PSG4

PSG4 pregnancy specific beta-1-glycoprotein 4

Annotation transcript: NM_002780.5

679 unique variant annotations were identified in 275 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
19-43696975-A-G c.*549T>C - 3-UTRSNV 6/6 - 1
19-43697229-G-A c.*295C>T - 3-UTRSNV 6/6 - 3
19-43697317-G-C c.*207C>G - 3-UTRSNV 6/6 - 3
19-43697441-A-C c.*83T>G - 3-UTRSNV 6/6 - 1
19-43697534-A-G c.1250T>C p.I417T Missense 6/6 - 6
19-43697536-C-T c.1248G>A p.W416* Nonsense 6/6 - 2
19-43697537-C-G c.1247G>C p.W416S Missense 6/6 - 3
19-43698300-A-T c.1243+192T>A - IntronicSNV - 5/5 1
19-43698364-T-G c.1243+128A>C - IntronicSNV - 5/5 2
19-43698415-GT-G c.1243+76del - IntronicDeletion - 5/5 1
19-43698485-C-T c.1243+7G>A - IntronicSNV - 5/5 1
19-43698494-G-A c.1241C>T p.S414F Missense 5/6 - 1
19-43698494-G-C c.1241C>G p.S414C Missense 5/6 - 2
19-43698496-G-A c.1239C>T p.V413= Synonymous 5/6 - 1
19-43698501-T-C c.1234A>G p.K412E Missense 5/6 - 3
19-43698503-A-C c.1232T>G p.V411G Missense 5/6 - 2
19-43698504-C-A c.1231G>T p.V411F Missense 5/6 - 1
19-43698504-C-T c.1231G>A p.V411I Missense 5/6 - 3
19-43698506-G-A c.1229C>T p.T410I Missense 5/6 - 2
19-43698508-G-A c.1227C>T p.I409= Synonymous 5/6 - 1
19-43698508-G-C c.1227C>G p.I409M Missense 5/6 - 3
19-43698512-G-A c.1223C>T p.S408F Missense 5/6 - 1
19-43698520-G-A c.1215C>T p.S405= Synonymous 5/6 - 1
19-43698525-C-T c.1210G>A p.E404K Missense 5/6 - 8
19-43698526-C-T c.1209G>A p.K403= Synonymous 5/6 - 1
19-43698527-T-A c.1208A>T p.K403M Missense 5/6 - 1
19-43698529-G-A c.1206C>T p.G402= Synonymous 5/6 - 1
19-43698529-G-C c.1206C>G p.G402= Synonymous 5/6 - 1
19-43698529-G-T c.1206C>A p.G402= Synonymous 5/6 - 1
19-43698530-C-T c.1205G>A p.G402D Missense 5/6 - 1
19-43698533-G-C c.1202C>G p.T401S Missense 5/6 - 1
19-43698534-T-A c.1201A>T p.T401S Missense 5/6 - 1
19-43698535-G-A c.1200C>T p.A400= Synonymous 5/6 - 1
19-43698535-G-C c.1200C>G p.A400= Synonymous 5/6 - 1
19-43698535-G-T c.1200C>A p.A400= Synonymous 5/6 - 1
19-43698537-C-T c.1198G>A p.A400T Missense 5/6 - 1
19-43698537-GC-G c.1198del p.A400Pfs*24 Frameshift 5/6 - 1
19-43698539-G-T c.1196C>A p.S399* Nonsense 5/6 - 1
19-43698543-T-C c.1192A>G p.N398D Missense 5/6 - 1
19-43698545-C-T c.1190G>A p.R397H Missense 5/6 - 2
19-43698546-G-A c.1189C>T p.R397C Missense 5/6 - 7
19-43698548-A-C c.1187T>G p.V396G Missense 5/6 - 1
19-43698551-G-T c.1184C>A p.S395Y Missense 5/6 - 1
19-43698553-G-A c.1182C>T p.C394= Synonymous 5/6 - 1
19-43698557-G-C c.1178C>G p.A393G Missense 5/6 - 2
19-43698557-G-T c.1178C>A p.A393D Missense 5/6 - 4
19-43698560-T-C c.1175A>G p.Y392C Missense 5/6 - 1
19-43698561-A-G c.1174T>C p.Y392H Missense 5/6 - 1
19-43698565-C-A c.1170G>T p.G390= Synonymous 5/6 - 1
19-43698565-C-G c.1170G>C p.G390= Synonymous 5/6 - 1
19-43698565-C-T c.1170G>A p.G390= Synonymous 5/6 - 3
19-43698568-A-C c.1167T>G p.S389R Missense 5/6 - 3
19-43698568-A-T c.1167T>A p.S389R Missense 5/6 - 2
19-43698570-T-G c.1165A>C p.S389R Missense 5/6 - 2
19-43698573-G-A c.1162C>T p.H388Y Missense 5/6 - 1
19-43698574-C-A c.1161G>T p.K387N Missense 5/6 - 1
19-43698574-C-G c.1161G>C p.K387N Missense 5/6 - 1
19-43698574-C-T c.1161G>A p.K387= Synonymous 5/6 - 1
19-43698581-G-T c.1154C>A p.T385N Missense 5/6 - 1
19-43698584-A-G c.1151T>C p.I384T Missense 5/6 - 1
19-43698590-G-T c.1145C>A p.P382H Missense 5/6 - 1
19-43698591-G-A c.1144C>T p.P382S Missense 5/6 - 1
19-43698596-G-A c.1139C>T p.S380F Missense 5/6 - 2
19-43698596-GA-CG c.1138_1139delinsCG p.S380R Missense 5/6 - 1
19-43698596-G-C c.1139C>G p.S380C Missense 5/6 - 5
19-43698600-G-T c.1135C>A p.L379I Missense 5/6 - 1
19-43698601-C-T c.1134G>A p.K378= Synonymous 5/6 - 1
19-43698609-C-G c.1126G>C p.G376R Missense 5/6 - 3
19-43698609-C-T c.1126G>A p.G376R Missense 5/6 - 5
19-43698611-G-C c.1124C>G p.S375* Nonsense 5/6 - 3
19-43698611-G-T c.1124C>A p.S375* Nonsense 5/6 - 1
19-43698612-A-G c.1123T>C p.S375P Missense 5/6 - 2
19-43698617-T-G c.1118A>C p.Q373P Missense 5/6 - 1
19-43698619-A-C c.1116T>G p.F372L Missense 5/6 - 5
19-43698619-A-T c.1116T>A p.F372L Missense 5/6 - 3
19-43698621-A-G c.1114T>C p.F372L Missense 5/6 - 3
19-43698625-C-T c.1110G>A p.G370= Synonymous 5/6 - 5
19-43698626-CC-TT c.1108_1109delinsAA p.G370K Missense 5/6 - 2
19-43698626-C-T c.1109G>A p.G370E Missense 5/6 - 1
19-43698637-C-A c.1098G>T p.W366C Missense 5/6 - 2
