UPB1

UPB1 beta-ureidopropionase 1

Annotation transcript: NM_016327.3

482 unique variant annotations were identified in 268 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
22-24891309-C-T c.-63C>T - 5-UTRSNV 1/10 - 1
22-24891355-A-G c.-17A>G - 5-UTRSNV 1/10 - 9
22-24891355-A-T c.-17A>T - 5-UTRSNV 1/10 - 9
22-24891377-G-A c.6G>A p.A2= Synonymous 1/10 - 1
22-24891377-G-C c.6G>C p.A2= Synonymous 1/10 - 1
22-24891377-G-T c.6G>T p.A2= Synonymous 1/10 - 1
22-24891380-C-A c.9C>A p.G3= Synonymous 1/10 - 1
22-24891380-C-G c.9C>G p.G3= Synonymous 1/10 - 1
22-24891380-C-T c.9C>T p.G3= Synonymous 1/10 - 2
22-24891381-G-A c.10G>A p.A4T Missense 1/10 - 1
22-24891381-G-T c.10G>T p.A4S Missense 1/10 - 1
22-24891394-C-T c.23C>T p.S8L Missense 1/10 - 1
22-24891395-G-C c.24G>C p.S8= Synonymous 1/10 - 1
22-24891399-G-C c.28G>C p.E10Q Missense 1/10 - 2
22-24891401-G-T c.30G>T p.E10D Missense 1/10 - 4
22-24891409-T-C c.38T>C p.L13S Missense 1/10 - 1
22-24891409-T-G c.38T>G p.L13W Missense 1/10 - 1
22-24891411-G-A c.40G>A p.E14K Missense 1/10 - 2
22-24891417-C-T c.46C>T p.H16Y Missense 1/10 - 1
22-24891420-C-T c.49C>T p.L17= Synonymous 1/10 - 1
22-24891424-C-T c.53C>T p.P18L Missense 1/10 - 2
22-24891427-T-C c.56T>C p.L19P Missense 1/10 - 1
22-24891429-C-A c.58C>A p.P20T Missense 1/10 - 1
22-24891429-C-T c.58C>T p.P20S Missense 1/10 - 3
22-24891430-C-T c.59C>T p.P20L Missense 1/10 - 3
22-24891429-C-CCCT c.60_61insTCC p.P20_D21insS InFrameInsertion 1/10 - 1
22-24891432-G-A c.61G>A p.D21N Missense 1/10 - 1
22-24891444-G-A c.73G>A p.V25M Missense 1/10 - 1
22-24891453-G-A c.82G>A p.V28I Missense 1/10 - 1
22-24891456-C-T c.85C>T p.L29F Missense 1/10 - 1
22-24891457-T-C c.86T>C p.L29P Missense 1/10 - 1
22-24891460-A-G c.89A>G p.Y30C Missense 1/10 - 2
22-24891462-G-A c.91G>A p.G31S Missense 1/10 - 8
22-24891466-A-G c.95A>G p.K32R Missense 1/10 - 2
22-24891467-G-T c.96G>T p.K32N Missense 1/10 - 1
22-24891468-G-A c.97G>A p.E33K Missense 1/10 - 2
22-24891637-C-G c.104+162C>G - IntronicSNV - 1/9 2
22-24891637-C-T c.104+162C>T - IntronicSNV - 1/9 2
22-24894856-G-A c.105-1219G>A - IntronicSNV - 1/9 1
22-24896014-A-G c.105-61A>G - IntronicSNV - 1/9 3
22-24896068-C-G c.105-7C>G - IntronicSNV - 1/9 1
22-24896069-A-G c.105-6A>G - IntronicSNV - 1/9 1
22-24896073-A-G c.105-2A>G - IntronicSNV - 1/9 5
22-24896075-G-A c.105G>A p.R35= Synonymous 2/10 - 4
22-24896076-A-C c.106A>C p.K36Q Missense 2/10 - 1
22-24896082-G-C c.112G>C p.D38H Missense 2/10 - 1
22-24896088-C-T c.118C>T p.P40S Missense 2/10 - 1
22-24896089-C-T c.119C>T p.P40L Missense 2/10 - 2
22-24896094-G-A c.124G>A p.E42K Missense 2/10 - 1
22-24896096-A-G c.126A>G p.E42= Synonymous 2/10 - 1
22-24896097-G-A c.127G>A p.A43T Missense 2/10 - 1
22-24896097-GC-AA c.127_128delinsAA p.A43N Missense 2/10 - 1
22-24896097-GC-TG c.127_128delinsTG p.A43C Missense 2/10 - 1
22-24896102-C-T c.132C>T p.F44= Synonymous 2/10 - 5
22-24896103-G-A c.133G>A p.E45K Missense 2/10 - 4
22-24896106-G-C c.136G>C p.A46P Missense 2/10 - 1
22-24896106-GC-CT c.136_137delinsCT p.A46L Missense 2/10 - 1
22-24896107-CT-AG c.137_138inv p.A46E Missense 2/10 - 1
22-24896109-G-A c.139G>A p.A47T Missense 2/10 - 1
