LPL lipoprotein lipase

Canonical transcript: NM_000237

414 unique variant annotations were identified in 914 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
8-19796832-C-T c.-120C>T - 5-UTRSNV 1/10 - 1
8-19796952-GATGGAGAGCAAAGCCCTGCTCGTGCTGACTCTGGCCGTGTGGCTCCAGAGTCTGACCGC-G c.1_59del p.Met1_?20 Multi:SpliceDonorDeletion,CdsStartDeletion 1/10 - 1
8-19796953-T-C c.2T>C p.Met1? Missense 1/10 - 1
8-19796961-A-ATTCG c.10_11insTTCG p.Lys4Ilefs*38 Frameshift 1/10 - 1
8-19796978-G-A c.27G>A p.Leu9Leu Synonymous 1/10 - 2
8-19796985-G-C c.34G>C p.Ala12Pro Missense 1/10 - 1
8-19796987-C-A c.36C>A p.Ala12Ala Synonymous 1/10 - 1
8-19796987-C-G c.36C>G p.Ala12Ala Synonymous 1/10 - 1
8-19796987-C-T c.36C>T p.Ala12Ala Synonymous 1/10 - 1
8-19796992-G-T c.41G>T p.Trp14Leu Missense 1/10 - 3
8-19796993-G-A c.42G>A p.Trp14* Nonsense 1/10 - 2
8-19797000-A-G c.49A>G p.Ser17Gly Missense 1/10 - 1
8-19797000-AG-GC c.49_50delinsGC p.Ser17Ala Missense 1/10 - 1
8-19797000-AGT-TGA c.49_51delinsTGA p.Ser17* Nonsense 1/10 - 2
8-19797003-CT-GC c.52_53delinsGC p.Leu18Ala Missense 1/10 - 1
8-19797007-C-G c.56C>G p.Thr19Ser Missense 1/10 - 2
8-19797027-GC-TT c.76_77delinsTT p.Ala26Phe Missense 1/10 - 1
8-19797037-A-C c.86A>C p.Asp29Ala Missense 1/10 - 1
8-19797041-T-TT c.88+2dup - IntronicInsertion - 1/9 1
8-19797916-G-C c.88+877G>C - IntronicSNV - 1/9 1
8-19797916-G-T c.88+877G>T - IntronicSNV - 1/9 1
8-19799139-G-A c.88+2100G>A - IntronicSNV - 1/9 1
8-19799545-G-C c.88+2506G>C - IntronicSNV - 1/9 4
8-19799641-G-A c.88+2602G>A - IntronicSNV - 1/9 13
8-19799641-G-T c.88+2602G>T - IntronicSNV - 1/9 13
8-19800005-A-G c.88+2966A>G - IntronicSNV - 1/9 7
8-19800341-G-A c.88+3302G>A - IntronicSNV - 1/9 2
8-19801112-G-A c.88+4073G>A - IntronicSNV - 1/9 5
8-19801530-T-G c.89-4161T>G - IntronicSNV - 1/9 2
8-19802402-C-T c.89-3289C>T - IntronicSNV - 1/9 3
8-19802711-T-C c.89-2980T>C - IntronicSNV - 1/9 4
8-19802894-G-A c.89-2797G>A - IntronicSNV - 1/9 3
8-19802894-G-T c.89-2797G>T - IntronicSNV - 1/9 3
8-19802969-C-G c.89-2722C>G - IntronicSNV - 1/9 3
8-19803084-T-C c.89-2607T>C - IntronicSNV - 1/9 5
8-19803093-C-T c.89-2598C>T - IntronicSNV - 1/9 16
8-19803137-T-C c.89-2554T>C - IntronicSNV - 1/9 1
8-19803802-A-C c.89-1889A>C - IntronicSNV - 1/9 4
8-19804596-A-G c.89-1095A>G - IntronicSNV - 1/9 3
8-19805170-C-G c.89-521C>G - IntronicSNV - 1/9 1
8-19805170-C-T c.89-521C>T - IntronicSNV - 1/9 1
8-19805696-AAGAGA-A c.94_98del p.Arg32Phefs*7 Frameshift 2/10 - 1
8-19805696-AG-CA c.94_95delinsCA p.Arg32Gln Missense 2/10 - 2
8-19805702-TT-GA c.100_101delinsGA p.Phe34Asp Missense 2/10 - 1
8-19805707-C-T c.105C>T p.Ile35Ile Synonymous 2/10 - 1
8-19805708-G-A c.106G>A p.Asp36Asn Missense 2/10 - 66
8-19805708-G-C c.106G>C p.Asp36His Missense 2/10 - 50
8-19805709-A-C c.107A>C p.Asp36Ala Missense 2/10 - 1
