ERBB2 erb-b2 receptor tyrosine kinase 2

Canonical transcript: NM_004448

799 unique variant annotations were identified in 903 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
17-37856516-T-G c.25T>G p.Trp9Gly Missense 1/27 - 1
17-37856517-G-A c.26G>A p.Trp9* Nonsense 1/27 - 1
17-37856526-T-G c.35T>G p.Leu12Arg Missense 1/27 - 1
17-37856528-CT-GC c.37_38delinsGC p.Leu13Ala Missense 1/27 - 3
17-37856531-GCC-TAA c.40_42delinsTAA p.Ala14* Nonsense 1/27 - 1
17-37856531-G-C c.40G>C p.Ala14Pro Missense 1/27 - 1
17-37856531-GC-TA c.40_41delinsTA p.Ala14Tyr Missense 1/27 - 1
17-37856532-CC-AG c.41_42delinsAG p.Ala14Glu Missense 1/27 - 1
17-37856532-C-T c.41C>T p.Ala14Val Missense 1/27 - 1
17-37856533-C-T c.42C>T p.Ala14Ala Synonymous 1/27 - 1
17-37856533-C-A c.42C>A p.Ala14Ala Synonymous 1/27 - 1
17-37856533-C-G c.42C>G p.Ala14Ala Synonymous 1/27 - 1
17-37856534-C-T c.43C>T p.Leu15Phe Missense 1/27 - 1
17-37856541-C-T c.50C>T p.Pro17Leu Missense 1/27 - 2
17-37856542-C-T c.51C>T p.Pro17Pro Synonymous 1/27 - 6
17-37856542-C-G c.51C>G p.Pro17Pro Synonymous 1/27 - 6
17-37856542-C-A c.51C>A p.Pro17Pro Synonymous 1/27 - 6
17-37856543-CC-GA c.52_53delinsGA p.Pro18Asp Missense 1/27 - 1
17-37856543-C-A c.52C>A p.Pro18Thr Missense 1/27 - 1
17-37856549-GC-TG c.58_59delinsTG p.Ala20Cys Missense 1/27 - 1
17-37856549-GC-TT c.58_59delinsTT p.Ala20Phe Missense 1/27 - 1
17-37856549-G-A c.58G>A p.Ala20Thr Missense 1/27 - 1
17-37856550-CC-AG c.59_60delinsAG p.Ala20Glu Missense 1/27 - 1
17-37856550-C-A c.59C>A p.Ala20Asp Missense 1/27 - 2
17-37856551-C-A c.60C>A p.Ala20Ala Synonymous 1/27 - 1
17-37856551-C-T c.60C>T p.Ala20Ala Synonymous 1/27 - 1
17-37856551-C-G c.60C>G p.Ala20Ala Synonymous 1/27 - 1
17-37856553-C-G c.62C>G p.Ala21Gly Missense 1/27 - 1
17-37856555-AG-GC c.64_65delinsGC p.Ser22Ala Missense 1/27 - 2
17-37856556-G-A c.65G>A p.Ser22Asn Missense 1/27 - 1
17-37856561-CAA-GAC c.70_72delinsGAC p.Gln24Asp Missense 1/27 - 1
17-37858678-A-G c.73+2114A>G - IntronicSNV - 1/26 2
17-37858678-A-T c.73+2114A>T - IntronicSNV - 1/26 2
17-37859083-G-C c.73+2519G>C - IntronicSNV - 1/26 1
17-37861718-T-G c.74-1525T>G - IntronicSNV - 1/26 9
17-37861718-T-C c.74-1525T>C - IntronicSNV - 1/26 9
17-37863245-TG-AC c.76_77delinsAC p.Cys26Thr Missense 2/27 - 1
17-37863245-TG-GC c.76_77delinsGC p.Cys26Ala Missense 2/27 - 2
17-37863246-G-C c.77G>C p.Cys26Ser Missense 2/27 - 1
17-37863245-T-A c.76T>A p.Cys26Ser Missense 2/27 - 1
17-37863257-GAC-AAG c.88_90delinsAAG p.Asp30Lys Missense 2/27 - 1
17-37863259-C-T c.90C>T p.Asp30Asp Synonymous 2/27 - 1
17-37863263-AA-GC c.94_95delinsGC p.Lys32Ala Missense 2/27 - 1
17-37863270-G-A c.101G>A p.Arg34Gln Missense 2/27 - 1
17-37863275-CC-GA c.106_107delinsGA p.Pro36Asp Missense 2/27 - 1
17-37863278-G-T c.109G>T p.Ala37Ser Missense 2/27 - 1
17-37863278-G-A c.109G>A p.Ala37Thr Missense 2/27 - 1
17-37863287-G-A c.118G>A p.Glu40Lys Missense 2/27 - 2
17-37863289-G-T c.120G>T p.Glu40Asp Missense 2/27 - 1
17-37863289-G-C c.120G>C p.Glu40Asp Missense 2/27 - 1
17-37863295-C-A c.126C>A p.His42Gln Missense 2/27 - 1
17-37863295-C-G c.126C>G p.His42Gln Missense 2/27 - 1
17-37863302-AT-GA c.133_134delinsGA p.Met45Glu Missense 2/27 - 1
17-37863305-CT-AG c.136_137inv p.Leu46Ser Missense 2/27 - 1
17-37863305-CT-TG c.136_137delinsTG p.Leu46Cys Missense 2/27 - 1
17-37863305-CTC-AAG c.136_138delinsAAG p.Leu46Lys Missense 2/27 - 1
17-37863308-C-A c.139C>A p.Arg47Ser Missense 2/27 - 1
17-37863309-G-A c.140G>A p.Arg47His Missense 2/27 - 3
17-37863315-T-G c.146T>G p.Leu49Arg Missense 2/27 - 1
17-37863315-T-A c.146T>A p.Leu49His Missense 2/27 - 1
17-37863323-GGC-TGG c.154_156delinsTGG p.Gly52Trp Missense 2/27 - 1
17-37863339-A-G c.170A>G p.Gln57Arg Missense 2/27 - 1
17-37863350-G-T c.181G>T p.Glu61* Nonsense 2/27 - 1
17-37863351-A-G c.182A>G p.Glu61Gly Missense 2/27 - 1
17-37863352-A-C c.183A>C p.Glu61Asp Missense 2/27 - 1
17-37863372-A-G c.203A>G p.Asn68Ser Missense 2/27 - 1
17-37863374-G-T c.205G>T p.Ala69Ser Missense 2/27 - 1
17-37863376-C-T c.207C>T p.Ala69Ala Synonymous 2/27 - 1
17-37863376-C-A c.207C>A p.Ala69Ala Synonymous 2/27 - 1
17-37863376-C-G c.207C>G p.Ala69Ala Synonymous 2/27 - 1
17-37863383-T-G c.214T>G p.Ser72Ala Missense 2/27 - 1
17-37863389-C-A c.220C>A p.Leu74Met Missense 2/27 - 3
17-37864584-A-C c.236A>C p.Glu79Ala Missense 3/27 - 1
17-37864589-C-G c.241C>G p.Gln81Glu Missense 3/27 - 1
17-37864593-G-A c.245G>A p.Gly82Asp Missense 3/27 - 1
17-37864598-G-T c.250G>T p.Val84Leu Missense 3/27 - 2
17-37864598-G-C c.250G>C p.Val84Leu Missense 3/27 - 2
17-37864607-GC-TT c.259_260delinsTT p.Ala87Phe Missense 3/27 - 2
17-37864608-C-A c.260C>A p.Ala87Asp Missense 3/27 - 1
17-37864622-AG-CA c.274_275delinsCA p.Arg92Gln Missense 3/27 - 1
17-37864627-G-A c.279G>A p.Gln93Gln Synonymous 3/27 - 1
17-37864628-G-A c.280G>A p.Val94Ile Missense 3/27 - 1
17-37864631-CCA-ATG c.283_285delinsATG p.Pro95Met Missense 3/27 - 1
17-37864631-CCA-AAC c.283_285delinsAAC p.Pro95Asn Missense 3/27 - 1
17-37864637-C-A c.289C>A p.Gln97Lys Missense 3/27 - 1
17-37864646-C-T c.298C>T p.Arg100Trp Missense 3/27 - 1
17-37864646-CGG-GAC c.298_300delinsGAC p.Arg100Asp Missense 3/27 - 1
17-37864652-GTG-TGT c.304_306delinsTGT p.Val102Cys Missense 3/27 - 1
17-37864653-T-C c.305T>C p.Val102Ala Missense 3/27 - 2
17-37864654-G-A c.306G>A p.Val102Val Synonymous 3/27 - 2
17-37864654-G-C c.306G>C p.Val102Val Synonymous 3/27 - 2
17-37864654-G-T c.306G>T p.Val102Val Synonymous 3/27 - 2
17-37864656-G-A c.308G>A p.Arg103Gln Missense 3/27 - 3
17-37864656-G-T c.308G>T p.Arg103Leu Missense 3/27 - 1
17-37864659-G-A c.311G>A p.Gly104Asp Missense 3/27 - 1
17-37864667-C-T c.319C>T p.Leu107Phe Missense 3/27 - 1
17-37864679-AA-GC c.331_332delinsGC p.Asn111Ala Missense 3/27 - 1
17-37864694-GTG-TAT c.346_348delinsTAT p.Val116Tyr Missense 3/27 - 1
17-37864702-C-T c.354C>T p.Asp118Asp Synonymous 3/27 - 1
17-37864706-GG-AT c.358_359delinsAT p.Gly120Ile Missense 3/27 - 1
17-37864713-C-T c.365C>T p.Pro122Leu Missense 3/27 - 2
17-37864714-G-A c.366G>A p.Pro122Pro Synonymous 3/27 - 1
