PTS

PTS 6-pyruvoyltetrahydropterin synthase

Annotation transcript: NM_000317.3

375 unique variant annotations were identified in 431 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
11-112097167-A-G c.1A>G p.M1? Missense 1/6 - 1
11-112097168-T-A c.2T>A p.M1? Missense 1/6 - 1
11-112097169-G-A c.3G>A p.M1? Missense 1/6 - 1
11-112097170-A-C c.4A>C p.S2R Missense 1/6 - 1
11-112097170-AG-GC c.4_5delinsGC p.S2A Missense 1/6 - 1
11-112097172-C-T c.6C>T p.S2= Synonymous 1/6 - 2
11-112097174-AC-A c.8del p.T3Rfs*29 Frameshift 1/6 - 1
11-112097175-G-A c.9G>A p.T3= Synonymous 1/6 - 2
11-112097175-G-C c.9G>C p.T3= Synonymous 1/6 - 2
11-112097175-G-T c.9G>T p.T3= Synonymous 1/6 - 2
11-112097176-G-A c.10G>A p.E4K Missense 1/6 - 1
11-112097178-A-G c.12A>G p.E4= Synonymous 1/6 - 2
11-112097183-G-T c.17G>T p.G6V Missense 1/6 - 1
11-112097192-G-A c.26G>A p.R9H Missense 1/6 - 1
11-112097194-T-A c.28T>A p.C10S Missense 1/6 - 7
11-112097194-TG-CT c.28_29delinsCT p.C10L Missense 1/6 - 1
11-112097194-TG-GC c.28_29delinsGC p.C10A Missense 1/6 - 3
11-112097195-G-C c.29G>C p.C10S Missense 1/6 - 7
11-112097196-C-T c.30C>T p.C10= Synonymous 1/6 - 2
11-112097201-C-G c.35C>G p.A12G Missense 1/6 - 1
11-112097201-C-T c.35C>T p.A12V Missense 1/6 - 1
11-112097203-C-T c.37C>T p.Q13* Nonsense 1/6 - 1
11-112097206-GTG-ATC c.40_42delinsATC p.V14I Missense 1/6 - 1
11-112097207-T-C c.41T>C p.V14A Missense 1/6 - 1
11-112097208-G-A c.42G>A p.V14= Synonymous 1/6 - 1
11-112097209-T-C c.43T>C p.S15P Missense 1/6 - 5
11-112097209-TCC-GAG c.43_45delinsGAG p.S15E Missense 1/6 - 2
11-112097209-TC-GA c.43_44inv p.S15D Missense 1/6 - 1
11-112097209-T-G c.43T>G p.S15A Missense 1/6 - 5
11-112097210-C-G c.44C>G p.S15C Missense 1/6 - 2
11-112097210-C-T c.44C>T p.S15F Missense 1/6 - 1
11-112097212-C-T c.46C>T p.R16C Missense 1/6 - 8
11-112097213-G-A c.47G>A p.R16H Missense 1/6 - 1
11-112097215-CG-AC c.49_50delinsAC p.R17T Missense 1/6 - 1
11-112097215-CG-GC c.49_50delinsGC p.R17A Missense 1/6 - 1
11-112097221-T-C c.55T>C p.S19P Missense 1/6 - 7
11-112097221-TCC-GAG c.55_57delinsGAG p.S19E Missense 1/6 - 1
11-112097221-T-G c.55T>G p.S19A Missense 1/6 - 1
11-112097222-C-G c.56C>G p.S19C Missense 1/6 - 1
11-112097222-C-T c.56C>T p.S19F Missense 1/6 - 1
11-112097224-T-C c.58T>C p.F20L Missense 1/6 - 3
11-112097226-C-A c.60C>A p.F20L Missense 1/6 - 1
11-112097226-C-G c.60C>G p.F20L Missense 1/6 - 1
11-112097227-AG-CC c.61_62delinsCC p.S21P Missense 1/6 - 4
11-112097227-AGC-GAG c.61_63delinsGAG p.S21E Missense 1/6 - 1
