GDF2

GDF2 growth differentiation factor 2

Annotation transcript: NM_016204.4

553 unique variant annotations were identified in 362 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
10-48411796-G-A c.*1782C>T - IntergenicSNV 2/2 - 2
10-48411796-G-T c.*1782C>A - IntergenicSNV 2/2 - 2
10-48412337-A-C c.*1241T>G - IntergenicSNV 2/2 - 2
10-48412337-A-G c.*1241T>C - IntergenicSNV 2/2 - 2
10-48412337-A-T c.*1241T>A - IntergenicSNV 2/2 - 2
10-48412830-G-T c.*748C>A - IntergenicSNV 2/2 - 4
10-48413181-T-A c.*397A>T - 3-UTRSNV 2/2 - 6
10-48413181-T-G c.*397A>C - 3-UTRSNV 2/2 - 6
10-48413273-C-T c.*305G>A - 3-UTRSNV 2/2 - 2
10-48413586-A-G c.1282T>C p.C428R Missense 2/2 - 4
10-48413594-T-A c.1274A>T p.E425V Missense 2/2 - 4
10-48413601-C-A c.1267G>T p.V423L Missense 2/2 - 1
10-48413601-C-G c.1267G>C p.V423L Missense 2/2 - 1
10-48413601-C-T c.1267G>A p.V423M Missense 2/2 - 3
10-48413602-G-C c.1266C>G p.S422R Missense 2/2 - 1
10-48413602-G-T c.1266C>A p.S422R Missense 2/2 - 1
10-48413604-T-G c.1264A>C p.S422R Missense 2/2 - 1
10-48413603-C-A c.1265G>T p.S422I Missense 2/2 - 1
10-48413607-T-A c.1261A>T p.M421L Missense 2/2 - 1
10-48413607-T-G c.1261A>C p.M421L Missense 2/2 - 1
10-48413609-C-A c.1259G>T p.G420V Missense 2/2 - 1
10-48413610-C-A c.1258G>T p.G420C Missense 2/2 - 1
10-48413613-C-T c.1255G>A p.E419K Missense 2/2 - 1
10-48413614-G-A c.1254C>T p.Y418= Synonymous 2/2 - 4
10-48413624-T-C c.1244A>G p.K415R Missense 2/2 - 2
10-48413625-T-C c.1243A>G p.K415E Missense 2/2 - 1
10-48413629-G-A c.1239C>T p.T413= Synonymous 2/2 - 2
10-48413629-G-C c.1239C>G p.T413= Synonymous 2/2 - 1
10-48413629-G-T c.1239C>A p.T413= Synonymous 2/2 - 1
10-48413630-G-GCAAGATGTGCTTCT c.1237_1238insAGAAGCACATCTTG p.T413Kfs*14 Frameshift 2/2 - 1
10-48413630-G-T c.1238C>A p.T413N Missense 2/2 - 3
10-48413634-G-A c.1234C>T p.P412S Missense 2/2 - 1
10-48413635-C-A c.1233G>T p.V411= Synonymous 2/2 - 1
10-48413635-C-G c.1233G>C p.V411= Synonymous 2/2 - 1
10-48413635-C-T c.1233G>A p.V411= Synonymous 2/2 - 1
10-48413636-A-C c.1232T>G p.V411G Missense 2/2 - 1
10-48413636-A-G c.1232T>C p.V411A Missense 2/2 - 2
10-48413639-C-A c.1229G>T p.G410V Missense 2/2 - 3
10-48413639-C-T c.1229G>A p.G410E Missense 2/2 - 3
10-48413640-C-A c.1228G>T p.G410W Missense 2/2 - 1
10-48413645-T-C c.1223A>G p.D408G Missense 2/2 - 3
10-48413649-C-T c.1219G>A p.D407N Missense 2/2 - 4
10-48413657-A-C c.1211T>G p.L404R Missense 2/2 - 1
10-48413658-G-T c.1210C>A p.L404I Missense 2/2 - 1
10-48413659-G-A c.1209C>T p.V403= Synonymous 2/2 - 1
10-48413661-C-T c.1207G>A p.V403I Missense 2/2 - 9
10-48413662-G-A c.1206C>T p.S402= Synonymous 2/2 - 1
10-48413663-G-A c.1205C>T p.S402F Missense 2/2 - 5
10-48413669-G-A c.1199C>T p.P400L Missense 2/2 - 3
10-48413671-G-C c.1197C>G p.S399R Missense 2/2 - 2
10-48413671-G-T c.1197C>A p.S399R Missense 2/2 - 3
10-48413673-T-G c.1195A>C p.S399R Missense 2/2 - 2
10-48413674-C-A c.1194G>T p.L398= Synonymous 2/2 - 1
10-48413674-C-G c.1194G>C p.L398= Synonymous 2/2 - 1
10-48413674-C-T c.1194G>A p.L398= Synonymous 2/2 - 1
10-48413676-G-A c.1192C>T p.L398= Synonymous 2/2 - 1
10-48413677-T-A c.1191A>T p.K397N Missense 2/2 - 4
10-48413681-G-A c.1187C>T p.T396I Missense 2/2 - 1
10-48413683-G-A c.1185C>T p.P395= Synonymous 2/2 - 1
10-48413684-G-T c.1184C>A p.P395H Missense 2/2 - 1
10-48413688-C-T c.1180G>A p.V394M Missense 2/2 - 1
10-48413690-C-A c.1178G>T p.C393F Missense 2/2 - 1
10-48413701-G-A c.1167C>T p.G389= Synonymous 2/2 - 1
10-48413701-G-C c.1167C>G p.G389= Synonymous 2/2 - 1
10-48413701-G-T c.1167C>A p.G389= Synonymous 2/2 - 1