19-43698637-C-G c.1098G>C p.W366C Missense 5/6 - 1
19-43698637-C-T c.1098G>A p.W366* Nonsense 5/6 - 1
19-43698638-C-T c.1097G>A p.W366* Nonsense 5/6 - 1
19-43698643-A-C c.1092T>G p.Y364* Nonsense 5/6 - 2
19-43698643-A-T c.1092T>A p.Y364* Nonsense 5/6 - 2
19-43698645-A-G c.1090T>C p.Y364H Missense 5/6 - 3
19-43698648-G-T c.1087C>A p.Q363K Missense 5/6 - 1
19-43698650-G-T c.1085C>A p.A362E Missense 5/6 - 3
19-43698653-C-A c.1082G>T p.R361L Missense 5/6 - 3
19-43698653-C-G c.1082G>C p.R361P Missense 5/6 - 1
19-43698653-C-T c.1082G>A p.R361Q Missense 5/6 - 1
19-43698654-G-A c.1081C>T p.R361W Missense 5/6 - 6
19-43698656-G-A c.1079C>T p.P360L Missense 5/6 - 2
19-43698657-G-A c.1078C>T p.P360S Missense 5/6 - 1
19-43698658-G-A c.1077C>T p.N359= Synonymous 5/6 - 1
19-43698662-G-A c.1073C>T p.S358F Missense 5/6 - 3
19-43698664-C-T c.1071G>A p.E357= Synonymous 5/6 - 1
19-43698666-C-T c.1069G>A p.E357K Missense 5/6 - 4
19-43698667-G-A c.1068C>T p.A356= Synonymous 5/6 - 1
19-43698667-G-C c.1068C>G p.A356= Synonymous 5/6 - 2
19-43698669-C-T c.1066G>A p.A356T Missense 5/6 - 1
19-43698670-G-A c.1065C>T p.F355= Synonymous 5/6 - 6
19-43698676-G-A c.1059C>T p.S353= Synonymous 5/6 - 2
19-43698677-GA-AG c.1057_1058delinsCT p.S353L Missense 5/6 - 1
19-43698682-G-C c.1053C>G p.Y351* Nonsense 5/6 - 1
19-43698682-G-T c.1053C>A p.Y351* Nonsense 5/6 - 1
19-43698695-C-G c.1040G>C p.G347A Missense 5/6 - 2
19-43698695-C-T c.1040G>A p.G347E Missense 5/6 - 3
19-43698696-C-G c.1039G>C p.G347R Missense 5/6 - 2
19-43698696-C-T c.1039G>A p.G347R Missense 5/6 - 4
19-43698698-G-A c.1037C>T p.S346L Missense 5/6 - 1
19-43698701-C-T c.1034G>A p.R345H Missense 5/6 - 7
19-43698702-G-A c.1033C>T p.R345C Missense 5/6 - 3
19-43698703-G-A c.1032C>T p.Y344= Synonymous 5/6 - 1
19-43698706-A-G c.1029T>C p.Y343= Synonymous 5/6 - 1
19-43698709-G-A c.1026C>T p.T342= Synonymous 5/6 - 1
19-43698709-G-C c.1026C>G p.T342= Synonymous 5/6 - 3
19-43698709-G-T c.1026C>A p.T342= Synonymous 5/6 - 1
19-43698716-G-A c.1019C>T p.S340L Missense 5/6 - 6
19-43698717-A-G c.1018T>C p.S340P Missense 5/6 - 1
19-43698718-A-C c.1017T>G p.P339= Synonymous 5/6 - 1
19-43698719-G-A c.1016C>T p.P339L Missense 5/6 - 1
19-43698724-A-C c.1011T>G p.I337M Missense 5/6 - 1
19-43698727-G-C c.1008C>G p.S336R Missense 5/6 - 1
19-43698727-G-T c.1008C>A p.S336R Missense 5/6 - 1
19-43698729-T-G c.1006A>C p.S336R Missense 5/6 - 1
19-43698728-C-A c.1007G>T p.S336I Missense 5/6 - 1
19-43698733-G-A c.1002C>T p.L334= Synonymous 5/6 - 1
19-43698735-G-A c.1000C>T p.L334F Missense 5/6 - 1
19-43698741-G-A c.994C>T p.P332S Missense 5/6 - 3
19-43698744-C-A c.991G>T p.G331C Missense 5/6 - 1
19-43698759-G-A c.989-13C>T - IntronicSNV - 4/5 1
19-43698974-T-C c.988+173A>G - IntronicSNV - 4/5 1
19-43699148-G-A c.987C>T p.L329= Synonymous 4/6 - 3
19-43699148-G-C c.987C>G p.L329= Synonymous 4/6 - 2
19-43699148-G-T c.987C>A p.L329= Synonymous 4/6 - 2
19-43699157-C-T c.978G>A p.L326= Synonymous 4/6 - 1
19-43699159-G-A c.976C>T p.L326= Synonymous 4/6 - 1
19-43699161-G-A c.974C>T p.T325I Missense 4/6 - 1
19-43699165-C-T c.970G>A p.V324I Missense 4/6 - 1
19-43699169-G-A c.966C>T p.D322= Synonymous 4/6 - 2
19-43699171-C-T c.964G>A p.D322N Missense 4/6 - 6
19-43699174-T-A c.961A>T p.S321C Missense 4/6 - 1
19-43699175-GCG-TCA c.958_960delinsTGA p.R320* Nonsense 4/6 - 1
19-43699175-G-T c.960C>A p.R320= Synonymous 4/6 - 1
19-43699176-C-T c.959G>A p.R320H Missense 4/6 - 3
19-43699177-G-A c.958C>T p.R320C Missense 4/6 - 3
19-43699178-G-C c.957C>G p.I319M Missense 4/6 - 1
19-43699177-GGAT-G c.955_957del p.I319del InFrameDeletion 4/6 - 1
19-43699182-C-T c.953G>A p.G318D Missense 4/6 - 3
19-43699189-A-C c.946T>G p.Y316D Missense 4/6 - 1
19-43699191-C-A c.944G>T p.R315L Missense 4/6 - 1
19-43699191-C-T c.944G>A p.R315Q Missense 4/6 - 7
19-43699192-G-A c.943C>T p.R315* Nonsense 4/6 - 3
19-43699193-G-C c.942C>G p.D314E Missense 4/6 - 1
19-43699197-C-T c.938G>A p.R313Q Missense 4/6 - 3
19-43699198-G-A c.937C>T p.R313W Missense 4/6 - 1
19-43699202-T-C c.933A>G p.E311= Synonymous 4/6 - 1
19-43699204-C-A c.931G>T p.E311* Nonsense 4/6 - 4
19-43699204-C-T c.931G>A p.E311K Missense 4/6 - 1
19-43699210-G-A c.925C>T p.Q309* Nonsense 4/6 - 1
19-43699210-G-C c.925C>G p.Q309E Missense 4/6 - 1
19-43699210-G-T c.925C>A p.Q309K Missense 4/6 - 2
19-43699214-A-C c.921T>G p.P307= Synonymous 4/6 - 1
