APOE

APOE apolipoprotein E

Annotation transcript: NM_000041.4

883 unique variant annotations were identified in 1236 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
19-45409113-C-T c.-24+15C>T - intron_variant - 1/3 5
19-45409123-G-A c.-24+25G>A - intron_variant - 1/3 1
19-45409123-G-C c.-24+25G>C - intron_variant - 1/3 1
19-45409136-G-A c.-24+38G>A - intron_variant - 1/3 1
19-45409145-G-A c.-24+47G>A - intron_variant - 1/3 1
19-45409167-C-G c.-24+69C>G - intron_variant - 1/3 79
19-45409167-C-T c.-24+69C>T - intron_variant - 1/3 79
19-45409180-G-A c.-24+82G>A - intron_variant - 1/3 3
19-45409235-G-A c.-24+137G>A - intron_variant - 1/3 3
19-45409283-C-A c.-24+185C>A - intron_variant - 1/3 9
19-45409283-C-T c.-24+185C>T - intron_variant - 1/3 9
19-45409342-G-A c.-24+244G>A - intron_variant - 1/3 1
19-45409342-G-C c.-24+244G>C - intron_variant - 1/3 1
19-45409360-T-C c.-24+262T>C - intron_variant - 1/3 1
19-45409386-G-A c.-24+288G>A - intron_variant - 1/3 1
19-45409482-A-G c.-23-377A>G - IntronicSNV - 1/3 2
19-45409526-G-A c.-23-333G>A - IntronicSNV - 1/3 3
19-45409543-A-G c.-23-316A>G - IntronicSNV - 1/3 4
19-45409565-G-C c.-23-294G>C - IntronicSNV - 1/3 1
19-45409579-C-G c.-23-280C>G - IntronicSNV - 1/3 10
19-45409579-C-T c.-23-280C>T - IntronicSNV - 1/3 10
19-45409595-G-C c.-23-264G>C - IntronicSNV - 1/3 3
19-45409595-G-T c.-23-264G>T - IntronicSNV - 1/3 3
19-45409608-A-C c.-23-251A>C - IntronicSNV - 1/3 3
19-45409635-A-G c.-23-224A>G - IntronicSNV - 1/3 1
19-45409706-T-C c.-23-153T>C - IntronicSNV - 1/3 1
19-45409089-C-T c.-33C>T - IntronicSNV 1/4 - 1
19-45409090-C-T c.-32C>T - IntronicSNV 1/4 - 3
19-45409874-G-A c.-8G>A - 5-UTRSNV 2/4 - 1
19-45409874-G-T c.-8G>T - 5-UTRSNV 2/4 - 1
19-45409882-A-C c.1A>C p.M1? Missense 2/4 - 1
19-45409886-A-C c.5A>C p.K2T Missense 2/4 - 1
19-45409887-G-A c.6G>A p.K2= Synonymous 2/4 - 3
19-45409888-G-T c.7G>T p.V3F Missense 2/4 - 1
19-45409891-C-T c.10C>T p.L4= Synonymous 2/4 - 2
19-45409893-G-A c.12G>A p.L4= Synonymous 2/4 - 2
19-45409893-G-C c.12G>C p.L4= Synonymous 2/4 - 2
19-45409893-G-T c.12G>T p.L4= Synonymous 2/4 - 2
19-45409894-T-A c.13T>A p.W5R Missense 2/4 - 1
19-45409894-T-C c.13T>C p.W5R Missense 2/4 - 1
19-45409896-G-C c.15G>C p.W5C Missense 2/4 - 1
19-45409896-G-T c.15G>T p.W5C Missense 2/4 - 1
19-45409898-C-A c.17C>A p.A6D Missense 2/4 - 1
19-45409901-C-T c.20C>T p.A7V Missense 2/4 - 1
19-45409902-G-A c.21G>A p.A7= Synonymous 2/4 - 2
19-45409902-G-C c.21G>C p.A7= Synonymous 2/4 - 2
19-45409902-G-T c.21G>T p.A7= Synonymous 2/4 - 2
19-45409906-C-T c.25C>T p.L9= Synonymous 2/4 - 1
19-45409909-G-A c.28G>A p.V10I Missense 2/4 - 1
19-45409911-C-A c.30C>A p.V10= Synonymous 2/4 - 1
19-45409912-AC-GT c.31_32inv p.T11V Missense 2/4 - 1
19-45409912-A-G c.31A>G p.T11A Missense 2/4 - 2
19-45409912-A-T c.31A>T p.T11S Missense 2/4 - 1
19-45409913-C-G c.32C>G p.T11R Missense 2/4 - 1
19-45409913-C-T c.32C>T p.T11I Missense 2/4 - 1
19-45409915-TT-CA c.34_35delinsCA p.F12H Missense 2/4 - 1
19-45409915-TTC-AAG c.34_36delinsAAG p.F12K Missense 2/4 - 1
19-45409915-TTC-GAG c.34_36delinsGAG p.F12E Missense 2/4 - 1
19-45409915-TT-GA c.34_35delinsGA p.F12D Missense 2/4 - 1
19-45409915-TT-GC c.34_35delinsGC p.F12A Missense 2/4 - 1
19-45409915-TT-GG c.34_35delinsGG p.F12G Missense 2/4 - 1
19-45409916-T-A c.35T>A p.F12Y Missense 2/4 - 1
19-45409916-T-G c.35T>G p.F12C Missense 2/4 - 1
19-45409917-C-T c.36C>T p.F12= Synonymous 2/4 - 2
19-45409918-CT-GC c.37_38delinsGC p.L13A Missense 2/4 - 6
19-45409918-CT-TA c.37_38delinsTA p.L13* Nonsense 2/4 - 1
19-45409919-T-G c.38T>G p.L13R Missense 2/4 - 1
19-45409921-G-A c.40G>A p.A14T Missense 2/4 - 1
19-45409921-GCA-ATG c.40_42delinsATG p.A14M Missense 2/4 - 1
19-45409921-GCA-TAT c.40_42delinsTAT p.A14Y Missense 2/4 - 1
19-45409921-GCA-TGT c.40_42delinsTGT p.A14C Missense 2/4 - 2
19-45409921-GC-TA c.40_41delinsTA p.A14* Nonsense 2/4 - 1
19-45409922-C-A c.41C>A p.A14E Missense 2/4 - 3
19-45409923-A-ACTG c.42_43insCTG p.A14_G15insL SpliceDonorInsertion 2/4 - 1
19-45409923-A-AGCT c.43_43+1insCTG p.A14dup SpliceDonorInsertion - - 1
19-45409932-G-A c.43+8G>A - IntronicSNV - 2/3 1
19-45409935-G-A c.43+11G>A - IntronicSNV - 2/3 1
19-45409946-G-C c.43+22G>C - IntronicSNV - 2/3 2
19-45409946-G-T c.43+22G>T - IntronicSNV - 2/3 2
19-45409948-T-C c.43+24T>C - IntronicSNV - 2/3 1
19-45409966-C-G c.43+42C>G - IntronicSNV - 2/3 1
19-45409966-C-T c.43+42C>T - IntronicSNV - 2/3 1
19-45409988-C-T c.43+64C>T - IntronicSNV - 2/3 3
19-45410002-G-A c.43+78G>A - IntronicSNV - 2/3 137
19-45410076-G-A c.43+152G>A - IntronicSNV - 2/3 3
19-45410138-T-C c.43+214T>C - IntronicSNV - 2/3 1
19-45410149-T-C c.43+225T>C - IntronicSNV - 2/3 1
19-45410273-G-A c.43+349G>A - IntronicSNV - 2/3 5
19-45410297-C-G c.43+373C>G - IntronicSNV - 2/3 1
19-45410298-C-A c.43+374C>A - IntronicSNV - 2/3 1
19-45410298-C-T c.43+374C>T - IntronicSNV - 2/3 1
19-45410444-G-A c.43+520G>A - IntronicSNV - 2/3 45
19-45410470-C-G c.43+546C>G - IntronicSNV - 2/3 1
19-45410509-A-T c.44-508A>T - IntronicSNV - 2/3 1
19-45410548-A-G c.44-469A>G - IntronicSNV - 2/3 4
19-45410582-G-A c.44-435G>A - IntronicSNV - 2/3 1
19-45410582-G-C c.44-435G>C - IntronicSNV - 2/3 1
19-45410595-T-A c.44-422T>A - IntronicSNV - 2/3 2
19-45410595-T-G c.44-422T>G - IntronicSNV - 2/3 2
19-45410671-T-C c.44-346T>C - IntronicSNV - 2/3 1
19-45410911-T-G c.44-106T>G - IntronicSNV - 2/3 8
19-45410925-C-G c.44-92C>G - IntronicSNV - 2/3 1
19-45410966-C-G c.44-51C>G - IntronicSNV - 2/3 1
19-45411019-T-A c.46T>A p.C16S Missense 3/4 - 1
19-45411019-TG-CA c.46_47inv p.C16H Missense 3/4 - 2
19-45411020-G-C c.47G>C p.C16S Missense 3/4 - 1
19-45411020-G-T c.47G>T p.C16F Missense 3/4 - 1
19-45411021-C-A c.48C>A p.C16* Nonsense 3/4 - 2
19-45411023-A-G c.50A>G p.Q17R Missense 3/4 - 1