10-48413709-T-A c.1159A>T p.K387* Nonsense 2/2 - 2
10-48413716-G-A c.1152C>T p.F384= Synonymous 2/2 - 1
10-48413716-G-C c.1152C>G p.F384L Missense 2/2 - 1
10-48413716-G-T c.1152C>A p.F384L Missense 2/2 - 1
10-48413718-A-G c.1150T>C p.F384L Missense 2/2 - 3
10-48413719-C-A c.1149G>T p.K383N Missense 2/2 - 5
10-48413719-C-G c.1149G>C p.K383N Missense 2/2 - 4
10-48413731-C-A c.1137G>T p.L379= Synonymous 2/2 - 1
10-48413742-C-T c.1126G>A p.V376M Missense 2/2 - 1
10-48413743-G-A c.1125C>T p.I375= Synonymous 2/2 - 1
10-48413747-G-A c.1121C>T p.A374V Missense 2/2 - 1
10-48413755-C-A c.1113G>T p.T371= Synonymous 2/2 - 1
10-48413755-C-G c.1113G>C p.T371= Synonymous 2/2 - 1
10-48413755-C-T c.1113G>A p.T371= Synonymous 2/2 - 4
10-48413759-G-A c.1109C>T p.P370L Missense 2/2 - 4
10-48413762-G-A c.1106C>T p.T369M Missense 2/2 - 5
10-48413762-G-T c.1106C>A p.T369K Missense 2/2 - 1
10-48413766-C-T c.1102G>A p.V368M Missense 2/2 - 1
10-48413769-C-A c.1099G>T p.D367Y Missense 2/2 - 3
10-48413769-C-G c.1099G>C p.D367H Missense 2/2 - 1
10-48413769-C-T c.1099G>A p.D367N Missense 2/2 - 1
10-48413770-G-A c.1098C>T p.D366= Synonymous 2/2 - 2
10-48413770-G-C c.1098C>G p.D366E Missense 2/2 - 2
10-48413770-G-T c.1098C>A p.D366E Missense 2/2 - 2
10-48413779-G-A c.1089C>T p.P363= Synonymous 2/2 - 1
10-48413781-G-A c.1087C>T p.P363S Missense 2/2 - 4
10-48413783-A-T c.1085T>A p.F362Y Missense 2/2 - 1
10-48413785-G-A c.1083C>T p.F361= Synonymous 2/2 - 2
10-48413786-AA-TT c.1081_1082inv p.F361N Missense 2/2 - 1
10-48413787-A-G c.1081T>C p.F361L Missense 2/2 - 1
10-48413792-C-A c.1076G>T p.G359V Missense 2/2 - 1
10-48413793-C-T c.1075G>A p.G359S Missense 2/2 - 1
10-48413794-G-A c.1074C>T p.G358= Synonymous 2/2 - 1
10-48413794-G-C c.1074C>G p.G358= Synonymous 2/2 - 1
10-48413794-G-T c.1074C>A p.G358= Synonymous 2/2 - 1
10-48413805-C-T c.1063G>A p.E355K Missense 2/2 - 1
10-48413814-C-A c.1054G>T p.E352* Nonsense 2/2 - 1
10-48413815-A-T c.1053T>A p.Y351* Nonsense 2/2 - 1
10-48413817-A-G c.1051T>C p.Y351H Missense 2/2 - 2
10-48413820-C-T c.1048G>A p.E350K Missense 2/2 - 3
10-48413821-C-G c.1047G>C p.K349N Missense 2/2 - 3
10-48413828-G-A c.1040C>T p.A347V Missense 2/2 - 4
10-48413828-G-T c.1040C>A p.A347E Missense 2/2 - 1
10-48413836-C-T c.1032G>A p.W344* Nonsense 2/2 - 5
10-48413837-C-T c.1031G>A p.W344* Nonsense 2/2 - 1
10-48413839-G-A c.1029C>T p.S343= Synonymous 2/2 - 1
10-48413840-C-T c.1028G>A p.S343N Missense 2/2 - 2
10-48413843-T-C c.1025A>G p.D342G Missense 2/2 - 2
10-48413845-C-T c.1023G>A p.W341* Nonsense 2/2 - 4
10-48413849-C-T c.1019G>A p.G340D Missense 2/2 - 2
10-48413851-G-A c.1017C>T p.I339= Synonymous 2/2 - 3
10-48413851-G-T c.1017C>A p.I339= Synonymous 2/2 - 1
10-48413852-A-G c.1016T>C p.I339T Missense 2/2 - 1
10-48413854-G-C c.1014C>G p.D338E Missense 2/2 - 1
10-48413854-G-T c.1014C>A p.D338E Missense 2/2 - 1
10-48413859-C-A c.1009G>T p.E337* Nonsense 2/2 - 1
10-48413859-C-T c.1009G>A p.E337K Missense 2/2 - 12
10-48413860-G-A c.1008C>T p.F336= Synonymous 2/2 - 8
10-48413865-T-C c.1003A>G p.N335D Missense 2/2 - 1
10-48413870-C-T c.998G>A p.R333Q Missense 2/2 - 3
10-48413871-G-A c.997C>T p.R333W Missense 2/2 - 10
10-48413872-C-A c.996G>T p.L332= Synonymous 2/2 - 1
10-48413872-C-G c.996G>C p.L332= Synonymous 2/2 - 1
10-48413872-C-T c.996G>A p.L332= Synonymous 2/2 - 1
10-48413874-G-A c.994C>T p.L332= Synonymous 2/2 - 1
10-48413875-G-A c.993C>T p.S331= Synonymous 2/2 - 2
10-48413876-G-A c.992C>T p.S331F Missense 2/2 - 1
10-48413878-G-A c.990C>T p.T330= Synonymous 2/2 - 1
10-48413878-G-C c.990C>G p.T330= Synonymous 2/2 - 1