17-37864722-A-T c.374A>T p.Asn125Ile Missense 3/27 - 1
17-37864724-AC-TG c.376_377delinsTG p.Thr126Cys Missense 3/27 - 1
17-37864746-CC-AA c.398_399delinsAA p.Ser133* Nonsense 3/27 - 1
17-37864751-GGA-TGT c.403_405delinsTGT p.Gly135Cys Missense 3/27 - 2
17-37864761-G-T c.413G>T p.Arg138Leu Missense 3/27 - 1
17-37864764-A-G c.416A>G p.Glu139Gly Missense 3/27 - 2
17-37864765-G-T c.417G>T p.Glu139Asp Missense 3/27 - 2
17-37864765-G-C c.417G>C p.Glu139Asp Missense 3/27 - 2
17-37864776-G-A c.428G>A p.Arg143Gln Missense 3/27 - 6
17-37864776-G-C c.428G>C p.Arg143Pro Missense 3/27 - 1
17-37865586-G-A c.455G>A p.Gly152Glu Missense 4/27 - 1
17-37865586-G-C c.455G>C p.Gly152Ala Missense 4/27 - 3
17-37865586-G-T c.455G>T p.Gly152Val Missense 4/27 - 1
17-37865597-CA-GC c.466_467delinsGC p.Gln156Ala Missense 4/27 - 1
17-37865600-C-T c.469C>T p.Arg157Trp Missense 4/27 - 2
17-37865619-A-G c.488A>G p.Tyr163Cys Missense 4/27 - 1
17-37865628-C-T c.497C>T p.Thr166Met Missense 4/27 - 1
17-37865648-T-G c.517T>G p.Phe173Val Missense 4/27 - 1
17-37865651-C-T c.520C>T p.His174Tyr Missense 4/27 - 1
17-37865654-AA-GC c.523_524delinsGC p.Lys175Ala Missense 4/27 - 1
17-37865665-G-C c.534G>C p.Gln178His Missense 4/27 - 1
17-37865665-G-A c.534G>A p.Gln178Gln Synonymous 4/27 - 1
17-37865665-G-T c.534G>T p.Gln178His Missense 4/27 - 1
17-37865666-C-T c.535C>T p.Leu179Leu Synonymous 4/27 - 1
17-37865694-G-A c.563G>A p.Arg188His Missense 4/27 - 2
17-37865700-G-A c.569G>A p.Arg190Gln Missense 4/27 - 1
17-37866005-C-T c.575-61C>T - IntronicSNV - 4/26 9
17-37866063-C-T c.575-3C>T - IntronicSNV - 4/26 1
17-37866068-C-A c.577C>A p.His193Asn Missense 5/27 - 1
17-37866071-C-T c.580C>T p.Pro194Ser Missense 5/27 - 1
17-37866083-AT-TA c.592_593delinsTA p.Met198* Nonsense 5/27 - 1
17-37866091-G-C c.600G>C p.Lys200Asn Missense 5/27 - 1
17-37866091-G-T c.600G>T p.Lys200Asn Missense 5/27 - 1
17-37866093-G-A c.602G>A p.Gly201Asp Missense 5/27 - 1
17-37866096-CC-AA c.605_606delinsAA p.Ser202* Nonsense 5/27 - 1
17-37866111-A-C c.620A>C p.Glu207Ala Missense 5/27 - 1
17-37866116-TC-GA c.625_626inv p.Ser209Asp Missense 5/27 - 1
17-37866116-T-G c.625T>G p.Ser209Ala Missense 5/27 - 2
17-37866118-T-C c.627T>C p.Ser209Ser Synonymous 5/27 - 1
17-37866119-GA-AG c.628_629delinsAG p.Glu210Arg Missense 5/27 - 1
17-37866131-AG-GC c.640_641delinsGC p.Ser214Ala Missense 5/27 - 1
17-37866339-TG-AT c.644_645delinsAT p.Leu215His Missense 6/27 - 1
17-37866339-T-G c.644T>G p.Leu215Arg Missense 6/27 - 1
17-37866340-G-T c.645G>T p.Leu215Leu Synonymous 6/27 - 1
17-37866340-G-A c.645G>A p.Leu215Leu Synonymous 6/27 - 1
17-37866340-G-C c.645G>C p.Leu215Leu Synonymous 6/27 - 1
17-37866134-C-T c.643C>T p.Leu215Leu Synonymous 5/27 - 1
17-37866341-A-T c.646A>T p.Thr216Ser Missense 6/27 - 1
17-37866345-G-A c.650G>A p.Arg217His Missense 6/27 - 1
17-37866353-T-A c.658T>A p.Cys220Ser Missense 6/27 - 1
17-37866353-TG-GT c.658_659delinsGT p.Cys220Val Missense 6/27 - 1
17-37866354-G-C c.659G>C p.Cys220Ser Missense 6/27 - 1
17-37866359-G-T c.664G>T p.Gly222Cys Missense 6/27 - 1
17-37866363-G-T c.668G>T p.Gly223Val Missense 6/27 - 1
17-37866371-CGC-GAG c.676_678delinsGAG p.Arg226Glu Missense 6/27 - 1
17-37866371-CG-GC c.676_677delinsGC p.Arg226Ala Missense 6/27 - 1
17-37866372-G-A c.677G>A p.Arg226His Missense 6/27 - 1
17-37866374-T-A c.679T>A p.Cys227Ser Missense 6/27 - 1
17-37866375-G-C c.680G>C p.Cys227Ser Missense 6/27 - 1
17-37866383-C-T c.688C>T p.Pro230Ser Missense 6/27 - 1
17-37866384-C-T c.689C>T p.Pro230Leu Missense 6/27 - 1
17-37866389-C-T c.694C>T p.Pro232Ser Missense 6/27 - 1
17-37866393-C-T c.698C>T p.Thr233Ile Missense 6/27 - 1
17-37866411-A-T c.716A>T p.Gln239Leu Missense 6/27 - 1
17-37866428-A-C c.733A>C p.Thr245Pro Missense 6/27 - 1
17-37866428-A-G c.733A>G p.Thr245Ala Missense 6/27 - 1
17-37866432-GG-G c.737del p.Gly246Alafs*51 Frameshift 6/27 - 1
17-37866443-TC-GA c.748_749inv p.Ser250Asp Missense 6/27 - 1
17-37866444-C-T c.749C>T p.Ser250Phe Missense 6/27 - 1
17-37866444-C-A c.749C>A p.Ser250Tyr Missense 6/27 - 1
17-37866446-G-A c.751G>A p.Asp251Asn Missense 6/27 - 1
17-37866450-G-T c.755G>T p.Cys252Phe Missense 6/27 - 1
17-37866452-C-G c.757C>G p.Leu253Val Missense 6/27 - 1
17-37866599-CTC-TAA c.766_768delinsTAA p.Leu256* Nonsense 7/27 - 1
17-37866613-C-A c.780C>A p.His260Gln Missense 7/27 - 2
17-37866613-C-G c.780C>G p.His260Gln Missense 7/27 - 2
17-37866614-AG-GA c.781_782delinsGA p.Ser261Asp Missense 7/27 - 1
17-37866614-AG-GC c.781_782delinsGC p.Ser261Ala Missense 7/27 - 1
17-37866620-A-C c.787A>C p.Ile263Leu Missense 7/27 - 1
17-37866620-AT-GC c.787_788delinsGC p.Ile263Ala Missense 7/27 - 1
17-37866621-T-A c.788T>A p.Ile263Asn Missense 7/27 - 1
17-37866621-T-C c.788T>C p.Ile263Thr Missense 7/27 - 2
17-37866626-G-A c.793G>A p.Glu265Lys Missense 7/27 - 3
17-37866629-C-A c.796C>A p.Leu266Met Missense 7/27 - 1
17-37866641-GCC-TGG c.808_810delinsTGG p.Ala270Trp Missense 7/27 - 1
17-37866647-G-C c.814G>C p.Val272Leu Missense 7/27 - 1
17-37866662-G-C c.829G>C p.Asp277His Missense 7/27 - 4
17-37866662-G-T c.829G>T p.Asp277Tyr Missense 7/27 - 1
17-37866663-A-G c.830A>G p.Asp277Gly Missense 7/27 - 1
17-37866667-G-T c.834G>T p.Thr278Thr Synonymous 7/27 - 1
17-37866667-G-A c.834G>A p.Thr278Thr Synonymous 7/27 - 1
17-37866667-G-C c.834G>C p.Thr278Thr Synonymous 7/27 - 1
17-37866668-T-A c.835T>A p.Phe279Ile Missense 7/27 - 1
17-37866675-C-T c.842C>T p.Ser281Phe Missense 7/27 - 1
17-37866680-C-T c.847C>T p.Pro283Ser Missense 7/27 - 1
17-37866698-TA-CT c.865_866delinsCT p.Tyr289Leu Missense 7/27 - 12
17-37866701-A-G c.868A>G p.Thr290Ala Missense 7/27 - 1
17-37866707-G-T c.874G>T p.Gly292Cys Missense 7/27 - 1
17-37866707-G-C c.874G>C p.Gly292Arg Missense 7/27 - 4
17-37866710-G-C c.877G>C p.Ala293Pro Missense 7/27 - 1
17-37866710-G-A c.877G>A p.Ala293Thr Missense 7/27 - 4
17-37866711-C-T c.878C>T p.Ala293Val Missense 7/27 - 1
17-37866713-AG-GA c.880_881delinsGA p.Ser294Asp Missense 7/27 - 1
17-37866713-AG-GC c.880_881delinsGC p.Ser294Ala Missense 7/27 - 2
