UNG

UNG uracil DNA glycosylase

Annotation transcript: NM_080911.3

500 unique variant annotations were identified in 535 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
12-109535491-G-A c.7G>A p.G3S Missense 1/7 - 1
12-109535493-C-T c.9C>T p.G3= Synonymous 1/7 - 1
12-109535494-C-A c.10C>A p.Q4K Missense 1/7 - 1
12-109535495-A-G c.11A>G p.Q4R Missense 1/7 - 1
12-109535499-G-A c.15G>A p.K5= Synonymous 1/7 - 2
12-109535503-C-T c.19C>T p.L7F Missense 1/7 - 1
12-109535515-T-C c.31T>C p.F11L Missense 1/7 - 2
12-109535515-TT-CG c.31_32delinsCG p.F11R Missense 1/7 - 8
12-109535517-C-A c.33C>A p.F11L Missense 1/7 - 1
12-109535517-C-G c.33C>G p.F11L Missense 1/7 - 1
12-109535518-T-C c.34T>C p.S12P Missense 1/7 - 2
12-109535518-TC-CA c.34_35delinsCA p.S12H Missense 1/7 - 1
12-109535518-TC-CG c.34_35delinsCG p.S12R Missense 1/7 - 1
12-109535518-TCC-GAG c.34_36delinsGAG p.S12E Missense 1/7 - 3
12-109535518-TC-GA c.34_35inv p.S12D Missense 1/7 - 2
12-109535518-TC-GG c.34_35delinsGG p.S12G Missense 1/7 - 1
12-109535518-T-G c.34T>G p.S12A Missense 1/7 - 20
12-109535519-C-G c.35C>G p.S12C Missense 1/7 - 6
12-109535519-C-T c.35C>T p.S12F Missense 1/7 - 2
12-109535520-C-A c.36C>A p.S12= Synonymous 1/7 - 1
12-109535520-C-G c.36C>G p.S12= Synonymous 1/7 - 1
12-109535520-C-T c.36C>T p.S12= Synonymous 1/7 - 1
12-109535521-CCC-AAG c.37_39delinsAAG p.P13K Missense 1/7 - 9
12-109535521-CC-TT c.37_38delinsTT p.P13F Missense 1/7 - 1
12-109535522-C-G c.38C>G p.P13R Missense 1/7 - 1
12-109535522-C-T c.38C>T p.P13L Missense 1/7 - 1
12-109535524-AGC-GAG c.40_42delinsGAG p.S14E Missense 1/7 - 1
12-109535524-AG-GA c.40_41delinsGA p.S14D Missense 1/7 - 3
12-109535524-AG-GC c.40_41delinsGC p.S14A Missense 1/7 - 11
12-109535524-AG-TT c.40_41delinsTT p.S14F Missense 1/7 - 1
12-109535524-A-T c.40A>T p.S14C Missense 1/7 - 2
12-109535527-CC-AT c.43_44delinsAT p.P15I Missense 1/7 - 1
12-109535527-C-G c.43C>G p.P15A Missense 1/7 - 3
12-109535528-C-T c.44C>T p.P15L Missense 1/7 - 3
12-109535530-G-A c.46G>A p.A16T Missense 1/7 - 1
12-109535530-GCC-CAA c.46_48delinsCAA p.A16Q Missense 1/7 - 1
12-109535530-GC-CG c.46_47delinsCG p.A16R Missense 1/7 - 1
12-109535530-GC-CT c.46_47delinsCT p.A16L Missense 1/7 - 1
12-109535530-GCC-TAA c.46_48delinsTAA p.A16* Nonsense 1/7 - 4
12-109535530-GC-TA c.46_47delinsTA p.A16Y Missense 1/7 - 1
12-109535530-GC-TT c.46_47delinsTT p.A16F Missense 1/7 - 1
12-109535531-CC-AG c.47_48delinsAG p.A16E Missense 1/7 - 1
12-109535531-C-T c.47C>T p.A16V Missense 1/7 - 1
12-109535533-AGG-GAC c.49_51delinsGAC p.R17D Missense 1/7 - 1
12-109535534-G-A c.50G>A p.R17K Missense 1/7 - 2
12-109535536-AA-GC c.52_53delinsGC p.K18A Missense 1/7 - 1
12-109535537-A-C c.53A>C p.K18T Missense 1/7 - 1
12-109535545-G-T c.61G>T p.A21S Missense 1/7 - 1
12-109535546-C-G c.62C>G p.A21G Missense 1/7 - 2
12-109535547-C-A c.63C>A p.A21= Synonymous 1/7 - 2
12-109535547-C-G c.63C>G p.A21= Synonymous 1/7 - 2
12-109535547-C-T c.63C>T p.A21= Synonymous 1/7 - 2
12-109535548-C-G c.64C>G p.P22A Missense 1/7 - 1
12-109535549-C-A c.65C>A p.P22H Missense 1/7 - 1
12-109535549-C-T c.65C>T p.P22L Missense 1/7 - 1
12-109535551-AG-CC c.67_68delinsCC p.S23P Missense 1/7 - 1
12-109535551-AG-GA c.67_68delinsGA p.S23D Missense 1/7 - 1
12-109535551-AG-GC c.67_68delinsGC p.S23A Missense 1/7 - 2
12-109535553-C-T c.69C>T p.S23= Synonymous 1/7 - 1
12-109535554-C-G c.70C>G p.P24A Missense 1/7 - 1