22-24896109-G-T c.139G>T p.A47S Missense 2/10 - 1
22-24896112-T-C c.142T>C p.S48P Missense 2/10 - 2
22-24896113-C-G c.143C>G p.S48C Missense 2/10 - 2
22-24896113-C-T c.143C>T p.S48F Missense 2/10 - 1
22-24896115-A-G c.145A>G p.R49G Missense 2/10 - 1
22-24896127-G-A c.157G>A p.E53K Missense 2/10 - 1
22-24896130-C-T c.160C>T p.L54= Synonymous 2/10 - 1
22-24896133-C-T c.163C>T p.Q55* Nonsense 2/10 - 1
22-24896136-G-A c.166G>A p.G56R Missense 2/10 - 3
22-24896136-G-C c.166G>C p.G56R Missense 2/10 - 1
22-24896137-G-A c.167G>A p.G56E Missense 2/10 - 1
22-24896137-G-T c.167G>T p.G56V Missense 2/10 - 1
22-24896143-C-A c.173C>A p.A58D Missense 2/10 - 3
22-24896147-T-C c.177T>C p.F59= Synonymous 2/10 - 1
22-24896155-C-T c.185C>T p.A62V Missense 2/10 - 1
22-24896156-G-A c.186G>A p.A62= Synonymous 2/10 - 1
22-24896161-A-G c.191A>G p.E64G Missense 2/10 - 1
22-24896164-A-T c.194A>T p.Q65L Missense 2/10 - 1
22-24896165-G-A c.195G>A p.Q65= Synonymous 2/10 - 1
22-24896167-T-C c.197T>C p.L66P Missense 2/10 - 1
22-24896169-A-C c.199A>C p.R67= Synonymous 2/10 - 1
22-24896171-A-G c.201A>G p.R67= Synonymous 2/10 - 1
22-24896172-C-T c.202C>T p.R68* Nonsense 2/10 - 2
22-24896173-G-A c.203G>A p.R68Q Missense 2/10 - 5
22-24896175-C-T c.205C>T p.P69S Missense 2/10 - 2
22-24896177-C-A c.207C>A p.P69= Synonymous 2/10 - 2
22-24896177-C-T c.207C>T p.P69= Synonymous 2/10 - 1
22-24896178-C-T c.208C>T p.R70C Missense 2/10 - 1
22-24896179-G-A c.209G>A p.R70H Missense 2/10 - 1
22-24896179-G-C c.209G>C p.R70P Missense 2/10 - 10
22-24896181-A-G c.211A>G p.I71V Missense 2/10 - 1
22-24896181-CATTGTG-C c.211_216del p.I71_V72del InFrameDeletion 2/10 - 1
22-24896182-T-C c.212T>C p.I71T Missense 2/10 - 1
22-24896185-T-C c.215T>C p.V72A Missense 2/10 - 1
22-24896187-C-A c.217C>A p.H73N Missense 2/10 - 1
22-24896188-A-G c.218A>G p.H73R Missense 2/10 - 2
22-24896190-G-C c.220G>C p.V74L Missense 2/10 - 1
22-24896190-G-T c.220G>T p.V74L Missense 2/10 - 1
22-24896193-G-A c.223G>A p.G75R Missense 2/10 - 1
22-24896194-G-A c.224G>A p.G75E Missense 2/10 - 2
22-24896202-C-T c.232C>T p.Q78* Nonsense 2/10 - 1
22-24896207-C-T c.237C>T p.N79= Synonymous 2/10 - 1
22-24896213-C-T c.243C>T p.I81= Synonymous 2/10 - 1
22-24896214-C-A c.244C>A p.P82T Missense 2/10 - 1
22-24896214-C-T c.244C>T p.P82S Missense 2/10 - 1
22-24896215-C-G c.245C>G p.P82R Missense 2/10 - 1
22-24896215-C-T c.245C>T p.P82L Missense 2/10 - 1
22-24896212-TC-T c.247del p.L83Sfs*18 Frameshift 2/10 - 2
22-24896219-C-A c.249C>A p.L83= Synonymous 2/10 - 1
22-24896219-C-G c.249C>G p.L83= Synonymous 2/10 - 1
22-24896219-C-T c.249C>T p.L83= Synonymous 2/10 - 1
22-24896220-C-T c.250C>T p.P84S Missense 2/10 - 1
22-24896221-C-A c.251C>A p.P84H Missense 2/10 - 1
22-24896222-C-A c.252C>A p.P84= Synonymous 2/10 - 2
22-24896222-C-G c.252C>G p.P84= Synonymous 2/10 - 1
22-24896222-C-T c.252C>T p.P84= Synonymous 2/10 - 1
22-24896223-G-A c.253G>A p.A85T Missense 2/10 - 2
22-24896224-C-A c.254C>A p.A85E Missense 2/10 - 12
22-24896224-C-T c.254C>T p.A85V Missense 2/10 - 2
22-24896229-G-A c.259G>A p.A87T Missense 2/10 - 1
22-24896230-C-A c.260C>A p.A87D Missense 2/10 - 1