8-19805710-C-T c.108C>T p.Asp36Asp Synonymous 2/10 - 1
8-19805714-G-A c.112G>A p.Glu38Lys Missense 2/10 - 1
8-19805735-A-C c.133A>C p.Thr45Pro Missense 2/10 - 2
8-19805735-A-T c.133A>T p.Thr45Ser Missense 2/10 - 4
8-19805736-C-A c.134C>A p.Thr45Asn Missense 2/10 - 1
8-19805736-C-G c.134C>G p.Thr45Ser Missense 2/10 - 4
8-19805745-A-G c.143A>G p.Asp48Gly Missense 2/10 - 1
8-19805745-A-T c.143A>T p.Asp48Val Missense 2/10 - 1
8-19805751-C-G c.149C>G p.Ala50Gly Missense 2/10 - 1
8-19805764-C-A c.162C>A p.Cys54* Nonsense 2/10 - 2
8-19805784-C-A c.182C>A p.Ala61Glu Missense 2/10 - 1
8-19805801-TG-GC c.199_200delinsGC p.Cys67Ala Missense 2/10 - 1
8-19805811-A-G c.209A>G p.Asn70Ser Missense 2/10 - 1
8-19805815-C-G c.213C>G p.His71Gln Missense 2/10 - 3
8-19805815-C-T c.213C>T p.His71His Synonymous 2/10 - 2
8-19805817-G-A c.215G>A p.Ser72Asn Missense 2/10 - 1
8-19805834-G-A c.232G>A p.Val78Met Missense 2/10 - 1
8-19805946-C-T c.249+95C>T - IntronicSNV - 2/9 1
8-19806381-G-A c.249+530G>A - IntronicSNV - 2/9 1
8-19806457-A-AA c.249+606dup - IntronicInsertion - 2/9 1
8-19806568-C-A c.249+717C>A - IntronicSNV - 2/9 2
8-19806631-T-C c.249+780T>C - IntronicSNV - 2/9 12
8-19806671-C-G c.249+820C>G - IntronicSNV - 2/9 4
8-19807155-G-A c.249+1304G>A - IntronicSNV - 2/9 1
8-19807341-A-C c.249+1490A>C - IntronicSNV - 2/9 1
8-19808030-G-A c.250-1250G>A - IntronicSNV - 2/9 5
8-19808131-G-A c.250-1149G>A - IntronicSNV - 2/9 2
8-19808131-G-T c.250-1149G>T - IntronicSNV - 2/9 2
8-19808584-G-A c.250-696G>A - IntronicSNV - 2/9 1
8-19808584-G-T c.250-696G>T - IntronicSNV - 2/9 1
8-19808737-G-A c.250-543G>A - IntronicSNV - 2/9 2
8-19808737-G-T c.250-543G>T - IntronicSNV - 2/9 2
8-19809286-G-A c.256G>A p.Gly86Arg Missense 3/10 - 2
8-19809286-G-C c.256G>C p.Gly86Arg Missense 3/10 - 2
8-19809287-G-C c.257G>C p.Gly86Ala Missense 3/10 - 1
8-19809294-T-A c.264T>A p.Tyr88* Nonsense 3/10 - 2
8-19809295-G-A c.265G>A p.Glu89Lys Missense 3/10 - 1
8-19809302-G-A c.272G>A p.Trp91* Nonsense 3/10 - 1
8-19809303-G-A c.273G>A p.Trp91* Nonsense 3/10 - 1
8-19809310-AA-GC c.280_281delinsGC p.Lys94Ala Missense 3/10 - 1
8-19809313-C-A c.283C>A p.Leu95Ile Missense 3/10 - 1
8-19809316-G-C c.286G>C p.Val96Leu Missense 3/10 - 1
8-19809322-G-A c.292G>A p.Ala98Thr Missense 3/10 - 5
8-19809322-G-C c.292G>C p.Ala98Pro Missense 3/10 - 1
8-19809323-C-T c.293C>T p.Ala98Val Missense 3/10 - 1
8-19809330-C-A c.300C>A p.Tyr100* Nonsense 3/10 - 1
8-19809330-C-G c.300C>G p.Tyr100* Nonsense 3/10 - 1
8-19809334-A-G c.304A>G p.Arg102Gly Missense 3/10 - 3
8-19809336-A-C c.306A>C p.Arg102Ser Missense 3/10 - 1
8-19809336-A-T c.306A>T p.Arg102Ser Missense 3/10 - 1
8-19809354-C-A c.324C>A p.Val108Val Synonymous 3/10 - 1
8-19809354-C-G c.324C>G p.Val108Val Synonymous 3/10 - 1
8-19809354-C-T c.324C>T p.Val108Val Synonymous 3/10 - 1