19-45411025-G-A c.52G>A p.A18T Missense 3/4 - 10
19-45411025-G-C c.52G>C p.A18P Missense 3/4 - 3
19-45411025-GC-AA c.52_53delinsAA p.A18N Missense 3/4 - 1
19-45411025-GC-AT c.52_53delinsAT p.A18I Missense 3/4 - 1
19-45411025-GCC-ATG c.52_54delinsATG p.A18M Missense 3/4 - 1
19-45411025-GCC-CAA c.52_54delinsCAA p.A18Q Missense 3/4 - 1
19-45411025-GC-CG c.52_53delinsCG p.A18R Missense 3/4 - 2
19-45411025-GC-TG c.52_53delinsTG p.A18C Missense 3/4 - 1
19-45411025-GC-TT c.52_53delinsTT p.A18F Missense 3/4 - 2
19-45411026-C-A c.53C>A p.A18D Missense 3/4 - 4
19-45411026-C-G c.53C>G p.A18G Missense 3/4 - 1
19-45411026-C-T c.53C>T p.A18V Missense 3/4 - 1
19-45411034-G-A c.61G>A p.E21K Missense 3/4 - 7
19-45411034-GAG-ATC c.61_63delinsATC p.E21I Missense 3/4 - 1
19-45411034-G-C c.61G>C p.E21Q Missense 3/4 - 1
19-45411034-G-T c.61G>T p.E21* Nonsense 3/4 - 1
19-45411035-A-G c.62A>G p.E21G Missense 3/4 - 1
19-45411039-A-C c.66A>C p.Q22H Missense 3/4 - 1
19-45411039-A-T c.66A>T p.Q22H Missense 3/4 - 1
19-45411040-GCG-TGT c.67_69delinsTGT p.A23C Missense 3/4 - 2
19-45411041-C-A c.68C>A p.A23E Missense 3/4 - 1
19-45411041-C-G c.68C>G p.A23G Missense 3/4 - 2
19-45411041-CG-AC c.68_69delinsAC p.A23D Missense 3/4 - 1
19-45411041-C-T c.68C>T p.A23V Missense 3/4 - 2
19-45411042-G-A c.69G>A p.A23= Synonymous 3/4 - 4
19-45411043-GTG-CAT c.70_72delinsCAT p.V24H Missense 3/4 - 1
19-45411047-A-G c.74A>G p.E25G Missense 3/4 - 1
19-45411048-G-C c.75G>C p.E25D Missense 3/4 - 1
19-45411048-G-T c.75G>T p.E25D Missense 3/4 - 1
19-45411050-CA-AC c.77_78delinsAC p.T26N Missense 3/4 - 2
19-45411052-G-C c.79G>C p.E27Q Missense 3/4 - 2
19-45411054-G-A c.81G>A p.E27= Synonymous 3/4 - 2
19-45411056-C-A c.83C>A p.P28Q Missense 3/4 - 1
19-45411056-C-T c.83C>T p.P28L Missense 3/4 - 1
19-45411057-G-A c.84G>A p.P28= Synonymous 3/4 - 2
19-45411057-G-C c.84G>C p.P28= Synonymous 3/4 - 1
19-45411057-G-T c.84G>T p.P28= Synonymous 3/4 - 1
19-45411058-GAG-TGT c.85_87delinsTGT p.E29C Missense 3/4 - 1
19-45411059-A-C c.86A>C p.E29A Missense 3/4 - 1
19-45411060-G-C c.87G>C p.E29D Missense 3/4 - 1
19-45411060-G-T c.87G>T p.E29D Missense 3/4 - 1
19-45411061-C-T c.88C>T p.P30S Missense 3/4 - 1
19-45411063-C-A c.90C>A p.P30= Synonymous 3/4 - 2
19-45411063-C-G c.90C>G p.P30= Synonymous 3/4 - 4
19-45411063-C-T c.90C>T p.P30= Synonymous 3/4 - 2
19-45411064-G-A c.91G>A p.E31K Missense 3/4 - 12
19-45411064-G-T c.91G>T p.E31* Nonsense 3/4 - 1
19-45411066-G-A c.93G>A p.E31= Synonymous 3/4 - 1
19-45411070-C-T c.97C>T p.R33C Missense 3/4 - 2
19-45411071-G-A c.98G>A p.R33H Missense 3/4 - 1
19-45411071-G-T c.98G>T p.R33L Missense 3/4 - 1
19-45411073-C-A c.100C>A p.Q34K Missense 3/4 - 1
19-45411077-A-G c.104A>G p.Q35R Missense 3/4 - 1
19-45411079-GACC-G c.106_108del p.T36del InFrameDeletion 3/4 - 1
19-45411081-C-G c.108C>G p.T36= Synonymous 3/4 - 1
19-45411081-C-T c.108C>T p.T36= Synonymous 3/4 - 1
19-45411082-G-A c.109G>A p.E37K Missense 3/4 - 3
19-45411082-GAG-TGT c.109_111delinsTGT p.E37C Missense 3/4 - 1
19-45411083-A-C c.110A>C p.E37A Missense 3/4 - 1
19-45411085-T-G c.112T>G p.W38G Missense 3/4 - 1
19-45411085-TG-GA c.112_113delinsGA p.W38E Missense 3/4 - 1
19-45411086-G-C c.113G>C p.W38S Missense 3/4 - 1
19-45411086-G-T c.113G>T p.W38L Missense 3/4 - 1
19-45411088-C-A c.115C>A p.Q39K Missense 3/4 - 1
19-45411088-C-T c.115C>T p.Q39* Nonsense 3/4 - 2
19-45411089-A-G c.116A>G p.Q39R Missense 3/4 - 1
19-45411091-AG-GA c.118_119delinsGA p.S40D Missense 3/4 - 1
19-45411091-AG-GC c.118_119delinsGC p.S40A Missense 3/4 - 1
19-45411092-G-A c.119G>A p.S40N Missense 3/4 - 1
19-45411091-A-C c.118A>C p.S40R Missense 3/4 - 1
19-45411093-C-A c.120C>A p.S40R Missense 3/4 - 1
19-45411093-C-G c.120C>G p.S40R Missense 3/4 - 1
19-45411093-C-T c.120C>T p.S40= Synonymous 3/4 - 1
19-45411094-G-A c.121G>A p.G41S Missense 3/4 - 2
19-45411095-G-A c.122G>A p.G41D Missense 3/4 - 1
19-45411095-G-C c.122G>C p.G41A Missense 3/4 - 1
19-45411097-C-T c.124C>T p.Q42* Nonsense 3/4 - 5
19-45411100-C-T c.127C>T p.R43C Missense 3/4 - 19
19-45411101-G-A c.128G>A p.R43H Missense 3/4 - 3
19-45411101-GC-AA c.128_129delinsAA p.R43Q Missense 3/4 - 1
19-45411101-G-T c.128G>T p.R43L Missense 3/4 - 3
19-45411105-G-A c.132G>A p.W44* Nonsense 3/4 - 1
19-45411106-GAA-TGT c.133_135delinsTGT p.E45C Missense 3/4 - 1
19-45411106-GAA-TTT c.133_135delinsTTT p.E45F Missense 3/4 - 1
19-45411107-A-C c.134A>C p.E45A Missense 3/4 - 2
19-45411107-A-G c.134A>G p.E45G Missense 3/4 - 1
19-45411107-A-T c.134A>T p.E45V Missense 3/4 - 1
19-45411108-A-C c.135A>C p.E45D Missense 3/4 - 2
19-45411108-A-G c.135A>G p.E45= Synonymous 3/4 - 1
19-45411108-A-T c.135A>T p.E45D Missense 3/4 - 1
19-45411109-C-G c.136C>G p.L46V Missense 3/4 - 1
19-45411110-T-C c.137T>C p.L46P Missense 3/4 - 38
19-45411110-T-G c.137T>G p.L46R Missense 3/4 - 2
19-45411111-G-A c.138G>A p.L46= Synonymous 3/4 - 1
19-45411110-TG-T c.139del p.A47Hfs*32 Frameshift 3/4 - 1
19-45411112-G-A c.139G>A p.A47T Missense 3/4 - 1
19-45411113-C-G c.140C>G p.A47G Missense 3/4 - 1
19-45411115-C-A c.142C>A p.L48M Missense 3/4 - 1
19-45411115-C-G c.142C>G p.L48V Missense 3/4 - 2
19-45411116-T-G c.143T>G p.L48R Missense 3/4 - 1
19-45411115-C-T c.142C>T p.L48= Synonymous 3/4 - 1
19-45411117-G-A c.144G>A p.L48= Synonymous 3/4 - 1
19-45411117-G-C c.144G>C p.L48= Synonymous 3/4 - 1
19-45411117-G-T c.144G>T p.L48= Synonymous 3/4 - 1
19-45411118-G-C c.145G>C p.G49R Missense 3/4 - 1
19-45411120-T-A c.147T>A p.G49= Synonymous 3/4 - 1
19-45411120-T-C c.147T>C p.G49= Synonymous 3/4 - 1
19-45411120-T-G c.147T>G p.G49= Synonymous 3/4 - 1
19-45411121-C-A c.148C>A p.R50S Missense 3/4 - 2
19-45411121-C-G c.148C>G p.R50G Missense 3/4 - 3
19-45411121-CG-AC c.148_149delinsAC p.R50T Missense 3/4 - 1
19-45411121-CG-GC c.148_149delinsGC p.R50A Missense 3/4 - 1
