NUCB1

NUCB1 nucleobindin 1

Annotation transcript: NM_006184.6

606 unique variant annotations were identified in 331 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
19-49404057-C-G c.4C>G p.P2A Missense 2/13 - 1
19-49404060-C-T c.7C>T p.P3S Missense 2/13 - 1
19-49404064-C-T c.11C>T p.S4F Missense 2/13 - 1
19-49404072-C-A c.19C>A p.R7= Synonymous 2/13 - 1
19-49404074-A-C c.21A>C p.R7= Synonymous 2/13 - 1
19-49404074-A-G c.21A>G p.R7= Synonymous 2/13 - 1
19-49404074-A-T c.21A>T p.R7= Synonymous 2/13 - 1
19-49404073-G-A c.20G>A p.R7Q Missense 2/13 - 1
19-49404075-G-T c.22G>T p.G8* Nonsense 2/13 - 1
19-49404077-A-C c.24A>C p.G8= Synonymous 2/13 - 1
19-49404080-C-T c.27C>T p.T9= Synonymous 2/13 - 3
19-49404081-CTC-GAG c.28_30inv p.L10E Missense 2/13 - 1
19-49404081-CT-GC c.28_29delinsGC p.L10A Missense 2/13 - 1
19-49404082-T-C c.29T>C p.L10P Missense 2/13 - 1
19-49404083-C-T c.30C>T p.L10= Synonymous 2/13 - 1
19-49404086-T-A c.33T>A p.L11= Synonymous 2/13 - 1
19-49404086-T-C c.33T>C p.L11= Synonymous 2/13 - 1
19-49404086-T-G c.33T>G p.L11= Synonymous 2/13 - 1
19-49404088-T-C c.35T>C p.L12P Missense 2/13 - 2
19-49404089-G-C c.36G>C p.L12= Synonymous 2/13 - 1
19-49404090-TT-GC c.37_38delinsGC p.L13A Missense 2/13 - 2
19-49404097-T-C c.44T>C p.L15P Missense 2/13 - 1
19-49404100-T-A c.47T>A p.L16Q Missense 2/13 - 1
19-49404099-C-T c.46C>T p.L16= Synonymous 2/13 - 1
19-49404101-G-A c.48G>A p.L16= Synonymous 2/13 - 1
19-49404101-G-C c.48G>C p.L16= Synonymous 2/13 - 1
19-49404101-G-T c.48G>T p.L16= Synonymous 2/13 - 1
19-49404102-C-G c.49C>G p.L17V Missense 2/13 - 1
19-49404105-CTG-TTT c.52_54delinsTTT p.L18F Missense 2/13 - 1
19-49404094-CGCT-C c.54_56del p.L21del InFrameDeletion 2/13 - 2
19-49404117-C-T c.64C>T p.R22C Missense 2/13 - 5
19-49404119-C-A c.66C>A p.R22= Synonymous 2/13 - 1
19-49404119-C-G c.66C>G p.R22= Synonymous 2/13 - 1
19-49404119-C-T c.66C>T p.R22= Synonymous 2/13 - 4
19-49404120-G-A c.67G>A p.A23T Missense 2/13 - 2
19-49404120-G-T c.67G>T p.A23S Missense 2/13 - 1
19-49404121-C-T c.68C>T p.A23V Missense 2/13 - 1
19-49404122-C-A c.69C>A p.A23= Synonymous 2/13 - 1
19-49404122-C-G c.69C>G p.A23= Synonymous 2/13 - 1
19-49404122-C-T c.69C>T p.A23= Synonymous 2/13 - 1
19-49404123-GTG-TTT c.70_72delinsTTT p.V24F Missense 2/13 - 1
19-49404125-G-A c.72G>A p.V24= Synonymous 2/13 - 4
19-49404125-G-C c.72G>C p.V24= Synonymous 2/13 - 3
19-49404125-G-T c.72G>T p.V24= Synonymous 2/13 - 3
19-49404126-CTG-ATC c.73_75delinsATC p.L25I Missense 2/13 - 1
19-49404129-G-C c.76G>C p.A26P Missense 2/13 - 3
19-49404129-GC-AT c.76_77delinsAT p.A26I Missense 2/13 - 1
19-49404129-GC-TA c.76_77delinsTA p.A26Y Missense 2/13 - 1
19-49404129-GC-TG c.76_77delinsTG p.A26C Missense 2/13 - 2
19-49404129-GC-TT c.76_77delinsTT p.A26F Missense 2/13 - 2
19-49404129-GCT-TAA c.76_78delinsTAA p.A26* Nonsense 2/13 - 1
19-49404130-C-G c.77C>G p.A26G Missense 2/13 - 1
19-49404133-T-C c.80T>C p.V27A Missense 2/13 - 1
19-49404133-TC-AG c.80_81delinsAG p.V27E Missense 2/13 - 1
19-49404135-CCC-GAG c.82_84delinsGAG p.P28E Missense 2/13 - 1
19-49404135-C-G c.82C>G p.P28A Missense 2/13 - 1
19-49404135-C-T c.82C>T p.P28S Missense 2/13 - 1
19-49404138-C-G c.85C>G p.L29V Missense 2/13 - 1
19-49404138-CT-GA c.85_86delinsGA p.L29E Missense 2/13 - 1
19-49404140-G-A c.87G>A p.L29= Synonymous 2/13 - 1
19-49404144-CG-GC c.91_92delinsGC p.R31A Missense 2/13 - 1
19-49404144-C-T c.91C>T p.R31* Nonsense 2/13 - 2
19-49404145-G-A c.92G>A p.R31Q Missense 2/13 - 2
19-49404147-G-A c.94G>A p.G32R Missense 2/13 - 1
19-49404147-G-C c.94G>C p.G32R Missense 2/13 - 3
19-49404148-GG-AC c.95_96delinsAC p.G32D Missense 2/13 - 1
19-49404148-G-T c.95G>T p.G32V Missense 2/13 - 1
19-49404151-C-A c.98C>A p.A33E Missense 2/13 - 1
19-49404151-C-T c.98C>T p.A33V Missense 2/13 - 1
19-49404154-C-A c.101C>A p.P34H Missense 2/13 - 1
19-49404154-C-G c.101C>G p.P34R Missense 2/13 - 1
19-49404156-AA-CT c.103_104delinsCT p.N35L Missense 2/13 - 1
19-49404156-A-G c.103A>G p.N35D Missense 2/13 - 1
19-49404161-G-A c.108G>A p.K36= Synonymous 2/13 - 1
