QPRT

QPRT quinolinate phosphoribosyltransferase

Annotation transcript: NM_014298.6

364 unique variant annotations were identified in 255 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
16-29690519-A-G c.1A>G p.M1? Missense 1/4 - 1
16-29690525-G-A c.7G>A p.A3T Missense 1/4 - 2
16-29690759-G-T c.13+228G>T - IntronicSNV - 1/3 1
16-29690904-A-G c.13+373A>G - IntronicSNV - 1/3 1
16-29691196-C-A c.13+665C>A - IntronicSNV - 1/3 1
16-29691196-C-T c.13+665C>T - IntronicSNV - 1/3 1
16-29692261-CA-C c.13+1739del - IntronicDeletion - 1/3 1
16-29692414-A-G c.13+1883A>G - IntronicSNV - 1/3 1
16-29697190-AT-A c.13+6667del - IntronicDeletion - 1/3 1
16-29697429-C-A c.13+6898C>A - IntronicSNV - 1/3 1
16-29698625-G-T c.14-7360G>T - IntronicSNV - 1/3 4
16-29699154-A-G c.14-6831A>G - IntronicSNV - 1/3 1
16-29699154-A-T c.14-6831A>T - IntronicSNV - 1/3 1
16-29705854-C-T c.14-131C>T - IntronicSNV - 1/3 5
16-29705974-C-CT c.14-9dup - IntronicInsertion - 1/3 5
16-29706000-T-C c.29T>C p.L10P Missense 2/4 - 1
16-29705999-C-T c.28C>T p.L10= Synonymous 2/4 - 2
16-29706001-G-A c.30G>A p.L10= Synonymous 2/4 - 2
16-29706001-G-C c.30G>C p.L10= Synonymous 2/4 - 2
16-29706001-G-T c.30G>T p.L10= Synonymous 2/4 - 2
16-29706003-C-T c.32C>T p.P11L Missense 2/4 - 1
16-29706004-G-A c.33G>A p.P11= Synonymous 2/4 - 1
16-29706007-C-T c.36C>T p.P12= Synonymous 2/4 - 1
16-29706008-G-A c.37G>A p.V13I Missense 2/4 - 7
16-29706013-C-T c.42C>T p.T14= Synonymous 2/4 - 1
16-29706014-C-T c.43C>T p.L15= Synonymous 2/4 - 1
16-29706016-G-A c.45G>A p.L15= Synonymous 2/4 - 1
16-29706016-G-C c.45G>C p.L15= Synonymous 2/4 - 1
16-29706016-G-T c.45G>T p.L15= Synonymous 2/4 - 2
16-29706017-GCA-TAT c.46_48delinsTAT p.A16Y Missense 2/4 - 1
16-29706017-G-T c.46G>T p.A16S Missense 2/4 - 2
16-29706020-G-A c.49G>A p.A17T Missense 2/4 - 1
16-29706020-GCC-ATG c.49_51delinsATG p.A17M Missense 2/4 - 1
16-29706020-GCC-CAA c.49_51delinsCAA p.A17Q Missense 2/4 - 1
16-29706021-C-T c.50C>T p.A17V Missense 2/4 - 1
16-29706023-CTG-TTT c.52_54delinsTTT p.L18F Missense 2/4 - 1
16-29706032-AG-CT c.61_62inv p.S21L Missense 2/4 - 1
16-29706038-CT-GC c.67_68delinsGC p.L23A Missense 2/4 - 1
16-29706041-CGA-TGT c.70_72delinsTGT p.R24C Missense 2/4 - 1
16-29706041-C-T c.70C>T p.R24* Nonsense 2/4 - 1
16-29706045-A-G c.74A>G p.E25G Missense 2/4 - 1
16-29706047-G-A c.76G>A p.D26N Missense 2/4 - 1
16-29706047-G-C c.76G>C p.D26H Missense 2/4 - 1
16-29706048-A-G c.77A>G p.D26G Missense 2/4 - 1
16-29706061-C-T c.90C>T p.L30= Synonymous 2/4 - 1
16-29706068-G-A c.97G>A p.A33T Missense 2/4 - 1
16-29706074-TT-GC c.103_104delinsGC p.L35A Missense 2/4 - 1
16-29706084-G-C c.113G>C p.G38A Missense 2/4 - 1
16-29706084-G-T c.113G>T p.G38V Missense 2/4 - 1