11-112097227-AG-GC c.61_62delinsGC p.S21A Missense 1/6 - 1
11-112097230-G-C c.64G>C p.A22P Missense 1/6 - 1
11-112097230-GCG-TTT c.64_66delinsTTT p.A22F Missense 1/6 - 1
11-112097231-C-G c.65C>G p.A22G Missense 1/6 - 1
11-112097231-CG-AC c.65_66delinsAC p.A22D Missense 1/6 - 1
11-112097233-AGC-GAG c.67_69delinsGAG p.S23E Missense 1/6 - 4
11-112097233-AG-GC c.67_68delinsGC p.S23A Missense 1/6 - 3
11-112097233-AG-TT c.67_68delinsTT p.S23F Missense 1/6 - 1
11-112097239-C-A c.73C>A p.R25= Synonymous 1/6 - 1
11-112097239-C-G c.73C>G p.R25G Missense 1/6 - 7
11-112097239-CG-AA c.73_74delinsAA p.R25K Missense 1/6 - 1
11-112097239-CG-GC c.73_74delinsGC p.R25A Missense 1/6 - 1
11-112097239-C-T c.73C>T p.R25* Nonsense 1/6 - 4
11-112097241-A-C c.75A>C p.R25= Synonymous 1/6 - 1
11-112097241-A-G c.75A>G p.R25= Synonymous 1/6 - 1
11-112097241-A-T c.75A>T p.R25= Synonymous 1/6 - 1
11-112097240-G-A c.74G>A p.R25Q Missense 1/6 - 5
11-112097240-G-T c.74G>T p.R25L Missense 1/6 - 1
11-112097240-G-GATA c.76_77insAAT p.R25_L26ins* InFrameInsertion 1/6 - 1
11-112097242-T-C c.76T>C p.L26= Synonymous 1/6 - 2
11-112097242-T-G c.76T>G p.L26V Missense 1/6 - 1
11-112097242-TT-GA c.76_77delinsGA p.L26E Missense 1/6 - 5
11-112097244-G-A c.78G>A p.L26= Synonymous 1/6 - 2
11-112097243-T-C c.77T>C p.L26S Missense 1/6 - 1
11-112097244-G-C c.78G>C p.L26F Missense 1/6 - 5
11-112097244-G-T c.78G>T p.L26F Missense 1/6 - 6
11-112097245-TA-CG c.79_80delinsCG p.Y27R Missense 1/6 - 1
11-112097245-T-C c.79T>C p.Y27H Missense 1/6 - 1
11-112097247-C-CA c.82dup p.S28Kfs*2 SpliceDonorInsertion 1/6 - 1
11-112097248-AG-CC c.82_83delinsCC p.S28P Missense 1/6 - 1
11-112097248-AG-GA c.82_83delinsGA p.S28D Missense 1/6 - 1
11-112097248-AG-GC c.82_83delinsGC p.S28A Missense 1/6 - 4
11-112097248-A-T c.82A>T p.S28C Missense 1/6 - 1
11-112097907-C-G c.83+658C>G - IntronicSNV - 1/5 1
11-112098007-T-A c.83+758T>A - IntronicSNV - 1/5 1
11-112099295-T-C c.84-22T>C - IntronicSNV - 1/5 1
11-112099315-AGTAAATTTCTAAGTGATGAAGAAAACTTGAAACTGTTTGGGAAATGCAACAATCCAAAT-A c.84_142del p.S28Rfs*7 Unclassified 2/6 - 1
11-112099317-T-C c.84T>C p.S28= Synonymous 2/6 - 1
11-112099318-AA-GC c.85_86delinsGC p.K29A Missense 2/6 - 1
11-112099319-A-C c.86A>C p.K29T Missense 2/6 - 1
11-112099320-A-T c.87A>T p.K29N Missense 2/6 - 1
11-112099324-C-A c.91C>A p.L31I Missense 2/6 - 2
11-112099324-C-G c.91C>G p.L31V Missense 2/6 - 5
11-112099324-CTA-ATG c.91_93delinsATG p.L31M Missense 2/6 - 1
11-112099324-CT-GA c.91_92delinsGA p.L31E Missense 2/6 - 1
