SERPINF2

SERPINF2 serpin family F member 2

Annotation transcript: NM_000934.4

615 unique variant annotations were identified in 412 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
17-1646317-T-C c.-5+115T>C - intron_variant - 1/9 3
17-1646560-T-A c.-5+358T>A - intron_variant - 1/9 1
17-1646560-T-G c.-5+358T>G - intron_variant - 1/9 1
17-1646651-A-C c.-5+449A>C - intron_variant - 1/9 1
17-1647152-G-A c.-5+950G>A - intron_variant - 1/9 1
17-1648293-G-A c.4G>A p.A2T Missense 2/10 - 2
17-1648293-G-C c.4G>C p.A2P Missense 2/10 - 1
17-1648293-G-T c.4G>T p.A2S Missense 2/10 - 1
17-1648294-C-T c.5C>T p.A2V Missense 2/10 - 16
17-1648295-G-A c.6G>A p.A2= Synonymous 2/10 - 1
17-1648296-C-T c.7C>T p.L3= Synonymous 2/10 - 2
17-1648299-C-T c.10C>T p.L4F Missense 2/10 - 1
17-1648307-G-A c.18G>A p.G6= Synonymous 2/10 - 2
17-1648307-G-C c.18G>C p.G6= Synonymous 2/10 - 1
17-1648307-G-T c.18G>T p.G6= Synonymous 2/10 - 1
17-1648311-C-G c.22C>G p.L8V Missense 2/10 - 1
17-1648314-G-T c.25G>T p.V9L Missense 2/10 - 1
17-1648316-G-C c.27G>C p.V9= Synonymous 2/10 - 1
17-1648317-CTC-GAG c.28_30inv p.L10E Missense 2/10 - 1
17-1648318-T-C c.29T>C p.L10P Missense 2/10 - 2
17-1648320-AG-CC c.31_32delinsCC p.S11P Missense 2/10 - 1
17-1648320-AG-GA c.31_32delinsGA p.S11D Missense 2/10 - 1
17-1648320-AG-GC c.31_32delinsGC p.S11A Missense 2/10 - 7
17-1648320-A-T c.31A>T p.S11C Missense 2/10 - 1
17-1648323-T-A c.34T>A p.W12R Missense 2/10 - 3
17-1648323-T-C c.34T>C p.W12R Missense 2/10 - 3
17-1648323-TG-GC c.34_35delinsGC p.W12A Missense 2/10 - 1
17-1648326-T-C c.37T>C p.S13P Missense 2/10 - 1
17-1648326-TC-CG c.37_38delinsCG p.S13R Missense 2/10 - 2
17-1648326-TCC-GAG c.37_39delinsGAG p.S13E Missense 2/10 - 4
17-1648326-TC-GA c.37_38inv p.S13D Missense 2/10 - 1
17-1648326-T-G c.37T>G p.S13A Missense 2/10 - 3
17-1648327-C-G c.38C>G p.S13C Missense 2/10 - 1
17-1648331-C-A c.42C>A p.C14* Nonsense 2/10 - 1
17-1648333-T-C c.44T>C p.L15P Missense 2/10 - 1
17-1648339-G-A c.50G>A p.G17D Missense 2/10 - 1
17-1648344-T-G c.55T>G p.C19G Missense 2/10 - 1
17-1648344-TG-CA c.55_56inv p.C19H Missense 2/10 - 1
17-1648344-TG-CC c.55_56delinsCC p.C19P Missense 2/10 - 1
17-1648344-TG-CT c.55_56delinsCT p.C19L Missense 2/10 - 1
17-1648345-G-A c.56G>A p.C19Y Missense 2/10 - 1
17-1648346-C-T c.57C>T p.C19= Synonymous 2/10 - 2
17-1648348-C-T c.59C>T p.S20F Missense 2/10 - 3
17-1648350-G-C c.61G>C p.V21L Missense 2/10 - 1
17-1648471-C-T c.66C>T p.F22= Synonymous 3/10 - 1
17-1648472-T-G c.67T>G p.S23A Missense 3/10 - 1
17-1648475-C-G c.70C>G p.P24A Missense 3/10 - 1
17-1648475-C-T c.70C>T p.P24S Missense 3/10 - 1
17-1648478-GTG-ATC c.73_75delinsATC p.V25I Missense 3/10 - 1
17-1648479-T-C c.74T>C p.V25A Missense 3/10 - 1
17-1648481-AG-GC c.76_77delinsGC p.S26A Missense 3/10 - 1
17-1648484-G-A c.79G>A p.A27T Missense 3/10 - 2
17-1648484-GC-TG c.79_80delinsTG p.A27C Missense 3/10 - 1
17-1648485-C-A c.80C>A p.A27D Missense 3/10 - 1
17-1648485-C-T c.80C>T p.A27V Missense 3/10 - 1
17-1648489-G-A c.84G>A p.M28I Missense 3/10 - 2
17-1648490-GAG-TTT c.85_87delinsTTT p.E29F Missense 3/10 - 1
17-1648493-CCC-ATG c.88_90delinsATG p.P30M Missense 3/10 - 1
17-1648493-C-T c.88C>T p.P30S Missense 3/10 - 1
17-1648494-C-T c.89C>T p.P30L Missense 3/10 - 1
17-1648495-CT-C c.92del p.L31Wfs*5 Frameshift 3/10 - 1
17-1648497-T-G c.92T>G p.L31W Missense 3/10 - 1
17-1648502-C-G c.97C>G p.R33G Missense 3/10 - 15
17-1648502-C-T c.97C>T p.R33W Missense 3/10 - 38
17-1648506-A-T c.101A>T p.Q34L Missense 3/10 - 1
17-1648564-G-T c.102+57G>T - IntronicSNV - 3/9 1
17-1648627-C-G c.103C>G p.L35V Missense 4/10 - 1
17-1648631-C-G c.107C>G p.T36S Missense 4/10 - 1
17-1648635-C-A c.111C>A p.S37R Missense 4/10 - 1
17-1648635-C-T c.111C>T p.S37= Synonymous 4/10 - 2
17-1648641-G-A c.117G>A p.P39= Synonymous 4/10 - 1
17-1648642-AA-GC c.118_119delinsGC p.N40A Missense 4/10 - 1
17-1648648-GA-CC c.124_125delinsCC p.E42P Missense 4/10 - 1
17-1648648-G-C c.124G>C p.E42Q Missense 4/10 - 1
17-1648654-GTG-ATC c.130_132delinsATC p.V44I Missense 4/10 - 1