19-45411121-C-T c.148C>T p.R50C Missense 3/4 - 3
19-45411122-G-A c.149G>A p.R50H Missense 3/4 - 9
19-45411122-G-C c.149G>C p.R50P Missense 3/4 - 3
19-45411122-GC-AA c.149_150delinsAA p.R50Q Missense 3/4 - 1
19-45411122-G-T c.149G>T p.R50L Missense 3/4 - 3
19-45411122-G-GC c.150dup p.F51Lfs*13 Frameshift 3/4 - 1
19-45411126-T-C c.153T>C p.F51= Synonymous 3/4 - 1
19-45411131-A-T c.158A>T p.D53V Missense 3/4 - 1
19-45411134-A-T c.161A>T p.Y54F Missense 3/4 - 1
19-45411136-C-A c.163C>A p.L55M Missense 3/4 - 11
19-45411136-C-G c.163C>G p.L55V Missense 3/4 - 1
19-45411137-T-C c.164T>C p.L55P Missense 3/4 - 2
19-45411139-C-T c.166C>T p.R56C Missense 3/4 - 1
19-45411140-G-A c.167G>A p.R56H Missense 3/4 - 4
19-45411141-C-G c.168C>G p.R56= Synonymous 3/4 - 1
19-45411145-G-A c.172G>A p.V58M Missense 3/4 - 2
19-45411145-G-C c.172G>C p.V58L Missense 3/4 - 1
19-45411145-G-T c.172G>T p.V58L Missense 3/4 - 1
19-45411147-G-A c.174G>A p.V58= Synonymous 3/4 - 1
19-45411150-G-C c.177G>C p.Q59H Missense 3/4 - 1
19-45411150-G-T c.177G>T p.Q59H Missense 3/4 - 1
19-45411151-A-G c.178A>G p.T60A Missense 3/4 - 8
19-45411152-C-A c.179C>A p.T60K Missense 3/4 - 1
19-45411153-A-C c.180A>C p.T60= Synonymous 3/4 - 1
19-45411153-A-G c.180A>G p.T60= Synonymous 3/4 - 1
19-45411153-A-T c.180A>T p.T60= Synonymous 3/4 - 1
19-45411153-A-AC c.181dup p.L61Pfs*3 Frameshift 3/4 - 1
19-45411157-T-C c.184T>C p.S62P Missense 3/4 - 1
19-45411157-TC-GA c.184_185inv p.S62D Missense 3/4 - 1
19-45411157-T-G c.184T>G p.S62A Missense 3/4 - 1
19-45411160-G-A c.187G>A p.E63K Missense 3/4 - 1
19-45411160-GAG-TGT c.187_189delinsTGT p.E63C Missense 3/4 - 1
19-45411160-GAG-TTT c.187_189delinsTTT p.E63F Missense 3/4 - 1
19-45411161-A-C c.188A>C p.E63A Missense 3/4 - 2
19-45411161-A-G c.188A>G p.E63G Missense 3/4 - 1
19-45411162-G-A c.189G>A p.E63= Synonymous 3/4 - 1
19-45411162-G-C c.189G>C p.E63D Missense 3/4 - 1
19-45411162-G-T c.189G>T p.E63D Missense 3/4 - 1
19-45411160-GAGC-G c.190_192del p.Q64del InFrameDeletion 3/4 - 1
19-45411164-A-T c.191A>T p.Q64L Missense 3/4 - 1
19-45411165-G-A c.192G>A p.Q64= Synonymous 3/4 - 4
19-45411165-G-C c.192G>C p.Q64H Missense 3/4 - 7
19-45411165-G-T c.192G>T p.Q64H Missense 3/4 - 2
19-45411166-G-A c.193G>A p.V65M Missense 3/4 - 1
19-45411166-GTG-TTT c.193_195delinsTTT p.V65F Missense 3/4 - 1
19-45411169-C-A c.196C>A p.Q66K Missense 3/4 - 1
19-45411171-G-T c.198G>T p.Q66H Missense 3/4 - 1
19-45411172-G-A c.199G>A p.E67K Missense 3/4 - 1
19-45411172-GAG-TGT c.199_201delinsTGT p.E67C Missense 3/4 - 1
19-45411175-G-A c.202G>A p.E68K Missense 3/4 - 1
19-45411175-GAG-TTT c.202_204delinsTTT p.E68F Missense 3/4 - 1
19-45411176-A-T c.203A>T p.E68V Missense 3/4 - 1
19-45411177-G-A c.204G>A p.E68= Synonymous 3/4 - 1
19-45411177-G-C c.204G>C p.E68D Missense 3/4 - 1
19-45411177-G-T c.204G>T p.E68D Missense 3/4 - 1
19-45411178-C-T c.205C>T p.L69= Synonymous 3/4 - 2
19-45411179-T-A c.206T>A p.L69Q Missense 3/4 - 3
19-45411179-T-C c.206T>C p.L69P Missense 3/4 - 2
19-45411181-C-T c.208C>T p.L70F Missense 3/4 - 1
19-45411182-T-A c.209T>A p.L70H Missense 3/4 - 1
19-45411186-C-A c.213C>A p.S71R Missense 3/4 - 1
19-45411186-C-T c.213C>T p.S71= Synonymous 3/4 - 1
19-45411188-C-T c.215C>T p.S72F Missense 3/4 - 1
19-45411190-CA-GC c.217_218delinsGC p.Q73A Missense 3/4 - 1
19-45411191-A-G c.218A>G p.Q73R Missense 3/4 - 1
19-45411193-G-A c.220G>A p.V74I Missense 3/4 - 2
19-45411193-GTC-ATG c.220_222delinsATG p.V74M Missense 3/4 - 1
19-45411194-T-C c.221T>C p.V74A Missense 3/4 - 3
19-45411196-A-G c.223A>G p.T75A Missense 3/4 - 1
19-45411200-A-G c.227A>G p.Q76R Missense 3/4 - 1
19-45411202-G-A c.229G>A p.E77K Missense 3/4 - 5
19-45411204-A-C c.231A>C p.E77D Missense 3/4 - 1
19-45411204-A-T c.231A>T p.E77D Missense 3/4 - 1
19-45411205-C-G c.232C>G p.L78V Missense 3/4 - 1
19-45411208-AG-TA c.235_236delinsTA p.R79* Nonsense 3/4 - 1
19-45411209-G-C c.236G>C p.R79T Missense 3/4 - 1
19-45411259-T-C c.236+50T>C - IntronicSNV - 3/3 2
19-45411284-C-G c.236+75C>G - IntronicSNV - 3/3 1
19-45411305-G-A c.236+96G>A - IntronicSNV - 3/3 1
19-45411321-G-A c.236+112G>A - IntronicSNV - 3/3 1
19-45411345-C-T c.236+136C>T - IntronicSNV - 3/3 1
19-45411493-G-A c.236+284G>A - IntronicSNV - 3/3 1
19-45411677-C-G c.237-113C>G - IntronicSNV - 3/3 3
19-45411677-C-T c.237-113C>T - IntronicSNV - 3/3 3
19-45411678-G-A c.237-112G>A - IntronicSNV - 3/3 2
19-45411698-G-GTC c.237-86_237-85dup - IntronicInsertion - 3/3 1
19-45411722-G-A c.237-68G>A - IntronicSNV - 3/3 1
19-45411785-C-T c.237-5C>T - IntronicSNV - 3/3 1
19-45411791-G-C c.238G>C p.A80P Missense 4/4 - 1
19-45411791-GCG-TGT c.238_240delinsTGT p.A80C Missense 4/4 - 1
19-45411791-GCG-TTT c.238_240delinsTTT p.A80F Missense 4/4 - 1
19-45411791-G-T c.238G>T p.A80S Missense 4/4 - 1
19-45411792-C-A c.239C>A p.A80E Missense 4/4 - 3
19-45411792-C-G c.239C>G p.A80G Missense 4/4 - 8
19-45411792-C-T c.239C>T p.A80V Missense 4/4 - 3
19-45411794-C-T c.241C>T p.L81= Synonymous 4/4 - 1
19-45411795-T-C c.242T>C p.L81P Missense 4/4 - 1
19-45411798-T-C c.245T>C p.M82T Missense 4/4 - 1
19-45411798-T-G c.245T>G p.M82R Missense 4/4 - 1
19-45411799-G-A c.246G>A p.M82I Missense 4/4 - 1
19-45411799-G-C c.246G>C p.M82I Missense 4/4 - 1
19-45411799-G-T c.246G>T p.M82I Missense 4/4 - 1
19-45411800-GA-TG c.247_248delinsTG p.D83C Missense 4/4 - 2
19-45411802-C-A c.249C>A p.D83E Missense 4/4 - 2
19-45411802-C-G c.249C>G p.D83E Missense 4/4 - 1
19-45411802-C-T c.249C>T p.D83= Synonymous 4/4 - 1
19-45411803-G-A c.250G>A p.E84K Missense 4/4 - 1
19-45411807-C-T c.254C>T p.T85I Missense 4/4 - 1
19-45411809-A-C c.256A>C p.M86L Missense 4/4 - 1
19-45411809-A-G c.256A>G p.M86V Missense 4/4 - 4
19-45411809-A-T c.256A>T p.M86L Missense 4/4 - 3
19-45411811-G-A c.258G>A p.M86I Missense 4/4 - 1
