Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
19-45409113-C-T | c.-24+15C>T | - | intron_variant | - | 1/3 | 2 |
19-45409167-C-G | c.-24+69C>G | - | intron_variant | - | 1/3 | 40 |
19-45409167-C-T | c.-24+69C>T | - | intron_variant | - | 1/3 | 40 |
19-45409283-C-A | c.-24+185C>A | - | intron_variant | - | 1/3 | 3 |
19-45409283-C-T | c.-24+185C>T | - | intron_variant | - | 1/3 | 3 |
19-45409526-G-A | c.-23-333G>A | - | IntronicSNV | - | 1/3 | 1 |
19-45409543-A-G | c.-23-316A>G | - | IntronicSNV | - | 1/3 | 1 |
19-45409565-G-C | c.-23-294G>C | - | IntronicSNV | - | 1/3 | 1 |
19-45409579-C-G | c.-23-280C>G | - | IntronicSNV | - | 1/3 | 5 |
19-45409579-C-T | c.-23-280C>T | - | IntronicSNV | - | 1/3 | 5 |
19-45409595-G-C | c.-23-264G>C | - | IntronicSNV | - | 1/3 | 1 |
19-45409595-G-T | c.-23-264G>T | - | IntronicSNV | - | 1/3 | 1 |
19-45409833-T-C | c.-23-26T>C | - | IntronicSNV | - | 1/3 | 1 |
19-45409850-C-T | c.-32C>T | - | IntronicSNV | 1/4 | - | 2 |
19-45409882-A-C | c.1A>C | p.Met1? | Missense | 2/4 | - | 1 |
19-45409912-A-G | c.31A>G | p.Thr11Ala | Missense | 2/4 | - | 1 |
19-45409918-CT-GC | c.37_38delinsGC | p.Leu13Ala | Missense | 2/4 | - | 1 |
19-45409921-G-A | c.40G>A | p.Ala14Thr | Missense | 2/4 | - | 1 |
19-45409922-C-A | c.41C>A | p.Ala14Glu | Missense | 2/4 | - | 1 |
19-45410002-G-A | c.43+78G>A | - | IntronicSNV | - | 2/3 | 75 |
19-45410076-G-A | c.43+152G>A | - | IntronicSNV | - | 2/3 | 1 |
19-45410273-G-A | c.43+349G>A | - | IntronicSNV | - | 2/3 | 2 |
19-45410444-G-A | c.43+520G>A | - | IntronicSNV | - | 2/3 | 25 |
19-45410548-A-G | c.44-469A>G | - | IntronicSNV | - | 2/3 | 2 |
19-45410911-T-G | c.44-106T>G | - | IntronicSNV | - | 2/3 | 5 |
19-45411020-G-T | c.47G>T | p.Cys16Phe | Missense | 3/4 | - | 1 |
19-45411021-C-A | c.48C>A | p.Cys16* | Nonsense | 3/4 | - | 1 |
19-45411025-G-A | c.52G>A | p.Ala18Thr | Missense | 3/4 | - | 3 |
19-45411026-C-A | c.53C>A | p.Ala18Asp | Missense | 3/4 | - | 1 |
19-45411034-G-A | c.61G>A | p.Glu21Lys | Missense | 3/4 | - | 2 |
19-45411035-A-G | c.62A>G | p.Glu21Gly | Missense | 3/4 | - | 1 |
19-45411042-G-A | c.69G>A | p.Ala23Ala | Synonymous | 3/4 | - | 1 |
19-45411048-G-C | c.75G>C | p.Glu25Asp | Missense | 3/4 | - | 1 |
19-45411048-G-T | c.75G>T | p.Glu25Asp | Missense | 3/4 | - | 1 |
19-45411050-CA-AC | c.77_78delinsAC | p.Thr26Asn | Missense | 3/4 | - | 1 |
19-45411060-G-C | c.87G>C | p.Glu29Asp | Missense | 3/4 | - | 1 |
19-45411060-G-T | c.87G>T | p.Glu29Asp | Missense | 3/4 | - | 1 |
19-45411061-C-T | c.88C>T | p.Pro30Ser | Missense | 3/4 | - | 1 |
19-45411064-G-A | c.91G>A | p.Glu31Lys | Missense | 3/4 | - | 1 |
19-45411074-A-G | c.101A>G | p.Gln34Arg | Missense | 3/4 | - | 1 |
19-45411082-G-A | c.109G>A | p.Glu37Lys | Missense | 3/4 | - | 1 |
19-45411082-GAG-TGT | c.109_111delinsTGT | p.Glu37Cys | Missense | 3/4 | - | 1 |
19-45411086-G-C | c.113G>C | p.Trp38Ser | Missense | 3/4 | - | 1 |