8-19809365-A-C c.335A>C p.Asp112Ala Missense 3/10 - 1
8-19809367-T-C c.337T>C p.Trp113Arg Missense 3/10 - 2
8-19809377-G-A c.347G>A p.Arg116Gln Missense 3/10 - 1
8-19809378-G-GAGTACCATTC c.348_349insAGTACCATTC p.Ala117Serfs*34 Frameshift 3/10 - 1
8-19809382-C-T c.352C>T p.Gln118* Nonsense 3/10 - 1
8-19809385-G-A c.355G>A p.Glu119Lys Missense 3/10 - 1
8-19809427-C-T c.397C>T p.Gln133* Nonsense 3/10 - 2
8-19809433-G-A c.403G>A p.Val135Met Missense 3/10 - 1
8-19809435-G-A c.405G>A p.Val135Val Synonymous 3/10 - 9
8-19809435-G-C c.405G>C p.Val135Val Synonymous 3/10 - 1
8-19809435-G-T c.405G>T p.Val135Val Synonymous 3/10 - 1
8-19809436-G-C c.406G>C p.Ala136Pro Missense 3/10 - 1
8-19809460-G-GAGAG c.429+1_429+2insAGAG - SpliceDonorInsertion - 3/9 1
8-19809479-A-C c.429+20A>C - IntronicSNV - 3/9 1
8-19809479-A-G c.429+20A>G - IntronicSNV - 3/9 1
8-19809479-A-T c.429+20A>T - IntronicSNV - 3/9 1
8-19809695-T-C c.429+236T>C - IntronicSNV - 3/9 2
8-19809822-C-G c.429+363C>G - IntronicSNV - 3/9 1
8-19809822-C-T c.429+363C>T - IntronicSNV - 3/9 1
8-19810787-C-A c.430-34C>A - IntronicSNV - 3/9 18
8-19810791-A-C c.430-30A>C - IntronicSNV - 3/9 4
8-19810815-C-T c.430-6C>T - IntronicSNV - 3/9 2
8-19810826-G-A c.435G>A p.Glu145Glu Synonymous 4/10 - 14
8-19810831-A-G c.440A>G p.Asn147Ser Missense 4/10 - 3
8-19810848-GTC-ATG c.457_459delinsATG p.Val153Met Missense 4/10 - 1
8-19810848-GTC-TAA c.457_459delinsTAA p.Val153* Nonsense 4/10 - 1
8-19810866-A-G c.475A>G p.Ser159Gly Missense 4/10 - 2
8-19810867-G-A c.476G>A p.Ser159Asn Missense 4/10 - 1
8-19810869-C-T c.478C>T p.Leu160Phe Missense 4/10 - 1
8-19810873-G-A c.482G>A p.Gly161Glu Missense 4/10 - 1
8-19810881-G-T c.490G>T p.Ala164Ser Missense 4/10 - 2
8-19810887-G-A c.496G>A p.Gly166Ser Missense 4/10 - 1
8-19810909-A-G c.518A>G p.Asn173Ser Missense 4/10 - 1
8-19810932-G-A c.541G>A p.Gly181Ser Missense 4/10 - 1
8-19811006-T-C c.541+74T>C - IntronicSNV - 4/9 12
8-19811028-TG-TGTG c.541+96_541+97dup - IntronicInsertion - 4/9 6
8-19811160-T-C c.541+228T>C - IntronicSNV - 4/9 3
8-19811417-C-T c.542-214C>T - IntronicSNV - 4/9 19
8-19811631-GC-AG c.542_543delinsAG p.Gly181Glu Missense 5/10 - 2
8-19811637-A-G c.548A>G p.Asp183Gly Missense 5/10 - 2
8-19811640-C-G c.551C>G p.Pro184Arg Missense 5/10 - 1
8-19811642-G-T c.553G>T p.Ala185Ser Missense 5/10 - 1
8-19811657-G-C c.568G>C p.Glu190Gln Missense 5/10 - 1
8-19811667-A-C c.578A>C p.Glu193Ala Missense 5/10 - 1
8-19811675-AG-GC c.586_587delinsGC p.Ser196Ala Missense 5/10 - 1
8-19811679-G-A c.590G>A p.Arg197His Missense 5/10 - 1
8-19811688-CC-C c.599del p.Pro200Leufs*7 Frameshift 5/10 - 1
8-19811691-A-T c.602A>T p.Asp201Val Missense 5/10 - 3
8-19811692-T-A c.603T>A p.Asp201Glu Missense 5/10 - 1
8-19811692-T-G c.603T>G p.Asp201Glu Missense 5/10 - 1
8-19811695-T-A c.606T>A p.Asp202Glu Missense 5/10 - 1