17-37866717-G-A c.884G>A p.Cys295Tyr Missense 7/27 - 1
17-37866723-C-T c.890C>T p.Thr297Ile Missense 7/27 - 1
17-37866722-A-T c.889A>T p.Thr297Ser Missense 7/27 - 1
17-37866723-C-G c.890C>G p.Thr297Ser Missense 7/27 - 1
17-37866733-C-T c.900C>T p.Pro300Pro Synonymous 7/27 - 1
17-37866733-C-G c.900C>G p.Pro300Pro Synonymous 7/27 - 1
17-37866733-C-A c.900C>A p.Pro300Pro Synonymous 7/27 - 1
17-37868185-C-A c.906C>A p.Asn302Lys Missense 8/27 - 1
17-37868185-C-G c.906C>G p.Asn302Lys Missense 8/27 - 1
17-37868192-TCT-GAG c.913_915delinsGAG p.Ser305Glu Missense 8/27 - 1
17-37868192-TC-GA c.913_914inv p.Ser305Asp Missense 8/27 - 1
17-37868192-T-G c.913T>G p.Ser305Ala Missense 8/27 - 2
17-37868193-C-G c.914C>G p.Ser305Cys Missense 8/27 - 3
17-37868196-C-T c.917C>T p.Thr306Met Missense 8/27 - 1
17-37868201-G-C c.922G>C p.Val308Leu Missense 8/27 - 1
17-37868201-G-A c.922G>A p.Val308Met Missense 8/27 - 3
17-37868201-G-T c.922G>T p.Val308Leu Missense 8/27 - 1
17-37868201-GT-CC c.922_923delinsCC p.Val308Pro Missense 8/27 - 1
17-37868201-GTG-AAC c.922_924delinsAAC p.Val308Asn Missense 8/27 - 1
17-37868205-G-C c.926G>C p.Gly309Ala Missense 8/27 - 20
17-37868205-G-A c.926G>A p.Gly309Glu Missense 8/27 - 8
17-37868207-TC-AA c.928_929delinsAA p.Ser310Asn Missense 8/27 - 1
17-37868207-T-A c.928T>A p.Ser310Thr Missense 8/27 - 1
17-37868208-C-A c.929C>A p.Ser310Tyr Missense 8/27 - 44
17-37868208-C-T c.929C>T p.Ser310Phe Missense 8/27 - 129
17-37868210-T-C c.931T>C p.Cys311Arg Missense 8/27 - 3
17-37868210-T-G c.931T>G p.Cys311Gly Missense 8/27 - 1
17-37868213-AC-TG c.934_935delinsTG p.Thr312Cys Missense 8/27 - 1
17-37868216-C-A c.937C>A p.Leu313Ile Missense 8/27 - 4
17-37868216-C-G c.937C>G p.Leu313Val Missense 8/27 - 3
17-37868222-TG-GC c.943_944delinsGC p.Cys315Ala Missense 8/27 - 1
17-37868234-A-G c.955A>G p.Asn319Asp Missense 8/27 - 2
17-37868234-A-T c.955A>T p.Asn319Tyr Missense 8/27 - 1
17-37868235-A-G c.956A>G p.Asn319Ser Missense 8/27 - 1
17-37868241-A-G c.962A>G p.Glu321Gly Missense 8/27 - 3
17-37868242-G-T c.963G>T p.Glu321Asp Missense 8/27 - 1
17-37868242-G-C c.963G>C p.Glu321Asp Missense 8/27 - 1
17-37868256-A-G c.977A>G p.Asp326Gly Missense 8/27 - 1
17-37868261-A-T c.982A>T p.Thr328Ser Missense 8/27 - 1
17-37868265-A-T c.986A>T p.Gln329Leu Missense 8/27 - 1
17-37868278-G-T c.999G>T p.Lys333Asn Missense 8/27 - 1
17-37868278-G-C c.999G>C p.Lys333Asn Missense 8/27 - 1
17-37868279-T-A c.1000T>A p.Cys334Ser Missense 8/27 - 5
17-37868280-G-C c.1001G>C p.Cys334Ser Missense 8/27 - 5
17-37868282-A-T c.1003A>T p.Ser335Cys Missense 8/27 - 4
17-37868283-G-T c.1004G>T p.Ser335Ile Missense 8/27 - 1
17-37868294-G-A c.1015G>A p.Ala339Thr Missense 8/27 - 1
17-37868294-GC-CG c.1015_1016delinsCG p.Ala339Arg Missense 8/27 - 1
17-37868297-CG-AA c.1018_1019delinsAA p.Arg340Lys Missense 8/27 - 1
17-37868298-G-C c.1019G>C p.Arg340Pro Missense 8/27 - 1
17-37868583-G-T c.1030G>T p.Gly344Cys Missense 9/27 - 1
17-37868604-C-T c.1051C>T p.Arg351* Nonsense 9/27 - 1
17-37868607-G-A c.1054G>A p.Glu352Lys Missense 9/27 - 1
17-37868608-A-C c.1055A>C p.Glu352Ala Missense 9/27 - 1
17-37868620-T-C c.1067T>C p.Val356Ala Missense 9/27 - 2
17-37868649-GG-AC c.1096_1097delinsAC p.Gly366Thr Missense 9/27 - 1
17-37868658-A-G c.1105A>G p.Lys369Glu Missense 9/27 - 1
17-37868670-AG-TA c.1117_1118delinsTA p.Ser373Tyr Missense 9/27 - 3
17-37868676-GC-AG c.1123_1124delinsAG p.Ala375Arg Missense 9/27 - 2
17-37868676-GCA-ATG c.1123_1125delinsATG p.Ala375Met Missense 9/27 - 5
17-37868676-G-C c.1123G>C p.Ala375Pro Missense 9/27 - 7
17-37868698-A-T c.1145A>T p.Asp382Val Missense 9/27 - 1
17-37868715-C-T c.1148+14C>T - IntronicSNV - 9/26 1
17-37870378-G-C c.1149-1161G>C - IntronicSNV - 9/26 1
17-37870378-G-A c.1149-1161G>A - IntronicSNV - 9/26 1
17-37871546-G-A c.1156G>A p.Ala386Thr Missense 10/27 - 1
17-37871546-AG-A c.1156del p.Ala386Profs*45 Frameshift 10/27 - 1
17-37871547-C-A c.1157C>A p.Ala386Asp Missense 10/27 - 2
17-37871547-C-G c.1157C>G p.Ala386Gly Missense 10/27 - 1
17-37871567-C-T c.1177C>T p.Gln393* Nonsense 10/27 - 1
17-37871576-C-A c.1186C>A p.Gln396Lys Missense 10/27 - 1
17-37871576-C-T c.1186C>T p.Gln396* Nonsense 10/27 - 1
17-37871591-GA-AG c.1201_1202delinsAG p.Glu401Arg Missense 10/27 - 1
17-37871591-TG-T c.1201del p.Glu401Argfs*30 Frameshift 10/27 - 1
17-37871605-G-T c.1215G>T p.Glu405Asp Missense 10/27 - 2
17-37871605-G-C c.1215G>C p.Glu405Asp Missense 10/27 - 2
17-37871609-ACA-GAC c.1219_1221delinsGAC p.Thr407Asp Missense 10/27 - 1
17-37871714-C-T c.1238C>T p.Ser413Leu Missense 11/27 - 1
17-37871714-CA-GT c.1238_1239delinsGT p.Ser413Cys Missense 11/27 - 1
17-37871724-G-C c.1248G>C p.Pro416Pro Synonymous 11/27 - 1
17-37871724-G-A c.1248G>A p.Pro416Pro Synonymous 11/27 - 1
17-37871724-G-T c.1248G>T p.Pro416Pro Synonymous 11/27 - 1
17-37871728-AG-CC c.1252_1253delinsCC p.Ser418Pro Missense 11/27 - 1
17-37871729-G-C c.1253G>C p.Ser418Thr Missense 11/27 - 3
17-37871746-G-A c.1270G>A p.Val424Ile Missense 11/27 - 1
17-37871751-C-A c.1275C>A p.Phe425Leu Missense 11/27 - 1
17-37871749-T-C c.1273T>C p.Phe425Leu Missense 11/27 - 1
17-37871751-C-G c.1275C>G p.Phe425Leu Missense 11/27 - 1
17-37871770-C-G c.1294C>G p.Arg432Gly Missense 11/27 - 1
17-37871777-G-A c.1301G>A p.Arg434Gln Missense 11/27 - 1
17-37871782-C-G c.1306C>G p.Leu436Val Missense 11/27 - 1
17-37872000-T-C c.1321T>C p.Tyr441His Missense 12/27 - 1
17-37872004-CG-GT c.1325_1326delinsGT p.Ser442Cys Missense 12/27 - 3
17-37872009-A-T c.1330A>T p.Thr444Ser Missense 12/27 - 1
17-37872010-C-G c.1331C>G p.Thr444Ser Missense 12/27 - 1
17-37872016-A-C c.1337A>C p.Gln446Pro Missense 12/27 - 1
17-37872021-C-A c.1342C>A p.Leu448Met Missense 12/27 - 1
17-37872034-G-C c.1355G>C p.Trp452Ser Missense 12/27 - 1
17-37872035-G-T c.1356G>T p.Trp452Cys Missense 12/27 - 2
17-37872045-C-T c.1366C>T p.Arg456Cys Missense 12/27 - 2
17-37872046-G-T c.1367G>T p.Arg456Leu Missense 12/27 - 1
17-37872050-A-G c.1371A>G p.Ser457Ser Synonymous 12/27 - 1
