PCSK9 proprotein convertase subtilisin/kexin type 9

Annotation transcript: NM_174936.4

569 unique variant annotations were identified in 775 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-55039774-C-T c.-64C>T - 5-UTRSNV 1/12 - 2
1-55039847-G-A c.10G>A p.V4I Missense 1/12 - 8
1-55039871-CCG-TTT c.34_36delinsTTT p.P12F Missense 1/12 - 1
1-55039871-C-G c.34C>G p.P12A Missense 1/12 - 4
1-55039874-CT-GC c.37_38delinsGC p.L13A Missense 1/12 - 1
1-55039879-A-AATGCTG c.42_43insATGCTG p.P14_L15insML InFrameInsertion 1/12 - 1
1-55039879-A-ATG c.42_43insTG p.L15Cfs*30 Frameshift 1/12 - 2
1-55039880-C-CCTG c.43_44insCTG p.L15delinsPV MultiAAMissense 1/12 - 2
1-55039880-CTG-ATC c.43_45delinsATC p.L15I Missense 1/12 - 1
1-55039892-CT-GA c.55_56delinsGA p.L19E Missense 1/12 - 1
1-55039898-C-CCTG c.61_62insCTG p.L21delinsPV MultiAAMissense 1/12 - 2
1-55039898-CTG-TGT c.61_63delinsTGT p.L21C Missense 1/12 - 1
1-55039904-C-T c.67C>T p.L23= Synonymous 1/12 - 1
1-55039906-G-GCTT c.69_70insCTT p.L23dup InFrameInsertion 1/12 - 1
1-55039912-C-T c.75C>T p.P25= Synonymous 1/12 - 1
1-55039917-G-C c.80G>C p.G27A Missense 1/12 - 1
1-55039922-C-G c.85C>G p.R29G Missense 1/12 - 1
1-55039925-GCG-TTT c.88_90delinsTTT p.A30F Missense 1/12 - 1
1-55039928-CAG-AAC c.91_93delinsAAC p.Q31N Missense 1/12 - 1
1-55039931-G-A c.94G>A p.E32K Missense 1/12 - 38
1-55039937-G-A c.100G>A p.E34K Missense 1/12 - 2
1-55039940-GA-TG c.103_104delinsTG p.D35C Missense 1/12 - 1
1-55039940-G-T c.103G>T p.D35Y Missense 1/12 - 4
1-55039946-G-T c.109G>T p.D37Y Missense 1/12 - 1
1-55039949-TAC-AAG c.112_114delinsAAG p.Y38K Missense 1/12 - 1
1-55039949-TA-CG c.112_113delinsCG p.Y38R Missense 1/12 - 1
1-55039949-TAC-GAG c.112_114delinsGAG p.Y38E Missense 1/12 - 1
1-55039949-TA-CT c.112_113delinsCT p.Y38L Missense 1/12 - 1
1-55039949-TA-GC c.112_113delinsGC p.Y38A Missense 1/12 - 1
1-55039950-A-T c.113A>T p.Y38F Missense 1/12 - 1
1-55039955-G-A c.118G>A p.E40K Missense 1/12 - 1
1-55039955-GA-CT c.118_119delinsCT p.E40L Missense 1/12 - 1
1-55039959-T-A c.122T>A p.L41Q Missense 1/12 - 2
1-55039959-T-C c.122T>C p.L41P Missense 1/12 - 1
1-55039961-G-T c.124G>T p.V42L Missense 1/12 - 1
1-55039967-G-C c.130G>C p.A44P Missense 1/12 - 1
1-55039973-C-T c.136C>T p.R46C Missense 1/12 - 1
1-55039974-G-A c.137G>A p.R46H Missense 1/12 - 87
1-55039974-G-T c.137G>T p.R46L Missense 1/12 - 279
1-55039976-TC-GA c.139_140inv p.S47D Missense 1/12 - 1
1-55039976-T-G c.139T>G p.S47A Missense 1/12 - 1
1-55039978-C-T c.141C>T p.S47= Synonymous 1/12 - 2
1-55039979-CG-C c.142del p.E48Rfs*35 Frameshift 1/12 - 1
1-55039979-G-A c.142G>A p.E48K Missense 1/12 - 1
1-55039979-GAG-TGT c.142_144delinsTGT p.E48C Missense 1/12 - 1
1-55039986-A-G c.149A>G p.D50G Missense 1/12 - 1
1-55039988-G-C c.151G>C p.G51R Missense 1/12 - 1
1-55039992-TG-AT c.155_156delinsAT p.L52H Missense 1/12 - 1
1-55039995-C-G c.158C>G p.A53G Missense 1/12 - 23
1-55039995-C-T c.158C>T p.A53V Missense 1/12 - 44
1-55039996-C-A c.159C>A p.A53= Synonymous 1/12 - 1
1-55039996-C-G c.159C>G p.A53= Synonymous 1/12 - 1
1-55039996-C-T c.159C>T p.A53= Synonymous 1/12 - 1
1-55039998-A-C c.161A>C p.E54A Missense 1/12 - 1
1-55040002-A-C c.165A>C p.A55= Synonymous 1/12 - 1
1-55040002-A-G c.165A>G p.A55= Synonymous 1/12 - 1
1-55040002-A-T c.165A>T p.A55= Synonymous 1/12 - 1
1-55040006-G-A c.169G>A p.E57K Missense 1/12 - 6
1-55040029-C-T c.192C>T p.F64= Synonymous 1/12 - 1
1-55040036-TG-GC c.199_200delinsGC p.C67A Missense 1/12 - 1
1-55040039-CG-C c.202del p.A68Pfs*15 Frameshift 1/12 - 5
1-55040040-CC-AG c.203_204delinsAG p.A68E Missense 1/12 - 1
1-55040059-A-G c.207+15A>G - IntronicSNV - 1/11 2
1-55040188-G-A c.207+144G>A - IntronicSNV - 1/11 1
1-55040253-C-T c.207+209C>T - IntronicSNV - 1/11 1
1-55041612-T-C c.207+1568T>C - IntronicSNV - 1/11 1
1-55041641-G-A c.207+1597G>A - IntronicSNV - 1/11 1
