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 |