ERMAP

ERMAP erythroblast membrane associated protein (Scianna blood group)

Annotation transcript: NM_001017922.2

460 unique variant annotations were identified in 273 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
1-43293244-C-A c.-6+1835C>A - intron_variant - 2/11 1
1-43290499-T-A c.-121-795T>A - IntronicSNV - 1/11 1
1-43290499-T-C c.-121-795T>C - IntronicSNV - 1/11 1
1-43296118-G-A c.-2G>A - 5-UTRSNV 3/12 - 8
1-43296123-G-C c.4G>C p.E2Q Missense 3/12 - 1
1-43296127-T-G c.8T>G p.M3R Missense 3/12 - 1
1-43296130-C-T c.11C>T p.A4V Missense 3/12 - 6
1-43296132-A-G c.13A>G p.S5G Missense 3/12 - 1
1-43296139-C-T c.20C>T p.A7V Missense 3/12 - 1
1-43296145-C-A c.26C>A p.S9Y Missense 3/12 - 1
1-43296149-G-C c.30G>C p.W10C Missense 3/12 - 1
1-43296150-C-G c.31C>G p.L11V Missense 3/12 - 1
1-43296154-C-G c.35C>G p.S12C Missense 3/12 - 3
1-43296154-C-T c.35C>T p.S12F Missense 3/12 - 2
1-43296156-G-C c.37G>C p.G13R Missense 3/12 - 1
1-43296157-G-A c.38G>A p.G13D Missense 3/12 - 2
1-43296160-G-T c.41G>T p.C14F Missense 3/12 - 1
1-43296163-T-G c.44T>G p.L15R Missense 3/12 - 5
1-43296169-C-T c.50C>T p.P17L Missense 3/12 - 1
1-43296171-CT-GC c.52_53delinsGC p.L18A Missense 3/12 - 1
1-43296173-C-A c.54C>A p.L18= Synonymous 3/12 - 2
1-43296173-C-G c.54C>G p.L18= Synonymous 3/12 - 2
1-43296173-C-T c.54C>T p.L18= Synonymous 3/12 - 11
1-43296174-G-A c.55G>A p.V19I Missense 3/12 - 1
1-43296183-C-T c.64C>T p.R22W Missense 3/12 - 6
1-43296184-G-A c.65G>A p.R22Q Missense 3/12 - 3
1-43296189-T-C c.70T>C p.S24P Missense 3/12 - 1
1-43296195-C-T c.76C>T p.H26Y Missense 3/12 - 28
1-43296197-T-C c.78T>C p.H26= Synonymous 3/12 - 1
1-43296200-G-A c.81G>A p.V27= Synonymous 3/12 - 1
1-43296204-G-A c.85G>A p.G29S Missense 3/12 - 2
1-43296354-G-A c.86-85G>A - IntronicSNV - 3/11 8
1-43296354-G-T c.86-85G>T - IntronicSNV - 3/11 8
1-43296440-C-A c.87C>A p.G29= Synonymous 4/12 - 2
1-43296440-C-G c.87C>G p.G29= Synonymous 4/12 - 2
1-43296440-C-T c.87C>T p.G29= Synonymous 4/12 - 2
1-43296450-G-A c.97G>A p.D33N Missense 4/12 - 1
1-43296450-G-T c.97G>T p.D33Y Missense 4/12 - 1
1-43296456-G-A c.103G>A p.G35S Missense 4/12 - 9
1-43296457-G-A c.104G>A p.G35D Missense 4/12 - 1
1-43296462-T-C c.109T>C p.F37L Missense 4/12 - 3
1-43296464-C-A c.111C>A p.F37L Missense 4/12 - 2
1-43296464-C-G c.111C>G p.F37L Missense 4/12 - 2
1-43296468-G-A c.115G>A p.V39M Missense 4/12 - 1
1-43296480-G-A c.127G>A p.G43R Missense 4/12 - 1
1-43296480-G-C c.127G>C p.G43R Missense 4/12 - 1
1-43296483-G-A c.130G>A p.G44S Missense 4/12 - 1
1-43296484-G-A c.131G>A p.G44D Missense 4/12 - 2
1-43296492-G-A c.139G>A p.E47K Missense 4/12 - 5
1-43296495-GCT-G c.142_143del p.L48Afs*40 Frameshift 4/12 - 1
1-43296497-G-T c.144G>T p.L48= Synonymous 4/12 - 2
1-43296508-T-G c.155T>G p.L52R Missense 4/12 - 1
1-43296519-C-G c.166C>G p.P56A Missense 4/12 - 1
1-43296520-C-A c.167C>A p.P56H Missense 4/12 - 2
1-43296522-G-A c.169G>A p.G57R Missense 4/12 - 16
1-43296522-G-C c.169G>C p.G57R Missense 4/12 - 12