16-29706090-G-C c.119G>C p.G40A Missense 2/4 - 1
16-29706092-C-G c.121C>G p.P41A Missense 2/4 - 1
16-29706093-C-A c.122C>A p.P41H Missense 2/4 - 1
16-29706093-C-T c.122C>T p.P41L Missense 2/4 - 1
16-29706094-C-G c.123C>G p.P41= Synonymous 2/4 - 1
16-29706096-C-T c.125C>T p.S42L Missense 2/4 - 1
16-29706097-G-A c.126G>A p.S42= Synonymous 2/4 - 1
16-29706102-C-T c.131C>T p.A44V Missense 2/4 - 3
16-29706105-C-A c.134C>A p.A45E Missense 2/4 - 1
16-29706105-C-T c.134C>T p.A45V Missense 2/4 - 2
16-29706113-G-A c.142G>A p.A48T Missense 2/4 - 1
16-29706113-GC-TA c.142_143delinsTA p.A48Y Missense 2/4 - 1
16-29706113-G-T c.142G>T p.A48S Missense 2/4 - 1
16-29706120-C-T c.149C>T p.S50F Missense 2/4 - 2
16-29706121-C-A c.150C>A p.S50= Synonymous 2/4 - 1
16-29706121-C-G c.150C>G p.S50= Synonymous 2/4 - 1
16-29706121-C-T c.150C>T p.S50= Synonymous 2/4 - 2
16-29706122-C-T c.151C>T p.P51S Missense 2/4 - 1
16-29706123-C-A c.152C>A p.P51H Missense 2/4 - 2
16-29706126-G-T c.155G>T p.G52V Missense 2/4 - 1
16-29706131-C-A c.160C>A p.L54M Missense 2/4 - 1
16-29706131-CT-TC c.160_161delinsTC p.L54S Missense 2/4 - 1
16-29706135-C-G c.164C>G p.A55G Missense 2/4 - 1
16-29706137-G-A c.166G>A p.G56R Missense 2/4 - 1
16-29706137-G-C c.166G>C p.G56R Missense 2/4 - 1
16-29706137-GGG-TGT c.166_168delinsTGT p.G56C Missense 2/4 - 1
16-29706140-C-T c.169C>T p.Q57* Nonsense 2/4 - 1
16-29706143-C-A c.172C>A p.P58T Missense 2/4 - 1
16-29706143-C-T c.172C>T p.P58S Missense 2/4 - 3
16-29706146-T-C c.175T>C p.F59L Missense 2/4 - 1
16-29706148-C-A c.177C>A p.F59L Missense 2/4 - 1
16-29706148-C-G c.177C>G p.F59L Missense 2/4 - 1
16-29706149-T-C c.178T>C p.F60L Missense 2/4 - 1
16-29706151-C-A c.180C>A p.F60L Missense 2/4 - 1
16-29706151-C-G c.180C>G p.F60L Missense 2/4 - 1
16-29706151-C-T c.180C>T p.F60= Synonymous 2/4 - 1
16-29706152-G-T c.181G>T p.D61Y Missense 2/4 - 4
16-29706153-A-C c.182A>C p.D61A Missense 2/4 - 1
16-29706155-GC-AA c.184_185delinsAA p.A62N Missense 2/4 - 1
16-29706156-C-G c.185C>G p.A62G Missense 2/4 - 1
16-29706157-C-A c.186C>A p.A62= Synonymous 2/4 - 1
16-29706157-C-G c.186C>G p.A62= Synonymous 2/4 - 1
16-29706157-C-T c.186C>T p.A62= Synonymous 2/4 - 1
16-29706156-CCATATTTACCCAACTCAA-C c.187_204del p.I63_N68del InFrameDeletion 2/4 - 1
16-29706164-AC-TG c.193_194delinsTG p.T65C Missense 2/4 - 1
16-29706165-CC-TG c.194_195delinsTG p.T65M Missense 2/4 - 1
16-29706165-C-G c.194C>G p.T65S Missense 2/4 - 1
16-29706165-CCCAACTCAACTGCCAAGT-C c.196_213del p.Q66_V71del InFrameDeletion 2/4 - 1
16-29706168-A-G c.197A>G p.Q66R Missense 2/4 - 1
16-29706172-C-G c.201C>G p.L67= Synonymous 2/4 - 1
16-29706176-T-G c.205T>G p.C69G Missense 2/4 - 1
16-29706179-C-T c.208C>T p.Q70* Nonsense 2/4 - 2
