LUC7L

LUC7L LUC7 like

Annotation transcript: NM_201412.3

407 unique variant annotations were identified in 242 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
16-239203-C-A c.1110G>T p.E370D Missense 10/10 - 2
16-239205-C-T c.1108G>A p.E370K Missense 10/10 - 1
16-239209-G-A c.1104C>T p.A368= Synonymous 10/10 - 1
16-239215-C-A c.1098G>T p.K366N Missense 10/10 - 2
16-239215-C-G c.1098G>C p.K366N Missense 10/10 - 4
16-239218-C-A c.1095G>T p.E365D Missense 10/10 - 1
16-239218-C-G c.1095G>C p.E365D Missense 10/10 - 1
16-239225-G-A c.1088C>T p.S363L Missense 10/10 - 2
16-239226-A-C c.1087T>G p.S363A Missense 10/10 - 1
16-239228-C-T c.1085G>A p.R362K Missense 10/10 - 1
16-239231-C-T c.1082G>A p.R361Q Missense 10/10 - 3
16-239232-G-A c.1081C>T p.R361W Missense 10/10 - 1
16-239247-C-G c.1066G>C p.G356R Missense 10/10 - 2
16-239247-C-T c.1066G>A p.G356R Missense 10/10 - 3
16-239248-G-A c.1065C>T p.N355= Synonymous 10/10 - 3
16-239252-G-A c.1061C>T p.S354F Missense 10/10 - 2
16-239255-C-G c.1058G>C p.S353T Missense 10/10 - 2
16-239261-A-C c.1052T>G p.L351R Missense 10/10 - 1
16-239271-C-G c.1042G>C p.D348H Missense 10/10 - 1
16-239272-C-A c.1041G>T p.P347= Synonymous 10/10 - 1
16-239272-C-G c.1041G>C p.P347= Synonymous 10/10 - 2
16-239272-C-T c.1041G>A p.P347= Synonymous 10/10 - 2
16-239273-G-A c.1040C>T p.P347L Missense 10/10 - 5
16-239274-G-A c.1039C>T p.P347S Missense 10/10 - 1
16-239275-G-A c.1038C>T p.P346= Synonymous 10/10 - 1
16-239276-G-A c.1037C>T p.P346L Missense 10/10 - 6
16-239281-TCG-GCT c.1030_1032delinsAGC p.R344S Missense 10/10 - 1
16-239282-C-T c.1031G>A p.R344Q Missense 10/10 - 2
16-239283-G-A c.1030C>T p.R344* Nonsense 10/10 - 3
16-239286-C-T c.1027G>A p.E343K Missense 10/10 - 3
16-239289-T-A c.1024A>T p.S342C Missense 10/10 - 2
16-239291-C-T c.1022G>A p.R341Q Missense 10/10 - 1
16-239290-C-A c.1023G>T p.R341= Synonymous 10/10 - 1
16-239290-C-G c.1023G>C p.R341= Synonymous 10/10 - 1
16-239290-C-T c.1023G>A p.R341= Synonymous 10/10 - 1
16-239292-G-A c.1021C>T p.R341W Missense 10/10 - 4
16-239292-G-T c.1021C>A p.R341= Synonymous 10/10 - 1
16-239295-C-A c.1018G>T p.G340W Missense 10/10 - 1
16-239297-CT-AA c.1015_1016delinsTT p.S339F Missense 10/10 - 2
16-239305-G-A c.1008C>T p.S336= Synonymous 10/10 - 1
16-239305-G-C c.1008C>G p.S336= Synonymous 10/10 - 1
16-239305-G-T c.1008C>A p.S336= Synonymous 10/10 - 1
16-239311-C-A c.1002G>T p.E334D Missense 10/10 - 1
16-239315-C-A c.998G>T p.R333I Missense 10/10 - 1
16-239316-T-C c.997A>G p.R333G Missense 10/10 - 3
16-239317-G-A c.996C>T p.S332= Synonymous 10/10 - 1