1-43296523-G-A c.170G>A p.G57E Missense 4/12 - 3
1-43296523-G-C c.170G>C p.G57A Missense 4/12 - 1
1-43296526-C-T c.173C>T p.T58M Missense 4/12 - 2
1-43296527-G-A c.174G>A p.T58= Synonymous 4/12 - 1
1-43296527-G-C c.174G>C p.T58= Synonymous 4/12 - 1
1-43296527-G-T c.174G>T p.T58= Synonymous 4/12 - 1
1-43296531-C-G c.178C>G p.P60A Missense 4/12 - 6
1-43296531-C-T c.178C>T p.P60S Missense 4/12 - 1
1-43296535-A-G c.182A>G p.K61R Missense 4/12 - 1
1-43296537-G-A c.184G>A p.E62K Missense 4/12 - 1
1-43296537-G-T c.184G>T p.E62* Nonsense 4/12 - 4
1-43296538-A-C c.185A>C p.E62A Missense 4/12 - 1
1-43296538-A-T c.185A>T p.E62V Missense 4/12 - 1
1-43296543-AGG-TGT c.190_192delinsTGT p.R64C Missense 4/12 - 1
1-43296547-G-A c.194G>A p.W65* Nonsense 4/12 - 1
1-43296547-G-T c.194G>T p.W65L Missense 4/12 - 1
1-43296552-CGG-AGC c.199_201delinsAGC p.R67S Missense 4/12 - 1
1-43296552-C-T c.199C>T p.R67W Missense 4/12 - 8
1-43296563-C-T c.210C>T p.F70= Synonymous 4/12 - 3
1-43296564-C-A c.211C>A p.P71T Missense 4/12 - 1
1-43296564-C-T c.211C>T p.P71S Missense 4/12 - 1
1-43296565-C-T c.212C>T p.P71L Missense 4/12 - 1
1-43296566-G-A c.213G>A p.P71= Synonymous 4/12 - 1
1-43296566-G-C c.213G>C p.P71= Synonymous 4/12 - 1
1-43296566-G-T c.213G>T p.P71= Synonymous 4/12 - 1
1-43296570-CGC-AAG c.217_219delinsAAG p.R73K Missense 4/12 - 1
1-43296570-C-T c.217C>T p.R73C Missense 4/12 - 3
1-43296571-G-A c.218G>A p.R73H Missense 4/12 - 3
1-43296572-C-T c.219C>T p.R73= Synonymous 4/12 - 1
1-43296577-A-G c.224A>G p.Q75R Missense 4/12 - 3
1-43296587-C-A c.234C>A p.H78Q Missense 4/12 - 1
1-43296589-T-C c.236T>C p.I79T Missense 4/12 - 1
1-43296591-T-G c.238T>G p.F80V Missense 4/12 - 1
1-43296593-C-T c.240C>T p.F80= Synonymous 4/12 - 2
1-43296594-C-G c.241C>G p.R81G Missense 4/12 - 1
1-43296594-C-T c.241C>T p.R81W Missense 4/12 - 5
1-43296595-G-A c.242G>A p.R81Q Missense 4/12 - 1
1-43296596-G-A c.243G>A p.R81= Synonymous 4/12 - 1
1-43296604-A-C c.251A>C p.K84T Missense 4/12 - 2
1-43296607-A-G c.254A>G p.D85G Missense 4/12 - 1
1-43296612-G-T c.259G>T p.D87Y Missense 4/12 - 2
1-43296615-G-A c.262G>A p.E88K Missense 4/12 - 1
1-43296615-G-T c.262G>T p.E88* Nonsense 4/12 - 1
1-43296622-T-A c.269T>A p.L90Q Missense 4/12 - 1
1-43296626-G-A c.273G>A p.M91I Missense 4/12 - 1
1-43296627-C-T c.274C>T p.P92S Missense 4/12 - 1
1-43296630-G-A c.277G>A p.E93K Missense 4/12 - 1
1-43296631-A-G c.278A>G p.E93G Missense 4/12 - 1
1-43296634-A-G c.281A>G p.Y94C Missense 4/12 - 1
1-43296635-T-C c.282T>C p.Y94= Synonymous 4/12 - 1
1-43296636-A-G c.283A>G p.K95E Missense 4/12 - 8
1-43296642-AGG-CAT c.289_291delinsCAT p.R97H Missense 4/12 - 1
1-43296645-AC-GG c.292_293delinsGG p.T98G Missense 4/12 - 1
1-43296646-C-T c.293C>T p.T98M Missense 4/12 - 4
1-43296647-G-A c.294G>A p.T98= Synonymous 4/12 - 1
1-43296647-G-T c.294G>T p.T98= Synonymous 4/12 - 1
1-43296651-C-T c.298C>T p.L100= Synonymous 4/12 - 1
1-43296653-A-C c.300A>C p.L100= Synonymous 4/12 - 1
1-43296653-A-G c.300A>G p.L100= Synonymous 4/12 - 1
1-43296653-A-T c.300A>T p.L100= Synonymous 4/12 - 1