1-55041976-C-T c.208-1867C>T - IntronicSNV - 1/11 2
1-55042283-G-A c.208-1560G>A - IntronicSNV - 1/11 1
1-55043540-G-A c.208-303G>A - IntronicSNV - 1/11 7
1-55043540-G-C c.208-303G>C - IntronicSNV - 1/11 7
1-55043843-G-A c.208G>A p.D70N Missense 2/12 - 1
1-55043843-GA-CC c.208_209delinsCC p.D70P Missense 2/12 - 1
1-55043849-T-G c.214T>G p.W72G Missense 2/12 - 1
1-55043863-C-T c.228C>T p.G76= Synonymous 2/12 - 1
1-55043865-C-T c.230C>T p.T77I Missense 2/12 - 1
1-55043867-TA-GC c.232_233delinsGC p.Y78A Missense 2/12 - 1
1-55043871-T-C c.236T>C p.V79A Missense 2/12 - 1
1-55043874-T-C c.239T>C p.V80A Missense 2/12 - 1
1-55043879-CT-GC c.244_245delinsGC p.L82A Missense 2/12 - 1
1-55043879-CT-TA c.244_245delinsTA p.L82* Nonsense 2/12 - 4
1-55043888-G-A c.253G>A p.E85K Missense 2/12 - 1
1-55043894-C-A c.259C>A p.H87N Missense 2/12 - 1
1-55043899-C-A c.264C>A p.L88= Synonymous 2/12 - 1
1-55043899-C-G c.264C>G p.L88= Synonymous 2/12 - 1
1-55043899-C-T c.264C>T p.L88= Synonymous 2/12 - 1
1-55043903-C-T c.268C>T p.Q90* Nonsense 2/12 - 1
1-55043906-T-A c.271T>A p.S91T Missense 2/12 - 1
1-55043907-C-T c.272C>T p.S91L Missense 2/12 - 1
1-55043909-G-A c.274G>A p.E92K Missense 2/12 - 1
1-55043909-G-T c.274G>T p.E92* Nonsense 2/12 - 1
1-55043912-CG-GC c.277_278delinsGC p.R93A Missense 2/12 - 2
1-55043912-C-T c.277C>T p.R93C Missense 2/12 - 20
1-55043915-AC-CA c.280_281delinsCA p.T94H Missense 2/12 - 1
1-55043918-GC-TG c.283_284delinsTG p.A95C Missense 2/12 - 1
1-55043919-CC-AG c.284_285delinsAG p.A95E Missense 2/12 - 1
1-55043920-C-A c.285C>A p.A95= Synonymous 2/12 - 1
1-55043921-C-T c.286C>T p.R96C Missense 2/12 - 9
1-55043922-G-A c.287G>A p.R96H Missense 2/12 - 1
1-55043922-G-T c.287G>T p.R96L Missense 2/12 - 3
1-55043919-CCCG-C c.290_292del p.R97del InFrameDeletion 2/12 - 4
1-55043928-TG-AT c.293_294delinsAT p.L98H Missense 2/12 - 1
1-55043940-C-T c.305C>T p.A102V Missense 2/12 - 1
1-55043943-C-A c.308C>A p.A103D Missense 2/12 - 1
1-55043945-C-T c.310C>T p.R104C Missense 2/12 - 14
1-55043946-G-A c.311G>A p.R104H Missense 2/12 - 1
1-55043948-C-T c.313C>T p.R105W Missense 2/12 - 2
1-55043949-G-A c.314G>A p.R105Q Missense 2/12 - 3
1-55043951-G-A c.316G>A p.G106R Missense 2/12 - 11
1-55043951-G-C c.316G>C p.G106R Missense 2/12 - 10
1-55043952-G-A c.317G>A p.G106E Missense 2/12 - 1
1-55043958-T-G c.323T>G p.L108R Missense 2/12 - 14
1-55043963-A-C c.328A>C p.K110Q Missense 2/12 - 1
1-55043969-C-T c.334C>T p.L112= Synonymous 2/12 - 1
1-55043971-G-A c.336G>A p.L112= Synonymous 2/12 - 1
1-55043971-G-C c.336G>C p.L112= Synonymous 2/12 - 1
1-55043971-G-T c.336G>T p.L112= Synonymous 2/12 - 1
1-55043976-T-C c.341T>C p.V114A Missense 2/12 - 6
1-55043987-C-T c.352C>T p.L118F Missense 2/12 - 1
1-55044003-T-A c.368T>A p.L123Q Missense 2/12 - 1
1-55044011-AT-GC c.376_377delinsGC p.M126A Missense 2/12 - 1
1-55044012-T-A c.377T>A p.M126K Missense 2/12 - 1
1-55044014-AG-TT c.379_380delinsTT p.S127F Missense 2/12 - 1
1-55044015-GT-AG c.380_381delinsAG p.S127K Missense 2/12 - 1
1-55044014-A-C c.379A>C p.S127R Missense 2/12 - 21
1-55044016-T-A c.381T>A p.S127R Missense 2/12 - 73
1-55044016-T-G c.381T>G p.S127R Missense 2/12 - 21
1-55044017-G-A c.382G>A p.G128S Missense 2/12 - 1
1-55044019-C-A c.384C>A p.G128= Synonymous 2/12 - 1
1-55044019-C-G c.384C>G p.G128= Synonymous 2/12 - 1
1-55044019-C-T c.384C>T p.G128= Synonymous 2/12 - 1
1-55044020-G-A c.385G>A p.D129N Missense 2/12 - 8
1-55044021-A-G c.386A>G p.D129G Missense 2/12 - 15
1-55044098-G-A c.399+64G>A - IntronicSNV - 2/11 1
1-55044199-T-C c.399+165T>C - IntronicSNV - 2/11 6
1-55044227-C-T c.399+193C>T - IntronicSNV - 2/11 1
1-55045298-T-C c.400-1225T>C - IntronicSNV - 2/11 1
1-55045798-C-T c.400-725C>T - IntronicSNV - 2/11 2
1-55045950-T-TCC c.400-569_400-568dup - IntronicInsertion - 2/11 2
1-55045950-T-TC c.400-568dup - IntronicInsertion - 2/11 2
