GOT2

GOT2 glutamic-oxaloacetic transaminase 2

Annotation transcript: NM_002080.4

470 unique variant annotations were identified in 369 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
16-58741044-C-G c.*1031G>C - 3-UTRSNV 10/10 - 1
16-58741215-A-T c.*860T>A - 3-UTRSNV 10/10 - 2
16-58741367-A-G c.*708T>C - 3-UTRSNV 10/10 - 6
16-58741850-C-A c.*225G>T - 3-UTRSNV 10/10 - 2
16-58741850-C-T c.*225G>A - 3-UTRSNV 10/10 - 2
16-58741949-T-A c.*126A>T - 3-UTRSNV 10/10 - 4
16-58741949-T-C c.*126A>G - 3-UTRSNV 10/10 - 4
16-58742062-C-G c.*13G>C - 3-UTRSNV 10/10 - 1
16-58742062-C-T c.*13G>A - 3-UTRSNV 10/10 - 1
16-58742081-G-A c.1287C>T p.T429= Synonymous 10/10 - 1
16-58742081-G-C c.1287C>G p.T429= Synonymous 10/10 - 1
16-58742081-G-T c.1287C>A p.T429= Synonymous 10/10 - 1
16-58742082-G-C c.1286C>G p.T429S Missense 10/10 - 1
16-58742083-T-A c.1285A>T p.T429S Missense 10/10 - 1
16-58742085-A-G c.1283T>C p.V428A Missense 10/10 - 2
16-58742085-A-T c.1283T>A p.V428D Missense 10/10 - 1
16-58742086-C-A c.1282G>T p.V428F Missense 10/10 - 1
16-58742085-AC-A c.1282del p.V428Sfs*29 Frameshift 10/10 - 1
16-58742090-G-T c.1278C>A p.H426Q Missense 10/10 - 1
16-58742095-AT-A c.1273del p.I425Ffs*32 Frameshift 10/10 - 1
16-58742097-G-C c.1271C>G p.A424G Missense 10/10 - 1
16-58742098-C-T c.1270G>A p.A424T Missense 10/10 - 1
16-58742103-G-A c.1265C>T p.A422V Missense 10/10 - 1
16-58742103-G-C c.1265C>G p.A422G Missense 10/10 - 1
16-58742109-T-C c.1259A>G p.Y420C Missense 10/10 - 1
16-58742110-A-T c.1258T>A p.Y420N Missense 10/10 - 1
16-58742116-C-T c.1252G>A p.V418M Missense 10/10 - 1
16-58742117-G-C c.1251C>G p.N417K Missense 10/10 - 1
16-58742117-G-T c.1251C>A p.N417K Missense 10/10 - 1
16-58742120-G-A c.1248C>T p.S416= Synonymous 10/10 - 2
16-58742123-G-A c.1245C>T p.S415= Synonymous 10/10 - 1
16-58742123-G-C c.1245C>G p.S415= Synonymous 10/10 - 1
16-58742123-G-T c.1245C>A p.S415= Synonymous 10/10 - 1
16-58742130-A-C c.1238T>G p.V413G Missense 10/10 - 1
16-58742131-C-T c.1237G>A p.V413I Missense 10/10 - 1
16-58742134-C-A c.1234G>T p.G412W Missense 10/10 - 2
16-58742142-G-A c.1226C>T p.S409F Missense 10/10 - 1
16-58742142-GA-CG c.1225_1226delinsCG p.S409R Missense 10/10 - 1
16-58742142-GA-TC c.1225_1226inv p.S409D Missense 10/10 - 1
16-58742147-G-A c.1221C>T p.R407= Synonymous 10/10 - 1
16-58742147-G-C c.1221C>G p.R407= Synonymous 10/10 - 1
16-58742147-G-T c.1221C>A p.R407= Synonymous 10/10 - 1
16-58742148-C-T c.1220G>A p.R407H Missense 10/10 - 2
16-58742151-C-G c.1217G>C p.G406A Missense 10/10 - 1
16-58742155-C-G c.1213G>C p.D405H Missense 10/10 - 3
16-58742156-T-C c.1212A>G p.K404= Synonymous 10/10 - 1
16-58742163-A-G c.1205T>C p.M402T Missense 10/10 - 1
16-58742171-G-A c.1197C>T p.S399= Synonymous 10/10 - 1
16-58742174-G-C c.1194C>G p.F398L Missense 10/10 - 1
16-58742174-G-T c.1194C>A p.F398L Missense 10/10 - 1
16-58742176-A-G c.1192T>C p.F398L Missense 10/10 - 1
16-58742188-G-C c.1180C>G p.L394V Missense 10/10 - 2
16-58742190-C-T c.1178G>A p.R393Q Missense 10/10 - 3
16-58742194-C-G c.1174G>C p.E392Q Missense 10/10 - 1
16-58742194-C-T c.1174G>A p.E392K Missense 10/10 - 1
