FOXD4

FOXD4 forkhead box D4

Annotation transcript: NM_207305.5

521 unique variant annotations were identified in 265 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
9-116318-A-G c.*482T>C - 3-UTRSNV 1/1 - 1
9-116429-C-T c.*371G>A - 3-UTRSNV 1/1 - 2
9-116557-C-A c.*243G>T - 3-UTRSNV 1/1 - 4
9-116800-C-G c.1320G>C p.*440Yext*55 Missense 1/1 - 9
9-116800-C-T c.1320G>A p.*440= Synonymous 1/1 - 9
9-116804-G-C c.1316C>G p.S439C Missense 1/1 - 1
9-116804-G-T c.1316C>A p.S439Y Missense 1/1 - 1
9-116807-G-A c.1313C>T p.P438L Missense 1/1 - 1
9-116807-G-C c.1313C>G p.P438R Missense 1/1 - 1
9-116808-G-A c.1312C>T p.P438S Missense 1/1 - 6
9-116811-C-A c.1309G>T p.G437W Missense 1/1 - 1
9-116811-C-T c.1309G>A p.G437R Missense 1/1 - 1
9-116814-C-A c.1306G>T p.A436S Missense 1/1 - 1
9-116814-C-T c.1306G>A p.A436T Missense 1/1 - 1
9-116815-G-A c.1305C>T p.S435= Synonymous 1/1 - 1
9-116815-G-T c.1305C>A p.S435= Synonymous 1/1 - 1
9-116816-G-A c.1304C>T p.S435F Missense 1/1 - 1
9-116828-G-A c.1292C>T p.S431F Missense 1/1 - 3
9-116830-A-G c.1290T>C p.S430= Synonymous 1/1 - 1
9-116832-T-C c.1288A>G p.S430G Missense 1/1 - 13
9-116835-G-A c.1285C>T p.P429S Missense 1/1 - 1
9-116837-G-A c.1283C>T p.T428M Missense 1/1 - 2
9-116837-G-C c.1283C>G p.T428R Missense 1/1 - 1
9-116837-G-T c.1283C>A p.T428K Missense 1/1 - 1
9-116840-G-A c.1280C>T p.P427L Missense 1/1 - 1
9-116841-G-A c.1279C>T p.P427S Missense 1/1 - 1
9-116841-G-C c.1279C>G p.P427A Missense 1/1 - 1
9-116842-C-T c.1278G>A p.S426= Synonymous 1/1 - 3
9-116843-G-A c.1277C>T p.S426L Missense 1/1 - 1
9-116848-T-A c.1272A>T p.L424F Missense 1/1 - 1
9-116848-T-G c.1272A>C p.L424F Missense 1/1 - 1
9-116848-TA-T c.1271del p.L424* Frameshift 1/1 - 3
9-116848-T-TA c.1271dup p.L424Ffs*59 Frameshift 1/1 - 2
9-116859-G-T c.1261C>A p.P421T Missense 1/1 - 2
9-116861-G-A c.1259C>T p.S420L Missense 1/1 - 1
9-116861-G-T c.1259C>A p.S420* Nonsense 1/1 - 1
9-116863-G-A c.1257C>T p.T419= Synonymous 1/1 - 1
9-116866-C-T c.1254G>A p.G418= Synonymous 1/1 - 2
9-116869-C-A c.1251G>T p.E417D Missense 1/1 - 1
9-116871-C-T c.1249G>A p.E417K Missense 1/1 - 1
9-116873-C-T c.1247G>A p.G416E Missense 1/1 - 1
9-116874-C-A c.1246G>T p.G416* Nonsense 1/1 - 1
9-116874-C-T c.1246G>A p.G416R Missense 1/1 - 3
9-116878-C-CA c.1241dup p.L414Ffs*69 Frameshift 1/1 - 1
9-116882-G-A c.1238C>T p.P413L Missense 1/1 - 1
9-116887-G-A c.1233C>T p.A411= Synonymous 1/1 - 1
9-116887-G-C c.1233C>G p.A411= Synonymous 1/1 - 1
9-116892-G-T c.1228C>A p.L410M Missense 1/1 - 1
9-116894-G-A c.1226C>T p.S409L Missense 1/1 - 1
9-116894-G-C c.1226C>G p.S409W Missense 1/1 - 1
9-116903-C-A c.1217G>T p.G406V Missense 1/1 - 1
9-116901-GC-G c.1218del p.L407* Frameshift 1/1 - 1
9-116906-G-C c.1214C>G p.S405C Missense 1/1 - 2
9-116915-G-A c.1205C>T p.A402V Missense 1/1 - 1
9-116916-C-A c.1204G>T p.A402S Missense 1/1 - 1
9-116916-C-T c.1204G>A p.A402T Missense 1/1 - 1
9-116920-C-A c.1200G>T p.A400= Synonymous 1/1 - 2
9-116920-C-G c.1200G>C p.A400= Synonymous 1/1 - 1
9-116920-C-T c.1200G>A p.A400= Synonymous 1/1 - 3
9-116921-G-A c.1199C>T p.A400V Missense 1/1 - 1
9-116916-CCACCGCCTGATACCGCAGCAGCGCCGACGCGGCCGACAGGTGCCCGCCCAG-C c.1153_1203del p.L385_V401del InFrameDeletion 1/1 - 1
