PCSK9 proprotein convertase subtilisin/kexin type 9

Canonical transcript: NM_174936

372 unique variant annotations were identified in 447 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-55505520-G-A c.10G>A p.Val4Ile Missense 1/12 - 4
1-55505547-CT-GC c.37_38delinsGC p.Leu13Ala Missense 1/12 - 1
1-55505552-A-AATGCTG c.42_43insATGCTG p.Pro14_Leu15insMetLeu InFrameInsertion 1/12 - 1
1-55505552-A-ATG c.42_43insTG p.Leu15Cysfs*30 Frameshift 1/12 - 2
1-55505553-C-CCTG c.43_44insCTG p.Leu15delinsProVal MultiAAMissense 1/12 - 1
1-55505553-CTG-ATC c.43_45delinsATC p.Leu15Ile Missense 1/12 - 1
1-55505571-C-CCTG c.61_62insCTG p.Leu21delinsProVal MultiAAMissense 1/12 - 1
1-55505571-CTG-TGT c.61_63delinsTGT p.Leu21Cys Missense 1/12 - 1
1-55505595-C-G c.85C>G p.Arg29Gly Missense 1/12 - 1
1-55505598-GCG-TTT c.88_90delinsTTT p.Ala30Phe Missense 1/12 - 1
1-55505601-CAG-AAC c.91_93delinsAAC p.Gln31Asn Missense 1/12 - 1
1-55505604-G-A c.94G>A p.Glu32Lys Missense 1/12 - 15
1-55505610-G-A c.100G>A p.Glu34Lys Missense 1/12 - 1
1-55505613-G-T c.103G>T p.Asp35Tyr Missense 1/12 - 1
1-55505619-G-T c.109G>T p.Asp37Tyr Missense 1/12 - 1
1-55505622-TAC-AAG c.112_114delinsAAG p.Tyr38Lys Missense 1/12 - 1
1-55505622-TA-CG c.112_113delinsCG p.Tyr38Arg Missense 1/12 - 1
1-55505622-TAC-GAG c.112_114delinsGAG p.Tyr38Glu Missense 1/12 - 1
1-55505622-TA-CT c.112_113delinsCT p.Tyr38Leu Missense 1/12 - 1
1-55505622-TA-GC c.112_113delinsGC p.Tyr38Ala Missense 1/12 - 1
1-55505623-A-T c.113A>T p.Tyr38Phe Missense 1/12 - 1
1-55505628-G-A c.118G>A p.Glu40Lys Missense 1/12 - 1
1-55505632-T-A c.122T>A p.Leu41Gln Missense 1/12 - 1
1-55505632-T-C c.122T>C p.Leu41Pro Missense 1/12 - 1
1-55505640-G-C c.130G>C p.Ala44Pro Missense 1/12 - 1
1-55505647-G-A c.137G>A p.Arg46His Missense 1/12 - 58
1-55505647-G-T c.137G>T p.Arg46Leu Missense 1/12 - 192
1-55505651-C-T c.141C>T p.Ser47Ser Synonymous 1/12 - 2
1-55505652-CG-C c.142del p.Glu48Argfs*35 Frameshift 1/12 - 1
1-55505659-A-G c.149A>G p.Asp50Gly Missense 1/12 - 1
1-55505668-C-G c.158C>G p.Ala53Gly Missense 1/12 - 13
1-55505668-C-T c.158C>T p.Ala53Val Missense 1/12 - 32
1-55505671-A-C c.161A>C p.Glu54Ala Missense 1/12 - 1
1-55505679-G-A c.169G>A p.Glu57Lys Missense 1/12 - 5
1-55505709-TG-GC c.199_200delinsGC p.Cys67Ala Missense 1/12 - 1
1-55505712-CG-C c.202del p.Ala68Profs*15 Frameshift 1/12 - 2
1-55505732-A-G c.207+15A>G - IntronicSNV - 1/11 1
1-55507285-T-C c.207+1568T>C - IntronicSNV - 1/11 1
1-55507649-C-T c.208-1867C>T - IntronicSNV - 1/11 1
1-55507956-G-A c.208-1560G>A - IntronicSNV - 1/11 1
1-55509213-G-A c.208-303G>A - IntronicSNV - 1/11 6
1-55509213-G-C c.208-303G>C - IntronicSNV - 1/11 6