1-55046322-A-G c.400-201A>G - IntronicSNV - 2/11 2
1-55046532-TT-GA c.409_410delinsGA p.L137E Missense 3/12 - 1
1-55046534-G-T c.411G>T p.L137F Missense 3/12 - 1
1-55046535-CC-TA c.412_413delinsTA p.P138Y Missense 3/12 - 1
1-55046536-C-G c.413C>G p.P138R Missense 3/12 - 1
1-55046538-C-T c.415C>T p.H139Y Missense 3/12 - 1
1-55046539-A-G c.416A>G p.H139R Missense 3/12 - 1
1-55046541-G-A c.418G>A p.V140I Missense 3/12 - 1
1-55046541-G-T c.418G>T p.V140F Missense 3/12 - 1
1-55046549-C-A c.426C>A p.Y142* Nonsense 3/12 - 17
1-55046549-C-G c.426C>G p.Y142* Nonsense 3/12 - 82
1-55046549-C-T c.426C>T p.Y142= Synonymous 3/12 - 2
1-55046550-AT-CC c.427_428delinsCC p.I143P Missense 3/12 - 1
1-55046559-G-A c.436G>A p.D146N Missense 3/12 - 1
1-55046563-C-G c.440C>G p.S147C Missense 3/12 - 1
1-55046565-T-G c.442T>G p.S148A Missense 3/12 - 1
1-55046567-T-G c.444T>G p.S148= Synonymous 3/12 - 1
1-55046569-T-C c.446T>C p.V149A Missense 3/12 - 1
1-55046571-TT-GC c.448_449delinsGC p.F150A Missense 3/12 - 1
1-55046570-CTT-C c.449_450del p.F150Cfs*20 Frameshift 3/12 - 1
1-55046574-G-C c.451G>C p.A151P Missense 3/12 - 1
1-55046577-C-A c.454C>A p.Q152K Missense 3/12 - 1
1-55046577-CA-AC c.454_455delinsAC p.Q152T Missense 3/12 - 1
1-55046577-CA-AT c.454_455delinsAT p.Q152M Missense 3/12 - 2
1-55046577-CAG-AAC c.454_456delinsAAC p.Q152N Missense 3/12 - 2
1-55046577-CAG-ATC c.454_456delinsATC p.Q152I Missense 3/12 - 2
1-55046577-CA-GC c.454_455delinsGC p.Q152A Missense 3/12 - 2
1-55046577-CA-GG c.454_455delinsGG p.Q152G Missense 3/12 - 1
1-55046577-CAG-GAC c.454_456delinsGAC p.Q152D Missense 3/12 - 3
1-55046577-CA-GT c.454_455delinsGT p.Q152V Missense 3/12 - 2
1-55046577-CAG-TAT c.454_456delinsTAT p.Q152Y Missense 3/12 - 1
1-55046577-CAG-TTT c.454_456delinsTTT p.Q152F Missense 3/12 - 1
1-55046577-CA-TC c.454_455delinsTC p.Q152S Missense 3/12 - 2
1-55046577-CA-TG c.454_455inv p.Q152W Missense 3/12 - 2
1-55046577-C-G c.454C>G p.Q152E Missense 3/12 - 1
1-55046577-C-T c.454C>T p.Q152* Nonsense 3/12 - 2
1-55046578-A-C c.455A>C p.Q152P Missense 3/12 - 1
1-55046578-A-G c.455A>G p.Q152R Missense 3/12 - 2
1-55046578-A-T c.455A>T p.Q152L Missense 3/12 - 1
1-55046579-G-C c.456G>C p.Q152H Missense 3/12 - 23
1-55046579-G-T c.456G>T p.Q152H Missense 3/12 - 22
1-55046580-AGC-CAA c.457_459delinsCAA p.S153Q Missense 3/12 - 1
1-55046580-AG-GC c.457_458delinsGC p.S153A Missense 3/12 - 1
1-55046586-C-G c.463C>G p.P155A Missense 3/12 - 2
1-55046587-C-T c.464C>T p.P155L Missense 3/12 - 1
1-55046593-A-G c.470A>G p.N157S Missense 3/12 - 1
1-55046594-C-A c.471C>A p.N157K Missense 3/12 - 13
1-55046594-C-G c.471C>G p.N157K Missense 3/12 - 4
1-55046595-CT-GC c.472_473delinsGC p.L158A Missense 3/12 - 1
1-55046602-G-A c.479G>A p.R160Q Missense 3/12 - 1
1-55046626-C-A c.503C>A p.A168E Missense 3/12 - 4
1-55046637-C-G c.514C>G p.Q172E Missense 3/12 - 1
1-55046640-C-T c.517C>T p.P173S Missense 3/12 - 1
1-55046642-C-G c.519C>G p.P173= Synonymous 3/12 - 1
1-55046643-C-T c.520C>T p.P174S Missense 3/12 - 3
1-55046876-T-A c.523+230T>A - IntronicSNV - 3/11 6
1-55046876-T-C c.523+230T>C - IntronicSNV - 3/11 6
1-55047322-G-A c.523+676G>A - IntronicSNV - 3/11 2
1-55047388-T-C c.523+742T>C - IntronicSNV - 3/11 10
1-55047848-C-A c.523+1202C>A - IntronicSNV - 3/11 3
1-55047848-C-G c.523+1202C>G - IntronicSNV - 3/11 3
1-55048373-G-T c.523+1727G>T - IntronicSNV - 3/11 1
1-55048400-C-G c.523+1754C>G - IntronicSNV - 3/11 1
1-55048485-G-A c.523+1839G>A - IntronicSNV - 3/11 1
1-55048485-G-T c.523+1839G>T - IntronicSNV - 3/11 1
1-55048509-T-C c.523+1863T>C - IntronicSNV - 3/11 1
1-55048542-G-T c.523+1896G>T - IntronicSNV - 3/11 1
1-55049283-G-A c.523+2637G>A - IntronicSNV - 3/11 2
1-55049561-C-A c.524-2717C>A - IntronicSNV - 3/11 1
1-55049864-C-G c.524-2414C>G - IntronicSNV - 3/11 1
1-55049864-C-T c.524-2414C>T - IntronicSNV - 3/11 1