9-116925-G-C c.1195C>G p.Q399E Missense 1/1 - 1
9-116931-G-A c.1189C>T p.R397W Missense 1/1 - 1
9-116939-G-A c.1181C>T p.A394V Missense 1/1 - 1
9-116941-C-T c.1179G>A p.S393= Synonymous 1/1 - 1
9-116942-G-A c.1178C>T p.S393L Missense 1/1 - 1
9-116942-G-T c.1178C>A p.S393* Nonsense 1/1 - 1
9-116945-G-A c.1175C>T p.A392V Missense 1/1 - 1
9-116946-C-T c.1174G>A p.A392T Missense 1/1 - 1
9-116947-G-A c.1173C>T p.A391= Synonymous 1/1 - 1
9-116947-G-C c.1173C>G p.A391= Synonymous 1/1 - 1
9-116947-G-T c.1173C>A p.A391= Synonymous 1/1 - 1
9-116951-G-A c.1169C>T p.S390L Missense 1/1 - 1
9-116953-C-A c.1167G>T p.L389= Synonymous 1/1 - 1
9-116953-C-G c.1167G>C p.L389= Synonymous 1/1 - 1
9-116953-C-T c.1167G>A p.L389= Synonymous 1/1 - 1
9-116955-G-A c.1165C>T p.L389= Synonymous 1/1 - 1
9-116958-G-A c.1162C>T p.H388Y Missense 1/1 - 2
9-116959-C-A c.1161G>T p.G387= Synonymous 1/1 - 2
9-116959-C-G c.1161G>C p.G387= Synonymous 1/1 - 2
9-116959-C-T c.1161G>A p.G387= Synonymous 1/1 - 2
9-116961-C-T c.1159G>A p.G387R Missense 1/1 - 1
9-116962-G-A c.1158C>T p.G386= Synonymous 1/1 - 2
9-116962-G-C c.1158C>G p.G386= Synonymous 1/1 - 2
9-116962-G-T c.1158C>A p.G386= Synonymous 1/1 - 2
9-116967-G-T c.1153C>A p.L385M Missense 1/1 - 1
9-116972-G-A c.1148C>T p.A383V Missense 1/1 - 4
9-116974-G-A c.1146C>T p.G382= Synonymous 1/1 - 1
9-116979-T-A c.1141A>T p.K381* Nonsense 1/1 - 1
9-116980-G-T c.1140C>A p.T380= Synonymous 1/1 - 1
9-116986-A-C c.1134T>G p.A378= Synonymous 1/1 - 1
9-116986-A-G c.1134T>C p.A378= Synonymous 1/1 - 1
9-116986-A-T c.1134T>A p.A378= Synonymous 1/1 - 1
9-116989-G-A c.1131C>T p.C377= Synonymous 1/1 - 2
9-116994-C-T c.1126G>A p.G376S Missense 1/1 - 1
9-117000-C-T c.1120G>A p.A374T Missense 1/1 - 2
9-117001-G-A c.1119C>T p.C373= Synonymous 1/1 - 1
9-117002-C-A c.1118G>T p.C373F Missense 1/1 - 1
9-117012-C-T c.1108G>A p.E370K Missense 1/1 - 1
9-117013-C-T c.1107G>A p.Q369= Synonymous 1/1 - 4
9-117019-C-T c.1101G>A p.R367= Synonymous 1/1 - 3
9-117020-C-T c.1100G>A p.R367Q Missense 1/1 - 3
9-117019-C-A c.1101G>T p.R367= Synonymous 1/1 - 2
9-117019-C-G c.1101G>C p.R367= Synonymous 1/1 - 2
9-117021-G-A c.1099C>T p.R367W Missense 1/1 - 2
9-117021-G-T c.1099C>A p.R367= Synonymous 1/1 - 2
9-117024-G-C c.1096C>G p.Q366E Missense 1/1 - 1
9-117025-C-T c.1095G>A p.Q365= Synonymous 1/1 - 1
9-117044-C-T c.1076G>A p.R359Q Missense 1/1 - 1
9-117071-G-A c.1049C>T p.P350L Missense 1/1 - 1
9-117072-G-A c.1048C>T p.P350S Missense 1/1 - 1
9-117077-G-A c.1043C>T p.T348I Missense 1/1 - 1
9-117083-C-G c.1037G>C p.G346A Missense 1/1 - 1
9-117086-C-A c.1034G>T p.R345L Missense 1/1 - 1
9-117095-G-A c.1025C>T p.P342L Missense 1/1 - 1
9-117096-G-A c.1024C>T p.P342S Missense 1/1 - 1
9-117104-C-A c.1016G>T p.R339I Missense 1/1 - 1
9-117114-C-T c.1006G>A p.G336R Missense 1/1 - 4
9-117111-GC-G c.1008del p.L337Cfs*71 Frameshift 1/1 - 1
9-117116-T-G c.1004A>C p.Q335P Missense 1/1 - 1
9-117123-G-A c.997C>T p.R333W Missense 1/1 - 1
9-117125-T-G c.995A>C p.E332A Missense 1/1 - 1
9-117131-G-A c.989C>T p.S330L Missense 1/1 - 1
9-117133-CCC-GCT c.985_987delinsAGC p.G329S Missense 1/1 - 1
9-117145-T-A c.975A>T p.V325= Synonymous 1/1 - 1
9-117145-T-C c.975A>G p.V325= Synonymous 1/1 - 1