19-45411811-G-C c.258G>C p.M86I Missense 4/4 - 1
19-45411811-G-T c.258G>T p.M86I Missense 4/4 - 1
19-45411812-AA-CT c.259_260delinsCT p.K87L Missense 4/4 - 1
19-45411814-G-C c.261G>C p.K87N Missense 4/4 - 1
19-45411814-G-T c.261G>T p.K87N Missense 4/4 - 1
19-45411815-G-C c.262G>C p.E88Q Missense 4/4 - 1
19-45411819-T-C c.266T>C p.L89S Missense 4/4 - 2
19-45411821-A-G c.268A>G p.K90E Missense 4/4 - 2
19-45411823-G-C c.270G>C p.K90N Missense 4/4 - 3
19-45411823-G-T c.270G>T p.K90N Missense 4/4 - 1
19-45411824-G-A c.271G>A p.A91T Missense 4/4 - 1
19-45411825-C-G c.272C>G p.A91G Missense 4/4 - 1
19-45411825-C-T c.272C>T p.A91V Missense 4/4 - 1
19-45411826-C-A c.273C>A p.A91= Synonymous 4/4 - 1
19-45411826-C-G c.273C>G p.A91= Synonymous 4/4 - 1
19-45411826-C-T c.273C>T p.A91= Synonymous 4/4 - 1
19-45411828-A-G c.275A>G p.Y92C Missense 4/4 - 2
19-45411831-A-C c.278A>C p.K93T Missense 4/4 - 1
19-45411831-A-G c.278A>G p.K93R Missense 4/4 - 1
19-45411832-A-C c.279A>C p.K93N Missense 4/4 - 2
19-45411832-A-G c.279A>G p.K93= Synonymous 4/4 - 2
19-45411832-A-T c.279A>T p.K93N Missense 4/4 - 1
19-45411834-C-A c.281C>A p.S94* Nonsense 4/4 - 1
19-45411834-CG-AT c.281_282delinsAT p.S94Y Missense 4/4 - 1
19-45411839-C-T c.286C>T p.L96= Synonymous 4/4 - 2
19-45411840-T-G c.287T>G p.L96R Missense 4/4 - 1
19-45411841-G-A c.288G>A p.L96= Synonymous 4/4 - 1
19-45411841-G-C c.288G>C p.L96= Synonymous 4/4 - 1
19-45411841-G-T c.288G>T p.L96= Synonymous 4/4 - 1
19-45411844-G-A c.291G>A p.E97= Synonymous 4/4 - 1
19-45411848-C-A c.295C>A p.Q99K Missense 4/4 - 4
19-45411849-A-G c.296A>G p.Q99R Missense 4/4 - 3
19-45411851-CT-AA c.298_299delinsAA p.L100K Missense 4/4 - 1
19-45411851-CT-TC c.298_299delinsTC p.L100S Missense 4/4 - 2
19-45411852-T-C c.299T>C p.L100P Missense 4/4 - 1
19-45411853-G-A c.300G>A p.L100= Synonymous 4/4 - 2
19-45411857-C-A c.304C>A p.P102T Missense 4/4 - 2
19-45411857-C-G c.304C>G p.P102A Missense 4/4 - 2
19-45411857-C-T c.304C>T p.P102S Missense 4/4 - 1
19-45411858-C-A c.305C>A p.P102Q Missense 4/4 - 3
19-45411858-C-G c.305C>G p.P102R Missense 4/4 - 10
19-45411858-C-T c.305C>T p.P102L Missense 4/4 - 4
19-45411860-G-C c.307G>C p.V103L Missense 4/4 - 1
19-45411860-G-T c.307G>T p.V103L Missense 4/4 - 1
19-45411860-GTG-ATC c.307_309delinsATC p.V103I Missense 4/4 - 1
19-45411860-GTG-TGT c.307_309delinsTGT p.V103C Missense 4/4 - 2
19-45411863-G-A c.310G>A p.A104T Missense 4/4 - 1
19-45411866-G-A c.313G>A p.E105K Missense 4/4 - 1
19-45411870-A-C c.317A>C p.E106A Missense 4/4 - 1
19-45411871-G-C c.318G>C p.E106D Missense 4/4 - 1
19-45411874-G-A c.321G>A p.T107= Synonymous 4/4 - 1
19-45411875-C-T c.322C>T p.R108W Missense 4/4 - 2
19-45411876-GG-AT c.323_324delinsAT p.R108H Missense 4/4 - 1
19-45411878-G-C c.325G>C p.A109P Missense 4/4 - 1
19-45411878-G-T c.325G>T p.A109S Missense 4/4 - 1
19-45411879-C-CA c.327dup p.R110Tfs*55 Frameshift 4/4 - 1
19-45411880-A-C c.327A>C p.A109= Synonymous 4/4 - 1
19-45411881-CGG-TGT c.328_330delinsTGT p.R110C Missense 4/4 - 1
19-45411882-G-A c.329G>A p.R110Q Missense 4/4 - 2
19-45411883-G-A c.330G>A p.R110= Synonymous 4/4 - 1
19-45411884-C-A c.331C>A p.L111M Missense 4/4 - 2
19-45411885-T-A c.332T>A p.L111Q Missense 4/4 - 1
19-45411887-T-A c.334T>A p.S112T Missense 4/4 - 1
19-45411887-T-C c.334T>C p.S112P Missense 4/4 - 2
19-45411887-TCC-GAG c.334_336delinsGAG p.S112E Missense 4/4 - 1
19-45411887-T-G c.334T>G p.S112A Missense 4/4 - 3
19-45411887-T-TCAGAGTA c.335_336insAGAGTAC p.K113Efs*54 Frameshift 4/4 - 1
19-45411888-C-A c.335C>A p.S112Y Missense 4/4 - 2
19-45411888-C-G c.335C>G p.S112C Missense 4/4 - 1
19-45411888-C-T c.335C>T p.S112F Missense 4/4 - 1
19-45411890-A-ATTCG c.337_338insTTCG p.K113Ifs*53 Frameshift 4/4 - 1
19-45411890-A-G c.337A>G p.K113E Missense 4/4 - 3
19-45411892-G-GAGCAC c.339_340insAGCAC p.E114Sfs*139 Frameshift 4/4 - 1
19-45411891-A-AG c.340dup p.E114Gfs*51 Frameshift 4/4 - 1
19-45411893-G-A c.340G>A p.E114K Missense 4/4 - 2
19-45411897-T-G c.344T>G p.L115R Missense 4/4 - 1
19-45411901-G-C c.348G>C p.Q116H Missense 4/4 - 1
19-45411901-G-T c.348G>T p.Q116H Missense 4/4 - 1
19-45411902-G-A c.349G>A p.A117T Missense 4/4 - 6
19-45411903-C-A c.350C>A p.A117E Missense 4/4 - 1
19-45411903-C-T c.350C>T p.A117V Missense 4/4 - 3
19-45411904-G-A c.351G>A p.A117= Synonymous 4/4 - 2
19-45411904-G-C c.351G>C p.A117= Synonymous 4/4 - 1
19-45411904-G-T c.351G>T p.A117= Synonymous 4/4 - 1
19-45411906-C-G c.353C>G p.A118G Missense 4/4 - 5
19-45411906-C-T c.353C>T p.A118V Missense 4/4 - 1
19-45411907-G-A c.354G>A p.A118= Synonymous 4/4 - 1
19-45411907-G-C c.354G>C p.A118= Synonymous 4/4 - 1
19-45411907-G-T c.354G>T p.A118= Synonymous 4/4 - 1
19-45411909-A-C c.356A>C p.Q119P Missense 4/4 - 3
19-45411909-A-G c.356A>G p.Q119R Missense 4/4 - 2
19-45411910-G-C c.357G>C p.Q119H Missense 4/4 - 1
19-45411910-G-T c.357G>T p.Q119H Missense 4/4 - 1
19-45411911-G-A c.358G>A p.A120T Missense 4/4 - 1
19-45411911-G-T c.358G>T p.A120S Missense 4/4 - 1
19-45411912-C-A c.359C>A p.A120D Missense 4/4 - 1
19-45411914-CGG-GAC c.361_363delinsGAC p.R121D Missense 4/4 - 1
19-45411914-C-T c.361C>T p.R121W Missense 4/4 - 3
19-45411915-G-A c.362G>A p.R121Q Missense 4/4 - 1
19-45411917-C-A c.364C>A p.L122M Missense 4/4 - 1
19-45411917-C-G c.364C>G p.L122V Missense 4/4 - 1
19-45411920-G-C c.367G>C p.G123R Missense 4/4 - 1
19-45411924-C-T c.371C>T p.A124V Missense 4/4 - 5
19-45411930-T-C c.377T>C p.M126T Missense 4/4 - 1
19-45411931-G-A c.378G>A p.M126I Missense 4/4 - 1
19-45411931-G-C c.378G>C p.M126I Missense 4/4 - 1
19-45411931-G-T c.378G>T p.M126I Missense 4/4 - 1
19-45411935-G-A c.382G>A p.D128N Missense 4/4 - 2
19-45411937-C-T c.384C>T p.D128= Synonymous 4/4 - 1
19-45411938-G-A c.385G>A p.V129M Missense 4/4 - 4
19-45411938-G-C c.385G>C p.V129L Missense 4/4 - 1