22-24896230-C-G c.260C>G p.A87G Missense 2/10 - 1
22-24896230-C-T c.260C>T p.A87V Missense 2/10 - 1
22-24896232-C-T c.262C>T p.P88S Missense 2/10 - 1
22-24896233-C-T c.263C>T p.P88L Missense 2/10 - 5
22-24896319-C-T c.276+73C>T - IntronicSNV - 2/9 1
22-24896795-G-A c.276+549G>A - IntronicSNV - 2/9 1
22-24898092-A-G c.277-2A>G - IntronicSNV - 2/9 1
22-24898099-T-C c.282T>C p.S94= Synonymous 3/10 - 1
22-24898100-G-A c.283G>A p.A95T Missense 3/10 - 1
22-24898103-C-A c.286C>A p.L96I Missense 3/10 - 1
22-24898103-C-T c.286C>T p.L96F Missense 3/10 - 2
22-24898107-A-G c.290A>G p.H97R Missense 3/10 - 2
22-24898112-C-T c.295C>T p.R99C Missense 3/10 - 2
22-24898113-G-A c.296G>A p.R99H Missense 3/10 - 2
22-24898115-A-G c.298A>G p.I100V Missense 3/10 - 1
22-24898119-A-T c.302A>T p.K101M Missense 3/10 - 1
22-24898125-T-C c.308T>C p.I103T Missense 3/10 - 1
22-24898128-T-C c.311T>C p.V104A Missense 3/10 - 1
22-24898133-G-A c.316G>A p.V106M Missense 3/10 - 1
22-24898136-G-A c.319G>A p.A107T Missense 3/10 - 2
22-24898137-C-T c.320C>T p.A107V Missense 3/10 - 3
22-24898138-T-A c.321T>A p.A107= Synonymous 3/10 - 1
22-24898138-T-C c.321T>C p.A107= Synonymous 3/10 - 1
22-24898138-T-G c.321T>G p.A107= Synonymous 3/10 - 1
22-24898149-G-T c.332G>T p.G111V Missense 3/10 - 2
22-24898152-T-C c.335T>C p.V112A Missense 3/10 - 1
22-24898153-C-T c.336C>T p.V112= Synonymous 3/10 - 2
22-24898156-C-T c.339C>T p.N113= Synonymous 3/10 - 1
22-24898159-C-G c.342C>G p.I114M Missense 3/10 - 1
22-24898175-G-A c.358G>A p.A120T Missense 3/10 - 1
22-24898175-G-T c.358G>T p.A120S Missense 3/10 - 2
22-24898306-T-G c.364+125T>G - IntronicSNV - 3/9 1
22-24898310-C-T c.364+129C>T - IntronicSNV - 3/9 8
22-24898328-C-G c.364+147C>G - IntronicSNV - 3/9 1
22-24898328-C-T c.364+147C>T - IntronicSNV - 3/9 1
22-24898331-C-T c.364+150C>T - IntronicSNV - 3/9 1
22-24898332-G-A c.364+151G>A - IntronicSNV - 3/9 1
22-24898334-C-G c.364+153C>G - IntronicSNV - 3/9 1
22-24898348-C-T c.364+167C>T - IntronicSNV - 3/9 1
22-24898355-A-T c.364+174A>T - IntronicSNV - 3/9 1
22-24898371-C-G c.364+190C>G - IntronicSNV - 3/9 1
22-24898386-A-G c.364+205A>G - IntronicSNV - 3/9 1
22-24898416-C-G c.364+235C>G - IntronicSNV - 3/9 1
22-24898418-C-G c.364+237C>G - IntronicSNV - 3/9 1
22-24898459-G-A c.364+278G>A - IntronicSNV - 3/9 1
22-24898469-A-G c.364+288A>G - IntronicSNV - 3/9 1
22-24898490-G-A c.364+309G>A - IntronicSNV - 3/9 1
22-24898490-G-C c.364+309G>C - IntronicSNV - 3/9 1
22-24898525-C-T c.364+344C>T - IntronicSNV - 3/9 1
22-24900045-C-G c.364+1864C>G - IntronicSNV - 3/9 1
22-24906613-C-T c.365-104C>T - IntronicSNV - 3/9 1
22-24906626-C-A c.365-91C>A - IntronicSNV - 3/9 1
22-24906720-T-C c.368T>C p.M123T Missense 4/10 - 1
22-24906722-CC-TT c.370_371delinsTT p.P124F Missense 4/10 - 1
22-24906722-C-T c.370C>T p.P124S Missense 4/10 - 3
22-24906723-C-A c.371C>A p.P124H Missense 4/10 - 1
22-24906723-C-T c.371C>T p.P124L Missense 4/10 - 1
22-24906726-T-A c.374T>A p.F125Y Missense 4/10 - 3
22-24906731-T-C c.379T>C p.F127L Missense 4/10 - 1
22-24906733-C-A c.381C>A p.F127L Missense 4/10 - 1
22-24906733-C-G c.381C>G p.F127L Missense 4/10 - 2
22-24906734-T-C c.382T>C p.C128R Missense 4/10 - 1