19-43699214-A-G c.921T>C p.P307= Synonymous 4/6 - 3
19-43699214-A-T c.921T>A p.P307= Synonymous 4/6 - 1
19-43699218-C-A c.917G>T p.G306V Missense 4/6 - 1
19-43699218-C-T c.917G>A p.G306E Missense 4/6 - 2
19-43699219-C-G c.916G>C p.G306R Missense 4/6 - 2
19-43699219-C-T c.916G>A p.G306R Missense 4/6 - 6
19-43699220-T-A c.915A>T p.T305= Synonymous 4/6 - 2
19-43699220-T-C c.915A>G p.T305= Synonymous 4/6 - 2
19-43699220-T-G c.915A>C p.T305= Synonymous 4/6 - 2
19-43699225-C-T c.910G>A p.E304K Missense 4/6 - 7
19-43699230-C-T c.905G>A p.R302K Missense 4/6 - 5
19-43699232-C-A c.903G>T p.T301= Synonymous 4/6 - 1
19-43699232-C-G c.903G>C p.T301= Synonymous 4/6 - 1
19-43699232-C-T c.903G>A p.T301= Synonymous 4/6 - 4
19-43699233-G-A c.902C>T p.T301M Missense 4/6 - 1
19-43699234-T-C c.901A>G p.T301A Missense 4/6 - 1
19-43699235-G-A c.900C>T p.V300= Synonymous 4/6 - 1
19-43699235-G-C c.900C>G p.V300= Synonymous 4/6 - 1
19-43699235-G-T c.900C>A p.V300= Synonymous 4/6 - 1
19-43699237-C-A c.898G>T p.V300F Missense 4/6 - 1
19-43699239-T-C c.896A>G p.N299S Missense 4/6 - 2
19-43699242-G-A c.893C>T p.P298L Missense 4/6 - 2
19-43699242-G-C c.893C>G p.P298R Missense 4/6 - 1
19-43699252-G-A c.883C>T p.L295F Missense 4/6 - 2
19-43699252-G-C c.883C>G p.L295V Missense 4/6 - 1
19-43699253-G-A c.882C>T p.I294= Synonymous 4/6 - 1
19-43699256-C-T c.879G>A p.R293= Synonymous 4/6 - 1
19-43699258-T-G c.877A>C p.R293= Synonymous 4/6 - 1
19-43699262-T-A c.873A>T p.E291D Missense 4/6 - 1
19-43699263-T-C c.872A>G p.E291G Missense 4/6 - 1
19-43699264-C-T c.871G>A p.E291K Missense 4/6 - 3
19-43699268-G-A c.867C>T p.P289= Synonymous 4/6 - 3
19-43699268-G-C c.867C>G p.P289= Synonymous 4/6 - 2
19-43699268-G-T c.867C>A p.P289= Synonymous 4/6 - 2
19-43699269-G-A c.866C>T p.P289L Missense 4/6 - 1
19-43699269-G-T c.866C>A p.P289H Missense 4/6 - 1
19-43699270-G-C c.865C>G p.P289A Missense 4/6 - 3
19-43699272-C-T c.863G>A p.R288Q Missense 4/6 - 5
19-43699272-TC-T c.863del p.R288Hfs*39 Frameshift 4/6 - 1
19-43699271-T-A c.864A>T p.R288= Synonymous 4/6 - 1
19-43699271-T-C c.864A>G p.R288= Synonymous 4/6 - 1
19-43699271-T-G c.864A>C p.R288= Synonymous 4/6 - 1
19-43699273-G-A c.862C>T p.R288* Nonsense 4/6 - 1
19-43699273-G-T c.862C>A p.R288= Synonymous 4/6 - 1
19-43699278-A-G c.857T>C p.V286A Missense 4/6 - 2
19-43699279-C-T c.856G>A p.V286I Missense 4/6 - 6
19-43699282-T-A c.853A>T p.R285W Missense 4/6 - 2
19-43699284-G-A c.851C>T p.P284L Missense 4/6 - 6
19-43699285-G-A c.850C>T p.P284S Missense 4/6 - 7
19-43699288-T-G c.847A>C p.S283R Missense 4/6 - 2
19-43699292-A-C c.843T>G p.P281= Synonymous 4/6 - 3
19-43699292-A-G c.843T>C p.P281= Synonymous 4/6 - 3
19-43699292-AG-TT c.842_843delinsAA p.P281Q Missense 4/6 - 2
19-43699292-A-T c.843T>A p.P281= Synonymous 4/6 - 3
19-43699293-G-A c.842C>T p.P281L Missense 4/6 - 2
19-43699294-G-A c.841C>T p.P281S Missense 4/6 - 5
19-43699295-G-A c.840C>T p.L280= Synonymous 4/6 - 2
19-43699295-G-C c.840C>G p.L280= Synonymous 4/6 - 1
19-43699295-G-T c.840C>A p.L280= Synonymous 4/6 - 1
19-43699297-G-T c.838C>A p.L280I Missense 4/6 - 1
19-43699298-G-C c.837C>G p.S279R Missense 4/6 - 3
19-43699298-G-T c.837C>A p.S279R Missense 4/6 - 2
19-43699300-T-G c.835A>C p.S279R Missense 4/6 - 2
19-43699304-A-C c.831T>G p.G277= Synonymous 4/6 - 2
19-43699304-A-G c.831T>C p.G277= Synonymous 4/6 - 2
19-43699304-A-T c.831T>A p.G277= Synonymous 4/6 - 2
19-43699306-C-A c.829G>T p.G277C Missense 4/6 - 1
19-43699306-C-T c.829G>A p.G277S Missense 4/6 - 7
19-43699308-T-C c.827A>G p.N276S Missense 4/6 - 2
19-43699309-T-G c.826A>C p.N276H Missense 4/6 - 2
19-43699312-G-A c.823C>T p.L275= Synonymous 4/6 - 1
19-43699314-C-T c.821G>A p.W274* Nonsense 4/6 - 1
19-43699316-C-A c.819G>T p.W273C Missense 4/6 - 1
19-43699316-C-G c.819G>C p.W273C Missense 4/6 - 1
19-43699317-C-A c.818G>T p.W273L Missense 4/6 - 4
19-43699320-A-G c.815T>C p.I272T Missense 4/6 - 1
19-43699322-G-T c.813C>A p.Y271* Nonsense 4/6 - 1
19-43699323-T-C c.812A>G p.Y271C Missense 4/6 - 1
19-43699324-A-G c.811T>C p.Y271H Missense 4/6 - 1
19-43699326-G-A c.809C>T p.T270I Missense 4/6 - 1
19-43699331-G-A c.804C>T p.N268= Synonymous 4/6 - 2
19-43699334-C-A c.801G>T p.K267N Missense 4/6 - 2
19-43699334-C-G c.801G>C p.K267N Missense 4/6 - 2
19-43699334-C-T c.801G>A p.K267= Synonymous 4/6 - 4
19-43699336-T-C c.799A>G p.K267E Missense 4/6 - 22
