SERPINF1

SERPINF1 serpin family F member 1

Annotation transcript: NM_002615.7

580 unique variant annotations were identified in 429 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
17-1665424-G-A c.-9+17G>A - intron_variant - 1/7 3
17-1665603-G-A c.-9+196G>A - intron_variant - 1/7 3
17-1665706-C-A c.-9+299C>A - intron_variant - 1/7 1
17-1665706-C-G c.-9+299C>G - intron_variant - 1/7 1
17-1665706-C-T c.-9+299C>T - intron_variant - 1/7 1
17-1666097-A-C c.-9+690A>C - intron_variant - 1/7 1
17-1666097-A-G c.-9+690A>G - intron_variant - 1/7 1
17-1666132-C-T c.-9+725C>T - intron_variant - 1/7 2
17-1666218-A-G c.-9+811A>G - intron_variant - 1/7 1
17-1666218-A-T c.-9+811A>T - intron_variant - 1/7 1
17-1666253-C-T c.-9+846C>T - intron_variant - 1/7 1
17-1667674-C-G c.-9+2267C>G - intron_variant - 1/7 1
17-1667674-C-T c.-9+2267C>T - intron_variant - 1/7 1
17-1667724-G-A c.-9+2317G>A - intron_variant - 1/7 2
17-1667724-G-T c.-9+2317G>T - intron_variant - 1/7 2
17-1669861-T-TAAAATATAA c.-8-335_-8-334insAAATATAAA - IntronicInsertion - 1/7 1
17-1669861-T-TAAAATATAAATAA c.-8-335_-8-334insAAATATAAATAAA - IntronicInsertion - 1/7 1
17-1669861-T-TAAAATATAAATAAATAA c.-8-335_-8-334insAAATATAAATAAATAAA - IntronicInsertion - 1/7 1
17-1669861-T-TAAAATATAAATAAATAAATAA c.-8-335_-8-334insAAATATAAATAAATAAATAAA - IntronicInsertion - 1/7 1
17-1669861-T-TAAAATATAAATAAATAAATAAATAA c.-8-335_-8-334insAAATATAAATAAATAAATAAATAAA - IntronicInsertion - 1/7 1
17-1669861-T-TAAAATATAAATAAATAAATAAATAAATAA c.-8-335_-8-334insAAATATAAATAAATAAATAAATAAATAAA - IntronicInsertion - 1/7 1
17-1670197-G-GC c.-9+2dup - 5-UTRInsertion - 1/7 1
17-1670205-A-G c.1A>G p.M1? Missense 2/8 - 1
17-1670210-G-A c.6G>A p.Q2= Synonymous 2/8 - 2
17-1670212-C-A c.8C>A p.A3D Missense 2/8 - 1
17-1670212-C-T c.8C>T p.A3V Missense 2/8 - 2
17-1670220-C-A c.16C>A p.L6I Missense 2/8 - 1
17-1670222-A-G c.18A>G p.L6= Synonymous 2/8 - 1
17-1670224-T-A c.20T>A p.L7H Missense 2/8 - 1
17-1670225-C-A c.21C>A p.L7= Synonymous 2/8 - 1
17-1670226-C-A c.22C>A p.L8I Missense 2/8 - 1
17-1670233-T-G c.29T>G p.I10S Missense 2/8 - 1
17-1670236-G-A c.32G>A p.G11E Missense 2/8 - 1
17-1670238-GC-CT c.34_35delinsCT p.A12L Missense 2/8 - 1
17-1670238-GC-TT c.34_35delinsTT p.A12F Missense 2/8 - 1
17-1670241-CT-GC c.37_38delinsGC p.L13A Missense 2/8 - 1
17-1670246-C-G c.42C>G p.L14= Synonymous 2/8 - 1
17-1670247-G-A c.43G>A p.G15R Missense 2/8 - 2
17-1670247-G-C c.43G>C p.G15R Missense 2/8 - 2
17-1670256-AG-GC c.52_53delinsGC p.S18A Missense 2/8 - 1
17-1670259-T-C c.55T>C p.C19R Missense 2/8 - 1
17-1670268-C-A c.64C>A p.P22T Missense 2/8 - 1
17-1670269-C-T c.65C>T p.P22L Missense 2/8 - 1
17-1670270-T-A c.66T>A p.P22= Synonymous 2/8 - 1
17-1670270-T-C c.66T>C p.P22= Synonymous 2/8 - 1
17-1670270-T-G c.66T>G p.P22= Synonymous 2/8 - 1
17-1670271-G-T c.67G>T p.A23S Missense 2/8 - 1
17-1670272-C-G c.68C>G p.A23G Missense 2/8 - 1
17-1670274-AGC-GAG c.70_72delinsGAG p.S24E Missense 2/8 - 1
17-1670274-AG-GA c.70_71delinsGA p.S24D Missense 2/8 - 1
17-1670275-G-A c.71G>A p.S24N Missense 2/8 - 2
17-1670274-A-C c.70A>C p.S24R Missense 2/8 - 1
17-1670276-C-A c.72C>A p.S24R Missense 2/8 - 1
17-1670276-C-G c.72C>G p.S24R Missense 2/8 - 1
17-1670280-C-T c.76C>T p.P26S Missense 2/8 - 1
17-1670275-GC-G c.77del p.P26Rfs*26 Frameshift 2/8 - 1
17-1670275-G-GC c.77dup p.E27Gfs*38 Frameshift 2/8 - 7
17-1670282-G-GT c.78_79insT p.E27* Nonsense 2/8 - 1
17-1670283-G-T c.79G>T p.E27* Nonsense 2/8 - 1
17-1670287-A-G c.83A>G p.E28G Missense 2/8 - 1
17-1670294-T-A c.84+6T>A - IntronicSNV - 2/7 1
17-1673104-G-A c.85-42G>A - IntronicSNV - 2/7 11
17-1673104-G-C c.85-42G>C - IntronicSNV - 2/7 11
17-1673156-A-C c.95A>C p.D32A Missense 3/8 - 1
17-1673158-C-T c.97C>T p.P33S Missense 3/8 - 1
17-1673160-C-A c.99C>A p.P33= Synonymous 3/8 - 1
