.Val2421Val Synonymous 34/34 - 1
9-139390928-C-T c.7263G>A p.Val2421Val Synonymous 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
9-139390930-C-T c.7261G>A p.Val2421Met Missense 34/34 - 1
9-139390932-C-T c.7259G>A p.Gly2420Asp Missense 34/34 - 1
9-139390941-G-A c.7250C>T p.Pro2417Leu Missense 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 - 4
9-139390958-T-C c.7233A>G p.Pro2411Pro Synonymous 34/34 - 2
9-139390958-T-G c.7233A>C p.Pro2411Pro Synonymous 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 - 2
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 - 2
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 - 2
9-139391105-C-A c.7086G>T p.Met2362Ile Missense 34/34 - 1
9-139391105-C-G c.7086G>C p.Met2362Ile Missense 34/34 - 1
9-139391105-C-T c.7086G>A p.Met2362Ile Missense 34/34 - 1
9-139391119-C-G c.7072G>C p.Ala2358Pro Missense 34/34 - 1
9-139391181-G-C c.7010C>G p.Thr2337Arg 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
9-139391199-G-A c.6992C>T p.Ala2331Val 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
9-139391217-G-A c.6974C>T p.Pro2325Leu Missense 34/34 - 1
9-139391219-G-C c.6972C>G p.Asn2324Lys Missense 34/34 - 1
9-139391219-G-T c.6972C>A p.Asn2324Lys Missense 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
9-139391267-G-A c.6924C>T p.Cys2308Cys Synonymous 34/34 - 1
9-139391277-T-C c.6914A>G p.Asn2305Ser Missense 34/34 - 1
9-139391281-A-C c.6910T>G p.Leu2304Val Missense 34/34 - 1
9-139391284-T-C c.6907A>G p.Ser2303Gly Missense 34/34 - 1
9-139391302-T-G c.6889A>C p.Thr2297Pro Missense 34/34 - 1
9-139391321-G-A c.6870C>T p.Ser2290Ser Synonymous 34/34 - 2
9-139391334-AG-GC c.6856_6857delinsGC p.Leu2286Ala Missense 34/34 - 1
9-139391338-C-T c.6853G>A p.Val2285Ile Missense 34/34 - 5
9-139391348-TGC-T c.6842_6843del p.Gly2281Aspfs*72 Frameshift 34/34 - 1
9-139391352-G-C c.6839C>G p.Ser2280Cys Missense 34/34 - 1
9-139391355-G-A c.6836C>T p.Ala2279Val Missense 34/34 - 1
9-139391374-AGA-A c.6820_6821del p.Ser2274Profs*79 Frameshift 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 - 2
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 - 2
9-139391407-C-T c.6784G>A p.Gly2262Ser Missense 34/34 - 1
9-139391413-C-A c.6778G>T p.Gly2260Trp Missense 34/34 - 1
9-139391415-C-A c.6776G>T p.Gly2259Val Missense 34/34 - 1
9-139391436-T-C c.6755A>G p.Lys2252Arg Missense 34/34 - 1
9-139391442-G-A c.6749C>T p.Ala2250Val Missense 34/34 - 1
9-139391488-G-T c.6703C>A p.Pro2235Thr Missense 34/34 - 1
9-139391506-C-T c.6685G>A p.Val2229Met Missense 34/34 - 1
9-139391511-G-A c.6680C>T p.Pro2227Leu Missense 34/34 - 1
9-139391511-G-T c.6680C>A p.Pro2227Gln Missense 34/34 - 1
9-139391526-G-A c.6665C>T p.Pro2222Leu Missense 34/34 - 1
9-139391529-G-A c.6662C>T p.Ser2221Phe Missense 34/34 - 1
9-139391543-C-T c.6648G>A p.Pro2216Pro Synonymous 34/34 - 2
9-139391547-G-A c.6644C>T p.Ser2215Leu Missense 34/34 - 1
9-139391578-A-C c.6613T>G p.Ser2205Ala Missense 34/34 - 1
9-139391634-C-A c.6557G>T p.Gly2186Val Missense 34/34 - 1
9-139391636-G-A c.6555C>T p.Asp2185Asp Synonymous 34/34 - 16
9-139391647-TTCTTCCTCCGTGCCTT-T c.6530_6545del p.Lys2177Serfs*66 Frameshift 34/34 - 1
9-139391655-C-G c.6536G>C p.Arg2179Pro Missense 34/34 - 1
9-139391655-C-T c.6536G>A p.Arg2179Gln Missense 34/34 - 1
9-139391706-C-T c.6485G>A p.Ser2162Asn Missense 34/34 - 1
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
9-139391734-C-T c.6457G>A p.Val2153Met Missense 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 - 2
9-139391778-G-C c.6413C>G p.Pro2138Arg Missense 34/34 - 1
9-139391782-GCGA-CTTGTCGCTGGC c.6406_6409delinsGCCAGCGACAAG p.Ser2136Alafs*115 Frameshift 34/34 - 1
9-139391799-CC-AA c.6391_6392delinsTT p.Gly2131Phe Missense 34/34 - 1
9-139391806-G-C c.6385C>G p.Leu2129Val Missense 34/34 - 1
9-139391826-G-A c.6365C>T p.Pro2122Leu Missense 34/34 - 3
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
9-139391908-G-A c.6283C>T p.Arg2095Cys Missense 34/34 - 1
9-139391920-C-A c.6271G>T p.Asp2091Tyr Missense 34/34 - 1
9-139391937-G-C c.6254C>G p.Ala2085Gly Missense 34/34 - 1
9-139391945-G-C c.6246C>G p.Asp2082Glu Missense 34/34 - 1
9-139391945-G-T c.6246C>A p.Asp2082Glu Missense 34/34 - 1
9-139391956-C-A c.6235G>T p.Val2079Leu Missense 34/34 - 1
9-139391956-C-G c.6235G>C p.Val2079Leu Missense 34/34 - 1
9-139391982-C-T c.6209G>A p.Arg2070Gln Missense 34/34 - 1
9-139391983-G-A c.6208C>T p.Arg2070Trp Missense 34/34 - 1
9-139391998-G-C c.6193C>G p.Leu2065Val Missense 34/34 - 1
9-139392000-G-A c.6191C>T p.Pro2064Leu Missense 34/34 - 2
9-139392010-C-G c.6181G>C p.Glu2061Gln Missense 34/34 - 1
9-139393162-G-A c.6180+189C>T - IntronicSNV - 33/33 2
9-139393175-A-G c.6180+176T>C - IntronicSNV - 33/33 1
9-139393307-A-G c.6180+44T>C - IntronicSNV - 33/33 5
9-139393382-T-C c.6149A>G p.Asn2050Ser Missense 33/34 - 1
9-139393385-T-C c.6146A>G p.Lys2049Arg Missense 33/34 - 1
9-139393401-C-T c.6130G>A p.Ala2044Thr 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
9-139393449-C-T c.6083-1G>A - IntronicSNV - 32/33 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 - 2
9-139393621-C-A c.6025G>T p.Gly2009Cys 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 - 2
9-139393641-G-A c.6005C>T p.Ala2002Val Missense 32/34 - 1
9-139393656-G-A c.5990C>T p.Thr1997Met Missense 32/34 - 3
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 - 2
9-139393698-T-C c.5948A>G p.Asn1983Ser Missense 32/34 - 4
9-139393700-CC-AT c.5945_5946delinsAT p.Arg1982His Missense 32/34 - 1
9-139393704-A-G c.5942T>C p.Ile1981Thr 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
9-139394959-C-G c.5934+45G>C - IntronicSNV - 31/33 1
9-139394959-C-T c.5934+45G>A - IntronicSNV - 31/33 1
9-139395068-T-C c.5870A>G p.Gln1957Arg Missense 31/34 - 1
9-139395068-T-G c.5870A>C p.Gln1957Pro Missense 31/34 - 4
9-139395077-G-A c.5861C>T p.Ala1954Val Missense 31/34 - 1
9-139395089-G-A c.5849C>T p.Ala1950Val Missense 31/34 - 1
9-139395108-C-T c.5830G>A p.Ala1944Thr Missense 31/34 - 1
9-139395113-TC-TG c.5824delinsC p.Asp1942His Missense 31/34 - 1
9-139395138-G-T c.5800C>A p.Leu1934Met 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
9-139395161-C-A c.5777G>T p.Arg1926Leu Missense 31/34 - 1
9-139395161-C-T c.5777G>A p.Arg1926His Missense 31/34 - 1
9-139395171-G-A c.5767C>T p.Gln1923* Nonsense 31/34 - 2
9-139395178-C-T c.5760G>A p.Leu1920Leu Synonymous 31/34 - 1
9-139395211-G-A c.5727C>T p.Val1909Val Synonymous 31/34 - 1
9-139395211-G-C c.5727C>G p.Val1909Val Synonymous 31/34 - 1
9-139395211-G-T c.5727C>A p.Val1909Val Synonymous 31/34 - 1
9-139395215-G-A c.5723C>T p.Ala1908Val Missense 31/34 - 1
9-139395248-G-A c.5690C>T p.Thr1897Met Missense 31/34 - 1
9-139395259-G-A c.5679C>T p.Gly1893Gly Synonymous 31/34 - 1
9-139395269-CA-GC c.5668_5669delinsGC p.Cys1890Ala Missense 31/34 - 1
9-139395311-G-A c.5639-12C>T - IntronicSNV - 30/33 4
9-139395311-G-C c.5639-12C>G - IntronicSNV - 30/33 4
9-139395460-C-T c.5639-161G>A - IntronicSNV - 30/33 1
9-139395473-C-T c.5639-174G>A - IntronicSNV - 30/33 3
9-139396113-T-A c.5638+87A>T - IntronicSNV - 30/33 3
9-139396207-G-A c.5631C>T p.Arg1877Arg Synonymous 30/34 - 1