11-112099325-T-C c.92T>C p.L31P Missense 2/6 - 6
11-112099324-C-T c.91C>T p.L31= Synonymous 2/6 - 3
11-112099326-A-C c.93A>C p.L31= Synonymous 2/6 - 3
11-112099326-A-G c.93A>G p.L31= Synonymous 2/6 - 3
11-112099326-A-T c.93A>T p.L31= Synonymous 2/6 - 3
11-112099327-A-G c.94A>G p.S32G Missense 2/6 - 1
11-112099327-AG-GA c.94_95delinsGA p.S32D Missense 2/6 - 1
11-112099327-AG-GC c.94_95delinsGC p.S32A Missense 2/6 - 2
11-112099327-AGT-TGA c.94_96delinsTGA p.S32* Nonsense 2/6 - 1
11-112099328-G-A c.95G>A p.S32N Missense 2/6 - 1
11-112099331-A-G c.98A>G p.D33G Missense 2/6 - 1
11-112099333-G-A c.100G>A p.E34K Missense 2/6 - 1
11-112099333-GAA-TGT c.100_102delinsTGT p.E34C Missense 2/6 - 1
11-112099333-G-C c.100G>C p.E34Q Missense 2/6 - 1
11-112099333-G-T c.100G>T p.E34* Nonsense 2/6 - 1
11-112099334-A-G c.101A>G p.E34G Missense 2/6 - 1
11-112099336-G-A c.103G>A p.E35K Missense 2/6 - 3
11-112099336-G-T c.103G>T p.E35* Nonsense 2/6 - 1
11-112099337-A-G c.104A>G p.E35G Missense 2/6 - 2
11-112099338-A-C c.105A>C p.E35D Missense 2/6 - 1
11-112099338-A-T c.105A>T p.E35D Missense 2/6 - 1
11-112099341-C-A c.108C>A p.N36K Missense 2/6 - 3
11-112099341-C-G c.108C>G p.N36K Missense 2/6 - 3
11-112099342-TT-GA c.109_110delinsGA p.L37E Missense 2/6 - 1
11-112099342-TT-GC c.109_110delinsGC p.L37A Missense 2/6 - 1
11-112099344-G-T c.111G>T p.L37F Missense 2/6 - 1
11-112099345-A-G c.112A>G p.K38E Missense 2/6 - 2
11-112099346-A-G c.113A>G p.K38R Missense 2/6 - 1
11-112099348-CT-GA c.115_116delinsGA p.L39E Missense 2/6 - 1
11-112099348-CTG-ATC c.115_117delinsATC p.L39I Missense 2/6 - 1
11-112099350-G-T c.117G>T p.L39= Synonymous 2/6 - 1
11-112099348-CTGTT-C c.118_121del p.F40Gfs*17 Frameshift 2/6 - 5
11-112099351-TTT-ATG c.118_120delinsATG p.F40M Missense 2/6 - 1
11-112099353-T-G c.120T>G p.F40L Missense 2/6 - 1
11-112099354-G-A c.121G>A p.G41R Missense 2/6 - 1
11-112099354-G-C c.121G>C p.G41R Missense 2/6 - 1
11-112099354-GGG-TGT c.121_123delinsTGT p.G41C Missense 2/6 - 1
11-112099355-G-A c.122G>A p.G41E Missense 2/6 - 1
11-112099356-G-A c.123G>A p.G41= Synonymous 2/6 - 1
11-112099356-G-C c.123G>C p.G41= Synonymous 2/6 - 1
11-112099356-G-T c.123G>T p.G41= Synonymous 2/6 - 1
11-112099357-AAA-TAT c.124_126delinsTAT p.K42Y Missense 2/6 - 1
11-112099358-A-C c.125A>C p.K42T Missense 2/6 - 2
11-112099360-TG-GC c.127_128delinsGC p.C43A Missense 2/6 - 1
11-112099366-A-G c.133A>G p.N45D Missense 2/6 - 1
11-112099369-C-T c.136C>T p.P46S Missense 2/6 - 1