16-239317-G-C c.996C>G p.S332= Synonymous 10/10 - 1
16-239317-G-T c.996C>A p.S332= Synonymous 10/10 - 1
16-239318-G-A c.995C>T p.S332F Missense 10/10 - 1
16-239310-CCTCTCTGGATGCCCG-C c.988_1002del p.R330_E334del InFrameDeletion 10/10 - 1
16-239322-C-T c.991G>A p.A331T Missense 10/10 - 1
16-239324-C-T c.989G>A p.R330Q Missense 10/10 - 2
16-239325-G-A c.988C>T p.R330W Missense 10/10 - 1
16-239330-C-T c.983G>A p.R328K Missense 10/10 - 2
16-239618-G-A c.975-280C>T - IntronicSNV - 9/9 1
16-239895-C-G c.974+72G>C - IntronicSNV - 9/9 1
16-239970-T-C c.971A>G p.Y324C Missense 9/10 - 8
16-239975-C-A c.966G>T p.A322= Synonymous 9/10 - 1
16-239975-C-G c.966G>C p.A322= Synonymous 9/10 - 2
16-239975-C-T c.966G>A p.A322= Synonymous 9/10 - 2
16-239976-G-A c.965C>T p.A322V Missense 9/10 - 4
16-239983-G-A c.958C>T p.R320* Nonsense 9/10 - 3
16-239984-G-C c.957C>G p.D319E Missense 9/10 - 1
16-239988-C-T c.953G>A p.R318Q Missense 9/10 - 1
16-239989-G-A c.952C>T p.R318W Missense 9/10 - 1
16-239991-G-A c.950C>T p.S317F Missense 9/10 - 1
16-239994-G-A c.947C>T p.A316V Missense 9/10 - 1
16-239994-G-C c.947C>G p.A316G Missense 9/10 - 2
16-239997-C-A c.944G>T p.R315L Missense 9/10 - 5
16-239997-C-T c.944G>A p.R315Q Missense 9/10 - 2
16-239998-G-A c.943C>T p.R315W Missense 9/10 - 1
16-240000-C-T c.941G>A p.R314H Missense 9/10 - 3
16-240001-G-A c.940C>T p.R314C Missense 9/10 - 6
16-240003-T-C c.938A>G p.H313R Missense 9/10 - 1
16-240010-G-A c.931C>T p.R311W Missense 9/10 - 2
16-240020-CCG-ACA c.919_921delinsTGT p.R307C Missense 9/10 - 3
16-240021-C-T c.920G>A p.R307Q Missense 9/10 - 4
16-240020-C-A c.921G>T p.R307= Synonymous 9/10 - 2
16-240020-C-G c.921G>C p.R307= Synonymous 9/10 - 2
16-240020-C-T c.921G>A p.R307= Synonymous 9/10 - 3
16-240022-G-A c.919C>T p.R307W Missense 9/10 - 1
16-240022-G-T c.919C>A p.R307= Synonymous 9/10 - 2
16-240024-GA-CC c.916_917delinsGG p.S306G Missense 9/10 - 1
16-240025-A-G c.916T>C p.S306P Missense 9/10 - 1
16-240027-C-T c.914G>A p.R305H Missense 9/10 - 3
16-240028-G-A c.913C>T p.R305C Missense 9/10 - 4
16-240029-G-A c.912C>T p.S304= Synonymous 9/10 - 1
16-240029-G-C c.912C>G p.S304R Missense 9/10 - 1
16-240034-G-A c.907C>T p.R303C Missense 9/10 - 2
16-240043-G-A c.898C>T p.R300W Missense 9/10 - 4
16-240044-A-C c.897T>G p.H299Q Missense 9/10 - 2
16-240044-A-T c.897T>A p.H299Q Missense 9/10 - 1
16-240055-G-A c.886C>T p.R296* Nonsense 9/10 - 1
16-240060-C-T c.881G>A p.R294Q Missense 9/10 - 2
16-240061-G-A c.880C>T p.R294W Missense 9/10 - 4
16-240065-CCG-GAT c.874_876delinsATC p.R292I Missense 9/10 - 1
16-240066-CCG-C c.874_875del p.R292Vfs*6 Frameshift 9/10 - 1