16-29706182-G-A c.211G>A p.V71I Missense 2/4 - 1
16-29706182-G-T c.211G>T p.V71F Missense 2/4 - 1
16-29706186-C-G c.215C>G p.S72C Missense 2/4 - 1
16-29706188-T-A c.217T>A p.W73R Missense 2/4 - 1
16-29706188-T-C c.217T>C p.W73R Missense 2/4 - 1
16-29706191-T-G c.220T>G p.F74V Missense 2/4 - 1
16-29706192-T-A c.221T>A p.F74Y Missense 2/4 - 1
16-29706200-G-A c.229G>A p.E77K Missense 2/4 - 3
16-29706202-G-C c.231G>C p.E77D Missense 2/4 - 1
16-29706202-G-T c.231G>T p.E77D Missense 2/4 - 1
16-29706204-G-T c.233G>T p.G78V Missense 2/4 - 1
16-29706212-C-T c.241C>T p.L81= Synonymous 2/4 - 1
16-29706214-G-A c.243G>A p.L81= Synonymous 2/4 - 1
16-29706214-G-C c.243G>C p.L81= Synonymous 2/4 - 1
16-29706214-G-T c.243G>T p.L81= Synonymous 2/4 - 1
16-29706219-C-T c.248C>T p.P83L Missense 2/4 - 1
16-29706221-G-A c.250G>A p.V84M Missense 2/4 - 1
16-29706228-G-A c.257G>A p.R86K Missense 2/4 - 4
16-29706228-G-C c.257G>C p.R86T Missense 2/4 - 1
16-29706235-C-A c.264C>A p.A88= Synonymous 2/4 - 1
16-29706235-C-G c.264C>G p.A88= Synonymous 2/4 - 1
16-29706235-C-T c.264C>T p.A88= Synonymous 2/4 - 2
16-29706239-G-A c.268G>A p.V90I Missense 2/4 - 1
16-29706242-C-T c.271C>T p.R91W Missense 2/4 - 1
16-29706244-G-A c.273G>A p.R91= Synonymous 2/4 - 1
16-29706246-G-T c.275G>T p.G92V Missense 2/4 - 1
16-29706249-C-T c.278C>T p.P93L Missense 2/4 - 1
16-29706251-G-A c.280G>A p.A94T Missense 2/4 - 1
16-29706252-C-T c.281C>T p.A94V Missense 2/4 - 1
16-29706259-C-T c.288C>T p.C96= Synonymous 2/4 - 1
16-29706263-C-A c.292C>A p.L98M Missense 2/4 - 1
16-29706263-C-T c.292C>T p.L98= Synonymous 2/4 - 1
16-29706266-C-T c.295C>T p.L99= Synonymous 2/4 - 1
16-29706268-G-A c.297G>A p.L99= Synonymous 2/4 - 1
16-29706268-G-C c.297G>C p.L99= Synonymous 2/4 - 1
16-29706268-G-T c.297G>T p.L99= Synonymous 2/4 - 1
16-29706270-G-A c.299G>A p.G100E Missense 2/4 - 1
16-29706270-GG-AC c.299_300delinsAC p.G100D Missense 2/4 - 1
16-29706275-CG-GC c.304_305delinsGC p.R102A Missense 2/4 - 1
16-29706275-CG-TA c.304_305delinsTA p.R102* Nonsense 2/4 - 1
16-29706276-G-A c.305G>A p.R102Q Missense 2/4 - 1
16-29706282-C-T c.311C>T p.A104V Missense 2/4 - 1
16-29706290-AC-GG c.319_320delinsGG p.T107G Missense 2/4 - 1
16-29706291-C-G c.320C>G p.T107R Missense 2/4 - 1
16-29706291-C-T c.320C>T p.T107M Missense 2/4 - 1
16-29706292-G-A c.321G>A p.T107= Synonymous 2/4 - 1
16-29706292-G-C c.321G>C p.T107= Synonymous 2/4 - 1
16-29706292-G-T c.321G>T p.T107= Synonymous 2/4 - 1
16-29706293-C-A c.322C>A p.L108M Missense 2/4 - 4
16-29706293-C-G c.322C>G p.L108V Missense 2/4 - 2
16-29706297-C-G c.326C>G p.A109G Missense 2/4 - 1
16-29706299-C-T c.328C>T p.R110C Missense 2/4 - 2
16-29706300-G-A c.329G>A p.R110H Missense 2/4 - 2