10-48413878-G-T c.990C>A p.T330= Synonymous 2/2 - 1
10-48413879-G-A c.989C>T p.T330I Missense 2/2 - 4
10-48413879-G-C c.989C>G p.T330S Missense 2/2 - 2
10-48413880-T-A c.988A>T p.T330S Missense 2/2 - 2
10-48413884-T-A c.984A>T p.Q328H Missense 2/2 - 1
10-48413884-T-C c.984A>G p.Q328= Synonymous 2/2 - 1
10-48413884-T-G c.984A>C p.Q328H Missense 2/2 - 1
10-48413888-C-T c.980G>A p.C327Y Missense 2/2 - 1
10-48413889-A-G c.979T>C p.C327R Missense 2/2 - 1
10-48413890-G-C c.978C>G p.H326Q Missense 2/2 - 1
10-48413890-G-T c.978C>A p.H326Q Missense 2/2 - 1
10-48413892-G-A c.976C>T p.H326Y Missense 2/2 - 1
10-48413893-G-A c.975C>T p.S325= Synonymous 2/2 - 1
10-48413894-C-T c.974G>A p.S325N Missense 2/2 - 2
10-48413903-C-T c.965G>A p.G322E Missense 2/2 - 1
10-48413904-C-T c.964G>A p.G322R Missense 2/2 - 1
10-48413906-G-C c.962C>G p.A321G Missense 2/2 - 3
10-48413907-C-A c.961G>T p.A321S Missense 2/2 - 1
10-48413908-G-A c.960C>T p.S320= Synonymous 2/2 - 2
10-48413910-T-A c.958A>T p.S320C Missense 2/2 - 3
10-48413912-C-A c.956G>T p.R319M Missense 2/2 - 1
10-48413914-T-A c.954A>T p.K318N Missense 2/2 - 1
10-48413914-T-G c.954A>C p.K318N Missense 2/2 - 1
10-48413916-T-C c.952A>G p.K318E Missense 2/2 - 1
10-48413918-C-T c.950G>A p.R317Q Missense 2/2 - 9
10-48413919-G-A c.949C>T p.R317W Missense 2/2 - 1
10-48413930-G-C c.938C>G p.T313S Missense 2/2 - 1
10-48413931-T-A c.937A>T p.T313S Missense 2/2 - 2
10-48413932-C-T c.936G>A p.S312= Synonymous 2/2 - 1
10-48413933-G-A c.935C>T p.S312L Missense 2/2 - 3
10-48413952-C-G c.916G>C p.G306R Missense 2/2 - 1
10-48413956-C-A c.912G>T p.T304= Synonymous 2/2 - 4
10-48413956-C-G c.912G>C p.T304= Synonymous 2/2 - 4
10-48413956-C-T c.912G>A p.T304= Synonymous 2/2 - 5
10-48413957-G-A c.911C>T p.T304M Missense 2/2 - 9
10-48413958-T-A c.910A>T p.T304S Missense 2/2 - 1
10-48413959-G-C c.909C>G p.D303E Missense 2/2 - 2
10-48413959-G-T c.909C>A p.D303E Missense 2/2 - 1
10-48413967-C-CA c.900_901insT p.E301* Nonsense 2/2 - 1
10-48413967-C-G c.901G>C p.E301Q Missense 2/2 - 1
10-48413967-C-T c.901G>A p.E301K Missense 2/2 - 5
10-48413968-G-A c.900C>T p.H300= Synonymous 2/2 - 1
10-48413970-G-A c.898C>T p.H300Y Missense 2/2 - 1
10-48413970-G-C c.898C>G p.H300D Missense 2/2 - 5
10-48413972-C-G c.896G>C p.S299T Missense 2/2 - 1
10-48413979-C-T c.889G>A p.E297K Missense 2/2 - 1
10-48413980-A-C c.888T>G p.G296= Synonymous 2/2 - 1
10-48413980-A-G c.888T>C p.G296= Synonymous 2/2 - 1
10-48413980-A-T c.888T>A p.G296= Synonymous 2/2 - 1
10-48413982-C-A c.886G>T p.G296C Missense 2/2 - 3
10-48413982-C-T c.886G>A p.G296S Missense 2/2 - 1
10-48413986-C-T c.882G>A p.E294= Synonymous 2/2 - 1
10-48413997-C-A c.871G>T p.G291C Missense 2/2 - 2
10-48413997-C-G c.871G>C p.G291R Missense 2/2 - 1
10-48413997-C-T c.871G>A p.G291S Missense 2/2 - 3
10-48414000-C-G c.868G>C p.D290H Missense 2/2 - 3
10-48414005-GA-AG c.862_863delinsCT p.S288L Missense 2/2 - 1
10-48414005-G-T c.863C>A p.S288Y Missense 2/2 - 2
10-48414010-C-CT c.857dup p.L287Afs*11 Frameshift 2/2 - 1
10-48414021-C-T c.847G>A p.V283M Missense 2/2 - 6
10-48414022-G-A c.846C>T p.S282= Synonymous 2/2 - 1
10-48414026-T-C c.842A>G p.E281G Missense 2/2 - 1
10-48414027-C-T c.841G>A p.E281K Missense 2/2 - 1
10-48414033-C-A c.835G>T p.E279* Nonsense 2/2 - 2
10-48414037-G-A c.831C>T p.S277= Synonymous 2/2 - 2
10-48414039-T-C c.829A>G p.S277G Missense 2/2 - 1
10-48414040-G-A c.828C>T p.I276= Synonymous 2/2 - 4
10-48414042-T-C c.826A>G p.I276V Missense 2/2 - 1
10-48414043-C-T c.825G>A p.M275I Missense 2/2 - 2
10-48414048-C-T c.820G>A p.E274K Missense 2/2 - 2