1-55050331-C-A c.524-1947C>A - IntronicSNV - 3/11 8
1-55050835-A-G c.524-1443A>G - IntronicSNV - 3/11 1
1-55051040-C-T c.524-1238C>T - IntronicSNV - 3/11 1
1-55051671-C-G c.524-607C>G - IntronicSNV - 3/11 7
1-55051671-C-T c.524-607C>T - IntronicSNV - 3/11 7
1-55052188-C-G c.524-90C>G - IntronicSNV - 3/11 2
1-55052210-C-G c.524-68C>G - IntronicSNV - 3/11 1
1-55052267-G-A c.524-11G>A - IntronicSNV - 3/11 2
1-55052267-G-T c.524-11G>T - IntronicSNV - 3/11 2
1-55052279-C-T c.525C>T p.D175= Synonymous 4/12 - 1
1-55052304-C-T c.550C>T p.L184F Missense 4/12 - 1
1-55052311-A-G c.557A>G p.D186G Missense 4/12 - 1
1-55052323-A-G c.569A>G p.Q190R Missense 4/12 - 1
1-55052334-CG-GC c.580_581delinsGC p.R194A Missense 4/12 - 5
1-55052334-C-T c.580C>T p.R194W Missense 4/12 - 1
1-55052346-GGGCAGGGTCA-G c.592_601del p.G198Wfs*66 Frameshift 4/12 - 1
1-55052364-G-A c.610G>A p.D204N Missense 4/12 - 3
1-55052370-G-A c.616G>A p.E206K Missense 4/12 - 1
1-55052397-CG-GC c.643_644delinsGC p.R215A Missense 4/12 - 3
1-55052397-C-T c.643C>T p.R215C Missense 4/12 - 2
1-55052398-G-A c.644G>A p.R215H Missense 4/12 - 15
1-55052400-T-C c.646T>C p.F216L Missense 4/12 - 40
1-55052400-TT-CG c.646_647delinsCG p.F216R Missense 4/12 - 1
1-55052402-C-A c.648C>A p.F216L Missense 4/12 - 11
1-55052402-C-G c.648C>G p.F216L Missense 4/12 - 11
1-55052403-CA-GC c.649_650delinsGC p.H217A Missense 4/12 - 1
1-55052404-A-G c.650A>G p.H217R Missense 4/12 - 1
1-55052406-AGA-CAT c.652_654delinsCAT p.R218H Missense 4/12 - 1
1-55052406-AG-GC c.652_653delinsGC p.R218A Missense 4/12 - 2
1-55052408-A-C c.654A>C p.R218S Missense 4/12 - 28
1-55052408-A-T c.654A>T p.R218S Missense 4/12 - 28
1-55052409-C-G c.655C>G p.Q219E Missense 4/12 - 1
1-55052412-G-T c.657+1G>T - IntronicSNV - 4/11 1
1-55052420-G-A c.657+9G>A - IntronicSNV - 4/11 3
1-55052487-C-A c.657+76C>A - IntronicSNV - 4/11 3
1-55052487-C-G c.657+76C>G - IntronicSNV - 4/11 3
1-55052493-G-A c.657+82G>A - IntronicSNV - 4/11 3
1-55052493-G-C c.657+82G>C - IntronicSNV - 4/11 2
1-55052493-G-T c.657+82G>T - IntronicSNV - 4/11 2
1-55052643-C-T c.658-7C>T - IntronicSNV - 4/11 8
1-55052648-A-C c.658-2A>C - IntronicSNV - 4/11 1
1-55052648-A-G c.658-2A>G - IntronicSNV - 4/11 1
1-55052650-G-A c.658G>A p.A220T Missense 5/12 - 3
1-55052668-CA-GC c.676_677delinsGC p.H226A Missense 5/12 - 8
1-55052678-A-G c.686A>G p.H229R Missense 5/12 - 1
1-55052679-C-T c.687C>T p.H229= Synonymous 5/12 - 2
1-55052680-CT-GC c.688_689delinsGC p.L230A Missense 5/12 - 1
1-55052680-CT-GG c.688_689delinsGG p.L230G Missense 5/12 - 1
1-55052680-CT-TC c.688_689delinsTC p.L230S Missense 5/12 - 1
1-55052697-C-T c.705C>T p.S235= Synonymous 5/12 - 1
1-55052698-G-A c.706G>A p.G236S Missense 5/12 - 9
1-55052701-C-T c.709C>T p.R237W Missense 5/12 - 14
1-55052702-GG-AT c.710_711delinsAT p.R237H Missense 5/12 - 1
1-55052705-A-C c.713A>C p.D238A Missense 5/12 - 1
1-55052708-C-A c.716C>A p.A239D Missense 5/12 - 1
1-55052712-C-T c.720C>T p.G240= Synonymous 5/12 - 1
1-55052713-G-A c.721G>A p.V241M Missense 5/12 - 1
1-55052723-G-A c.731G>A p.G244D Missense 5/12 - 1
1-55052725-G-A c.733G>A p.A245T Missense 5/12 - 3
1-55052734-CG-GC c.742_743delinsGC p.R248A Missense 5/12 - 1
1-55052735-GC-AA c.743_744delinsAA p.R248Q Missense 5/12 - 1
1-55052737-A-T c.745A>T p.S249C Missense 5/12 - 1
1-55052743-CG-GC c.751_752delinsGC p.R251A Missense 5/12 - 1
1-55052743-C-T c.751C>T p.R251C Missense 5/12 - 1
1-55052745-C-T c.753C>T p.R251= Synonymous 5/12 - 1
1-55052746-G-A c.754G>A p.V252M Missense 5/12 - 1
1-55052746-G-C c.754G>C p.V252L Missense 5/12 - 1
1-55052749-C-T c.757C>T p.L253F Missense 5/12 - 19
1-55052749-CTC-GAG c.757_759inv p.L253E Missense 5/12 - 1
1-55052785-CTC-ATG c.793_795delinsATG p.L265M Missense 5/12 - 1
1-55052794-A-G c.799+3A>G - IntronicSNV - 5/11 13
1-55052855-C-A c.799+64C>A - IntronicSNV - 5/11 2