17-37872060-CT-GC c.1381_1382delinsGC p.Leu461Ala Missense 12/27 - 1
17-37872067-G-A c.1388G>A p.Ser463Asn Missense 12/27 - 1
17-37872070-G-T c.1391G>T p.Gly464Val Missense 12/27 - 4
17-37872072-CT-AA c.1393_1394delinsAA p.Leu465Lys Missense 12/27 - 1
17-37872073-T-G c.1394T>G p.Leu465Arg Missense 12/27 - 1
17-37872075-G-A c.1396G>A p.Ala466Thr Missense 12/27 - 2
17-37872076-C-T c.1397C>T p.Ala466Val Missense 12/27 - 2
17-37872079-T-G c.1400T>G p.Leu467Arg Missense 12/27 - 1
17-37872085-A-G c.1406A>G p.His469Arg Missense 12/27 - 1
17-37872096-C-T c.1417C>T p.His473Tyr Missense 12/27 - 1
17-37872115-C-T c.1436C>T p.Thr479Met Missense 12/27 - 1
17-37872125-G-T c.1446G>T p.Trp482Cys Missense 12/27 - 1
17-37872125-G-C c.1446G>C p.Trp482Cys Missense 12/27 - 1
17-37872136-T-C c.1457T>C p.Phe486Ser Missense 12/27 - 1
17-37872138-C-T c.1459C>T p.Arg487Trp Missense 12/27 - 1
17-37872138-C-G c.1459C>G p.Arg487Gly Missense 12/27 - 1
17-37872139-G-C c.1460G>C p.Arg487Pro Missense 12/27 - 1
17-37872145-C-T c.1466C>T p.Pro489Leu Missense 12/27 - 1
17-37872147-CA-GC c.1468_1469delinsGC p.His490Ala Missense 12/27 - 1
17-37872153-GC-CG c.1474_1475delinsCG p.Ala492Arg Missense 12/27 - 1
17-37872159-C-T c.1480C>T p.Leu494Phe Missense 12/27 - 1
17-37872159-CTC-GAG c.1480_1482inv p.Leu494Glu Missense 12/27 - 1
17-37872159-C-A c.1480C>A p.Leu494Ile Missense 12/27 - 1
17-37872160-T-G c.1481T>G p.Leu494Arg Missense 12/27 - 1
17-37872166-C-T c.1487C>T p.Thr496Ile Missense 12/27 - 1
17-37872171-A-G c.1492A>G p.Asn498Asp Missense 12/27 - 1
17-37872174-C-T c.1495C>T p.Arg499Trp Missense 12/27 - 2
17-37872175-G-A c.1496G>A p.Arg499Gln Missense 12/27 - 1
17-37872559-G-A c.1519G>A p.Glu507Lys Missense 13/27 - 1
17-37872560-A-C c.1520A>C p.Glu507Ala Missense 13/27 - 1
17-37872583-T-C c.1543T>C p.Cys515Arg Missense 13/27 - 2
17-37872593-G-T c.1553G>T p.Gly518Val Missense 13/27 - 1
17-37872598-T-A c.1558T>A p.Cys520Ser Missense 13/27 - 1
17-37872607-C-T c.1567C>T p.Pro523Ser Missense 13/27 - 1
17-37872608-C-T c.1568C>T p.Pro523Leu Missense 13/27 - 1
17-37872613-C-T c.1573C>T p.Pro525Ser Missense 13/27 - 1
17-37872616-A-G c.1576A>G p.Thr526Ala Missense 13/27 - 2
17-37872619-C-T c.1579C>T p.Gln527* Nonsense 13/27 - 1
17-37872624-T-C c.1584T>C p.Cys528Cys Synonymous 13/27 - 1
17-37872626-T-C c.1586T>C p.Val529Ala Missense 13/27 - 1
17-37872628-AAC-CAA c.1588_1590delinsCAA p.Asn530Gln Missense 13/27 - 1
17-37872637-C-T c.1597C>T p.Gln533* Nonsense 13/27 - 1
17-37872661-G-A c.1621G>A p.Val541Met Missense 13/27 - 1
17-37872664-G-A c.1624G>A p.Glu542Lys Missense 13/27 - 21
17-37872665-A-G c.1625A>G p.Glu542Gly Missense 13/27 - 1
17-37872681-G-T c.1641G>T p.Leu547Leu Synonymous 13/27 - 1
17-37872685-G-A c.1645G>A p.Gly549Arg Missense 13/27 - 1
17-37872685-G-C c.1645G>C p.Gly549Arg Missense 13/27 - 1
17-37872766-A-G c.1647-2A>G - IntronicSNV - 13/26 1
17-37872780-G-C c.1659G>C p.Glu553Asp Missense 14/27 - 2
17-37872780-G-T c.1659G>T p.Glu553Asp Missense 14/27 - 2
17-37872794-G-T c.1673G>T p.Arg558Met Missense 14/27 - 1
17-37872805-C-T c.1684C>T p.Pro562Ser Missense 14/27 - 1
17-37872808-TG-AC c.1687_1688delinsAC p.Cys563Thr Missense 14/27 - 1
17-37872817-G-C c.1696G>C p.Glu566Gln Missense 14/27 - 1
17-37872829-CCAGAATGGCTCAGTGACC-C c.1708_1725del p.Gln570_Thr575del InFrameDeletion 14/27 - 1
17-37872836-G-T c.1715G>T p.Gly572Val Missense 14/27 - 1
17-37872847-T-A c.1726T>A p.Cys576Ser Missense 14/27 - 1
17-37872848-G-C c.1727G>C p.Cys576Ser Missense 14/27 - 1
17-37873573-G-A c.1738G>A p.Glu580Lys Missense 15/27 - 1
17-37873592-C-G c.1757C>G p.Ala586Gly Missense 15/27 - 1
17-37873624-GT-TC c.1789_1790delinsTC p.Val597Ser Missense 15/27 - 1
17-37873630-C-T c.1795C>T p.Arg599Cys Missense 15/27 - 1
17-37873638-C-T c.1803C>T p.Pro601Pro Synonymous 15/27 - 1
17-37873650-A-AA c.1815dup p.Pro606Thrfs*2 Frameshift 15/27 - 1
17-37873657-C-T c.1822C>T p.Leu608Phe Missense 15/27 - 1
17-37873661-C-T c.1826C>T p.Ser609Phe Missense 15/27 - 1
17-37873666-AT-GC c.1831_1832delinsGC p.Met611Ala Missense 15/27 - 1
17-37873669-CC-GA c.1834_1835delinsGA p.Pro612Asp Missense 15/27 - 1
17-37873669-C-G c.1834C>G p.Pro612Ala Missense 15/27 - 1
17-37873670-C-T c.1835C>T p.Pro612Leu Missense 15/27 - 1
17-37873690-G-A c.1855G>A p.Glu619Lys Missense 15/27 - 1
17-37873693-GAG-ATC c.1858_1860delinsATC p.Glu620Ile Missense 15/27 - 1
17-37873694-A-T c.1859A>T p.Glu620Val Missense 15/27 - 1
17-37873699-G-T c.1864G>T p.Ala622Ser Missense 15/27 - 1
17-37873715-C-A c.1880C>A p.Pro627His Missense 15/27 - 1
17-37873726-A-G c.1891A>G p.Thr631Ala Missense 15/27 - 1
17-37873731-C-T c.1896C>T p.His632His Synonymous 15/27 - 1
17-37876041-T-C c.1900T>C p.Cys634Arg Missense 16/27 - 2
17-37876043-T-G c.1902T>G p.Cys634Trp Missense 16/27 - 1
17-37876046-G-A c.1905G>A p.Val635Val Synonymous 16/27 - 1
17-37876047-GGAC-G c.1906_1908del p.Asp636del InFrameDeletion 16/27 - 1
17-37876057-A-T c.1916A>T p.Asp639Val Missense 16/27 - 1
17-37876062-G-A c.1921G>A p.Gly641Ser Missense 16/27 - 1
17-37876071-GC-TT c.1930_1931delinsTT p.Ala644Phe Missense 16/27 - 1
17-37876074-GAG-TTT c.1933_1935delinsTTT p.Glu645Phe Missense 16/27 - 1
17-37876074-G-A c.1933G>A p.Glu645Lys Missense 16/27 - 1
17-37876077-CAG-TGT c.1936_1938delinsTGT p.Gln646Cys Missense 16/27 - 1
17-37876080-AGA-TGT c.1939_1941delinsTGT p.Arg647Cys Missense 16/27 - 1
17-37876081-G-C c.1940G>C p.Arg647Thr Missense 16/27 - 1
17-37876081-G-A c.1940G>A p.Arg647Lys Missense 16/27 - 1
17-37876083-GC-CT c.1942_1943delinsCT p.Ala648Leu Missense 16/27 - 1
17-37876087-G-C c.1946G>C p.Ser649Thr Missense 16/27 - 1
17-37876179-C-G c.1946+92C>G - IntronicSNV - 16/26 1
17-37876835-A-G c.1946+748A>G - IntronicSNV - 16/26 12
17-37877412-G-A c.1946+1325G>A - IntronicSNV - 16/26 1
17-37877412-G-C c.1946+1325G>C - IntronicSNV - 16/26 1
17-37877447-C-G c.1946+1360C>G - IntronicSNV - 16/26 1
17-37878113-C-T c.1947-1459C>T - IntronicSNV - 16/26 1
17-37879030-A-G c.1947-542A>G - IntronicSNV - 16/26 2
17-37879573-C-T c.1948C>T p.Pro650Ser Missense 17/27 - 1