19-45411938-GTG-TGT c.385_387delinsTGT p.V129C Missense 4/4 - 1
19-45411940-G-A c.387G>A p.V129= Synonymous 4/4 - 1
19-45411940-G-C c.387G>C p.V129= Synonymous 4/4 - 1
19-45411940-G-T c.387G>T p.V129= Synonymous 4/4 - 1
19-45411941-T-C c.388T>C p.C130R Missense 4/4 - 2149
19-45411944-G-T c.391G>T p.G131C Missense 4/4 - 1
19-45411945-G-A c.392G>A p.G131D Missense 4/4 - 1
19-45411945-G-T c.392G>T p.G131V Missense 4/4 - 1
19-45411947-C-A c.394C>A p.R132S Missense 4/4 - 4
19-45411947-CGC-GAG c.394_396delinsGAG p.R132E Missense 4/4 - 1
19-45411947-C-T c.394C>T p.R132C Missense 4/4 - 5
19-45411948-G-A c.395G>A p.R132H Missense 4/4 - 1
19-45411948-G-T c.395G>T p.R132L Missense 4/4 - 1
19-45411950-C-A c.397C>A p.L133M Missense 4/4 - 1
19-45411955-G-A c.402G>A p.V134= Synonymous 4/4 - 1
19-45411955-G-C c.402G>C p.V134= Synonymous 4/4 - 1
19-45411955-G-T c.402G>T p.V134= Synonymous 4/4 - 1
19-45411956-CA-GT c.403_404delinsGT p.Q135V Missense 4/4 - 1
19-45411957-A-G c.404A>G p.Q135R Missense 4/4 - 2
19-45411957-A-T c.404A>T p.Q135L Missense 4/4 - 1
19-45411959-GTAC-G c.406_408del p.Y136del InFrameDeletion 4/4 - 1
19-45411956-C-CAGTAG c.407_408insGAGTA p.Y136* Nonsense 4/4 - 1
19-45411960-A-G c.407A>G p.Y136C Missense 4/4 - 1
19-45411961-C-CCATTCGACGT c.409_410insATTCGACGTC p.R137Hfs*31 Frameshift 4/4 - 1
19-45411962-C-G c.409C>G p.R137G Missense 4/4 - 1
19-45411962-C-T c.409C>T p.R137C Missense 4/4 - 3
19-45411963-G-A c.410G>A p.R137H Missense 4/4 - 6
19-45411964-C-A c.411C>A p.R137= Synonymous 4/4 - 1
19-45411964-C-G c.411C>G p.R137= Synonymous 4/4 - 1
19-45411964-C-T c.411C>T p.R137= Synonymous 4/4 - 1
19-45411965-G-A c.412G>A p.G138S Missense 4/4 - 1
19-45411965-G-T c.412G>T p.G138C Missense 4/4 - 2
19-45411966-G-T c.413G>T p.G138V Missense 4/4 - 1
19-45411968-G-A c.415G>A p.E139K Missense 4/4 - 1
19-45411969-A-T c.416A>T p.E139V Missense 4/4 - 1
19-45411971-G-A c.418G>A p.V140M Missense 4/4 - 3
19-45411971-G-C c.418G>C p.V140L Missense 4/4 - 3
19-45411971-G-T c.418G>T p.V140L Missense 4/4 - 3
19-45411973-G-A c.420G>A p.V140= Synonymous 4/4 - 1
19-45411974-C-A c.421C>A p.Q141K Missense 4/4 - 2
19-45411975-A-G c.422A>G p.Q141R Missense 4/4 - 1
19-45411975-A-T c.422A>T p.Q141L Missense 4/4 - 1
19-45411977-G-A c.424G>A p.A142T Missense 4/4 - 1
19-45411978-C-T c.425C>T p.A142V Missense 4/4 - 1
19-45411980-A-T c.427A>T p.M143L Missense 4/4 - 1
19-45411981-T-C c.428T>C p.M143T Missense 4/4 - 1
19-45411982-G-A c.429G>A p.M143I Missense 4/4 - 1
19-45411982-G-C c.429G>C p.M143I Missense 4/4 - 1
19-45411982-G-T c.429G>T p.M143I Missense 4/4 - 1
19-45411983-C-A c.430C>A p.L144I Missense 4/4 - 1
19-45411983-C-T c.430C>T p.L144F Missense 4/4 - 1
19-45411983-CT-AG c.430_431inv p.L144S Missense 4/4 - 1
19-45411986-G-A c.433G>A p.G145S Missense 4/4 - 3
19-45411986-G-C c.433G>C p.G145R Missense 4/4 - 4
19-45411986-G-T c.433G>T p.G145C Missense 4/4 - 1
19-45411984-TCGGCCAGAGCACCGAGGAGCTGCGGGTG-T c.434_461del p.G145Afs*97 Frameshift 4/4 - 1
19-45411987-G-A c.434G>A p.G145D Missense 4/4 - 13
19-45411987-G-C c.434G>C p.G145A Missense 4/4 - 4
19-45411988-C-A c.435C>A p.G145= Synonymous 4/4 - 2
19-45411988-C-G c.435C>G p.G145= Synonymous 4/4 - 1
19-45411988-C-T c.435C>T p.G145= Synonymous 4/4 - 1
19-45411991-G-A c.438G>A p.Q146= Synonymous 4/4 - 1
19-45411994-C-CAGCTT c.442_443insGCTTA p.T148Sfs*105 Frameshift 4/4 - 1
19-45411995-AC-TG c.442_443delinsTG p.T148C Missense 4/4 - 1
19-45411996-CC-TG c.443_444delinsTG p.T148M Missense 4/4 - 2
19-45411996-C-T c.443C>T p.T148I Missense 4/4 - 1
19-45411997-C-A c.444C>A p.T148= Synonymous 4/4 - 1
19-45411997-C-G c.444C>G p.T148= Synonymous 4/4 - 1
19-45411997-C-T c.444C>T p.T148= Synonymous 4/4 - 2
19-45411998-G-A c.445G>A p.E149K Missense 4/4 - 1
19-45412002-A-G c.449A>G p.E150G Missense 4/4 - 1
19-45412004-C-A c.451C>A p.L151M Missense 4/4 - 2
19-45412004-C-T c.451C>T p.L151= Synonymous 4/4 - 1
19-45412007-C-T c.454C>T p.R152W Missense 4/4 - 4
19-45412008-G-A c.455G>A p.R152Q Missense 4/4 - 10
19-45412008-G-C c.455G>C p.R152P Missense 4/4 - 4
19-45412008-GG-AT c.455_456delinsAT p.R152H Missense 4/4 - 1
19-45412008-G-T c.455G>T p.R152L Missense 4/4 - 4
19-45412010-G-A c.457G>A p.V153M Missense 4/4 - 1
19-45412013-C-A c.460C>A p.R154S Missense 4/4 - 18
19-45412013-C-T c.460C>T p.R154C Missense 4/4 - 10
19-45412014-G-A c.461G>A p.R154H Missense 4/4 - 1
19-45412014-G-T c.461G>T p.R154L Missense 4/4 - 3
19-45412016-C-G c.463C>G p.L155V Missense 4/4 - 1
19-45412016-C-T c.463C>T p.L155F Missense 4/4 - 2
19-45412017-T-C c.464T>C p.L155P Missense 4/4 - 2
19-45412022-T-A c.469T>A p.S157T Missense 4/4 - 1
19-45412023-C-T c.470C>T p.S157F Missense 4/4 - 1
19-45412025-C-T c.472C>T p.H158Y Missense 4/4 - 2
19-45412026-A-C c.473A>C p.H158P Missense 4/4 - 1
19-45412027-C-A c.474C>A p.H158Q Missense 4/4 - 1
19-45412027-C-G c.474C>G p.H158Q Missense 4/4 - 1
19-45412028-C-T c.475C>T p.L159= Synonymous 4/4 - 1
19-45412029-T-C c.476T>C p.L159P Missense 4/4 - 2
19-45412029-T-G c.476T>G p.L159R Missense 4/4 - 1
19-45412031-C-G c.478C>G p.R160G Missense 4/4 - 3
19-45412031-C-T c.478C>T p.R160C Missense 4/4 - 6
19-45412032-G-A c.479G>A p.R160H Missense 4/4 - 1
19-45412027-CCTGCGCAAG-C c.480_488del p.L162_K164del InFrameDeletion 4/4 - 3
19-45412033-C-A c.480C>A p.R160= Synonymous 4/4 - 1
19-45412033-C-G c.480C>G p.R160= Synonymous 4/4 - 1
19-45412033-C-T c.480C>T p.R160= Synonymous 4/4 - 1
19-45412036-G-T c.483G>T p.K161N Missense 4/4 - 1
19-45412037-C-G c.484C>G p.L162V Missense 4/4 - 14
19-45412033-CAAGCTGCGT-C c.485_493del p.L162_K164del InFrameDeletion 4/4 - 1
19-45412040-CGT-TGA c.487_489delinsTGA p.R163* Nonsense 4/4 - 1
19-45412040-C-T c.487C>T p.R163C Missense 4/4 - 41
19-45412041-G-A c.488G>A p.R163H Missense 4/4 - 6
19-45412041-G-C c.488G>C p.R163P Missense 4/4 - 11