1-43296669-G-A c.316G>A p.E106K Missense 4/12 - 1
1-43296669-G-C c.316G>C p.E106Q Missense 4/12 - 1
1-43296675-AG-TT c.322_323delinsTT p.S108F Missense 4/12 - 2
1-43296678-G-A c.325G>A p.V109I Missense 4/12 - 8
1-43296685-T-C c.332T>C p.L111P Missense 4/12 - 1
1-43296688-A-C c.335A>C p.Q112P Missense 4/12 - 1
1-43296689-G-A c.336G>A p.Q112= Synonymous 4/12 - 1
1-43296690-A-C c.337A>C p.I113L Missense 4/12 - 1
1-43296699-G-A c.346G>A p.V116M Missense 4/12 - 3
1-43296702-C-T c.349C>T p.R117C Missense 4/12 - 2
1-43296703-G-A c.350G>A p.R117H Missense 4/12 - 1
1-43296706-T-C c.353T>C p.L118P Missense 4/12 - 2
1-43296708-G-A c.355G>A p.E119K Missense 4/12 - 2
1-43296709-A-G c.356A>G p.E119G Missense 4/12 - 1
1-43296715-A-G c.362A>G p.Q121R Missense 4/12 - 1
1-43296721-C-G c.368C>G p.S123C Missense 4/12 - 6
1-43296721-C-T c.368C>T p.S123F Missense 4/12 - 1
1-43296724-A-G c.371A>G p.Y124C Missense 4/12 - 1
1-43296726-C-T c.373C>T p.R125* Nonsense 4/12 - 1
1-43296727-G-A c.374G>A p.R125Q Missense 4/12 - 5
1-43296729-T-C c.376T>C p.C126R Missense 4/12 - 1
1-43296731-T-G c.378T>G p.C126W Missense 4/12 - 1
1-43296732-C-T c.379C>T p.L127= Synonymous 4/12 - 2
1-43296734-G-A c.381G>A p.L127= Synonymous 4/12 - 2
1-43296734-G-C c.381G>C p.L127= Synonymous 4/12 - 3
1-43296734-G-T c.381G>T p.L127= Synonymous 4/12 - 2
1-43296738-C-T c.385C>T p.Q129* Nonsense 4/12 - 1
1-43296740-A-C c.387A>C p.Q129H Missense 4/12 - 1
1-43296740-A-T c.387A>T p.Q129H Missense 4/12 - 1
1-43296750-C-T c.397C>T p.L133= Synonymous 4/12 - 1
1-43296754-G-A c.401G>A p.S134N Missense 4/12 - 1
1-43296764-C-T c.411C>T p.D137= Synonymous 4/12 - 1
1-43296765-A-G c.412A>G p.T138A Missense 4/12 - 2
1-43296766-C-T c.413C>T p.T138I Missense 4/12 - 4
1-43296767-C-A c.414C>A p.T138= Synonymous 4/12 - 3
1-43296767-C-G c.414C>G p.T138= Synonymous 4/12 - 2
1-43296767-C-T c.414C>T p.T138= Synonymous 4/12 - 2
1-43296768-G-A c.415G>A p.V139M Missense 4/12 - 3
1-43296769-T-C c.416T>C p.V139A Missense 4/12 - 1
1-43296780-G-A c.427G>A p.V143I Missense 4/12 - 3
1-43296785-A-C c.432A>C p.A144= Synonymous 4/12 - 1
1-43296786-G-A c.433G>A p.A145T Missense 4/12 - 1
1-43297082-T-G c.433+296T>G - IntronicSNV - 4/11 1
1-43298025-A-G c.433+1239A>G - IntronicSNV - 4/11 1
1-43298334-A-G c.433+1548A>G - IntronicSNV - 4/11 1
1-43300253-T-C c.434-456T>C - IntronicSNV - 4/11 1
1-43300663-T-C c.434-46T>C - IntronicSNV - 4/11 5
1-43300724-G-T c.449G>T p.S150I Missense 5/12 - 1
1-43300731-C-T c.456C>T p.S152= Synonymous 5/12 - 2
1-43300733-C-T c.458C>T p.P153L Missense 5/12 - 3
1-43300734-CT-AA c.459_460delinsAA p.S154T Missense 5/12 - 1
1-43300738-G-A c.463G>A p.A155T Missense 5/12 - 1
1-43300742-T-A c.467T>A p.V156E Missense 5/12 - 1
1-43300744-G-C c.469G>C p.A157P Missense 5/12 - 2
1-43300747-C-G c.472C>G p.L158V Missense 5/12 - 1
1-43300753-G-A c.478G>A p.V160M Missense 5/12 - 1
1-43300765-G-A c.490G>A p.V164I Missense 5/12 - 1
1-43300777-C-T c.502C>T p.L168F Missense 5/12 - 1
1-43300783-A-G c.508A>G p.M170V Missense 5/12 - 1