17-37879574-C-T c.1949C>T p.Pro650Leu Missense 17/27 - 1
17-37879576-C-G c.1951C>G p.Leu651Val Missense 17/27 - 2
17-37879576-CT-TG c.1951_1952delinsTG p.Leu651Trp Missense 17/27 - 1
17-37879580-C-T c.1955C>T p.Thr652Met Missense 17/27 - 1
17-37879583-C-G c.1958C>G p.Ser653Cys Missense 17/27 - 5
17-37879585-A-C c.1960A>C p.Ile654Leu Missense 17/27 - 3
17-37879585-A-G c.1960A>G p.Ile654Val Missense 17/27 - 10
17-37879588-A-T c.1963A>T p.Ile655Phe Missense 17/27 - 19
17-37879588-A-G c.1963A>G p.Ile655Val Missense 17/27 - 70
17-37879588-AT-GC c.1963_1964delinsGC p.Ile655Ala Missense 17/27 - 2
17-37879590-C-G c.1965C>G p.Ile655Met Missense 17/27 - 1
17-37879591-T-G c.1966T>G p.Ser656Ala Missense 17/27 - 1
17-37879592-C-G c.1967C>G p.Ser656Cys Missense 17/27 - 1
17-37879592-C-T c.1967C>T p.Ser656Phe Missense 17/27 - 1
17-37879601-T-G c.1976T>G p.Val659Gly Missense 17/27 - 1
17-37879601-TT-AA c.1976_1977inv p.Val659Glu Missense 17/27 - 1
17-37879603-GGC-GACAGG c.1979_1980delinsACAGG p.Gly660delinsAspArg MultiAAMissense 17/27 - 1
17-37879603-G-T c.1978G>T p.Gly660Cys Missense 17/27 - 1
17-37879603-G-C c.1978G>C p.Gly660Arg Missense 17/27 - 5
17-37879604-G-A c.1979G>A p.Gly660Asp Missense 17/27 - 20
17-37879606-A-G c.1981A>G p.Ile661Val Missense 17/27 - 1
17-37879609-C-A c.1984C>A p.Leu662Met Missense 17/27 - 1
17-37879609-C-G c.1984C>G p.Leu662Val Missense 17/27 - 1
17-37879613-TG-AT c.1988_1989delinsAT p.Leu663His Missense 17/27 - 1
17-37879613-T-C c.1988T>C p.Leu663Pro Missense 17/27 - 2
17-37879615-G-T c.1990G>T p.Val664Phe Missense 17/27 - 1
17-37879615-GTC-CAA c.1990_1992delinsCAA p.Val664Gln Missense 17/27 - 1
17-37879616-TC-AG c.1991_1992delinsAG p.Val664Glu Missense 17/27 - 17
17-37879618-G-A c.1993G>A p.Val665Met Missense 17/27 - 2
17-37879619-TG-AC c.1994_1995delinsAC p.Val665Asp Missense 17/27 - 1
17-37879628-G-A c.2003G>A p.Gly668Glu Missense 17/27 - 1
17-37879631-T-C c.2006T>C p.Val669Ala Missense 17/27 - 1
17-37879634-T-G c.2009T>G p.Val670Gly Missense 17/27 - 1
17-37879636-TT-AA c.2011_2012inv p.Phe671Asn Missense 17/27 - 1
17-37879639-G-A c.2014G>A p.Gly672Arg Missense 17/27 - 1
17-37879639-G-C c.2014G>C p.Gly672Arg Missense 17/27 - 1
17-37879642-A-T c.2017A>T p.Ile673Phe Missense 17/27 - 1
17-37879645-C-A c.2020C>A p.Leu674Ile Missense 17/27 - 1
17-37879645-C-G c.2020C>G p.Leu674Val Missense 17/27 - 1
17-37879646-T-A c.2021T>A p.Leu674His Missense 17/27 - 1
17-37879648-A-C c.2023A>C p.Ile675Leu Missense 17/27 - 1
17-37879650-C-G c.2025C>G p.Ile675Met Missense 17/27 - 1
17-37879652-A-G c.2027A>G p.Lys676Arg Missense 17/27 - 1
17-37879652-A-C c.2027A>C p.Lys676Thr Missense 17/27 - 1
17-37879654-CG-AC c.2029_2030delinsAC p.Arg677Thr Missense 17/27 - 1
17-37879654-C-T c.2029C>T p.Arg677* Nonsense 17/27 - 1
17-37879655-G-T c.2030G>T p.Arg677Leu Missense 17/27 - 1
17-37879657-C-T c.2032C>T p.Arg678Trp Missense 17/27 - 2
17-37879658-G-A c.2033G>A p.Arg678Gln Missense 17/27 - 37
17-37879660-C-G c.2035C>G p.Gln679Glu Missense 17/27 - 1
17-37879663-CAG-TTT c.2038_2040delinsTTT p.Gln680Phe Missense 17/27 - 1
17-37879664-A-G c.2039A>G p.Gln680Arg Missense 17/27 - 1
17-37879665-G-T c.2040G>T p.Gln680His Missense 17/27 - 1
17-37879665-G-C c.2040G>C p.Gln680His Missense 17/27 - 1
17-37879668-G-T c.2043G>T p.Lys681Asn Missense 17/27 - 1
17-37879668-G-C c.2043G>C p.Lys681Asn Missense 17/27 - 1
17-37879669-ATC-CAA c.2044_2046delinsCAA p.Ile682Gln Missense 17/27 - 8
17-37879669-AT-GG c.2044_2045delinsGG p.Ile682Gly Missense 17/27 - 1
17-37879670-T-C c.2045T>C p.Ile682Thr Missense 17/27 - 1
17-37879671-C-G c.2046C>G p.Ile682Met Missense 17/27 - 1
17-37879673-G-A c.2048G>A p.Arg683Gln Missense 17/27 - 1
17-37879678-T-C c.2053T>C p.Tyr685His Missense 17/27 - 1
17-37879684-AT-GG c.2059_2060delinsGG p.Met687Gly Missense 17/27 - 1
17-37879688-G-T c.2063G>T p.Arg688Leu Missense 17/27 - 1
17-37879691-G-T c.2066G>T p.Arg689Ile Missense 17/27 - 1
17-37879699-C-T c.2074C>T p.Gln692* Nonsense 17/27 - 1
17-37879702-G-A c.2077G>A p.Glu693Lys Missense 17/27 - 2
17-37879703-A-G c.2078A>G p.Glu693Gly Missense 17/27 - 1
17-37879706-C-T c.2081C>T p.Thr694Met Missense 17/27 - 1
17-37879708-G-A c.2083G>A p.Glu695Lys Missense 17/27 - 1
17-37879762-G-A c.2086-29G>A - IntronicSNV - 17/26 3
17-37879762-G-T c.2086-29G>T - IntronicSNV - 17/26 3
17-37879794-G-C c.2089G>C p.Val697Leu Missense 18/27 - 6
17-37879794-G-T c.2089G>T p.Val697Leu Missense 18/27 - 6
17-37879800-C-T c.2095C>T p.Pro699Ser Missense 18/27 - 1
17-37879806-A-G c.2101A>G p.Thr701Ala Missense 18/27 - 1
17-37879810-C-T c.2105C>T p.Pro702Leu Missense 18/27 - 2
17-37879816-G-A c.2111G>A p.Gly704Glu Missense 18/27 - 1
17-37879819-C-T c.2114C>T p.Ala705Val Missense 18/27 - 1
17-37879821-AT-GC c.2116_2117delinsGC p.Met706Ala Missense 18/27 - 1
17-37879831-A-T c.2126A>T p.Gln709Leu Missense 18/27 - 3
17-37879834-C-T c.2129C>T p.Ala710Val Missense 18/27 - 1
17-37879837-A-T c.2132A>T p.Gln711Leu Missense 18/27 - 1
17-37879838-G-T c.2133G>T p.Gln711His Missense 18/27 - 2
17-37879838-G-C c.2133G>C p.Gln711His Missense 18/27 - 2
17-37879839-A-T c.2134A>T p.Met712Leu Missense 18/27 - 1
17-37879839-A-C c.2134A>C p.Met712Leu Missense 18/27 - 1
17-37879843-G-T c.2138G>T p.Arg713Leu Missense 18/27 - 1
17-37879845-ATC-CAA c.2140_2142delinsCAA p.Ile714Gln Missense 18/27 - 3
17-37879854-G-A c.2149G>A p.Glu717Lys Missense 18/27 - 1
17-37879856-G-T c.2151G>T p.Glu717Asp Missense 18/27 - 1
17-37879856-G-C c.2151G>C p.Glu717Asp Missense 18/27 - 1
17-37879866-AGG-TTT c.2161_2163delinsTTT p.Arg721Phe Missense 18/27 - 1
17-37879879-T-C c.2174T>C p.Val725Ala Missense 18/27 - 1
17-37879881-C-A c.2176C>A p.Leu726Ile Missense 18/27 - 1
17-37879881-C-T c.2176C>T p.Leu726Phe Missense 18/27 - 4
17-37879885-G-C c.2180G>C p.Gly727Ala Missense 18/27 - 3
17-37879887-T-G c.2182T>G p.Ser728Ala Missense 18/27 - 1
17-37879888-C-T c.2183C>T p.Ser728Phe Missense 18/27 - 1
17-37879903-C-T c.2198C>T p.Thr733Ile Missense 18/27 - 4
17-37879911-AA-GC c.2206_2207delinsGC p.Lys736Ala Missense 18/27 - 4