19-45412043-A-C c.490A>C p.K164Q Missense 4/4 - 8
19-45412043-A-G c.490A>G p.K164E Missense 4/4 - 8
19-45412047-G-A c.494G>A p.R165Q Missense 4/4 - 2
19-45412047-G-C c.494G>C p.R165P Missense 4/4 - 4
19-45412050-T-A c.497T>A p.L166H Missense 4/4 - 1
19-45412050-T-C c.497T>C p.L166P Missense 4/4 - 13
19-45412048-GCTC-G c.500_502del p.L167del InFrameDeletion 4/4 - 49
19-45412052-C-CTTGA c.500_501insTGAT p.R168Dfs*6 Frameshift 4/4 - 1
19-45412055-C-G c.502C>G p.R168G Missense 4/4 - 1
19-45412055-CGC-TGA c.502_504delinsTGA p.R168* Nonsense 4/4 - 1
19-45412055-C-T c.502C>T p.R168C Missense 4/4 - 4
19-45412056-G-A c.503G>A p.R168H Missense 4/4 - 2
19-45412056-G-C c.503G>C p.R168P Missense 4/4 - 2
19-45412057-C-A c.504C>A p.R168= Synonymous 4/4 - 1
19-45412057-C-G c.504C>G p.R168= Synonymous 4/4 - 1
19-45412057-C-T c.504C>T p.R168= Synonymous 4/4 - 1
19-45412058-G-A c.505G>A p.D169N Missense 4/4 - 2
19-45412058-G-T c.505G>T p.D169Y Missense 4/4 - 1
19-45412061-G-C c.508G>C p.A170P Missense 4/4 - 2
19-45412062-C-A c.509C>A p.A170D Missense 4/4 - 1
19-45412062-C-T c.509C>T p.A170V Missense 4/4 - 1
19-45412061-GC-G c.510del p.D171Mfs*80 Frameshift 4/4 - 1
19-45412064-G-A c.511G>A p.D171N Missense 4/4 - 2
19-45412064-G-C c.511G>C p.D171H Missense 4/4 - 1
19-45412064-G-T c.511G>T p.D171Y Missense 4/4 - 1
19-45412066-T-A c.513T>A p.D171E Missense 4/4 - 1
19-45412066-T-G c.513T>G p.D171E Missense 4/4 - 1
19-45412070-C-T c.517C>T p.L173= Synonymous 4/4 - 1
19-45412070-CTG-ATC c.517_519delinsATC p.L173I Missense 4/4 - 1
19-45412070-CTG-TTT c.517_519delinsTTT p.L173F Missense 4/4 - 1
19-45412071-T-C c.518T>C p.L173P Missense 4/4 - 10
19-45412071-T-G c.518T>G p.L173R Missense 4/4 - 1
19-45412073-C-A c.520C>A p.Q174K Missense 4/4 - 1
19-45412072-GCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGC-G c.521_574del p.Q174_G191del InFrameDeletion 4/4 - 1
19-45412075-G-A c.522G>A p.Q174= Synonymous 4/4 - 1
19-45412076-A-T c.523A>T p.K175* Nonsense 4/4 - 1
19-45412078-G-A c.525G>A p.K175= Synonymous 4/4 - 1
19-45412079-C-A c.526C>A p.R176S Missense 4/4 - 1
19-45412079-C-G c.526C>G p.R176G Missense 4/4 - 1
19-45412079-CGC-GAG c.526_528delinsGAG p.R176E Missense 4/4 - 1
19-45412079-C-T c.526C>T p.R176C Missense 4/4 - 1972
19-45412080-G-C c.527G>C p.R176P Missense 4/4 - 4
19-45412081-C-A c.528C>A p.R176= Synonymous 4/4 - 1
19-45412081-C-G c.528C>G p.R176= Synonymous 4/4 - 1
19-45412081-C-T c.528C>T p.R176= Synonymous 4/4 - 1
19-45412082-C-T c.529C>T p.L177= Synonymous 4/4 - 2
19-45412083-T-C c.530T>C p.L177P Missense 4/4 - 1
19-45412085-G-A c.532G>A p.A178T Missense 4/4 - 1
19-45412088-G-C c.535G>C p.V179L Missense 4/4 - 1
19-45412088-G-T c.535G>T p.V179L Missense 4/4 - 1
19-45412089-T-C c.536T>C p.V179A Missense 4/4 - 2
19-45412091-T-C c.538T>C p.Y180H Missense 4/4 - 1
19-45412094-C-G c.541C>G p.Q181E Missense 4/4 - 1
19-45412096-G-A c.543G>A p.Q181= Synonymous 4/4 - 1
19-45412096-G-C c.543G>C p.Q181H Missense 4/4 - 1
19-45412096-G-T c.543G>T p.Q181H Missense 4/4 - 1
19-45412098-C-G c.545C>G p.A182G Missense 4/4 - 2
19-45412100-G-A c.547G>A p.G183R Missense 4/4 - 2
19-45412101-G-T c.548G>T p.G183V Missense 4/4 - 2
19-45412102-G-C c.549G>C p.G183= Synonymous 4/4 - 1
19-45412103-G-A c.550G>A p.A184T Missense 4/4 - 1
19-45412104-C-A c.551C>A p.A184D Missense 4/4 - 1
19-45412107-G-A c.554G>A p.R185H Missense 4/4 - 1
19-45412107-G-T c.554G>T p.R185L Missense 4/4 - 1
19-45412108-C-G c.555C>G p.R185= Synonymous 4/4 - 1
19-45412110-A-C c.557A>C p.E186A Missense 4/4 - 1
19-45412111-G-C c.558G>C p.E186D Missense 4/4 - 1
19-45412114-C-A c.561C>A p.G187= Synonymous 4/4 - 1
19-45412114-C-G c.561C>G p.G187= Synonymous 4/4 - 1
19-45412114-C-T c.561C>T p.G187= Synonymous 4/4 - 1
19-45412116-C-G c.563C>G p.A188G Missense 4/4 - 1
19-45412118-G-A c.565G>A p.E189K Missense 4/4 - 2
19-45412118-G-C c.565G>C p.E189Q Missense 4/4 - 1
19-45412121-C-A c.568C>A p.R190S Missense 4/4 - 1
19-45412122-G-A c.569G>A p.R190H Missense 4/4 - 1
19-45412123-C-T c.570C>T p.R190= Synonymous 4/4 - 1
19-45412124-GGC-TGA c.571_573delinsTGA p.G191* Nonsense 4/4 - 1
19-45412125-GC-AG c.572_573delinsAG p.G191E Missense 4/4 - 1
19-45412125-GCCT-G c.574_576del p.L192del InFrameDeletion 4/4 - 1
19-45412128-T-C c.575T>C p.L192P Missense 4/4 - 1
19-45412131-G-A c.578G>A p.S193N Missense 4/4 - 1
19-45412132-C-G c.579C>G p.S193R Missense 4/4 - 1
19-45412136-A-G c.583A>G p.I195V Missense 4/4 - 1
19-45412139-C-T c.586C>T p.R196C Missense 4/4 - 1
19-45412141-C-A c.588C>A p.R196= Synonymous 4/4 - 1
19-45412141-C-G c.588C>G p.R196= Synonymous 4/4 - 1
19-45412141-C-T c.588C>T p.R196= Synonymous 4/4 - 1
19-45412142-G-C c.589G>C p.E197Q Missense 4/4 - 1
19-45412145-C-T c.592C>T p.R198C Missense 4/4 - 1
19-45412148-CTG-TTT c.595_597delinsTTT p.L199F Missense 4/4 - 1
19-45412149-T-C c.596T>C p.L199P Missense 4/4 - 1
19-45412151-GGG-TGT c.598_600delinsTGT p.G200C Missense 4/4 - 1
19-45412153-G-A c.600G>A p.G200= Synonymous 4/4 - 2
19-45412153-G-C c.600G>C p.G200= Synonymous 4/4 - 1
19-45412153-G-T c.600G>T p.G200= Synonymous 4/4 - 1
19-45412156-C-A c.603C>A p.P201= Synonymous 4/4 - 1
19-45412156-C-G c.603C>G p.P201= Synonymous 4/4 - 1
19-45412156-C-T c.603C>T p.P201= Synonymous 4/4 - 2
19-45412157-C-T c.604C>T p.L202= Synonymous 4/4 - 2
19-45412157-CTG-TTT c.604_606delinsTTT p.L202F Missense 4/4 - 1
19-45412167-A-G c.614A>G p.Q205R Missense 4/4 - 1
19-45412168-G-C c.615G>C p.Q205H Missense 4/4 - 1
19-45412168-G-T c.615G>T p.Q205H Missense 4/4 - 1
19-45412170-G-A c.617G>A p.G206D Missense 4/4 - 3
19-45412170-G-C c.617G>C p.G206A Missense 4/4 - 10
19-45412170-G-T c.617G>T p.G206V Missense 4/4 - 1
19-45412171-C-T c.618C>T p.G206= Synonymous 4/4 - 1
19-45412172-C-A c.619C>A p.R207S Missense 4/4 - 1