22-24906737-A-T c.385A>T p.T129S Missense 4/10 - 1
22-24906738-C-T c.386C>T p.T129M Missense 4/10 - 2
22-24906739-G-A c.387G>A p.T129= Synonymous 4/10 - 4
22-24906739-G-C c.387G>C p.T129= Synonymous 4/10 - 1
22-24906739-G-T c.387G>T p.T129= Synonymous 4/10 - 1
22-24906741-G-A c.389G>A p.R130K Missense 4/10 - 2
22-24906743-G-A c.391G>A p.E131K Missense 4/10 - 2
22-24906749-C-T c.397C>T p.L133F Missense 4/10 - 3
22-24906750-T-G c.398T>G p.L133R Missense 4/10 - 1
22-24906756-G-A c.404G>A p.W135* Nonsense 4/10 - 1
22-24906757-G-A c.405G>A p.W135* Nonsense 4/10 - 2
22-24906759-C-G c.407C>G p.T136R Missense 4/10 - 1
22-24906761-G-A c.409G>A p.E137K Missense 4/10 - 1
22-24906761-G-C c.409G>C p.E137Q Missense 4/10 - 2
22-24906762-A-C c.410A>C p.E137A Missense 4/10 - 1
22-24906774-C-A c.422C>A p.S141* Nonsense 4/10 - 1
22-24906774-C-G c.422C>G p.S141* Nonsense 4/10 - 1
22-24906774-C-T c.422C>T p.S141L Missense 4/10 - 1
22-24906778-A-C c.426A>C p.A142= Synonymous 4/10 - 1
22-24906778-A-G c.426A>G p.A142= Synonymous 4/10 - 2
22-24906778-A-T c.426A>T p.A142= Synonymous 4/10 - 1
22-24906785-G-A c.433G>A p.G145R Missense 4/10 - 1
22-24906789-C-T c.437C>T p.P146L Missense 4/10 - 4
22-24906787-GC-G c.438del p.T147Pfs*37 Frameshift 4/10 - 1
22-24906793-C-A c.441C>A p.T147= Synonymous 4/10 - 1
22-24906793-C-G c.441C>G p.T147= Synonymous 4/10 - 1
22-24906793-C-T c.441C>T p.T147= Synonymous 4/10 - 2
22-24906794-A-T c.442A>T p.T148S Missense 4/10 - 1
22-24906801-T-A c.449T>A p.F150Y Missense 4/10 - 1
22-24906901-A-T c.459+90A>T - IntronicSNV - 4/9 1
22-24906963-CT-C c.459+162del - IntronicDeletion - 4/9 1
22-24909295-G-A c.463G>A p.A155T Missense 5/10 - 1
22-24909296-C-G c.464C>G p.A155G Missense 5/10 - 2
22-24909296-C-T c.464C>T p.A155V Missense 5/10 - 2
22-24909297-G-A c.465G>A p.A155= Synonymous 5/10 - 1
22-24909297-G-C c.465G>C p.A155= Synonymous 5/10 - 1
22-24909297-G-T c.465G>T p.A155= Synonymous 5/10 - 1
22-24909298-A-G c.466A>G p.K156E Missense 5/10 - 1
22-24909300-G-C c.468G>C p.K156N Missense 5/10 - 1
22-24909300-G-T c.468G>T p.K156N Missense 5/10 - 1
22-24909307-G-A c.475G>A p.D159N Missense 5/10 - 1
22-24909313-G-C c.481G>C p.V161L Missense 5/10 - 1
22-24909319-G-A c.487G>A p.V163M Missense 5/10 - 1
22-24909320-T-G c.488T>G p.V163G Missense 5/10 - 2
22-24909323-C-A c.491C>A p.S164Y Missense 5/10 - 1
22-24909325-C-T c.493C>T p.P165S Missense 5/10 - 1
22-24909326-C-T c.494C>T p.P165L Missense 5/10 - 1
22-24909330-C-A c.498C>A p.I166= Synonymous 5/10 - 1
22-24909337-C-T c.505C>T p.R169* Nonsense 5/10 - 1
22-24909338-G-A c.506G>A p.R169Q Missense 5/10 - 13
22-24909345-C-T c.513C>T p.S171= Synonymous 5/10 - 1
22-24909346-G-A c.514G>A p.E172K Missense 5/10 - 1
22-24909347-A-T c.515A>T p.E172V Missense 5/10 - 1
22-24909348-G-A c.516G>A p.E172= Synonymous 5/10 - 1
22-24909355-G-A c.523G>A p.D175N Missense 5/10 - 1
22-24909358-G-A c.526G>A p.V176I Missense 5/10 - 1
22-24909365-G-A c.533G>A p.W178* Nonsense 5/10 - 1
22-24909366-G-A c.534G>A p.W178* Nonsense 5/10 - 1
22-24909371-C-T c.539C>T p.T180I Missense 5/10 - 1
22-24909374-CC-AG c.542_543delinsAG p.A181E Missense 5/10 - 1