1-55509516-G-A c.208G>A p.Asp70Asn Missense 2/12 - 1
1-55509516-GA-CC c.208_209delinsCC p.Asp70Pro Missense 2/12 - 1
1-55509522-T-G c.214T>G p.Trp72Gly Missense 2/12 - 1
1-55509540-TA-GC c.232_233delinsGC p.Tyr78Ala Missense 2/12 - 1
1-55509544-T-C c.236T>C p.Val79Ala Missense 2/12 - 1
1-55509547-T-C c.239T>C p.Val80Ala Missense 2/12 - 1
1-55509552-CT-GC c.244_245delinsGC p.Leu82Ala Missense 2/12 - 1
1-55509552-CT-TA c.244_245delinsTA p.Leu82* Nonsense 2/12 - 3
1-55509561-G-A c.253G>A p.Glu85Lys Missense 2/12 - 1
1-55509567-C-A c.259C>A p.His87Asn Missense 2/12 - 1
1-55509582-G-A c.274G>A p.Glu92Lys Missense 2/12 - 1
1-55509582-G-T c.274G>T p.Glu92* Nonsense 2/12 - 1
1-55509585-CG-GC c.277_278delinsGC p.Arg93Ala Missense 2/12 - 1
1-55509585-C-T c.277C>T p.Arg93Cys Missense 2/12 - 13
1-55509592-CC-AG c.284_285delinsAG p.Ala95Glu Missense 2/12 - 1
1-55509593-C-A c.285C>A p.Ala95Ala Synonymous 2/12 - 1
1-55509594-C-T c.286C>T p.Arg96Cys Missense 2/12 - 2
1-55509598-CGCC-C c.290_292del p.Arg97del InFrameDeletion 2/12 - 2
1-55509601-TG-AT c.293_294delinsAT p.Leu98His Missense 2/12 - 1
1-55509613-C-T c.305C>T p.Ala102Val Missense 2/12 - 1
1-55509616-C-A c.308C>A p.Ala103Asp Missense 2/12 - 1
1-55509618-C-T c.310C>T p.Arg104Cys Missense 2/12 - 7
1-55509619-G-A c.311G>A p.Arg104His Missense 2/12 - 1
1-55509622-G-A c.314G>A p.Arg105Gln Missense 2/12 - 1
1-55509624-G-A c.316G>A p.Gly106Arg Missense 2/12 - 6
1-55509624-G-C c.316G>C p.Gly106Arg Missense 2/12 - 6
1-55509631-T-G c.323T>G p.Leu108Arg Missense 2/12 - 6
1-55509642-C-T c.334C>T p.Leu112Leu Synonymous 2/12 - 1
1-55509644-G-A c.336G>A p.Leu112Leu Synonymous 2/12 - 1
1-55509644-G-C c.336G>C p.Leu112Leu Synonymous 2/12 - 1
1-55509644-G-T c.336G>T p.Leu112Leu Synonymous 2/12 - 1
1-55509649-T-C c.341T>C p.Val114Ala Missense 2/12 - 1
1-55509660-C-T c.352C>T p.Leu118Phe Missense 2/12 - 1
1-55509684-AT-GC c.376_377delinsGC p.Met126Ala Missense 2/12 - 1
1-55509687-AG-TT c.379_380delinsTT p.Ser127Phe Missense 2/12 - 1
1-55509688-GT-AG c.380_381delinsAG p.Ser127Lys Missense 2/12 - 1
1-55509689-T-A c.381T>A p.Ser127Arg Missense 2/12 - 57
1-55509692-C-A c.384C>A p.Gly128Gly Synonymous 2/12 - 1
1-55509692-C-G c.384C>G p.Gly128Gly Synonymous 2/12 - 1
1-55509692-C-T c.384C>T p.Gly128Gly Synonymous 2/12 - 1
1-55509693-G-A c.385G>A p.Asp129Asn Missense 2/12 - 3
1-55509694-A-G c.386A>G p.Asp129Gly Missense 2/12 - 8
1-55509872-T-C c.399+165T>C - IntronicSNV - 2/11 5
1-55509900-C-T c.399+193C>T - IntronicSNV - 2/11 1
1-55511471-C-T c.400-725C>T - IntronicSNV - 2/11 1
1-55511627-CC-CCCC c.400-569_400-568dup - IntronicInsertion - 2/11 1
1-55511628-C-CC c.400-568dup - IntronicInsertion - 2/11 1