10-48414049-C-T c.819G>A p.R273= Synonymous 2/2 - 1
10-48414051-T-G c.817A>C p.R273= Synonymous 2/2 - 1
10-48414047-TC-T c.820del p.E274Rfs*2 Frameshift 2/2 - 1
10-48414050-C-G c.818G>C p.R273T Missense 2/2 - 1
10-48414050-C-T c.818G>A p.R273K Missense 2/2 - 1
10-48414051-T-A c.817A>T p.R273W Missense 2/2 - 1
10-48414057-C-T c.811G>A p.E271K Missense 2/2 - 1
10-48414060-G-T c.808C>A p.L270M Missense 2/2 - 1
10-48414061-C-T c.807G>A p.R269= Synonymous 2/2 - 1
10-48414062-C-T c.806G>A p.R269K Missense 2/2 - 1
10-48414065-G-A c.803C>T p.T268I Missense 2/2 - 3
10-48414071-T-C c.797A>G p.K266R Missense 2/2 - 2
10-48414077-C-T c.791G>A p.G264E Missense 2/2 - 1
10-48414080-C-T c.788G>A p.S263N Missense 2/2 - 1
10-48414092-T-C c.776A>G p.N259S Missense 2/2 - 1
10-48414094-G-A c.774C>T p.S258= Synonymous 2/2 - 1
10-48414094-G-C c.774C>G p.S258= Synonymous 2/2 - 1
10-48414094-G-T c.774C>A p.S258= Synonymous 2/2 - 1
10-48414095-G-A c.773C>T p.S258F Missense 2/2 - 5
10-48414097-G-T c.771C>A p.F257L Missense 2/2 - 1
10-48414100-G-A c.768C>T p.V256= Synonymous 2/2 - 1
10-48414100-G-C c.768C>G p.V256= Synonymous 2/2 - 2
10-48414100-G-T c.768C>A p.V256= Synonymous 2/2 - 1
10-48414105-C-T c.763G>A p.V255I Missense 2/2 - 1
10-48414109-G-T c.759C>A p.F253L Missense 2/2 - 2
10-48414109-G-C c.759C>G p.F253L Missense 2/2 - 1
10-48414111-A-G c.757T>C p.F253L Missense 2/2 - 1
10-48414113-G-A c.755C>T p.P252L Missense 2/2 - 1
10-48414113-G-T c.755C>A p.P252H Missense 2/2 - 1
10-48414114-G-T c.754C>A p.P252T Missense 2/2 - 1
10-48414115-C-A c.753G>T p.L251= Synonymous 2/2 - 1
10-48414115-C-G c.753G>C p.L251= Synonymous 2/2 - 1
10-48414115-C-T c.753G>A p.L251= Synonymous 2/2 - 1
10-48414117-G-A c.751C>T p.L251= Synonymous 2/2 - 1
10-48414122-C-G c.746G>C p.R249T Missense 2/2 - 3
10-48414122-C-T c.746G>A p.R249K Missense 2/2 - 1
10-48414123-T-C c.745A>G p.R249G Missense 2/2 - 3
10-48414128-C-A c.740G>T p.G247V Missense 2/2 - 1
10-48414133-G-A c.735C>T p.P245= Synonymous 2/2 - 1
10-48414135-G-A c.733C>T p.P245S Missense 2/2 - 11
10-48414130-TG-T c.737del p.P246Qfs*27 Frameshift 2/2 - 4
10-48414137-A-T c.731T>A p.V244D Missense 2/2 - 1
10-48414138-C-T c.730G>A p.V244I Missense 2/2 - 2
10-48414148-CAG-AAA c.718_720delinsTTT p.L240F Missense 2/2 - 1
10-48414152-G-A c.716C>T p.T239M Missense 2/2 - 3
10-48414156-C-T c.712G>A p.D238N Missense 2/2 - 6
10-48414157-G-A c.711C>T p.C237= Synonymous 2/2 - 2
10-48414158-C-G c.710G>C p.C237S Missense 2/2 - 1
10-48414161-C-A c.707G>T p.G236V Missense 2/2 - 1
10-48414161-C-T c.707G>A p.G236D Missense 2/2 - 2
10-48414162-C-T c.706G>A p.G236S Missense 2/2 - 5
10-48414166-C-T c.702G>A p.R234= Synonymous 2/2 - 3
10-48414167-C-A c.701G>T p.R234M Missense 2/2 - 2
10-48414170-T-G c.698A>C p.H233P Missense 2/2 - 1
10-48414173-CT-GC c.694_695delinsGC p.S232A Missense 2/2 - 1
10-48414176-T-C c.692A>G p.E231G Missense 2/2 - 1
10-48414182-G-T c.686C>A p.T229N Missense 2/2 - 1
10-48414203-C-T c.665G>A p.S222N Missense 2/2 - 1
10-48414206-T-C c.662A>G p.K221R Missense 2/2 - 2
10-48414207-T-C c.661A>G p.K221E Missense 2/2 - 1
10-48414211-G-A c.657C>T p.S219= Synonymous 2/2 - 2
10-48414211-G-C c.657C>G p.S219= Synonymous 2/2 - 2
10-48414211-G-T c.657C>A p.S219= Synonymous 2/2 - 2
10-48414214-G-A c.654C>T p.D218= Synonymous 2/2 - 2
10-48414216-C-T c.652G>A p.D218N Missense 2/2 - 9
10-48414219-A-C c.649T>G p.S217A Missense 2/2 - 1
10-48414221-C-T c.647G>A p.R216Q Missense 2/2 - 3
10-48414222-G-A c.646C>T p.R216W Missense 2/2 - 5
10-48414223-G-A c.645C>T p.V215= Synonymous 2/2 - 1
10-48414224-A-G c.644T>C p.V215A Missense 2/2 - 3