1-55052949-T-C c.799+158T>C - IntronicSNV - 5/11 3
1-55053009-C-T c.799+218C>T - IntronicSNV - 5/11 2
1-55053079-C-T c.799+288C>T - IntronicSNV - 5/11 22
1-55053341-C-T c.799+550C>T - IntronicSNV - 5/11 1
1-55053342-G-A c.799+551G>A - IntronicSNV - 5/11 4
1-55053342-G-T c.799+551G>T - IntronicSNV - 5/11 4
1-55053395-A-T c.799+604A>T - IntronicSNV - 5/11 1
1-55053501-G-A c.799+710G>A - IntronicSNV - 5/11 6
1-55053501-G-C c.799+710G>C - IntronicSNV - 5/11 5
1-55053558-A-T c.799+767A>T - IntronicSNV - 5/11 1
1-55053565-C-T c.799+774C>T - IntronicSNV - 5/11 2
1-55054539-G-A c.800-1454G>A - IntronicSNV - 5/11 3
1-55054592-T-C c.800-1401T>C - IntronicSNV - 5/11 2
1-55054772-A-G c.800-1221A>G - IntronicSNV - 5/11 3
1-55055191-A-G c.800-802A>G - IntronicSNV - 5/11 3
1-55055265-G-A c.800-728G>A - IntronicSNV - 5/11 1
1-55055436-G-A c.800-557G>A - IntronicSNV - 5/11 3
1-55055436-G-C c.800-557G>C - IntronicSNV - 5/11 3
1-55055569-T-A c.800-424T>A - IntronicSNV - 5/11 2
1-55055569-T-G c.800-424T>G - IntronicSNV - 5/11 2
1-55055640-G-T c.800-353G>T - IntronicSNV - 5/11 2
1-55056007-C-T c.814C>T p.R272W Missense 6/12 - 2
1-55056008-G-A c.815G>A p.R272Q Missense 6/12 - 2
1-55056028-C-A c.835C>A p.P279T Missense 6/12 - 2
1-55056028-C-G c.835C>G p.P279A Missense 6/12 - 1
1-55056040-C-A c.847C>A p.L283M Missense 6/12 - 1
1-55056043-G-A c.850G>A p.V284M Missense 6/12 - 1
1-55056046-GTG-ATC c.853_855delinsATC p.V285I Missense 6/12 - 1
1-55056052-C-T c.859C>T p.L287= Synonymous 6/12 - 1
1-55056081-C-A c.888C>A p.V296= Synonymous 6/12 - 1
1-55056085-AA-GC c.892_893delinsGC p.N298A Missense 6/12 - 1
1-55056094-TG-AC c.901_902delinsAC p.C301T Missense 6/12 - 1
1-55056097-C-T c.904C>T p.Q302* Nonsense 6/12 - 1
1-55056111-G-C c.918G>C p.R306S Missense 6/12 - 3
1-55056111-G-T c.918G>T p.R306S Missense 6/12 - 3
1-55056115-G-A c.922G>A p.G308R Missense 6/12 - 1
1-55056115-G-C c.922G>C p.G308R Missense 6/12 - 1
1-55056124-CT-AC c.931_932delinsAC p.L311T Missense 6/12 - 1
1-55056127-G-T c.934G>T p.V312F Missense 6/12 - 2
1-55056127-GT-AG c.934_935delinsAG p.V312S Missense 6/12 - 2
1-55056133-G-A c.940G>A p.A314T Missense 6/12 - 1
1-55056139-G-T c.946G>T p.G316C Missense 6/12 - 2
1-55056148-CG-AA c.955_956delinsAA p.R319K Missense 6/12 - 1
1-55056148-CG-GA c.955_956delinsGA p.R319E Missense 6/12 - 2
1-55056151-G-A c.958G>A p.D320N Missense 6/12 - 2
1-55056159-C-T c.966C>T p.A322= Synonymous 6/12 - 1
1-55056163-CTC-ATG c.970_972delinsATG p.L324M Missense 6/12 - 1
1-55056181-G-C c.988G>C p.A330P Missense 6/12 - 1
1-55056184-C-G c.991C>G p.P331A Missense 6/12 - 1
1-55056188-A-G c.995A>G p.E332G Missense 6/12 - 1
1-55056226-GGGGCGGA-G c.996+55_996+61del - IntronicDeletion - 6/11 1
1-55056270-G-A c.996+81G>A - IntronicSNV - 6/11 1
1-55056468-A-C c.996+279A>C - IntronicSNV - 6/11 2
1-55056468-A-G c.996+279A>G - IntronicSNV - 6/11 2
1-55056752-G-A c.996+563G>A - IntronicSNV - 6/11 1
1-55057001-C-T c.997-330C>T - IntronicSNV - 6/11 1
1-55057360-A-G c.1026A>G p.Q342= Synonymous 7/12 - 3
1-55057361-G-C c.1027G>C p.D343H Missense 7/12 - 1
1-55057362-A-C c.1028A>C p.D343A Missense 7/12 - 1
1-55057364-C-A c.1030C>A p.Q344K Missense 7/12 - 1
1-55057369-G-A c.1035G>A p.P345= Synonymous 7/12 - 1
1-55057369-G-C c.1035G>C p.P345= Synonymous 7/12 - 1
1-55057369-G-T c.1035G>T p.P345= Synonymous 7/12 - 1
1-55057380-G-A c.1046G>A p.G349E Missense 7/12 - 1
1-55057395-A-T c.1061A>T p.N354I Missense 7/12 - 8
1-55057403-C-T c.1069C>T p.R357C Missense 7/12 - 6
1-55057404-G-A c.1070G>A p.R357H Missense 7/12 - 8
1-55057406-TG-GC c.1072_1073delinsGC p.C358A Missense 7/12 - 1
1-55057407-G-A c.1073G>A p.C358Y Missense 7/12 - 1
1-55057409-G-A c.1075G>A p.V359M Missense 7/12 - 1
1-55057421-GCC-G c.1090_1091del p.P364Rfs*62 Frameshift 7/12 - 1
1-55057427-G-A c.1093G>A p.G365R Missense 7/12 - 1
1-55057427-G-C c.1093G>C p.G365R Missense 7/12 - 1