16-29706300-G-T c.329G>T p.R110L Missense 2/4 - 2
16-29706305-AG-TA c.334_335delinsTA p.S112Y Missense 2/4 - 1
16-29706315-C-G c.344C>G p.A115G Missense 2/4 - 1
16-29706325-C-G c.354C>G p.A118= Synonymous 2/4 - 1
16-29706326-G-A c.355G>A p.A119T Missense 2/4 - 3
16-29706328-C-A c.357C>A p.A119= Synonymous 2/4 - 2
16-29706328-C-G c.357C>G p.A119= Synonymous 2/4 - 2
16-29706328-C-T c.357C>T p.A119= Synonymous 2/4 - 3
16-29706330-C-T c.359C>T p.A120V Missense 2/4 - 1
16-29706331-T-A c.360T>A p.A120= Synonymous 2/4 - 1
16-29706331-T-C c.360T>C p.A120= Synonymous 2/4 - 1
16-29706331-T-G c.360T>G p.A120= Synonymous 2/4 - 1
16-29706342-C-A c.371C>A p.A124D Missense 2/4 - 1
16-29706347-AG-GA c.376_377delinsGA p.R126E Missense 2/4 - 1
16-29706347-A-C c.376A>C p.R126= Synonymous 2/4 - 1
16-29706349-G-A c.378G>A p.R126= Synonymous 2/4 - 2
16-29706351-G-A c.380G>A p.G127E Missense 2/4 - 4
16-29706351-G-C c.380G>C p.G127A Missense 2/4 - 1
16-29706356-G-A c.385G>A p.G129S Missense 2/4 - 1
16-29706357-G-A c.386G>A p.G129D Missense 2/4 - 1
16-29706371-G-A c.400G>A p.V134M Missense 2/4 - 1
16-29706373-G-T c.402G>T p.V134= Synonymous 2/4 - 1
16-29706379-C-A c.408C>A p.G136= Synonymous 2/4 - 1
16-29706379-C-G c.408C>G p.G136= Synonymous 2/4 - 1
16-29706379-C-T c.408C>T p.G136= Synonymous 2/4 - 1
16-29706383-AG-CA c.412_413delinsCA p.R138Q Missense 2/4 - 1
16-29706386-AA-GC c.415_416delinsGC p.K139A Missense 2/4 - 1
16-29706387-AG-GC c.416_417delinsGC p.K139S Missense 2/4 - 1
16-29706389-A-G c.418A>G p.T140A Missense 2/4 - 1
16-29706393-C-T c.422C>T p.T141M Missense 2/4 - 2
16-29706394-G-A c.423G>A p.T141= Synonymous 2/4 - 1
16-29706399-G-C c.428G>C p.G143A Missense 2/4 - 1
16-29706405-GG-AT c.434_435delinsAT p.R145H Missense 2/4 - 1
16-29706408-T-C c.437T>C p.L146P Missense 2/4 - 1
16-29706413-G-A c.442G>A p.E148K Missense 2/4 - 1
16-29706415-G-C c.444G>C p.E148D Missense 2/4 - 1
16-29706415-G-T c.444G>T p.E148D Missense 2/4 - 1
16-29706418-G-A c.447G>A p.K149= Synonymous 2/4 - 1
16-29706422-G-A c.451G>A p.G151R Missense 2/4 - 1
16-29706423-G-A c.452G>A p.G151E Missense 2/4 - 1
16-29706433-G-A c.462G>A p.V154= Synonymous 2/4 - 1
16-29706435-G-T c.464G>T p.G155V Missense 2/4 - 1
16-29706436-C-T c.465C>T p.G155= Synonymous 2/4 - 1
16-29706437-G-A c.466G>A p.G156R Missense 2/4 - 3
16-29706437-G-C c.466G>C p.G156R Missense 2/4 - 3
16-29706441-C-G c.470C>G p.A157G Missense 2/4 - 1
16-29706442-C-A c.471C>A p.A157= Synonymous 2/4 - 1
16-29706443-G-A c.472G>A p.A158T Missense 2/4 - 1
16-29706443-G-C c.472G>C p.A158P Missense 2/4 - 1
16-29706443-G-T c.472G>T p.A158S Missense 2/4 - 2
16-29706444-C-T c.473C>T p.A158V Missense 2/4 - 19
16-29706445-C-A c.474C>A p.A158= Synonymous 2/4 - 1