17-37880195-AA-CC c.2239_2240delinsCC p.Lys747Pro Missense 19/27 - 1
17-37880199-TT-GG c.2243_2244delinsGG p.Ile748Arg Missense 19/27 - 1
17-37880202-C-T c.2246C>T p.Pro749Leu Missense 19/27 - 1
17-37880207-GC-TG c.2251_2252delinsTG p.Ala751Cys Missense 19/27 - 1
17-37880213-A-G c.2257A>G p.Lys753Glu Missense 19/27 - 6
17-37880213-AA-GC c.2257_2258delinsGC p.Lys753Ala Missense 19/27 - 3
17-37880214-A-T c.2258A>T p.Lys753Ile Missense 19/27 - 1
17-37880214-AA-TG c.2258_2259delinsTG p.Lys753Met Missense 19/27 - 8
17-37880216-G-A c.2260G>A p.Val754Met Missense 19/27 - 1
17-37880219-TT-GC c.2263_2264delinsGC p.Leu755Ala Missense 19/27 - 5
17-37880219-T-A c.2263T>A p.Leu755Met Missense 19/27 - 3
17-37880219-TT-CC c.2263_2264delinsCC p.Leu755Pro Missense 19/27 - 28
17-37880220-TTGAGGGAAAACACAT-T c.2264_2278del p.Leu755_Thr759del InFrameDeletion 19/27 - 2
17-37880220-T-C c.2264T>C p.Leu755Ser Missense 19/27 - 110
17-37880220-T-G c.2264T>G p.Leu755Trp Missense 19/27 - 4
17-37880221-G-T c.2265G>T p.Leu755Phe Missense 19/27 - 4
17-37880221-G-C c.2265G>C p.Leu755Phe Missense 19/27 - 4
17-37880231-CACA-C c.2275_2277del p.Thr759del InFrameDeletion 19/27 - 1
17-37880234-T-G c.2278T>G p.Ser760Ala Missense 19/27 - 3
17-37880243-G-A c.2287G>A p.Ala763Thr Missense 19/27 - 2
17-37880247-AC-GG c.2291_2292delinsGG p.Asn764Arg Missense 19/27 - 1
17-37880255-A-T c.2299A>T p.Ile767Phe Missense 19/27 - 1
17-37880257-C-G c.2301C>G p.Ile767Met Missense 19/27 - 18
17-37880259-T-C c.2303T>C p.Leu768Ser Missense 19/27 - 3
17-37880261-G-A c.2305G>A p.Asp769Asn Missense 19/27 - 6
17-37880261-G-T c.2305G>T p.Asp769Tyr Missense 19/27 - 35
17-37880261-G-C c.2305G>C p.Asp769His Missense 19/27 - 42
17-37880262-A-C c.2306A>C p.Asp769Ala Missense 19/27 - 1
17-37880263-C-G c.2307C>G p.Asp769Glu Missense 19/27 - 1
17-37880263-C-A c.2307C>A p.Asp769Glu Missense 19/27 - 1
17-37880263-C-T c.2307C>T p.Asp769Asp Synonymous 19/27 - 1
17-37880264-G-A c.2307+1G>A - IntronicSNV - 19/26 1
17-37880979-G-A c.2308G>A p.Glu770Lys Missense 20/27 - 1
17-37880981-A-G c.2310A>G p.Glu770Glu Synonymous 20/27 - 1
17-37880983-C-T c.2312C>T p.Ala771Val Missense 20/27 - 1
17-37880985-TA-GC c.2314_2315delinsGC p.Tyr772Ala Missense 20/27 - 1
17-37880986-A-ATGTAATGGCATA c.2315_2316insTGTAATGGCATA p.Tyr772_Ala775dup InFrameInsertion 20/27 - 4
17-37880988-G-A c.2317G>A p.Val773Met Missense 20/27 - 4
17-37880988-G-C c.2317G>C p.Val773Leu Missense 20/27 - 3
17-37880988-G-T c.2317G>T p.Val773Leu Missense 20/27 - 3
17-37880989-T-C c.2318T>C p.Val773Ala Missense 20/27 - 2
17-37880991-A-T c.2320A>T p.Met774Leu Missense 20/27 - 1
17-37880991-GA-G c.2320del p.Met774Trpfs*17 Frameshift 20/27 - 1
17-37880991-ATG-TGGCTTGTA c.2320_2322delinsTGGCTTGTA p.Met774delinsTrpLeuVal MultiAAMissense 20/27 - 4
17-37880993-G-C c.2322G>C p.Met774Ile Missense 20/27 - 1
17-37880993-G-T c.2322G>T p.Met774Ile Missense 20/27 - 1
17-37880993-G-A c.2322G>A p.Met774Ile Missense 20/27 - 1
17-37880995-C-T c.2324C>T p.Ala775Val Missense 20/27 - 1
17-37880995-C-CATATGTAATGGC c.2324_2325insATATGTAATGGC p.Tyr772_Ala775dup InFrameInsertion 20/27 - 1
17-37880996-CTGGTGT-C c.2325_2330del p.Val777_Gly778del InFrameDeletion 20/27 - 1
17-37880996-T-TTATGTAATGGCA c.2325_2326insTATGTAATGGCA p.Tyr772_Ala775dup InFrameInsertion 20/27 - 19
17-37880997-G-TTGT c.2326_2327insTGT p.Gly776delinsValCys MultiAAMissense 20/27 - 1
17-37880997-GGT-ATCTGT c.2326delinsATCT p.Gly776delinsIleCys MultiAAMissense 20/27 - 1
17-37880997-GGT-GCAGTAGGTTGT c.2326_2327insCAGTAGGTT p.Gly776delinsAlaValGlyCys MultiAAMissense 20/27 - 1
17-37880997-GGT-GTAGTA c.2327_2328delinsTAGTA p.Gly776delinsValVal MultiAAMissense 20/27 - 1
17-37880997-GGT-CTTTGT c.2326delinsCTTT p.Gly776delinsLeuCys MultiAAMissense 20/27 - 2
17-37880997-G-GCAGTAATGGCAG c.2326_2327insCAGTAATGGCAG p.Ala775_Gly776insAlaValMetAla InFrameInsertion 20/27 - 1
17-37880997-G-GTGT c.2326_2327insTGT p.Gly776delinsValCys MultiAAMissense 20/27 - 5
17-37880997-GGT-TGA c.2326_2328delinsTGA p.Gly776* Nonsense 20/27 - 1
17-37880997-G-C c.2326G>C p.Gly776Arg Missense 20/27 - 3
17-37880997-G-A c.2326G>A p.Gly776Ser Missense 20/27 - 12
17-37880997-G-T c.2326G>T p.Gly776Cys Missense 20/27 - 9
17-37880997-GG-CT c.2326_2327delinsCT p.Gly776Leu Missense 20/27 - 11
17-37880997-GGTGTG-TATGTAATGGCAGGTGGT c.2326_2331delinsTATGTAATGGCAGGTGGT p.Gly776_Val777delinsTyrValMetAlaGlyGly MultiAAMissense 20/27 - 1
17-37880997-G-GTAGCAGGTG c.2326_2327insTAGCAGGTG p.Ala775_Gly776insValAlaGly InFrameInsertion 20/27 - 1
17-37880998-GGTG-G c.2327_2329del p.Gly776del InFrameDeletion 20/27 - 3
17-37880998-G-C c.2327G>C p.Gly776Ala Missense 20/27 - 1
17-37880998-G-T c.2327G>T p.Gly776Val Missense 20/27 - 20
17-37880999-T-TTGT c.2328_2329insTGT p.Gly776_Val777insCys InFrameInsertion 20/27 - 1
17-37881000-G-A c.2329G>A p.Val777Met Missense 20/27 - 5
17-37881000-GTG-TGTGTATGT c.2329_2331delinsTGTGTATGT p.Val777delinsCysValCys MultiAAMissense 20/27 - 1
17-37881000-G-T c.2329G>T p.Val777Leu Missense 20/27 - 105
17-37881000-G-C c.2329G>C p.Val777Leu Missense 20/27 - 102
17-37881001-T-C c.2330T>C p.Val777Ala Missense 20/27 - 6
17-37881003-G-T c.2332G>T p.Gly778Cys Missense 20/27 - 1
17-37881003-G-A c.2332G>A p.Gly778Ser Missense 20/27 - 1
17-37881004-G-GTAGCCCTGG c.2333_2334insTAGCCCTGG p.Gly778_Pro780dup InFrameInsertion 20/27 - 2
17-37881006-T-G c.2335T>G p.Ser779Ala Missense 20/27 - 1
17-37881006-T-TGTCCTGGTT c.2335_2336insGTCCTGGTT p.Gly778_Ser779insCysProGly InFrameInsertion 20/27 - 1
17-37881007-C-T c.2336C>T p.Ser779Phe Missense 20/27 - 1
17-37881008-C-T c.2337C>T p.Ser779Ser Synonymous 20/27 - 1
17-37881010-C-T c.2339C>T p.Pro780Leu Missense 20/27 - 1
17-37881010-C-CGGCTCCCCA c.2339_2340insGGCTCCCCA p.Pro780_Tyr781insAlaProGln InFrameInsertion 20/27 - 1
17-37881011-A-AGGTAGCCCT c.2340_2341insGGTAGCCCT p.Gly778_Pro780dup InFrameInsertion 20/27 - 7
17-37881013-A-G c.2342A>G p.Tyr781Cys Missense 20/27 - 1
17-37881018-T-C c.2347T>C p.Ser783Pro Missense 20/27 - 1
17-37881021-C-T c.2350C>T p.Arg784Cys Missense 20/27 - 5