9-139396213-A-C c.5625T>G p.Asn1875Lys Missense 30/34 - 1
9-139396213-A-T c.5625T>A 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
9-139396231-G-A c.5607C>T p.Ala1869Ala Synonymous 30/34 - 1
9-139396231-G-C c.5607C>G p.Ala1869Ala Synonymous 30/34 - 1
9-139396231-G-T c.5607C>A p.Ala1869Ala Synonymous 30/34 - 1
9-139396233-C-A c.5605G>T p.Ala1869Ser Missense 30/34 - 1
9-139396242-C-T c.5596G>A p.Glu1866Lys Missense 30/34 - 1
9-139396259-G-A c.5579C>T p.Pro1860Leu Missense 30/34 - 1
9-139396305-G-C c.5533C>G p.Gln1845Glu Missense 30/34 - 1
9-139396309-C-T c.5529G>A p.Trp1843* Nonsense 30/34 - 4
9-139396335-C-T c.5503G>A p.Asp1835Asn Missense 30/34 - 1
9-139396408-A-G c.5473-43T>C - IntronicSNV - 29/33 8
9-139396454-C-T c.5471G>A p.Arg1824Gln Missense 29/34 - 1
9-139396473-G-C c.5452C>G p.Leu1818Val Missense 29/34 - 1
9-139396480-G-A c.5445C>T p.Asp1815Asp Synonymous 29/34 - 1
9-139396487-C-A c.5438G>T p.Trp1813Leu 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 2
9-139396730-C-G c.5378G>C p.Gly1793Ala Missense 28/34 - 1
9-139396740-C-A c.5368G>T p.Asp1790Tyr Missense 28/34 - 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-A c.5303G>T p.Trp1768Leu Missense 28/34 - 1
9-139396805-C-T c.5303G>A p.Trp1768* Nonsense 28/34 - 1
9-139396809-G-A c.5299C>T p.Leu1767Phe Missense 28/34 - 1
9-139396829-C-T c.5279G>A p.Arg1760His Missense 28/34 - 1
9-139396835-C-T c.5273G>A p.Arg1758His Missense 28/34 - 1
9-139396836-G-A c.5272C>T p.Arg1758Cys Missense 28/34 - 1
9-139396836-G-C c.5272C>G p.Arg1758Gly Missense 28/34 - 1
9-139396847-A-C c.5261T>G p.Val1754Gly Missense 28/34 - 1
9-139396851-C-A c.5257G>T p.Gly1753Trp Missense 28/34 - 1
9-139396879-G-A c.5229C>T p.Ala1743Ala Synonymous 28/34 - 1
9-139396884-C-A c.5224G>T p.Ala1742Ser Missense 28/34 - 1
9-139396890-C-A c.5218G>T p.Ala1740Ser Missense 28/34 - 2
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 3
9-139397557-C-G c.5167+77G>C - IntronicSNV - 27/33 2
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
9-139397639-A-T c.5162T>A p.Val1721Glu Missense 27/34 - 2
9-139397640-C-T c.5161G>A p.Val1721Met Missense 27/34 - 1
9-139397647-G-GCGG c.5154_5155insCGC p.Ile1718_Glu1719insArg InFrameInsertion 27/34 - 1
9-139397648-A-G c.5153T>C p.Ile1718Thr Missense 27/34 - 1
9-139397664-T-C c.5137A>G p.Asn1713Asp Missense 27/34 - 2
9-139397675-A-G c.5126T>C p.Leu1709Pro Missense 27/34 - 2
9-139397677-C-A c.5124G>T p.Ser1708Ser Synonymous 27/34 - 2
9-139397677-C-T c.5124G>A p.Ser1708Ser Synonymous 27/34 - 2
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
9-139397692-C-T c.5109G>A p.Leu1703Leu Synonymous 27/34 - 1
9-139397694-G-A c.5107C>T p.Leu1703Leu Synonymous 27/34 - 1
9-139397696-A-G c.5105T>C p.Phe1702Ser Missense 27/34 - 1
9-139397700-C-A c.5101G>T p.Ala1701Ser Missense 27/34 - 1
9-139397700-C-G c.5101G>C p.Ala1701Pro Missense 27/34 - 1
9-139397700-C-T c.5101G>A p.Ala1701Thr Missense 27/34 - 2
9-139397707-G-A c.5094C>T p.Asp1698Asp Synonymous 27/34 - 16
9-139397714-G-T c.5087C>A p.Ala1696Asp Missense 27/34 - 2
9-139397728-C-G c.5073G>C p.Gln1691His Missense 27/34 - 3
9-139397728-C-T c.5073G>A p.Gln1691Gln Synonymous 27/34 - 2
9-139397742-G-A c.5059C>T p.Gln1687* Nonsense 27/34 - 1
9-139397762-A-T c.5039T>A p.Ile1680Asn Missense 27/34 - 5
9-139397766-C-T c.5035G>A p.Glu1679Lys Missense 27/34 - 2
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 - 13
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 - 4
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 - 2
9-139397786-G-T c.5019-4C>A - IntronicSNV - 26/33 1
9-139397817-G-A c.5019-35C>T - IntronicSNV - 26/33 1
9-139397835-C-A c.5019-53G>T - IntronicSNV - 26/33 1
9-139397867-A-G c.5019-85T>C - IntronicSNV - 26/33 1
9-139399070-G-A c.5018+55C>T - IntronicSNV - 26/33 2
9-139399070-G-C c.5018+55C>G - IntronicSNV - 26/33 2
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 - 5
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
9-139399158-C-T c.4985G>A p.Arg1662Gln Missense 26/34 - 1
9-139399167-C-T c.4976G>A p.Gly1659Asp Missense 26/34 - 1
9-139399168-C-T c.4975G>A p.Gly1659Ser Missense 26/34 - 1
9-139399191-G-A c.4952C>T p.Ser1651Leu Missense 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
9-139399193-G-T c.4950C>A p.Ala1650Ala Synonymous 26/34 - 1
9-139399195-C-T c.4948G>A p.Ala1650Thr Missense 26/34 - 1
9-139399211-C-A c.4932G>T p.Leu1644Leu Synonymous 26/34 - 2
9-139399211-C-G c.4932G>C p.Leu1644Leu Synonymous 26/34 - 2
9-139399211-C-T c.4932G>A p.Leu1644Leu Synonymous 26/34 - 2
9-139399213-G-A c.4930C>T p.Leu1644Leu Synonymous 26/34 - 3
9-139399222-G-A c.4921C>T p.Pro1641Ser Missense 26/34 - 1
9-139399228-C-T c.4915G>A p.Ala1639Thr Missense 26/34 - 1
9-139399230-C-A c.4913G>T p.Trp1638Leu Missense 26/34 - 1
9-139399230-CA-AC c.4912_4913delinsGT p.Trp1638Val Missense 26/34 - 1
9-139399230-C-T c.4913G>A p.Trp1638* Nonsense 26/34 - 2
9-139399236-T-G c.4907A>C p.Glu1636Ala Missense 26/34 - 1
9-139399237-C-T c.4906G>A p.Glu1636Lys Missense 26/34 - 2
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 - 3
9-139399263-C-A c.4880G>T p.Arg1627Leu Missense 26/34 - 1
9-139399263-C-T c.4880G>A p.Arg1627His Missense 26/34 - 2
9-139399272-CTCCTCGCGGCCGTAGTAGGGGAAGATCATCTGCTGGCCGTGTGCGTCACGCTTGAAGAC-C c.4814_4872del p.Val1605Glyfs*18 SpliceAcceptorDeletion 26/34 - 1
9-139399276-C-T c.4867G>A p.Glu1623Lys Missense 26/34 - 2
9-139399285-A-T c.4858T>A p.Tyr1620Asn Missense 26/34 - 1
9-139399286-G-C c.4857C>G p.Tyr1619* Nonsense 26/34 - 2
9-139399286-G-T c.4857C>A p.Tyr1619* Nonsense 26/34 - 2
9-139399296-A-T c.4847T>A p.Ile1616Asn Missense 26/34 - 3
9-139399298-C-A c.4845G>T p.Met1615Ile Missense 26/34 - 1
9-139399298-C-G c.4845G>C 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 - 2
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
9-139399325-G-GTCC c.4817_4818insGGA p.Phe1606delinsLeuAsp 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
9-139399332-A-C c.4811T>G p.Val1604Gly Missense 26/34 - 1
9-139399332-AC-CA c.4810_4811delinsTG p.Val1604Trp Missense 26/34 - 1
9-139399334-G-A c.4809C>T p.Asn1603Asn Synonymous 26/34 - 1
9-139399334-G-C c.4809C>G p.Asn1603Lys Missense 26/34 - 1
9-139399334-G-T c.4809C>A 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 - 8
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 - 4
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-G c.4793G>C p.Arg1598Pro Missense 26/34 - 9
9-139399350-C-T c.4793G>A p.Arg1598His Missense 26/34 - 3
9-139399351-G-A c.4792C>T p.Arg1598Cys Missense 26/34 - 1
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 - 3
9-139399357-G-A c.4786C>T p.Leu1596Phe 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 - 7
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-C c.4775T>G p.Phe1592Cys Missense 26/34 - 1
9-139399368-A-G c.4775T>C p.Phe1592Ser Missense 26/34 - 7
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
9-139399375-A-G c.4768T>C p.Phe1590Leu Missense 26/34 - 1
9-139399386-C-T c.4757G>A p.Arg1586His Missense 26/34 - 1
9-139399389-A-G c.4754T>C p.Leu1585Pro Missense 26/34 - 7