1-43300785-G-C c.510G>C p.M170I Missense 5/12 - 1
1-43300786-G-A c.511G>A p.V171M Missense 5/12 - 1
1-43300793-T-G c.518T>G p.L173R Missense 5/12 - 2
1-43300794-T-C c.519T>C p.L173= Synonymous 5/12 - 2
1-43300801-A-G c.526A>G p.I176V Missense 5/12 - 1
1-43300802-T-C c.527T>C p.I176T Missense 5/12 - 1
1-43300805-G-A c.530G>A p.W177* Nonsense 5/12 - 3
1-43300806-G-A c.531G>A p.W177* Nonsense 5/12 - 2
1-43300806-G-GT c.531_532insT p.K178* Nonsense 5/12 - 1
1-43300811-A-C c.536A>C p.Q179P Missense 5/12 - 1
1-43300813-AGA-TGT c.538_540delinsTGT p.R180C Missense 5/12 - 1
1-43300814-G-A c.539G>A p.R180K Missense 5/12 - 2
1-43300921-C-G c.550+96C>G - IntronicSNV - 5/11 7
1-43301021-GCC-G c.550+199_550+200del - IntronicDeletion - 5/11 3
1-43301391-T-C c.551-12T>C - IntronicSNV - 5/11 1
1-43301403-A-G c.551A>G p.E184G Missense 6/12 - 1
1-43301407-G-A c.555G>A p.K185= Synonymous 6/12 - 1
1-43301412-T-C c.560T>C p.L187P Missense 6/12 - 1
1-43301423-G-T c.571G>T p.V191L Missense 6/12 - 1
1-43301427-C-T c.575C>T p.T192M Missense 6/12 - 2
1-43301428-G-A c.576G>A p.T192= Synonymous 6/12 - 1
1-43301428-G-C c.576G>C p.T192= Synonymous 6/12 - 1
1-43301428-G-T c.576G>T p.T192= Synonymous 6/12 - 1
1-43301432-GTG-ATC c.580_582delinsATC p.V194I Missense 6/12 - 1
1-43301455-G-A c.583+20G>A - IntronicSNV - 6/11 1
1-43301508-A-C c.583+73A>C - IntronicSNV - 6/11 1
1-43302576-A-AG c.584-253_584-252insG - IntronicInsertion - 6/11 1
1-43302837-C-A c.592C>A p.L198I Missense 7/12 - 1
1-43302851-T-A c.606T>A p.A202= Synonymous 7/12 - 1
1-43302851-T-C c.606T>C p.A202= Synonymous 7/12 - 1
1-43302851-T-G c.606T>G p.A202= Synonymous 7/12 - 1
1-43302852-A-G c.607A>G p.K203E Missense 7/12 - 1
1-43302855-G-T c.610G>T p.E204* Nonsense 7/12 - 1
1-43302857-A-G c.612A>G p.E204= Synonymous 7/12 - 1
1-43302862-G-A c.616+1G>A - IntronicSNV - 7/11 1
1-43302884-G-T c.616+23G>T - IntronicSNV - 7/11 1
1-43302893-CA-C c.616+38del - IntronicDeletion - 7/11 1
1-43302971-C-G c.616+110C>G - IntronicSNV - 7/11 6
1-43302971-C-T c.616+110C>T - IntronicSNV - 7/11 4
1-43304174-C-A c.617-398C>A - IntronicSNV - 7/11 1
1-43304174-C-G c.617-398C>G - IntronicSNV - 7/11 1
1-43304513-T-C c.617-59T>C - IntronicSNV - 7/11 1
1-43304577-C-T c.622C>T p.L208F Missense 8/12 - 1
1-43304580-C-T c.625C>T p.H209Y Missense 8/12 - 1
1-43304587-C-T c.632C>T p.A211V Missense 8/12 - 1
1-43304590-T-G c.635T>G p.V212G Missense 8/12 - 1
1-43305712-C-T c.646C>T p.R216W Missense 9/12 - 3
1-43305713-G-A c.647G>A p.R216Q Missense 9/12 - 6
1-43305715-A-T c.649A>T p.S217C Missense 9/12 - 3
1-43305718-G-A c.652G>A p.E218K Missense 9/12 - 1
1-43305724-A-T c.658A>T p.K220* Nonsense 9/12 - 2
1-43305753-G-A c.658+29G>A - IntronicSNV - 9/11 7
1-43305824-G-A c.660G>A p.K220= Synonymous 10/12 - 1
1-43305825-T-C c.661T>C p.L221= Synonymous 10/12 - 1
1-43305826-TG-AA c.662_663delinsAA p.L221* Missense 10/12 - 1
1-43305832-G-A c.668G>A p.R223K Missense 10/12 - 1
1-43305836-T-G c.672T>G p.A224= Synonymous 10/12 - 1