22-24909374-C-T c.542C>T p.A181V Missense 5/10 - 1
22-24909375-C-A c.543C>A p.A181= Synonymous 5/10 - 1
22-24909380-T-C c.548T>C p.V183A Missense 5/10 - 1
22-24909383-AT-A c.551del p.I184Tfs*47 Frameshift 5/10 - 1
22-24909383-T-A c.551T>A p.I184N Missense 5/10 - 2
22-24909386-C-T c.554C>T p.S185F Missense 5/10 - 1
22-24909392-C-T c.560C>T p.S187F Missense 5/10 - 2
22-24909393-C-T c.561C>T p.S187= Synonymous 5/10 - 2
22-24909394-G-A c.562G>A p.G188R Missense 5/10 - 2
22-24909394-G-C c.562G>C p.G188R Missense 5/10 - 1
22-24909397-G-A c.565G>A p.A189T Missense 5/10 - 1
22-24909403-C-T c.571C>T p.L191= Synonymous 5/10 - 3
22-24909409-A-G c.577A>G p.K193E Missense 5/10 - 1
22-24909411-G-A c.579G>A p.K193= Synonymous 5/10 - 2
22-24909413-C-T c.581C>T p.T194I Missense 5/10 - 1
22-24909422-A-G c.590A>G p.N197S Missense 5/10 - 1
22-24909424-C-A c.592C>A p.H198N Missense 5/10 - 1
22-24909430-C-T c.598C>T p.P200S Missense 5/10 - 1
22-24909431-C-T c.599C>T p.P200L Missense 5/10 - 1
22-24909433-AG-CC c.601_602delinsCC p.R201P Missense 5/10 - 1
22-24909437-T-C c.605T>C p.V202A Missense 5/10 - 1
22-24909439-G-A c.607G>A p.G203S Missense 5/10 - 1
22-24909442-G-T c.610G>T p.D204Y Missense 5/10 - 3
22-24909449-A-G c.617A>G p.N206S Missense 5/10 - 2
22-24909450-C-A c.618C>A p.N206K Missense 5/10 - 2
22-24909450-C-G c.618C>G p.N206K Missense 5/10 - 1
22-24909450-C-T c.618C>T p.N206= Synonymous 5/10 - 4
22-24909451-G-A c.619G>A p.E207K Missense 5/10 - 2
22-24909455-T-A c.621+2T>A - IntronicSNV - 5/9 2
22-24909466-T-A c.621+13T>A - IntronicSNV - 5/9 1
22-24911177-C-T c.630C>T p.Y210= Synonymous 6/10 - 1
22-24911185-A-G c.638A>G p.E213G Missense 6/10 - 1
22-24911186-G-T c.639G>T p.E213D Missense 6/10 - 1
22-24911188-G-A c.641G>A p.G214E Missense 6/10 - 1
22-24911196-G-T c.649G>T p.G217C Missense 6/10 - 1
22-24911202-C-T c.655C>T p.P219S Missense 6/10 - 2
22-24911203-C-T c.656C>T p.P219L Missense 6/10 - 1
22-24911205-G-A c.658G>A p.V220M Missense 6/10 - 2
22-24911208-T-C c.661T>C p.F221L Missense 6/10 - 1
22-24911210-C-G c.663C>G p.F221L Missense 6/10 - 1
22-24911210-C-A c.663C>A p.F221L Missense 6/10 - 2
22-24911215-C-T c.668C>T p.T223M Missense 6/10 - 1
22-24911216-G-A c.669G>A p.T223= Synonymous 6/10 - 1
22-24911216-G-C c.669G>C p.T223= Synonymous 6/10 - 1
22-24911216-G-T c.669G>T p.T223= Synonymous 6/10 - 1
22-24911217-C-T c.670C>T p.Q224* Nonsense 6/10 - 1
22-24911222-C-T c.675C>T p.F225= Synonymous 6/10 - 1
22-24911223-G-A c.676G>A p.G226R Missense 6/10 - 1
22-24911227-G-A c.680G>A p.R227K Missense 6/10 - 3
22-24911228-G-A c.681G>A p.R227= Synonymous 6/10 - 1
22-24911229-A-T c.682A>T p.I228F Missense 6/10 - 1
22-24911231-C-A c.684C>A p.I228= Synonymous 6/10 - 1
22-24911231-C-T c.684C>T p.I228= Synonymous 6/10 - 1
22-24911232-G-A c.685G>A p.A229T Missense 6/10 - 3
22-24911233-C-A c.686C>A p.A229E Missense 6/10 - 2
22-24911234-G-A c.687G>A p.A229= Synonymous 6/10 - 1
22-24911241-A-G c.694A>G p.I232V Missense 6/10 - 1
22-24911248-A-G c.701A>G p.Y234C Missense 6/10 - 1
22-24911249-C-T c.702C>T p.Y234= Synonymous 6/10 - 1
22-24911250-G-A c.703G>A p.G235R Missense 6/10 - 9
22-24911250-G-C c.703G>C p.G235R Missense 6/10 - 4