19-43699346-T-C c.789A>G p.E263= Synonymous 4/6 - 1
19-43699348-C-T c.787G>A p.E263K Missense 4/6 - 13
19-43699349-A-C c.786T>G p.C262W Missense 4/6 - 3
19-43699359-G-A c.776C>T p.T259I Missense 4/6 - 1
19-43699360-T-G c.775A>C p.T259P Missense 4/6 - 1
19-43699362-A-C c.773T>G p.L258* Nonsense 4/6 - 1
19-43699369-C-T c.766G>A p.D256N Missense 4/6 - 2
19-43699370-C-T c.765G>A p.K255= Synonymous 4/6 - 1
19-43699374-T-C c.761A>G p.N254S Missense 4/6 - 1
19-43699376-C-T c.759G>A p.E253= Synonymous 4/6 - 3
19-43699378-C-A c.757G>T p.E253* Nonsense 4/6 - 1
19-43699378-C-G c.757G>C p.E253Q Missense 4/6 - 9
19-43699378-C-T c.757G>A p.E253K Missense 4/6 - 2
19-43699379-T-C c.756A>G p.R252= Synonymous 4/6 - 5
19-43699379-TCT-ACA c.754_756delinsTGT p.R252C Missense 4/6 - 1
19-43699379-TCT-ATG c.754_756delinsCAT p.R252H Missense 4/6 - 2
19-43699381-T-G c.754A>C p.R252= Synonymous 4/6 - 2
19-43699380-C-T c.755G>A p.R252K Missense 4/6 - 1
19-43699384-G-A c.751C>T p.P251S Missense 4/6 - 3
19-43699381-TG-T c.753del p.R252Efs*7 Frameshift 4/6 - 1
19-43699389-A-C c.746T>G p.L249* Nonsense 4/6 - 1
19-43699390-A-C c.745T>G p.L249V Missense 4/6 - 5
19-43699390-A-G c.745T>C p.L249= Synonymous 4/6 - 1
19-43699400-T-A c.735A>T p.T245= Synonymous 4/6 - 1
19-43699400-T-C c.735A>G p.T245= Synonymous 4/6 - 1
19-43699400-T-G c.735A>C p.T245= Synonymous 4/6 - 1
19-43699411-G-T c.724C>A p.P242T Missense 4/6 - 1
19-43699413-T-A c.722A>T p.K241M Missense 4/6 - 3
19-43699415-G-A c.720C>T p.S240= Synonymous 4/6 - 2
19-43699415-G-C c.720C>G p.S240= Synonymous 4/6 - 2
19-43699415-G-T c.720C>A p.S240= Synonymous 4/6 - 2
19-43699417-A-G c.718T>C p.S240P Missense 4/6 - 21
19-43699417-A-T c.718T>A p.S240T Missense 4/6 - 4
19-43699424-T-A c.711A>T p.P237= Synonymous 4/6 - 1
19-43699424-T-C c.711A>G p.P237= Synonymous 4/6 - 1
19-43699424-T-G c.711A>C p.P237= Synonymous 4/6 - 1
19-43699425-G-A c.710C>T p.P237L Missense 4/6 - 2
19-43700921-C-T c.709+1228G>A - IntronicSNV - 3/5 1
19-43700954-C-G c.709+1195G>C - IntronicSNV - 3/5 1
19-43700978-G-T c.709+1171C>A - IntronicSNV - 3/5 1
19-43701901-C-A c.709+248G>T - IntronicSNV - 3/5 1
19-43702089-C-T c.709+60G>A - IntronicSNV - 3/5 1
19-43702098-A-AT c.709+50dup - IntronicInsertion - 3/5 2
19-43702121-G-A c.709+28C>T - IntronicSNV - 3/5 1
19-43702123-C-A c.709+26G>T - IntronicSNV - 3/5 1
19-43702146-C-T c.709+3G>A - IntronicSNV - 3/5 1
19-43702148-C-G c.709+1G>C - IntronicSNV - 3/5 2
19-43702149-G-T c.709C>A p.P237T Missense 3/6 - 1
19-43702150-G-A c.708C>T p.L236= Synonymous 3/6 - 5
19-43702152-G-A c.706C>T p.L236F Missense 3/6 - 1
19-43702152-G-T c.706C>A p.L236I Missense 3/6 - 1
19-43702153-G-A c.705C>T p.L235= Synonymous 3/6 - 1
19-43702160-A-G c.698T>C p.L233P Missense 3/6 - 1
19-43702167-C-T c.691G>A p.V231I Missense 3/6 - 1
19-43702173-C-T c.685G>A p.D229N Missense 3/6 - 1
19-43702175-C-A c.683G>T p.S228I Missense 3/6 - 6
19-43702178-C-T c.680G>A p.R227H Missense 3/6 - 1
19-43702179-G-A c.679C>T p.R227C Missense 3/6 - 4
19-43702179-G-C c.679C>G p.R227G Missense 3/6 - 1
19-43702180-G-A c.678C>T p.S226= Synonymous 3/6 - 4
19-43702184-G-A c.674C>T p.A225V Missense 3/6 - 4
19-43702184-G-C c.674C>G p.A225G Missense 3/6 - 1
19-43702185-C-T c.673G>A p.A225T Missense 3/6 - 1
19-43702187-C-A c.671G>T p.S224I Missense 3/6 - 1
19-43702187-C-T c.671G>A p.S224N Missense 3/6 - 4
19-43702194-G-T c.664C>A p.P222T Missense 3/6 - 1
19-43702195-G-C c.663C>G p.N221K Missense 3/6 - 1
19-43702195-G-T c.663C>A p.N221K Missense 3/6 - 1
19-43702198-CCG-ACA c.658_660delinsTGT p.R220C Missense 3/6 - 1
19-43702198-C-T c.660G>A p.R220= Synonymous 3/6 - 3
19-43702199-C-A c.659G>T p.R220L Missense 3/6 - 1
19-43702200-G-A c.658C>T p.R220W Missense 3/6 - 1
19-43702201-T-A c.657A>T p.I219= Synonymous 3/6 - 1
19-43702201-T-G c.657A>C p.I219= Synonymous 3/6 - 1
19-43702206-C-T c.652G>A p.E218K Missense 3/6 - 7
19-43702208-C-A c.650G>T p.C217F Missense 3/6 - 2
19-43702212-C-A c.646G>T p.E216* Nonsense 3/6 - 1
19-43702212-C-T c.646G>A p.E216K Missense 3/6 - 2
19-43702216-G-A c.642C>T p.P214= Synonymous 3/6 - 3
19-43702216-G-C c.642C>G p.P214= Synonymous 3/6 - 2
19-43702216-G-T c.642C>A p.P214= Synonymous 3/6 - 2
19-43702218-G-T c.640C>A p.P214T Missense 3/6 - 1
19-43702221-C-G c.637G>C p.G213R Missense 3/6 - 3
19-43702221-C-T c.637G>A p.G213R Missense 3/6 - 6
19-43702226-A-G c.632T>C p.I211T Missense 3/6 - 2