1-43305839-A-C c.675A>C p.A225= Synonymous 10/12 - 1
1-43305839-A-G c.675A>G p.A225= Synonymous 10/12 - 1
1-43305839-A-T c.675A>T p.A225= Synonymous 10/12 - 2
1-43305841-C-T c.677C>T p.A226V Missense 10/12 - 3
1-43305847-C-A c.683C>A p.S228* Nonsense 10/12 - 1
1-43305947-G-T c.692G>T p.R231I Missense 11/12 - 1
1-43305952-G-A c.697G>A p.A233T Missense 11/12 - 1
1-43305953-C-T c.698C>T p.A233V Missense 11/12 - 1
1-43305956-G-A c.701G>A p.R234Q Missense 11/12 - 8
1-43305964-T-G c.709T>G p.F237V Missense 11/12 - 3
1-43306128-G-A c.712+161G>A - IntronicSNV - 11/11 3
1-43306217-G-A c.712+250G>A - IntronicSNV - 11/11 2
1-43306217-G-T c.712+250G>T - IntronicSNV - 11/11 1
1-43307582-A-G c.713-606A>G - IntronicSNV - 11/11 1
1-43308190-G-T c.715G>T p.A239S Missense 12/12 - 1
1-43308196-A-G c.721A>G p.T241A Missense 12/12 - 1
1-43308197-C-T c.722C>T p.T241I Missense 12/12 - 2
1-43308206-C-T c.731C>T p.P244L Missense 12/12 - 1
1-43308212-C-T c.737C>T p.T246I Missense 12/12 - 1
1-43308229-A-C c.754A>C p.I252L Missense 12/12 - 1
1-43308243-C-T c.768C>T p.D256= Synonymous 12/12 - 2
1-43308250-T-C c.775T>C p.C259R Missense 12/12 - 5
1-43308260-T-A c.785T>A p.L262H Missense 12/12 - 1
1-43308263-G-A c.788G>A p.G263E Missense 12/12 - 12
1-43308268-A-G c.793A>G p.R265G Missense 12/12 - 3
1-43308268-AGA-TGT c.793_795delinsTGT p.R265C Missense 12/12 - 1
1-43308271-C-A c.796C>A p.R266= Synonymous 12/12 - 1
1-43308271-C-T c.796C>T p.R266W Missense 12/12 - 5
1-43308273-G-A c.798G>A p.R266= Synonymous 12/12 - 1
1-43308273-G-C c.798G>C p.R266= Synonymous 12/12 - 1
1-43308273-G-T c.798G>T p.R266= Synonymous 12/12 - 1
1-43308272-G-A c.797G>A p.R266Q Missense 12/12 - 1
1-43308272-G-C c.797G>C p.R266P Missense 12/12 - 1
1-43308281-T-C c.806T>C p.V269A Missense 12/12 - 1
1-43308282-A-G c.807A>G p.V269= Synonymous 12/12 - 1
1-43308282-A-T c.807A>T p.V269= Synonymous 12/12 - 1
1-43308286-G-A c.811G>A p.D271N Missense 12/12 - 1
1-43308287-A-G c.812A>G p.D271G Missense 12/12 - 1
1-43308288-C-A c.813C>A p.D271E Missense 12/12 - 1
1-43308291-C-G c.816C>G p.N272K Missense 12/12 - 1
1-43308291-C-T c.816C>T p.N272= Synonymous 12/12 - 1
1-43308292-C-A c.817C>A p.P273T Missense 12/12 - 1
1-43308297-G-A c.822G>A p.Q274= Synonymous 12/12 - 1
1-43308299-G-T c.824G>T p.R275I Missense 12/12 - 2
1-43308308-T-C c.833T>C p.F278S Missense 12/12 - 1
1-43308309-C-A c.834C>A p.F278L Missense 12/12 - 1
1-43308309-C-T c.834C>T p.F278= Synonymous 12/12 - 1
1-43308310-G-A c.835G>A p.V279I Missense 12/12 - 3
1-43308316-A-G c.841A>G p.S281G Missense 12/12 - 1
1-43308322-C-G c.847C>G p.L283V Missense 12/12 - 1
1-43308331-G-A c.856G>A p.E286K Missense 12/12 - 1
1-43308332-A-G c.857A>G p.E286G Missense 12/12 - 1
1-43308341-C-A c.866C>A p.T289K Missense 12/12 - 1
1-43308341-C-T c.866C>T p.T289M Missense 12/12 - 1
1-43308354-C-T c.879C>T p.H293= Synonymous 12/12 - 1
1-43308363-G-A c.888G>A p.E296= Synonymous 12/12 - 1
1-43308364-G-A c.889G>A p.V297M Missense 12/12 - 1
1-43308367-T-C c.892T>C p.Y298H Missense 12/12 - 3