17-1648658-CC-GG c.134_135inv p.S45W Missense 4/10 - 1
17-1648658-C-T c.134C>T p.S45F Missense 4/10 - 2
17-1648663-C-A c.139C>A p.L47I Missense 4/10 - 1
17-1648667-C-T c.143C>T p.T48I Missense 4/10 - 1
17-1648677-G-C c.153G>C p.K51N Missense 4/10 - 1
17-1648678-T-C c.154T>C p.L52= Synonymous 4/10 - 1
17-1648678-TT-AA c.154_155inv p.L52K Missense 4/10 - 1
17-1648680-G-A c.156G>A p.L52= Synonymous 4/10 - 1
17-1648679-T-G c.155T>G p.L52W Missense 4/10 - 1
17-1648681-G-A c.157G>A p.G53S Missense 4/10 - 1
17-1648681-GGC-CAA c.157_159delinsCAA p.G53Q Missense 4/10 - 1
17-1648682-G-A c.158G>A p.G53D Missense 4/10 - 1
17-1648685-A-C c.161A>C p.N54T Missense 4/10 - 1
17-1648686-C-T c.162C>T p.N54= Synonymous 4/10 - 1
17-1648687-C-T c.163C>T p.Q55* Nonsense 4/10 - 4
17-1648693-C-A c.165+4C>A - IntronicSNV - 4/9 1
17-1648693-C-T c.165+4C>T - IntronicSNV - 4/9 1
17-1648694-A-G c.165+5A>G - IntronicSNV - 4/9 1
17-1648750-A-G c.165+61A>G - IntronicSNV - 4/9 1
17-1648755-T-G c.165+66T>G - IntronicSNV - 4/9 1
17-1648756-C-G c.165+67C>G - IntronicSNV - 4/9 1
17-1648763-T-G c.165+74T>G - IntronicSNV - 4/9 2
17-1649005-CCT-TAA c.169_171delinsTAA p.P57* Nonsense 5/10 - 1
17-1649009-G-C c.173G>C p.G58A Missense 5/10 - 1
17-1649012-G-A c.176G>A p.G59D Missense 5/10 - 3
17-1649016-G-T c.180G>T p.Q60H Missense 5/10 - 1
17-1649017-AC-CA c.181_182delinsCA p.T61H Missense 5/10 - 2
17-1649022-C-T c.186C>T p.A62= Synonymous 5/10 - 4
17-1649023-CTG-TTT c.187_189delinsTTT p.L63F Missense 5/10 - 1
17-1649028-G-C c.192G>C p.K64N Missense 5/10 - 1
17-1649032-C-A c.196C>A p.P66T Missense 5/10 - 1
17-1649032-C-T c.196C>T p.P66S Missense 5/10 - 5
17-1649038-G-A c.202G>A p.G68R Missense 5/10 - 2
17-1649038-G-C c.202G>C p.G68R Missense 5/10 - 1
17-1649038-GG-AA c.202_203delinsAA p.G68K Missense 5/10 - 1
17-1649039-G-A c.203G>A p.G68E Missense 5/10 - 1
17-1649041-GT-AA c.205_206delinsAA p.V69N Missense 5/10 - 2
17-1649041-GT-AG c.205_206delinsAG p.V69S Missense 5/10 - 1
17-1649042-T-G c.206T>G p.V69G Missense 5/10 - 1
17-1649050-AG-GC c.214_215delinsGC p.R72A Missense 5/10 - 1
17-1649054-A-C c.218A>C p.D73A Missense 5/10 - 1
17-1649057-C-T c.221C>T p.P74L Missense 5/10 - 1
17-1649059-A-G c.223A>G p.T75A Missense 5/10 - 1
17-1649060-C-T c.224C>T p.T75I Missense 5/10 - 1
17-1649063-C-A c.227C>A p.P76Q Missense 5/10 - 1
17-1649063-C-T c.227C>T p.P76L Missense 5/10 - 2
17-1649065-G-A c.229G>A p.E77K Missense 5/10 - 1
17-1649067-G-A c.231G>A p.E77= Synonymous 5/10 - 1
17-1649071-A-C c.235A>C p.T79P Missense 5/10 - 1
17-1649074-C-A c.238C>A p.H80N Missense 5/10 - 1
17-1649074-CAC-AAG c.238_240delinsAAG p.H80K Missense 5/10 - 1
17-1649074-CA-GC c.238_239delinsGC p.H80A Missense 5/10 - 1
17-1649076-C-G c.240C>G p.H80Q Missense 5/10 - 1
17-1649082-G-A c.246G>A p.L82= Synonymous 5/10 - 1
17-1649083-G-T c.247G>T p.A83S Missense 5/10 - 1
17-1649085-C-A c.249C>A p.A83= Synonymous 5/10 - 1
17-1649085-C-G c.249C>G p.A83= Synonymous 5/10 - 1
17-1649085-C-T c.249C>T p.A83= Synonymous 5/10 - 1
17-1649090-C-G c.254C>G p.A85G Missense 5/10 - 2
17-1649091-C-G c.255C>G p.A85= Synonymous 5/10 - 1
17-1649093-T-C c.257T>C p.M86T Missense 5/10 - 4
17-1649094-G-A c.258G>A p.M86I Missense 5/10 - 1
17-1649098-GC-TT c.262_263delinsTT p.A88F Missense 5/10 - 1
17-1649102-TC-AA c.266_267delinsAA p.F89* Nonsense 5/10 - 1
17-1649103-C-T c.267C>T p.F89= Synonymous 5/10 - 2
17-1649104-AC-GA c.268_269delinsGA p.T90D Missense 5/10 - 1
17-1649109-C-A c.273C>A p.A91= Synonymous 5/10 - 2
17-1649109-C-G c.273C>G p.A91= Synonymous 5/10 - 2
17-1649109-C-T c.273C>T p.A91= Synonymous 5/10 - 2
17-1649110-G-A c.274G>A p.D92N Missense 5/10 - 9
17-1649110-G-T c.274G>T p.D92Y Missense 5/10 - 1
17-1649113-C-A c.277C>A p.L93M Missense 5/10 - 2
17-1649115-G-C c.279G>C p.L93= Synonymous 5/10 - 1
17-1649116-TT-GA c.280_281delinsGA p.F94D Missense 5/10 - 1
17-1649118-C-T c.282C>T p.F94= Synonymous 5/10 - 1
17-1649121-C-A c.285C>A p.S95= Synonymous 5/10 - 1
17-1649121-C-G c.285C>G p.S95= Synonymous 5/10 - 1
17-1649121-C-T c.285C>T p.S95= Synonymous 5/10 - 1