9-139399389-A-T c.4754T>A p.Leu1585Gln Missense 26/34 - 1
9-139399391-C-A c.4752G>T p.Gln1584His Missense 26/34 - 1
9-139399391-C-G c.4752G>C 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
9-139399398-G-A c.4745C>T p.Pro1582Leu Missense 26/34 - 1
9-139399401-CGGC-C c.4744_4746del p.Pro1582del InFrameDeletion 26/34 - 3
9-139399401-G-A c.4742C>T p.Pro1581Leu Missense 26/34 - 3
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
9-139399410-A-T c.4733T>A p.Val1578Glu 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
9-139399419-A-G c.4724T>C p.Val1575Ala Missense 26/34 - 2
9-139399420-ACCA-A c.4732_4734del p.Val1578del InFrameDeletion 26/34 - 16
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
9-139399420-C-T c.4723G>A p.Val1575Met Missense 26/34 - 2
9-139399422-A-G c.4721T>C p.Leu1574Pro Missense 26/34 - 10
9-139399425-G-A c.4718C>T p.Thr1573Met Missense 26/34 - 1
9-139399428-C-T c.4715G>A p.Gly1572Asp Missense 26/34 - 2
9-139399432-C-T c.4711G>A p.Ala1571Thr Missense 26/34 - 1
9-139399441-T-G c.4702A>C p.Arg1568Arg Synonymous 26/34 - 1
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 - 3
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
9-139399471-C-T c.4672G>A p.Gly1558Arg Missense 26/34 - 1
9-139399476-C-CT c.4666_4667insA p.Trp1556* Nonsense 26/34 - 1
9-139399480-C-A c.4663G>T p.Glu1555* Nonsense 26/34 - 1
9-139399482-C-G c.4661G>C p.Cys1554Ser Missense 26/34 - 1
9-139399483-A-T c.4660T>A 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
9-139399507-C-A c.4636G>T p.Asp1546Tyr Missense 26/34 - 1
9-139399512-T-G c.4631A>C p.His1544Pro Missense 26/34 - 1
9-139399515-CC-AC c.4628delinsT p.Gly1543Val Missense 26/34 - 1
9-139399515-C-G c.4628G>C p.Gly1543Ala 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
9-139399522-T-G c.4621A>C p.Ser1541Arg Missense 26/34 - 1
9-139399521-C-T c.4622G>A p.Ser1541Asn Missense 26/34 - 1
9-139399523-TG-T c.4620del p.Phe1540Leufs*40 Frameshift 26/34 - 1
9-139399530-T-G c.4613A>C p.Asp1538Ala Missense 26/34 - 1
9-139399536-C-T c.4607G>A p.Cys1536Tyr Missense 26/34 - 2
9-139399545-T-C c.4598A>G p.Asp1533Gly Missense 26/34 - 1
9-139399545-T-G c.4598A>C p.Asp1533Ala Missense 26/34 - 1
9-139399641-G-A c.4587-85C>T - IntronicSNV - 25/33 9
9-139399777-G-A c.4571C>T p.Ala1524Val Missense 25/34 - 1
9-139399781-G-A c.4567C>T p.Arg1523Cys Missense 25/34 - 1
9-139399784-G-A c.4564C>T p.Gln1522* Nonsense 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
9-139399826-G-A c.4522C>T p.Gln1508* Nonsense 25/34 - 1
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 - 3
9-139399863-C-CC c.4485dup p.Cys1496Valfs*7 Frameshift 25/34 - 1
9-139399865-G-A c.4483C>T p.Gln1495* Nonsense 25/34 - 1
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
9-139399897-T-C c.4451A>G p.Asn1484Ser 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
9-139400002-C-T c.4346G>A p.Cys1449Tyr 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
9-139400033-C-G c.4315G>C p.Asp1439His Missense 25/34 - 1
9-139400033-C-T c.4315G>A p.Asp1439Asn Missense 25/34 - 1
9-139400035-C-T c.4313G>A p.Arg1438His Missense 25/34 - 1
9-139400036-G-A c.4312C>T p.Arg1438Cys Missense 25/34 - 2
9-139400038-C-A c.4310G>T p.Gly1437Val Missense 25/34 - 1
9-139400051-C-CCTC c.4297_4298insAGG p.Phe1432_Gly1433insGlu InFrameInsertion 25/34 - 1
9-139400083-C-T c.4265G>A p.Gly1422Glu Missense 25/34 - 1
9-139400107-C-G c.4241G>C p.Cys1414Ser 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 - 3
9-139400165-T-C c.4183A>G p.Asn1395Asp Missense 25/34 - 1
9-139400172-C-A c.4176G>T p.Leu1392Leu Synonymous 25/34 - 1
9-139400172-C-G c.4176G>C p.Leu1392Leu Synonymous 25/34 - 1
9-139400172-C-T c.4176G>A p.Leu1392Leu Synonymous 25/34 - 1
9-139400174-G-A c.4174C>T p.Leu1392Leu Synonymous 25/34 - 1
9-139400180-G-T c.4168C>A p.Pro1390Thr Missense 25/34 - 9
9-139400192-G-T c.4156C>A p.Pro1386Thr Missense 25/34 - 1
9-139400200-C-T c.4148G>A p.Cys1383Tyr Missense 25/34 - 3
9-139400212-G-A c.4136C>T p.Thr1379Met Missense 25/34 - 2
9-139400219-G-A c.4129C>T p.Pro1377Ser Missense 25/34 - 11
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
9-139400235-G-A c.4113C>T p.Thr1371Thr Synonymous 25/34 - 1
9-139400235-G-C c.4113C>G p.Thr1371Thr Synonymous 25/34 - 1
9-139400235-G-T c.4113C>A p.Thr1371Thr Synonymous 25/34 - 1
9-139400244-G-A c.4104C>T p.Arg1368Arg Synonymous 25/34 - 1
9-139400249-G-A c.4099C>T p.Pro1367Ser Missense 25/34 - 1
9-139400269-GCCG-G c.4081_4083del p.Gly1361del InFrameDeletion 25/34 - 1
9-139400278-C-T c.4070G>A p.Cys1357Tyr Missense 25/34 - 1
9-139400281-C-T c.4067G>A p.Arg1356His Missense 25/34 - 1
9-139400282-G-A c.4066C>T p.Arg1356Cys 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
9-139400306-C-T c.4042G>A p.Asp1348Asn Missense 25/34 - 1
9-139400320-G-A c.4028C>T p.Ala1343Val Missense 25/34 - 11
9-139400324-C-T c.4024G>A p.Gly1342Ser Missense 25/34 - 1
9-139400406-C-T c.4015-73G>A - IntronicSNV - 24/33 3
9-139400904-C-T c.4014+75G>A - IntronicSNV - 24/33 3
9-139400981-C-T c.4012G>A p.Ala1338Thr Missense 24/34 - 1
9-139400983-G-C c.4010C>G p.Pro1337Arg 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
9-139401017-A-G c.3976T>C p.Ser1326Pro Missense 24/34 - 1
9-139401020-C-T c.3973G>A p.Ala1325Thr Missense 24/34 - 1
9-139401023-ACGGCGCA-A c.3966_3972del p.Cys1322Trpfs*121 Frameshift 24/34 - 1
9-139401028-C-A c.3965G>T p.Cys1322Phe Missense 24/34 - 1
9-139401049-G-C c.3944C>G p.Pro1315Arg Missense 24/34 - 1
9-139401077-A-G c.3916T>C p.Ser1306Pro Missense 24/34 - 1
9-139401080-C-T c.3913G>A p.Glu1305Lys Missense 24/34 - 1
9-139401093-T-A c.3902-2A>T - IntronicSNV - 23/33 1
9-139401093-T-C c.3902-2A>G - IntronicSNV - 23/33 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 - 2
9-139401208-G-A c.3861C>T p.Arg1287Arg Synonymous 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-CG-GA c.3835_3836delinsTC p.Arg1279Ser Missense 23/34 - 1
9-139401233-C-T c.3836G>A p.Arg1279His Missense 23/34 - 12
9-139401234-G-A c.3835C>T p.Arg1279Cys Missense 23/34 - 2
9-139401234-G-T c.3835C>A p.Arg1279Ser Missense 23/34 - 1
9-139401238-G-A c.3831C>T p.Asp1277Asp Synonymous 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
9-139401266-A-G c.3803T>C p.Val1268Ala Missense 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
9-139401312-A-C c.3757T>G p.Cys1253Gly Missense 23/34 - 1
9-139401322-G-A c.3747C>T p.Gly1249Gly Synonymous 23/34 - 1
9-139401346-G-A c.3723C>T p.Asn1241Asn Synonymous 23/34 - 1
9-139401362-G-A c.3707C>T p.Pro1236Leu Missense 23/34 - 1
9-139401364-G-C c.3705C>G p.Ser1235Arg Missense 23/34 - 1
9-139401368-C-T c.3701G>A p.Arg1234Gln Missense 23/34 - 1
9-139401375-C-T c.3694G>A p.Val1232Met Missense 23/34 - 1
9-139401379-G-A c.3690C>T p.Asp1230Asp Synonymous 23/34 - 1
9-139401384-C-T c.3685G>A p.Val1229Ile Missense 23/34 - 1
9-139401397-G-C c.3672C>G p.Asp1224Glu Missense 23/34 - 1
9-139401405-C-T c.3664G>A p.Val1222Met Missense 23/34 - 1
9-139401406-G-A c.3663C>T p.Asn1221Asn Synonymous 23/34 - 1
9-139401504-G-A c.3644-79C>T - IntronicSNV - 22/33 6
9-139401565-A-G c.3644-140T>C - IntronicSNV - 22/33 2
9-139401577-C-A c.3644-152G>T - IntronicSNV - 22/33 2