22-24911253-C-T c.706C>T p.R236W Missense 6/10 - 9
22-24911254-G-A c.707G>A p.R236Q Missense 6/10 - 3
22-24911256-C-T c.709C>T p.H237Y Missense 6/10 - 1
22-24911261-C-G c.714C>G p.H238Q Missense 6/10 - 1
22-24911263-C-A c.716C>A p.P239H Missense 6/10 - 2
22-24911268-A-G c.721A>G p.N241D Missense 6/10 - 1
22-24911272-G-A c.725G>A p.W242* Nonsense 6/10 - 1
22-24911273-G-A c.726G>A p.W242* Nonsense 6/10 - 2
22-24911279-G-A c.732G>A p.M244I Missense 6/10 - 3
22-24911279-G-C c.732G>C p.M244I Missense 6/10 - 1
22-24911279-G-T c.732G>T p.M244I Missense 6/10 - 1
22-24911281-A-G c.734A>G p.Y245C Missense 6/10 - 1
22-24911293-G-C c.746G>C p.G249A Missense 6/10 - 1
22-24911294-G-A c.747G>A p.G249= Synonymous 6/10 - 1
22-24911294-G-C c.747G>C p.G249= Synonymous 6/10 - 1
22-24911294-G-T c.747G>T p.G249= Synonymous 6/10 - 1
22-24911295-G-A c.748G>A p.A250T Missense 6/10 - 3
22-24911298-G-T c.751G>T p.E251* Nonsense 6/10 - 1
22-24911310-A-G c.763A>G p.N255D Missense 6/10 - 2
22-24911313-C-T c.766C>T p.P256S Missense 6/10 - 1
22-24911317-C-T c.770C>T p.S257L Missense 6/10 - 2
22-24911318-G-A c.771G>A p.S257= Synonymous 6/10 - 2
22-24911318-G-C c.771G>C p.S257= Synonymous 6/10 - 2
22-24911318-G-T c.771G>T p.S257= Synonymous 6/10 - 2
22-24911324-G-A c.777G>A p.T259= Synonymous 6/10 - 3
22-24911329-G-A c.782G>A p.G261E Missense 6/10 - 1
22-24911338-G-A c.791G>A p.S264N Missense 6/10 - 1
22-24911343-C-G c.791+5C>G - IntronicSNV - 6/9 1
22-24912232-C-T c.791+894C>T - IntronicSNV - 6/9 1
22-24911337-A-C c.790A>C p.S264R Missense 6/10 - 3
22-24916355-C-A c.792C>A p.S264R Missense 7/10 - 9
22-24916355-C-G c.792C>G p.S264R Missense 7/10 - 3
22-24916355-C-T c.792C>T p.S264= Synonymous 7/10 - 2
22-24916356-G-A c.793G>A p.E265K Missense 7/10 - 3
22-24916358-G-C c.795G>C p.E265D Missense 7/10 - 1
22-24916358-G-T c.795G>T p.E265D Missense 7/10 - 1
22-24916360-C-A c.797C>A p.S266Y Missense 7/10 - 1
22-24916362-C-A c.799C>A p.L267M Missense 7/10 - 1
22-24916368-C-T c.805C>T p.P269S Missense 7/10 - 1
22-24916369-C-T c.806C>T p.P269L Missense 7/10 - 1
22-24916372-T-C c.809T>C p.I270T Missense 7/10 - 1
22-24916373-C-A c.810C>A p.I270= Synonymous 7/10 - 1
22-24916373-C-T c.810C>T p.I270= Synonymous 7/10 - 5
22-24916374-G-A c.811G>A p.E271K Missense 7/10 - 5
22-24916372-TCGAGGCCAGAAA-T c.812_823del p.E271_N274del InFrameDeletion 7/10 - 3
22-24916377-G-A c.814G>A p.A272T Missense 7/10 - 2
22-24916378-C-T c.815C>T p.A272V Missense 7/10 - 1
22-24916379-C-T c.816C>T p.A272= Synonymous 7/10 - 1
22-24916383-AAAC-A c.820_822del p.N274del InFrameDeletion 7/10 - 1
22-24916386-G-A c.823G>A p.A275T Missense 7/10 - 1
22-24916389-GC-G c.828del p.I277Lfs*62 Frameshift 7/10 - 1
22-24916395-G-T c.832G>T p.A278S Missense 7/10 - 1
22-24916400-T-A c.837T>A p.N279K Missense 7/10 - 1
22-24916409-C-T c.846C>T p.F282= Synonymous 7/10 - 2
22-24916410-A-G c.847A>G p.T283A Missense 7/10 - 2
22-24916414-G-T c.851G>T p.C284F Missense 7/10 - 3
22-24916415-C-T c.852C>T p.C284= Synonymous 7/10 - 2
22-24916416-G-A c.853G>A p.A285T Missense 7/10 - 4
22-24916417-C-T c.854C>T p.A285V Missense 7/10 - 2
22-24916420-T-C c.857T>C p.I286T Missense 7/10 - 4