17-1649126-T-G c.290T>G p.V97G Missense 5/10 - 1
17-1649128-G-A c.292G>A p.A98T Missense 5/10 - 1
17-1649129-C-G c.293C>G p.A98G Missense 5/10 - 2
17-1649129-C-T c.293C>T p.A98V Missense 5/10 - 1
17-1649135-C-A c.299C>A p.T100K Missense 5/10 - 1
17-1649135-C-T c.299C>T p.T100M Missense 5/10 - 2
17-1649136-G-A c.300G>A p.T100= Synonymous 5/10 - 2
17-1649136-G-C c.300G>C p.T100= Synonymous 5/10 - 1
17-1649136-G-T c.300G>T p.T100= Synonymous 5/10 - 1
17-1649137-T-A c.301T>A p.S101T Missense 5/10 - 2
17-1649137-TC-AA c.301_302delinsAA p.S101N Missense 5/10 - 1
17-1649137-TC-GA c.301_302inv p.S101D Missense 5/10 - 1
17-1649137-TC-GG c.301_302delinsGG p.S101G Missense 5/10 - 1
17-1649139-C-T c.303C>T p.S101= Synonymous 5/10 - 3
17-1649140-AC-TG c.304_305delinsTG p.T102C Missense 5/10 - 2
17-1649144-G-A c.308G>A p.C103Y Missense 5/10 - 1
17-1649147-C-T c.311C>T p.P104L Missense 5/10 - 1
17-1649151-C-T c.315C>T p.N105= Synonymous 5/10 - 1
17-1649155-ATC-GAG c.319_321delinsGAG p.I107E Missense 5/10 - 1
17-1649156-T-C c.320T>C p.I107T Missense 5/10 - 1
17-1649158-C-A c.322C>A p.L108M Missense 5/10 - 2
17-1649158-C-T c.322C>T p.L108= Synonymous 5/10 - 2
17-1649162-C-T c.326C>T p.S109L Missense 5/10 - 1
17-1649165-C-T c.329C>T p.P110L Missense 5/10 - 2
17-1649167-C-A c.331C>A p.L111M Missense 5/10 - 1
17-1649173-G-A c.337G>A p.V113M Missense 5/10 - 1
17-1649176-G-A c.340G>A p.A114T Missense 5/10 - 1
17-1649175-GGCCCTGGCGCTGTCTCACCTGGCACTA-G c.341_367del p.A114_L122del SpliceDonorDeletion 5/10 - 1
17-1649177-CC-AG c.341_342delinsAG p.A114E Missense 5/10 - 1
17-1649182-G-A c.346G>A p.A116T Missense 5/10 - 1
17-1649183-C-G c.347C>G p.A116G Missense 5/10 - 1
17-1649183-C-T c.347C>T p.A116V Missense 5/10 - 2
17-1649188-T-G c.352T>G p.S118A Missense 5/10 - 1
17-1649192-A-T c.356A>T p.H119L Missense 5/10 - 1
17-1649200-C-G c.364C>G p.L122V Missense 5/10 - 2
17-1649201-T-C c.365T>C p.L122P Missense 5/10 - 3
17-1649208-C-A c.367+5C>A - IntronicSNV - 5/9 1
17-1649238-TG-T c.367+38del - IntronicDeletion - 5/9 3
17-1649259-G-C c.367+56G>C - IntronicSNV - 5/9 7
17-1649259-G-T c.367+56G>T - IntronicSNV - 5/9 5
17-1649267-A-G c.367+64A>G - IntronicSNV - 5/9 6
17-1649267-A-T c.367+64A>T - IntronicSNV - 5/9 4
17-1649283-G-A c.367+80G>A - IntronicSNV - 5/9 1
17-1649365-A-G c.367+162A>G - IntronicSNV - 5/9 2
17-1649486-C-G c.367+283C>G - IntronicSNV - 5/9 2
17-1649502-C-T c.367+299C>T - IntronicSNV - 5/9 2
17-1650125-T-C c.368-188T>C - IntronicSNV - 5/9 1
17-1650125-T-G c.368-188T>G - IntronicSNV - 5/9 1
17-1650168-C-G c.368-145C>G - IntronicSNV - 5/9 1
17-1650168-C-T c.368-145C>T - IntronicSNV - 5/9 1
17-1650313-G-C c.368G>C p.G123A Missense 6/10 - 1
17-1650318-C-A c.373C>A p.Q125K Missense 6/10 - 1
17-1650320-G-C c.375G>C p.Q125H Missense 6/10 - 1
17-1650320-G-T c.375G>T p.Q125H Missense 6/10 - 1
17-1650328-C-T c.383C>T p.T128M Missense 6/10 - 1
17-1650336-AG-CT c.391_392inv p.R131L Missense 6/10 - 1
17-1650336-A-T c.391A>T p.R131W Missense 6/10 - 1
17-1650337-G-T c.392G>T p.R131M Missense 6/10 - 3
17-1650336-A-C c.391A>C p.R131= Synonymous 6/10 - 1
17-1650338-G-A c.393G>A p.R131= Synonymous 6/10 - 1
17-1650339-C-G c.394C>G p.L132V Missense 6/10 - 1
17-1650341-G-T c.396G>T p.L132= Synonymous 6/10 - 1
17-1650344-A-C c.399A>C p.Q133H Missense 6/10 - 1
17-1650344-A-T c.399A>T p.Q133H Missense 6/10 - 1
17-1650345-C-T c.400C>T p.Q134* Nonsense 6/10 - 1
17-1650347-G-C c.402G>C p.Q134H Missense 6/10 - 1
17-1650347-G-T c.402G>T p.Q134H Missense 6/10 - 2
17-1650348-G-T c.403G>T p.V135L Missense 6/10 - 1
17-1650349-T-C c.404T>C p.V135A Missense 6/10 - 1
17-1650351-C-A c.406C>A p.L136M Missense 6/10 - 1
17-1650354-C-T c.409C>T p.H137Y Missense 6/10 - 1
17-1650356-C-A c.411C>A p.H137Q Missense 6/10 - 4
17-1650356-C-G c.411C>G p.H137Q Missense 6/10 - 2
17-1650360-G-T c.415G>T p.G139C Missense 6/10 - 1
17-1650361-G-T c.416G>T p.G139V Missense 6/10 - 1
17-1650363-TCA-AAC c.418_420delinsAAC p.S140N Missense 6/10 - 1
17-1650369-C-T c.424C>T p.P142S Missense 6/10 - 1
17-1650373-G-A c.428G>A p.C143Y Missense 6/10 - 1