17-1673160-C-G c.99C>G p.P33= Synonymous 3/8 - 1
17-1673160-C-T c.99C>T p.P33= Synonymous 3/8 - 1
17-1673161-G-A c.100G>A p.D34N Missense 3/8 - 2
17-1673168-C-T c.107C>T p.T36I Missense 3/8 - 1
17-1673171-G-T c.110G>T p.G37V Missense 3/8 - 1
17-1673173-G-T c.112G>T p.A38S Missense 3/8 - 1
17-1673174-C-G c.113C>G p.A38G Missense 3/8 - 4
17-1673174-C-T c.113C>T p.A38V Missense 3/8 - 1
17-1673175-G-A c.114G>A p.A38= Synonymous 3/8 - 1
17-1673176-C-A c.115C>A p.L39M Missense 3/8 - 1
17-1673182-G-A c.121G>A p.E41K Missense 3/8 - 1
17-1673190-G-C c.129G>C p.E43D Missense 3/8 - 1
17-1673190-G-T c.129G>T p.E43D Missense 3/8 - 1
17-1673193-T-A c.132T>A p.D44E Missense 3/8 - 1
17-1673199-C-G c.138C>G p.F46L Missense 3/8 - 1
17-1673201-T-C c.140T>C p.F47S Missense 3/8 - 1
17-1673203-AA-GC c.142_143delinsGC p.K48A Missense 3/8 - 1
17-1673206-G-T c.145G>T p.V49F Missense 3/8 - 1
17-1673207-T-C c.146T>C p.V49A Missense 3/8 - 1
17-1673212-G-A c.151G>A p.V51M Missense 3/8 - 2
17-1673212-G-C c.151G>C p.V51L Missense 3/8 - 1
17-1673212-G-T c.151G>T p.V51L Missense 3/8 - 1
17-1673217-C-A c.156C>A p.N52K Missense 3/8 - 1
17-1673218-AA-GC c.157_158delinsGC p.K53A Missense 3/8 - 1
17-1673220-G-C c.159G>C p.K53N Missense 3/8 - 1
17-1673221-C-T c.160C>T p.L54= Synonymous 3/8 - 1
17-1673225-C-G c.164C>G p.A55G Missense 3/8 - 1
17-1673225-C-T c.164C>T p.A55V Missense 3/8 - 1
17-1673227-GC-AA c.166_167delinsAA p.A56K Missense 3/8 - 1
17-1673228-C-G c.167C>G p.A56G Missense 3/8 - 4
17-1673228-C-T c.167C>T p.A56V Missense 3/8 - 2
17-1673231-C-A c.170C>A p.A57D Missense 3/8 - 1
17-1673234-T-C c.173T>C p.V58A Missense 3/8 - 1
17-1673237-C-G c.176C>G p.S59C Missense 3/8 - 1
17-1673240-A-G c.179A>G p.N60S Missense 3/8 - 1
17-1673245-G-A c.184G>A p.G62S Missense 3/8 - 1
17-1673249-A-T c.188A>T p.Y63F Missense 3/8 - 1
17-1673251-G-A c.190G>A p.D64N Missense 3/8 - 1
17-1673254-C-G c.193C>G p.L65V Missense 3/8 - 1
17-1673254-CTG-TTT c.193_195delinsTTT p.L65F Missense 3/8 - 1
17-1673258-A-T c.197A>T p.Y66F Missense 3/8 - 1
17-1673260-C-A c.199C>A p.R67= Synonymous 3/8 - 1
17-1673261-G-A c.200G>A p.R67Q Missense 3/8 - 4
17-1673263-G-C c.202G>C p.V68L Missense 3/8 - 7
17-1673263-G-T c.202G>T p.V68L Missense 3/8 - 4
17-1673267-G-A c.206G>A p.R69Q Missense 3/8 - 4
17-1673269-TC-AA c.208_209delinsAA p.S70N Missense 3/8 - 1
17-1673269-T-G c.208T>G p.S70A Missense 3/8 - 1
17-1673276-C-T c.215C>T p.T72M Missense 3/8 - 75
17-1673277-G-A c.216G>A p.T72= Synonymous 3/8 - 3
17-1673277-G-C c.216G>C p.T72= Synonymous 3/8 - 3
17-1673277-G-T c.216G>T p.T72= Synonymous 3/8 - 3
17-1673279-G-A c.218G>A p.S73N Missense 3/8 - 3
17-1673286-G-A c.225G>A p.T75= Synonymous 3/8 - 1
17-1673288-C-T c.227C>T p.T76I Missense 3/8 - 1
17-1673292-C-T c.231C>T p.N77= Synonymous 3/8 - 1
17-1673293-G-A c.232G>A p.V78M Missense 3/8 - 5
17-1673294-T-TAGGCAGGAGAATGGCGTGAACCCGGGA c.233_234insAGGCAGGAGAATGGCGTGAACCCGGGA p.V78_L79insGRRMA* Frameshift 3/8 - 1
17-1673299-C-A c.238C>A p.L80M Missense 3/8 - 1
17-1673303-C-A c.242C>A p.S81Y Missense 3/8 - 2
17-1673303-C-G c.242C>G p.S81C Missense 3/8 - 5
17-1673303-C-T c.242C>T p.S81F Missense 3/8 - 1
17-1673306-C-T c.245C>T p.P82L Missense 3/8 - 1
17-1673305-CCT-C c.248_249del p.L83Qfs*28 Frameshift 3/8 - 1
17-1673309-T-TAGAATTTCTCGTTTTTCAAATGTCTATCATCTCTCAATTCATATTTCAAAAAA c.248_249insAGAATTTCTCGTTTTTCAAATGTCTATCATCTCTCAATTCATATTTCAAAAAA p.S84Efs*47 Frameshift 3/8 - 1
17-1673310-C-CA c.250dup p.S84Kfs*28 Frameshift 3/8 - 1
17-1673311-A-T c.250A>T p.S84C Missense 3/8 - 2
17-1673323-G-A c.262G>A p.A88T Missense 3/8 - 3
17-1673326-C-T c.265C>T p.L89F Missense 3/8 - 4
17-1673330-C-T c.269C>T p.S90L Missense 3/8 - 3
17-1673320-ACGGCCCTCT-A c.271_279del p.A91_S93del InFrameDeletion 3/8 - 1
17-1673333-C-G c.272C>G p.A91G Missense 3/8 - 1
17-1673334-CCCTCTCGCTGGG-C c.273_283+1del - SpliceDonorDeletion 3/8 3/7 1