9-139401577-C-G c.3644-152G>C - IntronicSNV - 22/33 2
9-139401646-T-C c.3643+111A>G - IntronicSNV - 22/33 2
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
9-139401769-G-A c.3631C>T p.Arg1211Trp Missense 22/34 - 1
9-139401772-G-T c.3628C>A p.Pro1210Thr Missense 22/34 - 1
9-139401780-C-A c.3620G>T p.Cys1207Phe Missense 22/34 - 1
9-139401780-C-G c.3620G>C p.Cys1207Ser Missense 22/34 - 1
9-139401787-A-G c.3613T>C p.Tyr1205His 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
9-139401803-G-A c.3597C>T p.Leu1199Leu Synonymous 22/34 - 1
9-139401813-C-T c.3587G>A p.Gly1196Asp Missense 22/34 - 1
9-139401817-C-G c.3583G>C p.Gly1195Arg Missense 22/34 - 2
9-139401817-C-T c.3583G>A p.Gly1195Arg Missense 22/34 - 2
9-139401831-T-C c.3569A>G p.His1190Arg Missense 22/34 - 1
9-139401847-C-T c.3553G>A p.Asp1185Asn Missense 22/34 - 1
9-139401858-G-A c.3542C>T p.Ser1181Phe Missense 22/34 - 1
9-139401871-C-A c.3529G>T p.Gly1177Trp Missense 22/34 - 1
9-139401876-T-C c.3524A>G p.Tyr1175Cys Missense 22/34 - 1
9-139401879-C-G c.3521G>C p.Gly1174Ala Missense 22/34 - 1
9-139401885-A-G c.3515T>C p.Val1172Ala 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
9-139402438-C-T c.3479G>A p.Cys1160Tyr Missense 21/34 - 1
9-139402448-C-G c.3469G>C p.Gly1157Arg Missense 21/34 - 1
9-139402448-C-T c.3469G>A p.Gly1157Arg Missense 21/34 - 1
9-139402472-A-G c.3445T>C p.Cys1149Arg Missense 21/34 - 1
9-139402489-T-C c.3428A>G p.Glu1143Gly Missense 21/34 - 1
9-139402492-C-T c.3425G>A p.Cys1142Tyr Missense 21/34 - 1
9-139402500-G-T c.3417C>A p.Gly1139Gly Synonymous 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 - 2
9-139402520-A-C c.3397T>G p.Cys1133Gly Missense 21/34 - 1
9-139402523-G-A c.3394C>T p.Arg1132Cys Missense 21/34 - 1
9-139402578-G-C c.3339C>G p.Ala1113Ala Synonymous 21/34 - 1
9-139402584-G-A c.3333C>T p.Asp1111Asp Synonymous 21/34 - 1
9-139402585-T-C c.3332A>G p.Asp1111Gly Missense 21/34 - 1
9-139402663-T-C c.3325+21A>G - IntronicSNV - 20/33 5
9-139402687-G-A c.3322C>T p.Gln1108* Nonsense 20/34 - 1
9-139402693-G-A c.3316C>T p.Gln1106* 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
9-139402732-A-G c.3277T>C p.Tyr1093His Missense 20/34 - 1
9-139402738-C-T c.3271G>A p.Gly1091Ser Missense 20/34 - 2
9-139402740-G-C c.3269C>G p.Thr1090Ser Missense 20/34 - 1
9-139402741-T-A c.3268A>T 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
9-139402808-AGGG-A c.3199_3201del p.Pro1067del InFrameDeletion 20/34 - 1
9-139402816-A-T c.3193T>A p.Ser1065Thr Missense 20/34 - 1
9-139402821-C-A c.3188G>T p.Cys1063Phe 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
9-139402959-A-G c.3172-122T>C - IntronicSNV - 19/33 1
9-139403102-T-C c.3171+220A>G - 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 3
9-139403268-T-C c.3171+54A>G - IntronicSNV - 19/33 4
9-139403280-C-G c.3171+42G>C - IntronicSNV - 19/33 3
9-139403280-C-T c.3171+42G>A - IntronicSNV - 19/33 3
9-139403339-T-C c.3154A>G p.Thr1052Ala Missense 19/34 - 1
9-139403348-G-T c.3145C>A p.Gln1049Lys Missense 19/34 - 1
9-139403368-GA-AT c.3124_3125delinsAT p.Ser1042Ile Missense 19/34 - 1
9-139403395-C-G c.3098G>C p.Gly1033Ala Missense 19/34 - 1
9-139403422-T-A c.3071A>T p.Glu1024Val Missense 19/34 - 1
9-139403425-T-C c.3068A>G p.Asn1023Ser 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
9-139403446-C-T c.3047G>A p.Ser1016Asn Missense 19/34 - 1
9-139403449-C-T c.3044G>A p.Gly1015Asp Missense 19/34 - 1
9-139403450-C-A c.3043G>T p.Gly1015Cys Missense 19/34 - 1
9-139403452-G-A c.3041C>T p.Thr1014Met Missense 19/34 - 3
9-139403454-G-A c.3039C>T p.Phe1013Phe Synonymous 19/34 - 1
9-139403461-G-C c.3032C>G p.Pro1011Arg 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 - 4
9-139403492-C-T c.3001G>A p.Gly1001Ser Missense 19/34 - 1
9-139403504-T-C c.2989A>G p.Thr997Ala Missense 19/34 - 2
9-139403510-C-T c.2983G>A p.Gly995Ser Missense 19/34 - 2
9-139403554-T-C c.2970-31A>G - IntronicSNV - 18/33 3
9-139403770-G-A c.2970-247C>T - IntronicSNV - 18/33 6
9-139404201-G-C c.2953C>G p.Pro985Ala Missense 18/34 - 1
9-139404236-G-C c.2918C>G p.Ala973Gly 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
9-139404261-C-T c.2893G>A p.Asp965Asn Missense 18/34 - 1
9-139404279-T-TA c.2874_2875insT p.Asn959* Nonsense 18/34 - 1
9-139404284-C-T c.2870G>A p.Gly957Glu Missense 18/34 - 1
9-139404286-G-C c.2868C>G p.Asn956Lys Missense 18/34 - 1
9-139404286-G-T c.2868C>A p.Asn956Lys Missense 18/34 - 1
9-139404292-G-T c.2862C>A p.Cys954* Nonsense 18/34 - 1
9-139404300-C-G c.2854G>C p.Asp952His Missense 18/34 - 1
9-139404323-T-C c.2831A>G p.Glu944Gly Missense 18/34 - 1
9-139404329-C-T c.2825G>A p.Cys942Tyr Missense 18/34 - 1
9-139404338-C-G c.2816G>C p.Gly939Ala Missense 18/34 - 1
9-139404339-C-T c.2815G>A p.Gly939Ser Missense 18/34 - 1
9-139404341-C-T c.2813G>A p.Arg938Gln Missense 18/34 - 2
9-139404348-C-T c.2806G>A p.Gly936Ser Missense 18/34 - 1
9-139404351-G-C c.2803C>G p.Pro935Ala Missense 18/34 - 1
9-139404360-C-T c.2794G>A p.Asp932Asn Missense 18/34 - 1
9-139404398-C-T c.2756G>A p.Gly919Glu Missense 18/34 - 1
9-139404410-G-A c.2744C>T p.Pro915Leu Missense 18/34 - 1
9-139404895-C-G c.2740+210G>C - IntronicSNV - 17/33 3
9-139404895-C-T c.2740+210G>A - IntronicSNV - 17/33 3
9-139404917-C-G c.2740+188G>C - IntronicSNV - 17/33 1
9-139404917-C-T c.2740+188G>A - IntronicSNV - 17/33 1
9-139404977-C-T c.2740+128G>A - IntronicSNV - 17/33 1
9-139405093-G-A c.2740+12C>T - IntronicSNV - 17/33 4
9-139405093-G-C c.2740+12C>G - IntronicSNV - 17/33 4
9-139405093-G-T c.2740+12C>A - IntronicSNV - 17/33 4
9-139405111-G-A c.2734C>T p.Arg912Trp Missense 17/34 - 10
9-139405116-T-G c.2729A>C p.Asp910Ala Missense 17/34 - 1
9-139405117-C-T c.2728G>A p.Asp910Asn 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 - 3
9-139405164-T-C c.2681A>G p.His894Arg Missense 17/34 - 1
9-139405170-C-T c.2675G>A p.Arg892His Missense 17/34 - 1
9-139405181-G-A c.2664C>T p.His888His Synonymous 17/34 - 3
9-139405204-C-T c.2641G>A p.Gly881Ser Missense 17/34 - 1
9-139405209-C-T c.2636G>A p.Arg879Gln Missense 17/34 - 1
9-139405215-G-A c.2630C>T p.Pro877Leu Missense 17/34 - 1
9-139405223-A-G c.2622T>C p.Val874Val Synonymous 17/34 - 1
9-139405261-C-A c.2588-4G>T - IntronicSNV - 16/33 5
9-139405261-C-G c.2588-4G>C - IntronicSNV - 16/33 5
9-139405261-C-T c.2588-4G>A - IntronicSNV - 16/33 6
9-139405350-G-A c.2588-93C>T - IntronicSNV - 16/33 1
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 2
9-139405584-C-T c.2587+20G>A - IntronicSNV - 16/33 1
9-139405604-C-G c.2587G>C p.Gly863Arg Missense 16/34 - 1
9-139405604-C-T c.2587G>A p.Gly863Arg Missense 16/34 - 1
9-139405620-G-T c.2571C>A p.Cys857* Nonsense 16/34 - 1
9-139405640-C-T c.2551G>A p.Glu851Lys Missense 16/34 - 1
9-139405649-C-T c.2542G>A p.Glu848Lys Missense 16/34 - 3
9-139405665-CCCC-C c.2525_2527del p.Gly842del InFrameDeletion 16/34 - 1
9-139405680-G-GA c.2510_2511insT p.Cys838Leufs*14 Frameshift 16/34 - 1
9-139405684-C-T c.2507G>A p.Ser836Asn Missense 16/34 - 1
9-139405700-C-A c.2491G>T p.Ala831Ser Missense 16/34 - 1
9-139405717-G-A c.2474C>T p.Thr825Met Missense 16/34 - 1