17-1650376-TCCC-T c.434_436del p.P145del InFrameDeletion 6/10 - 1
17-1650379-C-T c.434C>T p.P145L Missense 6/10 - 1
17-1650380-C-A c.435C>A p.P145= Synonymous 6/10 - 1
17-1650380-C-G c.435C>G p.P145= Synonymous 6/10 - 2
17-1650380-C-T c.435C>T p.P145= Synonymous 6/10 - 1
17-1650381-C-A c.436C>A p.H146N Missense 6/10 - 1
17-1650381-C-T c.436C>T p.H146Y Missense 6/10 - 1
17-1650383-T-A c.438T>A p.H146Q Missense 6/10 - 1
17-1650383-T-G c.438T>G p.H146Q Missense 6/10 - 1
17-1650387-C-A c.442C>A p.L148M Missense 6/10 - 1
17-1650390-AG-GC c.445_446delinsGC p.S149A Missense 6/10 - 2
17-1650394-G-C c.449G>C p.R150P Missense 6/10 - 1
17-1650400-G-A c.455G>A p.C152Y Missense 6/10 - 4
17-1650407-C-A c.462C>A p.D154E Missense 6/10 - 1
17-1650407-C-G c.462C>G p.D154E Missense 6/10 - 1
17-1650407-C-T c.462C>T p.D154= Synonymous 6/10 - 2
17-1650409-T-C c.464T>C p.L155P Missense 6/10 - 1
17-1650417-G-A c.472G>A p.G158S Missense 6/10 - 1
17-1650420-G-A c.475G>A p.A159T Missense 6/10 - 2
17-1650427-G-A c.482G>A p.R161Q Missense 6/10 - 4
17-1650434-T-A c.489T>A p.A163= Synonymous 6/10 - 1
17-1650434-T-C c.489T>C p.A163= Synonymous 6/10 - 1
17-1650434-T-G c.489T>G p.A163= Synonymous 6/10 - 1
17-1650435-G-T c.490G>T p.A164S Missense 6/10 - 1
17-1650436-C-G c.491C>G p.A164G Missense 6/10 - 1
17-1650443-G-A c.498G>A p.M166I Missense 6/10 - 1
17-1650450-CA-GC c.505_506delinsGC p.Q169A Missense 6/10 - 1
17-1650452-G-C c.507G>C p.Q169H Missense 6/10 - 1
17-1650452-G-T c.507G>T p.Q169H Missense 6/10 - 1
17-1650453-A-C c.508A>C p.K170Q Missense 6/10 - 1
17-1650456-G-T c.511G>T p.G171* Nonsense 6/10 - 2
17-1650603-G-T c.512G>T p.G171V Missense 7/10 - 1
17-1650610-C-T c.519C>T p.P173= Synonymous 7/10 - 1
17-1650612-TC-AG c.521_522delinsAG p.I174K Missense 7/10 - 1
17-1650614-A-G c.523A>G p.K175E Missense 7/10 - 1
17-1650617-G-C c.526G>C p.E176Q Missense 7/10 - 4
17-1650618-A-T c.527A>T p.E176V Missense 7/10 - 1
17-1650614-AAAG-A c.528_530del p.E176del InFrameDeletion 7/10 - 2
17-1650623-T-A c.532T>A p.F178I Missense 7/10 - 1
17-1650625-C-T c.534C>T p.F178= Synonymous 7/10 - 2
17-1650639-A-C c.548A>C p.E183A Missense 7/10 - 1
17-1650642-A-G c.551A>G p.Q184R Missense 7/10 - 2
17-1650652-GGGCAA-G c.561_565del p.K189Rfs*10 Frameshift 7/10 - 1
17-1650653-G-A c.562G>A p.A188T Missense 7/10 - 1
17-1650657-A-G c.566A>G p.K189R Missense 7/10 - 1
17-1650658-G-C c.567G>C p.K189N Missense 7/10 - 1
17-1650658-G-T c.567G>T p.K189N Missense 7/10 - 1
17-1650660-C-T c.569C>T p.P190L Missense 7/10 - 2
17-1650662-G-T c.571G>T p.V191L Missense 7/10 - 1
17-1650666-G-T c.575G>T p.S192I Missense 7/10 - 1
17-1650667-C-T c.576C>T p.S192= Synonymous 7/10 - 1
17-1650672-C-T c.581C>T p.T194M Missense 7/10 - 2
17-1650673-G-A c.582G>A p.T194= Synonymous 7/10 - 1
17-1650673-G-C c.582G>C p.T194= Synonymous 7/10 - 1
17-1650673-G-T c.582G>T p.T194= Synonymous 7/10 - 1
17-1650681-A-T c.590A>T p.Q197L Missense 7/10 - 1
17-1650683-G-A c.592G>A p.E198K Missense 7/10 - 2
17-1650692-C-T c.601C>T p.L201= Synonymous 7/10 - 1
17-1650694-G-A c.603G>A p.L201= Synonymous 7/10 - 1
17-1650694-G-C c.603G>C p.L201= Synonymous 7/10 - 1
17-1650694-G-T c.603G>T p.L201= Synonymous 7/10 - 1
17-1650693-TG-T c.604del p.A202Qfs*7 Frameshift 7/10 - 1
17-1650696-C-T c.605C>T p.A202V Missense 7/10 - 1
17-1650697-A-C c.606A>C p.A202= Synonymous 7/10 - 1
17-1650702-T-A c.611T>A p.I204N Missense 7/10 - 1
17-1650702-T-C c.611T>C p.I204T Missense 7/10 - 6
17-1650709-A-C c.618A>C p.Q206H Missense 7/10 - 1
17-1650709-A-T c.618A>T p.Q206H Missense 7/10 - 1
17-1650713-G-A c.622G>A p.V208M Missense 7/10 - 1
17-1650714-T-C c.623T>C p.V208A Missense 7/10 - 1
17-1650716-A-G c.625A>G p.K209E Missense 7/10 - 1
17-1650719-G-T c.628G>T p.E210* Nonsense 7/10 - 1
17-1650725-A-G c.634A>G p.T212A Missense 7/10 - 2
17-1650732-G-A c.641G>A p.G214E Missense 7/10 - 1
17-1650732-G-T c.641G>T p.G214V Missense 7/10 - 1
17-1650736-G-T c.645G>T p.K215N Missense 7/10 - 1
17-1650737-A-C c.646A>C p.I216L Missense 7/10 - 1
17-1650737-A-G c.646A>G p.I216V Missense 7/10 - 1