19-43702229-T-C c.629A>G p.Y210C Missense 3/6 - 1
19-43702230-A-G c.628T>C p.Y210H Missense 3/6 - 1
19-43702252-G-A c.606C>T p.L202= Synonymous 3/6 - 2
19-43702254-G-A c.604C>T p.L202F Missense 3/6 - 1
19-43702265-G-A c.593C>T p.T198I Missense 3/6 - 1
19-43702266-T-C c.592A>G p.T198A Missense 3/6 - 1
19-43702275-G-T c.583C>A p.L195M Missense 3/6 - 1
19-43702280-A-G c.578T>C p.L193S Missense 3/6 - 1
19-43702283-C-A c.575G>T p.R192M Missense 3/6 - 2
19-43702291-C-A c.567G>T p.M189I Missense 3/6 - 1
19-43702296-G-A c.562C>T p.P188S Missense 3/6 - 2
19-43702297-G-A c.561C>T p.L187= Synonymous 3/6 - 2
19-43702300-G-C c.558C>G p.S186R Missense 3/6 - 2
19-43702300-G-T c.558C>A p.S186R Missense 3/6 - 2
19-43702302-T-G c.556A>C p.S186R Missense 3/6 - 2
19-43702301-C-G c.557G>C p.S186T Missense 3/6 - 1
19-43702308-C-G c.550G>C p.G184R Missense 3/6 - 1
19-43702308-C-T c.550G>A p.G184S Missense 3/6 - 4
19-43702312-C-A c.546G>T p.M182I Missense 3/6 - 2
19-43702312-C-G c.546G>C p.M182I Missense 3/6 - 2
19-43702312-C-T c.546G>A p.M182I Missense 3/6 - 6
19-43702315-C-T c.543G>A p.W181* Nonsense 3/6 - 2
19-43702319-C-A c.539G>T p.W180L Missense 3/6 - 1
19-43702322-T-A c.536A>T p.Q179L Missense 3/6 - 2
19-43702323-G-A c.535C>T p.Q179* Nonsense 3/6 - 1
19-43702322-TG-T c.535del p.Q179Sfs*4 Frameshift 3/6 - 1
19-43702324-G-C c.534C>G p.Y178* Nonsense 3/6 - 1
19-43702324-G-T c.534C>A p.Y178* Nonsense 3/6 - 1
19-43702327-G-A c.531C>T p.S177= Synonymous 3/6 - 1
19-43702327-G-C c.531C>G p.S177R Missense 3/6 - 2
19-43702332-C-T c.526G>A p.A176T Missense 3/6 - 4
19-43702333-G-A c.525C>T p.A175= Synonymous 3/6 - 1
19-43702333-G-C c.525C>G p.A175= Synonymous 3/6 - 1
19-43702333-G-T c.525C>A p.A175= Synonymous 3/6 - 2
19-43702334-G-A c.524C>T p.A175V Missense 3/6 - 1
19-43702335-C-G c.523G>C p.A175P Missense 3/6 - 6
19-43702339-A-C c.519T>G p.T173= Synonymous 3/6 - 1
19-43702339-A-G c.519T>C p.T173= Synonymous 3/6 - 1
19-43702339-A-T c.519T>A p.T173= Synonymous 3/6 - 1
19-43702342-C-A c.516G>T p.A172= Synonymous 3/6 - 5
19-43702342-C-G c.516G>C p.A172= Synonymous 3/6 - 6
19-43702342-C-T c.516G>A p.A172= Synonymous 3/6 - 7
19-43702343-G-A c.515C>T p.A172V Missense 3/6 - 1
19-43702347-G-A c.511C>T p.P171S Missense 3/6 - 1
19-43702347-G-T c.511C>A p.P171T Missense 3/6 - 1
19-43702348-A-G c.510T>C p.D170= Synonymous 3/6 - 1
19-43702349-T-G c.509A>C p.D170A Missense 3/6 - 1
19-43702350-C-T c.508G>A p.D170N Missense 3/6 - 5
19-43702354-G-A c.504C>T p.T168= Synonymous 3/6 - 1
19-43702354-G-C c.504C>G p.T168= Synonymous 3/6 - 1
19-43702354-G-T c.504C>A p.T168= Synonymous 3/6 - 1
19-43702355-G-C c.503C>G p.T168S Missense 3/6 - 1
19-43702356-T-A c.502A>T p.T168S Missense 3/6 - 1
19-43702358-A-G c.500T>C p.L167S Missense 3/6 - 4
19-43702363-C-A c.495G>T p.V165= Synonymous 3/6 - 3
19-43702363-C-G c.495G>C p.V165= Synonymous 3/6 - 2
19-43702363-C-T c.495G>A p.V165= Synonymous 3/6 - 5
19-43702369-C-A c.489G>T p.E163D Missense 3/6 - 3
19-43702369-C-G c.489G>C p.E163D Missense 3/6 - 1
19-43702371-C-T c.487G>A p.E163K Missense 3/6 - 1
19-43702373-A-G c.485T>C p.M162T Missense 3/6 - 3
19-43702375-G-A c.483C>T p.A161= Synonymous 3/6 - 2
19-43702375-G-C c.483C>G p.A161= Synonymous 3/6 - 2
19-43702375-G-T c.483C>A p.A161= Synonymous 3/6 - 2
19-43702376-G-A c.482C>T p.A161V Missense 3/6 - 2
19-43702378-C-A c.480G>T p.E160D Missense 3/6 - 1
19-43702380-C-G c.478G>C p.E160Q Missense 3/6 - 2
19-43702380-C-T c.478G>A p.E160K Missense 3/6 - 1
19-43702381-C-T c.477G>A p.R159= Synonymous 3/6 - 3
19-43702383-T-G c.475A>C p.R159= Synonymous 3/6 - 1
19-43702382-C-T c.476G>A p.R159K Missense 3/6 - 1
19-43702382-CT-TG c.475_476delinsCA p.R159Q Missense 3/6 - 1
19-43702385-G-A c.473C>T p.P158L Missense 3/6 - 3
19-43702387-A-G c.471T>C p.N157= Synonymous 3/6 - 2
19-43702392-A-C c.466T>G p.L156V Missense 3/6 - 1
19-43702394-T-C c.464A>G p.N155S Missense 3/6 - 1
19-43702399-G-C c.459C>G p.S153R Missense 3/6 - 2
19-43702401-T-A c.457A>T p.S153C Missense 3/6 - 1
19-43702403-G-A c.455C>T p.S152F Missense 3/6 - 5
19-43702409-G-C c.449C>G p.S150C Missense 3/6 - 1
19-43702409-G-T c.449C>A p.S150Y Missense 3/6 - 1
19-43702411-G-A c.447C>T p.P149= Synonymous 3/6 - 3
19-43702417-G-A c.441C>T p.P147= Synonymous 3/6 - 2
19-43702417-G-C c.441C>G p.P147= Synonymous 3/6 - 2
19-43702417-G-T c.441C>A p.P147= Synonymous 3/6 - 2