11-112099372-AA-GC c.139_140delinsGC p.N47A Missense 2/6 - 1
11-112099372-A-G c.139A>G p.N47D Missense 2/6 - 7
11-112099375-G-T c.142G>T p.G48C Missense 2/6 - 1
11-112099377-C-A c.144C>A p.G48= Synonymous 2/6 - 1
11-112099377-C-G c.144C>G p.G48= Synonymous 2/6 - 1
11-112099377-C-T c.144C>T p.G48= Synonymous 2/6 - 1
11-112099378-C-A c.145C>A p.H49N Missense 2/6 - 2
11-112099379-A-G c.146A>G p.H49R Missense 2/6 - 3
11-112099381-GG-CC c.148_149inv p.G50P Missense 2/6 - 1
11-112099382-G-A c.149G>A p.G50E Missense 2/6 - 2
11-112099385-A-G c.152A>G p.H51R Missense 2/6 - 1
11-112099386-C-A c.153C>A p.H51Q Missense 2/6 - 1
11-112099387-A-AC c.154_155insC p.N52Tfs*3 Frameshift 2/6 - 1
11-112099388-A-G c.155A>G p.N52S Missense 2/6 - 25
11-112099390-T-G c.157T>G p.Y53D Missense 2/6 - 1
11-112099391-A-G c.158A>G p.Y53C Missense 2/6 - 1
11-112099393-A-G c.160A>G p.K54E Missense 2/6 - 1
11-112099395-A-G c.162A>G p.K54= Synonymous 2/6 - 1
11-112099410-T-C c.163+14T>C - IntronicSNV - 2/5 8
11-112099928-T-TA c.163+541dup - IntronicInsertion - 2/5 1
11-112100091-TA-T c.163+698del - IntronicDeletion - 2/5 2
11-112100585-A-C c.164-346A>C - IntronicSNV - 2/5 1
11-112100615-C-T c.164-316C>T - IntronicSNV - 2/5 2
11-112100644-A-G c.164-287A>G - IntronicSNV - 2/5 2
11-112100683-C-T c.164-248C>T - IntronicSNV - 2/5 2
11-112100931-T-A c.164T>A p.V55D Missense 3/6 - 1
11-112100932-T-G c.165T>G p.V55= Synonymous 3/6 - 1
11-112100933-G-A c.166G>A p.V56M Missense 3/6 - 12
11-112100934-T-C c.167T>C p.V56A Missense 3/6 - 1
11-112100935-G-A c.168G>A p.V56= Synonymous 3/6 - 1
11-112100935-G-C c.168G>C p.V56= Synonymous 3/6 - 1
11-112100935-G-T c.168G>T p.V56= Synonymous 3/6 - 2
11-112100932-TGTG-T c.169_171del p.V57del InFrameDeletion 3/6 - 3
11-112100936-G-A c.169G>A p.V57M Missense 3/6 - 1
11-112100936-G-C c.169G>C p.V57L Missense 3/6 - 1
11-112100936-G-T c.169G>T p.V57L Missense 3/6 - 1
11-112100937-T-C c.170T>C p.V57A Missense 3/6 - 1
11-112100939-A-G c.172A>G p.T58A Missense 3/6 - 1
11-112100939-A-T c.172A>T p.T58S Missense 3/6 - 1
11-112100941-A-T c.174A>T p.T58= Synonymous 3/6 - 1
11-112100943-T-C c.176T>C p.V59A Missense 3/6 - 2
11-112100943-T-G c.176T>G p.V59G Missense 3/6 - 1
11-112100947-T-C c.180T>C p.H60= Synonymous 3/6 - 1
11-112100949-G-A c.182G>A p.G61E Missense 3/6 - 1
11-112100949-G-C c.182G>C p.G61A Missense 3/6 - 1
11-112100949-G-GA c.183dup p.E62Rfs*3 Frameshift 3/6 - 1
11-112100950-A-C c.183A>C p.G61= Synonymous 3/6 - 1
11-112100950-A-G c.183A>G p.G61= Synonymous 3/6 - 2