17-1673334-C-G c.273C>G p.A91= Synonymous 3/8 - 1
17-1673339-C-T c.278C>T p.S93L Missense 3/8 - 2
17-1673340-G-A c.279G>A p.S93= Synonymous 3/8 - 1
17-1673340-G-C c.279G>C p.S93= Synonymous 3/8 - 1
17-1673340-G-T c.279G>T p.S93= Synonymous 3/8 - 1
17-1673405-G-A c.283+61G>A - IntronicSNV - 3/7 20
17-1673405-G-T c.283+61G>T - IntronicSNV - 3/7 18
17-1674321-A-G c.284-2A>G - IntronicSNV - 3/7 1
17-1674323-G-A c.284G>A p.G95E Missense 4/8 - 3
17-1674325-AGCGGAGCAGCGAACAGAATCCATCATTCACCGGGCTCTCTACTATGACTTGATCAGCAG-A c.286_344del p.A96Pfs*8 InFrameDeletion 4/8 - 1
17-1674325-G-A c.286G>A p.A96T Missense 4/8 - 1
17-1674326-C-A c.287C>A p.A96E Missense 4/8 - 1
17-1674326-C-T c.287C>T p.A96V Missense 4/8 - 6
17-1674327-G-A c.288G>A p.A96= Synonymous 4/8 - 1
17-1674328-G-A c.289G>A p.E97K Missense 4/8 - 1
17-1674330-G-A c.291G>A p.E97= Synonymous 4/8 - 3
17-1674331-C-A c.292C>A p.Q98K Missense 4/8 - 2
17-1674331-CA-GC c.292_293delinsGC p.Q98A Missense 4/8 - 1
17-1674334-CGA-TGT c.295_297delinsTGT p.R99C Missense 4/8 - 1
17-1674334-CG-GC c.295_296delinsGC p.R99A Missense 4/8 - 6
17-1674334-C-T c.295C>T p.R99* Nonsense 4/8 - 2
17-1674335-G-A c.296G>A p.R99Q Missense 4/8 - 4
17-1674337-A-G c.298A>G p.T100A Missense 4/8 - 1
17-1674340-G-C c.301G>C p.E101Q Missense 4/8 - 1
17-1674341-A-C c.302A>C p.E101A Missense 4/8 - 1
17-1674343-T-G c.304T>G p.S102A Missense 4/8 - 1
17-1674346-AT-GC c.307_308delinsGC p.I103A Missense 4/8 - 1
17-1674349-AT-GC c.310_311delinsGC p.I104A Missense 4/8 - 1
17-1674352-CA-GC c.313_314delinsGC p.H105A Missense 4/8 - 8
17-1674354-C-A c.315C>A p.H105Q Missense 4/8 - 1
17-1674355-CG-GC c.316_317delinsGC p.R106A Missense 4/8 - 1
17-1674355-C-T c.316C>T p.R106W Missense 4/8 - 2
17-1674359-C-G c.320C>G p.A107G Missense 4/8 - 1
17-1674359-C-T c.320C>T p.A107V Missense 4/8 - 1
17-1674361-CT-GC c.322_323delinsGC p.L108A Missense 4/8 - 1
17-1674364-TA-GC c.325_326delinsGC p.Y109A Missense 4/8 - 1
17-1674367-TA-GC c.328_329delinsGC p.Y110A Missense 4/8 - 1
17-1674370-G-A c.331G>A p.D111N Missense 4/8 - 3
17-1674371-A-C c.332A>C p.D111A Missense 4/8 - 1
17-1674373-T-A c.334T>A p.L112M Missense 4/8 - 1
17-1674373-TT-GC c.334_335delinsGC p.L112A Missense 4/8 - 1
17-1674376-A-G c.337A>G p.I113V Missense 4/8 - 1
17-1674376-AT-GC c.337_338delinsGC p.I113A Missense 4/8 - 1
17-1674379-AG-GC c.340_341delinsGC p.S114A Missense 4/8 - 1
17-1674380-G-A c.341G>A p.S114N Missense 4/8 - 3
17-1674383-G-C c.344G>C p.S115T Missense 4/8 - 1
17-1674392-T-C c.353T>C p.I118T Missense 4/8 - 1
17-1674397-GGT-AAG c.358_360delinsAAG p.G120K Missense 4/8 - 1
17-1674398-G-T c.359G>T p.G120V Missense 4/8 - 1
17-1674411-G-T c.372G>T p.E124D Missense 4/8 - 1
17-1674415-C-T c.376C>T p.L126F Missense 4/8 - 1
17-1674418-G-A c.379G>A p.D127N Missense 4/8 - 1
17-1674422-C-T c.383C>T p.T128M Missense 4/8 - 1
17-1674429-T-A c.390T>A p.T130= Synonymous 4/8 - 7
17-1674429-T-C c.390T>C p.T130= Synonymous 4/8 - 26
17-1674429-T-G c.390T>G p.T130= Synonymous 4/8 - 7
17-1674430-G-A c.391G>A p.A131T Missense 4/8 - 1
17-1674431-C-A c.392C>A p.A131D Missense 4/8 - 5
17-1674431-C-G c.392C>G p.A131G Missense 4/8 - 1
17-1674431-C-T c.392C>T p.A131V Missense 4/8 - 1
17-1674433-C-A c.394C>A p.P132T Missense 4/8 - 1
17-1674434-C-A c.395C>A p.P132H Missense 4/8 - 2
17-1674434-C-G c.395C>G p.P132R Missense 4/8 - 15
17-1674434-C-T c.395C>T p.P132L Missense 4/8 - 1
17-1674430-GC-G c.397del p.Q133Rfs*18 Frameshift 4/8 - 1
17-1674430-G-GC c.397dup p.Q133Pfs*13 Frameshift 4/8 - 1
17-1674436-C-A c.397C>A p.Q133K Missense 4/8 - 1
17-1674436-C-T c.397C>T p.Q133* Nonsense 4/8 - 2
17-1674437-CA-C c.398del p.Q133Rfs*18 Frameshift 4/8 - 1
17-1674436-CAGA-C c.402_404del p.K134del InFrameDeletion 4/8 - 1
17-1674444-C-G c.405C>G p.N135K Missense 4/8 - 1
17-1674445-C-T c.406C>T p.L136F Missense 4/8 - 1