19-45412172-C-T c.619C>T p.R207C Missense 4/4 - 2
19-45412173-G-A c.620G>A p.R207H Missense 4/4 - 1
19-45412175-G-C c.622G>C p.V208L Missense 4/4 - 1
19-45412175-G-T c.622G>T p.V208L Missense 4/4 - 1
19-45412175-GTG-ATC c.622_624delinsATC p.V208I Missense 4/4 - 1
19-45412177-G-A c.624G>A p.V208= Synonymous 4/4 - 1
19-45412180-G-A c.627G>A p.R209= Synonymous 4/4 - 1
19-45412181-G-T c.628G>T p.A210S Missense 4/4 - 1
19-45412184-G-A c.631G>A p.A211T Missense 4/4 - 2
19-45412186-C-T c.633C>T p.A211= Synonymous 4/4 - 1
19-45412187-A-C c.634A>C p.T212P Missense 4/4 - 1
19-45412187-ACT-GAG c.634_636delinsGAG p.T212E Missense 4/4 - 1
19-45412191-T-A c.638T>A p.V213E Missense 4/4 - 1
19-45412191-T-C c.638T>C p.V213A Missense 4/4 - 1
19-45412191-T-G c.638T>G p.V213G Missense 4/4 - 1
19-45412192-G-T c.639G>T p.V213= Synonymous 4/4 - 1
19-45412193-G-A c.640G>A p.G214S Missense 4/4 - 1
19-45412193-G-C c.640G>C p.G214R Missense 4/4 - 3
19-45412194-G-C c.641G>C p.G214A Missense 4/4 - 1
19-45412195-C-A c.642C>A p.G214= Synonymous 4/4 - 1
19-45412196-TC-AA c.643_644delinsAA p.S215N Missense 4/4 - 2
19-45412197-C-G c.644C>G p.S215C Missense 4/4 - 5
19-45412197-C-T c.644C>T p.S215F Missense 4/4 - 2
19-45412198-C-A c.645C>A p.S215= Synonymous 4/4 - 1
19-45412198-C-G c.645C>G p.S215= Synonymous 4/4 - 1
19-45412198-C-T c.645C>T p.S215= Synonymous 4/4 - 1
19-45412203-C-T c.650C>T p.A217V Missense 4/4 - 2
19-45412204-C-A c.651C>A p.A217= Synonymous 4/4 - 2
19-45412204-C-G c.651C>G p.A217= Synonymous 4/4 - 4
19-45412204-C-T c.651C>T p.A217= Synonymous 4/4 - 4
19-45412205-G-A c.652G>A p.G218S Missense 4/4 - 1
19-45412205-G-T c.652G>T p.G218C Missense 4/4 - 1
19-45412210-G-C c.657G>C p.Q219H Missense 4/4 - 1
19-45412217-C-A c.664C>A p.Q222K Missense 4/4 - 2
19-45412217-C-T c.664C>T p.Q222* Nonsense 4/4 - 1
19-45412219-G-C c.666G>C p.Q222H Missense 4/4 - 4
19-45412219-G-T c.666G>T p.Q222H Missense 4/4 - 3
19-45412220-G-A c.667G>A p.E223K Missense 4/4 - 2
19-45412223-CGG-TGT c.670_672delinsTGT p.R224C Missense 4/4 - 1
19-45412223-CG-TA c.670_671delinsTA p.R224* Nonsense 4/4 - 1
19-45412223-C-T c.670C>T p.R224W Missense 4/4 - 1
19-45412224-G-A c.671G>A p.R224Q Missense 4/4 - 2
19-45412226-G-A c.673G>A p.A225T Missense 4/4 - 2
19-45412234-C-A c.681C>A p.A227= Synonymous 4/4 - 2
19-45412234-C-G c.681C>G p.A227= Synonymous 4/4 - 2
19-45412234-C-T c.681C>T p.A227= Synonymous 4/4 - 2
19-45412236-G-A c.683G>A p.W228* Nonsense 4/4 - 4
19-45412238-G-C c.685G>C p.G229R Missense 4/4 - 4
19-45412238-G-T c.685G>T p.G229C Missense 4/4 - 1
19-45412240-C-A c.687C>A p.G229= Synonymous 4/4 - 1
19-45412240-C-G c.687C>G p.G229= Synonymous 4/4 - 1
19-45412240-C-T c.687C>T p.G229= Synonymous 4/4 - 1
19-45412241-G-A c.688G>A p.E230K Missense 4/4 - 1
19-45412241-G-T c.688G>T p.E230* Nonsense 4/4 - 1
19-45412244-C-G c.691C>G p.R231G Missense 4/4 - 2
19-45412244-CGG-TGT c.691_693delinsTGT p.R231C Missense 4/4 - 1
19-45412247-C-T c.694C>T p.L232= Synonymous 4/4 - 2
19-45412248-T-C c.695T>C p.L232P Missense 4/4 - 1
19-45412250-CGC-TGG c.697_699delinsTGG p.R233W Missense 4/4 - 1
19-45412250-C-T c.697C>T p.R233C Missense 4/4 - 1
19-45412251-G-A c.698G>A p.R233H Missense 4/4 - 1
19-45412253-G-A c.700G>A p.A234T Missense 4/4 - 2
19-45412256-C-T c.703C>T p.R235W Missense 4/4 - 3
19-45412257-G-A c.704G>A p.R235Q Missense 4/4 - 1
19-45412262-G-A c.709G>A p.E237K Missense 4/4 - 1
19-45412263-A-G c.710A>G p.E237G Missense 4/4 - 1
19-45412265-G-A c.712G>A p.E238K Missense 4/4 - 1
19-45412267-G-A c.714G>A p.E238= Synonymous 4/4 - 1
19-45412268-A-G c.715A>G p.M239V Missense 4/4 - 1
19-45412269-T-A c.716T>A p.M239K Missense 4/4 - 2
19-45412269-T-C c.716T>C p.M239T Missense 4/4 - 1
19-45412270-G-A c.717G>A p.M239I Missense 4/4 - 5
19-45412270-G-C c.717G>C p.M239I Missense 4/4 - 4
19-45412270-G-T c.717G>T p.M239I Missense 4/4 - 4
19-45412271-G-C c.718G>C p.G240R Missense 4/4 - 1
19-45412274-AG-CC c.721_722delinsCC p.S241P Missense 4/4 - 2
19-45412277-C-T c.724C>T p.R242W Missense 4/4 - 1
19-45412278-G-A c.725G>A p.R242Q Missense 4/4 - 6
19-45412278-G-C c.725G>C p.R242P Missense 4/4 - 1
19-45412278-GG-AT c.725_726delinsAT p.R242H Missense 4/4 - 1
19-45412281-C-T c.728C>T p.T243I Missense 4/4 - 1
19-45412282-C-T c.729C>T p.T243= Synonymous 4/4 - 1
19-45412284-GC-AA c.731_732delinsAA p.R244Q Missense 4/4 - 1
19-45412289-C-A c.736C>A p.R246S Missense 4/4 - 3
19-45412289-CG-AT c.736_737delinsAT p.R246I Missense 4/4 - 1
19-45412289-C-T c.736C>T p.R246C Missense 4/4 - 7
19-45412295-G-A c.742G>A p.D248N Missense 4/4 - 1
19-45412295-G-T c.742G>T p.D248Y Missense 4/4 - 1
19-45412297-C-T c.744C>T p.D248= Synonymous 4/4 - 1
19-45412298-G-A c.745G>A p.E249K Missense 4/4 - 3
19-45412298-G-C c.745G>C p.E249Q Missense 4/4 - 1
19-45412298-G-T c.745G>T p.E249* Nonsense 4/4 - 1
19-45412299-A-G c.746A>G p.E249G Missense 4/4 - 1
19-45412300-G-A c.747G>A p.E249= Synonymous 4/4 - 1
19-45412301-G-A c.748G>A p.V250M Missense 4/4 - 1
19-45412302-T-C c.749T>C p.V250A Missense 4/4 - 1
19-45412303-G-A c.750G>A p.V250= Synonymous 4/4 - 1
19-45412306-G-A c.753G>A p.K251= Synonymous 4/4 - 1
19-45412306-G-C c.753G>C p.K251N Missense 4/4 - 2
19-45412306-G-T c.753G>T p.K251N Missense 4/4 - 2
19-45412307-G-A c.754G>A p.E252K Missense 4/4 - 1
19-45412308-A-T c.755A>T p.E252V Missense 4/4 - 1
19-45412310-C-T c.757C>T p.Q253* Nonsense 4/4 - 1
19-45412313-G-C c.760G>C p.V254L Missense 4/4 - 1
19-45412313-G-T c.760G>T p.V254L Missense 4/4 - 1
19-45412313-GT-AC c.760_761inv p.V254T Missense 4/4 - 1
19-45412314-T-A c.761T>A p.V254E Missense 4/4 - 17
19-45412317-C-T c.764C>T p.A255V Missense 4/4 - 2
19-45412319-G-C c.766G>C p.E256Q Missense 4/4 - 1
19-45412320-A-G c.767A>G p.E256G Missense 4/4 - 1
19-45412320-A-T c.767A>T p.E256V Missense 4/4 - 1
19-45412325-C-T c.772C>T p.R258C Missense 4/4 - 3