9-117145-T-G c.975A>C p.V325= Synonymous 1/1 - 1
9-117146-A-G c.974T>C p.V325A Missense 1/1 - 1
9-117151-C-T c.969G>A p.L323= Synonymous 1/1 - 1
9-117155-TGC-T c.964_965del p.A322Ifs*160 Frameshift 1/1 - 2
9-117158-G-A c.962C>T p.S321L Missense 1/1 - 1
9-117158-GAA-G c.960_961del p.A322Ifs*160 Frameshift 1/1 - 2
9-117161-A-C c.959T>G p.L320R Missense 1/1 - 1
9-117172-C-A c.948G>T p.A316= Synonymous 1/1 - 1
9-117179-CG-TA c.940_941delinsTA p.R314* Nonsense 1/1 - 1
9-117180-G-A c.940C>T p.R314W Missense 1/1 - 1
9-117184-GC-TT c.935_936delinsAA p.R312Q Missense 1/1 - 1
9-117186-G-A c.934C>T p.R312C Missense 1/1 - 1
9-117205-C-A c.915G>T p.R305S Missense 1/1 - 1
9-117211-A-C c.909T>G p.L303= Synonymous 1/1 - 1
9-117211-A-G c.909T>C p.L303= Synonymous 1/1 - 1
9-117211-A-T c.909T>A p.L303= Synonymous 1/1 - 1
9-117212-A-C c.908T>G p.L303R Missense 1/1 - 1
9-117217-G-A c.903C>T p.L301= Synonymous 1/1 - 1
9-117223-C-G c.897G>C p.L299F Missense 1/1 - 1
9-117228-TG-T c.892del p.H298Tfs*26 Frameshift 1/1 - 1
9-117232-GGC-G c.887_888del p.S296Tfs*186 Frameshift 1/1 - 1
9-117232-G-T c.888C>A p.S296R Missense 1/1 - 2
9-117233-CT-AG c.886_887inv p.S296L Missense 1/1 - 1
9-117242-G-A c.878C>T p.P293L Missense 1/1 - 1
9-117248-G-A c.872C>T p.P291L Missense 1/1 - 2
9-117252-C-T c.868G>A p.A290T Missense 1/1 - 1
9-117255-G-A c.865C>T p.P289S Missense 1/1 - 1
9-117260-G-A c.860C>T p.A287V Missense 1/1 - 2
9-117268-C-A c.852G>T p.A284= Synonymous 1/1 - 1
9-117268-C-G c.852G>C p.A284= Synonymous 1/1 - 1
9-117268-C-T c.852G>A p.A284= Synonymous 1/1 - 1
9-117269-G-A c.851C>T p.A284V Missense 1/1 - 1
9-117288-G-T c.832C>A p.P278T Missense 1/1 - 1
9-117291-C-T c.829G>A p.A277T Missense 1/1 - 1
9-117293-C-T c.827G>A p.G276E Missense 1/1 - 1
9-117299-T-C c.821A>G p.Y274C Missense 1/1 - 1
9-117311-G-T c.809C>A p.S270* Nonsense 1/1 - 1
9-117313-G-C c.807C>G p.L269= Synonymous 1/1 - 1
9-117317-A-G c.803T>C p.L268P Missense 1/1 - 1
9-117318-G-A c.802C>T p.L268= Synonymous 1/1 - 2
9-117326-C-T c.794G>A p.R265H Missense 1/1 - 2
9-117327-G-A c.793C>T p.R265C Missense 1/1 - 1
9-117330-G-A c.790C>T p.P264S Missense 1/1 - 1
9-117333-G-A c.787C>T p.P263S Missense 1/1 - 1
9-117343-C-A c.777G>T p.L259= Synonymous 1/1 - 1
9-117343-C-G c.777G>C p.L259= Synonymous 1/1 - 1
9-117343-C-T c.777G>A p.L259= Synonymous 1/1 - 1
9-117345-G-A c.775C>T p.L259= Synonymous 1/1 - 1
9-117344-A-C c.776T>G p.L259R Missense 1/1 - 1
9-117349-A-C c.771T>G p.A257= Synonymous 1/1 - 1
9-117349-A-G c.771T>C p.A257= Synonymous 1/1 - 1
9-117349-A-T c.771T>A p.A257= Synonymous 1/1 - 1
9-117350-G-C c.770C>G p.A257G Missense 1/1 - 2
9-117352-G-A c.768C>T p.Y256= Synonymous 1/1 - 2
9-117352-G-T c.768C>A p.Y256* Nonsense 1/1 - 1
9-117355-A-C c.765T>G p.P255= Synonymous 1/1 - 1
9-117355-A-G c.765T>C p.P255= Synonymous 1/1 - 2
9-117355-A-T c.765T>A p.P255= Synonymous 1/1 - 1
9-117358-G-A c.762C>T p.R254= Synonymous 1/1 - 2
9-117358-G-C c.762C>G p.R254= Synonymous 1/1 - 2
9-117358-G-T c.762C>A p.R254= Synonymous 1/1 - 2
9-117362-CT-TC c.757_758delinsGA p.R253E Missense 1/1 - 1
9-117363-T-TA c.756_757insT p.R253* Nonsense 1/1 - 1
9-117364-C-T c.756G>A p.G252= Synonymous 1/1 - 1
9-117363-T-TC c.756dup p.R253Efs*230 Frameshift 1/1 - 1