17-1674447-C-G c.408C>G p.L136= Synonymous 4/8 - 1
17-1674448-A-G c.409A>G p.K137E Missense 4/8 - 1
17-1674454-G-C c.415G>C p.A139P Missense 4/8 - 1
17-1674455-C-G c.416C>G p.A139G Missense 4/8 - 1
17-1674457-T-TC c.421dup p.R141Pfs*5 Frameshift 4/8 - 2
17-1674460-C-T c.421C>T p.R141W Missense 4/8 - 1
17-1674461-G-A c.422G>A p.R141Q Missense 4/8 - 1
17-1674460-CG-C c.423del p.I142Sfs*9 Frameshift 4/8 - 1
17-1674466-G-A c.427G>A p.V143I Missense 4/8 - 2
17-1674466-G-C c.427G>C p.V143L Missense 4/8 - 2
17-1674467-T-C c.428T>C p.V143A Missense 4/8 - 1
17-1674475-AA-GC c.436_437delinsGC p.K146A Missense 4/8 - 1
17-1674512-C-T c.439+34C>T - IntronicSNV - 4/7 2
17-1674542-GTC-G c.439+66_439+67del - IntronicDeletion - 4/7 1
17-1674544-TC-T c.439+66del - IntronicDeletion - 4/7 1
17-1674544-CTT-C c.439+81_439+82del - IntronicDeletion - 4/7 1
17-1674544-CT-C c.439+82del - IntronicDeletion - 4/7 1
17-1674605-T-C c.439+127T>C - IntronicSNV - 4/7 7
17-1674605-T-G c.439+127T>G - IntronicSNV - 4/7 5
17-1674687-T-C c.439+209T>C - IntronicSNV - 4/7 5
17-1675127-C-G c.440-39C>G - IntronicSNV - 4/7 10
17-1675127-C-T c.440-39C>T - IntronicSNV - 4/7 10
17-1675138-C-T c.440-28C>T - IntronicSNV - 4/7 8
17-1675167-G-A c.441G>A p.K147= Synonymous 5/8 - 1
17-1675167-G-C c.441G>C p.K147N Missense 5/8 - 2
17-1675167-G-T c.441G>T p.K147N Missense 5/8 - 1
17-1675168-C-G c.442C>G p.L148V Missense 5/8 - 1
17-1675171-CG-GC c.445_446delinsGC p.R149A Missense 5/8 - 1
17-1675172-G-A c.446G>A p.R149H Missense 5/8 - 2
17-1675174-A-G c.448A>G p.I150V Missense 5/8 - 1
17-1675177-A-C c.451A>C p.K151Q Missense 5/8 - 9
17-1675184-G-C c.458G>C p.S153T Missense 5/8 - 1
17-1675193-C-T c.467C>T p.A156V Missense 5/8 - 1
17-1675196-C-A c.470C>A p.P157H Missense 5/8 - 1
17-1675196-C-G c.470C>G p.P157R Missense 5/8 - 1
17-1675196-C-T c.470C>T p.P157L Missense 5/8 - 1
17-1675210-T-C c.484T>C p.Y162H Missense 5/8 - 3
17-1675214-G-C c.488G>C p.G163A Missense 5/8 - 1
17-1675218-C-A c.492C>A p.T164= Synonymous 5/8 - 1
17-1675218-C-G c.492C>G p.T164= Synonymous 5/8 - 1
17-1675218-C-T c.492C>T p.T164= Synonymous 5/8 - 1
17-1675223-C-T c.497C>T p.P166L Missense 5/8 - 1
17-1675226-G-A c.500G>A p.R167K Missense 5/8 - 2
17-1675224-CAG-C c.501_502del p.R167Sfs*35 Frameshift 5/8 - 1
17-1675228-G-T c.502G>T p.V168F Missense 5/8 - 1
17-1675228-GTC-ATG c.502_504delinsATG p.V168M Missense 5/8 - 1
17-1675230-C-T c.504C>T p.V168= Synonymous 5/8 - 1
17-1675233-G-A c.507G>A p.L169= Synonymous 5/8 - 2
17-1675235-C-T c.509C>T p.T170M Missense 5/8 - 1
17-1675237-G-C c.511G>C p.G171R Missense 5/8 - 1
17-1675243-C-G c.517C>G p.P173A Missense 5/8 - 1
17-1675243-C-T c.517C>T p.P173S Missense 5/8 - 2
17-1675246-C-T c.520C>T p.R174C Missense 5/8 - 2
17-1675247-G-A c.521G>A p.R174H Missense 5/8 - 1
17-1675252-G-A c.526G>A p.D176N Missense 5/8 - 1
17-1675260-A-C c.534A>C p.Q178H Missense 5/8 - 3
17-1675260-A-T c.534A>T p.Q178H Missense 5/8 - 4
17-1675263-G-C c.537G>C p.E179D Missense 5/8 - 1
17-1675263-G-T c.537G>T p.E179D Missense 5/8 - 2
17-1675265-T-C c.539T>C p.I180T Missense 5/8 - 1
17-1675266-C-G c.540C>G p.I180M Missense 5/8 - 1
17-1675270-A-G c.544A>G p.N182D Missense 5/8 - 1
17-1675279-C-T c.553C>T p.Q185* Nonsense 5/8 - 2
17-1675283-C-T c.557C>T p.A186V Missense 5/8 - 2
17-1675291-A-G c.565A>G p.K189E Missense 5/8 - 1
17-1675294-G-A c.568G>A p.G190R Missense 5/8 - 2
17-1675294-G-C c.568G>C p.G190R Missense 5/8 - 1
17-1675294-GGG-TGT c.568_570delinsTGT p.G190C Missense 5/8 - 1
17-1675295-G-C c.569G>C p.G190A Missense 5/8 - 1
17-1675300-C-A c.574C>A p.L192I Missense 5/8 - 1
17-1675300-C-T c.574C>T p.L192F Missense 5/8 - 1
17-1675300-CTC-ATG c.574_576delinsATG p.L192M Missense 5/8 - 1
17-1675303-G-A c.577G>A p.A193T Missense 5/8 - 2
17-1675304-C-T c.578C>T p.A193V Missense 5/8 - 1