17-1650748-C-A c.657C>A p.F219L Missense 7/10 - 1
17-1650748-C-T c.657C>T p.F219= Synonymous 7/10 - 4
17-1650749-C-T c.658C>T p.L220F Missense 7/10 - 5
17-1650750-CT-C c.659del p.L220Pfs*48 Frameshift 7/10 - 1
17-1650755-G-A c.664G>A p.G222R Missense 7/10 - 1
17-1650757-G-A c.666G>A p.G222= Synonymous 7/10 - 1
17-1650761-C-T c.670C>T p.P224S Missense 7/10 - 2
17-1650770-A-G c.679A>G p.T227A Missense 7/10 - 4
17-1650773-G-T c.682G>T p.V228L Missense 7/10 - 2
17-1650779-C-T c.688C>T p.L230F Missense 7/10 - 2
17-1650782-C-G c.691C>G p.L231V Missense 7/10 - 1
17-1650784-C-A c.693C>A p.L231= Synonymous 7/10 - 2
17-1650787-C-A c.696C>A p.L232= Synonymous 7/10 - 1
17-1650787-C-G c.696C>G p.L232= Synonymous 7/10 - 1
17-1650787-C-T c.696C>T p.L232= Synonymous 7/10 - 1
17-1650788-AAC-CAA c.697_699delinsCAA p.N233Q Missense 7/10 - 1
17-1650795-T-C c.704T>C p.I235T Missense 7/10 - 1
17-1651018-C-T c.715+212C>T - IntronicSNV - 7/9 1
17-1651697-T-C c.716-195T>C - IntronicSNV - 7/9 1
17-1651780-A-G c.716-112A>G - IntronicSNV - 7/9 6
17-1651786-C-T c.716-106C>T - IntronicSNV - 7/9 1
17-1651894-T-C c.718T>C p.F240L Missense 8/10 - 1
17-1651896-C-A c.720C>A p.F240L Missense 8/10 - 1
17-1651896-C-G c.720C>G p.F240L Missense 8/10 - 1
17-1651901-G-A c.725G>A p.R242K Missense 8/10 - 3
17-1651905-C-G c.729C>G p.N243K Missense 8/10 - 1
17-1651914-C-A c.738C>A p.D246E Missense 8/10 - 3
17-1651917-G-A c.741G>A p.P247= Synonymous 8/10 - 2
17-1651917-G-C c.741G>C p.P247= Synonymous 8/10 - 1
17-1651917-G-T c.741G>T p.P247= Synonymous 8/10 - 2
17-1651919-G-A c.743G>A p.S248N Missense 8/10 - 3
17-1651929-G-A c.753G>A p.Q251= Synonymous 8/10 - 2
17-1651933-G-A c.757G>A p.D253N Missense 8/10 - 1
17-1651950-C-A c.774C>A p.D258E Missense 8/10 - 1
17-1651950-C-G c.774C>G p.D258E Missense 8/10 - 1
17-1651951-G-A c.775G>A p.E259K Missense 8/10 - 2
17-1651961-C-T c.785C>T p.T262M Missense 8/10 - 1
17-1651965-G-A c.789G>A p.V263= Synonymous 8/10 - 2
17-1651965-G-C c.789G>C p.V263= Synonymous 8/10 - 1
17-1651965-G-T c.789G>T p.V263= Synonymous 8/10 - 1
17-1651967-C-T c.791C>T p.P264L Missense 8/10 - 3
17-1651968-C-T c.792C>T p.P264= Synonymous 8/10 - 1
17-1651969-G-A c.793G>A p.V265M Missense 8/10 - 2
17-1651974-A-C c.798A>C p.E266D Missense 8/10 - 1
17-1651974-A-T c.798A>T p.E266D Missense 8/10 - 1
17-1651977-G-C c.801G>C p.M267I Missense 8/10 - 1
17-1651980-G-GTA c.804_805insTA p.Q269Yfs*29 Frameshift 8/10 - 1
17-1651984-G-A c.808G>A p.A270T Missense 8/10 - 1
17-1651986-C-T c.810C>T p.A270= Synonymous 8/10 - 3
17-1651987-C-T c.811C>T p.R271C Missense 8/10 - 1
17-1651988-G-A c.812G>A p.R271H Missense 8/10 - 2
17-1651988-G-C c.812G>C p.R271P Missense 8/10 - 2
17-1651991-C-T c.815C>T p.T272M Missense 8/10 - 3
17-1651992-G-A c.816G>A p.T272= Synonymous 8/10 - 2
17-1651992-G-C c.816G>C p.T272= Synonymous 8/10 - 2
17-1651992-G-T c.816G>T p.T272= Synonymous 8/10 - 2
17-1652002-C-G c.826C>G p.R276G Missense 8/10 - 1
17-1652002-C-T c.826C>T p.R276C Missense 8/10 - 1
17-1652003-G-A c.827G>A p.R276H Missense 8/10 - 1
17-1652013-G-A c.837G>A p.L279= Synonymous 8/10 - 1
17-1652014-C-T c.838C>T p.L280= Synonymous 8/10 - 1
17-1652016-G-A c.840G>A p.L280= Synonymous 8/10 - 1
17-1652016-G-C c.840G>C p.L280= Synonymous 8/10 - 1
17-1652016-G-T c.840G>T p.L280= Synonymous 8/10 - 1
17-1652017-G-T c.841G>T p.E281* Nonsense 8/10 - 1
17-1652018-A-T c.842A>T p.E281V Missense 8/10 - 1
17-1652177-G-T c.858+143G>T - IntronicSNV - 8/9 1
17-1652444-G-A c.858+410G>A - IntronicSNV - 8/9 1
17-1652483-T-A c.858+449T>A - IntronicSNV - 8/9 2
17-1652877-T-C c.858+843T>C - IntronicSNV - 8/9 1
17-1652877-T-G c.858+843T>G - IntronicSNV - 8/9 1
17-1653091-G-A c.858+1057G>A - IntronicSNV - 8/9 1
17-1653979-C-T c.859-1901C>T - IntronicSNV - 8/9 1
17-1654572-G-A c.859-1308G>A - IntronicSNV - 8/9 1
17-1655127-T-A c.859-753T>A - IntronicSNV - 8/9 1
17-1655127-T-G c.859-753T>G - IntronicSNV - 8/9 1
17-1655880-G-A c.859G>A p.V287M Missense 9/10 - 1
17-1655881-TG-T c.862del p.A288Lfs*9 Frameshift 9/10 - 1
17-1655886-C-T c.865C>T p.H289Y Missense 9/10 - 1