16-240074-T-C c.867A>G p.K289= Synonymous 9/10 - 1
16-240078-C-A c.863G>T p.R288L Missense 9/10 - 1
16-240078-C-T c.863G>A p.R288Q Missense 9/10 - 1
16-240082-G-A c.859C>T p.R287* Nonsense 9/10 - 1
16-240085-C-A c.856G>T p.E286* Nonsense 9/10 - 1
16-240086-TC-AT c.854_855delinsAT p.R285H Missense 9/10 - 1
16-240088-G-A c.853C>T p.R285* Nonsense 9/10 - 5
16-240089-G-A c.852C>T p.S284= Synonymous 9/10 - 1
16-240090-G-A c.851C>T p.S284F Missense 9/10 - 2
16-240095-A-C c.846T>G p.S282= Synonymous 9/10 - 1
16-240095-A-G c.846T>C p.S282= Synonymous 9/10 - 1
16-240095-A-T c.846T>A p.S282= Synonymous 9/10 - 1
16-240099-C-A c.842G>T p.R281I Missense 9/10 - 2
16-240103-A-C c.838T>G p.S280A Missense 9/10 - 1
16-240105-C-A c.836G>T p.R279L Missense 9/10 - 2
16-240105-C-G c.836G>C p.R279P Missense 9/10 - 1
16-240106-G-A c.835C>T p.R279W Missense 9/10 - 2
16-240108-C-G c.833G>C p.R278T Missense 9/10 - 1
16-240110-C-A c.831G>T p.R277= Synonymous 9/10 - 3
16-240111-C-A c.830G>T p.R277L Missense 9/10 - 1
16-240111-C-T c.830G>A p.R277Q Missense 9/10 - 1
16-240110-C-G c.831G>C p.R277= Synonymous 9/10 - 3
16-240110-C-T c.831G>A p.R277= Synonymous 9/10 - 2
16-240112-G-A c.829C>T p.R277W Missense 9/10 - 1
16-240112-G-T c.829C>A p.R277= Synonymous 9/10 - 2
16-240114-C-T c.827G>A p.R276H Missense 9/10 - 1
16-240118-G-C c.823C>G p.R275G Missense 9/10 - 1
16-240121-C-T c.820G>A p.D274N Missense 9/10 - 2
16-240123-C-T c.818G>A p.R273Q Missense 9/10 - 2
16-240126-G-A c.815C>T p.S272F Missense 9/10 - 2
16-240127-A-T c.814T>A p.S272T Missense 9/10 - 1
16-240128-GC-TT c.812_813delinsAA p.R271Q Missense 9/10 - 1
16-240129-C-T c.812G>A p.R271H Missense 9/10 - 1
16-240130-G-A c.811C>T p.R271C Missense 9/10 - 1
16-240130-G-C c.811C>G p.R271G Missense 9/10 - 1
16-240131-TG-AA c.809_810delinsTT p.S270F Missense 9/10 - 2
16-240280-A-C c.807-146T>G - IntronicSNV - 8/9 15
16-240280-A-T c.807-146T>A - IntronicSNV - 8/9 15
16-240338-T-C c.806+202A>G - IntronicSNV - 8/9 2
16-240528-C-G c.806+12G>C - IntronicSNV - 8/9 1
16-240540-CT-TG c.805_806delinsCA p.R269Q Missense 8/10 - 1
16-240545-G-A c.801C>T p.R267= Synonymous 8/10 - 1
16-240547-G-A c.799C>T p.R267C Missense 8/10 - 3
16-240558-C-T c.788G>A p.R263K Missense 8/10 - 1
16-240564-C-G c.782G>C p.G261A Missense 8/10 - 1
16-240566-C-A c.780G>T p.S260= Synonymous 8/10 - 1
16-240566-C-G c.780G>C p.S260= Synonymous 8/10 - 1
16-240566-C-T c.780G>A p.S260= Synonymous 8/10 - 1
16-241210-G-T c.777-641C>A - IntronicSNV - 7/9 2
16-242522-G-T c.776+404C>A - IntronicSNV - 7/9 1
16-242770-A-G c.776+156T>C - IntronicSNV - 7/9 1