17-1675309-T-C c.583T>C p.S195P Missense 5/8 - 1
17-1675310-C-G c.584C>G p.S195C Missense 5/8 - 1
17-1675313-C-T c.587C>T p.T196I Missense 5/8 - 1
17-1675316-A-G c.590A>G p.K197R Missense 5/8 - 1
17-1675318-G-A c.592G>A p.E198K Missense 5/8 - 1
17-1675321-AT-GC c.595_596delinsGC p.I199A Missense 5/8 - 1
17-1675324-C-G c.598C>G p.P200A Missense 5/8 - 1
17-1675325-C-A c.599C>A p.P200H Missense 5/8 - 1
17-1675327-G-A c.601G>A p.D201N Missense 5/8 - 3
17-1675327-G-C c.601G>C p.D201H Missense 5/8 - 2
17-1675332-G-C c.606G>C p.E202D Missense 5/8 - 1
17-1675332-G-T c.606G>T p.E202D Missense 5/8 - 2
17-1675334-T-A c.608T>A p.I203N Missense 5/8 - 1
17-1675335-C-T c.609C>T p.I203= Synonymous 5/8 - 1
17-1675342-C-A c.616C>A p.L206I Missense 5/8 - 1
17-1675344-C-A c.618C>A p.L206= Synonymous 5/8 - 2
17-1675344-C-G c.618C>G p.L206= Synonymous 5/8 - 2
17-1675344-C-T c.618C>T p.L206= Synonymous 5/8 - 4
17-1675344-CCTT-C c.621_623del p.L208del InFrameDeletion 5/8 - 1
17-1675347-T-A c.621T>A p.L207= Synonymous 5/8 - 1
17-1675347-T-C c.621T>C p.L207= Synonymous 5/8 - 1
17-1675347-T-G c.621T>G p.L207= Synonymous 5/8 - 1
17-1675348-C-T c.622C>T p.L208F Missense 5/8 - 1
17-1675350-C-T c.624C>T p.L208= Synonymous 5/8 - 1
17-1675352-G-C c.626G>C p.G209A Missense 5/8 - 1
17-1675352-G-T c.626G>T p.G209V Missense 5/8 - 1
17-1675354-G-T c.628G>T p.V210L Missense 5/8 - 1
17-1675358-C-T c.632C>T p.A211V Missense 5/8 - 2
17-1675359-G-A c.633G>A p.A211= Synonymous 5/8 - 3
17-1675359-G-C c.633G>C p.A211= Synonymous 5/8 - 2
17-1675359-G-T c.633G>T p.A211= Synonymous 5/8 - 2
17-1675363-T-C c.637T>C p.F213L Missense 5/8 - 1
17-1675365-C-A c.639C>A p.F213L Missense 5/8 - 1
17-1675365-C-G c.639C>G p.F213L Missense 5/8 - 1
17-1675364-T-C c.638T>C p.F213S Missense 5/8 - 1
17-1675365-C-T c.639C>T p.F213= Synonymous 5/8 - 1
17-1675368-G-C c.642G>C p.K214N Missense 5/8 - 1
17-1675371-GTGA-G c.643+2_643+4del - IntronicDeletion - 5/7 1
17-1675371-T-G c.643+2T>G - IntronicSNV - 5/7 1
17-1675377-C-T c.643+8C>T - IntronicSNV - 5/7 1
17-1675378-G-A c.643+9G>A - IntronicSNV - 5/7 6
17-1675378-G-C c.643+9G>C - IntronicSNV - 5/7 4
17-1675451-T-C c.643+82T>C - IntronicSNV - 5/7 8
17-1675486-A-C c.643+117A>C - IntronicSNV - 5/7 1
17-1675486-A-G c.643+117A>G - IntronicSNV - 5/7 1
17-1675513-GCA-G c.643+144_643+145del - IntronicDeletion - 5/7 1
17-1675519-TTG-T c.643+153_643+154del - IntronicDeletion - 5/7 1
17-1675560-A-G c.643+191A>G - IntronicSNV - 5/7 4
17-1675596-C-G c.643+227C>G - IntronicSNV - 5/7 1
17-1676909-C-T c.644-1443C>T - IntronicSNV - 5/7 2
17-1678256-G-C c.644-96G>C - IntronicSNV - 5/7 12
17-1678256-G-T c.644-96G>T - IntronicSNV - 5/7 12
17-1678338-A-T c.644-14A>T - IntronicSNV - 5/7 8
17-1678352-G-C c.644G>C p.G215A Missense 6/8 - 1
17-1678353-G-A c.645G>A p.G215= Synonymous 6/8 - 1
17-1678353-G-C c.645G>C p.G215= Synonymous 6/8 - 1
17-1678353-G-T c.645G>T p.G215= Synonymous 6/8 - 1
17-1678356-G-A c.648G>A p.Q216= Synonymous 6/8 - 3
17-1678358-G-A c.650G>A p.W217* Nonsense 6/8 - 1
17-1678359-G-A c.651G>A p.W217* Nonsense 6/8 - 2
17-1678360-G-A c.652G>A p.V218I Missense 6/8 - 1
17-1678361-GT-G c.653del p.V218Efs*22 Frameshift 6/8 - 2
17-1678364-C-A c.656C>A p.T219K Missense 6/8 - 2
17-1678364-C-T c.656C>T p.T219I Missense 6/8 - 2
17-1678365-A-C c.657A>C p.T219= Synonymous 6/8 - 1
17-1678365-A-G c.657A>G p.T219= Synonymous 6/8 - 1
17-1678365-A-T c.657A>T p.T219= Synonymous 6/8 - 1
17-1678366-A-T c.658A>T p.K220* Nonsense 6/8 - 1
17-1678367-A-C c.659A>C p.K220T Missense 6/8 - 1
17-1678371-T-C c.663T>C p.F221= Synonymous 6/8 - 2
17-1678372-G-A c.664G>A p.D222N Missense 6/8 - 2
17-1678373-A-G c.665A>G p.D222G Missense 6/8 - 1
17-1678375-T-G c.667T>G p.S223A Missense 6/8 - 1
17-1678376-C-A c.668C>A p.S223Y Missense 6/8 - 1
17-1678376-C-G c.668C>G p.S223C Missense 6/8 - 1