16-58742195-C-T c.1173G>A p.V391= Synonymous 10/10 - 3
16-58742371-C-T c.1171-174G>A - IntronicSNV - 9/9 1
16-58742480-G-A c.1171-283C>T - IntronicSNV - 9/9 1
16-58743182-AAAAAC-A c.1170+134_1170+138del - IntronicDeletion - 9/9 2
16-58743321-C-A c.1170G>T p.Q390H Missense 9/10 - 2
16-58743321-C-G c.1170G>C p.Q390H Missense 9/10 - 1
16-58743323-G-T c.1168C>A p.Q390K Missense 9/10 - 1
16-58743325-T-C c.1166A>G p.E389G Missense 9/10 - 3
16-58743328-G-A c.1163C>T p.P388L Missense 9/10 - 2
16-58743329-G-A c.1162C>T p.P388S Missense 9/10 - 1
16-58743336-C-A c.1155G>T p.G385= Synonymous 9/10 - 1
16-58743336-C-G c.1155G>C p.G385= Synonymous 9/10 - 1
16-58743336-C-T c.1155G>A p.G385= Synonymous 9/10 - 1
16-58743342-G-A c.1149C>T p.F383= Synonymous 9/10 - 1
16-58743345-A-G c.1146T>C p.C382= Synonymous 9/10 - 1
16-58743360-T-A c.1131A>T p.Q377H Missense 9/10 - 1
16-58743368-T-C c.1123A>G p.T375A Missense 9/10 - 1
16-58743377-G-T c.1114C>A p.Q372K Missense 9/10 - 4
16-58743391-GA-CC c.1099_1100delinsGG p.S367G Missense 9/10 - 1
16-58743393-AC-CT c.1097_1098delinsAG p.G366E Missense 9/10 - 1
16-58743394-C-A c.1097G>T p.G366V Missense 9/10 - 2
16-58743398-C-T c.1093G>A p.E365K Missense 9/10 - 1
16-58743401-T-C c.1090A>G p.K364E Missense 9/10 - 6
16-58743402-C-G c.1089G>C p.K363N Missense 9/10 - 1
16-58743402-C-T c.1089G>A p.K363= Synonymous 9/10 - 1
16-58743403-T-C c.1088A>G p.K363R Missense 9/10 - 1
16-58743404-T-G c.1087A>C p.K363Q Missense 9/10 - 1
16-58743412-G-A c.1079C>T p.S360F Missense 9/10 - 1
16-58743416-C-T c.1075G>A p.V359I Missense 9/10 - 1
16-58743422-G-C c.1069C>G p.Q357E Missense 9/10 - 1
16-58743425-T-C c.1066A>G p.T356A Missense 9/10 - 2
16-58743427-C-T c.1064G>A p.R355Q Missense 9/10 - 1
16-58743428-G-A c.1063C>T p.R355W Missense 9/10 - 6
16-58743428-G-C c.1063C>G p.R355G Missense 9/10 - 3
16-58743429-C-A c.1062G>T p.M354I Missense 9/10 - 1
16-58743433-C-T c.1058G>A p.G353D Missense 9/10 - 2
16-58743437-T-C c.1054A>G p.I352V Missense 9/10 - 1
16-58743441-GC-TT c.1049_1050delinsAA p.R350Q Missense 9/10 - 1
16-58743442-C-G c.1049G>C p.R350P Missense 9/10 - 1
16-58743442-C-T c.1049G>A p.R350H Missense 9/10 - 1
16-58743443-G-A c.1048C>T p.R350C Missense 9/10 - 1
16-58743445-T-G c.1046A>C p.D349A Missense 9/10 - 1
16-58743446-C-A c.1045G>T p.D349Y Missense 9/10 - 1
16-58743452-T-C c.1039A>G p.M347V Missense 9/10 - 1
16-58743453-G-A c.1038C>T p.V346= Synonymous 9/10 - 2
16-58743453-G-C c.1038C>G p.V346= Synonymous 9/10 - 2
16-58743453-G-T c.1038C>A p.V346= Synonymous 9/10 - 2
16-58743454-A-C c.1037T>G p.V346G Missense 9/10 - 44
16-58743460-A-G c.1031T>C p.V344A Missense 9/10 - 1
16-58743461-C-T c.1030G>A p.V344M Missense 9/10 - 1
16-58743723-C-T c.1020-252G>A - IntronicSNV - 8/9 1
16-58745846-T-C c.1020-2375A>G - IntronicSNV - 8/9 1
16-58745990-A-G c.1020-2519T>C - IntronicSNV - 8/9 1
16-58747087-GA-G c.1019+2830del - IntronicDeletion - 8/9 1
16-58747659-A-G c.1019+2259T>C - IntronicSNV - 8/9 1
16-58749926-TCG-ACA c.1009_1011delinsTGT p.R337C Missense 8/10 - 1
16-58749927-C-T c.1010G>A p.R337Q Missense 8/10 - 1
16-58749928-G-A c.1009C>T p.R337* Nonsense 8/10 - 2