1-55511995-A-G c.400-201A>G - IntronicSNV - 2/11 1
1-55512205-TT-GA c.409_410delinsGA p.Leu137Glu Missense 3/12 - 1
1-55512208-CC-TA c.412_413delinsTA p.Pro138Tyr Missense 3/12 - 1
1-55512222-C-G c.426C>G p.Tyr142* Nonsense 3/12 - 66
1-55512222-C-T c.426C>T p.Tyr142Tyr Synonymous 3/12 - 2
1-55512223-AT-CC c.427_428delinsCC p.Ile143Pro Missense 3/12 - 1
1-55512236-C-G c.440C>G p.Ser147Cys Missense 3/12 - 1
1-55512238-T-G c.442T>G p.Ser148Ala Missense 3/12 - 1
1-55512240-T-G c.444T>G p.Ser148Ser Synonymous 3/12 - 1
1-55512242-T-C c.446T>C p.Val149Ala Missense 3/12 - 1
1-55512244-TT-GC c.448_449delinsGC p.Phe150Ala Missense 3/12 - 1
1-55512245-TTT-T c.449_450del p.Phe150Cysfs*20 Frameshift 3/12 - 1
1-55512247-G-C c.451G>C p.Ala151Pro Missense 3/12 - 1
1-55512250-C-A c.454C>A p.Gln152Lys Missense 3/12 - 1
1-55512250-CA-AC c.454_455delinsAC p.Gln152Thr Missense 3/12 - 1
1-55512250-CA-AT c.454_455delinsAT p.Gln152Met Missense 3/12 - 2
1-55512250-CAG-AAC c.454_456delinsAAC p.Gln152Asn Missense 3/12 - 2
1-55512250-CAG-ATC c.454_456delinsATC p.Gln152Ile Missense 3/12 - 2
1-55512250-CA-GC c.454_455delinsGC p.Gln152Ala Missense 3/12 - 2
1-55512250-CA-GG c.454_455delinsGG p.Gln152Gly Missense 3/12 - 1
1-55512250-CAG-GAC c.454_456delinsGAC p.Gln152Asp Missense 3/12 - 2
1-55512250-CA-GT c.454_455delinsGT p.Gln152Val Missense 3/12 - 2
1-55512250-CAG-TAT c.454_456delinsTAT p.Gln152Tyr Missense 3/12 - 1
1-55512250-CAG-TTT c.454_456delinsTTT p.Gln152Phe Missense 3/12 - 1
1-55512250-CA-TC c.454_455delinsTC p.Gln152Ser Missense 3/12 - 2
1-55512250-CA-TG c.454_455inv p.Gln152Trp Missense 3/12 - 2
1-55512250-C-G c.454C>G p.Gln152Glu Missense 3/12 - 1
1-55512250-C-T c.454C>T p.Gln152* Nonsense 3/12 - 2
1-55512251-A-C c.455A>C p.Gln152Pro Missense 3/12 - 1
1-55512251-A-G c.455A>G p.Gln152Arg Missense 3/12 - 2
1-55512251-A-T c.455A>T p.Gln152Leu Missense 3/12 - 1
1-55512252-G-C c.456G>C p.Gln152His Missense 3/12 - 16
1-55512252-G-T c.456G>T p.Gln152His Missense 3/12 - 16
1-55512253-AGC-CAA c.457_459delinsCAA p.Ser153Gln Missense 3/12 - 1
1-55512253-AG-GC c.457_458delinsGC p.Ser153Ala Missense 3/12 - 1
1-55512259-C-G c.463C>G p.Pro155Ala Missense 3/12 - 2
1-55512260-C-T c.464C>T p.Pro155Leu Missense 3/12 - 1
1-55512266-A-G c.470A>G p.Asn157Ser Missense 3/12 - 1
1-55512267-C-A c.471C>A p.Asn157Lys Missense 3/12 - 7
1-55512268-CT-GC c.472_473delinsGC p.Leu158Ala Missense 3/12 - 1
1-55512299-C-A c.503C>A p.Ala168Glu Missense 3/12 - 1
1-55512313-C-T c.517C>T p.Pro173Ser Missense 3/12 - 1
1-55512316-C-T c.520C>T p.Pro174Ser Missense 3/12 - 1
1-55512549-T-A c.523+230T>A - IntronicSNV - 3/11 5
1-55512549-T-C c.523+230T>C - IntronicSNV - 3/11 5