10-48414224-A-T c.644T>A p.V215D Missense 2/2 - 1
10-48414226-C-T c.642G>A p.W214* Nonsense 2/2 - 2
10-48414227-C-G c.641G>C p.W214S Missense 2/2 - 1
10-48414229-G-A c.639C>T p.R213= Synonymous 2/2 - 1
10-48414229-G-C c.639C>G p.R213= Synonymous 2/2 - 1
10-48414229-G-T c.639C>A p.R213= Synonymous 2/2 - 1
10-48414233-T-G c.635A>C p.K212T Missense 2/2 - 2
10-48414235-C-A c.633G>T p.V211= Synonymous 2/2 - 1
10-48414235-C-G c.633G>C p.V211= Synonymous 2/2 - 1
10-48414235-C-T c.633G>A p.V211= Synonymous 2/2 - 1
10-48414237-C-T c.631G>A p.V211M Missense 2/2 - 3
10-48414240-C-T c.628G>A p.A210T Missense 2/2 - 1
10-48414241-G-A c.627C>T p.S209= Synonymous 2/2 - 1
10-48414241-G-C c.627C>G p.S209R Missense 2/2 - 2
10-48414241-G-T c.627C>A p.S209R Missense 2/2 - 3
10-48414243-T-G c.625A>C p.S209R Missense 2/2 - 2
10-48414243-T-C c.625A>G p.S209G Missense 2/2 - 4
10-48414245-G-A c.623C>T p.S208F Missense 2/2 - 2
10-48414252-C-G c.616G>C p.E206Q Missense 2/2 - 1
10-48414252-C-T c.616G>A p.E206K Missense 2/2 - 2
10-48414253-C-T c.615G>A p.L205= Synonymous 2/2 - 1
10-48414255-A-G c.613T>C p.L205= Synonymous 2/2 - 1
10-48414261-C-G c.607G>C p.E203Q Missense 2/2 - 1
10-48414264-A-T c.604T>A p.W202R Missense 2/2 - 1
10-48414266-C-A c.602G>T p.G201V Missense 2/2 - 1
10-48414266-C-T c.602G>A p.G201D Missense 2/2 - 1
10-48414268-C-T c.600G>A p.E200= Synonymous 2/2 - 1
10-48414270-C-A c.598G>T p.E200* Nonsense 2/2 - 1
10-48414274-C-T c.594G>A p.Q198= Synonymous 2/2 - 2
10-48414275-T-C c.593A>G p.Q198R Missense 2/2 - 1
10-48414276-G-A c.592C>T p.Q198* Nonsense 2/2 - 4
10-48414280-G-C c.588C>G p.D196E Missense 2/2 - 2
10-48414280-G-T c.588C>A p.D196E Missense 2/2 - 2
10-48414282-C-T c.586G>A p.D196N Missense 2/2 - 3
10-48414284-T-C c.584A>G p.Q195R Missense 2/2 - 1
10-48414288-A-T c.580T>A p.S194T Missense 2/2 - 1
10-48414295-G-A c.573C>T p.F191= Synonymous 2/2 - 2
10-48414313-A-C c.555T>G p.A185= Synonymous 2/2 - 1
10-48414313-A-G c.555T>C p.A185= Synonymous 2/2 - 1
10-48414313-A-T c.555T>A p.A185= Synonymous 2/2 - 1
10-48414322-C-A c.546G>T p.W182C Missense 2/2 - 1
10-48414322-C-G c.546G>C p.W182C Missense 2/2 - 1
10-48414323-C-A c.545G>T p.W182L Missense 2/2 - 1
10-48414326-G-A c.542C>T p.A181V Missense 2/2 - 2
10-48414329-T-C c.539A>G p.D180G Missense 2/2 - 2
10-48414331-TG-CA c.536_537inv p.T179M Missense 2/2 - 1
10-48414332-G-A c.536C>T p.T179I Missense 2/2 - 1
10-48414335-C-T c.533G>A p.G178E Missense 2/2 - 5
10-48414336-C-T c.532G>A p.G178R Missense 2/2 - 2
10-48414338-T-C c.530A>G p.D177G Missense 2/2 - 1
10-48414339-C-T c.529G>A p.D177N Missense 2/2 - 1
10-48414343-AAC-CAT c.523_525delinsATG p.V175M Missense 2/2 - 1
10-48414347-T-G c.521A>C p.D174A Missense 2/2 - 2
10-48414348-C-T c.520G>A p.D174N Missense 2/2 - 6
10-48414360-C-T c.508G>A p.V170M Missense 2/2 - 4
10-48414362-C-A c.506G>T p.S169I Missense 2/2 - 4
10-48414362-C-G c.506G>C p.S169T Missense 2/2 - 1
10-48414365-C-T c.503G>A p.G168E Missense 2/2 - 5
10-48414375-C-A c.493G>T p.D165Y Missense 2/2 - 1
10-48414375-C-T c.493G>A p.D165N Missense 2/2 - 3
10-48414384-G-T c.484C>A p.P162T Missense 2/2 - 2
10-48414385-G-A c.483C>T p.D161= Synonymous 2/2 - 1
10-48414387-C-G c.481G>C p.D161H Missense 2/2 - 1
10-48414388-C-T c.480G>A p.V160= Synonymous 2/2 - 1
10-48414390-C-T c.478G>A p.V160M Missense 2/2 - 5
10-48414393-G-A c.475C>T p.H159Y Missense 2/2 - 1
10-48414399-G-T c.469C>A p.Q157K Missense 2/2 - 1
10-48414403-G-C c.465C>G p.S155= Synonymous 2/2 - 1
10-48414404-G-A c.464C>T p.S155F Missense 2/2 - 2
10-48414404-G-T c.464C>A p.S155Y Missense 2/2 - 2