16-29706445-C-G c.474C>G p.A158= Synonymous 2/4 - 1
16-29706445-C-T c.474C>T p.A158= Synonymous 2/4 - 1
16-29706446-T-A c.475T>A p.S159T Missense 2/4 - 1
16-29706446-T-G c.475T>G p.S159A Missense 2/4 - 1
16-29706447-C-T c.476C>T p.S159L Missense 2/4 - 2
16-29706449-C-T c.478C>T p.H160Y Missense 2/4 - 1
16-29706450-A-C c.479A>C p.H160P Missense 2/4 - 2
16-29706452-CG-GC c.481_482delinsGC p.R161A Missense 2/4 - 2
16-29706452-C-T c.481C>T p.R161C Missense 2/4 - 1
16-29706453-G-A c.482G>A p.R161H Missense 2/4 - 1
16-29706453-G-C c.482G>C p.R161P Missense 2/4 - 1
16-29706453-GC-AA c.482_483delinsAA p.R161Q Missense 2/4 - 1
16-29706455-T-A c.484T>A p.Y162N Missense 2/4 - 1
16-29706455-T-G c.484T>G p.Y162D Missense 2/4 - 1
16-29706456-A-C c.485A>C p.Y162S Missense 2/4 - 1
16-29706457-C-A c.486C>A p.Y162* Nonsense 2/4 - 1
16-29706458-G-T c.487G>T p.D163Y Missense 2/4 - 1
16-29706462-T-A c.491T>A p.L164Q Missense 2/4 - 1
16-29706462-T-G c.491T>G p.L164R Missense 2/4 - 1
16-29706466-A-G c.495A>G p.G165= Synonymous 2/4 - 1
16-29706468-G-C c.497G>C p.G166A Missense 2/4 - 1
16-29706470-C-T c.499C>T p.L167= Synonymous 2/4 - 1
16-29706472-G-A c.501G>A p.L167= Synonymous 2/4 - 1
16-29706472-G-C c.501G>C p.L167= Synonymous 2/4 - 1
16-29706472-G-T c.501G>T p.L167= Synonymous 2/4 - 1
16-29706474-T-G c.503T>G p.V168G Missense 2/4 - 1
16-29706478-G-A c.507G>A p.M169I Missense 2/4 - 1
16-29706478-G-C c.507G>C p.M169I Missense 2/4 - 1
16-29706478-G-T c.507G>T p.M169I Missense 2/4 - 1
16-29706482-AA-GC c.511_512delinsGC p.K171A Missense 2/4 - 1
16-29706482-A-T c.511A>T p.K171* Nonsense 2/4 - 1
16-29706483-AG-GC c.512_513delinsGC p.K171S Missense 2/4 - 1
16-29706484-G-A c.513G>A p.K171= Synonymous 2/4 - 1
16-29706485-G-A c.514G>A p.D172N Missense 2/4 - 6
16-29706485-G-T c.514G>T p.D172Y Missense 2/4 - 1
16-29706487-T-G c.516T>G p.D172E Missense 2/4 - 1
16-29706490-C-A c.519C>A p.N173K Missense 2/4 - 1
16-29706492-A-C c.521A>C p.H174P Missense 2/4 - 1
16-29706493-T-A c.522T>A p.H174Q Missense 2/4 - 1
16-29706493-T-C c.522T>C p.H174= Synonymous 2/4 - 1
16-29706495-T-G c.524T>G p.V175G Missense 2/4 - 1
16-29706498-T-C c.527T>C p.V176A Missense 2/4 - 1
16-29706503-G-A c.532G>A p.A178T Missense 2/4 - 1
16-29706503-G-C c.532G>C p.A178P Missense 2/4 - 3
16-29706503-G-T c.532G>T p.A178S Missense 2/4 - 1
16-29706506-G-C c.535G>C p.G179R Missense 2/4 - 1
16-29706508-T-G c.537T>G p.G179= Synonymous 2/4 - 1
16-29706513-T-C c.542T>C p.V181A Missense 2/4 - 1
16-29706513-T-G c.542T>G p.V181G Missense 2/4 - 1
16-29706518-A-C c.547A>C p.K183Q Missense 2/4 - 1
16-29706522-T-C c.549+2T>C - IntronicSNV - 2/3 1
16-29708303-C-T c.550-14C>T - IntronicSNV - 2/3 1
16-29708318-C-G c.551C>G p.A184G Missense 3/4 - 1