19-43702420-A-T c.438T>A p.T146= Synonymous 3/6 - 1
19-43702421-G-C c.437C>G p.T146S Missense 3/6 - 5
19-43702421-G-T c.437C>A p.T146N Missense 3/6 - 2
19-43702422-T-A c.436A>T p.T146S Missense 3/6 - 4
19-43702423-C-T c.435G>A p.E145= Synonymous 3/6 - 2
19-43704360-G-A c.431-1933C>T - IntronicSNV - 2/5 1
19-43704360-G-C c.431-1933C>G - IntronicSNV - 2/5 1
19-43706457-A-G c.430+1581T>C - IntronicSNV - 2/5 1
19-43707917-C-T c.430+121G>A - IntronicSNV - 2/5 1
19-43708031-C-T c.430+7G>A - IntronicSNV - 2/5 1
19-43708037-C-A c.430+1G>T - IntronicSNV - 2/5 1
19-43708037-C-T c.430+1G>A - IntronicSNV - 2/5 2
19-43708038-G-A c.430C>T p.L144= Synonymous 2/6 - 2
19-43708039-G-C c.429C>G p.H143Q Missense 2/6 - 3
19-43708039-G-T c.429C>A p.H143Q Missense 2/6 - 5
19-43708046-G-A c.422C>T p.T141I Missense 2/6 - 1
19-43708046-G-T c.422C>A p.T141N Missense 2/6 - 1
19-43708048-G-A c.420C>T p.F140= Synonymous 2/6 - 1
19-43708051-G-A c.417C>T p.T139= Synonymous 2/6 - 2
19-43708053-T-G c.415A>C p.T139P Missense 2/6 - 1
19-43708054-G-A c.414C>T p.F138= Synonymous 2/6 - 1
19-43708054-G-C c.414C>G p.F138L Missense 2/6 - 1
19-43708054-G-T c.414C>A p.F138L Missense 2/6 - 1
19-43708056-A-G c.412T>C p.F138L Missense 2/6 - 1
19-43708059-G-T c.409C>A p.H137N Missense 2/6 - 1
19-43708061-C-T c.407G>A p.G136E Missense 2/6 - 8
19-43708070-C-T c.398G>A p.G133E Missense 2/6 - 3
19-43708073-C-T c.395G>A p.G132E Missense 2/6 - 1
19-43708074-C-A c.394G>T p.G132* Nonsense 2/6 - 1
19-43708079-C-T c.389G>A p.G130E Missense 2/6 - 2
19-43708080-C-A c.388G>T p.G130W Missense 2/6 - 1
19-43708081-A-T c.387T>A p.D129E Missense 2/6 - 1
19-43708083-C-T c.385G>A p.D129N Missense 2/6 - 8
19-43708084-G-A c.384C>T p.R128= Synonymous 2/6 - 3
19-43708084-G-C c.384C>G p.R128= Synonymous 2/6 - 2
19-43708084-G-T c.384C>A p.R128= Synonymous 2/6 - 1
19-43708085-C-T c.383G>A p.R128H Missense 2/6 - 1
19-43708086-G-C c.382C>G p.R128G Missense 2/6 - 1
19-43708088-C-T c.380G>A p.R127Q Missense 2/6 - 5
19-43708091-T-A c.377A>T p.K126M Missense 2/6 - 1
19-43708091-T-C c.377A>G p.K126R Missense 2/6 - 1
19-43708099-G-C c.369C>G p.H123Q Missense 2/6 - 2
19-43708099-G-T c.369C>A p.H123Q Missense 2/6 - 2
19-43708102-T-A c.366A>T p.L122F Missense 2/6 - 1
19-43708102-T-G c.366A>C p.L122F Missense 2/6 - 1
19-43708105-G-A c.363C>T p.T121= Synonymous 2/6 - 2
19-43708105-G-C c.363C>G p.T121= Synonymous 2/6 - 2
19-43708105-G-T c.363C>A p.T121= Synonymous 2/6 - 2
19-43708106-G-A c.362C>T p.T121I Missense 2/6 - 5
19-43708109-T-C c.359A>G p.Y120C Missense 2/6 - 1
19-43708110-A-G c.358T>C p.Y120H Missense 2/6 - 2
19-43708115-C-A c.353G>T p.G118V Missense 2/6 - 1
19-43708118-G-A c.350C>T p.A117V Missense 2/6 - 1
19-43708119-C-T c.349G>A p.A117T Missense 2/6 - 2
19-43708122-C-T c.346G>A p.D116N Missense 2/6 - 2
19-43708126-C-T c.342G>A p.Q114= Synonymous 2/6 - 3
19-43708128-G-A c.340C>T p.Q114* Nonsense 2/6 - 1
19-43708129-C-A c.339G>T p.T113= Synonymous 2/6 - 2
19-43708129-C-G c.339G>C p.T113= Synonymous 2/6 - 2
19-43708129-C-T c.339G>A p.T113= Synonymous 2/6 - 2
19-43708130-G-A c.338C>T p.T113M Missense 2/6 - 1
19-43708134-C-T c.334G>A p.V112I Missense 2/6 - 1
19-43708137-T-G c.331A>C p.N111H Missense 2/6 - 2
19-43708140-G-C c.328C>G p.Q110E Missense 2/6 - 1
19-43708141-G-A c.327C>T p.I109= Synonymous 2/6 - 2
19-43708141-G-T c.327C>A p.I109= Synonymous 2/6 - 2
19-43708144-C-A c.324G>T p.L108= Synonymous 2/6 - 2
19-43708144-C-T c.324G>A p.L108= Synonymous 2/6 - 1
19-43708147-C-A c.321G>T p.L107= Synonymous 2/6 - 2
19-43708147-C-G c.321G>C p.L107= Synonymous 2/6 - 1
19-43708147-C-T c.321G>A p.L107= Synonymous 2/6 - 1
19-43708149-G-A c.319C>T p.L107= Synonymous 2/6 - 1
19-43708151-G-A c.317C>T p.S106F Missense 2/6 - 1
19-43708155-C-T c.313G>A p.A105T Missense 2/6 - 1
19-43708163-T-A c.305A>T p.Y102F Missense 2/6 - 1
19-43708168-TCT-ACA c.298_300delinsTGT p.R100C Missense 2/6 - 1
19-43708169-C-A c.299G>T p.R100I Missense 2/6 - 4
19-43708174-T-A c.294A>T p.R98S Missense 2/6 - 3
19-43708174-T-G c.294A>C p.R98S Missense 2/6 - 2
19-43708175-C-A c.293G>T p.R98I Missense 2/6 - 1
19-43708175-C-G c.293G>C p.R98T Missense 2/6 - 2
19-43708178-C-T c.290G>A p.G97E Missense 2/6 - 1
19-43708179-C-A c.289G>T p.G97* Nonsense 2/6 - 1
19-43708181-C-T c.287G>A p.S96N Missense 2/6 - 2
19-43708185-A-G c.283T>C p.Y95H Missense 2/6 - 2
19-43708186-T-C c.282A>G p.A94= Synonymous 2/6 - 1