1-43308368-A-T c.893A>T p.Y298F Missense 12/12 - 5
1-43308370-G-A c.895G>A p.V299M Missense 12/12 - 4
1-43308371-T-C c.896T>C p.V299A Missense 12/12 - 2
1-43308373-G-A c.898G>A p.G300R Missense 12/12 - 1
1-43308383-C-CCT c.909_910insTC p.K304Sfs*12 Frameshift 12/12 - 1
1-43308386-A-G c.911A>G p.K304R Missense 12/12 - 3
1-43308386-A-T c.911A>T p.K304I Missense 12/12 - 1
1-43308394-C-A c.919C>A p.L307I Missense 12/12 - 1
1-43308395-T-C c.920T>C p.L307P Missense 12/12 - 1
1-43308402-A-G c.927A>G p.V309= Synonymous 12/12 - 1
1-43308409-G-C c.934G>C p.E312Q Missense 12/12 - 1
1-43308413-C-G c.938C>G p.S313* Nonsense 12/12 - 1
1-43308414-A-T c.939A>T p.S313= Synonymous 12/12 - 1
1-43308420-C-T c.945C>T p.S315= Synonymous 12/12 - 2
1-43308424-A-C c.949A>C p.K317Q Missense 12/12 - 1
1-43308428-G-T c.953G>T p.G318V Missense 12/12 - 1
1-43308432-G-A c.957G>A p.K319= Synonymous 12/12 - 1
1-43308436-A-C c.961A>C p.T321P Missense 12/12 - 1
1-43308443-CA-TT c.968_969delinsTT p.S323F Missense 12/12 - 1
1-43308451-A-G c.976A>G p.N326D Missense 12/12 - 5
1-43308453-T-C c.978T>C p.N326= Synonymous 12/12 - 1
1-43308454-GG-AC c.979_980delinsAC p.G327T Missense 12/12 - 1
1-43308460-T-A c.985T>A p.W329R Missense 12/12 - 1
1-43308460-T-C c.985T>C p.W329R Missense 12/12 - 2
1-43308470-G-A c.995G>A p.R332Q Missense 12/12 - 1
1-43308476-G-A c.1001G>A p.S334N Missense 12/12 - 1
1-43308477-T-C c.1002T>C p.S334= Synonymous 12/12 - 1
1-43308478-C-T c.1003C>T p.R335C Missense 12/12 - 3
1-43308479-G-A c.1004G>A p.R335H Missense 12/12 - 1
1-43308480-T-A c.1005T>A p.R335= Synonymous 12/12 - 1
1-43308481-G-A c.1006G>A p.G336R Missense 12/12 - 1
1-43308481-G-C c.1006G>C p.G336R Missense 12/12 - 1
1-43308484-A-G c.1009A>G p.N337D Missense 12/12 - 1
1-43308487-G-A c.1012G>A p.E338K Missense 12/12 - 2
1-43308487-G-T c.1012G>T p.E338* Nonsense 12/12 - 1
1-43308490-T-C c.1015T>C p.Y339H Missense 12/12 - 1
1-43308493-G-C c.1018G>C p.E340Q Missense 12/12 - 1
1-43308497-C-A c.1022C>A p.A341D Missense 12/12 - 1
1-43308498-T-G c.1023T>G p.A341= Synonymous 12/12 - 1
1-43308504-A-G c.1029A>G p.T343= Synonymous 12/12 - 1
1-43308508-C-T c.1033C>T p.P345S Missense 12/12 - 1
1-43308509-C-T c.1034C>T p.P345L Missense 12/12 - 1
1-43308510-G-A c.1035G>A p.P345= Synonymous 12/12 - 1
1-43308512-A-C c.1037A>C p.Q346P Missense 12/12 - 1
1-43308514-A-C c.1039A>C p.T347P Missense 12/12 - 1
1-43308515-C-T c.1040C>T p.T347I Missense 12/12 - 2
1-43308520-T-C c.1045T>C p.F349L Missense 12/12 - 1
1-43308522-C-A c.1047C>A p.F349L Missense 12/12 - 1
1-43308522-C-G c.1047C>G p.F349L Missense 12/12 - 1
1-43308522-C-T c.1047C>T p.F349= Synonymous 12/12 - 1
1-43308523-C-T c.1048C>T p.R350C Missense 12/12 - 1
1-43308524-G-A c.1049G>A p.R350H Missense 12/12 - 4
1-43308527-T-C c.1052T>C p.L351P Missense 12/12 - 1
1-43308539-C-T c.1064C>T p.P355L Missense 12/12 - 1
1-43308541-C-T c.1066C>T p.R356W Missense 12/12 - 5
1-43308542-G-A c.1067G>A p.R356Q Missense 12/12 - 2
1-43308545-G-A c.1070G>A p.C357Y Missense 12/12 - 1