16-242898-G-C c.776+28C>G - IntronicSNV - 7/9 1
16-242930-T-A c.772A>T p.R258W Missense 7/10 - 1
16-242931-G-C c.771C>G p.S257R Missense 7/10 - 3
16-242931-G-T c.771C>A p.S257R Missense 7/10 - 2
16-242933-T-G c.769A>C p.S257R Missense 7/10 - 2
16-242935-AG-GC c.766_767delinsGC p.L256A Missense 7/10 - 2
16-242936-G-C c.766C>G p.L256V Missense 7/10 - 1
16-242939-G-A c.763C>T p.R255C Missense 7/10 - 5
16-242943-C-T c.759G>A p.E253= Synonymous 7/10 - 1
16-242946-CCG-ACA c.754_756delinsTGT p.R252C Missense 7/10 - 1
16-242946-CCG-GCT c.754_756delinsAGC p.R252S Missense 7/10 - 2
16-242946-C-G c.756G>C p.R252= Synonymous 7/10 - 1
16-242946-C-T c.756G>A p.R252= Synonymous 7/10 - 1
16-242947-C-T c.755G>A p.R252Q Missense 7/10 - 1
16-242948-G-A c.754C>T p.R252W Missense 7/10 - 1
16-242959-T-C c.743A>G p.E248G Missense 7/10 - 1
16-242962-C-G c.740G>C p.R247T Missense 7/10 - 1
16-242962-CT-TG c.739_740delinsCA p.R247Q Missense 7/10 - 1
16-242964-CCT-ATG c.736_738delinsCAT p.R246H Missense 7/10 - 1
16-242964-C-T c.738G>A p.R246= Synonymous 7/10 - 1
16-242966-T-G c.736A>C p.R246= Synonymous 7/10 - 1
16-242967-C-A c.735G>T p.R245S Missense 7/10 - 1
16-242967-CCT-ACA c.733_735delinsTGT p.R245C Missense 7/10 - 1
16-242968-CT-TG c.733_734delinsCA p.R245Q Missense 7/10 - 1
16-242970-C-A c.732G>T p.L244F Missense 7/10 - 1
16-242973-GCG-TCA c.727_729delinsTGA p.R243* Nonsense 7/10 - 1
16-242974-C-T c.728G>A p.R243H Missense 7/10 - 5
16-242975-G-A c.727C>T p.R243C Missense 7/10 - 2
16-242990-TCTC-T c.709_711del p.E237del InFrameDeletion 7/10 - 1
16-242996-G-A c.706C>T p.Q236* Nonsense 7/10 - 1
16-242997-C-A c.705G>T p.K235N Missense 7/10 - 1
16-243004-G-A c.698C>T p.A233V Missense 7/10 - 1
16-243005-C-A c.697G>T p.A233S Missense 7/10 - 1
16-243006-G-A c.696C>T p.V232= Synonymous 7/10 - 1
16-243006-G-C c.696C>G p.V232= Synonymous 7/10 - 1
16-243006-G-T c.696C>A p.V232= Synonymous 7/10 - 1
16-243499-T-A c.688-485A>T - IntronicSNV - 6/9 1
16-245691-G-C c.688-2677C>G - IntronicSNV - 6/9 1
16-246435-C-A c.687+2626G>T - IntronicSNV - 6/9 1
16-247870-G-T c.687+1191C>A - IntronicSNV - 6/9 1
16-247888-A-G c.687+1173T>C - IntronicSNV - 6/9 2
16-247962-C-T c.687+1099G>A - IntronicSNV - 6/9 1
16-248147-A-G c.687+914T>C - IntronicSNV - 6/9 1
16-248151-A-G c.687+910T>C - IntronicSNV - 6/9 1
16-248867-C-T c.687+194G>A - IntronicSNV - 6/9 1
16-248954-T-C c.687+107A>G - IntronicSNV - 6/9 1
16-249022-C-A c.687+39G>T - IntronicSNV - 6/9 1
16-249022-C-T c.687+39G>A - IntronicSNV - 6/9 2
16-249052-T-TG c.687+8dup - IntronicInsertion - 6/9 1
16-249063-T-A c.685A>T p.R229W Missense 6/10 - 1