12-109535554-C-T c.70C>T p.P24S Missense 1/7 - 1
12-109535555-CC-AA c.71_72delinsAA p.P24Q Missense 1/7 - 1
12-109535557-G-A c.73G>A p.E25K Missense 1/7 - 2
12-109535560-C-T c.76C>T p.P26S Missense 1/7 - 4
12-109535563-GC-AA c.79_80delinsAA p.A27N Missense 1/7 - 1
12-109535563-GC-CT c.79_80delinsCT p.A27L Missense 1/7 - 3
12-109535564-C-A c.80C>A p.A27D Missense 1/7 - 1
12-109535564-C-G c.80C>G p.A27G Missense 1/7 - 2
12-109535565-C-A c.81C>A p.A27= Synonymous 1/7 - 1
12-109535565-C-T c.81C>T p.A27= Synonymous 1/7 - 1
12-109535569-C-T c.85C>T p.Q29* Nonsense 1/7 - 2
12-109535570-A-C c.86A>C p.Q29P Missense 1/7 - 1
12-109535572-G-A c.88G>A p.G30R Missense 1/7 - 2
12-109535573-GG-AC c.89_90delinsAC p.G30D Missense 1/7 - 1
12-109535575-A-G c.91A>G p.T31A Missense 1/7 - 1
12-109535578-GG-CC c.94_95inv p.G32P Missense 1/7 - 2
12-109535584-G-A c.100G>A p.A34T Missense 1/7 - 2
12-109535584-GC-CG c.100_101delinsCG p.A34R Missense 1/7 - 1
12-109535584-GC-TT c.100_101delinsTT p.A34F Missense 1/7 - 1
12-109535591-T-C c.107T>C p.V36A Missense 1/7 - 1
12-109535592-G-T c.108G>T p.V36= Synonymous 1/7 - 1
12-109535596-G-C c.112G>C p.E38Q Missense 1/7 - 1
12-109535597-A-C c.113A>C p.E38A Missense 1/7 - 1
12-109535600-A-C c.116A>C p.E39A Missense 1/7 - 1
12-109535602-AG-GC c.118_119delinsGC p.S40A Missense 1/7 - 1
12-109535604-C-T c.120C>T p.S40= Synonymous 1/7 - 1
12-109535605-GG-CT c.121_122delinsCT p.G41L Missense 1/7 - 1
12-109535606-G-A c.122G>A p.G41E Missense 1/7 - 1
12-109535606-G-C c.122G>C p.G41A Missense 1/7 - 1
12-109535606-G-T c.122G>T p.G41V Missense 1/7 - 1
12-109535607-A-C c.123A>C p.G41= Synonymous 1/7 - 1
12-109535607-A-G c.123A>G p.G41= Synonymous 1/7 - 1
12-109535607-A-T c.123A>T p.G41= Synonymous 1/7 - 1
12-109535608-GA-AC c.124_125delinsAC p.D42T Missense 1/7 - 1
12-109535612-C-A c.128C>A p.A43E Missense 1/7 - 1
12-109535614-GC-CT c.130_131delinsCT p.A44L Missense 1/7 - 2
12-109535614-GCG-TTT c.130_132delinsTTT p.A44F Missense 1/7 - 1
12-109535809-A-G c.132+193A>G - IntronicSNV - 1/6 2
12-109535857-T-A c.132+241T>A - IntronicSNV - 1/6 5
12-109535857-T-G c.132+241T>G - IntronicSNV - 1/6 5
12-109535962-G-A c.133-275G>A - IntronicSNV - 1/6 1
12-109535983-G-C c.133-254G>C - IntronicSNV - 1/6 1
12-109536016-C-T c.133-221C>T - IntronicSNV - 1/6 3
12-109536178-G-A c.133-59G>A - IntronicSNV - 1/6 1
12-109536189-A-G c.133-48A>G - IntronicSNV - 1/6 1
12-109536237-GC-CA c.133_134delinsCA p.A45H Missense 2/7 - 1
12-109536237-GC-CG c.133_134delinsCG p.A45R Missense 2/7 - 1
12-109536237-GC-TT c.133_134delinsTT p.A45F Missense 2/7 - 1
12-109536237-G-T c.133G>T p.A45S Missense 2/7 - 1
12-109536239-C-A c.135C>A p.A45= Synonymous 2/7 - 1
12-109536239-C-G c.135C>G p.A45= Synonymous 2/7 - 1
12-109536239-C-T c.135C>T p.A45= Synonymous 2/7 - 1
12-109536240-AT-GC c.136_137delinsGC p.I46A Missense 2/7 - 1
12-109536242-C-T c.138C>T p.I46= Synonymous 2/7 - 3
12-109536243-C-T c.139C>T p.P47S Missense 2/7 - 1
12-109536246-G-A c.142G>A p.A48T Missense 2/7 - 1
12-109536246-GC-TT c.142_143delinsTT p.A48F Missense 2/7 - 1
12-109536248-C-A c.144C>A p.A48= Synonymous 2/7 - 1
12-109536248-C-G c.144C>G p.A48= Synonymous 2/7 - 1
12-109536248-C-T c.144C>T p.A48= Synonymous 2/7 - 1
12-109536249-AA-GC c.145_146delinsGC p.K49A Missense 2/7 - 1
12-109536250-A-G c.146A>G p.K49R Missense 2/7 - 2
12-109536251-G-C c.147G>C p.K49N Missense 2/7 - 4