11-112100950-A-T c.183A>T p.G61= Synonymous 3/6 - 1
11-112100951-G-A c.184G>A p.E62K Missense 3/6 - 1
11-112100953-G-C c.186G>C p.E62D Missense 3/6 - 3
11-112100953-G-T c.186G>T p.E62D Missense 3/6 - 4
11-112100954-G-A c.186+1G>A - IntronicSNV - 3/5 4
11-112100954-G-T c.186+1G>T - IntronicSNV - 3/5 1
11-112101349-A-G c.187A>G p.I63V Missense 4/6 - 1
11-112101353-A-T c.191A>T p.D64V Missense 4/6 - 1
11-112101357-T-TATGACGATGGTG c.195_196insATGACGATGGTG p.P65_A66insMTMV InFrameInsertion 4/6 - 1
11-112101358-GC-TT c.196_197delinsTT p.A66F Missense 4/6 - 1
11-112101359-C-A c.197C>A p.A66D Missense 4/6 - 1
11-112101359-C-G c.197C>G p.A66G Missense 4/6 - 1
11-112101360-T-A c.198T>A p.A66= Synonymous 4/6 - 1
11-112101360-T-C c.198T>C p.A66= Synonymous 4/6 - 1
11-112101360-T-G c.198T>G p.A66= Synonymous 4/6 - 1
11-112101361-A-G c.199A>G p.T67A Missense 4/6 - 2
11-112101362-C-A c.200C>A p.T67K Missense 4/6 - 1
11-112101362-C-T c.200C>T p.T67M Missense 4/6 - 22
11-112101364-GGA-TGT c.202_204delinsTGT p.G68C Missense 4/6 - 1
11-112101362-CGGGAAT-C c.203_208del p.G68_M69del InFrameDeletion 4/6 - 1
11-112101365-GA-AC c.203_204delinsAC p.G68D Missense 4/6 - 1
11-112101365-G-C c.203G>C p.G68A Missense 4/6 - 2
11-112101369-G-A c.207G>A p.M69I Missense 4/6 - 1
11-112101370-G-A c.208G>A p.V70I Missense 4/6 - 1
11-112101371-T-A c.209T>A p.V70D Missense 4/6 - 2
11-112101373-A-G c.211A>G p.M71V Missense 4/6 - 1
11-112101374-T-G c.212T>G p.M71R Missense 4/6 - 1
11-112101375-G-A c.213G>A p.M71I Missense 4/6 - 1
11-112101375-G-C c.213G>C p.M71I Missense 4/6 - 1
11-112101375-G-T c.213G>T p.M71I Missense 4/6 - 1
11-112101376-AA-CT c.214_215delinsCT p.N72L Missense 4/6 - 1
11-112101376-A-G c.214A>G p.N72D Missense 4/6 - 1
11-112101378-T-A c.216T>A p.N72K Missense 4/6 - 2
11-112101379-C-A c.217C>A p.L73M Missense 4/6 - 1
11-112101382-G-A c.220G>A p.A74T Missense 4/6 - 1
11-112101383-C-A c.221C>A p.A74D Missense 4/6 - 1
11-112101384-T-A c.222T>A p.A74= Synonymous 4/6 - 1
11-112101384-T-C c.222T>C p.A74= Synonymous 4/6 - 1
11-112101384-T-G c.222T>G p.A74= Synonymous 4/6 - 1
11-112101385-G-A c.223G>A p.D75N Missense 4/6 - 2
11-112101385-G-T c.223G>T p.D75Y Missense 4/6 - 1
11-112101386-A-C c.224A>C p.D75A Missense 4/6 - 2
11-112101387-T-TA c.225_226insA p.L76Tfs*14 Frameshift 4/6 - 1
11-112101388-C-T c.226C>T p.L76F Missense 4/6 - 2
11-112101389-T-C c.227T>C p.L76P Missense 4/6 - 1
11-112101394-A-G c.232A>G p.K78E Missense 4/6 - 1
11-112101395-A-C c.233A>C p.K78T UnclassifiedSNV 4/6 - 1