19-49404165-G-C c.112G>C p.E38Q Missense 2/13 - 1
19-49404172-C-T c.119C>T p.P40L Missense 2/13 - 1
19-49404174-G-A c.121G>A p.A41T Missense 2/13 - 1
19-49404175-C-A c.122C>A p.A41E Missense 2/13 - 1
19-49404175-C-T c.122C>T p.A41V Missense 2/13 - 1
19-49404178-C-T c.125C>T p.T42I Missense 2/13 - 1
19-49404179-T-A c.126T>A p.T42= Synonymous 2/13 - 1
19-49404179-T-C c.126T>C p.T42= Synonymous 2/13 - 1
19-49404179-T-G c.126T>G p.T42= Synonymous 2/13 - 2
19-49404180-G-C c.127G>C p.E43Q Missense 2/13 - 2
19-49404183-A-T c.130A>T p.S44C Missense 2/13 - 1
19-49404186-C-G c.133C>G p.P45A Missense 2/13 - 2
19-49404187-C-T c.134C>T p.P45L Missense 2/13 - 1
19-49404188-C-T c.135C>T p.P45= Synonymous 2/13 - 2
19-49404393-C-T c.135+205C>T - IntronicSNV - 2/12 2
19-49407568-G-A c.136-36G>A - IntronicSNV - 2/12 1
19-49407607-A-C c.139A>C p.T47P Missense 3/13 - 1
19-49407607-ACA-GAC c.139_141delinsGAC p.T47D Missense 3/13 - 2
19-49407611-G-C c.143G>C p.G48A Missense 3/13 - 1
19-49407613-C-A c.145C>A p.L49M Missense 3/13 - 1
19-49407615-G-A c.147G>A p.L49= Synonymous 3/13 - 1
19-49407615-G-C c.147G>C p.L49= Synonymous 3/13 - 1
19-49407625-C-T c.157C>T p.R53W Missense 3/13 - 1
19-49407626-G-T c.158G>T p.R53L Missense 3/13 - 1
19-49407629-A-G c.161A>G p.Y54C Missense 3/13 - 1
19-49407630-C-G c.162C>G p.Y54* Nonsense 3/13 - 1
19-49407635-A-T c.167A>T p.Q56L Missense 3/13 - 1
19-49407641-T-C c.173T>C p.V58A Missense 3/13 - 1
19-49407644-T-G c.176T>G p.I59S Missense 3/13 - 1
19-49407646-G-A c.178G>A p.D60N Missense 3/13 - 9
19-49407650-T-G c.182T>G p.V61G Missense 3/13 - 1
19-49407652-C-G c.184C>G p.L62V Missense 3/13 - 2
19-49407652-CTG-TTT c.184_186delinsTTT p.L62F Missense 3/13 - 1
19-49407659-C-T c.191C>T p.T64M Missense 3/13 - 6
19-49407660-G-A c.192G>A p.T64= Synonymous 3/13 - 9
19-49407660-G-C c.192G>C p.T64= Synonymous 3/13 - 1
19-49407660-G-T c.192G>T p.T64= Synonymous 3/13 - 1
19-49407661-G-A c.193G>A p.D65N Missense 3/13 - 1
19-49407662-A-C c.194A>C p.D65A Missense 3/13 - 1
19-49407667-CA-GC c.199_200delinsGC p.H67A Missense 3/13 - 1
19-49407670-T-C c.202T>C p.F68L Missense 3/13 - 1
19-49407672-C-A c.204C>A p.F68L Missense 3/13 - 1
19-49407672-C-G c.204C>G p.F68L Missense 3/13 - 1
19-49407671-T-G c.203T>G p.F68C Missense 3/13 - 1
19-49407673-CG-GC c.205_206delinsGC p.R69A Missense 3/13 - 1
19-49407674-G-A c.206G>A p.R69Q Missense 3/13 - 1
19-49407676-AGAG-A c.208_210del p.E70del InFrameDeletion 3/13 - 1
19-49407677-A-C c.209A>C p.E70A Missense 3/13 - 3
19-49407681-G-C c.213G>C p.K71N Missense 3/13 - 1
19-49407681-G-T c.213G>T p.K71N Missense 3/13 - 1
19-49407687-G-A c.219G>A p.Q73= Synonymous 3/13 - 1
19-49407692-C-T c.224C>T p.A75V Missense 3/13 - 1
19-49407695-A-G c.227A>G p.N76S Missense 3/13 - 1
19-49407702-G-A c.234G>A p.E78= Synonymous 3/13 - 2
19-49407702-G-C c.234G>C p.E78D Missense 3/13 - 1
19-49407702-G-T c.234G>T p.E78D Missense 3/13 - 1
19-49407715-C-A c.243+4C>A - IntronicSNV - 3/12 3
19-49407715-C-G c.243+4C>G - IntronicSNV - 3/12 3
19-49407715-C-T c.243+4C>T - IntronicSNV - 3/12 4
19-49407733-C-G c.243+22C>G - IntronicSNV - 3/12 1
19-49407733-C-T c.243+22C>T - IntronicSNV - 3/12 2
19-49407784-TC-T c.243+73del - IntronicDeletion - 3/12 1
19-49407784-CT-C c.243+88del - IntronicDeletion - 3/12 1
19-49408943-T-C c.244-67T>C - IntronicSNV - 3/12 3
19-49409004-T-C c.244-6T>C - IntronicSNV - 3/12 3
19-49409012-C-T c.246C>T p.S82= Synonymous 4/13 - 1
19-49409017-A-G c.251A>G p.K84R Missense 4/13 - 1
19-49409019-C-G c.253C>G p.L85V Missense 4/13 - 1
19-49409026-G-A c.260G>A p.R87Q Missense 4/13 - 12
19-49409026-G-C c.260G>C p.R87P Missense 4/13 - 1
19-49409028-G-A c.262G>A p.E88K Missense 4/13 - 1
19-49409042-C-A c.276C>A p.V92= Synonymous 4/13 - 1
19-49409042-C-G c.276C>G p.V92= Synonymous 4/13 - 1
19-49409042-C-T c.276C>T p.V92= Synonymous 4/13 - 1
19-49409046-C-T c.280C>T p.H94Y Missense 4/13 - 1
19-49409047-A-C c.281A>C p.H94P Missense 4/13 - 1
19-49409047-A-G c.281A>G p.H94R Missense 4/13 - 2
19-49409050-A-C c.284A>C p.H95P Missense 4/13 - 3