9-117366-C-CCA c.753_754insTG p.G252Wfs*73 Frameshift 1/1 - 2
9-117366-C-CCG c.753_754insCG p.G252Rfs*73 Frameshift 1/1 - 5
9-117366-C-CCGG c.753_754insCCG p.P251dup InFrameInsertion 1/1 - 2
9-117366-C-G c.754G>C p.G252R Missense 1/1 - 1
9-117366-C-T c.754G>A p.G252R Missense 1/1 - 1
9-117367-G-A c.753C>T p.P251= Synonymous 1/1 - 3
9-117367-G-C c.753C>G p.P251= Synonymous 1/1 - 4
9-117367-G-T c.753C>A p.P251= Synonymous 1/1 - 3
9-117370-G-A c.750C>T p.G250= Synonymous 1/1 - 2
9-117370-G-C c.750C>G p.G250= Synonymous 1/1 - 2
9-117370-G-T c.750C>A p.G250= Synonymous 1/1 - 2
9-117371-C-G c.749G>C p.G250A Missense 1/1 - 17
9-117371-GCC-G c.748_749del p.G250Pfs*232 Frameshift 1/1 - 3
9-117370-GC-G c.749del p.G250Afs*74 Frameshift 1/1 - 1
9-117372-C-G c.748G>C p.G250R Missense 1/1 - 7
9-117373-CGGTGTTGGGG-C c.738_747del p.Y246* Frameshift 1/1 - 1
9-117380-G-A c.740C>T p.P247L Missense 1/1 - 1
9-117384-A-ACCCCAACAC c.735_736insGTGTTGGGG p.A245_Y246insVLG InFrameInsertion 1/1 - 1
9-117386-G-T c.734C>A p.A245D Missense 1/1 - 1
9-117392-G-A c.728C>T p.P243L Missense 1/1 - 1
9-117393-G-A c.727C>T p.P243S Missense 1/1 - 1
9-117395-A-G c.725T>C p.V242A Missense 1/1 - 1
9-117404-G-T c.716C>A p.P239Q Missense 1/1 - 1
9-117403-C-CG c.716dup p.Q240Afs*243 Frameshift 1/1 - 1
9-117406-C-CG c.713dup p.P239Afs*244 Frameshift 1/1 - 1
9-117412-A-G c.708T>C p.P236= Synonymous 1/1 - 1
9-117414-G-A c.706C>T p.P236S Missense 1/1 - 1
9-117416-G-T c.704C>A p.A235D Missense 1/1 - 2
9-117427-A-C c.693T>G p.P231= Synonymous 1/1 - 2
9-117427-A-G c.693T>C p.P231= Synonymous 1/1 - 2
9-117427-A-T c.693T>A p.P231= Synonymous 1/1 - 2
9-117428-G-C c.692C>G p.P231R Missense 1/1 - 15
9-117429-G-A c.691C>T p.P231S Missense 1/1 - 2
9-117429-G-C c.691C>G p.P231A Missense 1/1 - 1
9-117430-G-A c.690C>T p.G230= Synonymous 1/1 - 1
9-117445-G-A c.675C>T p.H225= Synonymous 1/1 - 1
9-117445-G-C c.675C>G p.H225Q Missense 1/1 - 2
9-117445-G-T c.675C>A p.H225Q Missense 1/1 - 1
9-117454-G-A c.666C>T p.A222= Synonymous 1/1 - 1
9-117456-C-T c.664G>A p.A222T Missense 1/1 - 2
9-117457-G-A c.663C>T p.H221= Synonymous 1/1 - 1
9-117457-G-C c.663C>G p.H221Q Missense 1/1 - 1
9-117457-G-T c.663C>A p.H221Q Missense 1/1 - 1
9-117463-A-C c.657T>G p.A219= Synonymous 1/1 - 2
9-117466-A-C c.654T>G p.P218= Synonymous 1/1 - 1
9-117475-G-A c.645C>T p.F215= Synonymous 1/1 - 3
9-117480-G-C c.640C>G p.P214A Missense 1/1 - 2
9-117482-T-G c.638A>C p.H213P Missense 1/1 - 1
9-117487-C-G c.633G>C p.L211= Synonymous 1/1 - 3
9-117487-C-T c.633G>A p.L211= Synonymous 1/1 - 3
9-117490-G-A c.630C>T p.H210= Synonymous 1/1 - 1
9-117497-CC-TT c.622_623delinsAA p.G208K Missense 1/1 - 3
9-117497-C-T c.623G>A p.G208E Missense 1/1 - 2
9-117498-C-G c.622G>C p.G208R Missense 1/1 - 1
9-117498-C-T c.622G>A p.G208R Missense 1/1 - 2
9-117502-G-A c.618C>T p.T206= Synonymous 1/1 - 1
9-117506-G-A c.614C>T p.P205L Missense 1/1 - 16
9-117506-G-T c.614C>A p.P205Q Missense 1/1 - 2
9-117511-G-C c.609C>G p.H203Q Missense 1/1 - 1
9-117514-G-A c.606C>T p.R202= Synonymous 1/1 - 1
9-117514-G-C c.606C>G p.R202= Synonymous 1/1 - 1
9-117514-GC-TT c.605_606delinsAA p.R202Q Missense 1/1 - 1
9-117514-G-T c.606C>A p.R202= Synonymous 1/1 - 1