8-19811695-T-G c.606T>G p.Asp202Glu Missense 5/10 - 1
8-19811699-GA-TG c.610_611delinsTG p.Asp204Cys Missense 5/10 - 1
8-19811706-T-C c.617T>C p.Val206Ala Missense 5/10 - 1
8-19811717-C-G c.628C>G p.His210Asp Missense 5/10 - 1
8-19811718-A-G c.629A>G p.His210Arg Missense 5/10 - 1
8-19811718-A-T c.629A>T p.His210Leu Missense 5/10 - 1
8-19811731-A-C c.642A>C p.Arg214Ser Missense 5/10 - 1
8-19811733-G-A c.644G>A p.Gly215Glu Missense 5/10 - 12
8-19811733-G-C c.644G>C p.Gly215Ala Missense 5/10 - 4
8-19811734-G-A c.645G>A p.Gly215Gly Synonymous 5/10 - 1
8-19811744-CG-AA c.655_656delinsAA p.Arg219Lys Missense 5/10 - 1
8-19811751-T-A c.662T>A p.Ile221Asn Missense 5/10 - 1
8-19811751-T-C c.662T>C p.Ile221Thr Missense 5/10 - 1
8-19811766-C-T c.677C>T p.Pro226Leu Missense 5/10 - 1
8-19811769-T-G c.680T>G p.Val227Gly Missense 5/10 - 1
8-19811776-T-C c.687T>C p.His229His Synonymous 5/10 - 1
8-19811790-C-T c.701C>T p.Pro234Leu Missense 5/10 - 3
8-19811809-G-C c.720G>C p.Gln240His Missense 5/10 - 2
8-19811809-G-T c.720G>T p.Gln240His Missense 5/10 - 2
8-19811810-C-T c.721C>T p.Pro241Ser Missense 5/10 - 1
8-19811834-A-G c.745A>G p.Ile249Val Missense 5/10 - 1
8-19811844-T-C c.755T>C p.Ile252Thr Missense 5/10 - 1
8-19811858-C-CCA c.769_770insCA p.Leu257Profs*8 Frameshift 5/10 - 1
8-19811897-C-G c.775+33C>G - IntronicSNV - 5/9 12
8-19811901-T-C c.775+37T>C - IntronicSNV - 5/9 19
8-19811967-C-T c.775+103C>T - IntronicSNV - 5/9 18
8-19812228-A-C c.775+364A>C - IntronicSNV - 5/9 2
8-19812252-G-A c.775+388G>A - IntronicSNV - 5/9 11
8-19812252-G-C c.775+388G>C - IntronicSNV - 5/9 11
8-19812252-G-T c.775+388G>T - IntronicSNV - 5/9 11
8-19812437-A-T c.775+573A>T - IntronicSNV - 5/9 5
8-19812509-C-G c.775+645C>G - IntronicSNV - 5/9 6
8-19812620-A-G c.776-732A>G - IntronicSNV - 5/9 4
8-19812812-C-T c.776-540C>T - IntronicSNV - 5/9 27
8-19813180-G-A c.776-172G>A - IntronicSNV - 5/9 89
8-19813269-C-G c.776-83C>G - IntronicSNV - 5/9 2
8-19813299-A-G c.776-53A>G - IntronicSNV - 5/9 3
8-19813308-G-C c.776-44G>C - IntronicSNV - 5/9 1
8-19813318-C-T c.776-34C>T - IntronicSNV - 5/9 2
8-19813357-G-A c.781G>A p.Asp261Asn Missense 6/10 - 1
8-19813360-C-T c.784C>T p.Gln262* Nonsense 6/10 - 1
8-19813374-C-A c.798C>A p.Cys266* Nonsense 6/10 - 1
8-19813374-C-G c.798C>G p.Cys266Trp Missense 6/10 - 2
8-19813374-C-T c.798C>T p.Cys266Cys Synonymous 6/10 - 1
8-19813376-C-T c.800C>T p.Ser267Phe Missense 6/10 - 1
8-19813378-C-T c.802C>T p.His268Tyr Missense 6/10 - 1
8-19813381-G-A c.805G>A p.Glu269Lys Missense 6/10 - 1
8-19813384-C-G c.808C>G p.Arg270Gly Missense 6/10 - 3
8-19813384-C-T c.808C>T p.Arg270Cys Missense 6/10 - 5
8-19813385-G-A c.809G>A p.Arg270His Missense 6/10 - 5
8-19813388-C-G c.812C>G p.Ser271Cys Missense 6/10 - 1
8-19813399-TT-GC c.823_824delinsGC p.Phe275Ala Missense 6/10 - 2