17-1655893-C-T c.872C>T p.P291L Missense 9/10 - 1
17-1655908-T-C c.887T>C p.M296T Missense 9/10 - 1
17-1655911-G-A c.890G>A p.S297N Missense 9/10 - 1
17-1655922-C-T c.901C>T p.L301F Missense 9/10 - 1
17-1655924-T-A c.903T>A p.L301= Synonymous 9/10 - 1
17-1655924-T-C c.903T>C p.L301= Synonymous 9/10 - 1
17-1655924-T-G c.903T>G p.L301= Synonymous 9/10 - 6
17-1655928-C-T c.907C>T p.P303S Missense 9/10 - 1
17-1655931-A-G c.910A>G p.T304A Missense 9/10 - 1
17-1655933-C-A c.912C>A p.T304= Synonymous 9/10 - 3
17-1655933-C-G c.912C>G p.T304= Synonymous 9/10 - 3
17-1655933-C-T c.912C>T p.T304= Synonymous 9/10 - 3
17-1655936-C-A c.915C>A p.H305Q Missense 9/10 - 1
17-1655936-C-G c.915C>G p.H305Q Missense 9/10 - 1
17-1655936-C-T c.915C>T p.H305= Synonymous 9/10 - 1
17-1655943-T-A c.922T>A p.W308R Missense 9/10 - 1
17-1655943-T-C c.922T>C p.W308R Missense 9/10 - 1
17-1655955-C-A c.934C>A p.Q312K Missense 9/10 - 2
17-1655968-A-G c.947A>G p.N316S Missense 9/10 - 1
17-1655986-T-C c.965T>C p.L322P Missense 9/10 - 1
17-1655994-C-T c.973C>T p.P325S Missense 9/10 - 2
17-1655995-C-T c.974C>T p.P325L Missense 9/10 - 1
17-1656006-G-A c.985G>A p.E329K Missense 9/10 - 1
17-1656012-C-T c.991C>T p.P331S Missense 9/10 - 1
17-1656015-A-G c.994A>G p.T332A Missense 9/10 - 1
17-1656016-C-T c.995C>T p.T332I Missense 9/10 - 1
17-1656019-A-G c.998A>G p.K333R Missense 9/10 - 1
17-1656024-C-G c.1003C>G p.R335G Missense 9/10 - 2
17-1656027-CTG-TTT c.1006_1008delinsTTT p.L336F Missense 9/10 - 1
17-1656025-GGCTGCCTAA-G c.1009_1017del p.P337_L339del InFrameDeletion 9/10 - 1
17-1656034-A-T c.1013A>T p.K338M Missense 9/10 - 2
17-1656035-G-C c.1014G>C p.K338N Missense 9/10 - 1
17-1656035-G-T c.1014G>T p.K338N Missense 9/10 - 1
17-1656041-T-G c.1020T>G p.Y340* Nonsense 9/10 - 1
17-1656045-AA-GC c.1024_1025delinsGC p.K342A Missense 9/10 - 1
17-1656056-G-A c.1035G>A p.M345I Missense 9/10 - 1
17-1656056-G-C c.1035G>C p.M345I Missense 9/10 - 1
17-1656056-G-T c.1035G>T p.M345I Missense 9/10 - 1
17-1656057-G-A c.1036G>A p.D346N Missense 9/10 - 1
17-1656059-C-A c.1038C>A p.D346E Missense 9/10 - 1
17-1656059-C-G c.1038C>G p.D346E Missense 9/10 - 1
17-1656215-G-A c.1063+131G>A - IntronicSNV - 9/9 1
17-1657073-T-C c.1064-343T>C - IntronicSNV - 9/9 5
17-1657360-C-T c.1064-56C>T - IntronicSNV - 9/9 1
17-1657424-G-A c.1072G>A p.E358K Missense 10/10 - 2
17-1657434-A-G c.1082A>G p.Q361R Missense 10/10 - 1
17-1657435-G-A c.1083G>A p.Q361= Synonymous 10/10 - 1
17-1657441-A-C c.1089A>C p.P363= Synonymous 10/10 - 2
17-1657441-A-G c.1089A>G p.P363= Synonymous 10/10 - 2
17-1657441-A-T c.1089A>T p.P363= Synonymous 10/10 - 2
17-1657445-C-T c.1093C>T p.L365= Synonymous 10/10 - 1
17-1657447-G-A c.1095G>A p.L365= Synonymous 10/10 - 1
17-1657447-G-C c.1095G>C p.L365= Synonymous 10/10 - 1
17-1657447-G-T c.1095G>T p.L365= Synonymous 10/10 - 1
17-1657448-C-T c.1096C>T p.R366C Missense 10/10 - 1
17-1657449-G-A c.1097G>A p.R366H Missense 10/10 - 1
17-1657451-G-A c.1099G>A p.G367R Missense 10/10 - 1
17-1657451-G-C c.1099G>C p.G367R Missense 10/10 - 1
17-1657452-G-A c.1100G>A p.G367E Missense 10/10 - 1
17-1657455-T-C c.1103T>C p.I368T Missense 10/10 - 2
17-1657456-C-A c.1104C>A p.I368= Synonymous 10/10 - 1
17-1657456-C-T c.1104C>T p.I368= Synonymous 10/10 - 1
17-1657459-C-G c.1107C>G p.S369= Synonymous 10/10 - 1
17-1657459-C-T c.1107C>T p.S369= Synonymous 10/10 - 1
17-1657460-G-A c.1108G>A p.E370K Missense 10/10 - 1
17-1657461-A-C c.1109A>C p.E370A Missense 10/10 - 1
17-1657464-A-G c.1112A>G p.Q371R Missense 10/10 - 1
17-1657465-G-C c.1113G>C p.Q371H Missense 10/10 - 2
17-1657465-G-T c.1113G>T p.Q371H Missense 10/10 - 1
17-1657480-C-A c.1128C>A p.S376= Synonymous 10/10 - 1
17-1657480-C-G c.1128C>G p.S376= Synonymous 10/10 - 1
17-1657480-C-T c.1128C>T p.S376= Synonymous 10/10 - 1
17-1657482-GC-AG c.1130_1131delinsAG p.G377E Missense 10/10 - 1
17-1657483-C-A c.1131C>A p.G377= Synonymous 10/10 - 1
17-1657483-C-G c.1131C>G p.G377= Synonymous 10/10 - 1
17-1657483-C-T c.1131C>T p.G377= Synonymous 10/10 - 1