16-249063-T-C c.685A>G p.R229G Missense 6/10 - 1
16-249064-C-T c.684G>A p.L228= Synonymous 6/10 - 1
16-249066-A-G c.682T>C p.L228= Synonymous 6/10 - 1
16-249074-A-G c.674T>C p.L225P Missense 6/10 - 1
16-249077-TT-GC c.670_671delinsGC p.K224A Missense 6/10 - 1
16-249083-C-T c.665G>A p.R222Q Missense 6/10 - 1
16-249084-G-A c.664C>T p.R222* Nonsense 6/10 - 9
16-249088-C-T c.660G>A p.Q220= Synonymous 6/10 - 1
16-249090-G-C c.658C>G p.Q220E Missense 6/10 - 2
16-249096-A-G c.652T>C p.F218L Missense 6/10 - 2
16-249099-C-G c.649G>C p.G217R Missense 6/10 - 2
16-249099-C-T c.649G>A p.G217R Missense 6/10 - 2
16-249103-G-A c.645C>T p.H215= Synonymous 6/10 - 1
16-249116-C-T c.632G>A p.G211D Missense 6/10 - 1
16-249118-G-A c.630C>T p.F210= Synonymous 6/10 - 3
16-249123-G-A c.625C>T p.H209Y Missense 6/10 - 1
16-249126-C-A c.622G>T p.D208Y Missense 6/10 - 2
16-249135-G-A c.613C>T p.R205C Missense 6/10 - 1
16-249136-AC-TT c.611_612delinsAA p.R204Q Missense 6/10 - 1
16-249136-A-G c.612T>C p.R204= Synonymous 6/10 - 1
16-249137-C-T c.611G>A p.R204H Missense 6/10 - 1
16-249138-G-A c.610C>T p.R204C Missense 6/10 - 1
16-249138-G-T c.610C>A p.R204S Missense 6/10 - 4
16-249141-C-A c.607G>T p.D203Y Missense 6/10 - 1
16-249143-T-A c.605A>T p.N202I Missense 6/10 - 1
16-249147-C-A c.601G>T p.D201Y Missense 6/10 - 1
16-249147-C-T c.601G>A p.D201N Missense 6/10 - 1
16-249151-G-GT c.596_597insA p.H200Pfs*2 Frameshift 6/10 - 1
16-249154-A-C c.594T>G p.G198= Synonymous 6/10 - 1
16-249154-A-G c.594T>C p.G198= Synonymous 6/10 - 1
16-249155-C-A c.593G>T p.G198V Missense 6/10 - 2
16-249159-G-T c.589C>A p.L197I Missense 6/10 - 1
16-249162-A-G c.586T>C p.Y196H Missense 6/10 - 2
16-249172-G-A c.576C>T p.V192= Synonymous 6/10 - 1
16-249172-G-C c.576C>G p.V192= Synonymous 6/10 - 1
16-249172-G-T c.576C>A p.V192= Synonymous 6/10 - 1
16-249178-G-T c.570C>A p.C190* Nonsense 6/10 - 1
16-249183-C-T c.565G>A p.V189I Missense 6/10 - 1
16-249184-AC-TT c.563_564delinsAA p.R188Q Missense 6/10 - 1
16-249185-C-T c.563G>A p.R188H Missense 6/10 - 1
16-249191-TT-GC c.556_557delinsGC p.K186A Missense 6/10 - 1
16-249195-G-A c.553C>T p.Q185* Nonsense 6/10 - 1
16-249196-C-A c.552G>T p.Q184H Missense 6/10 - 1
16-249196-C-G c.552G>C p.Q184H Missense 6/10 - 1
16-249200-T-C c.548A>G p.Q183R Missense 6/10 - 1
16-249201-G-A c.547C>T p.Q183* Nonsense 6/10 - 1
16-249209-G-A c.539C>T p.S180F Missense 6/10 - 1
16-249212-G-A c.536C>T p.A179V Missense 6/10 - 1
16-249213-C-A c.535G>T p.A179S Missense 6/10 - 1
16-249218-A-G c.530T>C p.M177T Missense 6/10 - 1
16-249225-T-C c.523A>G p.N175D Missense 6/10 - 1
16-249464-C-G c.511-227G>C - IntronicSNV - 5/9 1