16-58749928-G-C c.1009C>G p.R337G Missense 8/10 - 4
16-58749929-CA-C c.1007del p.L336Cfs*9 Frameshift 8/10 - 2
16-58749934-C-A c.1003G>T p.D335Y Missense 8/10 - 1
16-58749934-C-G c.1003G>C p.D335H Missense 8/10 - 1
16-58749934-C-T c.1003G>A p.D335N Missense 8/10 - 1
16-58749951-G-A c.986C>T p.A329V Missense 8/10 - 3
16-58749952-C-A c.985G>T p.A329S Missense 8/10 - 1
16-58749963-C-T c.974G>A p.R325Q Missense 8/10 - 1
16-58749965-G-C c.972C>G p.A324= Synonymous 8/10 - 1
16-58749966-G-A c.971C>T p.A324V Missense 8/10 - 4
16-58749970-C-T c.967G>A p.G323R Missense 8/10 - 2
16-58749972-T-C c.965A>G p.N322S Missense 8/10 - 2
16-58749977-G-A c.960C>T p.P320= Synonymous 8/10 - 1
16-58749977-G-C c.960C>G p.P320= Synonymous 8/10 - 1
16-58749977-G-T c.960C>A p.P320= Synonymous 8/10 - 1
16-58749978-G-A c.959C>T p.P320L Missense 8/10 - 5
16-58749987-GA-AG c.949_950delinsCT p.S317L Missense 8/10 - 1
16-58749989-A-G c.948T>C p.Y316= Synonymous 8/10 - 2
16-58749990-T-C c.947A>G p.Y316C Missense 8/10 - 1
16-58749996-G-A c.941C>T p.P314L Missense 8/10 - 10
16-58749997-G-A c.940C>T p.P314S Missense 8/10 - 1
16-58749998-A-C c.939T>G p.R313= Synonymous 8/10 - 1
16-58750002-A-G c.935T>C p.I312T Missense 8/10 - 1
16-58750008-A-T c.929T>A p.I310N Missense 8/10 - 1
16-58750010-C-T c.927G>A p.K309= Synonymous 8/10 - 1
16-58750017-T-C c.920A>G p.Q307R Missense 8/10 - 1
16-58750026-A-C c.911T>G p.V304G Missense 8/10 - 1
16-58750029-CT-GC c.907_908delinsGC p.R303A Missense 8/10 - 1
16-58750031-T-C c.906A>G p.K302= Synonymous 8/10 - 1
16-58750034-G-A c.903C>T p.A301= Synonymous 8/10 - 1
16-58750037-T-G c.900A>C p.E300D Missense 8/10 - 1
16-58750043-C-A c.894G>T p.A298= Synonymous 8/10 - 1
16-58750043-C-G c.894G>C p.A298= Synonymous 8/10 - 1
16-58750043-C-T c.894G>A p.A298= Synonymous 8/10 - 2
16-58750048-C-T c.889G>A p.D297N Missense 8/10 - 2
16-58750049-T-C c.888A>G p.K296= Synonymous 8/10 - 1
16-58750050-TT-GC c.886_887delinsGC p.K296A Missense 8/10 - 1
16-58750052-GCA-CTC c.883_885delinsGAG p.C295E Missense 8/10 - 1
16-58750057-C-G c.880G>C p.V294L Missense 8/10 - 1
16-58750059-CA-C c.878del p.M293Rfs*12 Frameshift 8/10 - 1
16-58750064-G-A c.873C>T p.F291= Synonymous 8/10 - 1
16-58750067-G-A c.870C>T p.A290= Synonymous 8/10 - 1
16-58750072-C-A c.865G>T p.G289* Nonsense 8/10 - 1
16-58750073-TAC-CAT c.862_864delinsATG p.V288M Missense 8/10 - 1
16-58750077-C-A c.860G>T p.R287L Missense 8/10 - 3
16-58750078-G-A c.859C>T p.R287C Missense 8/10 - 1
16-58750158-T-C c.854-75A>G - IntronicSNV - 7/9 2
16-58750487-ACAC-A c.853+78_853+80del - IntronicDeletion - 7/9 1
16-58750494-C-A c.853+73G>T - IntronicSNV - 7/9 1
16-58750566-C-T c.853+1G>A - IntronicSNV - 7/9 1
16-58750568-A-G c.852T>C p.Y284= Synonymous 7/10 - 1
16-58750569-T-C c.851A>G p.Y284C Missense 7/10 - 1
16-58750572-A-G c.848T>C p.L283S Missense 7/10 - 5
16-58750585-T-C c.835A>G p.K279E Missense 7/10 - 3
16-58750588-C-A c.832G>T p.A278S Missense 7/10 - 2
16-58750601-G-T c.819C>A p.L273= Synonymous 7/10 - 1
16-58750604-G-A c.816C>T p.C272= Synonymous 7/10 - 23
16-58750621-G-A c.799C>T p.Q267* Nonsense 7/10 - 1