8-19813405-G-A c.829G>A p.Asp277Asn Missense 6/10 - 4
8-19813405-G-C c.829G>C p.Asp277His Missense 6/10 - 1
8-19813409-C-G c.833C>G p.Ser278Cys Missense 6/10 - 1
8-19813411-C-G c.835C>G p.Leu279Val Missense 6/10 - 10
8-19813411-CT-GC c.835_836delinsGC p.Leu279Ala Missense 6/10 - 1
8-19813412-T-G c.836T>G p.Leu279Arg Missense 6/10 - 3
8-19813416-TG-T c.840del p.Asn281Metfs*23 Frameshift 6/10 - 1
8-19813423-G-A c.847G>A p.Glu283Lys Missense 6/10 - 1
8-19813432-A-G c.856A>G p.Ser286Gly Missense 6/10 - 1
8-19813432-A-C c.856A>C p.Ser286Arg Missense 6/10 - 1
8-19813434-T-A c.858T>A p.Ser286Arg Missense 6/10 - 1
8-19813434-T-G c.858T>G p.Ser286Arg Missense 6/10 - 1
8-19813438-G-A c.862G>A p.Ala288Thr Missense 6/10 - 2
8-19813441-T-C c.865T>C p.Tyr289His Missense 6/10 - 1
8-19813443-C-A c.867C>A p.Tyr289* Nonsense 6/10 - 1
8-19813443-C-G c.867C>G p.Tyr289* Nonsense 6/10 - 1
8-19813448-G-A c.872G>A p.Cys291Tyr Missense 6/10 - 2
8-19813449-C-A c.873C>A p.Cys291* Nonsense 6/10 - 1
8-19813450-A-G c.874A>G p.Ser292Gly Missense 6/10 - 1
8-19813465-T-C c.889T>C p.Phe297Leu Missense 6/10 - 1
8-19813467-T-A c.891T>A p.Phe297Leu Missense 6/10 - 1
8-19813467-T-G c.891T>G p.Phe297Leu Missense 6/10 - 1
8-19813470-G-C c.894G>C p.Glu298Asp Missense 6/10 - 19
8-19813470-G-T c.894G>T p.Glu298Asp Missense 6/10 - 19
8-19813477-CT-AG c.901_902inv p.Leu301Ser Missense 6/10 - 1
8-19813477-GC-G c.901del p.Leu301Serfs*3 Frameshift 6/10 - 1
8-19813480-T-C c.904T>C p.Cys302Arg Missense 6/10 - 1
8-19813485-G-C c.909G>C p.Leu303Phe Missense 6/10 - 1
8-19813485-G-T c.909G>T p.Leu303Phe Missense 6/10 - 1
8-19813489-T-C c.913T>C p.Cys305Arg Missense 6/10 - 1
8-19813504-T-C c.928T>C p.Cys310Arg Missense 6/10 - 2
8-19813512-T-A c.936T>A p.Asn312Lys Missense 6/10 - 1
8-19813512-T-G c.936T>G p.Asn312Lys Missense 6/10 - 1
8-19813521-T-A c.945T>A p.Tyr315* Nonsense 6/10 - 1
8-19813521-T-G c.945T>G p.Tyr315* Nonsense 6/10 - 1
8-19813529-A-G c.953A>G p.Asn318Ser Missense 6/10 - 95
8-19813544-A-T c.968A>T p.Lys323Ile Missense 6/10 - 1
8-19813546-AG-GC c.970_971delinsGC p.Arg324Ala Missense 6/10 - 2
8-19813549-A-C c.973A>C p.Ser325Arg Missense 6/10 - 1
8-19813551-C-A c.975C>A p.Ser325Arg Missense 6/10 - 1
8-19813551-C-G c.975C>G p.Ser325Arg Missense 6/10 - 1
8-19813559-T-C c.983T>C p.Met328Thr Missense 6/10 - 1
8-19813559-T-G c.983T>G p.Met328Arg Missense 6/10 - 1
8-19813561-T-G c.985T>G p.Tyr329Asp Missense 6/10 - 1
8-19813563-C-A c.987C>A p.Tyr329* Nonsense 6/10 - 1
8-19813563-C-G c.987C>G p.Tyr329* Nonsense 6/10 - 1
8-19813565-T-C c.989T>C p.Leu330Pro Missense 6/10 - 1
8-19813574-G-A c.998G>A p.Arg333His Missense 6/10 - 2
8-19813591-A-C c.1015A>C p.Lys339Gln Missense 6/10 - 1
8-19813610-T-C c.1018+16T>C - IntronicSNV - 6/9 2
8-19813667-T-G c.1018+73T>G - IntronicSNV - 6/9 9