16-249464-C-T c.511-227G>A - IntronicSNV - 5/9 1
16-249584-A-G c.511-347T>C - IntronicSNV - 5/9 1
16-249926-T-C c.511-689A>G - IntronicSNV - 5/9 1
16-250184-G-A c.511-947C>T - IntronicSNV - 5/9 2
16-251491-T-C c.511-2254A>G - IntronicSNV - 5/9 1
16-252763-T-G c.510+3240A>C - IntronicSNV - 5/9 1
16-253476-T-A c.510+2527A>T - IntronicSNV - 5/9 1
16-253964-G-A c.510+2039C>T - IntronicSNV - 5/9 1
16-255944-C-A c.510+59G>T - IntronicSNV - 5/9 1
16-255944-C-T c.510+59G>A - IntronicSNV - 5/9 1
16-256005-C-T c.508G>A p.E170K Missense 5/10 - 1
16-256011-C-A c.502G>T p.E168* Nonsense 5/10 - 1
16-256013-T-C c.500A>G p.K167R Missense 5/10 - 1
16-256022-G-A c.491C>T p.A164V Missense 5/10 - 1
16-256025-C-G c.488G>C p.R163P Missense 5/10 - 1
16-256026-G-A c.487C>T p.R163C Missense 5/10 - 2
16-256026-G-T c.487C>A p.R163S Missense 5/10 - 1
16-256029-C-G c.484G>C p.V162L Missense 5/10 - 1
16-256032-T-C c.481A>G p.K161E Missense 5/10 - 1
16-256035-C-T c.478G>A p.E160K Missense 5/10 - 4
16-256043-A-G c.470T>C p.M157T Missense 5/10 - 1
16-256055-T-C c.458A>G p.Q153R Missense 5/10 - 1
16-256056-G-A c.457C>T p.Q153* Nonsense 5/10 - 1
16-256057-G-A c.456C>T p.S152= Synonymous 5/10 - 4
16-256059-A-G c.454T>C p.S152P Missense 5/10 - 1
16-256061-T-C c.452A>G p.E151G Missense 5/10 - 1
16-256062-C-A c.451G>T p.E151* Nonsense 5/10 - 1
16-256064-T-C c.449A>G p.D150G Missense 5/10 - 1
16-256073-C-T c.440G>A p.G147D Missense 5/10 - 1
16-256077-C-T c.436G>A p.E146K Missense 5/10 - 1
16-256096-T-C c.417A>G p.K139= Synonymous 5/10 - 1
16-256099-A-G c.414T>C p.A138= Synonymous 5/10 - 1
16-256105-G-A c.408C>T p.L136= Synonymous 5/10 - 2
16-256110-T-C c.403A>G p.K135E Missense 5/10 - 1
16-256117-T-C c.396A>G p.E132= Synonymous 5/10 - 1
16-256119-C-T c.394G>A p.E132K Missense 5/10 - 3
16-256142-T-G c.371A>C p.E124A Missense 5/10 - 1
16-256150-T-C c.367-4A>G - IntronicSNV - 4/9 1
16-256278-A-C c.367-132T>G - IntronicSNV - 4/9 2
16-256278-A-T c.367-132T>A - IntronicSNV - 4/9 2
16-258076-C-T c.366+1G>A - IntronicSNV - 4/9 1
16-258078-T-G c.365A>C p.K122T Missense 4/10 - 2
16-258081-G-A c.362C>T p.A121V Missense 4/10 - 1
16-258084-G-A c.359C>T p.S120F Missense 4/10 - 1
16-258086-A-G c.357T>C p.V119= Synonymous 4/10 - 1
16-258089-T-A c.354A>T p.E118D Missense 4/10 - 1
16-258089-T-G c.354A>C p.E118D Missense 4/10 - 1
16-258092-C-A c.351G>T p.A117= Synonymous 4/10 - 1
16-258092-C-G c.351G>C p.A117= Synonymous 4/10 - 1
16-258092-C-T c.351G>A p.A117= Synonymous 4/10 - 1
16-258093-G-A c.350C>T p.A117V Missense 4/10 - 1
16-258094-C-A c.349G>T p.A117S Missense 4/10 - 2