16-58750624-C-G c.796G>C p.E266Q Missense 7/10 - 1
16-58750624-C-T c.796G>A p.E266K Missense 7/10 - 1
16-58750625-G-A c.795C>T p.I265= Synonymous 7/10 - 2
16-58750635-CG-GC c.784_785delinsGC p.R262A Missense 7/10 - 1
16-58750636-G-A c.784C>T p.R262C Missense 7/10 - 3
16-58750636-G-C c.784C>G p.R262G Missense 7/10 - 3
16-58750638-A-C c.782T>G p.V261G Missense 7/10 - 1
16-58750647-G-A c.773C>T p.A258V Missense 7/10 - 1
16-58750677-C-A c.743G>T p.G248V Missense 7/10 - 1
16-58750677-C-G c.743G>C p.G248A Missense 7/10 - 1
16-58750677-C-T c.743G>A p.G248D Missense 7/10 - 1
16-58750678-C-T c.742G>A p.G248S Missense 7/10 - 1
16-58750687-C-T c.733G>A p.A245T Missense 7/10 - 1
16-58750695-A-G c.725T>C p.F242S Missense 7/10 - 1
16-58750700-C-A c.720G>T p.A240= Synonymous 7/10 - 2
16-58750700-C-G c.720G>C p.A240= Synonymous 7/10 - 2
16-58750700-C-T c.720G>A p.A240= Synonymous 7/10 - 3
16-58750701-G-A c.719C>T p.A240V Missense 7/10 - 3
16-58750702-C-A c.718G>T p.A240S Missense 7/10 - 3
16-58750708-G-T c.712C>A p.L238I Missense 7/10 - 1
16-58750716-T-C c.704A>G p.K235R Missense 7/10 - 1
16-58750843-G-A c.703-126C>T - IntronicSNV - 6/9 2
16-58750869-A-T c.703-152T>A - IntronicSNV - 6/9 3
16-58751881-G-A c.702+219C>T - IntronicSNV - 6/9 1
16-58752101-T-C c.701A>G p.K234R Missense 6/10 - 1
16-58752101-TT-GC c.700_701delinsGC p.K234A Missense 6/10 - 1
16-58752104-A-G c.698T>C p.V233A Missense 6/10 - 1
16-58752119-T-C c.683A>G p.E228G Missense 6/10 - 1
16-58752121-C-T c.681G>A p.K227= Synonymous 6/10 - 1
16-58752123-T-G c.679A>C p.K227Q Missense 6/10 - 1
16-58752132-C-T c.670G>A p.E224K Missense 6/10 - 2
16-58752134-G-A c.668C>T p.P223L Missense 6/10 - 2
16-58752137-C-A c.665G>T p.R222L Missense 6/10 - 1
16-58752137-C-T c.665G>A p.R222H Missense 6/10 - 7
16-58752138-G-A c.664C>T p.R222C Missense 6/10 - 1
16-58752139-C-A c.663G>T p.P221= Synonymous 6/10 - 1
16-58752139-C-G c.663G>C p.P221= Synonymous 6/10 - 1
16-58752139-C-T c.663G>A p.P221= Synonymous 6/10 - 1
16-58752140-G-A c.662C>T p.P221L Missense 6/10 - 1
16-58752140-G-C c.662C>G p.P221R Missense 6/10 - 1
16-58752141-G-A c.661C>T p.P221S Missense 6/10 - 2
16-58752151-C-T c.651G>A p.T217= Synonymous 6/10 - 1
16-58752161-T-A c.641A>T p.H214L Missense 6/10 - 2
16-58752166-G-A c.636C>T p.C212= Synonymous 6/10 - 1
16-58752172-A-T c.630T>A p.H210Q Missense 6/10 - 1
16-58752173-T-C c.629A>G p.H210R Missense 6/10 - 5
16-58752174-G-A c.628C>T p.H210Y Missense 6/10 - 3
16-58752174-G-T c.628C>A p.H210N Missense 6/10 - 1
16-58752173-TGCA-T c.626_628del p.L209del InFrameDeletion 6/10 - 1
16-58752180-G-A c.622C>T p.L208F Missense 6/10 - 1
16-58752175-CAGA-C c.624_626del p.L209del InFrameDeletion 6/10 - 3
16-58752189-T-A c.613A>T p.S205C Missense 6/10 - 1
16-58752190-C-A c.612G>T p.Q204H Missense 6/10 - 1
16-58752190-C-G c.612G>C p.Q204H Missense 6/10 - 1
16-58752190-C-T c.612G>A p.Q204= Synonymous 6/10 - 1
16-58752192-G-T c.610C>A p.Q204K Missense 6/10 - 1
16-58752199-T-C c.603A>G p.I201M Missense 6/10 - 1
16-58752382-G-A c.597+49C>T - IntronicSNV - 5/9 1
16-58752382-G-T c.597+49C>A - IntronicSNV - 5/9 1
16-58752438-T-C c.590A>G p.D197G Missense 5/10 - 1