1-55512995-G-A c.523+676G>A - IntronicSNV - 3/11 2
1-55513061-T-C c.523+742T>C - IntronicSNV - 3/11 6
1-55513521-C-A c.523+1202C>A - IntronicSNV - 3/11 3
1-55513521-C-G c.523+1202C>G - IntronicSNV - 3/11 3
1-55514073-C-G c.523+1754C>G - IntronicSNV - 3/11 1
1-55514956-G-A c.523+2637G>A - IntronicSNV - 3/11 2
1-55515234-C-A c.524-2717C>A - IntronicSNV - 3/11 1
1-55516004-C-A c.524-1947C>A - IntronicSNV - 3/11 4
1-55517344-C-G c.524-607C>G - IntronicSNV - 3/11 4
1-55517344-C-T c.524-607C>T - IntronicSNV - 3/11 4
1-55517861-C-G c.524-90C>G - IntronicSNV - 3/11 1
1-55517883-C-G c.524-68C>G - IntronicSNV - 3/11 1
1-55517940-G-A c.524-11G>A - IntronicSNV - 3/11 1
1-55517940-G-T c.524-11G>T - IntronicSNV - 3/11 1
1-55517952-C-T c.525C>T p.Asp175Asp Synonymous 4/12 - 1
1-55517966-TG-AC c.539_540delinsAC p.Val180Asp Missense 4/12 - 1
1-55517984-A-G c.557A>G p.Asp186Gly Missense 4/12 - 1
1-55517996-A-G c.569A>G p.Gln190Arg Missense 4/12 - 1
1-55518007-CG-GC c.580_581delinsGC p.Arg194Ala Missense 4/12 - 3
1-55518007-C-T c.580C>T p.Arg194Trp Missense 4/12 - 1
1-55518037-G-A c.610G>A p.Asp204Asn Missense 4/12 - 2
1-55518043-G-A c.616G>A p.Glu206Lys Missense 4/12 - 1
1-55518070-CG-GC c.643_644delinsGC p.Arg215Ala Missense 4/12 - 3
1-55518070-C-T c.643C>T p.Arg215Cys Missense 4/12 - 1
1-55518071-G-A c.644G>A p.Arg215His Missense 4/12 - 7
1-55518073-T-C c.646T>C p.Phe216Leu Missense 4/12 - 31
1-55518073-TT-CG c.646_647delinsCG p.Phe216Arg Missense 4/12 - 1
1-55518076-CA-GC c.649_650delinsGC p.His217Ala Missense 4/12 - 1
1-55518077-A-G c.650A>G p.His217Arg Missense 4/12 - 1
1-55518079-AGA-CAT c.652_654delinsCAT p.Arg218His Missense 4/12 - 1
1-55518079-AG-GC c.652_653delinsGC p.Arg218Ala Missense 4/12 - 2
1-55518081-A-C c.654A>C p.Arg218Ser Missense 4/12 - 19
1-55518081-A-T c.654A>T p.Arg218Ser Missense 4/12 - 19
1-55518082-C-G c.655C>G p.Gln219Glu Missense 4/12 - 1
1-55518093-G-A c.657+9G>A - IntronicSNV - 4/11 3
1-55518160-C-A c.657+76C>A - IntronicSNV - 4/11 2
1-55518160-C-G c.657+76C>G - IntronicSNV - 4/11 2
1-55518166-G-A c.657+82G>A - IntronicSNV - 4/11 1
1-55518166-G-C c.657+82G>C - IntronicSNV - 4/11 1
1-55518166-G-T c.657+82G>T - IntronicSNV - 4/11 1
1-55518316-C-T c.658-7C>T - IntronicSNV - 4/11 6
1-55518341-CA-GC c.676_677delinsGC p.His226Ala Missense 5/12 - 7
1-55518351-A-G c.686A>G p.His229Arg Missense 5/12 - 1
1-55518370-C-T c.705C>T p.Ser235Ser Synonymous 5/12 - 1
1-55518371-G-A c.706G>A p.Gly236Ser Missense 5/12 - 5
1-55518374-C-T c.709C>T p.Arg237Trp Missense 5/12 - 9
1-55518375-GG-AT c.710_711delinsAT p.Arg237His Missense 5/12 - 1
1-55518378-A-C c.713A>C p.Asp238Ala Missense 5/12 - 1