9-139405723-C-G c.2468G>C p.Gly823Ala Missense 16/34 - 1
9-139406491-G-A c.2468-768C>T - IntronicSNV - 15/33 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
9-139407473-C-T c.2467G>A p.Gly823Ser Missense 15/34 - 1
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
9-139407512-C-T c.2428G>A p.Val810Ile Missense 15/34 - 1
9-139407529-C-T c.2411G>A p.Gly804Asp Missense 15/34 - 1
9-139407550-G-C c.2390C>G p.Ser797Cys Missense 15/34 - 1
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
9-139407858-C-T c.2339G>A p.Arg780Gln Missense 14/34 - 1
9-139407897-G-A c.2300C>T p.Thr767Ile Missense 14/34 - 1
9-139407901-C-A c.2296G>T p.Gly766Cys Missense 14/34 - 1
9-139407901-C-T c.2296G>A p.Gly766Ser Missense 14/34 - 1
9-139407919-T-C c.2278A>G p.Asn760Asp Missense 14/34 - 1
9-139407932-A-G c.2265T>C p.Asn755Asn Synonymous 14/34 - 14
9-139407954-G-T c.2243C>A p.Thr748Asn Missense 14/34 - 1
9-139407963-C-T c.2234G>A p.Trp745* Nonsense 14/34 - 1
9-139407967-C-T c.2230G>A p.Gly744Arg Missense 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 3
9-139408964-G-A c.2205C>T p.Asn735Asn Synonymous 13/34 - 1
9-139408964-G-C c.2205C>G p.Asn735Lys Missense 13/34 - 1
9-139408966-T-C c.2203A>G p.Asn735Asp Missense 13/34 - 1
9-139408971-C-G c.2198G>C p.Ser733Thr Missense 13/34 - 1
9-139408990-G-A c.2179C>T p.His727Tyr Missense 13/34 - 1
9-139409000-G-GG c.2172dup p.Cys725Leufs*18 Frameshift 13/34 - 1
9-139409016-T-C c.2153A>G p.Asn718Ser Missense 13/34 - 1
9-139409027-C-G c.2142G>C p.Leu714Leu Synonymous 13/34 - 1
9-139409043-T-C c.2126A>G p.His709Arg Missense 13/34 - 1
9-139409046-T-C c.2123A>G p.Tyr708Cys Missense 13/34 - 1
9-139409055-G-A c.2114C>T p.Pro705Leu Missense 13/34 - 1
9-139409055-GG-GT c.2113delinsA p.Pro705Thr Missense 13/34 - 1
9-139409067-G-A c.2102C>T p.Thr701Ile Missense 13/34 - 1
9-139409068-T-G c.2101A>C p.Thr701Pro Missense 13/34 - 1
9-139409084-G-C c.2085C>G p.Asp695Glu Missense 13/34 - 2
9-139409089-C-T c.2080G>A p.Glu694Lys 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
9-139409148-A-G c.2021T>C p.Met674Thr Missense 13/34 - 1
9-139409152-T-C c.2017A>G p.Ser673Gly Missense 13/34 - 1
9-139409154-C-T c.2015G>A p.Gly672Glu 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
9-139409712-C-T c.2014+30G>A - IntronicSNV - 12/33 1
9-139409750-C-T c.2006G>A p.Gly669Asp Missense 12/34 - 1
9-139409753-G-A c.2003C>T p.Pro668Leu Missense 12/34 - 1
9-139409754-G-A c.2002C>T p.Pro668Ser Missense 12/34 - 4
9-139409775-C-T c.1981G>A p.Gly661Ser Missense 12/34 - 5
9-139409800-C-T c.1956G>A p.Ser652Ser Synonymous 12/34 - 1
9-139409822-ACA-A c.1935_1936del p.Ala646Glnfs*21 Frameshift 12/34 - 2
9-139409833-G-A c.1923C>T p.Asn641Asn Synonymous 12/34 - 1
9-139409852-C-T c.1904G>A p.Gly635Glu Missense 12/34 - 1
9-139409945-C-CC c.1896dup p.Thr633Aspfs*12 Frameshift 11/34 - 1
9-139409968-C-T c.1870G>A p.Ala624Thr Missense 11/34 - 1
9-139409969-G-T c.1869C>A p.Asn623Lys Missense 11/34 - 2
9-139409976-C-A c.1862G>T p.Arg621Leu Missense 11/34 - 2
9-139409976-C-T c.1862G>A p.Arg621His Missense 11/34 - 4
9-139409978-G-GG c.1861dup p.Arg621Profs*24 Frameshift 11/34 - 1
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
9-139409995-C-G c.1843G>C p.Gly615Arg Missense 11/34 - 1
9-139410000-C-T c.1838G>A p.Arg613His Missense 11/34 - 1
9-139410001-G-A c.1837C>T p.Arg613Cys Missense 11/34 - 1
9-139410001-G-C c.1837C>G p.Arg613Gly Missense 11/34 - 1
9-139410006-G-A c.1832C>T p.Pro611Leu Missense 11/34 - 1
9-139410010-G-A c.1828C>T p.Gln610* Nonsense 11/34 - 2
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 - 5
9-139410057-C-A c.1781G>T p.Gly594Val Missense 11/34 - 1
9-139410060-G-A c.1778C>T p.Pro593Leu Missense 11/34 - 1
9-139410063-C-T c.1775G>A p.Arg592His Missense 11/34 - 1
9-139410066-C-G c.1772G>C p.Cys591Ser Missense 11/34 - 1
9-139410067-A-T c.1771T>A p.Cys591Ser Missense 11/34 - 1
9-139410068-G-A c.1770C>T p.Leu590Leu Synonymous 11/34 - 1
9-139410068-G-C c.1770C>G p.Leu590Leu Synonymous 11/34 - 1
9-139410068-G-T c.1770C>A p.Leu590Leu Synonymous 11/34 - 1
9-139410070-G-A c.1768C>T p.Leu590Phe Missense 11/34 - 2
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
9-139410081-G-A c.1757C>T p.Thr586Ile Missense 11/34 - 1
9-139410088-C-T c.1750G>A p.Val584Ile Missense 11/34 - 2
9-139410089-G-T c.1749C>A p.Gly583Gly Synonymous 11/34 - 1
9-139410102-G-A c.1736C>T p.Ser579Phe 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
9-139410132-T-C c.1706A>G p.Glu569Gly Missense 11/34 - 1
9-139410135-T-G c.1703A>C p.Asp568Ala Missense 11/34 - 1
9-139410143-CAC-ATC c.1694_1695delinsAT p.Val565Asp Missense 11/34 - 1
9-139410177-T-C c.1670-9A>G - IntronicSNV - 10/33 8
9-139410424-A-C c.1669+9T>G - IntronicSNV - 10/33 3
9-139410424-A-G c.1669+9T>C - IntronicSNV - 10/33 4
9-139410428-C-T c.1669+5G>A - IntronicSNV - 10/33 1
9-139410437-C-T c.1665G>A p.Thr555Thr Synonymous 10/34 - 2
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 - 3
9-139410456-G-A c.1646C>T p.Thr549Ile Missense 10/34 - 1
9-139410460-T-C c.1642A>G p.Asn548Asp Missense 10/34 - 1
9-139410462-G-A c.1640C>T p.Pro547Leu Missense 10/34 - 1
9-139410467-G-A c.1635C>T p.Asp545Asp Synonymous 10/34 - 3
9-139410476-C-G c.1626G>C p.Lys542Asn Missense 10/34 - 1
9-139410481-C-T c.1621G>A p.Ala541Thr Missense 10/34 - 1
9-139410484-C-T c.1618G>A p.Gly540Ser Missense 10/34 - 1
9-139410487-T-A c.1615A>T p.Asn539Tyr Missense 10/34 - 1
9-139410517-C-T c.1585G>A p.Val529Met Missense 10/34 - 1
9-139410520-C-T c.1582G>A p.Asp528Asn Missense 10/34 - 1
9-139410521-G-C c.1581C>G p.Tyr527* Nonsense 10/34 - 1
9-139410521-G-T c.1581C>A p.Tyr527* Nonsense 10/34 - 1
9-139410522-T-A c.1580A>T p.Tyr527Phe Missense 10/34 - 1
9-139410526-G-A c.1576C>T p.Gln526* Nonsense 10/34 - 1
9-139410532-G-C c.1570C>G p.Leu524Val Missense 10/34 - 1
9-139410589-A-C c.1556-43T>G - IntronicSNV - 9/33 5
9-139410589-A-G c.1556-43T>C - IntronicSNV - 9/33 6
9-139410679-T-C c.1556-133A>G - IntronicSNV - 9/33 3
9-139411619-G-A c.1555+105C>T - IntronicSNV - 9/33 2
9-139411622-G-A c.1555+102C>T - IntronicSNV - 9/33 2
9-139411622-G-C c.1555+102C>G - 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 4
9-139411714-T-G c.1555+10A>C - IntronicSNV - 9/33 3
9-139411765-C-A c.1514G>T p.Cys505Phe Missense 9/34 - 1
9-139411767-GCG-TGG c.1511_1512delinsCA p.Arg504Pro Missense 9/34 - 1
9-139411768-C-T c.1511G>A p.Arg504His Missense 9/34 - 2
9-139411784-A-G c.1495T>C p.Cys499Arg Missense 9/34 - 1
9-139411796-C-G c.1483G>C p.Ala495Pro Missense 9/34 - 1
9-139411811-T-A c.1468A>T p.Asn490Tyr Missense 9/34 - 1
9-139411816-T-G c.1463A>C p.Glu488Ala Missense 9/34 - 1
9-139411817-C-T c.1462G>A p.Glu488Lys Missense 9/34 - 1
9-139411818-G-A c.1461C>T p.Cys487Cys Synonymous 9/34 - 1
9-139411822-T-A c.1457A>T p.His486Leu Missense 9/34 - 1
9-139411823-G-A c.1456C>T p.His486Tyr Missense 9/34 - 1
9-139411828-C-A c.1451G>T p.Gly484Val Missense 9/34 - 2
9-139411832-C-A c.1447G>T p.Glu483* Nonsense 9/34 - 1
9-139411837-C-A c.1442G>T p.Gly481Val Missense 9/34 - 1
9-139411880-G-A c.1442-43C>T - IntronicSNV - 8/33 4
9-139412073-T-A c.1441+131A>T - IntronicSNV - 8/33 2