9-117515-C-T c.605G>A p.R202H Missense 1/1 - 1
9-117516-G-A c.604C>T p.R202C Missense 1/1 - 2
9-117517-C-A c.603G>T p.Q201H Missense 1/1 - 1
9-117517-C-G c.603G>C p.Q201H Missense 1/1 - 1
9-117518-T-C c.602A>G p.Q201R Missense 1/1 - 1
9-117519-G-A c.601C>T p.Q201* Nonsense 1/1 - 1
9-117519-G-T c.601C>A p.Q201K Missense 1/1 - 1
9-117520-G-A c.600C>T p.F200= Synonymous 1/1 - 3
9-117533-C-T c.587G>A p.R196H Missense 1/1 - 1
9-117534-G-A c.586C>T p.R196C Missense 1/1 - 1
9-117535-C-T c.585G>A p.R195= Synonymous 1/1 - 1
9-117536-C-T c.584G>A p.R195Q Missense 1/1 - 1
9-117541-A-G c.579T>C p.F193= Synonymous 1/1 - 1
9-117544-G-A c.576C>T p.S192= Synonymous 1/1 - 1
9-117550-A-C c.570T>G p.N190K Missense 1/1 - 2
9-117553-G-C c.567C>G p.D189E Missense 1/1 - 1
9-117553-G-T c.567C>A p.D189E Missense 1/1 - 1
9-117563-T-C c.557A>G p.D186G Missense 1/1 - 2
9-117572-G-A c.548C>T p.A183V Missense 1/1 - 1
9-117573-C-T c.547G>A p.A183T Missense 1/1 - 1
9-117573-GC-G c.547del p.A183Pfs*141 Frameshift 1/1 - 1
9-117574-G-A c.546C>T p.P182= Synonymous 1/1 - 1
9-117574-G-C c.546C>G p.P182= Synonymous 1/1 - 1
9-117574-GGG-TTA c.544_546delinsTAA p.P182* Nonsense 1/1 - 1
9-117574-G-T c.546C>A p.P182= Synonymous 1/1 - 1
9-117575-G-T c.545C>A p.P182H Missense 1/1 - 1
9-117573-CG-C c.546del p.A183Pfs*141 Frameshift 1/1 - 1
9-117579-C-A c.541G>T p.D181Y Missense 1/1 - 3
9-117579-C-G c.541G>C p.D181H Missense 1/1 - 1
9-117579-C-T c.541G>A p.D181N Missense 1/1 - 1
9-117583-G-A c.537C>T p.S179= Synonymous 1/1 - 2
9-117584-C-T c.536G>A p.S179N Missense 1/1 - 2
9-117587-C-T c.533G>A p.W178* Nonsense 1/1 - 1
9-117596-C-T c.524G>A p.G175D Missense 1/1 - 1
9-117607-G-A c.513C>T p.R171= Synonymous 1/1 - 1
9-117607-G-C c.513C>G p.R171= Synonymous 1/1 - 1
9-117607-G-T c.513C>A p.R171= Synonymous 1/1 - 4
9-117610-GC-CT c.509_510delinsAG p.G170E Missense 1/1 - 1
9-117613-CG-AT c.506_507delinsAT p.P169H Missense 1/1 - 1
9-117614-G-A c.506C>T p.P169L Missense 1/1 - 1
9-117617-T-C c.503A>G p.E168G Missense 1/1 - 1
9-117619-G-A c.501C>T p.R167= Synonymous 1/1 - 1
9-117619-G-C c.501C>G p.R167= Synonymous 1/1 - 1
9-117625-G-A c.495C>T p.I165= Synonymous 1/1 - 2
9-117625-G-T c.495C>A p.I165= Synonymous 1/1 - 1
9-117629-T-C c.491A>G p.K164R Missense 1/1 - 1
9-117634-G-A c.486C>T p.F162= Synonymous 1/1 - 1
9-117634-G-C c.486C>G p.F162L Missense 1/1 - 1
9-117634-G-T c.486C>A p.F162L Missense 1/1 - 1
9-117636-A-C c.484T>G p.F162V Missense 1/1 - 1
9-117636-A-G c.484T>C p.F162L Missense 1/1 - 1
9-117644-T-C c.476A>G p.N159S Missense 1/1 - 1
9-117649-C-T c.471G>A p.S157= Synonymous 1/1 - 1
9-117650-G-A c.470C>T p.S157L Missense 1/1 - 1
9-117654-G-A c.466C>T p.L156F Missense 1/1 - 3
9-117657-T-C c.463A>G p.N155D Missense 1/1 - 2
9-117659-T-C c.461A>G p.H154R Missense 1/1 - 1
9-117662-C-A c.458G>T p.R153L Missense 1/1 - 1
9-117662-C-G c.458G>C p.R153P Missense 1/1 - 1
9-117663-G-A c.457C>T p.R153C Missense 1/1 - 4
9-117664-G-A c.456C>T p.I152= Synonymous 1/1 - 3
9-117664-G-T c.456C>A p.I152= Synonymous 1/1 - 3
9-117666-T-C c.454A>G p.I152V Missense 1/1 - 10
9-117668-C-T c.452G>A p.S151N Missense 1/1 - 2
9-117678-A-G c.442T>C p.W148R Missense 1/1 - 2
9-117678-A-T c.442T>A p.W148R Missense 1/1 - 2