1-55518381-C-A c.716C>A p.Ala239Asp Missense 5/12 - 1
1-55518386-G-A c.721G>A p.Val241Met Missense 5/12 - 1
1-55518398-G-A c.733G>A p.Ala245Thr Missense 5/12 - 1
1-55518407-CG-GC c.742_743delinsGC p.Arg248Ala Missense 5/12 - 1
1-55518416-CG-GC c.751_752delinsGC p.Arg251Ala Missense 5/12 - 1
1-55518418-C-T c.753C>T p.Arg251Arg Synonymous 5/12 - 1
1-55518419-G-A c.754G>A p.Val252Met Missense 5/12 - 1
1-55518419-G-C c.754G>C p.Val252Leu Missense 5/12 - 1
1-55518422-C-T c.757C>T p.Leu253Phe Missense 5/12 - 13
1-55518422-CTC-GAG c.757_759inv p.Leu253Glu Missense 5/12 - 1
1-55518467-A-G c.799+3A>G - IntronicSNV - 5/11 5
1-55518622-T-C c.799+158T>C - IntronicSNV - 5/11 2
1-55518682-C-T c.799+218C>T - IntronicSNV - 5/11 2
1-55518752-C-T c.799+288C>T - IntronicSNV - 5/11 12
1-55519014-C-T c.799+550C>T - IntronicSNV - 5/11 1
1-55519015-G-A c.799+551G>A - IntronicSNV - 5/11 3
1-55519015-G-T c.799+551G>T - IntronicSNV - 5/11 3
1-55519174-G-A c.799+710G>A - IntronicSNV - 5/11 3
1-55519174-G-C c.799+710G>C - IntronicSNV - 5/11 3
1-55519238-C-T c.799+774C>T - IntronicSNV - 5/11 1
1-55520212-G-A c.800-1454G>A - IntronicSNV - 5/11 1
1-55520265-T-C c.800-1401T>C - IntronicSNV - 5/11 1
1-55520864-A-G c.800-802A>G - IntronicSNV - 5/11 2
1-55521109-G-A c.800-557G>A - IntronicSNV - 5/11 2
1-55521109-G-C c.800-557G>C - IntronicSNV - 5/11 2
1-55521242-T-A c.800-424T>A - IntronicSNV - 5/11 1
1-55521242-T-G c.800-424T>G - IntronicSNV - 5/11 1
1-55521701-C-A c.835C>A p.Pro279Thr Missense 6/12 - 2
1-55521701-C-G c.835C>G p.Pro279Ala Missense 6/12 - 1
1-55521713-C-A c.847C>A p.Leu283Met Missense 6/12 - 1
1-55521758-AA-GC c.892_893delinsGC p.Asn298Ala Missense 6/12 - 1
1-55521767-TG-AC c.901_902delinsAC p.Cys301Thr Missense 6/12 - 1
1-55521770-C-T c.904C>T p.Gln302* Nonsense 6/12 - 1
1-55521784-G-C c.918G>C p.Arg306Ser Missense 6/12 - 2
1-55521784-G-T c.918G>T p.Arg306Ser Missense 6/12 - 2
1-55521788-G-A c.922G>A p.Gly308Arg Missense 6/12 - 1
1-55521788-G-C c.922G>C p.Gly308Arg Missense 6/12 - 1
1-55521800-G-T c.934G>T p.Val312Phe Missense 6/12 - 2
1-55521800-GT-AG c.934_935delinsAG p.Val312Ser Missense 6/12 - 2
1-55521821-CG-GA c.955_956delinsGA p.Arg319Glu Missense 6/12 - 2
1-55521824-G-A c.958G>A p.Asp320Asn Missense 6/12 - 2
1-55521855-C-T c.989C>T p.Ala330Val Missense 6/12 - 1
1-55521857-C-G c.991C>G p.Pro331Ala Missense 6/12 - 1
1-55521861-A-G c.995A>G p.Glu332Gly Missense 6/12 - 1
1-55522141-A-C c.996+279A>C - IntronicSNV - 6/11 1
1-55522141-A-G c.996+279A>G - IntronicSNV - 6/11 1
1-55522425-G-A c.996+563G>A - IntronicSNV - 6/11 1
1-55523034-G-C c.1027G>C p.Asp343His Missense 7/12 - 1
1-55523035-A-C c.1028A>C p.Asp343Ala Missense 7/12 - 1