17-1678378-AG-CT c.670_671inv p.R224L Missense 6/8 - 1
17-1678379-G-A c.671G>A p.R224K Missense 6/8 - 1
17-1678379-G-C c.671G>C p.R224T Missense 6/8 - 1
17-1678384-A-G c.676A>G p.T226A Missense 6/8 - 1
17-1678385-C-T c.677C>T p.T226I Missense 6/8 - 1
17-1678387-TCC-GAG c.679_681delinsGAG p.S227E Missense 6/8 - 1
17-1678389-C-A c.681C>A p.S227= Synonymous 6/8 - 1
17-1678388-CCCT-C c.682_684del p.L228del InFrameDeletion 6/8 - 1
17-1678391-T-A c.683T>A p.L228H Missense 6/8 - 1
17-1678392-C-T c.684C>T p.L228= Synonymous 6/8 - 1
17-1678394-A-G c.686A>G p.E229G Missense 6/8 - 1
17-1678400-T-G c.692T>G p.F231C Missense 6/8 - 1
17-1678404-C-G c.696C>G p.Y232* Nonsense 6/8 - 1
17-1678406-T-G c.698T>G p.L233W Missense 6/8 - 1
17-1678408-G-C c.700G>C p.D234H Missense 6/8 - 1
17-1678412-A-G c.704A>G p.E235G Missense 6/8 - 1
17-1678418-G-A c.710G>A p.R237K Missense 6/8 - 1
17-1678421-CC-TG c.713_714delinsTG p.T238M Missense 6/8 - 1
17-1678421-C-T c.713C>T p.T238I Missense 6/8 - 1
17-1678423-G-A c.715G>A p.V239M Missense 6/8 - 1
17-1678423-G-C c.715G>C p.V239L Missense 6/8 - 1
17-1678426-A-T c.718A>T p.R240W Missense 6/8 - 3
17-1678427-G-A c.719G>A p.R240K Missense 6/8 - 1
17-1678432-C-T c.724C>T p.P242S Missense 6/8 - 1
17-1678434-C-A c.726C>A p.P242= Synonymous 6/8 - 1
17-1678440-G-A c.732G>A p.M244I Missense 6/8 - 1
17-1678440-G-C c.732G>C p.M244I Missense 6/8 - 1
17-1678440-G-T c.732G>T p.M244I Missense 6/8 - 1
17-1678446-C-T c.738C>T p.D246= Synonymous 6/8 - 1
17-1678449-T-A c.741T>A p.P247= Synonymous 6/8 - 1
17-1678449-T-C c.741T>C p.P247= Synonymous 6/8 - 1
17-1678449-T-G c.741T>G p.P247= Synonymous 6/8 - 1
17-1678451-AGGCTGTTTTACGCTAT-A c.748_763del p.V250Wfs*14 Frameshift 6/8 - 1
17-1678462-CGC-TGG c.754_756delinsTGG p.R252W Missense 6/8 - 1
17-1678462-C-T c.754C>T p.R252C Missense 6/8 - 2
17-1678464-C-A c.756C>A p.R252= Synonymous 6/8 - 2
17-1678464-C-T c.756C>T p.R252= Synonymous 6/8 - 2
17-1678468-G-A c.760G>A p.G254S Missense 6/8 - 1
17-1678473-G-A c.765G>A p.L255= Synonymous 6/8 - 1
17-1678475-A-T c.767A>T p.D256V Missense 6/8 - 1
17-1678483-C-A c.775C>A p.L259I Missense 6/8 - 1
17-1678484-T-G c.776T>G p.L259R Missense 6/8 - 1
17-1678488-C-T c.780C>T p.S260= Synonymous 6/8 - 2
17-1678490-G-A c.782G>A p.C261Y Missense 6/8 - 2
17-1678493-A-G c.785A>G p.K262R Missense 6/8 - 1
17-1679209-G-A c.787-617G>A - IntronicSNV - 6/7 1
17-1679445-C-T c.787-381C>T - IntronicSNV - 6/7 3
17-1679793-A-G c.787-33A>G - IntronicSNV - 6/7 9
17-1679805-A-G c.787-21A>G - IntronicSNV - 6/7 11
17-1679826-A-G c.787A>G p.I263V Missense 7/8 - 1
17-1679826-ATT-TAA c.787_789delinsTAA p.I263* Nonsense 7/8 - 1
17-1679832-C-T c.793C>T p.Q265* Nonsense 7/8 - 1
17-1679833-A-G c.794A>G p.Q265R Missense 7/8 - 1
17-1679834-G-A c.795G>A p.Q265= Synonymous 7/8 - 1
17-1679837-G-C c.798G>C p.L266= Synonymous 7/8 - 1
17-1679843-G-C c.804G>C p.L268F Missense 7/8 - 1
17-1679844-A-C c.805A>C p.T269P Missense 7/8 - 1
17-1679846-C-A c.807C>A p.T269= Synonymous 7/8 - 1
17-1679846-C-G c.807C>G p.T269= Synonymous 7/8 - 1
17-1679846-C-T c.807C>T p.T269= Synonymous 7/8 - 1
17-1679847-G-A c.808G>A p.G270R Missense 7/8 - 7
17-1679847-G-C c.808G>C p.G270R Missense 7/8 - 3
17-1679847-G-T c.808G>T p.G270* Nonsense 7/8 - 1
17-1679847-GGAAGCATGAGTATCATCTTCTTCCTGCCCCTGAAA-G c.810_844del p.S271Dfs*18 Frameshift 7/8 - 1
17-1679849-A-G c.810A>G p.G270= Synonymous 7/8 - 2
17-1679851-G-C c.812G>C p.S271T Missense 7/8 - 1
17-1679855-G-A c.816G>A p.M272I Missense 7/8 - 5
17-1679855-G-C c.816G>C p.M272I Missense 7/8 - 1
17-1679855-G-GT c.816_817insT p.S273* Nonsense 7/8 - 1
17-1679855-G-T c.816G>T p.M272I Missense 7/8 - 1
17-1679856-A-G c.817A>G p.S273G Missense 7/8 - 1
17-1679860-T-C c.821T>C p.I274T Missense 7/8 - 1
17-1679861-C-G c.822C>G p.I274M Missense 7/8 - 1
17-1679865-T-A c.826T>A p.F276I Missense 7/8 - 2