22-24916421-C-G c.858C>G p.I286M Missense 7/10 - 1
22-24916418-CATCA-C c.859_862del p.N287Efs*51 Frameshift 7/10 - 1
22-24916419-ATCAATCGAGTGGGCACCGTAAG-A c.859_873+7del - SpliceDonorDeletion 7/10 7/9 1
22-24916425-C-T c.862C>T p.R288* Nonsense 7/10 - 7
22-24916426-G-A c.863G>A p.R288Q Missense 7/10 - 1
22-24916426-G-C c.863G>C p.R288P Missense 7/10 - 1
22-24916429-T-G c.866T>G p.V289G Missense 7/10 - 2
22-24916430-G-T c.867G>T p.V289= Synonymous 7/10 - 1
22-24916431-G-A c.868G>A p.G290S Missense 7/10 - 1
22-24916437-G-A c.873+1G>A - IntronicSNV - 7/9 2
22-24917852-G-A c.874-102G>A - IntronicSNV - 7/9 5
22-24917954-G-A c.874G>A p.E292K Missense 8/10 - 3
22-24917964-C-A c.884C>A p.P295Q Missense 8/10 - 1
22-24917964-C-G c.884C>G p.P295R Missense 8/10 - 1
22-24917964-C-T c.884C>T p.P295L Missense 8/10 - 1
22-24917969-G-GCAA c.889_890insCAA p.E297delinsAK MultiAAMissense 8/10 - 1
22-24917979-C-G c.899C>G p.S300W Missense 8/10 - 1
22-24917979-C-T c.899C>T p.S300L Missense 8/10 - 2
22-24917979-TC-T c.899del p.S300Wfs*39 Frameshift 8/10 - 2
22-24917987-G-A c.907G>A p.G303R Missense 8/10 - 4
22-24917987-G-C c.907G>C p.G303R Missense 8/10 - 2
22-24917992-G-C c.912G>C p.K304N Missense 8/10 - 1
22-24918246-G-A c.916+250G>A - IntronicSNV - 8/9 1
22-24919329-T-C c.917-258T>C - IntronicSNV - 8/9 1
22-24919586-G-A c.917-1G>A - IntronicSNV - 8/9 8
22-24919589-C-A c.919C>A p.H307N Missense 9/10 - 1
22-24919593-A-C c.923A>C p.Q308P Missense 9/10 - 1
22-24919594-G-T c.924G>T p.Q308H Missense 9/10 - 1
22-24919596-A-G c.926A>G p.D309G Missense 9/10 - 2
22-24919597-C-A c.927C>A p.D309E Missense 9/10 - 1
22-24919597-C-G c.927C>G p.D309E Missense 9/10 - 4
22-24919602-G-A c.932G>A p.G311D Missense 9/10 - 1
22-24919603-C-A c.933C>A p.G311= Synonymous 9/10 - 2
22-24919603-C-G c.933C>G p.G311= Synonymous 9/10 - 1
22-24919603-C-T c.933C>T p.G311= Synonymous 9/10 - 1
22-24919604-T-A c.934T>A p.Y312N Missense 9/10 - 1
22-24919611-A-G c.941A>G p.Y314C Missense 9/10 - 1
22-24919612-T-A c.942T>A p.Y314* Nonsense 9/10 - 2
22-24919612-T-G c.942T>G p.Y314* Nonsense 9/10 - 2
22-24919614-G-A c.944G>A p.G315D Missense 9/10 - 1
22-24919624-T-C c.954T>C p.Y318= Synonymous 9/10 - 3
22-24919627-G-A c.957G>A p.V319= Synonymous 9/10 - 3
22-24919627-G-C c.957G>C p.V319= Synonymous 9/10 - 1
22-24919627-G-T c.957G>T p.V319= Synonymous 9/10 - 1
22-24919633-C-A c.963C>A p.A321= Synonymous 9/10 - 1
22-24919633-C-G c.963C>G p.A321= Synonymous 9/10 - 1
22-24919633-C-T c.963C>T p.A321= Synonymous 9/10 - 1
22-24919634-C-A c.964C>A p.P322T Missense 9/10 - 1
22-24919634-C-T c.964C>T p.P322S Missense 9/10 - 1
22-24919641-G-A c.971G>A p.S324N Missense 9/10 - 2
22-24919646-C-A c.976C>A p.R326= Synonymous 9/10 - 1
22-24919646-C-T c.976C>T p.R326W Missense 9/10 - 1
22-24919647-G-A c.977G>A p.R326Q Missense 9/10 - 21
22-24919649-A-C c.979A>C p.T327P Missense 9/10 - 1
22-24919653-C-A c.983C>A p.P328H Missense 9/10 - 1
22-24919653-C-T c.983C>T p.P328L Missense 9/10 - 1
22-24919654-T-A c.984T>A p.P328= Synonymous 9/10 - 1
22-24919654-T-C c.984T>C p.P328= Synonymous 9/10 - 1
22-24919654-T-G c.984T>G p.P328= Synonymous 9/10 - 1
22-24919655-G-T c.985G>T p.G329W Missense 9/10 - 1