19-45412326-G-A c.773G>A p.R258H Missense 4/4 - 4
19-45412326-GC-AA c.773_774delinsAA p.R258Q Missense 4/4 - 3
19-45412328-G-A c.775G>A p.A259T Missense 4/4 - 1
19-45412328-G-C c.775G>C p.A259P Missense 4/4 - 1
19-45412329-C-T c.776C>T p.A259V Missense 4/4 - 1
19-45412331-AA-GT c.778_779delinsGT p.K260V Missense 4/4 - 1
19-45412333-G-A c.780G>A p.K260= Synonymous 4/4 - 3
19-45412334-CT-GC c.781_782delinsGC p.L261A Missense 4/4 - 1
19-45412337-G-A c.784G>A p.E262K Missense 4/4 - 11
19-45412337-G-T c.784G>T p.E262* Nonsense 4/4 - 1
19-45412339-G-A c.786G>A p.E262= Synonymous 4/4 - 1
19-45412340-G-A c.787G>A p.E263K Missense 4/4 - 11
19-45412346-G-A c.793G>A p.A265T Missense 4/4 - 1
19-45412352-C-G c.799C>G p.Q267E Missense 4/4 - 1
19-45412356-T-C c.803T>C p.I268T Missense 4/4 - 1
19-45412358-C-G c.805C>G p.R269G Missense 4/4 - 15
19-45412358-CGC-TGG c.805_807delinsTGG p.R269W Missense 4/4 - 1
19-45412358-C-T c.805C>T p.R269C Missense 4/4 - 1
19-45412359-G-A c.806G>A p.R269H Missense 4/4 - 4
19-45412361-CT-GA c.808_809delinsGA p.L270E Missense 4/4 - 3
19-45412363-G-A c.810G>A p.L270= Synonymous 4/4 - 1
19-45412366-G-C c.813G>C p.Q271H Missense 4/4 - 1
19-45412366-G-T c.813G>T p.Q271H Missense 4/4 - 1
19-45412367-G-T c.814G>T p.A272S Missense 4/4 - 1
19-45412370-G-C c.817G>C p.E273Q Missense 4/4 - 1
19-45412371-A-G c.818A>G p.E273G Missense 4/4 - 1
19-45412373-G-T c.820G>T p.A274S Missense 4/4 - 1
19-45412376-T-C c.823T>C p.F275L Missense 4/4 - 1
19-45412385-C-G c.832C>G p.R278G Missense 4/4 - 1
19-45412385-CG-AC c.832_833delinsAC p.R278T Missense 4/4 - 1
19-45412385-CG-AT c.832_833delinsAT p.R278I Missense 4/4 - 6
19-45412385-CGC-AAG c.832_834delinsAAG p.R278K Missense 4/4 - 1
19-45412385-CGC-TGA c.832_834delinsTGA p.R278* Nonsense 4/4 - 1
19-45412385-C-T c.832C>T p.R278C Missense 4/4 - 1
19-45412386-G-A c.833G>A p.R278H Missense 4/4 - 1
19-45412386-G-C c.833G>C p.R278P Missense 4/4 - 1
19-45412386-G-T c.833G>T p.R278L Missense 4/4 - 2
19-45412389-T-C c.836T>C p.L279P Missense 4/4 - 2
19-45412389-TC-AA c.836_837delinsAA p.L279Q Missense 4/4 - 7
19-45412391-AA-GC c.838_839delinsGC p.K280A Missense 4/4 - 1
19-45412391-A-C c.838A>C p.K280Q Missense 4/4 - 2
19-45412390-CAAG-C c.839_841del p.K280del InFrameDeletion 4/4 - 1
19-45412392-A-C c.839A>C p.K280T Missense 4/4 - 1
19-45412392-A-G c.839A>G p.K280R Missense 4/4 - 1
19-45412394-A-G c.841A>G p.S281G Missense 4/4 - 1
19-45412395-G-C c.842G>C p.S281T Missense 4/4 - 1
19-45412398-G-A c.845G>A p.W282* Nonsense 4/4 - 2
19-45412399-G-C c.846G>C p.W282C Missense 4/4 - 1
19-45412402-C-T c.849C>T p.F283= Synonymous 4/4 - 1
19-45412404-A-G c.851A>G p.E284G Missense 4/4 - 1
19-45412405-G-T c.852G>T p.E284D Missense 4/4 - 1
19-45412407-C-T c.854C>T p.P285L Missense 4/4 - 2
19-45412408-C-A c.855C>A p.P285= Synonymous 4/4 - 1
19-45412408-C-G c.855C>G p.P285= Synonymous 4/4 - 1
19-45412409-C-G c.856C>G p.L286V Missense 4/4 - 16
19-45412410-T-C c.857T>C p.L286P Missense 4/4 - 1
19-45412413-T-A c.860T>A p.V287E Missense 4/4 - 13
19-45412413-T-G c.860T>G p.V287G Missense 4/4 - 1
19-45412415-G-A c.862G>A p.E288K Missense 4/4 - 1
19-45412425-A-T c.872A>T p.Q291L Missense 4/4 - 1
19-45412427-C-A c.874C>A p.R292S Missense 4/4 - 1
19-45412427-C-T c.874C>T p.R292C Missense 4/4 - 1
19-45412428-G-A c.875G>A p.R292H Missense 4/4 - 5
19-45412428-G-C c.875G>C p.R292P Missense 4/4 - 1
19-45412428-G-T c.875G>T p.R292L Missense 4/4 - 1
19-45412429-C-T c.876C>T p.R292= Synonymous 4/4 - 2
19-45412435-G-A c.882G>A p.W294* Nonsense 4/4 - 2
19-45412435-G-T c.882G>T p.W294C Missense 4/4 - 3
19-45412438-C-A c.885C>A p.A295= Synonymous 4/4 - 1
19-45412438-C-G c.885C>G p.A295= Synonymous 4/4 - 1
19-45412438-C-T c.885C>T p.A295= Synonymous 4/4 - 2
19-45412439-G-A c.886G>A p.G296R Missense 4/4 - 2
19-45412439-G-T c.886G>T p.G296W Missense 4/4 - 1
19-45412440-G-A c.887G>A p.G296E Missense 4/4 - 1
19-45412440-G-C c.887G>C p.G296A Missense 4/4 - 2
19-45412443-T-C c.890T>C p.L297P Missense 4/4 - 2
19-45412445-G-C c.892G>C p.V298L Missense 4/4 - 1
19-45412451-A-G c.898A>G p.K300E Missense 4/4 - 1
19-45412452-A-G c.899A>G p.K300R Missense 4/4 - 1
19-45412453-G-C c.900G>C p.K300N Missense 4/4 - 2
19-45412454-GTG-ATC c.901_903delinsATC p.V301I Missense 4/4 - 1
19-45412459-G-C c.906G>C p.Q302H Missense 4/4 - 1
19-45412459-G-T c.906G>T p.Q302H Missense 4/4 - 1
19-45412460-G-A c.907G>A p.A303T Missense 4/4 - 1
19-45412461-C-T c.908C>T p.A303V Missense 4/4 - 1
19-45412464-CC-AA c.911_912delinsAA p.A304E Missense 4/4 - 1
19-45412464-CC-AG c.911_912delinsAG p.A304E Missense 4/4 - 1
19-45412464-C-T c.911C>T p.A304V Missense 4/4 - 1
19-45412466-G-A c.913G>A p.V305M Missense 4/4 - 1
19-45412466-GTG-ATC c.913_915delinsATC p.V305I Missense 4/4 - 1
19-45412467-T-G c.914T>G p.V305G Missense 4/4 - 1
19-45412470-G-A c.917G>A p.G306D Missense 4/4 - 1
19-45412475-AGC-TGA c.922_924delinsTGA p.S308* Nonsense 4/4 - 1
19-45412476-GCGCCGCC-G c.925_931del p.A309Lfs*? Frameshift 4/4 - 1
19-45412478-G-A c.925G>A p.A309T Missense 4/4 - 3
19-45412483-C-A c.930C>A p.A310= Synonymous 4/4 - 1
19-45412483-C-G c.930C>G p.A310= Synonymous 4/4 - 1
19-45412483-C-T c.930C>T p.A310= Synonymous 4/4 - 1
19-45412484-C-G c.931C>G p.P311A Missense 4/4 - 1
19-45412488-T-C c.935T>C p.V312A Missense 4/4 - 1
19-45412493-A-C c.940A>C p.S314R Missense 4/4 - 7
19-45412495-C-A c.942C>A p.S314R Missense 4/4 - 3
19-45412495-C-G c.942C>G p.S314R Missense 4/4 - 2
19-45412499-A-C c.946A>C p.N316H Missense 4/4 - 1
19-45412501-T-A c.948T>A p.N316K Missense 4/4 - 1
19-45412501-T-C c.948T>C p.N316= Synonymous 4/4 - 1
19-45412501-T-G c.948T>G p.N316K Missense 4/4 - 1
19-45412532-C-T c.*25C>T - 3-UTRSNV 4/4 - 6
19-45412599-C-G c.*92C>G - 3-UTRSNV 4/4 - 1
19-45412599-C-T c.*92C>T - 3-UTRSNV 4/4 - 1