1-55523037-C-A c.1030C>A p.Gln344Lys Missense 7/12 - 1
1-55523042-G-A c.1035G>A p.Pro345Pro Synonymous 7/12 - 1
1-55523042-G-C c.1035G>C p.Pro345Pro Synonymous 7/12 - 1
1-55523042-G-T c.1035G>T p.Pro345Pro Synonymous 7/12 - 1
1-55523068-A-T c.1061A>T p.Asn354Ile Missense 7/12 - 3
1-55523076-C-T c.1069C>T p.Arg357Cys Missense 7/12 - 2
1-55523077-G-A c.1070G>A p.Arg357His Missense 7/12 - 4
1-55523080-G-A c.1073G>A p.Cys358Tyr Missense 7/12 - 1
1-55523097-CCC-C c.1090_1091del p.Pro364Argfs*62 Frameshift 7/12 - 1
1-55523100-G-A c.1093G>A p.Gly365Arg Missense 7/12 - 1
1-55523100-G-C c.1093G>C p.Gly365Arg Missense 7/12 - 1
1-55523107-A-C c.1100A>C p.Asp367Ala Missense 7/12 - 1
1-55523112-AT-GC c.1105_1106delinsGC p.Ile369Ala Missense 7/12 - 1
1-55523121-T-G c.1114T>G p.Ser372Ala Missense 7/12 - 1
1-55523127-G-A c.1120G>A p.Asp374Asn Missense 7/12 - 1
1-55523127-G-C c.1120G>C p.Asp374His Missense 7/12 - 4
1-55523127-G-T c.1120G>T p.Asp374Tyr Missense 7/12 - 127
1-55523128-A-C c.1121A>C p.Asp374Ala Missense 7/12 - 2
1-55523128-A-G c.1121A>G p.Asp374Gly Missense 7/12 - 1
1-55523133-A-G c.1126A>G p.Ser376Gly Missense 7/12 - 1
1-55523142-TT-GC c.1135_1136delinsGC p.Phe379Ala Missense 7/12 - 5
1-55523146-T-C c.1139T>C p.Val380Ala Missense 7/12 - 1
1-55523148-T-G c.1141T>G p.Ser381Ala Missense 7/12 - 1
1-55523151-CA-GC c.1144_1145delinsGC p.Gln382Ala Missense 7/12 - 1
1-55523154-AG-GC c.1147_1148delinsGC p.Ser383Ala Missense 7/12 - 1
1-55523163-T-G c.1156T>G p.Ser386Ala Missense 7/12 - 12
1-55523166-C-T c.1159C>T p.Gln387* Nonsense 7/12 - 1
1-55523178-C-A c.1171C>A p.His391Asn Missense 7/12 - 5
1-55523187-G-A c.1180G>A p.Gly394Ser Missense 7/12 - 1
1-55523361-A-G c.1180+174A>G - IntronicSNV - 7/11 3
1-55523483-C-A c.1181-226C>A - IntronicSNV - 7/11 1
1-55523483-C-G c.1181-226C>G - IntronicSNV - 7/11 1
1-55523483-C-T c.1181-226C>T - IntronicSNV - 7/11 1
1-55523779-C-A c.1251C>A p.His417Gln Missense 8/12 - 5
1-55523802-A-G c.1274A>G p.Asn425Ser Missense 8/12 - 12
1-55523811-G-A c.1283G>A p.Trp428* Nonsense 8/12 - 1
1-55523812-G-A c.1284G>A p.Trp428* Nonsense 8/12 - 1
1-55523822-G-A c.1294G>A p.Asp432Asn Missense 8/12 - 1
1-55523828-C-T c.1300C>T p.Arg434Trp Missense 8/12 - 8
1-55523855-G-A c.1327G>A p.Ala443Thr Missense 8/12 - 22
1-55523855-G-C c.1327G>C p.Ala443Pro Missense 8/12 - 1
1-55523865-C-T c.1337C>T p.Pro446Leu Missense 8/12 - 9
1-55523867-AGC-TGA c.1339_1341delinsTGA p.Ser447* Nonsense 8/12 - 16
1-55523984-C-T c.1354+102C>T - IntronicSNV - 8/11 1
1-55524116-C-A c.1355-56C>A - IntronicSNV - 8/11 4
1-55524116-C-G c.1355-56C>G - IntronicSNV - 8/11 4
1-55524116-C-T c.1355-56C>T - IntronicSNV - 8/11 4