9-139412073-T-C c.1441+131A>G - IntronicSNV - 8/33 2
9-139412197-G-A c.1441+7C>T - IntronicSNV - 8/33 7
9-139412197-G-C c.1441+7C>G - IntronicSNV - 8/33 6
9-139412204-C-A c.1441G>T p.Gly481Cys Missense 8/34 - 1
9-139412204-C-T c.1441G>A p.Gly481Ser Missense 8/34 - 2
9-139412206-G-A c.1439C>T p.Pro480Leu Missense 8/34 - 1
9-139412211-G-T c.1434C>A p.Cys478* Nonsense 8/34 - 1
9-139412212-C-A c.1433G>T p.Cys478Phe Missense 8/34 - 4
9-139412212-C-T c.1433G>A p.Cys478Tyr Missense 8/34 - 1
9-139412212-C-G c.1433G>C p.Cys478Ser Missense 8/34 - 1
9-139412213-A-T c.1432T>A p.Cys478Ser Missense 8/34 - 1
9-139412214-G-C c.1431C>G p.Ile477Met Missense 8/34 - 1
9-139412215-A-C c.1430T>G p.Ile477Ser Missense 8/34 - 1
9-139412218-C-T c.1427G>A p.Cys476Tyr Missense 8/34 - 1
9-139412230-C-T c.1415G>A p.Gly472Glu Missense 8/34 - 1
9-139412239-T-C c.1406A>G p.Asp469Gly Missense 8/34 - 4
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
9-139412244-G-A c.1401C>T p.Cys467Cys Synonymous 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
9-139412248-G-C c.1397C>G p.Thr466Ser Missense 8/34 - 1
9-139412249-T-A c.1396A>T 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 - 8
9-139412256-G-A c.1389C>T p.Asn463Asn Synonymous 8/34 - 1
9-139412266-G-A c.1379C>T p.Pro460Leu Missense 8/34 - 1
9-139412272-G-A c.1373C>T p.Ser458Leu 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-GTTG-G c.1360_1362del p.Asn454del InFrameDeletion 8/34 - 1
9-139412284-T-G c.1361A>C p.Asn454Thr Missense 8/34 - 1
9-139412287-A-G c.1358T>C p.Val453Ala Missense 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 - 4
9-139412311-G-A c.1334C>T p.Thr445Met Missense 8/34 - 2
9-139412321-G-A c.1324C>T p.Gln442* Nonsense 8/34 - 1
9-139412326-C-A c.1319G>T p.Cys440Phe Missense 8/34 - 1
9-139412328-C-T c.1317G>A p.Gln439Gln Synonymous 8/34 - 1
9-139412330-G-A c.1315C>T p.Gln439* Nonsense 8/34 - 1
9-139412335-T-A c.1310A>T p.Glu437Val Missense 8/34 - 1
9-139412337-G-C c.1308C>G p.Phe436Leu Missense 8/34 - 1
9-139412337-G-T c.1308C>A p.Phe436Leu Missense 8/34 - 1
9-139412339-A-G c.1306T>C 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
9-139412346-CAG-TTT c.1297_1299delinsAAA p.Leu433Lys Missense 8/34 - 1
9-139412347-A-C c.1298T>G p.Leu433Arg Missense 8/34 - 1
9-139412350-G-A c.1295C>T p.Thr432Met Missense 8/34 - 1
9-139412351-T-A c.1294A>T p.Thr432Ser Missense 8/34 - 1
9-139412359-C-T c.1286G>A p.Cys429Tyr Missense 8/34 - 1
9-139412359-C-G c.1286G>C p.Cys429Ser Missense 8/34 - 2
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 - 2
9-139412360-A-T c.1285T>A p.Cys429Ser Missense 8/34 - 2
9-139412365-C-T c.1280G>A p.Gly427Asp Missense 8/34 - 1
9-139412374-T-C c.1271A>G p.Glu424Gly 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
9-139412591-CAGC-C c.1252_1254del p.Leu418del InFrameDeletion 7/34 - 1
9-139412592-G-A c.1252C>T p.Leu418Leu Synonymous 7/34 - 1
9-139412599-C-A c.1245G>T p.Glu415Asp Missense 7/34 - 2
9-139412599-C-G c.1245G>C p.Glu415Asp Missense 7/34 - 2
9-139412604-C-T c.1240G>A p.Asp414Asn Missense 7/34 - 1
9-139412618-C-A c.1226G>T p.Cys409Phe Missense 7/34 - 1
9-139412624-G-C c.1220C>G p.Pro407Arg Missense 7/34 - 2
9-139412639-G-A c.1205C>T p.Ser402Leu Missense 7/34 - 1
9-139412639-G-T c.1205C>A p.Ser402* Nonsense 7/34 - 2
9-139412641-G-A c.1203C>T p.Pro401Pro Synonymous 7/34 - 1
9-139412641-G-C c.1203C>G p.Pro401Pro Synonymous 7/34 - 1
9-139412641-G-T c.1203C>A p.Pro401Pro Synonymous 7/34 - 1
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
9-139412654-GATG-G c.1189_1191del p.Ile397del InFrameDeletion 7/34 - 1
9-139412673-G-A c.1171C>T p.Pro391Ser Missense 7/34 - 3
9-139412682-C-T c.1162G>A p.Asp388Asn Missense 7/34 - 1
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
9-139412697-C-T c.1147G>A p.Glu383Lys Missense 7/34 - 1
9-139412714-GA-G c.1130del p.Ile377Thrfs*254 Frameshift 7/34 - 2
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
9-139412720-G-T c.1124C>A p.Ala375Glu Missense 7/34 - 1
9-139412721-C-A c.1123G>T p.Ala375Ser Missense 7/34 - 1
9-139412730-G-C c.1114C>G p.Leu372Val Missense 7/34 - 1
9-139412732-GTGG-G c.1112_1114del p.His371del InFrameDeletion 7/34 - 1
9-139412738-A-AT c.1105_1106insA p.Leu369Hisfs*14 Frameshift 7/34 - 1
9-139412884-C-T c.1100-140G>A - IntronicSNV - 6/33 2
9-139413047-GC-AA c.1094_1095delinsTT p.Arg365Leu Missense 6/34 - 1
9-139413048-C-A c.1094G>T 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 - 10
9-139413059-A-G c.1083T>C p.Cys361Cys Synonymous 6/34 - 1
9-139413060-CA-AC c.1081_1082delinsGT p.Cys361Val Missense 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
9-139413066-C-T c.1076G>A p.Cys359Tyr Missense 6/34 - 2
9-139413069-GTAG-G c.1073_1075del p.Tyr358del InFrameDeletion 6/34 - 1
9-139413072-A-G c.1070T>C p.Phe357Ser Missense 6/34 - 3
9-139413072-GAAG-G c.1070_1072del p.Phe357del InFrameDeletion 6/34 - 2
9-139413075-G-A c.1067C>T p.Ser356Phe Missense 6/34 - 1
9-139413079-C-T c.1063G>A p.Ala355Thr Missense 6/34 - 2
9-139413080-C-A c.1062G>T p.Val354Val Synonymous 6/34 - 1
9-139413080-C-G c.1062G>C p.Val354Val Synonymous 6/34 - 1
9-139413080-C-T c.1062G>A p.Val354Val Synonymous 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
9-139413086-G-A c.1056C>T p.Asp352Asp Synonymous 6/34 - 1
9-139413086-G-GA c.1055_1056insT p.Arg353Profs*30 Frameshift 6/34 - 1
9-139413087-T-A c.1055A>T p.Asp352Val Missense 6/34 - 1
9-139413087-T-C c.1055A>G p.Asp352Gly Missense 6/34 - 3
9-139413093-C-T c.1049G>A p.Cys350Tyr Missense 6/34 - 1
9-139413097-T-G c.1045A>C p.Thr349Pro Missense 6/34 - 3
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
9-139413118-C-T c.1024G>A p.Ala342Thr Missense 6/34 - 1
9-139413119-G-GAGCTGGG c.1023_1024insCCAGCTC p.Ala342Profs*13 Frameshift 6/34 - 1
9-139413119-G-T c.1023C>A p.Ser341Arg Missense 6/34 - 1
9-139413122-G-C c.1020C>G p.Ala340Ala Synonymous 6/34 - 1
9-139413130-C-T c.1012G>A p.Asp338Asn Missense 6/34 - 1
9-139413143-G-C c.999C>G p.Ser333Arg Missense 6/34 - 1
9-139413147-C-T c.995G>A p.Cys332Tyr Missense 6/34 - 1
9-139413153-T-G c.989A>C p.Glu330Ala Missense 6/34 - 1
9-139413156-C-T c.986G>A p.Gly329Asp Missense 6/34 - 1
9-139413158-A-G c.984T>C p.Thr328Thr Synonymous 6/34 - 1
9-139413163-A-G c.979T>C p.Trp327Arg Missense 6/34 - 1
9-139413163-A-T c.979T>A p.Trp327Arg Missense 6/34 - 1
9-139413166-C-T c.976G>A p.Gly326Ser Missense 6/34 - 1
9-139413169-T-A c.973A>T p.Asn325Tyr Missense 6/34 - 1
9-139413177-CAC-C c.970_971del p.Val324Glnfs*6 Frameshift 6/34 - 1
9-139413181-CA-C c.961del p.Cys321Alafs*310 Frameshift 6/34 - 1
9-139413183-T-TCA c.958_959insTG p.Asn320Metfs*312 Frameshift 6/34 - 1
9-139413190-C-T c.952G>A p.Gly318Ser Missense 6/34 - 1
9-139413198-G-A c.944C>T p.Thr315Ile Missense 6/34 - 7
9-139413211-T-C c.931A>G p.Thr311Ala Missense 6/34 - 1
9-139413211-T-G c.931A>C p.Thr311Pro Missense 6/34 - 3
9-139413214-C-T c.928G>A p.Gly310Arg Missense 6/34 - 6
9-139413217-C-CC c.926dup p.Gly310Argfs*21 Frameshift 6/34 - 1
9-139413223-G-C c.919C>G p.Gln307Glu Missense 6/34 - 1
9-139413248-C-A c.894G>T p.Glu298Asp Missense 6/34 - 1