1-55057434-A-C c.1100A>C p.D367A Missense 7/12 - 1
1-55057439-AT-GC c.1105_1106delinsGC p.I369A Missense 7/12 - 1
1-55057448-T-G c.1114T>G p.S372A Missense 7/12 - 1
1-55057454-G-A c.1120G>A p.D374N Missense 7/12 - 3
1-55057454-GAC-AAG c.1120_1122delinsAAG p.D374K Missense 7/12 - 1
1-55057454-GA-CC c.1120_1121delinsCC p.D374P Missense 7/12 - 1
1-55057454-GA-CT c.1120_1121delinsCT p.D374L Missense 7/12 - 1
1-55057454-G-C c.1120G>C p.D374H Missense 7/12 - 13
1-55057454-G-T c.1120G>T p.D374Y Missense 7/12 - 185
1-55057455-A-C c.1121A>C p.D374A Missense 7/12 - 2
1-55057455-A-G c.1121A>G p.D374G Missense 7/12 - 1
1-55057456-C-A c.1122C>A p.D374E Missense 7/12 - 1
1-55057456-C-G c.1122C>G p.D374E Missense 7/12 - 1
1-55057460-A-G c.1126A>G p.S376G Missense 7/12 - 1
1-55057461-G-C c.1127G>C p.S376T Missense 7/12 - 1
1-55057469-TT-GC c.1135_1136delinsGC p.F379A Missense 7/12 - 5
1-55057470-T-C c.1136T>C p.F379S Missense 7/12 - 1
1-55057473-T-C c.1139T>C p.V380A Missense 7/12 - 1
1-55057475-T-G c.1141T>G p.S381A Missense 7/12 - 1
1-55057478-CA-GC c.1144_1145delinsGC p.Q382A Missense 7/12 - 1
1-55057478-C-G c.1144C>G p.Q382E Missense 7/12 - 1
1-55057481-AG-GC c.1147_1148delinsGC p.S383A Missense 7/12 - 1
1-55057490-T-G c.1156T>G p.S386A Missense 7/12 - 17
1-55057493-C-T c.1159C>T p.Q387* Nonsense 7/12 - 2
1-55057505-C-A c.1171C>A p.H391N Missense 7/12 - 6
1-55057514-G-A c.1180G>A p.G394S Missense 7/12 - 1
1-55057688-A-G c.1180+174A>G - IntronicSNV - 7/11 4
1-55057810-C-A c.1181-226C>A - IntronicSNV - 7/11 1
1-55057810-C-G c.1181-226C>G - IntronicSNV - 7/11 1
1-55057810-C-T c.1181-226C>T - IntronicSNV - 7/11 1
1-55058041-G-T c.1186G>T p.A396S Missense 8/12 - 1
1-55058056-TCT-GAG c.1201_1203delinsGAG p.S401E Missense 8/12 - 1
1-55058056-T-G c.1201T>G p.S401A Missense 8/12 - 1
1-55058062-G-A c.1207G>A p.E403K Missense 8/12 - 1
1-55058088-G-A c.1233G>A p.L411= Synonymous 8/12 - 1
1-55058106-C-A c.1251C>A p.H417Q Missense 8/12 - 6
1-55058106-C-G c.1251C>G p.H417Q Missense 8/12 - 1
1-55058129-A-G c.1274A>G p.N425S Missense 8/12 - 15
1-55058136-C-A c.1281C>A p.A427= Synonymous 8/12 - 1
1-55058136-C-G c.1281C>G p.A427= Synonymous 8/12 - 1
1-55058136-C-T c.1281C>T p.A427= Synonymous 8/12 - 1
1-55058138-G-A c.1283G>A p.W428* Nonsense 8/12 - 2
1-55058139-G-A c.1284G>A p.W428* Nonsense 8/12 - 2
1-55058149-G-A c.1294G>A p.D432N Missense 8/12 - 1
1-55058155-C-T c.1300C>T p.R434W Missense 8/12 - 13
1-55058182-G-A c.1327G>A p.A443T Missense 8/12 - 31
1-55058182-G-C c.1327G>C p.A443P Missense 8/12 - 2
1-55058186-T-C c.1331T>C p.L444P Missense 8/12 - 1
1-55058191-C-T c.1336C>T p.P446S Missense 8/12 - 1
1-55058192-C-T c.1337C>T p.P446L Missense 8/12 - 9
1-55058194-AGC-TGA c.1339_1341delinsTGA p.S447* Nonsense 8/12 - 23
1-55058311-C-T c.1354+102C>T - IntronicSNV - 8/11 2
1-55058443-C-A c.1355-56C>A - IntronicSNV - 8/11 9
1-55058443-C-G c.1355-56C>G - IntronicSNV - 8/11 9
1-55058443-C-T c.1355-56C>T - IntronicSNV - 8/11 9
1-55058499-G-A c.1355G>A p.G452D Missense 9/12 - 1
1-55058507-CT-TA c.1363_1364delinsTA p.L455* Nonsense 9/12 - 6
1-55058519-A-G c.1375A>G p.T459A Missense 9/12 - 1
1-55058524-A-C c.1380A>C p.V460= Synonymous 9/12 - 9
1-55058524-A-G c.1380A>G p.V460= Synonymous 9/12 - 11
1-55058525-TG-GC c.1381_1382delinsGC p.W461A Missense 9/12 - 1
1-55058528-T-C c.1384T>C p.S462P Missense 9/12 - 14
1-55058535-A-G c.1391A>G p.H464R Missense 9/12 - 1
1-55058538-C-T c.1394C>T p.S465L Missense 9/12 - 6
1-55058541-G-A c.1397G>A p.G466E Missense 9/12 - 2
1-55058543-C-G c.1399C>G p.P467A Missense 9/12 - 2
1-55058543-GCC-G c.1399_1400del p.P467Yfs*14 Frameshift 9/12 - 1
1-55058549-C-T c.1405C>T p.R469W Missense 9/12 - 17
1-55058564-G-A c.1420G>A p.V474I Missense 9/12 - 49
1-55058570-C-T c.1426C>T p.R476C Missense 9/12 - 3
1-55058571-G-A c.1427G>A p.R476H Missense 9/12 - 1
1-55058580-C-T c.1436C>T p.P479L Missense 9/12 - 1