19-49409052-G-A c.286G>A p.V96I Missense 4/13 - 1
19-49409055-C-T c.289C>T p.R97C Missense 4/13 - 4
19-49409056-G-A c.290G>A p.R97H Missense 4/13 - 2
19-49409056-GC-AA c.290_291delinsAA p.R97Q Missense 4/13 - 1
19-49409058-AC-GG c.292_293delinsGG p.T98G Missense 4/13 - 4
19-49409063-G-A c.297G>A p.K99= Synonymous 4/13 - 1
19-49409067-G-T c.301G>T p.D101Y Missense 4/13 - 2
19-49409068-A-G c.302A>G p.D101G Missense 4/13 - 1
19-49409080-G-A c.314G>A p.R105Q Missense 4/13 - 1
19-49409083-CA-C c.317del p.Q106Rfs*27 Frameshift 4/13 - 1
19-49409095-G-A c.329G>A p.R110Q Missense 4/13 - 1
19-49409100-CG-GC c.334_335delinsGC p.R112A Missense 4/13 - 1
19-49409100-C-T c.334C>T p.R112W Missense 4/13 - 3
19-49409101-G-A c.335G>A p.R112Q Missense 4/13 - 1
19-49409105-G-A c.339G>A p.M113I Missense 4/13 - 1
19-49409105-G-C c.339G>C p.M113I Missense 4/13 - 1
19-49409105-G-T c.339G>T p.M113I Missense 4/13 - 1
19-49409107-T-C c.341T>C p.L114P Missense 4/13 - 1
19-49409111-C-G c.345C>G p.L115= Synonymous 4/13 - 1
19-49409113-AG-A c.349del p.A117Pfs*16 Frameshift 4/13 - 1
19-49409122-T-A c.356T>A p.M119K Missense 4/13 - 1
19-49409124-G-T c.358G>T p.D120Y Missense 4/13 - 1
19-49409126-C-T c.360C>T p.D120= Synonymous 4/13 - 2
19-49409129-C-A c.363C>A p.A121= Synonymous 4/13 - 1
19-49409129-C-G c.363C>G p.A121= Synonymous 4/13 - 1
19-49409129-C-T c.363C>T p.A121= Synonymous 4/13 - 1
19-49409131-A-C c.365A>C p.E122A Missense 4/13 - 1
19-49409136-G-T c.370G>T p.D124Y Missense 4/13 - 1
19-49409139-C-G c.373C>G p.P125A Missense 4/13 - 1
19-49409139-C-T c.373C>T p.P125S Missense 4/13 - 5
19-49409182-T-G c.376+40T>G - IntronicSNV - 4/12 1
19-49409197-TCACTC-T c.376+57_376+61del - IntronicDeletion - 4/12 1
19-49409221-TGTGCTAGGCAG-T c.376+83_376+93del - IntronicDeletion - 4/12 1
19-49410920-G-A c.376+1778G>A - IntronicSNV - 4/12 1
19-49410920-G-T c.376+1778G>T - IntronicSNV - 4/12 1
19-49414408-G-C c.379G>C p.V127L Missense 5/13 - 1
19-49414408-G-T c.379G>T p.V127L Missense 5/13 - 1
19-49414418-A-G c.389A>G p.D130G Missense 5/13 - 1
19-49414429-CTC-ATG c.400_402delinsATG p.L134M Missense 5/13 - 1
19-49414430-T-C c.401T>C p.L134P Missense 5/13 - 1
19-49414431-C-T c.402C>T p.L134= Synonymous 5/13 - 1
19-49414432-CTG-TTT c.403_405delinsTTT p.L135F Missense 5/13 - 1
19-49414432-CT-TC c.403_404delinsTC p.L135S Missense 5/13 - 1
19-49414439-A-G c.410A>G p.Q137R Missense 5/13 - 3
19-49414442-T-C c.413T>C p.F138S Missense 5/13 - 1
19-49414444-G-A c.415G>A p.E139K Missense 5/13 - 2
19-49414444-G-C c.415G>C p.E139Q Missense 5/13 - 1
19-49414450-C-T c.421C>T p.L141= Synonymous 5/13 - 1
19-49414451-T-C c.422T>C p.L141P Missense 5/13 - 1
19-49414457-C-T c.428C>T p.P143L Missense 5/13 - 2
19-49414464-C-G c.435C>G p.N145K Missense 5/13 - 1
19-49414464-C-T c.435C>T p.N145= Synonymous 5/13 - 1
19-49414468-CA-GC c.439_440delinsGC p.H147A Missense 5/13 - 1
19-49414468-C-G c.439C>G p.H147D Missense 5/13 - 3
19-49414470-T-A c.441T>A p.H147Q Missense 5/13 - 1
19-49414470-T-G c.441T>G p.H147Q Missense 5/13 - 1
19-49414473-A-C c.444A>C p.T148= Synonymous 5/13 - 1
19-49414473-A-G c.444A>G p.T148= Synonymous 5/13 - 1
19-49414473-A-T c.444A>T p.T148= Synonymous 5/13 - 1
19-49414474-T-C c.445T>C p.F149L Missense 5/13 - 1
19-49414476-C-T c.447C>T p.F149= Synonymous 5/13 - 4
19-49414477-G-A c.448G>A p.E150K Missense 5/13 - 1
19-49414478-A-C c.449A>C p.E150A Missense 5/13 - 1
19-49414484-G-A c.455G>A p.R152H Missense 5/13 - 2
19-49414486-G-A c.457G>A p.D153N Missense 5/13 - 3
19-49414493-A-G c.464A>G p.E155G Missense 5/13 - 1
19-49414493-A-T c.464A>T p.E155V Missense 5/13 - 1
19-49414500-G-A c.471G>A p.L157= Synonymous 5/13 - 1
19-49414500-G-T c.471G>T p.L157= Synonymous 5/13 - 1
19-49414506-G-A c.477G>A p.Q159= Synonymous 5/13 - 1
19-49414508-C-T c.479C>T p.T160M Missense 5/13 - 1
19-49414514-T-C c.480+5T>C - IntronicSNV - 5/12 1
19-49414662-C-T c.480+153C>T - IntronicSNV - 5/12 1
19-49416272-CC-TG c.485_486delinsTG p.T162M Missense 6/13 - 1
19-49416274-CG-GC c.487_488delinsGC p.R163A Missense 6/13 - 1
19-49416275-G-A c.488G>A p.R163Q Missense 6/13 - 1