11-112101396-A-G c.234A>G p.K78= Synonymous 4/6 - 1
11-112101397-TA-GG c.235_236delinsGG p.Y79G Missense 4/6 - 1
11-112101397-T-C c.235T>C p.Y79H Missense 4/6 - 1
11-112101400-A-G c.238A>G p.M80V Missense 4/6 - 4
11-112101401-T-A c.239T>A p.M80K Missense 4/6 - 1
11-112101402-G-A c.240G>A p.M80I Missense 4/6 - 1
11-112101402-G-C c.240G>C p.M80I Missense 4/6 - 1
11-112101402-G-T c.240G>T p.M80I Missense 4/6 - 3
11-112101404-A-C c.242A>C p.E81A Missense 4/6 - 2
11-112101404-A-T c.242A>T p.E81V Missense 4/6 - 1
11-112101405-G-A c.243G>A p.E81= Synonymous 4/6 - 3
11-112101407-T-C c.243+2T>C - IntronicSNV - 4/5 1
11-112101759-A-T c.243+354A>T - IntronicSNV - 4/5 1
11-112103886-G-A c.244G>A p.E82K Missense 5/6 - 1
11-112103886-G-C c.244G>C p.E82Q Missense 5/6 - 1
11-112103887-A-C c.245A>C p.E82A Missense 5/6 - 2
11-112103887-A-G c.245A>G p.E82G Missense 5/6 - 2
11-112103889-G-C c.247G>C p.A83P Missense 5/6 - 1
11-112103890-C-A c.248C>A p.A83E Missense 5/6 - 2
11-112103890-C-T c.248C>T p.A83V Missense 5/6 - 3
11-112103892-A-G c.250A>G p.I84V Missense 5/6 - 1
11-112103893-T-C c.251T>C p.I84T Missense 5/6 - 1
11-112103898-CAG-TAT c.256_258delinsTAT p.Q86Y Missense 5/6 - 1
11-112103899-A-G c.257A>G p.Q86R Missense 5/6 - 1
11-112103901-C-G c.259C>G p.P87A Missense 5/6 - 3
11-112103901-C-T c.259C>T p.P87S Missense 5/6 - 27
11-112103902-C-T c.260C>T p.P87L Missense 5/6 - 8
11-112103903-C-A c.261C>A p.P87= Synonymous 5/6 - 1
11-112103906-T-A c.264T>A p.L88= Synonymous 5/6 - 1
11-112103908-A-C c.266A>C p.D89A Missense 5/6 - 3
11-112103910-C-A c.268C>A p.H90N Missense 5/6 - 1
11-112103914-A-G c.272A>G p.K91R Missense 5/6 - 11
11-112103915-G-C c.273G>C p.K91N Missense 5/6 - 1
11-112103915-G-T c.273G>T p.K91N Missense 5/6 - 1
11-112103916-A-C c.274A>C p.N92H Missense 5/6 - 1
11-112103916-A-G c.274A>G p.N92D Missense 5/6 - 1
11-112103916-A-T c.274A>T p.N92Y Missense 5/6 - 1
11-112103918-T-A c.276T>A p.N92K Missense 5/6 - 1
11-112103919-C-A c.277C>A p.L93M Missense 5/6 - 2
11-112103919-C-T c.277C>T p.L93= Synonymous 5/6 - 1
11-112103919-CT-GA c.277_278delinsGA p.L93E Missense 5/6 - 1
11-112103922-G-A c.280G>A p.D94N Missense 5/6 - 2
11-112103923-A-G c.281A>G p.D94G Missense 5/6 - 3
11-112103924-T-G c.282T>G p.D94E Missense 5/6 - 1
11-112103928-G-A c.286G>A p.D96N Missense 5/6 - 20
11-112103929-A-G c.287A>G p.D96G Missense 5/6 - 1
11-112103930-T-A c.288T>A p.D96E Missense 5/6 - 1
11-112103930-T-G c.288T>G p.D96E Missense 5/6 - 1
11-112103931-G-A c.289G>A p.V97M Missense 5/6 - 2