8-19813676-C-A c.1018+82C>A - IntronicSNV - 6/9 16
8-19813702-G-A c.1018+108G>A - IntronicSNV - 6/9 23
8-19813702-G-T c.1018+108G>T - IntronicSNV - 6/9 23
8-19813928-C-A c.1018+334C>A - IntronicSNV - 6/9 2
8-19813928-C-G c.1018+334C>G - IntronicSNV - 6/9 2
8-19814233-C-T c.1018+639C>T - IntronicSNV - 6/9 4
8-19814289-T-C c.1018+695T>C - IntronicSNV - 6/9 3
8-19814403-T-C c.1018+809T>C - IntronicSNV - 6/9 3
8-19814523-G-A c.1018+929G>A - IntronicSNV - 6/9 3
8-19814523-G-C c.1018+929G>C - IntronicSNV - 6/9 3
8-19814696-C-G c.1018+1102C>G - IntronicSNV - 6/9 6
8-19814882-G-A c.1018+1288G>A - IntronicSNV - 6/9 5
8-19814988-G-A c.1018+1394G>A - IntronicSNV - 6/9 1
8-19815023-A-T c.1018+1429A>T - IntronicSNV - 6/9 19
8-19815026-C-G c.1018+1432C>G - IntronicSNV - 6/9 4
8-19815098-C-T c.1018+1504C>T - IntronicSNV - 6/9 11
8-19815106-T-C c.1018+1512T>C - IntronicSNV - 6/9 3
8-19815189-C-T c.1019-1582C>T - IntronicSNV - 6/9 52
8-19815256-A-T c.1019-1515A>T - IntronicSNV - 6/9 9
8-19815556-A-G c.1019-1215A>G - IntronicSNV - 6/9 5
8-19815556-A-T c.1019-1215A>T - IntronicSNV - 6/9 5
8-19815591-C-A c.1019-1180C>A - IntronicSNV - 6/9 2
8-19815591-C-T c.1019-1180C>T - IntronicSNV - 6/9 2
8-19815619-T-C c.1019-1152T>C - IntronicSNV - 6/9 7
8-19815769-G-A c.1019-1002G>A - IntronicSNV - 6/9 2
8-19815852-T-C c.1019-919T>C - IntronicSNV - 6/9 7
8-19816055-G-A c.1019-716G>A - IntronicSNV - 6/9 4
8-19816125-T-C c.1019-646T>C - IntronicSNV - 6/9 5
8-19816238-A-C c.1019-533A>C - IntronicSNV - 6/9 25
8-19816244-G-A c.1019-527G>A - IntronicSNV - 6/9 3
8-19816244-G-T c.1019-527G>T - IntronicSNV - 6/9 3
8-19816371-T-C c.1019-400T>C - IntronicSNV - 6/9 11
8-19816584-C-T c.1019-187C>T - IntronicSNV - 6/9 1
8-19816796-ATTTTTCT-A c.1044_1050del p.His348Glnfs*43 Frameshift 7/10 - 1
8-19816832-G-C c.1080G>C p.Gln360His Missense 7/10 - 8
8-19816832-G-T c.1080G>T p.Gln360His Missense 7/10 - 8
8-19816833-G-GAGTA c.1081_1082insAGTA p.Ala361Glufs*4 Frameshift 7/10 - 1
8-19816860-G-A c.1108G>A p.Val370Met Missense 7/10 - 7
8-19816867-A-AA c.1115dup p.Ser373Glufs*2 Frameshift 7/10 - 1
8-19816871-T-TACCATTC c.1119_1120insACCATTC p.Glu374Thrfs*11 Frameshift 7/10 - 1
8-19816873-A-AAGAGCGC c.1121_1122insAGAGCGC p.Asn375Glufs*10 Frameshift 7/10 - 1
8-19816880-C-T c.1128C>T p.Ile376Ile Synonymous 7/10 - 2
8-19816887-A-G c.1135A>G p.Thr379Ala Missense 7/10 - 5
8-19816888-C-T c.1136C>T p.Thr379Ile Missense 7/10 - 1
8-19816890-TCT-T c.1138_1139del p.Leu380Alafs*2 SpliceDonorDeletion 7/10 - 1
8-19816934-T-C c.1139+43T>C - IntronicSNV - 7/9 48
8-19816967-C-T c.1139+76C>T - IntronicSNV - 7/9 5
8-19817279-G-C c.1139+388G>C - IntronicSNV - 7/9 5
8-19817361-T-G c.1139+470T>G - IntronicSNV - 7/9 7
8-19817401-A-G c.1139+510A>G - IntronicSNV - 7/9 21
8-19817443-G-A c.1139+552G>A - IntronicSNV - 7/9 15
8-19817455-A-G c.1139+564A>G - IntronicSNV - 7/9 6