12-109536251-G-T c.147G>T p.K49N Missense 2/7 - 3
12-109536252-A-G c.148A>G p.K50E Missense 2/7 - 1
12-109536253-A-G c.149A>G p.K50R Missense 2/7 - 2
12-109536255-GC-CG c.151_152delinsCG p.A51R Missense 2/7 - 1
12-109536256-C-T c.152C>T p.A51V Missense 2/7 - 1
12-109536257-C-T c.153C>T p.A51= Synonymous 2/7 - 1
12-109536259-C-T c.155C>T p.P52L Missense 2/7 - 1
12-109536260-G-A c.156G>A p.P52= Synonymous 2/7 - 1
12-109536260-G-C c.156G>C p.P52= Synonymous 2/7 - 1
12-109536260-G-T c.156G>T p.P52= Synonymous 2/7 - 1
12-109536261-G-A c.157G>A p.A53T Missense 2/7 - 4
12-109536262-C-A c.158C>A p.A53D Missense 2/7 - 1
12-109536265-GG-AC c.161_162delinsAC p.G54D Missense 2/7 - 1
12-109536268-A-G c.164A>G p.Q55R Missense 2/7 - 1
12-109536270-G-A c.166G>A p.E56K Missense 2/7 - 1
12-109536270-G-C c.166G>C p.E56Q Missense 2/7 - 2
12-109536271-A-C c.167A>C p.E56A Missense 2/7 - 1
12-109536273-GAG-TTT c.169_171delinsTTT p.E57F Missense 2/7 - 1
12-109536274-A-C c.170A>C p.E57A Missense 2/7 - 1
12-109536279-G-A c.175G>A p.G59R Missense 2/7 - 2
12-109536279-G-C c.175G>C p.G59R Missense 2/7 - 2
12-109536282-ACG-GAC c.178_180delinsGAC p.T60D Missense 2/7 - 1
12-109536282-A-G c.178A>G p.T60A Missense 2/7 - 2
12-109536284-G-A c.180G>A p.T60= Synonymous 2/7 - 1
12-109536284-G-C c.180G>C p.T60= Synonymous 2/7 - 1
12-109536284-G-T c.180G>T p.T60= Synonymous 2/7 - 1
12-109536287-G-A c.183G>A p.P61= Synonymous 2/7 - 2
12-109536287-G-C c.183G>C p.P61= Synonymous 2/7 - 1
12-109536287-G-T c.183G>T p.P61= Synonymous 2/7 - 1
12-109536291-T-A c.187T>A p.S63T Missense 2/7 - 1
12-109536291-T-G c.187T>G p.S63A Missense 2/7 - 2
12-109536292-C-A c.188C>A p.S63Y Missense 2/7 - 1
12-109536294-TCG-GAC c.190_192delinsGAC p.S64D Missense 2/7 - 2
12-109536294-T-G c.190T>G p.S64A Missense 2/7 - 1
12-109536295-C-G c.191C>G p.S64W Missense 2/7 - 2
12-109536298-C-T c.194C>T p.P65L Missense 2/7 - 2
12-109536300-C-T c.196C>T p.L66= Synonymous 2/7 - 1
12-109536302-G-A c.198G>A p.L66= Synonymous 2/7 - 1
12-109536302-G-C c.198G>C p.L66= Synonymous 2/7 - 1
12-109536302-G-T c.198G>T p.L66= Synonymous 2/7 - 1
12-109536303-A-G c.199A>G p.S67G Missense 2/7 - 1
12-109536307-C-A c.203C>A p.A68D Missense 2/7 - 1
12-109536308-C-A c.204C>A p.A68= Synonymous 2/7 - 2
12-109536308-C-G c.204C>G p.A68= Synonymous 2/7 - 1
12-109536308-C-T c.204C>T p.A68= Synonymous 2/7 - 1
12-109536309-G-A c.205G>A p.E69K Missense 2/7 - 1
12-109536312-C-G c.208C>G p.Q70E Missense 2/7 - 1
12-109536313-A-T c.209A>T p.Q70L Missense 2/7 - 1
12-109536316-T-A c.212T>A p.L71* Nonsense 2/7 - 1
12-109536321-C-G c.217C>G p.R73G Missense 2/7 - 1
12-109536324-A-G c.220A>G p.I74V Missense 2/7 - 1
12-109536333-A-G c.229A>G p.N77D Missense 2/7 - 1
12-109536333-A-T c.229A>T p.N77Y Missense 2/7 - 2
12-109536335-C-A c.231C>A p.N77K Missense 2/7 - 1
12-109536335-C-G c.231C>G p.N77K Missense 2/7 - 2
12-109536340-C-T c.236C>T p.A79V Missense 2/7 - 1
12-109536344-G-A c.240G>A p.A80= Synonymous 2/7 - 1
12-109536344-G-C c.240G>C p.A80= Synonymous 2/7 - 1
12-109536344-G-T c.240G>T p.A80= Synonymous 2/7 - 1
12-109536345-GCC-ATG c.241_243delinsATG p.A81M Missense 2/7 - 1
12-109536349-T-C c.245T>C p.L82P Missense 2/7 - 1
12-109536353-C-G c.249C>G p.L83= Synonymous 2/7 - 1
12-109536354-AGA-CAT c.250_252delinsCAT p.R84H Missense 2/7 - 1
12-109536354-AGA-GAC c.250_252delinsGAC p.R84D Missense 2/7 - 1