1-55524172-G-A c.1355G>A p.Gly452Asp Missense 9/12 - 1
1-55524180-CT-TA c.1363_1364delinsTA p.Leu455* Nonsense 9/12 - 4
1-55524192-A-G c.1375A>G p.Thr459Ala Missense 9/12 - 1
1-55524197-A-C c.1380A>C p.Val460Val Synonymous 9/12 - 8
1-55524197-A-G c.1380A>G p.Val460Val Synonymous 9/12 - 8
1-55524198-TG-GC c.1381_1382delinsGC p.Trp461Ala Missense 9/12 - 1
1-55524201-T-C c.1384T>C p.Ser462Pro Missense 9/12 - 4
1-55524208-A-G c.1391A>G p.His464Arg Missense 9/12 - 1
1-55524211-C-T c.1394C>T p.Ser465Leu Missense 9/12 - 3
1-55524214-G-A c.1397G>A p.Gly466Glu Missense 9/12 - 2
1-55524222-C-T c.1405C>T p.Arg469Trp Missense 9/12 - 14
1-55524237-G-A c.1420G>A p.Val474Ile Missense 9/12 - 31
1-55524244-G-A c.1427G>A p.Arg476His Missense 9/12 - 1
1-55524255-G-A c.1438G>A p.Asp480Asn Missense 9/12 - 1
1-55524256-A-G c.1439A>G p.Asp480Gly Missense 9/12 - 1
1-55524259-A-C c.1442A>C p.Glu481Ala Missense 9/12 - 1
1-55524261-GA-AG c.1444_1445delinsAG p.Glu482Arg Missense 9/12 - 1
1-55524261-G-C c.1444G>C p.Glu482Gln Missense 9/12 - 1
1-55524262-A-G c.1445A>G p.Glu482Gly Missense 9/12 - 4
1-55524303-C-T c.1486C>T p.Arg496Trp Missense 9/12 - 12
1-55524309-G-A c.1492G>A p.Glu498Lys Missense 9/12 - 3
1-55524312-C-T c.1495C>T p.Arg499Cys Missense 9/12 - 2
1-55524313-G-T c.1496G>T p.Arg499Leu Missense 9/12 - 1
1-55524601-G-A c.1503+281G>A - IntronicSNV - 9/11 2
1-55524601-G-C c.1503+281G>C - IntronicSNV - 9/11 2
1-55524842-G-A c.1504-317G>A - IntronicSNV - 9/11 3
1-55525143-C-T c.1504-16C>T - IntronicSNV - 9/11 1
1-55525195-G-A c.1540G>A p.Ala514Thr Missense 10/12 - 3
1-55525198-TT-GC c.1543_1544delinsGC p.Phe515Ala Missense 10/12 - 1
1-55525200-T-G c.1545T>G p.Phe515Leu Missense 10/12 - 5
1-55525202-G-T c.1547G>T p.Gly516Val Missense 10/12 - 1
1-55525219-G-A c.1564G>A p.Ala522Thr Missense 10/12 - 3
1-55525229-G-C c.1574G>C p.Arg525Thr Missense 10/12 - 1
1-55525252-AA-GC c.1597_1598delinsGC p.Asn533Ala Missense 10/12 - 2
1-55525264-CA-GC c.1609_1610delinsGC p.His537Ala Missense 10/12 - 1
1-55525300-CG-GC c.1645_1646delinsGC p.Arg549Ala Missense 10/12 - 1
1-55525306-CA-GC c.1651_1652delinsGC p.His551Ala Missense 10/12 - 1
1-55525312-CA-GC c.1657_1658delinsGC p.His553Ala Missense 10/12 - 1
1-55525313-A-G c.1658A>G p.His553Arg Missense 10/12 - 14
1-55525315-C-A c.1660C>A p.Gln554Lys Missense 10/12 - 3
1-55525315-C-G c.1660C>G p.Gln554Glu Missense 10/12 - 9
1-55525324-CA-GC c.1669_1670delinsGC p.His557Ala Missense 10/12 - 1
1-55525400-G-A c.1681+64G>A - IntronicSNV - 10/11 4
1-55525868-C-T c.1681+532C>T - IntronicSNV - 10/11 1
1-55526296-A-C c.1682-752A>C - IntronicSNV - 10/11 4
1-55526296-A-G c.1682-752A>G - IntronicSNV - 10/11 4