19-49416275-GG-AT c.488_489delinsAT p.R163H Missense 6/13 - 1
19-49416280-C-A c.493C>A p.L165I Missense 6/13 - 2
19-49416291-C-T c.504C>T p.Y168= Synonymous 6/13 - 1
19-49416294-C-T c.507C>T p.D169= Synonymous 6/13 - 2
19-49416303-T-A c.516T>A p.H172Q Missense 6/13 - 5
19-49416303-T-G c.516T>G p.H172Q Missense 6/13 - 1
19-49416305-A-G c.518A>G p.H173R Missense 6/13 - 1
19-49416310-G-C c.523G>C p.E175Q Missense 6/13 - 1
19-49416312-G-C c.525G>C p.E175D Missense 6/13 - 1
19-49416312-G-T c.525G>T p.E175D Missense 6/13 - 1
19-49416319-C-A c.532C>A p.R178S Missense 6/13 - 1
19-49416319-CGC-AAG c.532_534delinsAAG p.R178K Missense 6/13 - 1
19-49416319-C-T c.532C>T p.R178C Missense 6/13 - 3
19-49416320-G-T c.533G>T p.R178L Missense 6/13 - 1
19-49416325-G-A c.538G>A p.E180K Missense 6/13 - 1
19-49416331-CT-GG c.544_545delinsGG p.L182G Missense 6/13 - 1
19-49416342-C-T c.555C>T p.H185= Synonymous 6/13 - 2
19-49416345-G-C c.558G>C p.E186D Missense 6/13 - 1
19-49416347-G-A c.560G>A p.R187K Missense 6/13 - 1
19-49416349-C-A c.562C>A p.R188= Synonymous 6/13 - 2
19-49416349-C-T c.562C>T p.R188W Missense 6/13 - 2
19-49416351-G-A c.564G>A p.R188= Synonymous 6/13 - 2
19-49416351-G-C c.564G>C p.R188= Synonymous 6/13 - 2
19-49416351-G-T c.564G>T p.R188= Synonymous 6/13 - 2
19-49416352-C-T c.565C>T p.R189C Missense 6/13 - 4
19-49416353-G-A c.566G>A p.R189H Missense 6/13 - 1
19-49416355-T-G c.568T>G p.Y190D Missense 6/13 - 1
19-49416358-C-A c.571C>A p.L191M Missense 6/13 - 1
19-49416359-T-G c.572T>G p.L191R Missense 6/13 - 1
19-49416361-G-A c.574G>A p.E192K Missense 6/13 - 4
19-49416366-A-G c.579A>G p.S193= Synonymous 6/13 - 2
19-49416368-T-A c.581T>A p.L194Q Missense 6/13 - 1
19-49416373-G-C c.586G>C p.E196Q Missense 6/13 - 1
19-49416380-A-C c.593A>C p.Q198P Missense 6/13 - 1
19-49416382-AGA-CAT c.595_597delinsCAT p.R199H Missense 6/13 - 1
19-49416383-G-C c.596G>C p.R199T Missense 6/13 - 1
19-49416383-G-T c.596G>T p.R199I Missense 6/13 - 1
19-49416386-AG-TC c.599_600delinsTC p.K200I Missense 6/13 - 1
19-49416393-G-A c.606G>A p.A202= Synonymous 6/13 - 1
19-49416395-A-T c.608A>T p.E203V Missense 6/13 - 2
19-49416396-G-A c.609G>A p.E203= Synonymous 6/13 - 1
19-49416397-AG-TA c.610_611delinsTA p.R204* Nonsense 6/13 - 1
19-49416398-G-C c.611G>C p.R204T Missense 6/13 - 1
19-49416400-AA-GC c.613_614delinsGC p.K205A Missense 6/13 - 1
19-49416401-A-G c.614A>G p.K205R Missense 6/13 - 1
19-49416402-G-A c.615G>A p.K205= Synonymous 6/13 - 1
19-49416404-T-G c.617T>G p.L206R Missense 6/13 - 2
19-49416411-G-A c.624G>A p.E208= Synonymous 6/13 - 1
19-49416413-A-G c.626A>G p.Q209R Missense 6/13 - 1
19-49416418-C-T c.631C>T p.R211C Missense 6/13 - 1
19-49416419-G-A c.632G>A p.R211H Missense 6/13 - 3
19-49416421-C-T c.634C>T p.R212W Missense 6/13 - 1
19-49416424-C-T c.637C>T p.H213Y Missense 6/13 - 1
19-49416426-C-A c.639C>A p.H213Q Missense 6/13 - 1
19-49416426-C-G c.639C>G p.H213Q Missense 6/13 - 1
19-49416427-C-T c.640C>T p.R214C Missense 6/13 - 1
19-49416428-G-A c.641G>A p.R214H Missense 6/13 - 3
19-49416432-G-A c.645G>A p.E215= Synonymous 6/13 - 1
19-49416433-C-A c.646C>A p.H216N Missense 6/13 - 1
19-49416435-C-T c.648C>T p.H216= Synonymous 6/13 - 3
19-49416437-C-T c.650C>T p.P217L Missense 6/13 - 2
19-49416442-G-A c.655G>A p.V219I Missense 6/13 - 1
19-49416447-C-T c.660C>T p.N220= Synonymous 6/13 - 1
19-49416448-G-A c.661G>A p.V221M Missense 6/13 - 1
19-49416456-G-A c.666+3G>A - IntronicSNV - 6/12 5
19-49416504-G-C c.666+51G>C - IntronicSNV - 6/12 1
19-49416554-CA-C c.666+108del - IntronicDeletion - 6/12 2
19-49416561-A-C c.666+108A>C - IntronicSNV - 6/12 1
19-49416734-AG-GC c.670_671delinsGC p.S224A Missense 7/13 - 1
19-49416734-AG-GT c.670_671delinsGT p.S224V Missense 7/13 - 1
19-49416734-A-T c.670A>T p.S224C Missense 7/13 - 1
19-49416740-G-A c.676G>A p.A226T Missense 7/13 - 1
19-49416744-A-G c.680A>G p.Q227R Missense 7/13 - 1
19-49416748-G-C c.684G>C p.L228F Missense 7/13 - 1
19-49416748-G-T c.684G>T p.L228F Missense 7/13 - 1
19-49416751-G-C c.687G>C p.K229N Missense 7/13 - 1