12-109536355-G-C c.251G>C p.R84T Missense 2/7 - 1
12-109536357-C-T c.253C>T p.L85F Missense 2/7 - 1
12-109536360-GC-AT c.256_257delinsAT p.A86M Missense 2/7 - 1
12-109536364-C-A c.260C>A p.A87D Missense 2/7 - 2
12-109536366-CGC-AAG c.262_264delinsAAG p.R88K Missense 2/7 - 1
12-109536366-CGC-GAG c.262_264delinsGAG p.R88E Missense 2/7 - 1
12-109536366-CG-GC c.262_263delinsGC p.R88A Missense 2/7 - 1
12-109536366-C-T c.262C>T p.R88C Missense 2/7 - 13
12-109536367-G-A c.263G>A p.R88H Missense 2/7 - 1
12-109536367-GC-AA c.263_264delinsAA p.R88Q Missense 2/7 - 1
12-109536368-C-T c.264C>T p.R88= Synonymous 2/7 - 1
12-109536369-AA-GC c.265_266delinsGC p.N89A Missense 2/7 - 1
12-109536369-A-G c.265A>G p.N89D Missense 2/7 - 1
12-109536371-C-T c.267C>T p.N89= Synonymous 2/7 - 1
12-109536372-G-A c.268G>A p.V90M Missense 2/7 - 1
12-109536372-GT-AG c.268_269delinsAG p.V90R Missense 2/7 - 1
12-109536372-GTG-ATC c.268_270delinsATC p.V90I Missense 2/7 - 1
12-109536374-G-GC c.273dup p.V92Rfs*51 Frameshift 2/7 - 1
12-109536382-G-C c.278G>C p.G93A Missense 2/7 - 9
12-109536384-T-A c.280T>A p.F94I Missense 2/7 - 1
12-109536384-TTT-GAG c.280_282delinsGAG p.F94E Missense 2/7 - 1
12-109536386-T-C c.282T>C p.F94= Synonymous 2/7 - 1
12-109536387-G-A c.283G>A p.G95R Missense 2/7 - 1
12-109536387-G-C c.283G>C p.G95R Missense 2/7 - 1
12-109536388-G-C c.284G>C p.G95A Missense 2/7 - 2
12-109536388-G-T c.284G>T p.G95V Missense 2/7 - 1
12-109536389-A-C c.285A>C p.G95= Synonymous 2/7 - 1
12-109536389-A-G c.285A>G p.G95= Synonymous 2/7 - 1
12-109536389-A-T c.285A>T p.G95= Synonymous 2/7 - 1
12-109536391-A-C c.287A>C p.E96A Missense 2/7 - 3
12-109536392-G-C c.288G>C p.E96D Missense 2/7 - 1
12-109536392-G-T c.288G>T p.E96D Missense 2/7 - 1
12-109536395-C-T c.291C>T p.S97= Synonymous 2/7 - 1
12-109536396-TG-GC c.292_293delinsGC p.W98A Missense 2/7 - 1
12-109536397-GG-AT c.293_294delinsAT p.W98Y Missense 2/7 - 1
12-109536400-A-T c.296A>T p.K99M Missense 2/7 - 2
12-109536402-AA-GC c.298_299delinsGC p.K100A Missense 2/7 - 1
12-109536405-CAC-TAA c.301_303delinsTAA p.H101* Nonsense 2/7 - 1
12-109536405-C-T c.301C>T p.H101Y Missense 2/7 - 1
12-109536411-AG-GC c.307_308delinsGC p.S103A Missense 2/7 - 1
12-109536413-GC-G c.309del p.S103Rfs*12 Frameshift 2/7 - 1
12-109536415-G-A c.311G>A p.G104E Missense 2/7 - 1
12-109536413-C-CG c.313dup p.E105Gfs*38 Frameshift 2/7 - 2
12-109536417-G-C c.313G>C p.E105Q Missense 2/7 - 1
12-109536418-A-C c.314A>C p.E105A Missense 2/7 - 3
12-109536419-G-C c.315G>C p.E105D Missense 2/7 - 2
12-109536419-G-T c.315G>T p.E105D Missense 2/7 - 3
12-109536421-T-C c.317T>C p.F106S Missense 2/7 - 1
12-109536423-G-A c.319G>A p.G107R Missense 2/7 - 1
12-109536423-GGG-AAC c.319_321delinsAAC p.G107N Missense 2/7 - 1
12-109536423-G-T c.319G>T p.G107W Missense 2/7 - 1
12-109536424-G-A c.320G>A p.G107E Missense 2/7 - 1
12-109536431-G-A c.327G>A p.P109= Synonymous 2/7 - 2
12-109536431-G-C c.327G>C p.P109= Synonymous 2/7 - 1
12-109536431-G-T c.327G>T p.P109= Synonymous 2/7 - 1
12-109536432-T-C c.328T>C p.Y110H Missense 2/7 - 1
12-109536435-T-C c.331T>C p.F111L Missense 2/7 - 1
12-109536435-TT-GC c.331_332delinsGC p.F111A Missense 2/7 - 2
12-109536441-AA-GC c.337_338delinsGC p.K113A Missense 2/7 - 2
12-109536441-A-G c.337A>G p.K113E Missense 2/7 - 1
12-109536442-A-G c.338A>G p.K113R Missense 2/7 - 1
12-109536559-A-C c.339+116A>C - IntronicSNV - 2/6 7