11-112103934-C-T c.292C>T p.P98S Missense 5/6 - 1
11-112103938-A-G c.296A>G p.Y99C Missense 5/6 - 3
11-112103939-C-A c.297C>A p.Y99* Nonsense 5/6 - 4
11-112103940-T-G c.298T>G p.F100V Missense 5/6 - 2
11-112103943-G-A c.301G>A p.A101T Missense 5/6 - 1
11-112103944-C-G c.302C>G p.A101G Missense 5/6 - 1
11-112103944-C-T c.302C>T p.A101V Missense 5/6 - 1
11-112103945-A-C c.303A>C p.A101= Synonymous 5/6 - 1
11-112103945-A-G c.303A>G p.A101= Synonymous 5/6 - 1
11-112103945-A-T c.303A>T p.A101= Synonymous 5/6 - 1
11-112103949-GTG-ATC c.307_309delinsATC p.V103I Missense 5/6 - 1
11-112103950-T-C c.308T>C p.V103A Missense 5/6 - 3
11-112103956-G-A c.314G>A p.S105N Missense 5/6 - 2
11-112104156-A-G c.316A>G p.T106A Missense 6/6 - 1
11-112104157-C-G c.317C>G p.T106R Missense 6/6 - 1
11-112104157-CG-TC c.317_318delinsTC p.T106I Missense 6/6 - 1
11-112104157-C-T c.317C>T p.T106M Missense 6/6 - 18
11-112104158-G-A c.318G>A p.T106= Synonymous 6/6 - 3
11-112104160-CT-GG c.320_321delinsGG p.T107R Missense 6/6 - 1
11-112104163-A-C c.323A>C p.E108A Missense 6/6 - 2
11-112104163-A-G c.323A>G p.E108G Missense 6/6 - 1
11-112104162-G-GA c.326dup p.N109Kfs*21 Frameshift 6/6 - 1
11-112104166-A-G c.326A>G p.N109S Missense 6/6 - 1
11-112104169-T-G c.329T>G p.V110G Missense 6/6 - 1
11-112104171-G-A c.331G>A p.A111T Missense 6/6 - 2
11-112104171-G-T c.331G>T p.A111S Missense 6/6 - 1
11-112104174-G-T c.334G>T p.V112F Missense 6/6 - 1
11-112104175-T-C c.335T>C p.V112A Missense 6/6 - 1
11-112104176-T-A c.336T>A p.V112= Synonymous 6/6 - 1
11-112104176-T-C c.336T>C p.V112= Synonymous 6/6 - 1
11-112104176-T-G c.336T>G p.V112= Synonymous 6/6 - 2
11-112104178-A-G c.338A>G p.Y113C Missense 6/6 - 4
11-112104180-A-G c.340A>G p.I114V Missense 6/6 - 2
11-112104182-C-G c.342C>G p.I114M Missense 6/6 - 1
11-112104183-T-C c.343T>C p.W115R Missense 6/6 - 1
11-112104185-G-A c.345G>A p.W115* Nonsense 6/6 - 1
11-112104186-G-A c.346G>A p.D116N Missense 6/6 - 1
11-112104187-A-G c.347A>G p.D116G Missense 6/6 - 6
11-112104192-CT-AG c.352_353inv p.L118S Missense 6/6 - 1
11-112104195-C-T c.355C>T p.Q119* Nonsense 6/6 - 2
11-112104198-AAA-TGT c.358_360delinsTGT p.K120C Missense 6/6 - 2
11-112104199-A-G c.359A>G p.K120R Missense 6/6 - 1
11-112104200-A-C c.360A>C p.K120N Missense 6/6 - 2
11-112104200-A-T c.360A>T p.K120N Missense 6/6 - 1
11-112104202-TTC-T c.364_365del p.L122Sfs*7 Frameshift 6/6 - 1
11-112104204-C-T c.364C>T p.L122F Missense 6/6 - 1
11-112104205-T-C c.365T>C p.L122P Missense 6/6 - 1
11-112104206-T-A c.366T>A p.L122= Synonymous 6/6 - 1