19-43708194-C-T c.274G>A p.G92R Missense 2/6 - 1
19-43708195-A-G c.273T>C p.Y91= Synonymous 2/6 - 1
19-43708201-A-C c.267T>G p.I89M Missense 2/6 - 1
19-43708205-C-A c.263G>T p.R88I Missense 2/6 - 4
19-43708205-C-G c.263G>C p.R88T Missense 2/6 - 2
19-43708209-G-C c.259C>G p.Q87E Missense 2/6 - 6
19-43708209-G-T c.259C>A p.Q87K Missense 2/6 - 1
19-43708211-C-G c.257G>C p.G86A Missense 2/6 - 1
19-43708212-C-A c.256G>T p.G86C Missense 2/6 - 2
19-43708212-C-T c.256G>A p.G86S Missense 2/6 - 1
19-43708213-G-A c.255C>T p.D85= Synonymous 2/6 - 3
19-43708221-C-G c.247G>C p.V83L Missense 2/6 - 1
19-43708224-A-G c.244T>C p.Y82H Missense 2/6 - 1
19-43708229-G-A c.239C>T p.T80I Missense 2/6 - 2
19-43708234-G-A c.234C>T p.Y78= Synonymous 2/6 - 4
19-43708235-T-C c.233A>G p.Y78C Missense 2/6 - 1
19-43708239-G-A c.229C>T p.H77Y Missense 2/6 - 3
19-43708240-G-A c.228C>T p.Y76= Synonymous 2/6 - 1
19-43708243-G-A c.225C>T p.L75= Synonymous 2/6 - 2
19-43708243-G-C c.225C>G p.L75= Synonymous 2/6 - 2
19-43708243-G-T c.225C>A p.L75= Synonymous 2/6 - 2
19-43708245-G-A c.223C>T p.L75F Missense 2/6 - 2
19-43708245-G-C c.223C>G p.L75V Missense 2/6 - 18
19-43708245-G-T c.223C>A p.L75I Missense 2/6 - 2
19-43708252-C-T c.216G>A p.M72I Missense 2/6 - 1
19-43708257-G-T c.211C>A p.Q71K UnclassifiedSNV 2/6 - 8
19-43708259-CC-TA c.208_209delinsTA p.G70* Nonsense 2/6 - 1
19-43708259-C-G c.209G>C p.G70A Missense 2/6 - 3
19-43708260-C-A c.208G>T p.G70W Missense 2/6 - 3
19-43708262-T-G c.206A>C p.K69T Missense 2/6 - 1
19-43708268-C-T c.200G>A p.W67* Nonsense 2/6 - 3
19-43708270-AA-CT c.197_198delinsAG p.I66K Missense 2/6 - 1
19-43708270-A-C c.198T>G p.I66M Missense 2/6 - 1
19-43708275-A-G c.193T>C p.Y65H Missense 2/6 - 1
19-43708280-GC-TA c.187_188delinsTA p.A63Y Missense 2/6 - 1
19-43708284-G-C c.184C>G p.L62V Missense 2/6 - 2
19-43708286-T-C c.182A>G p.N61S Missense 2/6 - 2
19-43708288-C-T c.180G>A p.Q60= Synonymous 2/6 - 3
19-43708290-G-A c.178C>T p.Q60* Nonsense 2/6 - 1
19-43708292-G-A c.176C>T p.P59L Missense 2/6 - 1
19-43708289-T-TG c.178dup p.Q60Pfs*111 Frameshift 2/6 - 1
19-43708293-G-A c.175C>T p.P59S Missense 2/6 - 1
19-43708296-A-G c.172T>C p.L58= Synonymous 2/6 - 2
19-43708302-G-A c.166C>T p.H56Y Missense 2/6 - 1
19-43708303-G-C c.165C>G p.V55= Synonymous 2/6 - 1
19-43708309-T-A c.159A>T p.L53= Synonymous 2/6 - 1
19-43708309-T-C c.159A>G p.L53= Synonymous 2/6 - 1
19-43708309-T-G c.159A>C p.L53= Synonymous 2/6 - 1
19-43708311-G-A c.157C>T p.L53= Synonymous 2/6 - 1
19-43708311-G-T c.157C>A p.L53I Missense 2/6 - 4
19-43708314-G-A c.154C>T p.L52F Missense 2/6 - 2
19-43708317-C-T c.151G>A p.V51I Missense 2/6 - 1
19-43708320-C-T c.148G>A p.D50N Missense 2/6 - 2
19-43708324-C-T c.144G>A p.G48= Synonymous 2/6 - 1
19-43708325-C-A c.143G>T p.G48V Missense 2/6 - 1
19-43708325-C-T c.143G>A p.G48E Missense 2/6 - 1
19-43708326-C-A c.142G>T p.G48W Missense 2/6 - 3
19-43708326-C-T c.142G>A p.G48R Missense 2/6 - 1
19-43708329-C-G c.139G>C p.E47Q Missense 2/6 - 2
19-43708329-C-T c.139G>A p.E47K Missense 2/6 - 5
19-43708331-G-C c.137C>G p.S46C Missense 2/6 - 1
19-43708334-A-G c.134T>C p.V45A Missense 2/6 - 1
19-43708336-T-G c.132A>C p.K44N Missense 2/6 - 1
19-43708341-G-A c.127C>T p.P43S Missense 2/6 - 1
19-43708344-G-A c.124C>T p.P42S Missense 2/6 - 1
19-43708345-C-T c.123G>A p.Q41= Synonymous 2/6 - 1
19-43708349-G-C c.119C>G p.A40G Missense 2/6 - 1
19-43708353-C-T c.115G>A p.E39K Missense 2/6 - 7
19-43708354-A-G c.114T>C p.I38= Synonymous 2/6 - 1
19-43708354-A-T c.114T>A p.I38= Synonymous 2/6 - 1
19-43708355-A-C c.113T>G p.I38S Missense 2/6 - 1
19-43708355-A-G c.113T>C p.I38T Missense 2/6 - 2
19-43708362-C-T c.106G>A p.V36I Missense 2/6 - 1
19-43708365-G-C c.103C>G p.Q35E Missense 2/6 - 1
19-43708368-C-T c.100G>A p.A34T Missense 2/6 - 1
19-43708372-T-A c.96A>T p.T32= Synonymous 2/6 - 1
19-43708372-T-C c.96A>G p.T32= Synonymous 2/6 - 1
19-43708372-T-G c.96A>C p.T32= Synonymous 2/6 - 1
19-43708376-G-A c.92C>T p.P31L UnclassifiedSNV 2/6 - 1
19-43708377-G-A c.91C>T p.P31S Missense 2/6 - 3
19-43708377-G-T c.91C>A p.P31T Missense 2/6 - 1
19-43708378-C-A c.90G>T p.P30= Synonymous 2/6 - 4
19-43708378-C-G c.90G>C p.P30= Synonymous 2/6 - 4
19-43708378-C-T c.90G>A p.P30= Synonymous 2/6 - 5
19-43708379-G-A c.89C>T p.P30L Missense 2/6 - 2
19-43708379-G-T c.89C>A p.P30Q Missense 2/6 - 1