12-109537007-T-C c.353T>C p.V118A Missense 3/7 - 1
12-109537009-G-T c.355G>T p.A119S Missense 3/7 - 1
12-109537010-C-G c.356C>G p.A119G Missense 3/7 - 1
12-109537010-C-T c.356C>T p.A119V Missense 3/7 - 1
12-109537012-G-A c.358G>A p.E120K Missense 3/7 - 1
12-109537014-A-C c.360A>C p.E120D Missense 3/7 - 1
12-109537014-A-T c.360A>T p.E120D Missense 3/7 - 1
12-109537015-G-A c.361G>A p.E121K Missense 3/7 - 1
12-109537015-G-C c.361G>C p.E121Q Missense 3/7 - 2
12-109537018-A-G c.364A>G p.R122G Missense 3/7 - 1
12-109537018-AG-GC c.364_365delinsGC p.R122A Missense 3/7 - 1
12-109537019-G-A c.365G>A p.R122K Missense 3/7 - 1
12-109537023-G-C c.369G>C p.K123N Missense 3/7 - 1
12-109537023-G-T c.369G>T p.K123N Missense 3/7 - 1
12-109537027-T-A c.373T>A p.Y125N Missense 3/7 - 1
12-109537036-TA-GC c.382_383delinsGC p.Y128A Missense 3/7 - 2
12-109537036-T-C c.382T>C p.Y128H Missense 3/7 - 1
12-109537039-C-A c.385C>A p.P129T Missense 3/7 - 1
12-109537040-C-A c.386C>A p.P129Q Missense 3/7 - 3
12-109537042-C-T c.388C>T p.P130S Missense 3/7 - 1
12-109537045-C-T c.391C>T p.P131S Missense 3/7 - 1
12-109537041-AC-A c.392del p.P131Hfs*13 Frameshift 3/7 - 2
12-109537046-C-T c.392C>T p.P131L Missense 3/7 - 1
12-109537051-C-T c.397C>T p.Q133* Nonsense 3/7 - 4
12-109537052-A-C c.398A>C p.Q133P Missense 3/7 - 1
12-109537053-A-G c.399A>G p.Q133= Synonymous 3/7 - 1
12-109537054-G-A c.400G>A p.V134I Missense 3/7 - 1
12-109537059-C-T c.405C>T p.F135= Synonymous 3/7 - 1
12-109537061-C-T c.407C>T p.T136I Missense 3/7 - 1
12-109537062-C-A c.408C>A p.T136= Synonymous 3/7 - 2
12-109537062-C-G c.408C>G p.T136= Synonymous 3/7 - 2
12-109537062-C-T c.408C>T p.T136= Synonymous 3/7 - 2
12-109537064-G-A c.410G>A p.W137* Nonsense 3/7 - 1
12-109537065-G-A c.411G>A p.W137* Nonsense 3/7 - 1
12-109537066-A-G c.412A>G p.T138A Missense 3/7 - 2
12-109537069-C-T c.415C>T p.Q139* Nonsense 3/7 - 1
12-109537075-T-C c.421T>C p.C141R Missense 3/7 - 1
12-109537075-T-G c.421T>G p.C141G Missense 3/7 - 1
12-109537075-TG-GC c.421_422delinsGC p.C141A Missense 3/7 - 1
12-109537076-G-A c.422G>A p.C141Y Missense 3/7 - 1
12-109537077-T-G c.423T>G p.C141W Missense 3/7 - 1
12-109537079-A-C c.425A>C p.D142A Missense 3/7 - 1
12-109537081-A-G c.427A>G p.I143V Missense 3/7 - 1
12-109537087-G-A c.433G>A p.D145N Missense 3/7 - 13
12-109537089-T-A c.435T>A p.D145E Missense 3/7 - 2
12-109537089-T-G c.435T>G p.D145E Missense 3/7 - 2
12-109537090-G-GT c.435+2dup - IntronicInsertion - 3/6 1
12-109537423-T-TTA c.435+337_435+338dup - IntronicInsertion - 3/6 1
12-109537562-T-G c.435+473T>G - IntronicSNV - 3/6 1
12-109538235-A-G c.435+1146A>G - IntronicSNV - 3/6 1
12-109538763-C-G c.436-944C>G - IntronicSNV - 3/6 1
12-109538763-C-T c.436-944C>T - IntronicSNV - 3/6 1
12-109539707-GTG-ATC c.436_438delinsATC p.V146I Missense 4/7 - 1
12-109539713-G-A c.442G>A p.V148I Missense 4/7 - 1
12-109539715-T-A c.444T>A p.V148= Synonymous 4/7 - 1
12-109539726-G-A c.455G>A p.G152E Missense 4/7 - 1
12-109539731-G-A c.460G>A p.D154N Missense 4/7 - 2
12-109539735-C-T c.464C>T p.P155L Missense 4/7 - 1
12-109539737-T-C c.466T>C p.Y156H Missense 4/7 - 1
12-109539740-C-A c.469C>A p.H157N Missense 4/7 - 1
12-109539742-T-C c.471T>C p.H157= Synonymous 4/7 - 2
12-109539744-G-T c.473G>T p.G158V Missense 4/7 - 2
12-109539746-C-G c.475C>G p.P159A Missense 4/7 - 1
12-109539758-C-T c.487C>T p.H163Y Missense 4/7 - 2