19-45411086-G-T | c.113G>T | p.Trp38Leu | Missense | 3/4 | - | 1 |
19-45411100-C-T | c.127C>T | p.Arg43Cys | Missense | 3/4 | - | 4 |
19-45411107-A-T | c.134A>T | p.Glu45Val | Missense | 3/4 | - | 1 |
19-45411110-T-C | c.137T>C | p.Leu46Pro | Missense | 3/4 | - | 11 |
19-45411110-T-G | c.137T>G | p.Leu46Arg | Missense | 3/4 | - | 1 |
19-45411115-C-A | c.142C>A | p.Leu48Met | Missense | 3/4 | - | 1 |
19-45411118-G-C | c.145G>C | p.Gly49Arg | Missense | 3/4 | - | 1 |
19-45411120-T-A | c.147T>A | p.Gly49Gly | Synonymous | 3/4 | - | 1 |
19-45411120-T-C | c.147T>C | p.Gly49Gly | Synonymous | 3/4 | - | 1 |
19-45411120-T-G | c.147T>G | p.Gly49Gly | Synonymous | 3/4 | - | 1 |
19-45411121-CG-AC | c.148_149delinsAC | p.Arg50Thr | Missense | 3/4 | - | 1 |
19-45411121-C-T | c.148C>T | p.Arg50Cys | Missense | 3/4 | - | 1 |
19-45411122-G-A | c.149G>A | p.Arg50His | Missense | 3/4 | - | 1 |
19-45411136-C-A | c.163C>A | p.Leu55Met | Missense | 3/4 | - | 5 |
19-45411145-G-A | c.172G>A | p.Val58Met | Missense | 3/4 | - | 1 |
19-45411148-C-T | c.175C>T | p.Gln59* | Nonsense | 3/4 | - | 1 |
19-45411150-G-C | c.177G>C | p.Gln59His | Missense | 3/4 | - | 1 |
19-45411150-G-T | c.177G>T | p.Gln59His | Missense | 3/4 | - | 1 |
19-45411151-A-G | c.178A>G | p.Thr60Ala | Missense | 3/4 | - | 1 |
19-45411157-T-G | c.184T>G | p.Ser62Ala | Missense | 3/4 | - | 1 |
19-45411161-A-C | c.188A>C | p.Glu63Ala | Missense | 3/4 | - | 1 |
19-45411179-T-A | c.206T>A | p.Leu69Gln | Missense | 3/4 | - | 1 |
19-45411193-G-A | c.220G>A | p.Val74Ile | Missense | 3/4 | - | 1 |
19-45411204-A-C | c.231A>C | p.Glu77Asp | Missense | 3/4 | - | 1 |
19-45411204-A-T | c.231A>T | p.Glu77Asp | Missense | 3/4 | - | 1 |
19-45411205-C-G | c.232C>G | p.Leu78Val | Missense | 3/4 | - | 1 |
19-45411208-AG-TA | c.235_236delinsTA | p.Arg79* | Nonsense | 3/4 | - | 1 |
19-45411259-T-C | c.236+50T>C | - | IntronicSNV | - | 3/3 | 1 |
19-45411677-C-G | c.237-113C>G | - | IntronicSNV | - | 3/3 | 1 |
19-45411677-C-T | c.237-113C>T | - | IntronicSNV | - | 3/3 | 1 |
19-45411791-GCG-TGT | c.238_240delinsTGT | p.Ala80Cys | Missense | 4/4 | - | 1 |
19-45411792-C-G | c.239C>G | p.Ala80Gly | Missense | 4/4 | - | 1 |
19-45411815-G-A | c.262G>A | p.Glu88Lys | Missense | 4/4 | - | 1 |
19-45411844-G-A | c.291G>A | p.Glu97Glu | Synonymous | 4/4 | - | 1 |
19-45411857-C-A | c.304C>A | p.Pro102Thr | Missense | 4/4 | - | 1 |
19-45411857-C-T | c.304C>T | p.Pro102Ser | Missense | 4/4 | - | 1 |
19-45411858-C-A | c.305C>A | p.Pro102Gln | Missense | 4/4 | - | 1 |
19-45411858-C-G | c.305C>G | p.Pro102Arg | Missense | 4/4 | - | 4 |
19-45411860-GTG-ATC | c.307_309delinsATC | p.Val103Ile | Missense | 4/4 | - | 1 |
19-45411860-GTG-TGT | c.307_309delinsTGT | p.Val103Cys | Missense | 4/4 | - | 2 |
19-45411887-TCC-GAG | c.334_336delinsGAG | p.Ser112Glu | Missense | 4/4 | - | 1 |
19-45411887-T-G | c.334T>G | p.Ser112Ala | Missense | 4/4 | - | 3 |