9-117682-G-A c.438C>T p.P146= Synonymous 1/1 - 3
9-117684-G-A c.436C>T p.P146S Missense 1/1 - 4
9-117689-T-C c.431A>G p.K144R Missense 1/1 - 1
9-117691-G-T c.429C>A p.R143= Synonymous 1/1 - 1
9-117693-G-A c.427C>T p.R143C Missense 1/1 - 3
9-117694-G-A c.426C>T p.R142= Synonymous 1/1 - 6
9-117694-G-C c.426C>G p.R142= Synonymous 1/1 - 2
9-117694-GCG-TCA c.424_426delinsTGA p.R142* Nonsense 1/1 - 1
9-117694-G-T c.426C>A p.R142= Synonymous 1/1 - 2
9-117695-C-T c.425G>A p.R142H Missense 1/1 - 1
9-117696-G-A c.424C>T p.R142C Missense 1/1 - 19
9-117711-G-A c.409C>T p.R137C Missense 1/1 - 1
9-117712-G-A c.408C>T p.D136= Synonymous 1/1 - 2
9-117713-T-C c.407A>G p.D136G Missense 1/1 - 20
9-117713-T-G c.407A>C p.D136A Missense 1/1 - 2
9-117714-C-T c.406G>A p.D136N Missense 1/1 - 2
9-117715-A-C c.405T>G p.S135R Missense 1/1 - 1
9-117715-A-T c.405T>A p.S135R Missense 1/1 - 1
9-117717-T-G c.403A>C p.S135R Missense 1/1 - 1
9-117716-C-T c.404G>A p.S135N Missense 1/1 - 1
9-117721-G-A c.399C>T p.F133= Synonymous 1/1 - 2
9-117726-C-T c.394G>A p.A132T Missense 1/1 - 1
9-117734-C-T c.386G>A p.G129D Missense 1/1 - 1
9-117736-G-T c.384C>A p.S128R Missense 1/1 - 1
9-117739-G-A c.381C>T p.L127= Synonymous 1/1 - 1
9-117745-G-C c.375C>G p.L125= Synonymous 1/1 - 1
9-117756-G-A c.364C>T p.H122Y Missense 1/1 - 1
9-117758-G-A c.362C>T p.P121L Missense 1/1 - 1
9-117773-G-A c.347C>T p.A116V Missense 1/1 - 1
9-117774-C-T c.346G>A p.A116T Missense 1/1 - 1
9-117777-T-C c.343A>G p.M115V Missense 1/1 - 1
9-117780-T-C c.340A>G p.T114A Missense 1/1 - 2
9-117788-G-A c.332C>T p.A111V Missense 1/1 - 1
9-117789-C-T c.331G>A p.A111T Missense 1/1 - 1
9-117790-G-A c.330C>T p.I110= Synonymous 1/1 - 1
9-117790-G-T c.330C>A p.I110= Synonymous 1/1 - 1
9-117796-C-A c.324G>T p.S108= Synonymous 1/1 - 1
9-117796-C-G c.324G>C p.S108= Synonymous 1/1 - 3
9-117796-C-T c.324G>A p.S108= Synonymous 1/1 - 1
9-117797-G-A c.323C>T p.S108L Missense 1/1 - 1
9-117798-A-AG c.321dup p.S108Lfs*28 Frameshift 1/1 - 1
9-117800-G-C c.320C>G p.S107C Missense 1/1 - 1
9-117800-G-T c.320C>A p.S107Y Missense 1/1 - 23
9-117803-G-C c.317C>G p.P106R Missense 1/1 - 1
9-117801-A-AG c.318dup p.S107Lfs*29 Frameshift 1/1 - 1
9-117801-AG-A c.318del p.S107Pfs*52 Frameshift 1/1 - 1
9-117807-G-A c.313C>T p.P105S Missense 1/1 - 1
9-117808-C-A c.312G>T p.K104N Missense 1/1 - 1
9-117808-C-G c.312G>C p.K104N Missense 1/1 - 1
9-117808-C-T c.312G>A p.K104= Synonymous 1/1 - 3
9-117809-T-A c.311A>T p.K104M Missense 1/1 - 1
9-117814-C-T c.306G>A p.P102= Synonymous 1/1 - 1
9-117815-G-A c.305C>T p.P102L Missense 1/1 - 1
9-117815-G-T c.305C>A p.P102Q Missense 1/1 - 1
9-117816-G-A c.304C>T p.P102S Missense 1/1 - 2
9-117822-G-A c.298C>T p.R100W Missense 1/1 - 1
9-117826-A-G c.294T>C p.D98= Synonymous 1/1 - 1
9-117835-G-A c.285C>T p.A95= Synonymous 1/1 - 2
9-117838-C-T c.282G>A p.A94= Synonymous 1/1 - 1
9-117839-G-A c.281C>T p.A94V Missense 1/1 - 1
9-117840-C-A c.280G>T p.A94S Missense 1/1 - 1
9-117842-G-A c.278C>T p.A93V Missense 1/1 - 1
9-117843-C-T c.277G>A p.A93T Missense 1/1 - 2
9-117845-G-A c.275C>T p.S92F Missense 1/1 - 1
9-117846-A-G c.274T>C p.S92P Missense 1/1 - 5
9-117851-G-T c.269C>A p.P90Q Missense 1/1 - 1