12-109539760-C-A c.489C>A p.H163Q Missense 4/7 - 2
12-109539760-C-G c.489C>G p.H163Q Missense 4/7 - 2
12-109539761-G-A c.490G>A p.G164R Missense 4/7 - 4
12-109539761-G-C c.490G>C p.G164R Missense 4/7 - 3
12-109539767-TG-GC c.496_497delinsGC p.C166A Missense 4/7 - 1
12-109539768-G-T c.497G>T p.C166F Missense 4/7 - 1
12-109539773-AG-CT c.502_503inv p.S168L Missense 4/7 - 1
12-109539779-C-G c.508C>G p.Q170E Missense 4/7 - 1
12-109539780-A-G c.509A>G p.Q170R Missense 4/7 - 1
12-109539782-A-T c.511A>T p.R171W Missense 4/7 - 1
12-109539785-C-A c.514C>A p.P172T Missense 4/7 - 1
12-109539785-C-G c.514C>G p.P172A Missense 4/7 - 1
12-109539791-C-A c.520C>A p.P174T Missense 4/7 - 1
12-109539791-C-T c.520C>T p.P174S Missense 4/7 - 1
12-109539792-C-T c.521C>T p.P174L Missense 4/7 - 2
12-109539797-C-T c.526C>T p.P176S Missense 4/7 - 1
12-109539798-C-T c.527C>T p.P176L Missense 4/7 - 1
12-109539800-CCC-ATG c.529_531delinsATG p.P177M Missense 4/7 - 1
12-109539801-C-G c.530C>G p.P177R Missense 4/7 - 1
12-109539803-AG-CC c.532_533delinsCC p.S178P Missense 4/7 - 1
12-109539803-AG-TA c.532_533delinsTA p.S178Y Missense 4/7 - 1
12-109539803-AG-TT c.532_533delinsTT p.S178F Missense 4/7 - 2
12-109539803-A-T c.532A>T p.S178C Missense 4/7 - 1
12-109539810-G-A c.533+6G>A - IntronicSNV - 4/6 3
12-109539818-A-G c.533+14A>G - IntronicSNV - 4/6 1
12-109540613-G-GT c.534-25dup - IntronicInsertion - 4/6 7
12-109540645-TT-CC c.535_536delinsCC p.L179P Missense 5/7 - 1
12-109540648-G-T c.538G>T p.E180* Nonsense 5/7 - 1
12-109540654-A-G c.544A>G p.I182V Missense 5/7 - 2
12-109540658-A-T c.548A>T p.Y183F Missense 5/7 - 1
12-109540659-T-C c.549T>C p.Y183= Synonymous 5/7 - 1
12-109540669-T-C c.559T>C p.S187P Missense 5/7 - 3
12-109540670-C-T c.560C>T p.S187F Missense 5/7 - 2
12-109540672-A-C c.562A>C p.T188P Missense 5/7 - 1
12-109540673-C-T c.563C>T p.T188I Missense 5/7 - 3
12-109540675-G-A c.565G>A p.D189N Missense 5/7 - 1
12-109540675-G-T c.565G>T p.D189Y Missense 5/7 - 1
12-109540676-A-C c.566A>C p.D189A Missense 5/7 - 1
12-109540678-ATA-TTT c.568_570delinsTTT p.I190F Missense 5/7 - 1
12-109540684-G-A c.574G>A p.D192N Missense 5/7 - 1
12-109540685-A-C c.575A>C p.D192A Missense 5/7 - 1
12-109540687-T-C c.577T>C p.F193L Missense 5/7 - 2
12-109540689-T-A c.579T>A p.F193L Missense 5/7 - 2
12-109540689-T-G c.579T>G p.F193L Missense 5/7 - 2
12-109540693-C-T c.583C>T p.H195Y Missense 5/7 - 5
12-109540696-C-A c.586C>A p.P196T Missense 5/7 - 2
12-109540702-C-T c.592C>T p.H198Y Missense 5/7 - 1
12-109540703-A-G c.593A>G p.H198R Missense 5/7 - 2
12-109540705-GGA-AGC c.595_597delinsAGC p.G199S Missense 5/7 - 1
12-109540706-G-T c.596G>T p.G199V Missense 5/7 - 2
12-109540708-G-A c.598G>A p.D200N Missense 5/7 - 5
12-109540708-GA-CG c.598_599delinsCG p.D200R Missense 5/7 - 1
12-109540718-G-C c.608G>C p.G203A Missense 5/7 - 1
12-109540721-G-A c.611G>A p.W204* Nonsense 5/7 - 1
12-109540722-G-T c.612G>T p.W204C Missense 5/7 - 1
12-109540723-G-A c.613G>A p.A205T Missense 5/7 - 1
12-109540724-C-T c.614C>T p.A205V Missense 5/7 - 1
12-109540726-AA-GC c.616_617delinsGC p.K206A Missense 5/7 - 1
12-109540729-C-G c.619C>G p.Q207E Missense 5/7 - 1
12-109540730-A-C c.620A>C p.Q207P Missense 5/7 - 1
12-109540735-A-G c.622+3A>G - IntronicSNV - 5/6 1
12-109540742-C-A c.622+10C>A - IntronicSNV - 5/6 1
12-109540742-C-T c.622+10C>T - IntronicSNV - 5/6 1