1-55058582-G-A c.1438G>A p.D480N Missense 9/12 - 1
1-55058583-A-G c.1439A>G p.D480G Missense 9/12 - 1
1-55058586-A-C c.1442A>C p.E481A Missense 9/12 - 1
1-55058588-GA-AG c.1444_1445delinsAG p.E482R Missense 9/12 - 1
1-55058588-G-C c.1444G>C p.E482Q Missense 9/12 - 1
1-55058589-A-G c.1445A>G p.E482G Missense 9/12 - 4
1-55058627-C-T c.1483C>T p.R495W Missense 9/12 - 1
1-55058630-C-T c.1486C>T p.R496W Missense 9/12 - 22
1-55058631-G-A c.1487G>A p.R496Q Missense 9/12 - 3
1-55058635-C-G c.1491C>G p.G497= Synonymous 9/12 - 1
1-55058636-G-A c.1492G>A p.E498K Missense 9/12 - 4
1-55058639-C-T c.1495C>T p.R499C Missense 9/12 - 2
1-55058640-G-A c.1496G>A p.R499H Missense 9/12 - 6
1-55058640-G-T c.1496G>T p.R499L Missense 9/12 - 1
1-55058647-G-A c.1503G>A p.E501= Synonymous 9/12 - 1
1-55058928-G-A c.1503+281G>A - IntronicSNV - 9/11 4
1-55058928-G-C c.1503+281G>C - IntronicSNV - 9/11 4
1-55059169-G-A c.1504-317G>A - IntronicSNV - 9/11 5
1-55059470-C-T c.1504-16C>T - IntronicSNV - 9/11 1
1-55059510-CGG-TGT c.1528_1530delinsTGT p.R510C Missense 10/12 - 1
1-55059513-G-A c.1531G>A p.A511T Missense 10/12 - 1
1-55059521-C-T c.1539C>T p.N513= Synonymous 10/12 - 1
1-55059522-G-A c.1540G>A p.A514T Missense 10/12 - 3
1-55059525-T-C c.1543T>C p.F515L Missense 10/12 - 1
1-55059525-TT-GC c.1543_1544delinsGC p.F515A Missense 10/12 - 1
1-55059527-T-A c.1545T>A p.F515L Missense 10/12 - 1
1-55059527-T-G c.1545T>G p.F515L Missense 10/12 - 5
1-55059529-G-A c.1547G>A p.G516E Missense 10/12 - 1
1-55059529-G-T c.1547G>T p.G516V Missense 10/12 - 1
1-55059531-G-C c.1549G>C p.G517R Missense 10/12 - 1
1-55059546-G-A c.1564G>A p.A522T Missense 10/12 - 5
1-55059553-C-T c.1571C>T p.A524V Missense 10/12 - 1
1-55059556-G-C c.1574G>C p.R525T Missense 10/12 - 1
1-55059579-AA-GC c.1597_1598delinsGC p.N533A Missense 10/12 - 2
1-55059591-CA-GC c.1609_1610delinsGC p.H537A Missense 10/12 - 1
1-55059603-C-T c.1621C>T p.P541S Missense 10/12 - 1
1-55059627-CG-GC c.1645_1646delinsGC p.R549A Missense 10/12 - 1
1-55059627-CGT-TGG c.1645_1647delinsTGG p.R549W Missense 10/12 - 1
1-55059628-G-A c.1646G>A p.R549H Missense 10/12 - 1
1-55059633-CA-GC c.1651_1652delinsGC p.H551A Missense 10/12 - 1
1-55059639-CA-GC c.1657_1658delinsGC p.H553A Missense 10/12 - 1
1-55059640-A-G c.1658A>G p.H553R Missense 10/12 - 15
1-55059642-C-A c.1660C>A p.Q554K Missense 10/12 - 3
1-55059642-C-G c.1660C>G p.Q554E Missense 10/12 - 12
1-55059651-CA-GC c.1669_1670delinsGC p.H557A Missense 10/12 - 1
1-55059727-G-A c.1681+64G>A - IntronicSNV - 10/11 5
1-55060053-T-A c.1681+390T>A - IntronicSNV - 10/11 2
1-55060053-T-G c.1681+390T>G - IntronicSNV - 10/11 2
1-55060195-C-T c.1681+532C>T - IntronicSNV - 10/11 2
1-55060623-A-C c.1682-752A>C - IntronicSNV - 10/11 7
1-55060623-A-G c.1682-752A>G - IntronicSNV - 10/11 7
1-55060755-T-C c.1682-620T>C - IntronicSNV - 10/11 5
1-55060755-T-G c.1682-620T>G - IntronicSNV - 10/11 5
1-55061012-G-A c.1682-363G>A - IntronicSNV - 10/11 4
1-55061378-G-A c.1685G>A p.C562Y Missense 11/12 - 1
1-55061413-CA-GC c.1720_1721delinsGC p.H574A Missense 11/12 - 1
1-55061420-C-T c.1727C>T p.P576L Missense 11/12 - 1
1-55061421-G-A c.1728G>A p.P576= Synonymous 11/12 - 1
1-55061421-G-C c.1728G>C p.P576= Synonymous 11/12 - 1
1-55061421-G-T c.1728G>T p.P576= Synonymous 11/12 - 1
1-55061426-T-C c.1733T>C p.V578A Missense 11/12 - 1
1-55061431-AG-GC c.1738_1739delinsGC p.R580A Missense 11/12 - 1
1-55061431-AG-TA c.1738_1739delinsTA p.R580* Nonsense 11/12 - 1
1-55061437-C-T c.1744C>T p.R582* Nonsense 11/12 - 1
1-55061470-G-C c.1777G>C p.E593Q Missense 11/12 - 1
1-55061485-G-A c.1792G>A p.A598T Missense 11/12 - 1
1-55061497-CA-GC c.1804_1805delinsGC p.H602A Missense 11/12 - 1
1-55061513-A-G c.1820A>G p.E607G Missense 11/12 - 1
1-55061516-G-T c.1823G>T p.C608F Missense 11/12 - 1
1-55061521-GT-CG c.1828_1829delinsCG p.V610R Missense 11/12 - 1