16-58752439-C-T c.589G>A p.D197N Missense 5/10 - 12
16-58752440-C-T c.588G>A p.E196= Synonymous 5/10 - 1
16-58752443-C-T c.585G>A p.V195= Synonymous 5/10 - 1
16-58752445-C-A c.583G>T p.V195L Missense 5/10 - 1
16-58752445-C-G c.583G>C p.V195L Missense 5/10 - 1
16-58752451-C-G c.577G>C p.G193R Missense 5/10 - 1
16-58752460-C-T c.568G>A p.D190N Missense 5/10 - 1
16-58752464-A-C c.564T>G p.G188= Synonymous 5/10 - 1
16-58752464-A-G c.564T>C p.G188= Synonymous 5/10 - 1
16-58752464-A-T c.564T>A p.G188= Synonymous 5/10 - 1
16-58752465-C-G c.563G>C p.G188A Missense 5/10 - 1
16-58752466-C-T c.562G>A p.G188S Missense 5/10 - 34
16-58752467-G-A c.561C>T p.C187= Synonymous 5/10 - 1
16-58752467-GCA-CTC c.559_561delinsGAG p.C187E Missense 5/10 - 1
16-58752477-G-A c.551C>T p.P184L Missense 5/10 - 2
16-58752479-G-A c.549C>T p.D183= Synonymous 5/10 - 2
16-58752485-A-G c.543T>C p.Y181= Synonymous 5/10 - 1
16-58752486-T-G c.542A>C p.Y181S Missense 5/10 - 1
16-58752489-C-T c.539G>A p.R180Q Missense 5/10 - 1
16-58752498-T-C c.530A>G p.Q177R Missense 5/10 - 5
16-58752503-C-A c.525G>T p.Q175H Missense 5/10 - 1
16-58752503-C-G c.525G>C p.Q175H Missense 5/10 - 1
16-58752509-G-A c.519C>T p.G173= Synonymous 5/10 - 1
16-58752514-C-T c.514G>A p.A172T Missense 5/10 - 1
16-58752526-T-C c.502A>G p.I168V Missense 5/10 - 1
16-58752530-T-C c.498A>G p.T166= Synonymous 5/10 - 1
16-58752530-TGT-ACA c.496_498inv p.T166C Missense 5/10 - 1
16-58752532-T-C c.496A>G p.T166A Missense 5/10 - 1
16-58752536-G-A c.492C>T p.N164= Synonymous 5/10 - 1
16-58752538-T-G c.490A>C p.N164H Missense 5/10 - 1
16-58752546-G-A c.482C>T p.T161I Missense 5/10 - 1
16-58752547-T-A c.481A>T p.T161S Missense 5/10 - 1
16-58752549-G-T c.479C>A p.P160Q Missense 5/10 - 1
16-58752556-G-A c.472C>T p.P158S Missense 5/10 - 2
16-58752559-G-A c.469C>T p.L157= Synonymous 5/10 - 1
16-58752559-G-C c.469C>G p.L157V Missense 5/10 - 1
16-58752568-C-T c.460G>A p.D154N Missense 5/10 - 5
16-58752580-T-C c.448A>G p.K150E Missense 5/10 - 1
16-58752582-A-G c.446T>C p.F149S Missense 5/10 - 1
16-58752583-A-C c.445T>G p.F149V Missense 5/10 - 3
16-58752580-TA-T c.447del p.F149Lfs*81 Frameshift 5/10 - 1
16-58752587-T-C c.441A>G p.R147= Synonymous 5/10 - 1
16-58752588-C-T c.440G>A p.R147K Missense 5/10 - 1
16-58752591-T-C c.437A>G p.Q146R Missense 5/10 - 1
16-58752592-G-T c.436C>A p.Q146K Missense 5/10 - 1
16-58753050-C-T c.435+50G>A - IntronicSNV - 4/9 1
16-58753097-C-T c.435+3G>A - IntronicSNV - 4/9 1
16-58753104-A-C c.431T>G p.F144C Missense 4/10 - 1
16-58753112-TCC-CCA c.421_423delinsTGG p.G141W Missense 4/10 - 1
16-58753112-TCC-GCT c.421_423delinsAGC p.G141S Missense 4/10 - 1
16-58753113-C-G c.422G>C p.G141A Missense 4/10 - 1
16-58753114-C-G c.421G>C p.G141R Missense 4/10 - 1
16-58753114-C-T c.421G>A p.G141R Missense 4/10 - 1
16-58753126-C-T c.409G>A p.A137T Missense 4/10 - 1
16-58753129-C-T c.406G>A p.G136R Missense 4/10 - 4
16-58753135-C-A c.400G>T p.G134* Nonsense 4/10 - 4
16-58753142-G-A c.393C>T p.T131= Synonymous 4/10 - 1
16-58753145-C-A c.390G>T p.Q130H Missense 4/10 - 1
16-58753147-G-T c.388C>A p.Q130K Missense 4/10 - 1