12-109540752-AT-A c.622+42del - IntronicDeletion - 5/6 1
12-109540775-G-T c.622+43G>T - IntronicSNV - 5/6 1
12-109541171-T-C c.623-67T>C - IntronicSNV - 5/6 7
12-109541240-G-A c.625G>A p.V209I Missense 6/7 - 1
12-109541243-C-A c.628C>A p.L210I Missense 6/7 - 1
12-109541243-CTC-TGG c.628_630delinsTGG p.L210W Missense 6/7 - 2
12-109541242-TCTC-T c.630_632del p.L212del InFrameDeletion 6/7 - 1
12-109541249-C-G c.634C>G p.L212V Missense 6/7 - 1
12-109541255-G-A c.640G>A p.A214T Missense 6/7 - 4
12-109541256-C-G c.641C>G p.A214G Missense 6/7 - 1
12-109541265-C-T c.650C>T p.T217M Missense 6/7 - 1
12-109541270-C-T c.655C>T p.R219C Missense 6/7 - 5
12-109541276-C-T c.661C>T p.H221Y Missense 6/7 - 1
12-109541279-C-T c.664C>T p.Q222* Nonsense 6/7 - 2
12-109541282-G-A c.667G>A p.A223T Missense 6/7 - 1
12-109541284-C-CT c.669_670insT p.N224* Nonsense 6/7 - 1
12-109541286-A-G c.671A>G p.N224S Missense 6/7 - 1
12-109541289-C-T c.674C>T p.S225F Missense 6/7 - 1
12-109541294-A-C c.679A>C p.K227Q Missense 6/7 - 4
12-109541296-G-C c.681G>C p.K227N Missense 6/7 - 1
12-109541296-G-T c.681G>T p.K227N Missense 6/7 - 1
12-109541297-G-A c.682G>A p.E228K Missense 6/7 - 1
12-109541300-C-T c.685C>T p.R229* Nonsense 6/7 - 3
12-109541301-G-A c.686G>A p.R229Q Missense 6/7 - 2
12-109541303-G-C c.688G>C p.G230R Missense 6/7 - 1
12-109541306-TG-AA c.691_692delinsAA p.W231K Missense 6/7 - 1
12-109541306-TG-GC c.691_692delinsGC p.W231A Missense 6/7 - 3
12-109541309-G-A c.694G>A p.E232K Missense 6/7 - 2
12-109541315-TTC-CAA c.700_702delinsCAA p.F234Q Missense 6/7 - 1
12-109541315-TT-GG c.700_701delinsGG p.F234G Missense 6/7 - 1
12-109541317-C-T c.702C>T p.F234= Synonymous 6/7 - 2
12-109541336-T-A c.721T>A p.W241R Missense 6/7 - 1
12-109541336-T-C c.721T>C p.W241R Missense 6/7 - 2
12-109541339-CTA-TTT c.724_726delinsTTT p.L242F Missense 6/7 - 1
12-109541343-A-C c.728A>C p.N243T Missense 6/7 - 1
12-109541348-A-G c.733A>G p.N245D Missense 6/7 - 1
12-109541349-A-T c.734A>T p.N245I Missense 6/7 - 1
12-109541352-C-G c.737C>G p.S246W Missense 6/7 - 1
12-109541353-G-A c.738G>A p.S246= Synonymous 6/7 - 2
12-109541353-G-C c.738G>C p.S246= Synonymous 6/7 - 1
12-109541353-G-T c.738G>T p.S246= Synonymous 6/7 - 1
12-109541358-G-A c.743G>A p.G248D Missense 6/7 - 1
12-109541359-C-T c.744C>T p.G248= Synonymous 6/7 - 1
12-109541360-C-T c.745C>T p.L249F Missense 6/7 - 1
12-109541360-CT-AG c.745_746inv p.L249S Missense 6/7 - 1
12-109541360-CTT-ATG c.745_747delinsATG p.L249M Missense 6/7 - 1
12-109541367-T-C c.752T>C p.F251S Missense 6/7 - 7
12-109541373-T-G c.758T>G p.L253R Missense 6/7 - 1
12-109541374-C-G c.759C>G p.L253= Synonymous 6/7 - 1
12-109541374-C-T c.759C>T p.L253= Synonymous 6/7 - 1
12-109541381-TC-CG c.766_767delinsCG p.S256R Missense 6/7 - 1
12-109541382-C-G c.767C>G p.S256C Missense 6/7 - 1
12-109541384-T-C c.769T>C p.Y257H Missense 6/7 - 1
12-109541390-C-T c.775C>T p.Q259* Nonsense 6/7 - 2
12-109541395-G-GT c.780_781insT p.K261* Nonsense 6/7 - 1
12-109541390-CAGA-C c.781_783del p.K261del InFrameDeletion 6/7 - 1
12-109541397-A-C c.782A>C p.K261T Missense 6/7 - 1
12-109541398-G-A c.783G>A p.K261= Synonymous 6/7 - 1
12-109541402-A-G c.787A>G p.S263G Missense 6/7 - 1
12-109541402-AG-CT c.787_788inv p.S263L Missense 6/7 - 2
12-109541406-C-T c.791C>T p.A264V Missense 6/7 - 1
12-109541409-T-C c.794T>C p.I265T Missense 6/7 - 1
12-109541414-AG-CC c.799_800delinsCC p.R267P Missense 6/7 - 1