17-1679867-C-T c.828C>T p.F276= Synonymous 7/8 - 2
17-1679862-ATCT-A c.829_831del p.F277del InFrameDeletion 7/8 - 1
17-1679868-T-C c.829T>C p.F277L Missense 7/8 - 1
17-1679869-T-TC c.832dup p.L278Pfs*23 Frameshift 7/8 - 2
17-1679872-T-C c.833T>C p.L278P Missense 7/8 - 3
17-1679874-C-T c.835C>T p.P279S Missense 7/8 - 1
17-1679877-CCT-C c.838_839del p.L280Efs*20 Frameshift 7/8 - 1
17-1679877-C-CT c.839dup p.K281Efs*20 Frameshift 7/8 - 1
17-1679891-G-C c.852G>C p.Q284H Missense 7/8 - 3
17-1679891-G-T c.852G>T p.Q284H Missense 7/8 - 4
17-1679892-GAATTTGACCTTGATA-G c.853_867del p.N285_I289del InFrameDeletion 7/8 - 1
17-1679895-T-C c.856T>C p.L286= Synonymous 7/8 - 1
17-1679895-T-G c.856T>G p.L286V Missense 7/8 - 1
17-1679897-G-A c.858G>A p.L286= Synonymous 7/8 - 1
17-1679896-TTGACCTTGATAG-T c.857_868del p.L286_E290delins* MultiAAMissense 7/8 - 1
17-1679897-G-C c.858G>C p.L286F Missense 7/8 - 3
17-1679897-G-T c.858G>T p.L286F Missense 7/8 - 3
17-1679900-C-A c.861C>A p.T287= Synonymous 7/8 - 1
17-1679900-C-G c.861C>G p.T287= Synonymous 7/8 - 1
17-1679900-C-T c.861C>T p.T287= Synonymous 7/8 - 1
17-1679906-AGAG-A c.871_873del p.E291del InFrameDeletion 7/8 - 1
17-1679914-G-A c.875G>A p.S292N Missense 7/8 - 2
17-1679918-C-T c.879C>T p.L293= Synonymous 7/8 - 1
17-1679918-TC-T c.879del p.T294Pfs*8 Frameshift 7/8 - 1
17-1679924-C-G c.885C>G p.S295= Synonymous 7/8 - 1
17-1679924-C-T c.885C>T p.S295= Synonymous 7/8 - 1
17-1679937-G-T c.898G>T p.D300Y Missense 7/8 - 1
17-1679940-A-G c.901A>G p.I301V Missense 7/8 - 1
17-1679941-T-C c.902T>C p.I301T Missense 7/8 - 1
17-1679943-G-A c.904G>A p.D302N Missense 7/8 - 1
17-1679946-C-T c.907C>T p.R303* Nonsense 7/8 - 4
17-1679952-C-G c.913C>G p.L305V Missense 7/8 - 2
17-1679959-C-A c.920C>A p.T307N Missense 7/8 - 1
17-1679961-G-A c.922G>A p.V308M Missense 7/8 - 1
17-1679968-C-T c.929C>T p.A310V Missense 7/8 - 1
17-1679976-AC-TG c.937_938delinsTG p.T313C Missense 7/8 - 1
17-1679978-T-A c.939T>A p.T313= Synonymous 7/8 - 2
17-1679978-T-C c.939T>C p.T313= Synonymous 7/8 - 2
17-1679978-T-G c.939T>G p.T313= Synonymous 7/8 - 2
17-1679983-C-T c.944C>T p.P315L Missense 7/8 - 1
17-1680002-T-C c.963T>C p.Y321= Synonymous 7/8 - 33
17-1680002-T-G c.963T>G p.Y321* Nonsense 7/8 - 7
17-1680003-G-A c.964G>A p.E322K Missense 7/8 - 2
17-1680008-C-G c.969C>G p.G323= Synonymous 7/8 - 1
17-1680008-C-T c.969C>T p.G323= Synonymous 7/8 - 1
17-1680009-G-A c.970G>A p.E324K Missense 7/8 - 8
17-1680014-C-G c.975C>G p.V325= Synonymous 7/8 - 1
17-1680015-A-T c.976A>T p.T326S Missense 7/8 - 1
17-1680020-G-C c.981G>C p.K327N Missense 7/8 - 1
17-1680023-CCTG-C c.986_988del p.L329del InFrameDeletion 7/8 - 1
17-1680033-A-G c.994A>G p.M332V Missense 7/8 - 2
17-1680035-G-A c.996G>A p.M332I Missense 7/8 - 1
17-1680038-T-G c.997+2T>G - IntronicSNV - 7/7 1
17-1680084-CAGGGTCTTTGGGCCTT-C c.997+48_997+63del - IntronicDeletion - 7/7 1
17-1680118-C-T c.997+82C>T - IntronicSNV - 7/7 1
17-1680192-A-T c.997+156A>T - IntronicSNV - 7/7 1
17-1680318-A-G c.998-163A>G - IntronicSNV - 7/7 4
17-1680456-C-T c.998-25C>T - IntronicSNV - 7/7 1
17-1680487-A-G c.1004A>G p.Q335R Missense 8/8 - 1
17-1680490-C-G c.1007C>G p.S336C Missense 8/8 - 1
17-1680490-C-T c.1007C>T p.S336F Missense 8/8 - 1
17-1680502-C-A c.1019C>A p.S340* Nonsense 8/8 - 2
17-1680502-C-G c.1019C>G p.S340* Nonsense 8/8 - 1
17-1680504-C-A c.1021C>A p.P341T Missense 8/8 - 1
17-1680505-C-G c.1022C>G p.P341R Missense 8/8 - 2
17-1680507-G-A c.1024G>A p.D342N Missense 8/8 - 1
17-1680515-CA-C c.1034del p.K345Rfs*9 Frameshift 8/8 - 1
17-1680519-A-G c.1036A>G p.I346V Missense 8/8 - 1
17-1680525-G-A c.1042G>A p.G348S Missense 8/8 - 1
17-1680525-G-T c.1042G>T p.G348C Missense 8/8 - 1
17-1680526-G-T c.1043G>T p.G348V Missense 8/8 - 1
17-1680531-C-T c.1048C>T p.P350S Missense 8/8 - 1