16-29708319-G-A c.552G>A p.A184= Synonymous 3/4 - 1
16-29708319-G-C c.552G>C p.A184= Synonymous 3/4 - 1
16-29708319-G-T c.552G>T p.A184= Synonymous 3/4 - 1
16-29708321-T-C c.554T>C p.V185A Missense 3/4 - 1
16-29708323-C-T c.556C>T p.R186W Missense 3/4 - 1
16-29708327-C-G c.560C>G p.A187G Missense 3/4 - 1
16-29708330-C-G c.563C>G p.A188G Missense 3/4 - 1
16-29708332-A-G c.565A>G p.R189G Missense 3/4 - 2
16-29708337-G-A c.570G>A p.Q190= Synonymous 3/4 - 1
16-29708339-C-G c.572C>G p.A191G Missense 3/4 - 4
16-29708339-C-T c.572C>T p.A191V Missense 3/4 - 1
16-29708346-C-A c.579C>A p.D193E Missense 3/4 - 1
16-29708346-C-G c.579C>G p.D193E Missense 3/4 - 1
16-29708349-C-T c.582C>T p.F194= Synonymous 3/4 - 7
16-29708350-A-G c.583A>G p.T195A Missense 3/4 - 33
16-29708350-A-T c.583A>T p.T195S Missense 3/4 - 33
16-29708358-G-C c.591G>C p.K197N Missense 3/4 - 1
16-29708358-G-T c.591G>T p.K197N Missense 3/4 - 1
16-29708360-T-G c.593T>G p.V198G Missense 3/4 - 2
16-29708362-G-A c.595G>A p.E199K Missense 3/4 - 2
16-29708377-A-C c.610A>C p.S204R Missense 3/4 - 1
16-29708379-C-A c.612C>A p.S204R Missense 3/4 - 1
16-29708379-C-G c.612C>G p.S204R Missense 3/4 - 1
16-29708380-C-T c.613C>T p.L205= Synonymous 3/4 - 1
16-29708382-G-A c.615G>A p.L205= Synonymous 3/4 - 1
16-29708382-G-C c.615G>C p.L205= Synonymous 3/4 - 2
16-29708391-C-T c.624C>T p.A208= Synonymous 3/4 - 1
16-29708392-G-A c.625G>A p.V209M Missense 3/4 - 3
16-29708397-GGCAGCTGAGGCTGGTGCC-G c.632_649del p.A211_A216del InFrameDeletion 3/4 - 1
16-29708403-T-A c.636T>A p.A212= Synonymous 3/4 - 1
16-29708403-T-C c.636T>C p.A212= Synonymous 3/4 - 1
16-29708403-T-G c.636T>G p.A212= Synonymous 3/4 - 1
16-29708414-C-T c.647C>T p.A216V Missense 3/4 - 1
16-29708416-G-A c.649G>A p.D217N Missense 3/4 - 1
16-29708422-G-A c.655G>A p.V219I Missense 3/4 - 2
16-29708433-C-A c.666C>A p.D222E Missense 3/4 - 1
16-29708444-C-T c.677C>T p.P226L Missense 3/4 - 1
16-29708463-G-A c.681+15G>A - IntronicSNV - 3/3 1
16-29708515-C-T c.682-5C>T - IntronicSNV - 3/3 1
16-29708518-A-AG c.682dup p.E228Gfs*53 SpliceAcceptorInsertion 4/4 - 1
16-29708520-G-A c.682G>A p.E228K Missense 4/4 - 1
16-29708522-AG-A c.684del p.E228Dfs*9 Frameshift 4/4 - 1
16-29708529-C-A c.691C>A p.P231T Missense 4/4 - 1
16-29708530-C-A c.692C>A p.P231H Missense 4/4 - 2
16-29708537-C-A c.699C>A p.A233= Synonymous 4/4 - 1
16-29708537-C-G c.699C>G p.A233= Synonymous 4/4 - 1
16-29708537-C-T c.699C>T p.A233= Synonymous 4/4 - 1
16-29708544-C-A c.706C>A p.L236M Missense 4/4 - 1
16-29708546-G-A c.708G>A p.L236= Synonymous 4/4 - 1
16-29708560-C-T c.722C>T p.P241L Missense 4/4 - 2
16-29708561-G-A c.723G>A p.P241= Synonymous 4/4 - 1
16-29708571-G-A c.733G>A p.V245M Missense 4/4 - 1