16-58753152-G-A c.383C>T p.T128I Missense 4/10 - 1
16-58753305-C-G c.376-146G>C - IntronicSNV - 3/9 1
16-58753761-G-A c.376-602C>T - IntronicSNV - 3/9 1
16-58753761-G-T c.376-602C>A - IntronicSNV - 3/9 1
16-58753995-C-T c.376-836G>A - IntronicSNV - 3/9 1
16-58756056-G-A c.373C>T p.R125W Missense 3/10 - 1
16-58756059-C-G c.370G>C p.G124R Missense 3/10 - 1
16-58756061-C-T c.368G>A p.S123N Missense 3/10 - 1
16-58756063-C-T c.366G>A p.K122= Synonymous 3/10 - 1
16-58756066-C-T c.363G>A p.L121= Synonymous 3/10 - 1
16-58756068-A-G c.361T>C p.L121= Synonymous 3/10 - 1
16-58756072-T-A c.357A>T p.E119D Missense 3/10 - 1
16-58756074-C-G c.355G>C p.E119Q Missense 3/10 - 1
16-58756075-GC-AT c.353_354delinsAT p.S118N Missense 3/10 - 1
16-58756083-C-T c.346G>A p.E116K Missense 3/10 - 1
16-58756087-C-A c.342G>T p.L114= Synonymous 3/10 - 1
16-58756087-C-G c.342G>C p.L114= Synonymous 3/10 - 1
16-58756087-C-T c.342G>A p.L114= Synonymous 3/10 - 1
16-58756089-G-A c.340C>T p.L114= Synonymous 3/10 - 1
16-58756091-G-A c.338C>T p.A113V Missense 3/10 - 3
16-58756092-C-A c.337G>T p.A113S Missense 3/10 - 1
16-58756092-C-T c.337G>A p.A113T Missense 3/10 - 1
16-58756093-T-A c.336A>T p.L112= Synonymous 3/10 - 1
16-58756093-T-C c.336A>G p.L112= Synonymous 3/10 - 1
16-58756093-T-G c.336A>C p.L112= Synonymous 3/10 - 1
16-58756095-G-A c.334C>T p.L112= Synonymous 3/10 - 1
16-58756103-GA-CG c.325_326delinsCG p.S109R Missense 3/10 - 1
16-58756111-G-A c.318C>T p.C106= Synonymous 3/10 - 1
16-58756111-GCA-CTC c.316_318delinsGAG p.C106E Missense 3/10 - 1
16-58756119-C-T c.310G>A p.E104K Missense 3/10 - 1
16-58756123-C-A c.306G>T p.L102= Synonymous 3/10 - 1
16-58756123-C-G c.306G>C p.L102= Synonymous 3/10 - 1
16-58756123-C-T c.306G>A p.L102= Synonymous 3/10 - 1
16-58756125-G-A c.304C>T p.L102= Synonymous 3/10 - 1
16-58756127-C-A c.302G>T p.G101V Missense 3/10 - 1
16-58756127-C-T c.302G>A p.G101E Missense 3/10 - 2
16-58756128-C-T c.301G>A p.G101R Missense 3/10 - 1
16-58756131-C-A c.298G>T p.G100W Missense 3/10 - 1
16-58756133-A-G c.296T>C p.I99T Missense 3/10 - 1
16-58756146-C-A c.283G>T p.E95* Nonsense 3/10 - 2
16-58756148-T-C c.281A>G p.K94R Missense 3/10 - 3
16-58756148-T-G c.281A>C p.K94T Missense 3/10 - 1
16-58756150-G-C c.279C>G p.D93E Missense 3/10 - 1
16-58756150-G-T c.279C>A p.D93E Missense 3/10 - 1
16-58756151-T-G c.278A>C p.D93A Missense 3/10 - 1
16-58756156-A-C c.273T>G p.N91K Missense 3/10 - 3
16-58756156-A-T c.273T>A p.N91K Missense 3/10 - 6
16-58756158-T-C c.271A>G p.N91D Missense 3/10 - 3
16-58756159-T-C c.270A>G p.K90= Synonymous 3/10 - 1
16-58756156-A-AT c.272dup p.N91Kfs*14 Frameshift 3/10 - 1
16-58756164-C-A c.265G>T p.A89S Missense 3/10 - 4
16-58756164-C-T c.265G>A p.A89T Missense 3/10 - 3
16-58756166-G-A c.263C>T p.A88V Missense 3/10 - 2
16-58756171-CTG-ATA c.256_258delinsTAT p.Q86Y Missense 3/10 - 1
16-58756179-C-T c.250G>A p.E84K Missense 3/10 - 1
16-58756181-G-T c.248C>A p.A83E Missense 3/10 - 1
16-58756343-C-T c.247-161G>A - IntronicSNV - 2/9 1
16-58757319-A-C c.246+331T>G - IntronicSNV - 2/9 1
16-58757331-G-A c.246+319C>T - IntronicSNV - 2/9 1
16-58757398-G-A c.246+252C>T - IntronicSNV - 2/9 1