19-43708380-G-A c.88C>T p.P30S Missense 2/6 - 1
19-43708384-C-T c.84G>A p.W28* Nonsense 2/6 - 6
19-43708385-C-T c.83G>A p.W28* Nonsense 2/6 - 2
19-43708388-A-C c.80T>G p.F27C Missense 2/6 - 1
19-43708389-A-C c.79T>G p.F27V Missense 2/6 - 1
19-43708390-G-A c.78C>T p.N26= Synonymous 2/6 - 1
19-43708395-A-C c.73T>G p.L25V Missense 2/6 - 1
19-43708397-AG-CT c.70_71inv p.L24S Missense 2/6 - 1
19-43708397-A-T c.71T>A p.L24H Missense 2/6 - 1
19-43708398-G-T c.70C>A p.L24I Missense 2/6 - 1
19-43708399-T-C c.69A>G p.S23= Synonymous 2/6 - 1
19-43708400-G-GA c.67dup p.S23Ffs*17 Frameshift 2/6 - 1
19-43708401-A-AC c.66_67insG p.S23Vfs*17 SpliceAcceptorInsertion 2/6 - 1
19-43708401-A-AG c.66_67insC p.S23Lfs*17 SpliceAcceptorInsertion 2/6 - 1
19-43708401-A-AT c.66dup p.S23Ifs*17 SpliceAcceptorInsertion 2/6 - 1
19-43708733-T-C c.65-330A>G - IntronicSNV - 1/5 2
19-43708752-G-A c.65-349C>T - IntronicSNV - 1/5 2
19-43708752-G-C c.65-349C>G - IntronicSNV - 1/5 2
19-43708793-G-A c.65-390C>T - IntronicSNV - 1/5 1
19-43708853-A-C c.65-450T>G - IntronicSNV - 1/5 3
19-43708853-A-G c.65-450T>C - IntronicSNV - 1/5 3
19-43708853-A-T c.65-450T>A - IntronicSNV - 1/5 3
19-43708926-G-A c.65-523C>T - IntronicSNV - 1/5 6
19-43708926-G-T c.65-523C>A - IntronicSNV - 1/5 6
19-43708968-T-A c.65-565A>T - IntronicSNV - 1/5 7
19-43708968-T-C c.65-565A>G - IntronicSNV - 1/5 7
19-43708968-T-G c.65-565A>C - IntronicSNV - 1/5 7
19-43708979-C-T c.65-576G>A - IntronicSNV - 1/5 2
19-43708985-C-T c.65-582G>A - IntronicSNV - 1/5 1
19-43709072-G-A c.64+553C>T - IntronicSNV - 1/5 4
19-43709144-A-T c.64+481T>A - IntronicSNV - 1/5 1
19-43709263-C-T c.64+362G>A - IntronicSNV - 1/5 1
19-43709527-G-A c.64+98C>T - IntronicSNV - 1/5 1
19-43709619-C-A c.64+6G>T - IntronicSNV - 1/5 5
19-43709619-C-T c.64+6G>A - IntronicSNV - 1/5 6
19-43709622-C-T c.64+3G>A - IntronicSNV - 1/5 1
19-43709629-G-A c.60C>T p.L20= Synonymous 1/6 - 1
19-43709629-G-C c.60C>G p.L20= Synonymous 1/6 - 1
19-43709629-G-T c.60C>A p.L20= Synonymous 1/6 - 1
19-43709632-C-T c.57G>A p.L19= Synonymous 1/6 - 1
19-43709633-A-C c.56T>G p.L19R Missense 1/6 - 2
19-43709635-G-A c.54C>T p.V18= Synonymous 1/6 - 1
19-43709635-G-C c.54C>G p.V18= Synonymous 1/6 - 1
19-43709635-G-T c.54C>A p.V18= Synonymous 1/6 - 1
19-43709637-C-A c.52G>T p.V18F Missense 1/6 - 1
19-43709637-C-G c.52G>C p.V18L Missense 1/6 - 14
19-43709639-C-G c.50G>C p.G17A Missense 1/6 - 3
19-43709640-C-G c.49G>C p.G17R Missense 1/6 - 2
19-43709640-C-T c.49G>A p.G17R Missense 1/6 - 5
19-43709641-C-T c.48G>A p.K16= Synonymous 1/6 - 1
19-43709643-T-A c.46A>T p.K16* Nonsense 1/6 - 1
19-43709647-G-A c.42C>T p.T14= Synonymous 1/6 - 10
19-43709647-G-C c.42C>G p.T14= Synonymous 1/6 - 9
19-43709647-G-T c.42C>A p.T14= Synonymous 1/6 - 9
19-43709648-G-A c.41C>T p.T14I Missense 1/6 - 1
19-43709650-G-A c.39C>T p.I13= Synonymous 1/6 - 2
19-43709654-C-A c.35G>T p.R12L Missense 1/6 - 17
19-43709654-C-T c.35G>A p.R12H Missense 1/6 - 4
19-43709656-C-A c.33G>T p.Q11H Missense 1/6 - 3
19-43709656-C-G c.33G>C p.Q11H Missense 1/6 - 22
19-43709656-C-T c.33G>A p.Q11= Synonymous 1/6 - 3
19-43709658-G-C c.31C>G p.Q11E Missense 1/6 - 3
19-43709665-G-A c.24C>T p.P8= Synonymous 1/6 - 1
19-43709665-G-C c.24C>G p.P8= Synonymous 1/6 - 1
19-43709665-G-T c.24C>A p.P8= Synonymous 1/6 - 1
19-43709670-G-A c.19C>T p.P7S Missense 1/6 - 2
19-43709673-C-T c.16G>A p.A6T Missense 1/6 - 1
19-43709675-G-C c.14C>G p.S5* Nonsense 1/6 - 1
19-43709675-G-T c.14C>A p.S5* Nonsense 1/6 - 1
19-43709679-G-T c.10C>A p.L4I Missense 1/6 - 1
19-43709680-G-A c.9C>T p.P3= Synonymous 1/6 - 1
19-43709680-G-C c.9C>G p.P3= Synonymous 1/6 - 1
19-43709680-G-T c.9C>A p.P3= Synonymous 1/6 - 1
19-43709681-G-A c.8C>T p.P3L Missense 1/6 - 1
19-43709682-G-T c.7C>A p.P3T Missense 1/6 - 4
19-43709683-C-A c.6G>T p.G2= Synonymous 1/6 - 2
19-43709683-C-G c.6G>C p.G2= Synonymous 1/6 - 2
19-43709683-C-T c.6G>A p.G2= Synonymous 1/6 - 2
19-43709684-C-T c.5G>A p.G2E Missense 1/6 - 4
19-43709685-C-A c.4G>T p.G2W Missense 1/6 - 2
19-43709685-C-T c.4G>A p.G2R Missense 1/6 - 1
19-43709686-C-A c.3G>T p.M1? Missense 1/6 - 1
19-43709686-C-T c.3G>A p.M1? Missense 1/6 - 2
19-43709708-T-C c.-20A>G - 5-UTRSNV 1/6 - 2
19-43709708-T-G c.-20A>C - 5-UTRSNV 1/6 - 2
19-43709725-A-G c.-37T>C - 5-UTRSNV 1/6 - 1
19-43709742-G-A c.-54C>T - 5-UTRSNV 1/6 - 1
19-43709742-G-T c.-54C>A - 5-UTRSNV 1/6 - 1