10-48414408-C-T c.460G>A p.V154I Missense 2/2 - 2
10-48414410-T-C c.458A>G p.Y153C Missense 2/2 - 3
10-48414412-G-A c.456C>T p.L152= Synonymous 2/2 - 3
10-48414412-G-C c.456C>G p.L152= Synonymous 2/2 - 1
10-48414412-G-T c.456C>A p.L152= Synonymous 2/2 - 1
10-48414417-G-A c.451C>T p.R151* Nonsense 2/2 - 5
10-48414422-T-G c.446A>C p.E149A Missense 2/2 - 1
10-48414423-C-T c.445G>A p.E149K Missense 2/2 - 2
10-48414427-TCT-ACA c.439_441delinsTGT p.R147C Missense 2/2 - 1
10-48414429-T-C c.439A>G p.R147G Missense 2/2 - 1
10-48414430-G-A c.438C>T p.T146= Synonymous 2/2 - 1
10-48414430-G-C c.438C>G p.T146= Synonymous 2/2 - 1
10-48414430-G-T c.438C>A p.T146= Synonymous 2/2 - 1
10-48414441-C-T c.427G>A p.E143K Missense 2/2 - 2
10-48414446-C-A c.422G>T p.R141M Missense 2/2 - 4
10-48414450-G-A c.418C>T p.P140S Missense 2/2 - 1
10-48414453-T-C c.415A>G p.I139V Missense 2/2 - 1
10-48414455-G-A c.413C>T p.S138F Missense 2/2 - 3
10-48414476-T-C c.392A>G p.H131R Missense 2/2 - 2
10-48414488-G-A c.380C>T p.P127L Missense 2/2 - 1
10-48414490-G-C c.378C>G p.F126L Missense 2/2 - 1
10-48414490-G-T c.378C>A p.F126L Missense 2/2 - 2
10-48414492-A-G c.376T>C p.F126L Missense 2/2 - 1
10-48414498-C-T c.370G>A p.E124K Missense 2/2 - 3
10-48414499-T-G c.369A>C p.T123= Synonymous 2/2 - 1
10-48414502-G-A c.366C>T p.A122= Synonymous 2/2 - 1
10-48414502-G-C c.366C>G p.A122= Synonymous 2/2 - 1
10-48414502-G-T c.366C>A p.A122= Synonymous 2/2 - 1
10-48414511-G-C c.357C>G p.S119= Synonymous 2/2 - 1
10-48414516-T-A c.352A>T p.I118F Missense 2/2 - 4
10-48414521-T-A c.347A>T p.D116V Missense 2/2 - 2
10-48414549-T-A c.347-28A>T - IntronicSNV - 1/1 2
10-48414549-T-C c.347-28A>G - IntronicSNV - 1/1 2
10-48414570-A-G c.347-49T>C - IntronicSNV - 1/1 13
10-48415656-T-A c.346+692A>T - IntronicSNV - 1/1 1
10-48415656-T-C c.346+692A>G - IntronicSNV - 1/1 1
10-48416049-T-C c.346+299A>G - IntronicSNV - 1/1 1
10-48416258-C-T c.346+90G>A - IntronicSNV - 1/1 4
10-48416274-C-T c.346+74G>A - IntronicSNV - 1/1 4
10-48416338-G-A c.346+10C>T - IntronicSNV - 1/1 2
10-48416352-C-T c.342G>A p.M114I Missense 1/2 - 6
10-48416354-T-C c.340A>G p.M114V Missense 1/2 - 1
10-48416356-C-G c.338G>C p.S113T Missense 1/2 - 1
10-48416364-CCG-ACA c.328_330delinsTGT p.R110C Missense 1/2 - 1
10-48416365-C-T c.329G>A p.R110Q Missense 1/2 - 2
10-48416366-CG-C c.328del p.R110Gfs*11 Frameshift 1/2 - 1
10-48416366-G-A c.328C>T p.R110W Missense 1/2 - 7
10-48416367-CAC-AAA c.325_327delinsTTT p.V109F Missense 1/2 - 1
10-48416368-A-G c.326T>C p.V109A Missense 1/2 - 1
10-48416370-A-G c.324T>C p.I108= Synonymous 1/2 - 2
10-48416370-A-T c.324T>A p.I108= Synonymous 1/2 - 1
10-48416373-GTT-TTG c.319_321delinsCAA p.N107Q Missense 1/2 - 2
10-48416374-T-C c.320A>G p.N107S Missense 1/2 - 3
10-48416375-T-C c.319A>G p.N107D Missense 1/2 - 1
10-48416380-G-A c.314C>T p.A105V Missense 1/2 - 1
10-48416380-G-T c.314C>A p.A105E Missense 1/2 - 1
10-48416382-T-A c.312A>T p.P104= Synonymous 1/2 - 1
10-48416382-T-C c.312A>G p.P104= Synonymous 1/2 - 1
10-48416382-T-G c.312A>C p.P104= Synonymous 1/2 - 1
10-48416383-G-A c.311C>T p.P104L Missense 1/2 - 1
10-48416384-G-T c.310C>A p.P104T Missense 1/2 - 1
10-48416385-C-A c.309G>T p.T103= Synonymous 1/2 - 2
10-48416385-C-G c.309G>C p.T103= Synonymous 1/2 - 2
10-48416385-C-T c.309G>A p.T103= Synonymous 1/2 - 2
10-48416386-G-A c.308C>T p.T103M Missense 1/2 - 1
10-48416388-A-T c.306T>A p.T102= Synonymous 1/2 - 1
10-48416389-G-A c.305C>T p.T102I Missense 1/2 - 1
10-48416389-G-C c.305C>G p.T102S Missense 1/2 - 1
10-48416390-T-G c.304A>C p.T102P Missense 1/2 - 1