11-112104206-T-C c.366T>C p.L122= Synonymous 6/6 - 1
11-112104206-T-G c.366T>G p.L122= Synonymous 6/6 - 1
11-112104207-C-T c.367C>T p.P123S Missense 6/6 - 3
11-112104208-C-T c.368C>T p.P123L Missense 6/6 - 1
11-112104210-G-C c.370G>C p.V124L Missense 6/6 - 4
11-112104210-G-T c.370G>T p.V124L Missense 6/6 - 8
11-112104212-A-C c.372A>C p.V124= Synonymous 6/6 - 1
11-112104212-A-G c.372A>G p.V124= Synonymous 6/6 - 1
11-112104212-A-T c.372A>T p.V124= Synonymous 6/6 - 1
11-112104213-G-A c.373G>A p.G125R Missense 6/6 - 3
11-112104213-G-C c.373G>C p.G125R Missense 6/6 - 1
11-112104216-GTT-ATG c.376_378delinsATG p.V126M Missense 6/6 - 1
11-112104217-T-C c.377T>C p.V126A Missense 6/6 - 1
11-112104219-C-A c.379C>A p.L127I Missense 6/6 - 1
11-112104219-C-G c.379C>G p.L127V Missense 6/6 - 2
11-112104219-C-T c.379C>T p.L127F Missense 6/6 - 9
11-112104219-TC-T c.379del p.L127Ffs*4 Frameshift 6/6 - 1
11-112104220-T-C c.380T>C p.L127P Missense 6/6 - 1
11-112104223-A-G c.383A>G p.Y128C Missense 6/6 - 1
11-112104225-A-C c.385A>C p.K129Q Missense 6/6 - 1
11-112104225-A-G c.385A>G p.K129E Missense 6/6 - 4
11-112104229-TA-AC c.389_390delinsAC p.V130D Missense 6/6 - 1
11-112104229-T-C c.389T>C p.V130A Missense 6/6 - 1
11-112104230-A-AT c.390_391insT p.K131* Nonsense 6/6 - 1
11-112104230-A-C c.390A>C p.V130= Synonymous 6/6 - 1
11-112104229-TA-T c.393del p.V132Yfs*19 Frameshift 6/6 - 3
11-112104233-A-C c.393A>C p.K131N Missense 6/6 - 1
11-112104233-A-T c.393A>T p.K131N Missense 6/6 - 1
11-112104234-GTA-TTT c.394_396delinsTTT p.V132F Missense 6/6 - 1
11-112104240-G-A c.400G>A p.E134K Missense 6/6 - 5
11-112104243-A-G c.403A>G p.T135A Missense 6/6 - 1
11-112104245-T-C c.405T>C p.T135= Synonymous 6/6 - 2
11-112104246-G-T c.406G>T p.D136Y Missense 6/6 - 1
11-112104247-A-G c.407A>G p.D136G Missense 6/6 - 3
11-112104247-A-T c.407A>T p.D136V Missense 6/6 - 5
11-112104249-AA-GC c.409_410delinsGC p.N137A Missense 6/6 - 4
11-112104251-T-C c.411T>C p.N137= Synonymous 6/6 - 1
11-112104252-A-C c.412A>C p.N138H Missense 6/6 - 1
11-112104251-TA-T c.413del p.N138Ifs*13 Frameshift 6/6 - 1
11-112104254-T-A c.414T>A p.N138K Missense 6/6 - 1
11-112104255-A-G c.415A>G p.I139V Missense 6/6 - 1
11-112104261-G-A c.421G>A p.V141I Missense 6/6 - 1
11-112104268-A-C c.428A>C p.K143T Missense 6/6 - 1
11-112104268-A-T c.428A>T p.K143I Missense 6/6 - 1
11-112104270-G-A c.430G>A p.G144R Missense 6/6 - 1
11-112104270-G-C c.430G>C p.G144R Missense 6/6 - 2
11-112104271-G-T c.431G>T p.G144V Missense 6/6 - 1