9-117853-C-A c.267G>T p.P89= Synonymous 1/1 - 2
9-117853-C-G c.267G>C p.P89= Synonymous 1/1 - 2
9-117853-C-T c.267G>A p.P89= Synonymous 1/1 - 3
9-117854-G-A c.266C>T p.P89L Missense 1/1 - 1
9-117858-C-T c.262G>A p.A88T Missense 1/1 - 1
9-117859-C-T c.261G>A p.R87= Synonymous 1/1 - 1
9-117861-T-G c.259A>C p.R87= Synonymous 1/1 - 1
9-117862-G-C c.258C>G p.F86L Missense 1/1 - 1
9-117862-G-T c.258C>A p.F86L Missense 1/1 - 1
9-117864-A-G c.256T>C p.F86L Missense 1/1 - 1
9-117865-C-T c.255G>A p.E85= Synonymous 1/1 - 1
9-117869-G-A c.251C>T p.T84I Missense 1/1 - 1
9-117872-C-T c.248G>A p.G83D Missense 1/1 - 1
9-117873-C-G c.247G>C p.G83R Missense 1/1 - 4
9-117873-C-T c.247G>A p.G83S Missense 1/1 - 1
9-117876-A-T c.244T>A p.F82I Missense 1/1 - 1
9-117877-C-G c.243G>C p.E81D Missense 1/1 - 2
9-117877-C-T c.243G>A p.E81= Synonymous 1/1 - 8
9-117879-C-G c.241G>C p.E81Q Missense 1/1 - 3
9-117880-CTG-C c.239_240del p.S80* Frameshift 1/1 - 1
9-117880-T-A c.240A>T p.S80= Synonymous 1/1 - 1
9-117880-T-C c.240A>G p.S80= Synonymous 1/1 - 1
9-117880-T-G c.240A>C p.S80= Synonymous 1/1 - 1
9-117881-G-C c.239C>G p.S80* Nonsense 1/1 - 1
9-117881-G-T c.239C>A p.S80* Nonsense 1/1 - 1
9-117885-G-A c.235C>T p.P79S Missense 1/1 - 3
9-117888-C-T c.232G>A p.D78N Missense 1/1 - 1
9-117889-G-A c.231C>T p.S77= Synonymous 1/1 - 3
9-117889-G-C c.231C>G p.S77R Missense 1/1 - 2
9-117889-G-T c.231C>A p.S77R Missense 1/1 - 2
9-117891-T-G c.229A>C p.S77R Missense 1/1 - 3
9-117893-G-T c.227C>A p.P76Q Missense 1/1 - 1
9-117895-G-A c.225C>T p.G75= Synonymous 1/1 - 1
9-117896-C-T c.224G>A p.G75D Missense 1/1 - 1
9-117898-G-A c.222C>T p.G74= Synonymous 1/1 - 3
9-117898-G-C c.222C>G p.G74= Synonymous 1/1 - 1
9-117898-G-T c.222C>A p.G74= Synonymous 1/1 - 1
9-117901-G-A c.219C>T p.G73= Synonymous 1/1 - 3
9-117903-C-G c.217G>C p.G73R Missense 1/1 - 2
9-117904-G-T c.216C>A p.G72= Synonymous 1/1 - 1
9-117906-C-G c.214G>C p.G72R Missense 1/1 - 1
9-117909-C-G c.211G>C p.E71Q Missense 1/1 - 3
9-117909-C-T c.211G>A p.E71K Missense 1/1 - 2
9-117910-G-A c.210C>T p.I70= Synonymous 1/1 - 3
9-117910-G-T c.210C>A p.I70= Synonymous 1/1 - 1
9-117927-G-C c.193C>G p.L65V Missense 1/1 - 1
9-117930-C-CA c.189dup p.A64Cfs*34 Frameshift 1/1 - 1
9-117934-C-A c.186G>T p.G62= Synonymous 1/1 - 6
9-117934-C-G c.186G>C p.G62= Synonymous 1/1 - 8
9-117934-C-T c.186G>A p.G62= Synonymous 1/1 - 3
9-117937-GC-CT c.182_183delinsAG p.G61E Missense 1/1 - 1
9-117948-C-A c.172G>T p.A58S Missense 1/1 - 1
9-117953-T-G c.167A>C p.Q56P Missense 1/1 - 1
9-117962-G-A c.158C>T p.P53L Missense 1/1 - 3
9-117963-G-A c.157C>T p.P53S Missense 1/1 - 1
9-117970-CG-AT c.149_150delinsAT p.S50Y Missense 1/1 - 1
9-117985-C-A c.135G>T p.Q45H Missense 1/1 - 1
9-117994-C-G c.126G>C p.A42= Synonymous 1/1 - 1
9-117994-C-T c.126G>A p.A42= Synonymous 1/1 - 1
9-117997-CGC-GTT c.121_123delinsAAC p.A41N Missense 1/1 - 1
9-117998-G-A c.122C>T p.A41V Missense 1/1 - 1
9-117998-G-C c.122C>G p.A41G Missense 1/1 - 2
9-117998-GC-CT c.121_122delinsAG p.A41R Missense 1/1 - 1
9-117998-GC-TG c.121_122delinsCA p.A41Q Missense 1/1 - 1
9-117998-G-T c.122C>A p.A41E Missense 1/1 - 18
9-117999-C-A c.121G>T p.A41S Missense 1/1 - 1
9-117999-C-G c.121G>C p.A41P Missense 1/1 - 1