17-1657487-C-A c.1135C>A p.Q379K Missense 10/10 - 1
17-1657500-C-T c.1148C>T p.T383I Missense 10/10 - 1
17-1657504-G-GT c.1152_1153insT p.E385* Nonsense 10/10 - 1
17-1657507-G-A c.1155G>A p.E385= Synonymous 10/10 - 1
17-1657509-T-A c.1157T>A p.L386H Missense 10/10 - 1
17-1657514-G-A c.1162G>A p.E388K Missense 10/10 - 7
17-1657516-G-A c.1164G>A p.E388= Synonymous 10/10 - 1
17-1657520-G-A c.1168G>A p.G390S Missense 10/10 - 1
17-1657519-C-CGGGCTCTGAGCCCGGGCCACGCAG c.1169_1170insGCTCTGAGCCCGGGCCACGCAGGG p.G390_V391insL* Frameshift 10/10 - 1
17-1657521-G-C c.1169G>C p.G390A Missense 10/10 - 3
17-1657523-G-A c.1171G>A p.V391M Missense 10/10 - 4
17-1657526-G-A c.1174G>A p.E392K Missense 10/10 - 5
17-1657528-G-A c.1176G>A p.E392= Synonymous 10/10 - 2
17-1657530-C-T c.1178C>T p.A393V Missense 10/10 - 1
17-1657532-G-A c.1180G>A p.A394T Missense 10/10 - 1
17-1657533-C-T c.1181C>T p.A394V Missense 10/10 - 1
17-1657536-C-T c.1184C>T p.A395V Missense 10/10 - 3
17-1657527-AGGC-A c.1185_1187del p.A396del InFrameDeletion 10/10 - 1
17-1657539-C-T c.1187C>T p.A396V Missense 10/10 - 4
17-1657540-C-T c.1188C>T p.A396= Synonymous 10/10 - 1
17-1657541-A-G c.1189A>G p.T397A Missense 10/10 - 1
17-1657545-G-A c.1193G>A p.S398N Missense 10/10 - 1
17-1657561-C-A c.1209C>A p.R403= Synonymous 10/10 - 2
17-1657561-C-G c.1209C>G p.R403= Synonymous 10/10 - 1
17-1657561-C-T c.1209C>T p.R403= Synonymous 10/10 - 1
17-1657564-G-A c.1212G>A p.M404I Missense 10/10 - 1
17-1657566-C-T c.1214C>T p.S405F Missense 10/10 - 1
17-1657569-T-C c.1217T>C p.L406P Missense 10/10 - 1
17-1657573-C-A c.1221C>A p.S407= Synonymous 10/10 - 2
17-1657573-C-G c.1221C>G p.S407= Synonymous 10/10 - 1
17-1657573-C-T c.1221C>T p.S407= Synonymous 10/10 - 1
17-1657580-A-C c.1228A>C p.S410R Missense 10/10 - 1
17-1657582-C-A c.1230C>A p.S410R Missense 10/10 - 1
17-1657582-C-G c.1230C>G p.S410R Missense 10/10 - 1
17-1657583-G-A c.1231G>A p.V411M Missense 10/10 - 7
17-1657583-GTG-TTT c.1231_1233delinsTTT p.V411F Missense 10/10 - 1
17-1657585-G-A c.1233G>A p.V411= Synonymous 10/10 - 3
17-1657588-C-T c.1236C>T p.N412= Synonymous 10/10 - 1
17-1657589-C-A c.1237C>A p.R413S Missense 10/10 - 1
17-1657589-C-T c.1237C>T p.R413C Missense 10/10 - 1
17-1657592-C-T c.1240C>T p.P414S Missense 10/10 - 5
17-1657598-C-T c.1246C>T p.L416F Missense 10/10 - 5
17-1657603-C-G c.1251C>G p.F417L Missense 10/10 - 1
17-1657612-C-T c.1260C>T p.F420= Synonymous 10/10 - 7
17-1657620-C-A c.1268C>A p.T423N Missense 10/10 - 1
17-1657620-C-T c.1268C>T p.T423I Missense 10/10 - 1
17-1657626-G-A c.1274G>A p.G425D Missense 10/10 - 1
17-1657629-T-C c.1277T>C p.L426P Missense 10/10 - 1
17-1657631-CCC-TAA c.1279_1281delinsTAA p.P427* Nonsense 10/10 - 1
17-1657631-CC-GG c.1279_1280inv p.P427G Missense 10/10 - 1
17-1657633-C-T c.1281C>T p.P427= Synonymous 10/10 - 3
17-1657634-C-G c.1282C>G p.L428V Missense 10/10 - 1
17-1657637-T-A c.1285T>A p.F429I Missense 10/10 - 2
17-1657637-T-C c.1285T>C p.F429L Missense 10/10 - 1
17-1657639-C-A c.1287C>A p.F429L Missense 10/10 - 1
17-1657639-C-G c.1287C>G p.F429L Missense 10/10 - 1
17-1657639-C-T c.1287C>T p.F429= Synonymous 10/10 - 2
17-1657646-A-G c.1294A>G p.S432G Missense 10/10 - 1
17-1657647-G-T c.1295G>T p.S432I Missense 10/10 - 2
17-1657648-C-T c.1296C>T p.S432= Synonymous 10/10 - 1
17-1657649-G-A c.1297G>A p.V433M Missense 10/10 - 3
17-1657650-T-G c.1298T>G p.V433G Missense 10/10 - 6
17-1657653-G-A c.1301G>A p.R434K Missense 10/10 - 30
17-1657654-G-A c.1302G>A p.R434= Synonymous 10/10 - 1
17-1657656-A-G c.1304A>G p.N435S Missense 10/10 - 1
17-1657658-C-A c.1306C>A p.P436T Missense 10/10 - 4
17-1657659-C-A c.1307C>A p.P436H Missense 10/10 - 1
17-1657663-C-A c.1311C>A p.N437K Missense 10/10 - 2
17-1657663-C-G c.1311C>G p.N437K Missense 10/10 - 4
17-1657663-C-T c.1311C>T p.N437= Synonymous 10/10 - 1
17-1657667-A-C c.1315A>C p.S439R Missense 10/10 - 3
17-1657668-G-A c.1316G>A p.S439N Missense 10/10 - 1
17-1657669-T-A c.1317T>A p.S439R Missense 10/10 - 6
17-1657669-T-G c.1317T>G p.S439R Missense 10/10 - 2
17-1657674-C-T c.1322C>T p.P441L Missense 10/10 - 1