9-139413248-C-G c.894G>C p.Glu298Asp Missense 6/34 - 1
9-139413249-T-A c.893A>T p.Glu298Val Missense 6/34 - 1
9-139413250-C-A c.892G>T p.Glu298* Nonsense 6/34 - 1
9-139413253-C-CG c.888_889insC p.Asp297Argfs*34 Frameshift 6/34 - 1
9-139413260-C-A c.882G>T p.Glu294Asp Missense 6/34 - 1
9-139413262-C-G c.880G>C p.Glu294Gln Missense 6/34 - 1
9-139413267-C-T c.875G>A p.Cys292Tyr Missense 6/34 - 2
9-139413269-G-C c.873C>G p.Tyr291* Nonsense 6/34 - 1
9-139413272-C-A c.870G>T p.Gln290His Missense 6/34 - 1
9-139413272-C-G c.870G>C p.Gln290His Missense 6/34 - 1
9-139413274-G-A c.868C>T p.Gln290* Nonsense 6/34 - 2
9-139413274-G-GG c.868dup p.Gln290Profs*41 SpliceAcceptorInsertion 6/34 - 1
9-139413276-C-T c.866G>A p.Gly289Asp Missense 6/34 - 1
9-139413897-G-A c.863C>T p.Thr288Ile Missense 5/34 - 1
9-139413898-T-TAAG c.861_862insCTT p.Trp287_Thr288insLeu InFrameInsertion 5/34 - 1
9-139413899-C-T c.861G>A p.Trp287* Nonsense 5/34 - 1
9-139413900-C-T c.860G>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 - 3
9-139413908-C-A c.852G>T p.Pro284Pro Synonymous 5/34 - 5
9-139413908-C-G c.852G>C p.Pro284Pro Synonymous 5/34 - 5
9-139413908-C-T c.852G>A p.Pro284Pro Synonymous 5/34 - 5
9-139413909-G-A c.851C>T p.Pro284Leu Missense 5/34 - 2
9-139413912-C-G c.848G>C p.Cys283Ser Missense 5/34 - 1
9-139413914-GCG-TGG c.845_846delinsCA p.Arg282Pro Missense 5/34 - 1
9-139413915-C-T c.845G>A p.Arg282His Missense 5/34 - 1
9-139413916-G-A c.844C>T p.Arg282Cys Missense 5/34 - 4
9-139413916-G-C c.844C>G p.Arg282Gly Missense 5/34 - 1
9-139413921-T-C c.839A>G p.Asn280Ser Missense 5/34 - 2
9-139413921-T-G c.839A>C p.Asn280Thr Missense 5/34 - 1
9-139413936-C-A c.824G>T p.Gly275Val Missense 5/34 - 1
9-139413936-C-T c.824G>A p.Gly275Asp Missense 5/34 - 1
9-139413945-C-G c.815G>C p.Cys272Ser Missense 5/34 - 2
9-139413949-C-A c.811G>T p.Ala271Ser Missense 5/34 - 1
9-139413952-C-A c.808G>T p.Gly270Cys Missense 5/34 - 1
9-139413958-TT-T c.803del p.Asn268Thrfs*9 Frameshift 5/34 - 1
9-139413963-C-A c.797G>T p.Cys266Phe Missense 5/34 - 2
9-139413966-T-A c.794A>T p.Asn265Ile Missense 5/34 - 1
9-139413973-C-T c.787G>A p.Gly263Arg Missense 5/34 - 1
9-139413985-C-G c.775G>C p.Asp259His 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 - 3
9-139414008-C-T c.752G>A p.Gly251Asp Missense 5/34 - 1
9-139414009-C-A c.751G>T p.Gly251Cys Missense 5/34 - 1
9-139414010-G-A c.750C>T p.Thr250Thr Synonymous 5/34 - 1
9-139414010-G-C c.750C>G p.Thr250Thr Synonymous 5/34 - 1
9-139414010-G-T c.750C>A p.Thr250Thr Synonymous 5/34 - 1
9-139414012-T-G c.748A>C p.Thr250Pro Missense 5/34 - 1
9-139414014-A-C c.746T>G p.Phe249Cys Missense 5/34 - 1
9-139414013-G-C c.747C>G p.Phe249Leu Missense 5/34 - 1
9-139414013-G-T c.747C>A p.Phe249Leu Missense 5/34 - 1
9-139414015-A-G c.745T>C p.Phe249Leu Missense 5/34 - 1
9-139414017-C-G c.743G>C p.Gly248Ala Missense 5/34 - 1
9-139414017-C-T c.743G>A p.Gly248Asp Missense 5/34 - 1
9-139414018-C-A c.743-1G>T - IntronicSNV - 4/33 2
9-139414839-G-A c.743-822C>T - IntronicSNV - 4/33 4
9-139414839-G-C c.743-822C>G - IntronicSNV - 4/33 4
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
9-139417308-G-A c.736C>T p.Leu246Leu Synonymous 4/34 - 1
9-139417314-C-A c.730G>T p.Ala244Ser Missense 4/34 - 1
9-139417320-C-A c.724G>T p.Glu242* Nonsense 4/34 - 1
9-139417320-C-T c.724G>A p.Glu242Lys Missense 4/34 - 2
9-139417324-GG-TG c.720delinsA p.Thr240Thr Missense 4/34 - 1
9-139417325-G-A c.719C>T p.Thr240Ile Missense 4/34 - 1
9-139417329-C-T c.715G>A p.Val239Ile Missense 4/34 - 1
9-139417337-G-A c.707C>T p.Thr236Met Missense 4/34 - 1
9-139417342-GCG-TGA c.700_702delinsTCA p.Arg234Ser Nonsense 4/34 - 1
9-139417343-C-T c.701G>A p.Arg234His Missense 4/34 - 1
9-139417349-GG-G c.696del p.Cys233Alafs*44 Frameshift 4/34 - 1
9-139417355-C-A c.689G>T p.Gly230Val Missense 4/34 - 1
9-139417355-C-T c.689G>A p.Gly230Glu Missense 4/34 - 1
9-139417364-C-T c.680G>A p.Cys227Tyr 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
9-139417402-G-GCTG c.642_643insAGC p.Asn214_Cys215insSer InFrameInsertion 4/34 - 1
9-139417403-T-C c.641A>G p.Asn214Ser Missense 4/34 - 1
9-139417407-G-A c.637C>T p.Pro213Ser Missense 4/34 - 1
9-139417412-G-A c.632C>T p.Thr211Ile Missense 4/34 - 1
9-139417413-T-C c.631A>G p.Thr211Ala Missense 4/34 - 1
9-139417422-C-T c.622G>A p.Ala208Thr Missense 4/34 - 1
9-139417427-C-T c.617G>A p.Cys206Tyr Missense 4/34 - 1
9-139417431-C-G c.613G>C p.Val205Leu Missense 4/34 - 1
9-139417431-C-T c.613G>A p.Val205Ile Missense 4/34 - 1
9-139417436-C-A c.608G>T p.Arg203Leu Missense 4/34 - 1
9-139417436-C-T c.608G>A p.Arg203His Missense 4/34 - 1
9-139417436-GCGG-G c.607_609del p.Arg203del InFrameDeletion 4/34 - 1
9-139417439-GTAGG-G c.604_607del p.Tyr202Alafs*74 Frameshift 4/34 - 1
9-139417442-G-A c.602C>T p.Ser201Phe Missense 4/34 - 2
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
9-139417458-G-A c.586C>T p.His196Tyr Missense 4/34 - 1
9-139417463-G-A c.581C>T p.Thr194Ile Missense 4/34 - 1
9-139417464-T-G c.580A>C p.Thr194Pro Missense 4/34 - 3
9-139417466-C-G c.578G>C p.Gly193Ala Missense 4/34 - 2
9-139417466-C-T c.578G>A p.Gly193Asp Missense 4/34 - 2
9-139417467-C-A c.577G>T p.Gly193Cys Missense 4/34 - 1
9-139417476-G-A c.568C>T p.Arg190Cys Missense 4/34 - 1
9-139417477-G-GG c.568dup p.Arg190Profs*66 Frameshift 4/34 - 1
9-139417485-C-G c.559G>C p.Gly187Arg Missense 4/34 - 1
9-139417485-C-T c.559G>A p.Gly187Arg Missense 4/34 - 1
9-139417488-G-A c.556C>T p.Pro186Ser Missense 4/34 - 1
9-139417488-G-C c.556C>G p.Pro186Ala Missense 4/34 - 1
9-139417489-C-A c.555G>T p.Lys185Asn Missense 4/34 - 1
9-139417490-T-TACT c.555_556insTAG p.Lys185_Pro186ins* Nonsense 4/34 - 1
9-139417491-T-C c.553A>G p.Lys185Glu Missense 4/34 - 1
9-139417503-C-A c.541G>T p.Glu181* Nonsense 4/34 - 1
9-139417511-T-C c.533A>G p.Asp178Gly Missense 4/34 - 1
9-139417517-C-T c.527G>A p.Arg176Gln Missense 4/34 - 1
9-139417520-C-T c.524G>A p.Cys175Tyr Missense 4/34 - 2
9-139417529-C-A c.515G>T p.Gly172Val Missense 4/34 - 1
9-139417532-T-G c.512A>C p.His171Pro Missense 4/34 - 1
9-139417542-G-A c.502C>T p.Pro168Ser Missense 4/34 - 1
9-139417549-G-C c.495C>G p.His165Gln Missense 4/34 - 1
9-139417567-CCTCGAAGGGCAG-C c.466_477del p.Leu156_Glu159del InFrameDeletion 4/34 - 1
9-139417575-G-GA c.468_469insT p.Pro157Serfs*99 Frameshift 4/34 - 1
9-139417580-C-A c.464G>T p.Cys155Phe 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
9-139417606-G-A c.438C>T p.Ser146Ser Synonymous 4/34 - 1
9-139417606-G-C c.438C>G p.Ser146Ser Synonymous 4/34 - 1
9-139417606-G-T c.438C>A p.Ser146Ser Synonymous 4/34 - 1
9-139417611-C-T c.433G>A p.Ala145Thr Missense 4/34 - 1
9-139417612-G-A c.432C>T p.Cys144Cys Synonymous 4/34 - 1
9-139417620-C-G c.424G>C p.Asp142His Missense 4/34 - 1
9-139417623-C-A c.421G>T p.Ala141Ser Missense 4/34 - 1
9-139417629-G-A c.415C>T p.Gln139* Nonsense 4/34 - 1
9-139417640-C-T c.404G>A p.Gly135Glu Missense 4/34 - 1
9-139417689-G-A c.404-49C>T - IntronicSNV - 3/33 2
9-139417689-G-T c.404-49C>A - IntronicSNV - 3/33 2
9-139418167-A-C c.403+2T>G - IntronicSNV - 3/33 1
9-139418181-GG-G c.393del p.Gly132Alafs*145 Frameshift 3/34 - 1