16-258096-C-A c.347G>T p.S116I Missense 4/10 - 1
16-258098-G-A c.345C>T p.I115= Synonymous 4/10 - 2
16-258098-G-T c.345C>A p.I115= Synonymous 4/10 - 2
16-258104-C-A c.339G>T p.E113D Missense 4/10 - 1
16-258104-C-G c.339G>C p.E113D Missense 4/10 - 1
16-258104-C-T c.339G>A p.E113= Synonymous 4/10 - 1
16-258106-C-A c.337G>T p.E113* Nonsense 4/10 - 1
16-258114-T-A c.329A>T p.E110V Missense 4/10 - 1
16-258115-C-T c.328G>A p.E110K Missense 4/10 - 1
16-258118-C-T c.325G>A p.A109T Missense 4/10 - 1
16-258123-C-T c.320G>A p.R107Q Missense 4/10 - 1
16-258124-G-A c.319C>T p.R107W Missense 4/10 - 1
16-258136-AGCTCAGTT-A c.300_307del p.R100Sfs*26 Frameshift 4/10 - 1
16-258139-C-T c.304G>A p.E102K Missense 4/10 - 1
16-258148-G-A c.295C>T p.R99W Missense 4/10 - 2
16-258151-C-A c.292G>T p.D98Y Missense 4/10 - 1
16-258157-C-T c.286G>A p.E96K Missense 4/10 - 1
16-258159-GC-CA c.283_284delinsTG p.A95C Missense 4/10 - 1
16-258159-GC-TA c.283_284delinsTA p.A95Y Missense 4/10 - 1
16-258177-T-C c.266A>G p.H89R Missense 4/10 - 1
16-258184-T-C c.259A>G p.M87V Missense 4/10 - 2
16-258185-T-TA c.257_258insT p.M87Nfs*10 SpliceAcceptorInsertion 4/10 - 1
16-258187-C-T c.256G>A p.A86T Missense 4/10 - 1
16-259240-T-A c.256-1053A>T - IntronicSNV - 3/9 1
16-261866-T-A c.256-3679A>T - IntronicSNV - 3/9 1
16-265159-C-T c.255+5489G>A - IntronicSNV - 3/9 2
16-265881-T-C c.255+4767A>G - IntronicSNV - 3/9 1
16-267208-G-A c.255+3440C>T - IntronicSNV - 3/9 1
16-267574-T-A c.255+3074A>T - IntronicSNV - 3/9 1
16-267574-T-C c.255+3074A>G - IntronicSNV - 3/9 1
16-267574-T-G c.255+3074A>C - IntronicSNV - 3/9 1
16-270473-G-A c.255+175C>T - IntronicSNV - 3/9 1
16-270516-G-A c.255+132C>T - IntronicSNV - 3/9 1
16-270650-C-G c.253G>C p.D85H Missense 3/10 - 2
16-270656-C-G c.247G>C p.E83Q Missense 3/10 - 1
16-270656-C-T c.247G>A p.E83K Missense 3/10 - 1
16-270668-C-A c.235G>T p.D79Y Missense 3/10 - 1
16-270681-T-A c.222A>T p.A74= Synonymous 3/10 - 3
16-270681-T-C c.222A>G p.A74= Synonymous 3/10 - 1
16-270681-T-G c.222A>C p.A74= Synonymous 3/10 - 1
16-270692-A-T c.211T>A p.Y71N Missense 3/10 - 1
16-270697-GC-TA c.205_206delinsTA p.A69* Nonsense 3/10 - 1
16-270700-CG-AT c.202_203delinsAT p.R68I Missense 3/10 - 2
16-270706-G-A c.197C>T p.A66V Missense 3/10 - 2
16-270706-GC-AT c.196_197delinsAT p.A66I Missense 3/10 - 1
16-270708-C-A c.195G>T p.L65F Missense 3/10 - 1
16-270708-C-G c.195G>C p.L65F Missense 3/10 - 1
16-270713-C-A c.190G>T p.D64Y Missense 3/10 - 3
16-270714-G-A c.189C>T p.H63= Synonymous 3/10 - 1
16-270723-G-A c.180C>T p.T60= Synonymous 3/10 - 1
16-270726-A-G c.177T>C p.C59= Synonymous 3/10 - 1