16-58757564-T-C c.246+86A>G - IntronicSNV - 2/9 1
16-58757568-G-A c.246+82C>T - IntronicSNV - 2/9 1
16-58757618-C-A c.246+32G>T - IntronicSNV - 2/9 3
16-58757655-G-A c.241C>T p.R81C Missense 2/10 - 2
16-58757658-C-T c.238G>A p.V80I Missense 2/10 - 2
16-58757663-G-T c.233C>A p.P78H Missense 2/10 - 1
16-58757668-A-C c.228T>G p.V76= Synonymous 2/10 - 23
16-58757668-A-G c.228T>C p.V76= Synonymous 2/10 - 21
16-58757668-A-T c.228T>A p.V76= Synonymous 2/10 - 1
16-58757670-C-T c.226G>A p.V76I Missense 2/10 - 3
16-58757671-G-A c.225C>T p.Y75= Synonymous 2/10 - 1
16-58757681-C-T c.215G>A p.G72E Missense 2/10 - 1
16-58757682-C-T c.214G>A p.G72R Missense 2/10 - 1
16-58757683-A-C c.213T>G p.N71K Missense 2/10 - 1
16-58757683-A-G c.213T>C p.N71= Synonymous 2/10 - 23
16-58757683-A-T c.213T>A p.N71K Missense 2/10 - 1
16-58757688-C-T c.208G>A p.D70N Missense 2/10 - 1
16-58757693-C-T c.203G>A p.R68Q Missense 2/10 - 2
16-58757706-C-T c.190G>A p.V64I Missense 2/10 - 1
16-58757708-C-G c.188G>C p.G63A Missense 2/10 - 1
16-58757708-C-T c.188G>A p.G63E Missense 2/10 - 1
16-58757714-T-C c.182A>G p.N61S Missense 2/10 - 9
16-58757718-T-C c.178A>G p.M60V Missense 2/10 - 1
16-58757719-C-A c.177G>T p.K59N Missense 2/10 - 3
16-58757719-C-G c.177G>C p.K59N Missense 2/10 - 4
16-58757719-C-T c.177G>A p.K59= Synonymous 2/10 - 1
16-58757728-A-C c.168T>G p.N56K Missense 2/10 - 1
16-58757728-A-T c.168T>A p.N56K Missense 2/10 - 1
16-58757732-G-T c.164C>A p.T55N Missense 2/10 - 1
16-58757734-G-A c.162C>T p.D54= Synonymous 2/10 - 1
16-58757736-C-T c.160G>A p.D54N Missense 2/10 - 1
16-58757738-C-A c.158G>T p.R53M Missense 2/10 - 4
16-58757739-T-A c.157A>T p.R53W Missense 2/10 - 2
16-58757742-T-C c.154A>G p.K52E Missense 2/10 - 1
16-58757747-G-C c.149C>G p.A50G Missense 2/10 - 1
16-58757750-T-C c.146A>G p.E49G Missense 2/10 - 1
16-58757756-A-G c.140T>C p.V47A Missense 2/10 - 1
16-58757758-TC-GT c.137_138delinsAC p.G46D Missense 2/10 - 1
16-58757759-C-G c.137G>C p.G46A Missense 2/10 - 1
16-58757768-G-A c.128C>T p.P43L Missense 2/10 - 4
16-58757769-G-A c.127C>T p.P43S Missense 2/10 - 3
16-58757769-G-T c.127C>A p.P43T Missense 2/10 - 1
16-58757772-C-T c.124G>A p.D42N Missense 2/10 - 1
16-58757773-TG-AT c.122_123delinsAT p.P41H Missense 2/10 - 1
16-58757777-G-T c.119C>A p.P40H Missense 2/10 - 1
16-58757778-G-A c.118C>T p.P40S Missense 2/10 - 2
16-58757779-T-A c.117A>T p.G39= Synonymous 2/10 - 1
16-58757779-T-C c.117A>G p.G39= Synonymous 2/10 - 1
16-58757779-T-G c.117A>C p.G39= Synonymous 2/10 - 1
16-58757780-C-CT c.115_116insA p.G39Efs*11 Frameshift 2/10 - 1
16-58757785-T-A c.111A>T p.E37D Missense 2/10 - 1
16-58757785-T-G c.111A>C p.E37D Missense 2/10 - 1
16-58757787-C-G c.109G>C p.E37Q Missense 2/10 - 1
16-58757792-T-C c.104A>G p.H35R Missense 2/10 - 2
16-58757793-G-T c.103C>A p.H35N Missense 2/10 - 1
16-58757795-G-A c.101C>T p.T34I Missense 2/10 - 1
16-58757797-C-T c.99G>A p.W33* Nonsense 2/10 - 1
16-58757805-A-G c.91T>C p.S31P Missense 2/10 - 2
16-58757880-T-C c.90-74A>G - IntronicSNV - 1/9 1
16-58757977-C-A c.90-171G>T - IntronicSNV - 1/9 1
16-58759332-C-G c.90-1526G>C - IntronicSNV - 1/9 1