16-29708571-G-T c.733G>T p.V245L Missense 4/4 - 1
16-29708574-G-A c.736G>A p.E246K Missense 4/4 - 4
16-29708579-C-A c.741C>A p.A247= Synonymous 4/4 - 1
16-29708579-C-G c.741C>G p.A247= Synonymous 4/4 - 1
16-29708579-C-T c.741C>T p.A247= Synonymous 4/4 - 1
16-29708582-T-C c.744T>C p.S248= Synonymous 4/4 - 1
16-29708585-G-A c.747G>A p.G249= Synonymous 4/4 - 2
16-29708585-G-C c.747G>C p.G249= Synonymous 4/4 - 2
16-29708585-G-T c.747G>T p.G249= Synonymous 4/4 - 2
16-29708587-G-A c.749G>A p.G250D Missense 4/4 - 1
16-29708588-C-T c.750C>T p.G250= Synonymous 4/4 - 1
16-29708594-C-A c.756C>A p.T252= Synonymous 4/4 - 1
16-29708594-C-G c.756C>G p.T252= Synonymous 4/4 - 1
16-29708594-C-T c.756C>T p.T252= Synonymous 4/4 - 1
16-29708602-A-G c.764A>G p.N255S Missense 4/4 - 1
16-29708606-C-T c.768C>T p.L256= Synonymous 4/4 - 1
16-29708610-C-A c.772C>A p.Q258K Missense 4/4 - 1
16-29708610-C-G c.772C>G p.Q258E Missense 4/4 - 1
16-29708616-TG-AC c.778_779delinsAC p.C260T Missense 4/4 - 1
16-29708617-G-A c.779G>A p.C260Y Missense 4/4 - 1
16-29708619-G-T c.781G>T p.G261W Missense 4/4 - 2
16-29708623-C-A c.785C>A p.P262Q Missense 4/4 - 4
16-29708624-G-A c.786G>A p.P262= Synonymous 4/4 - 2
16-29708624-G-C c.786G>C p.P262= Synonymous 4/4 - 1
16-29708631-G-C c.793G>C p.D265H Missense 4/4 - 1
16-29708634-G-A c.796G>A p.V266I Missense 4/4 - 1
16-29708641-C-T c.803C>T p.S268F Missense 4/4 - 3
16-29708647-G-T c.809G>T p.G270V Missense 4/4 - 1
16-29708657-C-T c.819C>T p.T273= Synonymous 4/4 - 2
16-29708658-C-T c.820C>T p.Q274* Nonsense 4/4 - 2
16-29708661-G-A c.823G>A p.A275T Missense 4/4 - 1
16-29708664-G-T c.826G>T p.A276S Missense 4/4 - 1
16-29708666-C-A c.828C>A p.A276= Synonymous 4/4 - 1
16-29708668-C-G c.830C>G p.P277R Missense 4/4 - 1
16-29708668-C-T c.830C>T p.P277L Missense 4/4 - 1
16-29708671-C-A c.833C>A p.A278D Missense 4/4 - 1
16-29708672-C-T c.834C>T p.A278= Synonymous 4/4 - 1
16-29708674-T-C c.836T>C p.L279P Missense 4/4 - 1
16-29708684-C-A c.846C>A p.S282= Synonymous 4/4 - 1
16-29708684-C-G c.846C>G p.S282= Synonymous 4/4 - 1
16-29708684-C-T c.846C>T p.S282= Synonymous 4/4 - 1
16-29708687-C-T c.849C>T p.L283= Synonymous 4/4 - 1
16-29708692-T-C c.854T>C p.L285P Missense 4/4 - 1
16-29708697-G-T c.859G>T p.A287S Missense 4/4 - 1
16-29708698-C-G c.860C>G p.A287G Missense 4/4 - 1
16-29708708-G-A c.870G>A p.V290= Synonymous 4/4 - 1
16-29708708-G-C c.870G>C p.V290= Synonymous 4/4 - 1
16-29708708-G-T c.870G>T p.V290= Synonymous 4/4 - 1
16-29708709-G-A c.871G>A p.A291T Missense 4/4 - 1
16-29708715-G-C c.877G>C p.V293L Missense 4/4 - 1
16-29708715-G-T c.877G>T p.V293L Missense 4/4 - 1
16-29708716-T-C c.878T>C p.V293A Missense 4/4 - 1
16-29708726-C-T c.888C>T p.I296= Synonymous 4/4 - 1