1-55061527-G-A c.1834G>A p.E612K Missense 11/12 - 1
1-55061540-C-T c.1847C>T p.P616L Missense 11/12 - 2
1-55061543-C-A c.1850C>A p.A617D Missense 11/12 - 2
1-55061544-C-G c.1851C>G p.A617= Synonymous 11/12 - 1
1-55061544-C-T c.1851C>T p.A617= Synonymous 11/12 - 1
1-55061546-C-T c.1853C>T p.P618L Missense 11/12 - 1
1-55061548-C-T c.1855C>T p.Q619* Nonsense 11/12 - 1
1-55061549-A-C c.1856A>C p.Q619P Missense 11/12 - 5
1-55061549-A-T c.1856A>T p.Q619L Missense 11/12 - 1
1-55061557-G-A c.1863+1G>A - IntronicSNV - 11/11 1
1-55061566-C-T c.1863+10C>T - IntronicSNV - 11/11 1
1-55061576-C-G c.1863+20C>G - IntronicSNV - 11/11 1
1-55061592-T-C c.1863+36T>C - IntronicSNV - 11/11 1
1-55061650-G-A c.1863+94G>A - IntronicSNV - 11/11 3
1-55061662-C-T c.1863+106C>T - IntronicSNV - 11/11 1
1-55061806-A-G c.1863+250A>G - IntronicSNV - 11/11 3
1-55062245-C-T c.1863+689C>T - IntronicSNV - 11/11 2
1-55062956-G-A c.1864-413G>A - IntronicSNV - 11/11 11
1-55063134-G-C c.1864-235G>C - IntronicSNV - 11/11 2
1-55063357-G-A c.1864-12G>A - IntronicSNV - 11/11 1
1-55063369-G-A c.1864G>A p.V622M Missense 12/12 - 1
1-55063375-G-A c.1870G>A p.V624M Missense 12/12 - 2
1-55063408-T-C c.1903T>C p.C635R Missense 12/12 - 2
1-55063411-A-C c.1906A>C p.S636R Missense 12/12 - 4
1-55063413-T-A c.1908T>A p.S636R Missense 12/12 - 2
1-55063413-T-G c.1908T>G p.S636R Missense 12/12 - 2
1-55063433-A-G c.1928A>G p.H643R Missense 12/12 - 1
1-55063435-G-A c.1930G>A p.V644I Missense 12/12 - 1
1-55063435-GT-CG c.1930_1931delinsCG p.V644R Missense 12/12 - 1
1-55063444-G-C c.1939G>C p.A647P Missense 12/12 - 1
1-55063453-GTA-ATG c.1948_1950delinsATG p.V650M Missense 12/12 - 1
1-55063459-A-G c.1954A>G p.N652D Missense 12/12 - 1
1-55063469-GT-G c.1964del p.V655Efs*18 Frameshift 12/12 - 1
1-55063480-C-G c.1975C>G p.R659G Missense 12/12 - 1
1-55063480-C-T c.1975C>T p.R659W Missense 12/12 - 1
1-55063481-G-A c.1976G>A p.R659Q Missense 12/12 - 1
1-55063483-G-C c.1978G>C p.D660H Missense 12/12 - 1
1-55063484-A-C c.1979A>C p.D660A Missense 12/12 - 2
1-55063496-C-T c.1991C>T p.T664I Missense 12/12 - 1
1-55063501-AGC-GAG c.1996_1998delinsGAG p.S666E Missense 12/12 - 1
1-55063501-AG-GC c.1996_1997delinsGC p.S666A Missense 12/12 - 1
1-55063507-A-G c.2002A>G p.S668G Missense 12/12 - 2
1-55063507-AGC-GAG c.2002_2004delinsGAG p.S668E Missense 12/12 - 1
1-55063507-AG-GC c.2002_2003delinsGC p.S668A Missense 12/12 - 1
1-55063507-A-C c.2002A>C p.S668R Missense 12/12 - 6
1-55063509-C-A c.2004C>A p.S668R Missense 12/12 - 8
1-55063509-C-G c.2004C>G p.S668R Missense 12/12 - 6
1-55063510-GA-TC c.2005_2006inv p.E669S Missense 12/12 - 1
1-55063514-G-A c.2009G>A p.G670E Missense 12/12 - 73
1-55063521-G-A c.2016G>A p.V672= Synonymous 12/12 - 1
1-55063521-G-C c.2016G>C p.V672= Synonymous 12/12 - 1
1-55063521-G-T c.2016G>T p.V672= Synonymous 12/12 - 1
1-55063538-G-A c.2033G>A p.C678Y Missense 12/12 - 2
1-55063539-C-A c.2034C>A p.C678* Nonsense 12/12 - 1
1-55063540-T-A c.2035T>A p.C679S Missense 12/12 - 1
1-55063540-TG-GC c.2035_2036delinsGC p.C679A Missense 12/12 - 1
1-55063541-G-C c.2036G>C p.C679S Missense 12/12 - 1
1-55063542-C-A c.2037C>A p.C679* Nonsense 12/12 - 101
1-55063542-C-T c.2037C>T p.C679= Synonymous 12/12 - 6
1-55063543-CG-GC c.2038_2039delinsGC p.R680A Missense 12/12 - 1
1-55063552-C-CA c.2048dup p.H683Qfs*28 Frameshift 12/12 - 1
1-55063554-C-T c.2049C>T p.H683= Synonymous 12/12 - 1
1-55063559-C-T c.2054C>T p.A685V Missense 12/12 - 1
1-55063567-TC-GA c.2062_2063inv p.S688D Missense 12/12 - 1
1-55063567-T-G c.2062T>G p.S688A Missense 12/12 - 1
1-55063573-GA-TC c.2068_2069inv p.E690S Missense 12/12 - 1
1-55064028-G-C c.*444G>C - 3-UTRSNV 12/12 - 1
1-55064028-G-T c.*444G>T - 3-UTRSNV 12/12 - 1
1-55064155-C-T c.*571C>T - 3-UTRSNV 12/12 - 7
1-55064198-C-G c.*614C>G - 3-UTRSNV 12/12 - 3
1-55064198-C-T c.*614C>T - 3-UTRSNV 12/12 - 3