17-1657677-G-A c.1325G>A p.R442Q Missense 10/10 - 1
17-1657685-A-C c.1333A>C p.K445Q Missense 10/10 - 1
17-1657687-G-C c.1335G>C p.K445N Missense 10/10 - 1
17-1657687-G-T c.1335G>T p.K445N Missense 10/10 - 3
17-1657688-G-A c.1336G>A p.E446K Missense 10/10 - 1
17-1657697-G-A c.1345G>A p.D449N Missense 10/10 - 1
17-1657698-A-G c.1346A>G p.D449G Missense 10/10 - 1
17-1657702-C-A c.1350C>A p.S450= Synonymous 10/10 - 1
17-1657702-C-G c.1350C>G p.S450= Synonymous 10/10 - 1
17-1657702-C-T c.1350C>T p.S450= Synonymous 10/10 - 2
17-1657703-C-T c.1351C>T p.P451S Missense 10/10 - 3
17-1657704-C-G c.1352C>G p.P451R Missense 10/10 - 2
17-1657704-C-T c.1352C>T p.P451L Missense 10/10 - 3
17-1657710-A-G c.1358A>G p.N453S Missense 10/10 - 1
17-1657711-C-T c.1359C>T p.N453= Synonymous 10/10 - 2
17-1657714-G-A c.1362G>A p.K454= Synonymous 10/10 - 1
17-1657714-G-T c.1362G>T p.K454N Missense 10/10 - 1
17-1657716-A-G c.1364A>G p.D455G Missense 10/10 - 1
17-1657720-C-G c.1368C>G p.F456L Missense 10/10 - 1
17-1657720-CC-GT c.1368_1369delinsGT p.F456_L457delinsLF MultiAAMissense 10/10 - 1
17-1657722-T-C c.1370T>C p.L457P Missense 10/10 - 1
17-1657724-C-A c.1372C>A p.Q458K Missense 10/10 - 1
17-1657727-A-G c.1375A>G p.S459G Missense 10/10 - 1
17-1657727-AG-GT c.1375_1376delinsGT p.S459V Missense 10/10 - 1
17-1657728-G-A c.1376G>A p.S459N Missense 10/10 - 1
17-1657732-G-A c.1380G>A p.L460= Synonymous 10/10 - 3
17-1657736-G-A c.1384G>A p.G462S Missense 10/10 - 1
17-1657736-G-C c.1384G>C p.G462R Missense 10/10 - 1
17-1657737-G-A c.1385G>A p.G462D Missense 10/10 - 1
17-1657737-G-T c.1385G>T p.G462V Missense 10/10 - 1
17-1657741-C-A c.1389C>A p.F463L Missense 10/10 - 2
17-1657743-C-T c.1391C>T p.P464L Missense 10/10 - 1
17-1657744-C-G c.1392C>G p.P464= Synonymous 10/10 - 1
17-1657745-C-A c.1393C>A p.R465S Missense 10/10 - 2
17-1657745-C-G c.1393C>G p.R465G Missense 10/10 - 1
17-1657745-C-T c.1393C>T p.R465C Missense 10/10 - 1
17-1657746-G-A c.1394G>A p.R465H Missense 10/10 - 3
17-1657746-G-C c.1394G>C p.R465P Missense 10/10 - 3
17-1657747-C-A c.1395C>A p.R465= Synonymous 10/10 - 1
17-1657747-C-G c.1395C>G p.R465= Synonymous 10/10 - 1
17-1657747-C-T c.1395C>T p.R465= Synonymous 10/10 - 3
17-1657748-G-A c.1396G>A p.G466R Missense 10/10 - 1
17-1657749-G-A c.1397G>A p.G466E Missense 10/10 - 3
17-1657749-G-C c.1397G>C p.G466A Missense 10/10 - 1
17-1657760-T-C c.1408T>C p.F470L Missense 10/10 - 1
17-1657762-C-A c.1410C>A p.F470L Missense 10/10 - 1
17-1657762-C-G c.1410C>G p.F470L Missense 10/10 - 1
17-1657761-T-C c.1409T>C p.F470S Missense 10/10 - 2
17-1657762-C-T c.1410C>T p.F470= Synonymous 10/10 - 2
17-1657763-G-A c.1411G>A p.G471S Missense 10/10 - 1
17-1657767-C-T c.1415C>T p.P472L Missense 10/10 - 1
17-1657771-C-T c.1419C>T p.D473= Synonymous 10/10 - 1
17-1657772-T-C c.1420T>C p.L474= Synonymous 10/10 - 4
17-1657774-A-G c.1422A>G p.L474= Synonymous 10/10 - 1
17-1657778-C-A c.1426C>A p.L476I Missense 10/10 - 2
17-1657778-C-T c.1426C>T p.L476F Missense 10/10 - 2
17-1657781-GTG-TTT c.1429_1431delinsTTT p.V477F Missense 10/10 - 1
17-1657782-T-C c.1430T>C p.V477A Missense 10/10 - 1
17-1657783-G-A c.1431G>A p.V477= Synonymous 10/10 - 2
17-1657787-C-G c.1435C>G p.P479A Missense 10/10 - 1
17-1657788-C-A c.1436C>A p.P479H Missense 10/10 - 1
17-1657793-G-A c.1441G>A p.E481K Missense 10/10 - 1
17-1657796-G-A c.1444G>A p.E482K Missense 10/10 - 1
17-1657799-G-A c.1447G>A p.D483N Missense 10/10 - 2
17-1657804-C-T c.1452C>T p.Y484= Synonymous 10/10 - 3
17-1657807-C-T c.1455C>T p.P485= Synonymous 10/10 - 1
17-1657814-G-A c.1462G>A p.G488S Missense 10/10 - 1
17-1657818-G-A c.1466G>A p.S489N Missense 10/10 - 2
17-1657819-C-T c.1467C>T p.S489= Synonymous 10/10 - 2
17-1657824-A-C c.1472A>C p.K491T Missense 10/10 - 1
17-1657899-G-A c.*71G>A - 3-UTRSNV 10/10 - 11
17-1657899-G-T c.*71G>T - 3-UTRSNV 10/10 - 11
17-1657980-G-C c.*152G>C - 3-UTRSNV 10/10 - 1
17-1657980-G-T c.*152G>T - 3-UTRSNV 10/10 - 1
17-1658155-G-A c.*327G>A - 3-UTRSNV 10/10 - 1
17-1658212-G-T c.*384G>T - 3-UTRSNV 10/10 - 1