19-45411902-G-A | c.349G>A | p.Ala117Thr | Missense | 4/4 | - | 2 |
19-45411914-CGG-GAC | c.361_363delinsGAC | p.Arg121Asp | Missense | 4/4 | - | 1 |
19-45411938-G-A | c.385G>A | p.Val129Met | Missense | 4/4 | - | 1 |
19-45411940-G-A | c.387G>A | p.Val129Val | Synonymous | 4/4 | - | 1 |
19-45411940-G-C | c.387G>C | p.Val129Val | Synonymous | 4/4 | - | 1 |
19-45411940-G-T | c.387G>T | p.Val129Val | Synonymous | 4/4 | - | 1 |
19-45411941-T-C | c.388T>C | p.Cys130Arg | Missense | 4/4 | - | 1435 |
19-45411947-C-A | c.394C>A | p.Arg132Ser | Missense | 4/4 | - | 2 |
19-45411963-G-A | c.410G>A | p.Arg137His | Missense | 4/4 | - | 1 |
19-45411969-A-T | c.416A>T | p.Glu139Val | Missense | 4/4 | - | 1 |
19-45411981-T-C | c.428T>C | p.Met143Thr | Missense | 4/4 | - | 1 |
19-45411987-G-A | c.434G>A | p.Gly145Asp | Missense | 4/4 | - | 3 |
19-45411987-G-C | c.434G>C | p.Gly145Ala | Missense | 4/4 | - | 1 |
19-45411991-G-A | c.438G>A | p.Gln146Gln | Synonymous | 4/4 | - | 1 |
19-45412002-A-G | c.449A>G | p.Glu150Gly | Missense | 4/4 | - | 1 |
19-45412008-G-A | c.455G>A | p.Arg152Gln | Missense | 4/4 | - | 1 |
19-45412013-C-A | c.460C>A | p.Arg154Ser | Missense | 4/4 | - | 3 |
19-45412029-T-G | c.476T>G | p.Leu159Arg | Missense | 4/4 | - | 1 |
19-45412033-GCAAGCTGCG-G | c.480_488del | p.Leu162_Lys164del | InFrameDeletion | 4/4 | - | 1 |
19-45412037-C-G | c.484C>G | p.Leu162Val | Missense | 4/4 | - | 2 |
19-45412040-C-T | c.487C>T | p.Arg163Cys | Missense | 4/4 | - | 20 |
19-45412041-G-A | c.488G>A | p.Arg163His | Missense | 4/4 | - | 1 |
19-45412041-G-C | c.488G>C | p.Arg163Pro | Missense | 4/4 | - | 2 |
19-45412043-A-C | c.490A>C | p.Lys164Gln | Missense | 4/4 | - | 3 |
19-45412043-A-G | c.490A>G | p.Lys164Glu | Missense | 4/4 | - | 1 |
19-45412047-G-C | c.494G>C | p.Arg165Pro | Missense | 4/4 | - | 2 |
19-45412053-CTCC-C | c.500_502del | p.Leu167del | InFrameDeletion | 4/4 | - | 12 |
19-45412056-G-C | c.503G>C | p.Arg168Pro | Missense | 4/4 | - | 1 |
19-45412070-CTG-TTT | c.517_519delinsTTT | p.Leu173Phe | Missense | 4/4 | - | 1 |
19-45412071-T-C | c.518T>C | p.Leu173Pro | Missense | 4/4 | - | 1 |
19-45412079-C-T | c.526C>T | p.Arg176Cys | Missense | 4/4 | - | 1366 |
19-45412080-G-C | c.527G>C | p.Arg176Pro | Missense | 4/4 | - | 2 |
19-45412081-C-A | c.528C>A | p.Arg176Arg | Synonymous | 4/4 | - | 1 |
19-45412081-C-G | c.528C>G | p.Arg176Arg | Synonymous | 4/4 | - | 1 |
19-45412081-C-T | c.528C>T | p.Arg176Arg | Synonymous | 4/4 | - | 1 |
19-45412107-G-A | c.554G>A | p.Arg185His | Missense | 4/4 | - | 1 |
19-45412118-G-A | c.565G>A | p.Glu189Lys | Missense | 4/4 | - | 1 |
19-45412124-GGC-TGA | c.571_573delinsTGA | p.Gly191* | Nonsense | 4/4 | - | 1 |
19-45412125-GC-AG | c.572_573delinsAG | p.Gly191Glu | Missense | 4/4 | - | 1 |
19-45412145-C-T | c.592C>T | p.Arg198Cys | Missense | 4/4 | - | 1 |
19-45412148-CTG-TTT | c.595_597delinsTTT | p.Leu199Phe | Missense | 4/4 | - | 1 |