17-37881022-G-A c.2351G>A p.Arg784His Missense 20/27 - 1
17-37881024-C-T c.2353C>T p.Leu785Phe Missense 20/27 - 2
17-37881025-TT-GG c.2354_2355delinsGG p.Leu785Arg Missense 20/27 - 1
17-37881043-C-T c.2372C>T p.Thr791Ile Missense 20/27 - 2
17-37881045-T-C c.2374T>C p.Ser792Pro Missense 20/27 - 1
17-37881046-C-T c.2375C>T p.Ser792Phe Missense 20/27 - 1
17-37881051-G-A c.2380G>A p.Val794Met Missense 20/27 - 1
17-37881055-A-G c.2384A>G p.Gln795Arg Missense 20/27 - 2
17-37881060-G-A c.2389G>A p.Val797Met Missense 20/27 - 1
17-37881061-T-C c.2390T>C p.Val797Ala Missense 20/27 - 1
17-37881064-CA-TG c.2393_2394inv p.Thr798Met Missense 20/27 - 26
17-37881064-C-T c.2393C>T p.Thr798Ile Missense 20/27 - 23
17-37881069-C-T c.2398C>T p.Leu800Phe Missense 20/27 - 1
17-37881075-C-T c.2404C>T p.Pro802Ser Missense 20/27 - 1
17-37881078-T-C c.2407T>C p.Tyr803His Missense 20/27 - 1
17-37881084-TG-GC c.2413_2414delinsGC p.Cys805Ala Missense 20/27 - 1
17-37881084-T-A c.2413T>A p.Cys805Ser Missense 20/27 - 5
17-37881084-T-G c.2413T>G p.Cys805Gly Missense 20/27 - 1
17-37881085-G-C c.2414G>C p.Cys805Ser Missense 20/27 - 5
17-37881093-G-A c.2422G>A p.Asp808Asn Missense 20/27 - 1
17-37881095-C-G c.2424C>G p.Asp808Glu Missense 20/27 - 1
17-37881095-C-A c.2424C>A p.Asp808Glu Missense 20/27 - 1
17-37881102-C-T c.2431C>T p.Arg811Trp Missense 20/27 - 1
17-37881108-A-G c.2437A>G p.Asn813Asp Missense 20/27 - 5
17-37881111-C-T c.2440C>T p.Arg814Cys Missense 20/27 - 1
17-37881112-G-A c.2441G>A p.Arg814His Missense 20/27 - 1
17-37881114-G-C c.2443G>C p.Gly815Arg Missense 20/27 - 2
17-37881114-G-A c.2443G>A p.Gly815Arg Missense 20/27 - 2
17-37881118-G-A c.2447G>A p.Arg816His Missense 20/27 - 1
17-37881123-GG-AC c.2452_2453delinsAC p.Gly818Thr Missense 20/27 - 1
17-37881127-C-T c.2456C>T p.Ser819Phe Missense 20/27 - 1
17-37881146-G-A c.2475G>A p.Trp825* Nonsense 20/27 - 1
17-37881145-G-A c.2474G>A p.Trp825* Nonsense 20/27 - 1
17-37881160-C-T c.2489C>T p.Ala830Val Missense 20/27 - 1
17-37881161-C-A c.2490C>A p.Ala830Ala Synonymous 20/27 - 1
17-37881161-C-T c.2490C>T p.Ala830Ala Synonymous 20/27 - 1
17-37881161-C-G c.2490C>G p.Ala830Ala Synonymous 20/27 - 1
17-37881306-T-C c.2498T>C p.Met833Thr Missense 21/27 - 1
17-37881307-G-A c.2499G>A p.Met833Ile Missense 21/27 - 1
17-37881307-G-T c.2499G>T p.Met833Ile Missense 21/27 - 1
17-37881307-G-C c.2499G>C p.Met833Ile Missense 21/27 - 1
17-37881309-G-A c.2501G>A p.Ser834Asn Missense 21/27 - 1
17-37881312-A-T c.2504A>T p.Tyr835Phe Missense 21/27 - 4
17-37881314-C-T c.2506C>T p.Leu836Leu Synonymous 21/27 - 1
17-37881326-C-T c.2518C>T p.Arg840Trp Missense 21/27 - 1
17-37881329-C-T c.2521C>T p.Leu841Phe Missense 21/27 - 1
17-37881329-C-G c.2521C>G p.Leu841Val Missense 21/27 - 2
17-37881331-C-T c.2523C>T p.Leu841Leu Synonymous 21/27 - 1
17-37881332-GTA-ATG c.2524_2526delinsATG p.Val842Met Missense 21/27 - 1
17-37881332-G-T c.2524G>T p.Val842Leu Missense 21/27 - 1
17-37881332-G-A c.2524G>A p.Val842Ile Missense 21/27 - 73
17-37881332-G-C c.2524G>C p.Val842Leu Missense 21/27 - 1
17-37881339-G-A c.2531G>A p.Arg844Lys Missense 21/27 - 1
17-37881341-G-A c.2533G>A p.Asp845Asn Missense 21/27 - 1
17-37881342-A-C c.2534A>C p.Asp845Ala Missense 21/27 - 3
17-37881350-G-A c.2542G>A p.Ala848Thr Missense 21/27 - 1
17-37881353-C-T c.2545C>T p.Arg849Trp Missense 21/27 - 1
17-37881354-G-A c.2546G>A p.Arg849Gln Missense 21/27 - 1
17-37881359-G-A c.2551G>A p.Val851Met Missense 21/27 - 1
17-37881369-A-G c.2561A>G p.Lys854Arg Missense 21/27 - 1
17-37881372-G-T c.2564G>T p.Ser855Ile Missense 21/27 - 1
17-37881375-C-T c.2567C>T p.Pro856Leu Missense 21/27 - 1
17-37881378-A-G c.2570A>G p.Asn857Ser Missense 21/27 - 3
17-37881384-T-A c.2576T>A p.Val859Asp Missense 21/27 - 1
17-37881388-A-G c.2580A>G p.Lys860Lys Synonymous 21/27 - 3
17-37881392-A-G c.2584A>G p.Thr862Ala Missense 21/27 - 23
17-37881393-C-T c.2585C>T p.Thr862Ile Missense 21/27 - 1
17-37881393-C-G c.2585C>G p.Thr862Arg Missense 21/27 - 1
17-37881399-T-C c.2591T>C p.Phe864Ser Missense 21/27 - 1
17-37881401-G-A c.2593G>A p.Gly865Arg Missense 21/27 - 1
17-37881401-G-C c.2593G>C p.Gly865Arg Missense 21/27 - 1
17-37881404-CTG-TTT c.2596_2598delinsTTT p.Leu866Phe Missense 21/27 - 1
17-37881404-C-A c.2596C>A p.Leu866Met Missense 21/27 - 10
17-37881410-C-T c.2602C>T p.Arg868Trp Missense 21/27 - 2
17-37881414-T-G c.2606T>G p.Leu869Arg Missense 21/27 - 24
17-37881414-T-A c.2606T>A p.Leu869Gln Missense 21/27 - 2
17-37881425-G-A c.2617G>A p.Asp873Asn Missense 21/27 - 1
17-37881426-A-G c.2618A>G p.Asp873Gly Missense 21/27 - 3
17-37881428-G-A c.2620G>A p.Glu874Lys Missense 21/27 - 1
17-37881432-C-T c.2624C>T p.Thr875Ile Missense 21/27 - 1
17-37881438-A-T c.2630A>T p.Tyr877Phe Missense 21/27 - 1
17-37881440-C-T c.2632C>T p.His878Tyr Missense 21/27 - 12
17-37881446-G-A c.2638G>A p.Asp880Asn Missense 21/27 - 1
17-37881446-G-C c.2638G>C p.Asp880His Missense 21/27 - 1
17-37881583-C-T c.2653C>T p.Pro885Ser Missense 22/27 - 1
17-37881597-G-A c.2667G>A p.Met889Ile Missense 22/27 - 1
17-37881597-G-C c.2667G>C p.Met889Ile Missense 22/27 - 1
17-37881597-G-T c.2667G>T p.Met889Ile Missense 22/27 - 1
17-37881598-G-T c.2668G>T p.Ala890Ser Missense 22/27 - 1
17-37881616-C-T c.2686C>T p.Arg896Cys Missense 22/27 - 17
17-37881616-C-G c.2686C>G p.Arg896Gly Missense 22/27 - 1
17-37881617-GC-AA c.2687_2688delinsAA p.Arg896Gln Missense 22/27 - 1
17-37881617-G-A c.2687G>A p.Arg896His Missense 22/27 - 1
17-37881619-C-G c.2689C>G p.Arg897Gly Missense 22/27 - 3
17-37881619-C-T c.2689C>T p.Arg897Trp Missense 22/27 - 1
17-37881620-G-A c.2690G>A p.Arg897Gln Missense 22/27 - 2
17-37881622-CG-GC c.2692_2693delinsGC p.Arg898Ala Missense 22/27 - 1
17-37881622-C-G c.2692C>G p.Arg898Gly Missense 22/27 - 1
17-37881625-T-A c.2695T>A p.Phe899Ile Missense 22/27 - 1
17-37881628-A-C c.2698A>C p.Thr900Pro Missense 22/27 - 1
17-37881634-C-A c.2704C>A p.Gln902Lys Missense 22/27 - 1
17-37881635-A-G c.2705A>G p.Gln902Arg Missense 22/27 - 1
17-37881637-A-C c.2707A>C p.Ser903Arg Missense 22/27 - 1