1-55526428-T-C c.1682-620T>C - IntronicSNV - 10/11 3
1-55526428-T-G c.1682-620T>G - IntronicSNV - 10/11 3
1-55526685-G-A c.1682-363G>A - IntronicSNV - 10/11 1
1-55527086-CA-GC c.1720_1721delinsGC p.His574Ala Missense 11/12 - 1
1-55527093-C-T c.1727C>T p.Pro576Leu Missense 11/12 - 1
1-55527099-T-C c.1733T>C p.Val578Ala Missense 11/12 - 1
1-55527104-AG-GC c.1738_1739delinsGC p.Arg580Ala Missense 11/12 - 1
1-55527110-C-T c.1744C>T p.Arg582* Nonsense 11/12 - 1
1-55527158-G-A c.1792G>A p.Ala598Thr Missense 11/12 - 1
1-55527170-CA-GC c.1804_1805delinsGC p.His602Ala Missense 11/12 - 1
1-55527186-A-G c.1820A>G p.Glu607Gly Missense 11/12 - 1
1-55527216-C-A c.1850C>A p.Ala617Asp Missense 11/12 - 2
1-55527217-C-G c.1851C>G p.Ala617Ala Synonymous 11/12 - 1
1-55527217-C-T c.1851C>T p.Ala617Ala Synonymous 11/12 - 1
1-55527221-C-T c.1855C>T p.Gln619* Nonsense 11/12 - 1
1-55527222-A-C c.1856A>C p.Gln619Pro Missense 11/12 - 5
1-55527222-A-T c.1856A>T p.Gln619Leu Missense 11/12 - 1
1-55527323-G-A c.1863+94G>A - IntronicSNV - 11/11 2
1-55527335-C-T c.1863+106C>T - IntronicSNV - 11/11 1
1-55527479-A-G c.1863+250A>G - IntronicSNV - 11/11 3
1-55527918-C-T c.1863+689C>T - IntronicSNV - 11/11 1
1-55528629-G-A c.1864-413G>A - IntronicSNV - 11/11 7
1-55528807-G-C c.1864-235G>C - IntronicSNV - 11/11 2
1-55529042-G-A c.1864G>A p.Val622Met Missense 12/12 - 1
1-55529048-G-A c.1870G>A p.Val624Met Missense 12/12 - 2
1-55529084-A-C c.1906A>C p.Ser636Arg Missense 12/12 - 1
1-55529106-A-G c.1928A>G p.His643Arg Missense 12/12 - 1
1-55529132-A-G c.1954A>G p.Asn652Asp Missense 12/12 - 1
1-55529153-C-G c.1975C>G p.Arg659Gly Missense 12/12 - 1
1-55529153-C-T c.1975C>T p.Arg659Trp Missense 12/12 - 1
1-55529156-G-C c.1978G>C p.Asp660His Missense 12/12 - 1
1-55529169-C-T c.1991C>T p.Thr664Ile Missense 12/12 - 1
1-55529180-A-C c.2002A>C p.Ser668Arg Missense 12/12 - 2
1-55529182-C-A c.2004C>A p.Ser668Arg Missense 12/12 - 2
1-55529182-C-G c.2004C>G p.Ser668Arg Missense 12/12 - 2
1-55529187-G-A c.2009G>A p.Gly670Glu Missense 12/12 - 51
1-55529211-G-A c.2033G>A p.Cys678Tyr Missense 12/12 - 2
1-55529212-C-A c.2034C>A p.Cys678* Nonsense 12/12 - 1
1-55529215-C-A c.2037C>A p.Cys679* Nonsense 12/12 - 70
1-55529215-C-T c.2037C>T p.Cys679Cys Synonymous 12/12 - 4
1-55529216-CG-GC c.2038_2039delinsGC p.Arg680Ala Missense 12/12 - 1
1-55529226-A-AA c.2048dup p.His683Glnfs*28 Frameshift 12/12 - 1
1-55529232-C-T c.2054C>T p.Ala685Val Missense 12/12 - 1
1-55529701-G-C c.*444G>C - 3-UTRSNV 12/12 - 1
1-55529701-G-T c.*444G>T - 3-UTRSNV 12/12 - 1
1-55529828-C-T c.*571C>T - 3-UTRSNV 12/12 - 4
1-55529871-C-G c.*614C>G - 3-UTRSNV 12/12 - 3
1-55529871-C-T c.*614C>T - 3-UTRSNV 12/12 - 3