19-49416751-G-T c.687G>T p.K229N Missense 7/13 - 1
19-49416755-G-A c.691G>A p.V231M Missense 7/13 - 1
19-49416755-G-T c.691G>T p.V231L Missense 7/13 - 1
19-49416758-TG-GC c.694_695delinsGC p.W232A Missense 7/13 - 1
19-49416759-G-T c.695G>T p.W232L Missense 7/13 - 2
19-49416765-A-C c.701A>C p.E234A Missense 7/13 - 1
19-49416767-C-T c.703C>T p.L235= Synonymous 7/13 - 1
19-49416769-G-A c.705G>A p.L235= Synonymous 7/13 - 1
19-49416769-G-C c.705G>C p.L235= Synonymous 7/13 - 1
19-49416769-G-T c.705G>T p.L235= Synonymous 7/13 - 1
19-49416772-T-A c.708T>A p.D236E Missense 7/13 - 1
19-49416772-T-G c.708T>G p.D236E Missense 7/13 - 1
19-49416773-G-A c.709G>A p.G237R Missense 7/13 - 1
19-49416773-G-T c.709G>T p.G237* Nonsense 7/13 - 2
19-49416776-C-T c.712C>T p.L238= Synonymous 7/13 - 1
19-49416778-G-A c.714G>A p.L238= Synonymous 7/13 - 1
19-49416778-G-C c.714G>C p.L238= Synonymous 7/13 - 1
19-49416778-G-T c.714G>T p.L238= Synonymous 7/13 - 1
19-49416779-G-A c.715G>A p.D239N Missense 7/13 - 1
19-49416781-C-A c.717C>A p.D239E Missense 7/13 - 1
19-49416781-C-G c.717C>G p.D239E Missense 7/13 - 1
19-49416782-CCC-TAA c.718_720delinsTAA p.P240* Nonsense 7/13 - 1
19-49416787-C-A c.723C>A p.N241K Missense 7/13 - 1
19-49416788-AGG-TGT c.724_726delinsTGT p.R242C Missense 7/13 - 1
19-49416788-AG-TA c.724_725delinsTA p.R242* Nonsense 7/13 - 1
19-49416793-T-C c.729T>C p.F243= Synonymous 7/13 - 1
19-49416795-A-T c.731A>T p.N244I Missense 7/13 - 1
19-49416798-C-T c.734C>T p.P245L Missense 7/13 - 2
19-49416799-C-T c.735C>T p.P245= Synonymous 7/13 - 3
19-49416801-A-C c.737A>C p.K246T Missense 7/13 - 1
19-49416806-T-A c.742T>A p.F248I Missense 7/13 - 1
19-49416807-T-C c.743T>C p.F248S Missense 7/13 - 1
19-49416809-T-C c.745T>C p.F249L Missense 7/13 - 1
19-49416811-C-A c.747C>A p.F249L Missense 7/13 - 1
19-49416811-C-G c.747C>G p.F249L Missense 7/13 - 1
19-49416812-A-G c.748A>G p.I250V Missense 7/13 - 1
19-49416813-T-C c.749T>C p.I250T Missense 7/13 - 1
19-49416936-C-T c.757+115C>T - IntronicSNV - 7/12 1
19-49421966-T-C c.758-17T>C - IntronicSNV - 7/12 13
19-49421985-A-G c.760A>G p.I254V Missense 8/13 - 1
19-49421986-T-A c.761T>A p.I254N Missense 8/13 - 1
19-49421987-C-A c.762C>A p.I254= Synonymous 8/13 - 1
19-49421987-C-T c.762C>T p.I254= Synonymous 8/13 - 1
19-49421997-G-A c.772G>A p.G258S Missense 8/13 - 1
19-49421999-T-A c.774T>A p.G258= Synonymous 8/13 - 1
19-49421999-T-C c.774T>C p.G258= Synonymous 8/13 - 1
19-49421999-T-G c.774T>G p.G258= Synonymous 8/13 - 1
19-49422000-G-A c.775G>A p.V259I Missense 8/13 - 2
19-49422011-G-A c.786G>A p.E262= Synonymous 8/13 - 1
19-49422015-G-C c.790G>C p.E264Q Missense 8/13 - 1
19-49422016-A-C c.791A>C p.E264A Missense 8/13 - 1
19-49422016-A-G c.791A>G p.E264G Missense 8/13 - 1
19-49422017-G-C c.792G>C p.E264D Missense 8/13 - 1
19-49422017-G-T c.792G>T p.E264D Missense 8/13 - 1
19-49422024-G-A c.799G>A p.A267T Missense 8/13 - 1
19-49422027-CTC-ATG c.802_804delinsATG p.L268M Missense 8/13 - 1
19-49422035-C-A c.810C>A p.T270= Synonymous 8/13 - 1
19-49422035-C-G c.810C>G p.T270= Synonymous 8/13 - 1
19-49422035-C-T c.810C>T p.T270= Synonymous 8/13 - 1
19-49422039-G-A c.814G>A p.E272K Missense 8/13 - 1
19-49422040-A-G c.815A>G p.E272G Missense 8/13 - 1
19-49422218-G-C c.817-69G>C - IntronicSNV - 8/12 1
19-49422288-T-G c.818T>G p.L273R Missense 9/13 - 1
19-49422290-G-T c.820G>T p.E274* Nonsense 9/13 - 1
19-49422292-G-C c.822G>C p.E274D Missense 9/13 - 3
19-49422292-G-T c.822G>T p.E274D Missense 9/13 - 2
19-49422298-G-A c.828G>A p.V276= Synonymous 9/13 - 1
19-49422298-G-C c.828G>C p.V276= Synonymous 9/13 - 1
19-49422298-G-T c.828G>T p.V276= Synonymous 9/13 - 1
19-49422301-C-T c.831C>T p.Y277= Synonymous 9/13 - 2
19-49422302-G-A c.832G>A p.D278N Missense 9/13 - 1
19-49422305-C-T c.835C>T p.P279S Missense 9/13 - 1
19-49422310-G-A c.840G>A p.K280= Synonymous 9/13 - 1
19-49422313-T-C c.843T>C p.N281= Synonymous 9/13 - 2
19-49422315-A-G c.845A>G p.E282G Missense 9/13 - 1
19-49422320-G-A c.850G>A p.D284N Missense 9/13 - 1
19-49422322-C-A c.852C>A p.D284E Missense 9/13 - 2