22-24919664-C-T c.994C>T p.R332C Missense 9/10 - 3
22-24919665-G-A c.995G>A p.R332H Missense 9/10 - 1
22-24919668-G-C c.998G>C p.S333T Missense 9/10 - 1
22-24919669-CC-TT c.999_1000delinsTT p.R334W Missense 9/10 - 1
22-24919670-C-T c.1000C>T p.R334W Missense 9/10 - 9
22-24919673-G-A c.1003G>A p.D335N Missense 9/10 - 1
22-24919673-G-T c.1003G>T p.D335Y Missense 9/10 - 2
22-24919675-T-C c.1005T>C p.D335= Synonymous 9/10 - 1
22-24919676-G-A c.1006G>A p.G336R Missense 9/10 - 1
22-24919678-A-G c.1008A>G p.G336= Synonymous 9/10 - 1
22-24919689-C-A c.1019C>A p.A340D Missense 9/10 - 2
22-24919696-C-A c.1026C>A p.L342= Synonymous 9/10 - 1
22-24919696-C-G c.1026C>G p.L342= Synonymous 9/10 - 1
22-24919696-C-T c.1026C>T p.L342= Synonymous 9/10 - 3
22-24919697-G-A c.1027G>A p.D343N Missense 9/10 - 2
22-24919697-G-C c.1027G>C p.D343H Missense 9/10 - 1
22-24919699-C-G c.1029C>G p.D343E Missense 9/10 - 1
22-24919700-C-A c.1030C>A p.L344I Missense 9/10 - 1
22-24919711-C-T c.1041C>T p.C347= Synonymous 9/10 - 2
22-24919714-G-A c.1044G>A p.Q348= Synonymous 9/10 - 1
22-24919714-G-T c.1044G>T p.Q348H Missense 9/10 - 1
22-24919716-A-C c.1046A>C p.Q349P Missense 9/10 - 2
22-24919716-A-G c.1046A>G p.Q349R Missense 9/10 - 1
22-24919724-G-T c.1054G>T p.D352Y Missense 9/10 - 1
22-24919732-G-A c.1062G>A p.W354* Nonsense 9/10 - 5
22-24919733-A-G c.1063A>G p.N355D Missense 9/10 - 2
22-24919733-A-T c.1063A>T p.N355Y Missense 9/10 - 1
22-24919735-C-A c.1065C>A p.N355K Missense 9/10 - 1
22-24919735-C-G c.1065C>G p.N355K Missense 9/10 - 1
22-24919738-C-T c.1068C>T p.F356= Synonymous 9/10 - 3
22-24919941-G-A c.1071+200G>A - IntronicSNV - 9/9 1
22-24920018-T-C c.1071+277T>C - IntronicSNV - 9/9 1
22-24921558-C-T c.1072-121C>T - IntronicSNV - 9/9 2
22-24921679-A-T c.1072A>T p.M358L Missense 10/10 - 1
22-24921682-A-G c.1075A>G p.T359A Missense 10/10 - 4
22-24921683-C-T c.1076C>T p.T359M Missense 10/10 - 3
22-24921692-A-G c.1085A>G p.Y362C Missense 10/10 - 2
22-24921693-T-C c.1086T>C p.Y362= Synonymous 10/10 - 2
22-24921694-G-C c.1087G>C p.E363Q Missense 10/10 - 1
22-24921703-G-A c.1096G>A p.A366T Missense 10/10 - 1
22-24921706-C-T c.1099C>T p.R367W Missense 10/10 - 2
22-24921707-G-A c.1100G>A p.R367Q Missense 10/10 - 1
22-24921714-C-A c.1107C>A p.L369= Synonymous 10/10 - 1
22-24921714-C-G c.1107C>G p.L369= Synonymous 10/10 - 1
22-24921714-C-T c.1107C>T p.L369= Synonymous 10/10 - 2
22-24921715-G-A c.1108G>A p.A370T Missense 10/10 - 1
22-24921718-G-A c.1111G>A p.E371K Missense 10/10 - 2
22-24921720-A-C c.1113A>C p.E371D Missense 10/10 - 1
22-24921720-A-T c.1113A>T p.E371D Missense 10/10 - 1
22-24921727-A-T c.1120A>T p.K374* Nonsense 10/10 - 1
22-24921729-G-A c.1122G>A p.K374= Synonymous 10/10 - 3
22-24921736-T-C c.1129T>C p.Y377H Missense 10/10 - 1
22-24921737-A-G c.1130A>G p.Y377C Missense 10/10 - 2
22-24921750-C-A c.1143C>A p.I381= Synonymous 10/10 - 1
22-24921750-C-T c.1143C>T p.I381= Synonymous 10/10 - 1
22-24921751-G-A c.1144G>A p.V382M Missense 10/10 - 1
22-24921753-G-A c.1146G>A p.V382= Synonymous 10/10 - 1
22-24921756-A-G c.1149A>G p.K383= Synonymous 10/10 - 1
22-24922452-T-G c.*690T>G - 3-UTRSNV 10/10 - 3