16-58764855-C-A c.89+3189G>T - IntronicSNV - 1/9 2
16-58765668-T-C c.89+2376A>G - IntronicSNV - 1/9 1
16-58766287-A-C c.89+1757T>G - IntronicSNV - 1/9 1
16-58767730-C-T c.89+314G>A - IntronicSNV - 1/9 1
16-58767848-G-A c.89+196C>T - IntronicSNV - 1/9 1
16-58767916-AGT-A c.89+126_89+127del - IntronicDeletion - 1/9 2
16-58768039-C-T c.89+5G>A - IntronicSNV - 1/9 1
16-58768044-C-G c.89G>C p.S30T Missense 1/10 - 1
16-58768046-GGC-CAT c.85_87delinsATG p.A29M Missense 1/10 - 3
16-58768046-GG-CT c.86_87delinsAG p.A29E Missense 1/10 - 2
16-58768046-GGC-TTG c.85_87delinsCAA p.A29Q Missense 1/10 - 2
16-58768047-GC-AG c.85_86delinsCT p.A29L Missense 1/10 - 2
16-58768047-GC-AT c.85_86delinsAT p.A29I Missense 1/10 - 1
16-58768047-GC-CA c.85_86delinsTG p.A29C Missense 1/10 - 2
16-58768047-G-T c.86C>A p.A29D Missense 1/10 - 2
16-58768048-C-A c.85G>T p.A29S Missense 1/10 - 2
16-58768048-C-T c.85G>A p.A29T Missense 1/10 - 2
16-58768058-G-A c.75C>T p.A25= Synonymous 1/10 - 1
16-58768058-G-C c.75C>G p.A25= Synonymous 1/10 - 1
16-58768058-G-T c.75C>A p.A25= Synonymous 1/10 - 1
16-58768059-G-T c.74C>A p.A25D Missense 1/10 - 1
16-58768060-C-T c.73G>A p.A25T Missense 1/10 - 1
16-58768062-G-T c.71C>A p.A24E Missense 1/10 - 1
16-58768064-G-A c.69C>T p.A23= Synonymous 1/10 - 1
16-58768064-GGC-CAT c.67_69delinsATG p.A23M Missense 1/10 - 1
16-58768068-G-T c.65C>A p.A22D Missense 1/10 - 1
16-58768069-C-G c.64G>C p.A22P Missense 1/10 - 1
16-58768070-G-A c.63C>T p.L21= Synonymous 1/10 - 2
16-58768070-G-C c.63C>G p.L21= Synonymous 1/10 - 1
16-58768070-G-T c.63C>A p.L21= Synonymous 1/10 - 1
16-58768073-GCC-CCA c.58_60delinsTGG p.G20W Missense 1/10 - 1
16-58768085-G-A c.48C>T p.A16= Synonymous 1/10 - 1
16-58768085-G-C c.48C>G p.A16= Synonymous 1/10 - 1
16-58768085-GGC-TTA c.46_48delinsTAA p.A16* Nonsense 1/10 - 1
16-58768085-G-T c.48C>A p.A16= Synonymous 1/10 - 1
16-58768088-G-A c.45C>T p.A15= Synonymous 1/10 - 1
16-58768088-G-C c.45C>G p.A15= Synonymous 1/10 - 1
16-58768088-GGC-TTA c.43_45delinsTAA p.A15* Nonsense 1/10 - 1
16-58768088-G-T c.45C>A p.A15= Synonymous 1/10 - 1
16-58768089-G-A c.44C>T p.A15V Missense 1/10 - 1
16-58768089-GC-AG c.43_44delinsCT p.A15L Missense 1/10 - 1
16-58768089-GC-CG c.43_44delinsCG p.A15R Missense 1/10 - 1
16-58768089-GC-TG c.43_44delinsCA p.A15H Missense 1/10 - 1
16-58768091-GGC-TTG c.40_42delinsCAA p.A14Q Missense 1/10 - 1
16-58768095-A-C c.38T>G p.I13S Missense 1/10 - 1
16-58768097-CC-GT c.35_36delinsAC p.G12D Missense 1/10 - 8
16-58768097-C-T c.36G>A p.G12= Synonymous 1/10 - 1
16-58768098-C-A c.35G>T p.G12V Missense 1/10 - 1
16-58768098-C-T c.35G>A p.G12E Missense 1/10 - 4
16-58768099-C-T c.34G>A p.G12R Missense 1/10 - 1
16-58768104-AG-GC c.28_29delinsGC p.L10A Missense 1/10 - 2
16-58768105-G-T c.28C>A p.L10I Missense 1/10 - 1
16-58768113-C-A c.20G>T p.G7V Missense 1/10 - 1
16-58768115-G-A c.18C>T p.S6= Synonymous 1/10 - 1
16-58768115-G-C c.18C>G p.S6= Synonymous 1/10 - 1
16-58768115-G-T c.18C>A p.S6= Synonymous 1/10 - 1
16-58768129-C-A c.4G>T p.A2S Missense 1/10 - 11
16-58768173-C-G c.-41G>C - 5-UTRSNV 1/10 - 2
16-58768191-A-G c.-59T>C - 5-UTRSNV 1/10 - 1