19-49422322-C-G c.852C>G p.D284E Missense 9/13 - 1
19-49422329-C-T c.859C>T p.R287W Missense 9/13 - 2
19-49422336-T-C c.866T>C p.M289T Missense 9/13 - 1
19-49422337-G-A c.867G>A p.M289I Missense 9/13 - 2
19-49422337-G-C c.867G>C p.M289I Missense 9/13 - 3
19-49422337-G-T c.867G>T p.M289I Missense 9/13 - 4
19-49422341-G-A c.871G>A p.E291K Missense 9/13 - 1
19-49422345-A-G c.875A>G p.E292G Missense 9/13 - 1
19-49422347-CGA-AGC c.877_879delinsAGC p.R293S Missense 9/13 - 1
19-49422348-G-A c.878G>A p.R293Q Missense 9/13 - 1
19-49422350-C-T c.880C>T p.L294= Synonymous 9/13 - 1
19-49422352-G-A c.882G>A p.L294= Synonymous 9/13 - 1
19-49422352-G-C c.882G>C p.L294= Synonymous 9/13 - 1
19-49422352-G-T c.882G>T p.L294= Synonymous 9/13 - 1
19-49422353-CG-GC c.883_884delinsGC p.R295A Missense 9/13 - 2
19-49422354-G-A c.884G>A p.R295H Missense 9/13 - 1
19-49422354-G-T c.884G>T p.R295L Missense 9/13 - 1
19-49422360-G-A c.890G>A p.R297Q Missense 9/13 - 1
19-49422362-G-T c.892G>T p.E298* Nonsense 9/13 - 2
19-49422368-GTG-ATC c.898_900delinsATC p.V300I Missense 9/13 - 1
19-49422370-G-T c.900G>T p.V300= Synonymous 9/13 - 1
19-49422373-G-A c.903G>A p.M301I Missense 9/13 - 1
19-49422373-G-C c.903G>C p.M301I Missense 9/13 - 1
19-49422373-G-T c.903G>T p.M301I Missense 9/13 - 1
19-49422379-T-C c.909T>C p.N303= Synonymous 9/13 - 1
19-49422383-A-G c.909+4A>G - IntronicSNV - 9/12 1
19-49422432-C-T c.910-19C>T - IntronicSNV - 9/12 1
19-49422437-A-G c.910-14A>G - IntronicSNV - 9/12 2
19-49422437-A-T c.910-14A>T - IntronicSNV - 9/12 2
19-49422451-G-A c.910G>A p.V304M Missense 10/13 - 1
19-49422451-G-C c.910G>C p.V304L Missense 10/13 - 1
19-49422451-G-T c.910G>T p.V304L Missense 10/13 - 1
19-49422454-GAC-AAG c.913_915delinsAAG p.D305K Missense 10/13 - 1
19-49422460-A-G c.919A>G p.N307D Missense 10/13 - 1
19-49422462-C-G c.921C>G p.N307K Missense 10/13 - 1
19-49422462-C-T c.921C>T p.N307= Synonymous 10/13 - 1
19-49422463-C-G c.922C>G p.Q308E Missense 10/13 - 3
19-49422475-G-A c.934G>A p.V312M Missense 10/13 - 2
19-49422481-CT-GC c.940_941delinsGC p.L314A Missense 10/13 - 1
19-49422484-G-A c.943G>A p.E315K Missense 10/13 - 1
19-49422486-G-T c.945G>T p.E315D Missense 10/13 - 1
19-49422487-G-C c.946G>C p.E316Q Missense 10/13 - 1
19-49422488-A-C c.947A>C p.E316A Missense 10/13 - 1
19-49422490-T-C c.949T>C p.F317L Missense 10/13 - 1
19-49422492-C-T c.951C>T p.F317= Synonymous 10/13 - 1
19-49422493-CT-GC c.952_953delinsGC p.L318A Missense 10/13 - 1
19-49422495-C-T c.954C>T p.L318= Synonymous 10/13 - 1
19-49422496-G-A c.955G>A p.A319T Missense 10/13 - 1
19-49422496-G-T c.955G>T p.A319S Missense 10/13 - 1
19-49422497-C-T c.956C>T p.A319V Missense 10/13 - 1
19-49422499-T-G c.958T>G p.S320A Missense 10/13 - 1
19-49422505-C-T c.964C>T p.Q322* Nonsense 10/13 - 4
19-49422507-G-C c.966G>C p.Q322H Missense 10/13 - 1
19-49422507-G-T c.966G>T p.Q322H Missense 10/13 - 1
19-49422508-AG-GC c.967_968delinsGC p.R323A Missense 10/13 - 1
19-49422510-G-C c.969G>C p.R323S Missense 10/13 - 1
19-49422510-G-T c.969G>T p.R323S Missense 10/13 - 2
19-49422512-A-C c.971A>C p.K324T Missense 10/13 - 1
19-49422520-GGG-TGT c.979_981delinsTGT p.G327C Missense 10/13 - 1
19-49422522-G-A c.981G>A p.G327= Synonymous 10/13 - 1
19-49422522-G-C c.981G>C p.G327= Synonymous 10/13 - 1
19-49422522-G-GT c.981_982insT p.D328* Nonsense 10/13 - 1
19-49422522-G-T c.981G>T p.G327= Synonymous 10/13 - 1
19-49422519-TG-T c.982del p.D328Tfs*20 Frameshift 10/13 - 1
19-49422523-G-A c.982G>A p.D328N Missense 10/13 - 1
19-49422524-A-C c.983A>C p.D328A Missense 10/13 - 1
19-49422527-C-A c.986C>A p.T329N Missense 10/13 - 3
19-49422527-CC-TG c.986_987delinsTG p.T329M Missense 10/13 - 1
19-49422527-C-T c.986C>T p.T329I Missense 10/13 - 1
19-49422529-G-A c.988G>A p.G330R Missense 10/13 - 3
19-49422529-G-C c.988G>C p.G330R Missense 10/13 - 3
19-49422534-G-C c.993G>C p.E331D Missense 10/13 - 1
19-49422534-G-T c.993G>T p.E331D Missense 10/13 - 1
19-49422541-G-A c.1000G>A p.E334K Missense 10/13 - 1
19-49422542-A-G c.1001A>G p.E334G Missense 10/13 - 1
19-49422652-C-T c.1002+109C>T - IntronicSNV - 10/12 2