10-48416392-G-A c.302C>T p.S101L Missense 1/2 - 1
10-48416392-G-C c.302C>G p.S101W Missense 1/2 - 1
10-48416398-T-G c.296A>C p.D99A Missense 1/2 - 1
10-48416399-C-T c.295G>A p.D99N Missense 1/2 - 4
10-48416403-C-A c.291G>T p.T97= Synonymous 1/2 - 2
10-48416403-C-G c.291G>C p.T97= Synonymous 1/2 - 2
10-48416403-C-T c.291G>A p.T97= Synonymous 1/2 - 2
10-48416404-G-A c.290C>T p.T97M Missense 1/2 - 5
10-48416410-C-T c.284G>A p.R95K Missense 1/2 - 6
10-48416412-G-C c.282C>G p.N94K Missense 1/2 - 1
10-48416412-G-T c.282C>A p.N94K Missense 1/2 - 1
10-48416420-G-A c.274C>T p.L92= Synonymous 1/2 - 2
10-48416422-T-C c.272A>G p.D91G Missense 1/2 - 1
10-48416423-C-G c.271G>C p.D91H Missense 1/2 - 1
10-48416427-C-A c.267G>T p.M89I Missense 1/2 - 1
10-48416427-C-G c.267G>C p.M89I Missense 1/2 - 1
10-48416427-C-T c.267G>A p.M89I Missense 1/2 - 1
10-48416429-T-A c.265A>T p.M89L Missense 1/2 - 1
10-48416429-T-C c.265A>G p.M89V Missense 1/2 - 3
10-48416429-T-G c.265A>C p.M89L Missense 1/2 - 1
10-48416430-G-C c.264C>G p.Y88* Nonsense 1/2 - 2
10-48416430-G-T c.264C>A p.Y88* Nonsense 1/2 - 1
10-48416431-T-C c.263A>G p.Y88C Missense 1/2 - 2
10-48416436-C-A c.258G>T p.P86= Synonymous 1/2 - 1
10-48416436-C-G c.258G>C p.P86= Synonymous 1/2 - 1
10-48416436-C-T c.258G>A p.P86= Synonymous 1/2 - 1
10-48416438-G-A c.256C>T p.P86S Missense 1/2 - 1
10-48416439-C-T c.255G>A p.P85= Synonymous 1/2 - 2
10-48416440-G-A c.254C>T p.P85L Missense 1/2 - 7
10-48416440-G-C c.254C>G p.P85R Missense 1/2 - 1
10-48416441-G-T c.253C>A p.P85T Missense 1/2 - 1
10-48416444-C-G c.250G>C p.E84Q Missense 1/2 - 1
10-48416444-C-T c.250G>A p.E84K Missense 1/2 - 4
10-48416448-CCT-ACA c.244_246delinsTGT p.R82C Missense 1/2 - 1
10-48416450-T-C c.244A>G p.R82G Missense 1/2 - 2
10-48416451-G-T c.243C>A p.T81= Synonymous 1/2 - 1
10-48416452-G-A c.242C>T p.T81I Missense 1/2 - 2
10-48416454-T-A c.240A>T p.K80N Missense 1/2 - 5
10-48416454-T-G c.240A>C p.K80N Missense 1/2 - 1
10-48416463-C-A c.231G>T p.S77= Synonymous 1/2 - 1
10-48416463-C-G c.231G>C p.S77= Synonymous 1/2 - 1
10-48416463-C-T c.231G>A p.S77= Synonymous 1/2 - 1
10-48416464-G-A c.230C>T p.S77L Missense 1/2 - 5
10-48416468-G-A c.226C>T p.P76S Missense 1/2 - 4
10-48416469-G-A c.225C>T p.V75= Synonymous 1/2 - 2
10-48416469-G-C c.225C>G p.V75= Synonymous 1/2 - 2
10-48416469-G-T c.225C>A p.V75= Synonymous 1/2 - 1
10-48416473-C-T c.221G>A p.G74E Missense 1/2 - 3
10-48416477-T-C c.217A>G p.S73G Missense 1/2 - 1
10-48416483-T-C c.211A>G p.N71D Missense 1/2 - 3
10-48416487-G-A c.207C>T p.S69= Synonymous 1/2 - 2
10-48416491-C-A c.203G>T p.R68L Missense 1/2 - 6
10-48416491-C-T c.203G>A p.R68H Missense 1/2 - 3
10-48416492-G-A c.202C>T p.R68C Missense 1/2 - 11
10-48416501-C-T c.193G>A p.D65N Missense 1/2 - 1
10-48416502-C-T c.192G>A p.V64= Synonymous 1/2 - 1
10-48416504-C-T c.190G>A p.V64M Missense 1/2 - 1
10-48416506-T-C c.188A>G p.K63R Missense 1/2 - 1
10-48416506-TT-CA c.187_188delinsTG p.K63W Missense 1/2 - 1
10-48416511-G-A c.183C>T p.N61= Synonymous 1/2 - 1
10-48416511-G-C c.183C>G p.N61K Missense 1/2 - 1
10-48416511-G-T c.183C>A p.N61K Missense 1/2 - 1
10-48416516-C-T c.178G>A p.E60K Missense 1/2 - 3
10-48416517-C-A c.177G>T p.L59= Synonymous 1/2 - 1
10-48416517-C-G c.177G>C p.L59= Synonymous 1/2 - 1
10-48416517-C-T c.177G>A p.L59= Synonymous 1/2 - 1
10-48416519-G-A c.175C>T p.L59= Synonymous 1/2 - 1
10-48416520-A-C c.174T>G p.F58L Missense 1/2 - 2
10-48416520-A-T c.174T>A p.F58L Missense 1/2 - 2
10-48416522-A-G c.172T>C p.F58L Missense 1/2 - 4
10-48416530-AG-GC c.163_164delinsGC p.L55A Missense 1/2 - 1