12-109541414-A-T c.799A>T p.R267W Missense 6/7 - 1
12-109541417-G-A c.801+1G>A - IntronicSNV - 6/6 1
12-109541419-A-G c.801+3A>G - IntronicSNV - 6/6 1
12-109542392-T-C c.801+976T>C - IntronicSNV - 6/6 2
12-109545951-A-G c.802-1683A>G - IntronicSNV - 6/6 1
12-109546886-T-G c.802-748T>G - IntronicSNV - 6/6 1
12-109546920-T-C c.802-714T>C - IntronicSNV - 6/6 1
12-109547060-A-G c.802-574A>G - IntronicSNV - 6/6 10
12-109547060-A-T c.802-574A>T - IntronicSNV - 6/6 10
12-109547288-G-A c.802-346G>A - IntronicSNV - 6/6 1
12-109547586-A-AAAAAAAT c.802-48_802-47insAAAAAAT - IntronicInsertion - 6/6 1
12-109547586-A-AAAAAAT c.802-48_802-47insAAAAAT - IntronicInsertion - 6/6 1
12-109547586-A-AAAAAT c.802-48_802-47insAAAAT - IntronicInsertion - 6/6 1
12-109547586-A-AAAAT c.802-48_802-47insAAAT - IntronicInsertion - 6/6 1
12-109547586-A-AAAATT c.802-48_802-47insAAATT - IntronicInsertion - 6/6 1
12-109547586-A-AAAT c.802-48_802-47insAAT - IntronicInsertion - 6/6 1
12-109547586-A-AAATT c.802-48_802-47insAATT - IntronicInsertion - 6/6 1
12-109547586-A-AAT c.802-48_802-47insAT - IntronicInsertion - 6/6 1
12-109547586-A-T c.802-48A>T - IntronicSNV - 6/6 4
12-109547637-C-A c.805C>A p.R269= Synonymous 7/7 - 1
12-109547637-CG-AC c.805_806delinsAC p.R269T Missense 7/7 - 1
12-109547637-CG-GC c.805_806delinsGC p.R269A Missense 7/7 - 1
12-109547637-C-T c.805C>T p.R269W Missense 7/7 - 11
12-109547638-G-A c.806G>A p.R269Q Missense 7/7 - 2
12-109547641-A-T c.809A>T p.H270L Missense 7/7 - 1
12-109547646-GTA-ATG c.814_816delinsATG p.V272M Missense 7/7 - 1
12-109547647-T-C c.815T>C p.V272A Missense 7/7 - 1
12-109547647-T-G c.815T>G p.V272G Missense 7/7 - 2
12-109547650-T-A c.818T>A p.L273Q Missense 7/7 - 1
12-109547654-G-A c.822G>A p.Q274= Synonymous 7/7 - 2
12-109547656-C-T c.824C>T p.T275M Missense 7/7 - 1
12-109547658-G-T c.826G>T p.A276S Missense 7/7 - 1
12-109547661-C-A c.829C>A p.H277N Missense 7/7 - 1
12-109547661-CA-GC c.829_830delinsGC p.H277A Missense 7/7 - 1
12-109547662-A-G c.830A>G p.H277R Missense 7/7 - 1
12-109547664-C-T c.832C>T p.P278S Missense 7/7 - 4
12-109547667-T-C c.835T>C p.S279P Missense 7/7 - 1
12-109547668-C-T c.836C>T p.S279F Missense 7/7 - 2
12-109547670-C-T c.838C>T p.P280S Missense 7/7 - 1
12-109547673-T-C c.841T>C p.L281= Synonymous 7/7 - 1
12-109547675-G-A c.843G>A p.L281= Synonymous 7/7 - 1
12-109547675-G-T c.843G>T p.L281F Missense 7/7 - 2
12-109547676-T-G c.844T>G p.S282A Missense 7/7 - 1
12-109547680-T-G c.848T>G p.V283G Missense 7/7 - 1
12-109547697-G-A c.865G>A p.G289R Missense 7/7 - 1
12-109547697-G-T c.865G>T p.G289* Nonsense 7/7 - 1
12-109547700-T-G c.868T>G p.C290G Missense 7/7 - 2
12-109547700-TG-GC c.868_869delinsGC p.C290A Missense 7/7 - 1
12-109547711-T-A c.879T>A p.F293L Missense 7/7 - 1
12-109547717-G-A c.885G>A p.K295= Synonymous 7/7 - 1
12-109547719-CC-GG c.887_888inv p.T296R Missense 7/7 - 1
12-109547722-A-G c.890A>G p.N297S Missense 7/7 - 1
12-109547726-G-C c.894G>C p.E298D Missense 7/7 - 1
12-109547726-G-T c.894G>T p.E298D Missense 7/7 - 2
12-109547742-G-A c.910G>A p.G304S Missense 7/7 - 1
12-109547743-G-A c.911G>A p.G304D Missense 7/7 - 2
12-109547743-G-C c.911G>C p.G304A Missense 7/7 - 1
12-109547747-G-T c.915G>T p.K305N Missense 7/7 - 1
12-109547757-G-A c.925G>A p.D309N Missense 7/7 - 1
12-109547815-G-A c.*41G>A - 3-UTRSNV 7/7 - 1
12-109548237-C-T c.*463C>T - 3-UTRSNV 7/7 - 1