1-43308548-T-C c.1073T>C p.V358A Missense 12/12 - 1
1-43308567-T-C c.1092T>C p.Y364= Synonymous 12/12 - 1
1-43308568-G-A c.1093G>A p.E365K Missense 12/12 - 1
1-43308569-A-C c.1094A>C p.E365A Missense 12/12 - 1
1-43308580-A-G c.1105A>G p.I369V Missense 12/12 - 1
1-43308581-T-C c.1106T>C p.I369T Missense 12/12 - 1
1-43308588-C-G c.1113C>G p.F371L Missense 12/12 - 1
1-43308594-T-C c.1119T>C p.N373= Synonymous 12/12 - 1
1-43308608-C-G c.1133C>G p.S378C Missense 12/12 - 4
1-43308625-A-C c.1150A>C p.T384P Missense 12/12 - 1
1-43308625-A-G c.1150A>G p.T384A Missense 12/12 - 1
1-43308626-ACCC-A c.1151_1153del p.T384_H385delinsN MultiAAMissense 12/12 - 1
1-43308626-C-A c.1151C>A p.T384N Missense 12/12 - 1
1-43308630-C-A c.1155C>A p.H385Q Missense 12/12 - 1
1-43308634-T-C c.1159T>C p.F387L Missense 12/12 - 2
1-43308636-C-A c.1161C>A p.F387L Missense 12/12 - 3
1-43308636-C-G c.1161C>G p.F387L Missense 12/12 - 2
1-43308638-C-G c.1163C>G p.S388C Missense 12/12 - 1
1-43308638-C-T c.1163C>T p.S388F Missense 12/12 - 6
1-43308641-GC-G c.1171del p.L391Ffs*19 Frameshift 12/12 - 1
1-43308646-C-A c.1171C>A p.L391I Missense 12/12 - 1
1-43308649-CGC-TGG c.1174_1176delinsTGG p.R392W Missense 12/12 - 1
1-43308649-C-T c.1174C>T p.R392C Missense 12/12 - 2
1-43308650-G-A c.1175G>A p.R392H Missense 12/12 - 3
1-43308653-C-A c.1178C>A p.P393H Missense 12/12 - 1
1-43308661-G-T c.1186G>T p.E396* Nonsense 12/12 - 1
1-43308664-C-G c.1189C>G p.P397A Missense 12/12 - 1
1-43308668-G-T c.1193G>T p.C398F Missense 12/12 - 1
1-43308670-C-T c.1195C>T p.L399F Missense 12/12 - 2
1-43308676-G-A c.1201G>A p.D401N Missense 12/12 - 1
1-43308679-GGA-AGC c.1204_1206delinsAGC p.G402S Missense 12/12 - 1
1-43308683-G-A c.1208G>A p.G403E Missense 12/12 - 2
1-43308683-G-T c.1208G>T p.G403V Missense 12/12 - 1
1-43308685-A-G c.1210A>G p.K404E Missense 12/12 - 2
1-43308683-G-GA c.1214dup p.N405Kfs*29 Frameshift 12/12 - 4
1-43308691-A-G c.1216A>G p.T406A Missense 12/12 - 3
1-43308692-C-T c.1217C>T p.T406I Missense 12/12 - 1
1-43308696-A-AGC c.1221_1222insGC p.P408Afs*3 Frameshift 12/12 - 1
1-43308702-A-T c.1227A>T p.L409= Synonymous 12/12 - 1
1-43308715-G-A c.1240G>A p.E414K Missense 12/12 - 1
1-43308715-G-C c.1240G>C p.E414Q Missense 12/12 - 1
1-43308716-A-G c.1241A>G p.E414G Missense 12/12 - 1
1-43308721-C-T c.1246C>T p.H416Y Missense 12/12 - 1
1-43308729-A-C c.1254A>C p.S418= Synonymous 12/12 - 1
1-43308729-A-G c.1254A>G p.S418= Synonymous 12/12 - 1
1-43308729-A-T c.1254A>T p.S418= Synonymous 12/12 - 1
1-43308732-G-C c.1257G>C p.E419D Missense 12/12 - 1
1-43308732-G-T c.1257G>T p.E419D Missense 12/12 - 2
1-43308742-G-A c.1267G>A p.V423I Missense 12/12 - 1
1-43308742-G-T c.1267G>T p.V423F Missense 12/12 - 6
1-43308747-C-T c.1272C>T p.P424= Synonymous 12/12 - 1
1-43308752-C-T c.1277C>T p.P426L Missense 12/12 - 1
1-43308754-G-T c.1279G>T p.E427* Nonsense 12/12 - 1
1-43308757-G-T c.1282G>T p.G428W Missense 12/12 - 1
1-43308763-G-A c.1288G>A p.G430S Missense 12/12 - 1
1-43308770-C-G c.1295C>G p.A432G Missense 12/12 - 2