19-49422771-A-G c.1002+228A>G - IntronicSNV - 10/12 1
19-49424134-C-T c.1003-277C>T - IntronicSNV - 10/12 2
19-49424217-G-A c.1003-194G>A - IntronicSNV - 10/12 2
19-49424217-G-T c.1003-194G>T - IntronicSNV - 10/12 2
19-49424247-C-T c.1003-164C>T - IntronicSNV - 10/12 5
19-49424354-C-T c.1003-57C>T - IntronicSNV - 10/12 9
19-49424381-C-A c.1003-30C>A - IntronicSNV - 10/12 10
19-49424414-G-C c.1006G>C p.V336L Missense 11/13 - 2
19-49424414-G-T c.1006G>T p.V336L Missense 11/13 - 2
19-49424417-G-A c.1009G>A p.E337K Missense 11/13 - 1
19-49424420-A-G c.1012A>G p.M338V Missense 11/13 - 3
19-49424423-CA-GC c.1015_1016delinsGC p.H339A Missense 11/13 - 1
19-49424423-C-G c.1015C>G p.H339D Missense 11/13 - 1
19-49424434-C-T c.1026C>T p.Y342= Synonymous 11/13 - 1
19-49424438-G-A c.1030G>A p.E344K Missense 11/13 - 3
19-49424441-G-C c.1033G>C p.E345Q Missense 11/13 - 1
19-49424446-G-A c.1038G>A p.E346= Synonymous 11/13 - 2
19-49424447-C-G c.1039C>G p.L347V Missense 11/13 - 1
19-49424447-C-T c.1039C>T p.L347= Synonymous 11/13 - 3
19-49424449-G-A c.1041G>A p.L347= Synonymous 11/13 - 4
19-49424449-G-C c.1041G>C p.L347= Synonymous 11/13 - 3
19-49424449-G-T c.1041G>T p.L347= Synonymous 11/13 - 3
19-49424450-AGG-CAT c.1042_1044delinsCAT p.R348H Missense 11/13 - 1
19-49424450-A-T c.1042A>T p.R348W Missense 11/13 - 1
19-49424454-G-T c.1046G>T p.R349L Missense 11/13 - 1
19-49424462-G-A c.1054G>A p.E352K Missense 11/13 - 1
19-49424464-G-A c.1056G>A p.E352= Synonymous 11/13 - 1
19-49424476-C-A c.1068C>A p.A356= Synonymous 11/13 - 1
19-49424476-C-G c.1068C>G p.A356= Synonymous 11/13 - 1
19-49424476-C-T c.1068C>T p.A356= Synonymous 11/13 - 1
19-49424478-GG-AT c.1070_1071delinsAT p.R357H Missense 11/13 - 1
19-49424479-G-C c.1071G>C p.R357= Synonymous 11/13 - 2
19-49424479-G-T c.1071G>T p.R357= Synonymous 11/13 - 1
19-49424482-G-C c.1074G>C p.E358D Missense 11/13 - 5
19-49424482-G-T c.1074G>T p.E358D Missense 11/13 - 8
19-49424486-G-A c.1078G>A p.E360K Missense 11/13 - 1
19-49424486-G-C c.1078G>C p.E360Q Missense 11/13 - 1
19-49424489-C-T c.1081C>T p.L361= Synonymous 11/13 - 1
19-49424491-G-A c.1083G>A p.L361= Synonymous 11/13 - 1
19-49424491-G-C c.1083G>C p.L361= Synonymous 11/13 - 1
19-49424491-G-T c.1083G>T p.L361= Synonymous 11/13 - 1
19-49424494-T-C c.1086T>C p.N362= Synonymous 11/13 - 1
19-49424507-C-T c.1099C>T p.R367C Missense 11/13 - 6
19-49424513-AG-GC c.1105_1106delinsGC p.S369A Missense 11/13 - 1
19-49424526-A-T c.1118A>T p.E373V Missense 11/13 - 1
19-49424528-G-A c.1120G>A p.A374T Missense 11/13 - 1
19-49424538-G-A c.1130G>A p.R377Q Missense 11/13 - 1
19-49424540-TC-GT c.1132_1133delinsGT p.S378V Missense 11/13 - 1
19-49424540-T-G c.1132T>G p.S378A Missense 11/13 - 1
19-49424545-G-A c.1137G>A p.Q379= Synonymous 11/13 - 1
19-49424547-G-A c.1139G>A p.G380D Missense 11/13 - 1
19-49424560-C-T c.1152C>T p.A384= Synonymous 11/13 - 1
19-49424561-C-A c.1153C>A p.Q385K Missense 11/13 - 1
19-49424566-G-A c.1158G>A p.K386= Synonymous 11/13 - 1
19-49424568-G-A c.1160G>A p.R387K Missense 11/13 - 1
19-49424569-A-G c.1161A>G p.R387= Synonymous 11/13 - 1
19-49424573-C-T c.1165C>T p.L389= Synonymous 11/13 - 1
19-49424578-G-A c.1170G>A p.Q390= Synonymous 11/13 - 1
19-49424581-G-A c.1173G>A p.Q391= Synonymous 11/13 - 1
19-49424628-C-A c.1173+47C>A - IntronicSNV - 11/12 1
19-49424628-C-G c.1173+47C>G - IntronicSNV - 11/12 1
19-49424628-C-T c.1173+47C>T - IntronicSNV - 11/12 1
19-49424925-C-T c.1174-159C>T - IntronicSNV - 11/12 6
19-49425084-G-A c.1174G>A p.A392T Missense 12/13 - 2
19-49425085-C-T c.1175C>T p.A392V Missense 12/13 - 1
19-49425087-G-T c.1177G>T p.V393L Missense 12/13 - 1
19-49425095-C-G c.1185C>G p.H395Q Missense 12/13 - 1
19-49425098-G-A c.1188G>A p.M396I Missense 12/13 - 1
19-49425098-G-C c.1188G>C p.M396I Missense 12/13 - 1
19-49425098-G-T c.1188G>T p.M396I Missense 12/13 - 1
19-49425099-G-A c.1189G>A p.E397K Missense 12/13 - 2
19-49425099-G-C c.1189G>C p.E397Q Missense 12/13 - 1
19-49425101-G-C c.1191G>C p.E397D Missense 12/13 - 1
19-49425101-G-T c.1191G>T p.E397D Missense 12/13 - 1