8-19817476-T-G c.1139+585T>G - IntronicSNV - 7/9 2
8-19817546-C-T c.1139+655C>T - IntronicSNV - 7/9 6
8-19817997-G-C c.1140-415G>C - IntronicSNV - 7/9 8
8-19818026-A-G c.1140-386A>G - IntronicSNV - 7/9 4
8-19818042-G-A c.1140-370G>A - IntronicSNV - 7/9 12
8-19818095-T-C c.1140-317T>C - IntronicSNV - 7/9 6
8-19818355-G-A c.1140-57G>A - IntronicSNV - 7/9 1
8-19818436-C-A c.1164C>A p.Thr388Thr Synonymous 8/10 - 26
8-19818436-C-G c.1164C>G p.Thr388Thr Synonymous 8/10 - 2
8-19818436-C-T c.1164C>T p.Thr388Thr Synonymous 8/10 - 26
8-19818441-C-G c.1169C>G p.Ser390Cys Missense 8/10 - 1
8-19818441-C-T c.1169C>T p.Ser390Phe Missense 8/10 - 1
8-19818446-C-G c.1174C>G p.Leu392Val Missense 8/10 - 1
8-19818446-C-T c.1174C>T p.Leu392Leu Synonymous 8/10 - 1
8-19818456-C-T c.1184C>T p.Thr395Ile Missense 8/10 - 1
8-19818459-A-T c.1187A>T p.Glu396Val Missense 8/10 - 1
8-19818464-G-A c.1192G>A p.Asp398Asn Missense 8/10 - 1
8-19818483-T-G c.1211T>G p.Met404Arg Missense 8/10 - 2
8-19818499-G-A c.1227G>A p.Trp409* Nonsense 8/10 - 2
8-19818506-G-A c.1234G>A p.Asp412Asn Missense 8/10 - 1
8-19818507-A-C c.1235A>C p.Asp412Ala Missense 8/10 - 1
8-19818521-TGG-AAC c.1249_1251delinsAAC p.Trp417Asn Missense 8/10 - 1
8-19818530-TGG-AAC c.1258_1260delinsAAC p.Trp420Asn Missense 8/10 - 1
8-19818530-TG-GC c.1258_1259delinsGC p.Trp420Ala Missense 8/10 - 1
8-19818533-TGG-AAC c.1261_1263delinsAAC p.Trp421Asn Missense 8/10 - 1
8-19818534-G-A c.1262G>A p.Trp421* Nonsense 8/10 - 2
8-19818551-G-A c.1279G>A p.Ala427Thr Missense 8/10 - 6
8-19818567-G-C c.1295G>C p.Arg432Thr Missense 8/10 - 1
8-19818574-A-T c.1302A>T p.Lys434Asn Missense 8/10 - 2
8-19818575-AGC-A c.1303_1304del p.Ala435Argfs*12 Frameshift 8/10 - 1
8-19818578-G-A c.1306G>A p.Gly436Arg Missense 8/10 - 2
8-19818595-G-A c.1322+1G>A - IntronicSNV - 8/9 1
8-19818771-A-G c.1322+177A>G - IntronicSNV - 8/9 5
8-19818771-A-T c.1322+177A>T - IntronicSNV - 8/9 5
8-19818773-G-A c.1322+179G>A - IntronicSNV - 8/9 2
8-19818773-G-C c.1322+179G>C - IntronicSNV - 8/9 2
8-19818773-G-T c.1322+179G>T - IntronicSNV - 8/9 2
8-19818969-C-G c.1322+375C>G - IntronicSNV - 8/9 3
8-19818976-A-C c.1322+382A>C - IntronicSNV - 8/9 7
8-19819077-T-A c.1322+483T>A - IntronicSNV - 8/9 58
8-19819077-T-G c.1322+483T>G - IntronicSNV - 8/9 58
8-19819186-G-C c.1323-440G>C - IntronicSNV - 8/9 3
8-19819217-A-C c.1323-409A>C - IntronicSNV - 8/9 7
8-19819221-A-C c.1323-405A>C - IntronicSNV - 8/9 1
8-19819328-T-C c.1323-298T>C - IntronicSNV - 8/9 26
8-19819439-A-G c.1323-187A>G - IntronicSNV - 8/9 60
8-19819536-T-G c.1323-90T>G - IntronicSNV - 8/9 32
8-19819637-G-A c.1334G>A p.Cys445Tyr Missense 9/10 - 3
8-19819640-C-T c.1337C>T p.Ser446Phe Missense 9/10 - 1
8-19819645-G-A c.1342G>A p.Glu448Lys Missense 9/10 - 4
8-19819675-GCA-TGT c.1372_1374delinsTGT p.Ala458Cys Missense 9/10 - 1