1-43308785-C-T c.1310C>T p.S437F Missense 12/12 - 3
1-43308787-C-G c.1312C>G p.L438V Missense 12/12 - 1
1-43308789-C-A c.1314C>A p.L438= Synonymous 12/12 - 1
1-43308789-C-G c.1314C>G p.L438= Synonymous 12/12 - 1
1-43308789-C-T c.1314C>T p.L438= Synonymous 12/12 - 2
1-43308789-TC-T c.1314del p.K439Rfs*2 Frameshift 12/12 - 1
1-43308792-G-T c.1317G>T p.K439N Missense 12/12 - 1
1-43308793-G-C c.1318G>C p.V440L Missense 12/12 - 1
1-43308795-G-A c.1320G>A p.V440= Synonymous 12/12 - 2
1-43308795-G-C c.1320G>C p.V440= Synonymous 12/12 - 1
1-43308795-G-T c.1320G>T p.V440= Synonymous 12/12 - 1
1-43308798-C-A c.1323C>A p.N441K Missense 12/12 - 1
1-43308798-C-G c.1323C>G p.N441K Missense 12/12 - 1
1-43308803-C-A c.1328C>A p.S443Y Missense 12/12 - 1
1-43308803-C-T c.1328C>T p.S443F Missense 12/12 - 1
1-43308805-T-G c.1330T>G p.L444V Missense 12/12 - 2
1-43308806-T-A c.1331T>A p.L444* Nonsense 12/12 - 1
1-43308806-T-G c.1331T>G p.L444* Nonsense 12/12 - 1
1-43308807-A-C c.1332A>C p.L444F Missense 12/12 - 1
1-43308807-A-T c.1332A>T p.L444F Missense 12/12 - 1
1-43308811-C-T c.1336C>T p.P446S Missense 12/12 - 1
1-43308814-C-A c.1339C>A p.P447T Missense 12/12 - 1
1-43308815-C-G c.1340C>G p.P447R Missense 12/12 - 1
1-43308815-C-T c.1340C>T p.P447L Missense 12/12 - 1
1-43308816-G-A c.1341G>A p.P447= Synonymous 12/12 - 3
1-43308816-G-C c.1341G>C p.P447= Synonymous 12/12 - 2
1-43308816-G-T c.1341G>T p.P447= Synonymous 12/12 - 2
1-43308820-G-T c.1345G>T p.A449S Missense 12/12 - 1
1-43308823-C-T c.1348C>T p.P450S Missense 12/12 - 1
1-43308839-T-C c.1364T>C p.I455T Missense 12/12 - 1
1-43308843-C-A c.1368C>A p.I456= Synonymous 12/12 - 1
1-43308843-C-T c.1368C>T p.I456= Synonymous 12/12 - 1
1-43308844-C-A c.1369C>A p.L457M Missense 12/12 - 1
1-43308845-T-C c.1370T>C p.L457P Missense 12/12 - 1
1-43308847-T-A c.1372T>A p.S458T Missense 12/12 - 1
1-43308848-C-G c.1373C>G p.S458C Missense 12/12 - 6
1-43308853-C-T c.1378C>T p.P460S Missense 12/12 - 4
1-43308855-C-A c.1380C>A p.P460= Synonymous 12/12 - 2
1-43308855-C-G c.1380C>G p.P460= Synonymous 12/12 - 2
1-43308855-C-T c.1380C>T p.P460= Synonymous 12/12 - 5
1-43308856-C-A c.1381C>A p.P461T Missense 12/12 - 1
1-43308856-C-G c.1381C>G p.P461A Missense 12/12 - 2
1-43308856-C-T c.1381C>T p.P461S Missense 12/12 - 1
1-43308867-C-T c.1392C>T p.G464= Synonymous 12/12 - 1
1-43308868-C-T c.1393C>T p.P465S Missense 12/12 - 1
1-43308873-C-G c.1398C>G p.A466= Synonymous 12/12 - 1
1-43308877-C-T c.1402C>T p.Q468* Nonsense 12/12 - 2
1-43308883-C-T c.1408C>T p.L470F Missense 12/12 - 1
1-43308889-G-A c.1414G>A p.A472T Missense 12/12 - 1
1-43308892-C-A c.1417C>A p.P473T Missense 12/12 - 1
1-43308892-C-T c.1417C>T p.P473S Missense 12/12 - 4
1-43308893-C-G c.1418C>G p.P473R Missense 12/12 - 1
1-43308892-CCTT-C c.1421_1423del p.S474del InFrameDeletion 12/12 - 1
1-43308898-T-A c.1423T>A p.F475I Missense 12/12 - 2
1-43309383-G-T c.*480G>T - 3-UTRSNV 12/12 - 1
1-43309548-G-A c.*645G>A - 3-UTRSNV 12/12 - 2
1-43309842-G-C c.*939G>C - 3-UTRSNV 12/12 - 5