NOTCH1 notch receptor 1

Canonical transcript: NM_017617

715 unique variant annotations were identified in 340 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
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