16-270727-C-G c.176G>C p.C59S Missense 3/10 - 1
16-270728-A-G c.175T>C p.C59R Missense 3/10 - 1
16-270728-A-T c.175T>A p.C59S Missense 3/10 - 1
16-270745-C-T c.158G>A p.R53H Missense 3/10 - 1
16-271022-T-C c.157-276A>G - IntronicSNV - 2/9 1
16-271712-A-C c.157-966T>G - IntronicSNV - 2/9 1
16-271712-A-G c.157-966T>C - IntronicSNV - 2/9 1
16-277073-G-A c.156+168C>T - IntronicSNV - 2/9 1
16-277242-G-A c.155C>T p.T52M Missense 2/10 - 1
16-277250-C-A c.147G>T p.L49= Synonymous 2/10 - 1
16-277250-C-G c.147G>C p.L49= Synonymous 2/10 - 1
16-277250-C-T c.147G>A p.L49= Synonymous 2/10 - 1
16-277252-G-A c.145C>T p.L49= Synonymous 2/10 - 1
16-277260-T-C c.137A>G p.H46R Missense 2/10 - 1
16-277263-G-T c.134C>A p.P45H Missense 2/10 - 1
16-277264-G-C c.133C>G p.P45A Missense 2/10 - 1
16-277264-G-T c.133C>A p.P45T Missense 2/10 - 1
16-277267-A-G c.130T>C p.C44R Missense 2/10 - 1
16-277285-T-TA c.111_112insT p.S38* Nonsense 2/10 - 1
16-277289-G-T c.108C>A p.C36* Nonsense 2/10 - 1
16-277296-C-T c.101G>A p.R34H Missense 2/10 - 2
16-277297-G-T c.100C>A p.R34S Missense 2/10 - 1
16-277300-C-T c.97G>A p.D33N Missense 2/10 - 1
16-277304-T-C c.93A>G p.T31= Synonymous 2/10 - 1
16-277307-A-T c.90T>A p.F30L Missense 2/10 - 1
16-277308-A-C c.89T>G p.F30C Missense 2/10 - 1
16-277326-G-T c.71C>A p.T24N Missense 2/10 - 2
16-277327-T-G c.70A>C p.T24P Missense 2/10 - 1
16-277330-C-T c.67G>A p.E23K Missense 2/10 - 1
16-277458-G-A c.62-123C>T - IntronicSNV - 1/9 10
16-277912-A-G c.62-577T>C - IntronicSNV - 1/9 3
16-278329-C-A c.61+949G>T - IntronicSNV - 1/9 1
16-278635-T-C c.61+643A>G - IntronicSNV - 1/9 1
16-278812-T-G c.61+466A>C - IntronicSNV - 1/9 1
16-279286-GC-AA c.52_53delinsTT p.A18F Missense 1/10 - 1
16-279290-T-G c.49A>C p.T17P Missense 1/10 - 1
16-279298-A-G c.41T>C p.L14P Missense 1/10 - 1
16-279302-G-A c.37C>T p.Q13* Nonsense 1/10 - 1
16-279306-C-A c.33G>T p.L11= Synonymous 1/10 - 1
16-279306-C-G c.33G>C p.L11= Synonymous 1/10 - 1
16-279306-C-T c.33G>A p.L11= Synonymous 1/10 - 1
16-279308-G-A c.31C>T p.L11= Synonymous 1/10 - 1
16-279310-A-G c.29T>C p.L10P Missense 1/10 - 1
16-279315-C-A c.24G>T p.R8= Synonymous 1/10 - 2
16-279315-C-G c.24G>C p.R8= Synonymous 1/10 - 2
16-279315-C-T c.24G>A p.R8= Synonymous 1/10 - 2
16-279317-G-C c.22C>G p.R8G Missense 1/10 - 1
16-279317-G-T c.22C>A p.R8= Synonymous 1/10 - 2
16-279321-C-G c.18G>C p.Q6H Missense 1/10 - 1
16-279331-G-A c.8C>T p.A3V Missense 1/10 - 1
16-279398-G-A c.-60C>T - 5-UTRSNV 1/10 - 1
16-279414-A-T c.-76T>A - 5-UTRSNV 1/10 - 1
16-279441-G-A c.-103C>T - 5-UTRSNV 1/10 - 1
16-279441-G-T c.-103C>A - 5-UTRSNV 1/10 - 1