19-49425103-A-G c.1193A>G p.Q398R Missense 12/13 - 1
19-49425106-G-A c.1196G>A p.R399Q Missense 12/13 - 3
19-49425108-A-C c.1198A>C p.K400Q Missense 12/13 - 1
19-49425111-C-T c.1201C>T p.Q401* Nonsense 12/13 - 1
19-49425127-A-G c.1217A>G p.Q406R Missense 12/13 - 1
19-49425108-AAGC-A c.1218_1220del p.Q407del InFrameDeletion 12/13 - 4
19-49425129-C-T c.1219C>T p.Q407* Nonsense 12/13 - 1
19-49425133-GC-AG c.1223_1224delinsAG p.G408E Missense 12/13 - 1
19-49425145-C-T c.1235C>T p.P412L Missense 12/13 - 1
19-49425151-C-T c.1241C>T p.A414V Missense 12/13 - 1
19-49425156-C-T c.1246C>T p.P416S Missense 12/13 - 2
19-49425157-C-T c.1247C>T p.P416L Missense 12/13 - 3
19-49425158-T-C c.1248T>C p.P416= Synonymous 12/13 - 2
19-49425159-G-C c.1249G>C p.E417Q Missense 12/13 - 4
19-49425162-G-A c.1252G>A p.G418R Missense 12/13 - 5
19-49425162-G-C c.1252G>C p.G418R Missense 12/13 - 3
19-49425187-C-G c.1277C>G p.T426R Missense 12/13 - 1
19-49425264-G-C c.1279+75G>C - IntronicSNV - 12/12 1
19-49425341-T-C c.1279+152T>C - IntronicSNV - 12/12 3
19-49425576-C-T c.1281C>T p.D427= Synonymous 13/13 - 1
19-49425577-G-C c.1282G>C p.D428H Missense 13/13 - 1
19-49425580-G-A c.1285G>A p.V429I Missense 13/13 - 1
19-49425583-C-T c.1288C>T p.P430S Missense 13/13 - 1
19-49425584-C-T c.1289C>T p.P430L Missense 13/13 - 1
19-49425593-C-A c.1298C>A p.A433D Missense 13/13 - 2
19-49425595-C-T c.1300C>T p.P434S Missense 13/13 - 1
19-49425596-C-T c.1301C>T p.P434L Missense 13/13 - 1
19-49425599-C-T c.1304C>T p.A435V Missense 13/13 - 1
19-49425601-G-A c.1306G>A p.G436S Missense 13/13 - 3
19-49425601-G-C c.1306G>C p.G436R Missense 13/13 - 1
19-49425609-G-C c.1314G>C p.Q438H Missense 13/13 - 1
19-49425609-G-T c.1314G>T p.Q438H Missense 13/13 - 1
19-49425615-G-C c.1320G>C p.E440D Missense 13/13 - 1
19-49425615-G-T c.1320G>T p.E440D Missense 13/13 - 2
19-49425616-G-A c.1321G>A p.V441M Missense 13/13 - 5
19-49425618-G-T c.1323G>T p.V441= Synonymous 13/13 - 1
19-49425626-C-A c.1331C>A p.S444* Nonsense 13/13 - 1
19-49425626-C-G c.1331C>G p.S444* Nonsense 13/13 - 2
19-49425627-A-C c.1332A>C p.S444= Synonymous 13/13 - 1
19-49425627-A-G c.1332A>G p.S444= Synonymous 13/13 - 1
19-49425627-A-T c.1332A>T p.S444= Synonymous 13/13 - 1
19-49425629-A-G c.1334A>G p.E445G Missense 13/13 - 1
19-49425631-A-C c.1336A>C p.K446Q Missense 13/13 - 2
19-49425632-A-G c.1337A>G p.K446R Missense 13/13 - 1
19-49425634-A-G c.1339A>G p.K447E Missense 13/13 - 1
19-49425638-T-C c.1343T>C p.L448P Missense 13/13 - 1
19-49425640-C-A c.1345C>A p.L449I Missense 13/13 - 2
19-49425640-C-G c.1345C>G p.L449V Missense 13/13 - 1
19-49425640-C-T c.1345C>T p.L449F Missense 13/13 - 1
19-49425642-C-T c.1347C>T p.L449= Synonymous 13/13 - 1
19-49425643-G-A c.1348G>A p.E450K Missense 13/13 - 2
19-49425645-G-A c.1350G>A p.E450= Synonymous 13/13 - 1
19-49425646-C-A c.1351C>A p.R451= Synonymous 13/13 - 1
19-49425648-G-A c.1353G>A p.R451= Synonymous 13/13 - 1
19-49425648-G-C c.1353G>C p.R451= Synonymous 13/13 - 1
19-49425648-G-T c.1353G>T p.R451= Synonymous 13/13 - 1
19-49425647-G-A c.1352G>A p.R451Q Missense 13/13 - 1
19-49425650-T-G c.1355T>G p.L452R Missense 13/13 - 3
19-49425651-C-G c.1356C>G p.L452= Synonymous 13/13 - 2
19-49425651-C-T c.1356C>T p.L452= Synonymous 13/13 - 1
19-49425652-C-T c.1357C>T p.P453S Missense 13/13 - 3
19-49425655-G-A c.1360G>A p.E454K Missense 13/13 - 1
19-49425655-G-C c.1360G>C p.E454Q Missense 13/13 - 1
19-49425659-T-C c.1364T>C p.V455A Missense 13/13 - 2
19-49425661-G-A c.1366G>A p.E456K Missense 13/13 - 1
19-49425663-G-A c.1368G>A p.E456= Synonymous 13/13 - 1
19-49425663-G-T c.1368G>T p.E456D Missense 13/13 - 1
19-49425665-T-C c.1370T>C p.V457A Missense 13/13 - 2
19-49425669-C-A c.1374C>A p.P458= Synonymous 13/13 - 2
19-49425672-G-A c.1377G>A p.Q459= Synonymous 13/13 - 1
19-49425673-C-G c.1378C>G p.H460D Missense 13/13 - 1
19-49425772-T-C c.*91T>C - 3-UTRSNV 13/13 - 15
19-49425838-G-A c.*157G>A - 3-UTRSNV 13/13 - 12
19-49426065-T-G c.*384T>G - 3-UTRSNV 13/13 - 1
19-49426099-G-A c.*418G>A - 3-UTRSNV 13/13 - 6