17-1680540-C-A c.1057C>A p.L353M Missense 8/8 - 1
17-1680550-T-A c.1067T>A p.V356E Missense 8/8 - 1
17-1680552-G-A c.1069G>A p.E357K Missense 8/8 - 1
17-1680558-C-T c.1075C>T p.R359W Missense 8/8 - 1
17-1680559-G-A c.1076G>A p.R359Q Missense 8/8 - 1
17-1680561-G-A c.1078G>A p.A360T Missense 8/8 - 1
17-1680563-T-G c.1080T>G p.A360= Synonymous 8/8 - 1
17-1680570-G-A c.1087G>A p.E363K Missense 8/8 - 2
17-1680574-G-A c.1091G>A p.W364* Nonsense 8/8 - 2
17-1680577-A-T c.1094A>T p.N365I Missense 8/8 - 2
17-1680578-C-A c.1095C>A p.N365K Missense 8/8 - 1
17-1680578-C-G c.1095C>G p.N365K Missense 8/8 - 3
17-1680579-G-A c.1096G>A p.E366K Missense 8/8 - 1
17-1680585-G-A c.1102G>A p.G368R Missense 8/8 - 1
17-1680585-G-C c.1102G>C p.G368R Missense 8/8 - 1
17-1680589-C-A c.1106C>A p.A369E Missense 8/8 - 1
17-1680590-G-A c.1107G>A p.A369= Synonymous 8/8 - 1
17-1680594-AC-TG c.1111_1112delinsTG p.T371C Missense 8/8 - 1
17-1680597-ACC-A c.1118_1119del p.P373Qfs*18 Frameshift 8/8 - 1
17-1680601-C-T c.1118C>T p.P373L Missense 8/8 - 1
17-1680602-C-A c.1119C>A p.P373= Synonymous 8/8 - 1
17-1680602-C-G c.1119C>G p.P373= Synonymous 8/8 - 2
17-1680602-C-T c.1119C>T p.P373= Synonymous 8/8 - 1
17-1680615-C-T c.1132C>T p.Q378* Nonsense 8/8 - 3
17-1680617-G-A c.1134G>A p.Q378= Synonymous 8/8 - 1
17-1680618-C-A c.1135C>A p.P379T Missense 8/8 - 1
17-1680621-G-A c.1138G>A p.A380T Missense 8/8 - 1
17-1680628-T-C c.1145T>C p.L382P Missense 8/8 - 1
17-1680630-A-G c.1147A>G p.T383A Missense 8/8 - 1
17-1680631-C-A c.1148C>A p.T383N Missense 8/8 - 2
17-1680627-CTCACCTTCCCGCTGGACTA-C c.1152_1170del p.F384Lfs*9 Frameshift 8/8 - 1
17-1680637-C-A c.1154C>A p.P385Q Missense 8/8 - 3
17-1680637-C-T c.1154C>T p.P385L Missense 8/8 - 3
17-1680647-T-C c.1164T>C p.Y388= Synonymous 8/8 - 1
17-1680648-CA-TT c.1165_1166delinsTT p.H389F Missense 8/8 - 1
17-1680659-G-C c.1176G>C p.Q392H Missense 8/8 - 1
17-1680659-G-T c.1176G>T p.Q392H Missense 8/8 - 1
17-1680660-C-G c.1177C>G p.P393A Missense 8/8 - 1
17-1680671-C-T c.1188C>T p.F396= Synonymous 8/8 - 2
17-1680675-C-CT c.1193dup p.R399Efs*31 Frameshift 8/8 - 1
17-1680675-C-T c.1192C>T p.L398= Synonymous 8/8 - 2
17-1680677-G-A c.1194G>A p.L398= Synonymous 8/8 - 2
17-1680677-G-C c.1194G>C p.L398= Synonymous 8/8 - 2
17-1680677-G-T c.1194G>T p.L398= Synonymous 8/8 - 2
17-1680678-A-C c.1195A>C p.R399= Synonymous 8/8 - 1
17-1680680-G-A c.1197G>A p.R399= Synonymous 8/8 - 2
17-1680681-G-C c.1198G>C p.D400H Missense 8/8 - 1
17-1680685-C-G c.1202C>G p.T401R Missense 8/8 - 2
17-1680687-G-T c.1204G>T p.D402Y Missense 8/8 - 1
17-1680690-A-T c.1207A>T p.T403S Missense 8/8 - 1
17-1680691-C-A c.1208C>A p.T403K Missense 8/8 - 1
17-1680693-G-A c.1210G>A p.G404R Missense 8/8 - 2
17-1680694-G-A c.1211G>A p.G404E Missense 8/8 - 3
17-1680696-G-A c.1213G>A p.A405T Missense 8/8 - 1
17-1680697-C-T c.1214C>T p.A405V Missense 8/8 - 2
17-1680698-CC-GA c.1215_1216delinsGA p.L406I Missense 8/8 - 1
17-1680699-C-T c.1216C>T p.L406F Missense 8/8 - 1
17-1680702-C-T c.1219C>T p.L407F Missense 8/8 - 1
17-1680704-C-A c.1221C>A p.L407= Synonymous 8/8 - 1
17-1680704-C-G c.1221C>G p.L407= Synonymous 8/8 - 2
17-1680704-C-T c.1221C>T p.L407= Synonymous 8/8 - 1
17-1680707-C-T c.1224C>T p.F408= Synonymous 8/8 - 1
17-1680709-T-C c.1226T>C p.I409T Missense 8/8 - 1
17-1680723-G-A c.1240G>A p.D414N Missense 8/8 - 1
17-1680727-C-T c.1244C>T p.P415L Missense 8/8 - 1
17-1680730-G-C c.1247G>C p.R416T Missense 8/8 - 2
17-1680732-G-A c.1249G>A p.G417S Missense 8/8 - 1
17-1680734-C-A c.1251C>A p.G417= Synonymous 8/8 - 1
17-1680734-C-G c.1251C>G p.G417= Synonymous 8/8 - 2
17-1680734-C-T c.1251C>T p.G417= Synonymous 8/8 - 1
17-1680735-C-A c.1252C>A p.P418T Missense 8/8 - 1
17-1680739-A-T c.1256A>T p.*419Lext*34 Missense 8/8 - 1
17-1680805-C-T c.*65C>T - 3-UTRSNV 8/8 - 1
17-1680832-G-A c.*92G>A - 3-UTRSNV 8/8 - 1