10-48416530-A-T c.164T>A p.L55Q Missense 1/2 - 1
10-48416538-G-C c.156C>G p.T52= Synonymous 1/2 - 2
10-48416540-T-C c.154A>G p.T52A Missense 1/2 - 2
10-48416540-T-G c.154A>C p.T52P Missense 1/2 - 1
10-48416541-G-A c.153C>T p.H51= Synonymous 1/2 - 1
10-48416542-TG-GC c.151_152delinsGC p.H51A Missense 1/2 - 1
10-48416544-C-A c.150G>T p.E50D Missense 1/2 - 1
10-48416546-C-T c.148G>A p.E50K Missense 1/2 - 1
10-48416543-GCTCAGGCAGCCCAC-G c.137_150del p.G46Afs*21 Frameshift 1/2 - 1
10-48416550-C-A c.144G>T p.L48= Synonymous 1/2 - 1
10-48416550-C-G c.144G>C p.L48= Synonymous 1/2 - 1
10-48416550-C-T c.144G>A p.L48= Synonymous 1/2 - 1
10-48416552-G-A c.142C>T p.L48= Synonymous 1/2 - 1
10-48416554-C-G c.140G>C p.G47A Missense 1/2 - 1
10-48416557-C-G c.137G>C p.G46A Missense 1/2 - 1
10-48416560-C-T c.134G>A p.G45E Missense 1/2 - 1
10-48416561-C-T c.133G>A p.G45R Missense 1/2 - 1
10-48416563-G-T c.131C>A p.P44H Missense 1/2 - 1
10-48416569-C-A c.125G>T p.G42V Missense 1/2 - 1
10-48416570-C-T c.124G>A p.G42R Missense 1/2 - 4
10-48416574-T-A c.120A>T p.P40= Synonymous 1/2 - 1
10-48416574-T-C c.120A>G p.P40= Synonymous 1/2 - 1
10-48416574-T-G c.120A>C p.P40= Synonymous 1/2 - 1
10-48416576-G-A c.118C>T p.P40S Missense 1/2 - 2
10-48416584-G-A c.110C>T p.A37V Missense 1/2 - 1
10-48416588-T-C c.106A>G p.N36D Missense 1/2 - 2
10-48416590-CC-TT c.103_104delinsAA p.G35K Missense 1/2 - 1
10-48416590-C-T c.104G>A p.G35E Missense 1/2 - 1
10-48416589-TC-T c.104del p.G35Efs*21 Frameshift 1/2 - 1
10-48416594-C-T c.100G>A p.G34R Missense 1/2 - 1
10-48416595-A-C c.99T>G p.A33= Synonymous 1/2 - 1
10-48416601-CC-GT c.92_93delinsAC p.G31D Missense 1/2 - 1
10-48416603-C-A c.91G>T p.G31W Missense 1/2 - 1
10-48416605-C-T c.89G>A p.R30Q Missense 1/2 - 5
10-48416606-G-A c.88C>T p.R30* Nonsense 1/2 - 2
10-48416610-CC-AA c.83_84delinsTT p.W28F Missense 1/2 - 1
10-48416610-C-G c.84G>C p.W28C Missense 1/2 - 1
10-48416610-C-T c.84G>A p.W28* Nonsense 1/2 - 1
10-48416611-C-T c.83G>A p.W28* Nonsense 1/2 - 1
10-48416612-A-G c.82T>C p.W28R Missense 1/2 - 1
10-48416612-A-T c.82T>A p.W28R Missense 1/2 - 1
10-48416616-C-T c.78G>A p.Q26= Synonymous 1/2 - 2
10-48416617-T-A c.77A>T p.Q26L Missense 1/2 - 1
10-48416617-TG-GT c.76_77delinsAC p.Q26T Missense 1/2 - 1
10-48416618-G-A c.76C>T p.Q26* Nonsense 1/2 - 9
10-48416621-G-A c.73C>T p.L25= Synonymous 1/2 - 1
10-48416620-A-G c.74T>C p.L25P Missense 1/2 - 1
10-48416637-G-A c.57C>T p.S19= Synonymous 1/2 - 1
10-48416637-G-C c.57C>G p.S19= Synonymous 1/2 - 1
10-48416637-G-T c.57C>A p.S19= Synonymous 1/2 - 1
10-48416641-C-A c.53G>T p.G18V Missense 1/2 - 1
10-48416643-AGC-TTA c.49_51delinsTAA p.A17* Nonsense 1/2 - 1
10-48416644-G-C c.50C>G p.A17G Missense 1/2 - 1
10-48416645-C-CAAGAAGGCT c.48_49insAGCCTTCTT p.S14_L16dup InFrameInsertion 1/2 - 1
10-48416646-C-T c.48G>A p.L16= Synonymous 1/2 - 2
10-48416652-G-A c.42C>T p.S14= Synonymous 1/2 - 5
10-48416652-G-C c.42C>G p.S14= Synonymous 1/2 - 2
10-48416652-G-T c.42C>A p.S14= Synonymous 1/2 - 2
10-48416653-G-A c.41C>T p.S14F Missense 1/2 - 1
10-48416653-GA-CC c.40_41delinsGG p.S14G Missense 1/2 - 1
10-48416653-GA-TC c.40_41inv p.S14D Missense 1/2 - 1
10-48416653-G-C c.41C>G p.S14C Missense 1/2 - 1
10-48416654-A-C c.40T>G p.S14A Missense 1/2 - 2
10-48416656-AG-GC c.37_38delinsGC p.L13A Missense 1/2 - 1
10-48416663-G-C c.31C>G p.P11A Missense 1/2 - 1
10-48416667-G-A c.27C>T p.A9= Synonymous 1/2 - 1
10-48416667-G-C c.27C>G p.A9= Synonymous 1/2 - 1
10-48416667-G-T c.27C>A p.A9= Synonymous 1/2 - 1
10-48416686-G-A c.8C>T p.P3L Missense 1/2 - 1