19-45412167-A-G | c.614A>G | p.Gln205Arg | Missense | 4/4 | - | 1 |
19-45412170-G-A | c.617G>A | p.Gly206Asp | Missense | 4/4 | - | 1 |
19-45412170-G-C | c.617G>C | p.Gly206Ala | Missense | 4/4 | - | 4 |
19-45412170-G-T | c.617G>T | p.Gly206Val | Missense | 4/4 | - | 1 |
19-45412172-C-T | c.619C>T | p.Arg207Cys | Missense | 4/4 | - | 1 |
19-45412197-C-G | c.644C>G | p.Ser215Cys | Missense | 4/4 | - | 3 |
19-45412197-C-T | c.644C>T | p.Ser215Phe | Missense | 4/4 | - | 1 |
19-45412210-G-C | c.657G>C | p.Gln219His | Missense | 4/4 | - | 1 |
19-45412219-G-C | c.666G>C | p.Gln222His | Missense | 4/4 | - | 1 |
19-45412219-G-T | c.666G>T | p.Gln222His | Missense | 4/4 | - | 1 |
19-45412244-C-G | c.691C>G | p.Arg231Gly | Missense | 4/4 | - | 1 |
19-45412256-C-T | c.703C>T | p.Arg235Trp | Missense | 4/4 | - | 1 |
19-45412262-G-A | c.709G>A | p.Glu237Lys | Missense | 4/4 | - | 1 |
19-45412269-T-A | c.716T>A | p.Met239Lys | Missense | 4/4 | - | 2 |
19-45412270-G-A | c.717G>A | p.Met239Ile | Missense | 4/4 | - | 2 |
19-45412270-G-C | c.717G>C | p.Met239Ile | Missense | 4/4 | - | 2 |
19-45412270-G-T | c.717G>T | p.Met239Ile | Missense | 4/4 | - | 2 |
19-45412289-C-T | c.736C>T | p.Arg246Cys | Missense | 4/4 | - | 1 |
19-45412314-T-A | c.761T>A | p.Val254Glu | Missense | 4/4 | - | 4 |
19-45412317-C-T | c.764C>T | p.Ala255Val | Missense | 4/4 | - | 1 |
19-45412319-G-C | c.766G>C | p.Glu256Gln | Missense | 4/4 | - | 1 |
19-45412334-CT-GC | c.781_782delinsGC | p.Leu261Ala | Missense | 4/4 | - | 1 |
19-45412337-G-A | c.784G>A | p.Glu262Lys | Missense | 4/4 | - | 2 |
19-45412340-G-A | c.787G>A | p.Glu263Lys | Missense | 4/4 | - | 2 |
19-45412358-C-G | c.805C>G | p.Arg269Gly | Missense | 4/4 | - | 2 |
19-45412358-C-T | c.805C>T | p.Arg269Cys | Missense | 4/4 | - | 1 |
19-45412359-G-A | c.806G>A | p.Arg269His | Missense | 4/4 | - | 2 |
19-45412361-CT-GA | c.808_809delinsGA | p.Leu270Glu | Missense | 4/4 | - | 1 |
19-45412385-CG-AT | c.832_833delinsAT | p.Arg278Ile | Missense | 4/4 | - | 1 |
19-45412389-TC-AA | c.836_837delinsAA | p.Leu279Gln | Missense | 4/4 | - | 5 |
19-45412409-C-G | c.856C>G | p.Leu286Val | Missense | 4/4 | - | 2 |
19-45412410-T-C | c.857T>C | p.Leu286Pro | Missense | 4/4 | - | 1 |
19-45412413-T-A | c.860T>A | p.Val287Glu | Missense | 4/4 | - | 8 |
19-45412428-G-A | c.875G>A | p.Arg292His | Missense | 4/4 | - | 1 |
19-45412435-G-T | c.882G>T | p.Trp294Cys | Missense | 4/4 | - | 1 |
19-45412451-A-G | c.898A>G | p.Lys300Glu | Missense | 4/4 | - | 1 |
19-45412478-G-A | c.925G>A | p.Ala309Thr | Missense | 4/4 | - | 2 |
19-45412483-C-A | c.930C>A | p.Ala310Ala | Synonymous | 4/4 | - | 1 |
19-45412483-C-G | c.930C>G | p.Ala310Ala | Synonymous | 4/4 | - | 1 |
19-45412483-C-T | c.930C>T | p.Ala310Ala | Synonymous | 4/4 | - | 1 |
19-45412493-A-C | c.940A>C | p.Ser314Arg | Missense | 4/4 | - | 1 |
19-45412532-C-T | c.*25C>T | - | 3-UTRSNV | 4/4 | - | 1 |