9-117999-C-T c.121G>A p.A41T Missense 1/1 - 1
9-118002-C-T c.118G>A p.E40K Missense 1/1 - 2
9-118003-C-A c.117G>T p.E39D Missense 1/1 - 1
9-118003-C-T c.117G>A p.E39= Synonymous 1/1 - 2
9-118004-T-A c.116A>T p.E39V Missense 1/1 - 5
9-117998-GCCT-G c.119_121del p.E40del InFrameDeletion 1/1 - 1
9-118009-G-A c.111C>T p.D37= Synonymous 1/1 - 4
9-118004-T-TCCTCGTCTTCCA c.115_116insTGGAAGACGAGG p.E38_E39insVEDE InFrameInsertion 1/1 - 2
9-118004-T-TCCTCGTCTTCCC c.115_116insGGGAAGACGAGG p.E38_E39insGEDE InFrameInsertion 1/1 - 1
9-118018-T-A c.102A>T p.E34D Missense 1/1 - 1
9-118022-T-A c.98A>T p.E33V Missense 1/1 - 1
9-118025-T-C c.95A>G p.E32G Missense 1/1 - 1
9-118026-C-A c.94G>T p.E32* Nonsense 1/1 - 1
9-118030-C-A c.90G>T p.L30= Synonymous 1/1 - 2
9-118030-C-G c.90G>C p.L30= Synonymous 1/1 - 2
9-118030-C-T c.90G>A p.L30= Synonymous 1/1 - 2
9-118032-G-A c.88C>T p.L30= Synonymous 1/1 - 9
9-118031-A-G c.89T>C p.L30P Missense 1/1 - 1
9-118032-G-C c.88C>G p.L30V Missense 1/1 - 2
9-118033-G-A c.87C>T p.V29= Synonymous 1/1 - 3
9-118035-C-T c.85G>A p.V29I Missense 1/1 - 1
9-118038-C-T c.82G>A p.D28N Missense 1/1 - 1
9-118039-G-A c.81C>T p.I27= Synonymous 1/1 - 4
9-118039-G-T c.81C>A p.I27= Synonymous 1/1 - 3
9-118044-T-A c.76A>T p.K26* Nonsense 1/1 - 1
9-118047-C-T c.73G>A p.G25S Missense 1/1 - 1
9-118055-C-T c.65G>A p.G22E Missense 1/1 - 1
9-118058-T-G c.62A>C p.D21A Missense 1/1 - 1
9-118058-T-TC c.61dup p.D21Gfs*6 Frameshift 1/1 - 1
9-118060-G-C c.60C>G p.S20= Synonymous 1/1 - 1
9-118061-G-A c.59C>T p.S20F Missense 1/1 - 1
9-118065-C-A c.55G>T p.D19Y Missense 1/1 - 3
9-118067-C-T c.53G>A p.R18Q Missense 1/1 - 2
9-118068-G-A c.52C>T p.R18W Missense 1/1 - 1
9-118069-G-A c.51C>T p.L17= Synonymous 1/1 - 1
9-118069-G-C c.51C>G p.L17= Synonymous 1/1 - 1
9-118069-G-T c.51C>A p.L17= Synonymous 1/1 - 1
9-118076-C-T c.44G>A p.R15H Missense 1/1 - 3
9-118077-G-A c.43C>T p.R15C Missense 1/1 - 1
9-118082-G-A c.38C>T p.P13L Missense 1/1 - 4
9-118084-T-G c.36A>C p.T12= Synonymous 1/1 - 1
9-118090-GCG-CAT c.28_30delinsATG p.R10M Missense 1/1 - 1
9-118092-G-A c.28C>T p.R10C Missense 1/1 - 5
9-118096-GCG-CTT c.22_24delinsAAG p.R8K Missense 1/1 - 1
9-118097-C-T c.23G>A p.R8H Missense 1/1 - 1
9-118098-G-A c.22C>T p.R8C Missense 1/1 - 3
9-118099-C-G c.21G>C p.E7D Missense 1/1 - 1
9-118106-C-T c.14G>A p.R5K Missense 1/1 - 4
9-118107-T-C c.13A>G p.R5G Missense 1/1 - 1
9-118108-T-A c.12A>T p.P4= Synonymous 1/1 - 1
9-118108-T-C c.12A>G p.P4= Synonymous 1/1 - 1
9-118108-T-G c.12A>C p.P4= Synonymous 1/1 - 1
9-118111-C-T c.9G>A p.L3= Synonymous 1/1 - 1
9-118113-A-G c.7T>C p.L3= Synonymous 1/1 - 1
9-118115-T-C c.5A>G p.N2S Missense 1/1 - 1
9-118123-G-A c.-4C>T - 5-UTRSNV 1/1 - 1
9-118172-C-CG c.-54_-53insC - 5-UTRInsertion 1/1 - 4
9-118173-C-G c.-54G>C - 5-UTRSNV 1/1 - 7
9-118173-C-T c.-54G>A - 5-UTRSNV 1/1 - 7
9-118173-C-CG c.-55dup - 5-UTRInsertion 1/1 - 1
9-118221-C-T c.-102G>A - 5-UTRSNV 1/1 - 1
9-118250-C-A c.-131G>T - 5-UTRSNV 1/1 - 2
9-118250-C-G c.-131G>C - 5-UTRSNV 1/1 - 2
9-118298-C-T c.-179G>A - 5-UTRSNV 1/1 - 3
9-118339-G-T c.-220C>A - 5-UTRSNV 1/1 - 3
9-118342-T-C c.-223A>G - 5-UTRSNV 1/1 - 3
9-118345-C-G c.-226G>C - 5-UTRSNV 1/1 - 2
9-118362-C-T c.-243G>A - 5-UTRSNV 1/1 - 1