8-19819676-C-T c.1373C>T p.Ala458Val Missense 9/10 - 1
8-19819682-C-A c.1379C>A p.Ala460Glu Missense 9/10 - 1
8-19819682-C-T c.1379C>T p.Ala460Val Missense 9/10 - 1
8-19819698-C-A c.1395C>A p.Cys465* Nonsense 9/10 - 1
8-19819699-C-CC c.1396dup p.His466Profs*2 Frameshift 9/10 - 1
8-19819705-A-T c.1402A>T p.Lys468* Nonsense 9/10 - 1
8-19819723-T-A c.1420T>A p.Ser474Thr Missense 9/10 - 1
8-19819724-C-G c.1421C>G p.Ser474* Nonsense 9/10 - 305
8-19820086-A-G c.1427+356A>G - IntronicSNV - 9/9 5
8-19820396-G-A c.1427+666G>A - IntronicSNV - 9/9 5
8-19820405-G-A c.1427+675G>A - IntronicSNV - 9/9 34
8-19820433-T-C c.1427+703T>C - IntronicSNV - 9/9 22
8-19820480-C-T c.1427+750C>T - IntronicSNV - 9/9 1
8-19820853-G-A c.1427+1123G>A - IntronicSNV - 9/9 1
8-19820853-G-C c.1427+1123G>C - IntronicSNV - 9/9 1
8-19820916-C-T c.1427+1186C>T - IntronicSNV - 9/9 4
8-19820933-A-C c.1427+1203A>C - IntronicSNV - 9/9 2
8-19820995-T-C c.1427+1265T>C - IntronicSNV - 9/9 1
8-19820995-T-G c.1427+1265T>G - IntronicSNV - 9/9 1
8-19821233-A-G c.1427+1503A>G - IntronicSNV - 9/9 1
8-19821425-T-A c.*-1396T>A - IntronicSNV - 9/9 6
8-19821425-T-G c.*-1396T>G - IntronicSNV - 9/9 6
8-19821782-T-G c.*-1039T>G - IntronicSNV - 9/9 7
8-19821815-T-G c.*-1006T>G - IntronicSNV - 9/9 13
8-19822694-T-C c.*-127T>C - IntronicSNV - 9/9 2
8-19822810-C-T c.*-11C>T - IntronicSNV - 9/9 18
8-19822830-G-A c.*9G>A - 3-UTRSNV 10/10 - 16
8-19822850-G-A c.*29G>A - 3-UTRSNV 10/10 - 1
8-19823192-T-C c.*371T>C - 3-UTRSNV 10/10 - 17
8-19823269-C-T c.*448C>T - 3-UTRSNV 10/10 - 1
8-19823617-A-G c.*796A>G - 3-UTRSNV 10/10 - 10
8-19823617-A-T c.*796A>T - 3-UTRSNV 10/10 - 10
8-19823648-A-T c.*827A>T - 3-UTRSNV 10/10 - 15
8-19823674-C-G c.*853C>G - 3-UTRSNV 10/10 - 10
8-19823674-C-T c.*853C>T - 3-UTRSNV 10/10 - 10
8-19823770-G-A c.*949G>A - 3-UTRSNV 10/10 - 1
8-19823963-C-T c.*1142C>T - 3-UTRSNV 10/10 - 10
8-19823988-C-A c.*1167C>A - 3-UTRSNV 10/10 - 1
8-19824045-C-A c.*1224C>A - 3-UTRSNV 10/10 - 18
8-19824071-A-G c.*1250A>G - 3-UTRSNV 10/10 - 20
8-19824071-A-T c.*1250A>T - 3-UTRSNV 10/10 - 20
8-19824112-G-A c.*1291G>A - 3-UTRSNV 10/10 - 1
8-19824237-T-C c.*1416T>C - 3-UTRSNV 10/10 - 1
8-19824492-T-A c.*1671T>A - 3-UTRSNV 10/10 - 76
8-19824492-T-C c.*1671T>C - 3-UTRSNV 10/10 - 76
8-19824563-T-C c.*1742T>C - 3-UTRSNV 10/10 - 34
8-19824604-A-T c.*1783A>T - 3-UTRSNV 10/10 - 2
8-19824627-T-TT c.*1806dup - 3-UTRInsertion 10/10 - 2
8-19824627-T-TTT c.*1806_*1807insTT - 3-UTRInsertion 10/10 - 2
8-19824628-G-T c.*1807G>T - 3-UTRSNV 10/10 - 1
8-19824667-C-T c.*1846C>T - 3-UTRSNV 10/10 - 33
8-19824669-C-A c.*1848C>A - 3-UTRSNV 10/10 - 6
8-19824669-C-G c.*1848C>G - 3-UTRSNV 10/10 - 6
8-19824669-C-T c.*1848C>T - 3-UTRSNV 10/10 - 6
8-19824679-A-G c.*1858A>G - 3-UTRSNV 10/10 - 1
8-19824707-G-A c.*1886G>A - 3-UTRSNV 10/10 - 1