9-139418183-G-T c.389C>A p.Pro130Gln Missense 3/34 - 1
9-139418188-GCG-TGA c.382_384delinsTCA p.Arg128Ser Nonsense 3/34 - 1
9-139418189-C-T c.383G>A p.Arg128His Missense 3/34 - 2
9-139418190-G-C c.382C>G p.Arg128Gly Missense 3/34 - 1
9-139418192-C-A c.380G>T p.Cys127Phe Missense 3/34 - 1
9-139418202-C-A c.370G>T p.Glu124* Nonsense 3/34 - 1
9-139418202-C-T c.370G>A p.Glu124Lys Missense 3/34 - 1
9-139418204-G-A c.368C>T p.Thr123Met Missense 3/34 - 3
9-139418209-C-A c.363G>T p.Thr121Thr Synonymous 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
9-139418214-G-T c.358C>A p.Leu120Ile Missense 3/34 - 1
9-139418217-G-A c.355C>T p.Leu119Leu Synonymous 3/34 - 1
9-139418221-G-C c.351C>G p.Cys117Trp Missense 3/34 - 1
9-139418224-GG-TG c.348delinsA p.Thr116Thr Missense 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
9-139418248-G-A c.324C>T p.Thr108Thr Synonymous 3/34 - 1
9-139418259-C-T c.313G>A p.Ala105Thr Missense 3/34 - 1
9-139418260-A-G c.312T>C p.Asn104Asn Synonymous 3/34 - 15
9-139418261-T-C c.311A>G p.Asn104Ser Missense 3/34 - 2
9-139418261-T-G c.311A>C p.Asn104Thr Missense 3/34 - 1
9-139418265-C-A c.307G>T p.Asp103Tyr Missense 3/34 - 1
9-139418281-GA-AA c.291delinsT p.Leu97Leu Missense 3/34 - 1
9-139418286-G-C c.286C>G p.Pro96Ala Missense 3/34 - 1
9-139418287-C-G c.285G>C p.Gly95Gly Synonymous 3/34 - 1
9-139418287-C-T c.285G>A p.Gly95Gly Synonymous 3/34 - 1
9-139418288-C-T c.284G>A p.Gly95Glu Missense 3/34 - 1
9-139418290-A-C c.282T>G p.Ser94Ser Synonymous 3/34 - 1
9-139418290-A-T c.282T>A p.Ser94Ser Synonymous 3/34 - 1
9-139418296-G-A c.276C>T p.Gly92Gly Synonymous 3/34 - 1
9-139418296-G-C c.276C>G p.Gly92Gly Synonymous 3/34 - 1
9-139418297-C-T c.275G>A p.Gly92Asp Missense 3/34 - 1
9-139418301-G-A c.271C>T p.Leu91Leu Synonymous 3/34 - 1
9-139418312-CA-GC c.259_260delinsGC p.Cys87Ala Missense 3/34 - 1
9-139418314-G-A c.258C>T p.Ala86Ala Synonymous 3/34 - 1
9-139418314-G-C c.258C>G p.Ala86Ala Synonymous 3/34 - 1
9-139418314-GG-AG c.258delinsT p.Ala86Ala Missense 3/34 - 1
9-139418314-G-T c.258C>A p.Ala86Ala Synonymous 3/34 - 1
9-139418330-C-T c.242G>A p.Gly81Asp Missense 3/34 - 2
9-139418339-TC-TG c.232delinsC p.Asp78His Missense 3/34 - 1
9-139418351-CA-AC c.220_221delinsGT p.Cys74Val Missense 3/34 - 1
9-139418357-C-A c.215G>T p.Gly72Val Missense 3/34 - 1
9-139418358-C-G c.214G>C p.Gly72Arg Missense 3/34 - 1
9-139418358-C-T c.214G>A p.Gly72Arg Missense 3/34 - 1
9-139418360-GG-G c.213del p.Thr73Hisfs*27 Frameshift 3/34 - 1
9-139418363-T-TGCACAC c.208_209insGTGTGC p.Asn70delinsSerValHis MultiAAMissense 3/34 - 1
9-139418371-G-A c.201C>T p.Pro67Pro Synonymous 3/34 - 1
9-139418371-G-C c.201C>G p.Pro67Pro Synonymous 3/34 - 1
9-139418371-G-T c.201C>A p.Pro67Pro Synonymous 3/34 - 1
9-139418372-G-A c.200C>T p.Pro67Leu Missense 3/34 - 1
9-139418375-GG-G c.201del p.Cys68Alafs*32 Frameshift 3/34 - 1
9-139418377-G-A c.195C>T p.Ser65Ser Synonymous 3/34 - 1
9-139418379-T-C c.193A>G p.Ser65Gly Missense 3/34 - 1
9-139418381-A-G c.191T>C p.Leu64Pro Missense 3/34 - 1
9-139418383-G-T c.189C>A p.Cys63* Nonsense 3/34 - 1
9-139418387-G-A c.185C>T p.Pro62Leu Missense 3/34 - 1
9-139418390-T-A c.182A>T p.Asn61Ile Missense 3/34 - 1
9-139418394-G-C c.178C>G p.Pro60Ala Missense 3/34 - 3
9-139418395-G-A c.177C>T p.Asp59Asp Synonymous 3/34 - 1
9-139418397-C-G c.175G>C p.Asp59His Missense 3/34 - 2
9-139418398-C-T c.174G>A p.Gln58Gln Synonymous 3/34 - 1
9-139418399-T-A c.173A>T p.Gln58Leu Missense 3/34 - 2
9-139418399-T-G c.173A>C p.Gln58Pro Missense 3/34 - 1
9-139418400-G-A c.172C>T p.Gln58* Nonsense 3/34 - 2
9-139418402-CA-CT c.169delinsA p.Cys57Ser Missense 3/34 - 2
9-139418404-TC-AT c.167_168delinsAT p.Arg56His Missense 3/34 - 2
9-139418405-C-T c.167G>A p.Arg56Gln Missense 3/34 - 1
9-139418406-G-A c.166C>T p.Arg56* Nonsense 3/34 - 2
9-139418420-G-C c.152C>G p.Ala51Gly Missense 3/34 - 1
9-139418424-C-T c.148G>A p.Gly50Arg Missense 3/34 - 1
9-139418426-C-T c.146G>A p.Gly49Asp Missense 3/34 - 1
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
9-139419151-G-A c.141-720C>T - IntronicSNV - 2/33 1
9-139420776-C-T c.141-2345G>A - IntronicSNV - 2/33 1
9-139425573-A-G c.141-7142T>C - IntronicSNV - 2/33 1
9-139425634-A-G c.141-7203T>C - IntronicSNV - 2/33 3
9-139425634-A-T c.141-7203T>A - IntronicSNV - 2/33 3
9-139427066-C-T c.141-8635G>A - IntronicSNV - 2/33 5
9-139428909-C-T c.140+9567G>A - IntronicSNV - 2/33 1
9-139431057-C-T c.140+7419G>A - IntronicSNV - 2/33 1
9-139431719-G-A c.140+6757C>T - IntronicSNV - 2/33 1
9-139431874-G-A c.140+6602C>T - IntronicSNV - 2/33 1
9-139435397-G-C c.140+3079C>G - IntronicSNV - 2/33 1
9-139435397-G-T c.140+3079C>A - IntronicSNV - 2/33 1
9-139437410-G-A c.140+1066C>T - IntronicSNV - 2/33 1
9-139438482-G-A c.134C>T p.Ala45Val Missense 2/34 - 1
9-139438483-C-A c.133G>T p.Ala45Ser Missense 2/34 - 1
9-139438485-CTCCGTG-C c.126_131del p.Thr43_Glu44del InFrameDeletion 2/34 - 1
9-139438490-G-C c.126C>G p.Gly42Gly Synonymous 2/34 - 1
9-139438492-C-G c.124G>C p.Gly42Arg Missense 2/34 - 1
9-139438506-C-A c.110G>T p.Cys37Phe Missense 2/34 - 1
9-139438507-CACTTCCCGCCATTCAGGCAGGTCTCAC-C c.87_113del p.Thr30_Glu38del InFrameDeletion 2/34 - 1
9-139438509-T-A c.107A>T p.Lys36Met Missense 2/34 - 1
9-139438511-C-G c.105G>C p.Gly35Gly Synonymous 2/34 - 1
9-139438515-CC-AC c.101delinsT p.Gly34Val Missense 2/34 - 2
9-139438546-A-AA c.70dup p.Cys24Leufs*6 Frameshift 2/34 - 1
9-139438548-C-T c.68G>A p.Arg23Gln Missense 2/34 - 1
9-139438552-G-A c.64C>T p.Pro22Ser Missense 2/34 - 2
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
9-139438553-G-T c.63C>A p.Gly21Gly Synonymous 2/34 - 1
9-139440180-C-G c.59G>C p.Arg20Pro Missense 1/34 - 1
9-139440179-T-A c.60A>T p.Arg20Arg Synonymous 1/34 - 1
9-139440179-T-C c.60A>G p.Arg20Arg Synonymous 1/34 - 1
9-139440179-T-G c.60A>C p.Arg20Arg Synonymous 1/34 - 1
9-139440181-G-A c.58C>T p.Arg20* Nonsense 1/34 - 1
9-139440183-G-A c.56C>T p.Ala19Val Missense 1/34 - 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
9-139440201-AG-GC c.37_38delinsGC p.Leu13Ala Missense 1/34 - 2
9-139440203-C-A c.36G>T p.Ala12Ala Synonymous 1/34 - 1
9-139440209-G-T c.30C>A p.Cys10* Nonsense 1/34 - 1
9-139440212-G-A c.27C>T p.Leu9Leu Synonymous 1/34 - 1
9-139440212-G-C c.27C>G p.Leu9Leu Synonymous 1/34 - 1
9-139440212-G-T c.27C>A p.Leu9Leu Synonymous 1/34 - 1
9-139440215-C-A c.24G>T p.Leu8Leu Synonymous 1/34 - 1
9-139440215-C-G c.24G>C p.Leu8Leu Synonymous 1/34 - 1
9-139440215-C-T c.24G>A p.Leu8Leu Synonymous 1/34 - 1
9-139440219-G-A c.20C>T p.Pro7Leu Missense 1/34 - 1
9-139440220-G-T c.19C>A p.Pro7Thr Missense 1/34 - 1
9-139440221-C-A c.18G>T p.Ala6Ala Synonymous 1/34 - 1
9-139440221-C-G c.18G>C p.Ala6Ala Synonymous 1/34 - 1
9-139440221-C-T c.18G>A p.Ala6Ala Synonymous 1/34 - 1
9-139440229-G-T c.10C>A p.Leu4Ile Missense 1/34 - 1
9-139440232-G-A c.7C>T p.Pro3Ser Missense 1/34 - 1
9-139440233-C-A c.6G>T p.Pro2Pro Synonymous 1/34 - 1
9-139440233-C-G c.6G>C p.Pro2Pro Synonymous 1/34 - 1
9-139440233-C-T c.6G>A p.Pro2Pro Synonymous 1/34 - 1
9-139440390-A-G c.-152T>C - IntergenicSNV 1/34 - 1
9-139440390-A-T c.-152T>A - IntergenicSNV 1/34 - 1