17-37881639-T-G c.2709T>G p.Ser903Arg Missense 22/27 - 1
17-37881639-T-A c.2709T>A p.Ser903Arg Missense 22/27 - 1
17-37881647-G-A c.2717G>A p.Trp906* Nonsense 22/27 - 1
17-37881648-G-A c.2718G>A p.Trp906* Nonsense 22/27 - 1
17-37881654-T-TA c.2724_2725insA p.Gly909Argfs*25 SpliceDonorInsertion 22/27 - 1
17-37881654-T-TC c.2724_2725insC p.Gly909Argfs*25 SpliceDonorInsertion 22/27 - 1
17-37881654-T-TT c.2724dup p.Gly909Trpfs*25 SpliceDonorInsertion 22/27 - 1
17-37881974-G-A c.2740G>A p.Glu914Lys Missense 23/27 - 2
17-37882014-C-G c.2780C>G p.Pro927Arg Missense 23/27 - 1
17-37882020-G-A c.2786G>A p.Arg929Gln Missense 23/27 - 1
17-37882024-G-T c.2790G>T p.Glu930Asp Missense 23/27 - 2
17-37882024-G-C c.2790G>C p.Glu930Asp Missense 23/27 - 2
17-37882044-AA-A c.2810del p.Lys937Argfs*17 Frameshift 23/27 - 1
17-37882061-C-T c.2827C>T p.Gln943* Nonsense 23/27 - 1
17-37882080-T-C c.2846T>C p.Ile949Thr Missense 23/27 - 1
17-37882100-GT-CG c.2866_2867delinsCG p.Val956Arg Missense 23/27 - 3
17-37882838-CGG-TGT c.2896_2898delinsTGT p.Arg966Cys Missense 24/27 - 1
17-37882851-G-A c.2909G>A p.Arg970Gln Missense 24/27 - 1
17-37882865-TG-T c.2923del p.Glu975Asnfs*85 Frameshift 24/27 - 1
17-37882870-C-G c.2928C>G p.Phe976Leu Missense 24/27 - 1
17-37882870-C-A c.2928C>A p.Phe976Leu Missense 24/27 - 1
17-37882868-T-C c.2926T>C p.Phe976Leu Missense 24/27 - 1
17-37882874-C-T c.2932C>T p.Arg978Cys Missense 24/27 - 1
17-37882909-C-G c.2967C>G p.Ile989Met Missense 24/27 - 1
17-37883068-A-G c.2971A>G p.Asn991Asp Missense 25/27 - 1
17-37883077-T-G c.2980T>G p.Leu994Val Missense 25/27 - 1
17-37883141-G-A c.3044G>A p.Gly1015Glu Missense 25/27 - 1
17-37883145-C-G c.3048C>G p.Asp1016Glu Missense 25/27 - 1
17-37883145-C-A c.3048C>A p.Asp1016Glu Missense 25/27 - 1
17-37883158-G-A c.3061G>A p.Glu1021Lys Missense 25/27 - 1
17-37883158-G-C c.3061G>C p.Glu1021Gln Missense 25/27 - 2
17-37883159-A-G c.3062A>G p.Glu1021Gly Missense 25/27 - 1
17-37883165-A-T c.3068A>T p.Tyr1023Phe Missense 25/27 - 1
17-37883186-T-G c.3089T>G p.Phe1030Cys Missense 25/27 - 1
17-37883201-C-T c.3104C>T p.Pro1035Leu Missense 25/27 - 1
17-37883207-C-T c.3110C>T p.Pro1037Leu Missense 25/27 - 1
17-37883228-A-G c.3131A>G p.His1044Arg Missense 25/27 - 1
17-37883236-CAC-TAA c.3139_3141delinsTAA p.His1047* Nonsense 25/27 - 1
17-37883236-CAC-AAG c.3139_3141delinsAAG p.His1047Lys Missense 25/27 - 2
17-37883237-A-G c.3140A>G p.His1047Arg Missense 25/27 - 60
17-37883237-A-T c.3140A>T p.His1047Leu Missense 25/27 - 9
17-37883239-C-T c.3142C>T p.Arg1048Cys Missense 25/27 - 1
17-37883242-AGC-TGA c.3145_3147delinsTGA p.Ser1049* Nonsense 25/27 - 1
17-37883246-C-G c.3149C>G p.Ser1050* Nonsense 25/27 - 1
17-37883246-C-A c.3149C>A p.Ser1050* Nonsense 25/27 - 1
17-37883246-C-T c.3149C>T p.Ser1050Leu Missense 25/27 - 5
17-37883249-CT-AA c.3152_3153delinsAA p.Ser1051* Nonsense 25/27 - 1
17-37883251-ACC-TAA c.3154_3156delinsTAA p.Thr1052* Nonsense 25/27 - 1
17-37883554-G-A c.3166G>A p.Gly1056Ser Missense 26/27 - 1
17-37883558-G-T c.3170G>T p.Gly1057Val Missense 26/27 - 1
17-37883566-AC-TA c.3178_3179delinsTA p.Thr1060* Nonsense 26/27 - 1
17-37883570-T-C c.3182T>C p.Leu1061Pro Missense 26/27 - 1
17-37883588-A-C c.3200A>C p.Glu1067Ala Missense 26/27 - 1
17-37883608-C-T c.3220C>T p.Pro1074Ser Missense 26/27 - 2
17-37883621-CC-AA c.3233_3234delinsAA p.Ser1078* Nonsense 26/27 - 1
17-37883623-G-A c.3235G>A p.Glu1079Lys Missense 26/27 - 1
17-37883626-G-A c.3238G>A p.Gly1080Arg Missense 26/27 - 1
17-37883633-G-C c.3245G>C p.Gly1082Ala Missense 26/27 - 1
17-37883636-CC-AA c.3248_3249delinsAA p.Ser1083* Nonsense 26/27 - 1
17-37883649-T-A c.3261T>A p.Asp1087Glu Missense 26/27 - 1
17-37883649-T-G c.3261T>G p.Asp1087Glu Missense 26/27 - 1
17-37883680-C-A c.3292C>A p.Leu1098Met Missense 26/27 - 1
17-37883685-A-G c.3297A>G p.Gln1099Gln Synonymous 26/27 - 1
17-37883686-AGC-TGA c.3298_3300delinsTGA p.Ser1100* Nonsense 26/27 - 1
17-37883695-AC-TA c.3307_3308delinsTA p.Thr1103* Nonsense 26/27 - 1
17-37883698-C-G c.3310C>G p.His1104Asp Missense 26/27 - 2
17-37883706-C-G c.3318C>G p.Pro1106Pro Synonymous 26/27 - 1
17-37883746-CT-GA c.3358_3359delinsGA p.Leu1120Glu Missense 26/27 - 1
17-37883763-T-A c.3375T>A p.Asp1125Glu Missense 26/27 - 1
17-37883763-T-G c.3375T>G p.Asp1125Glu Missense 26/27 - 1
17-37883770-G-A c.3382G>A p.Val1128Ile Missense 26/27 - 1
17-37883782-AC-TG c.3394_3395delinsTG p.Thr1132Cys Missense 26/27 - 1
17-37883945-A-T c.3416A>T p.Tyr1139Phe Missense 27/27 - 2
17-37883959-G-C c.3430G>C p.Asp1144His Missense 27/27 - 2
17-37883965-C-T c.3436C>T p.Arg1146Trp Missense 27/27 - 2
17-37883987-G-A c.3458G>A p.Arg1153Gln Missense 27/27 - 2
17-37883987-G-C c.3458G>C p.Arg1153Pro Missense 27/27 - 1
17-37884037-C-G c.3508C>G p.Pro1170Ala Missense 27/27 - 50
17-37884039-C-CT c.3510_3511insT p.Lys1171* Nonsense 27/27 - 1
17-37884043-AC-TG c.3514_3515delinsTG p.Thr1172Cys Missense 27/27 - 1
17-37884056-G-A c.3527G>A p.Gly1176Glu Missense 27/27 - 1
17-37884091-G-T c.3562G>T p.Gly1188Trp Missense 27/27 - 1
17-37884113-A-G c.3584A>G p.Glu1195Gly Missense 27/27 - 1
17-37884131-G-T c.3602G>T p.Gly1201Val Missense 27/27 - 1
17-37884145-C-T c.3616C>T p.Gln1206* Nonsense 27/27 - 1
17-37884152-A-G c.3623A>G p.His1208Arg Missense 27/27 - 1
17-37884154-C-A c.3625C>A p.Pro1209Thr Missense 27/27 - 1
17-37884164-C-G c.3635C>G p.Ala1212Gly Missense 27/27 - 1
17-37884176-C-A c.3647C>A p.Ala1216Asp Missense 27/27 - 3
17-37884185-A-G c.3656A>G p.Asn1219Ser Missense 27/27 - 1
17-37884191-A-G c.3662A>G p.Tyr1221Cys Missense 27/27 - 1
17-37884217-C-T c.3688C>T p.Arg1230Trp Missense 27/27 - 1
17-37884218-G-C c.3689G>C p.Arg1230Pro Missense 27/27 - 1
17-37884223-G-GG c.3694dup p.Ala1232Glyfs*45 Frameshift 27/27 - 1
17-37884226-C-T c.3697C>T p.Pro1233Ser Missense 27/27 - 1
17-37884254-C-T c.3725C>T p.Thr1242Met Missense 27/27 - 1
17-37884271-TAC-GAG c.3742_3744delinsGAG p.Tyr1248Glu Missense 27/27 - 1
17-37884272-A-T c.3743A>T p.Tyr1248Phe Missense 27/27 - 1
17-37884888-T-C c.*591T>C - 3-UTRSNV 27/27 - 1