11-2466289-G-A |
c.-40G>A |
- |
5-UTRSNV |
1/16 |
- |
1 |
11-2466329-A-G |
c.1A>G |
p.Met1? |
Missense |
1/16 |
- |
1 |
11-2466347-C-T |
c.19C>T |
p.Pro7Ser |
Missense |
1/16 |
- |
1 |
11-2466358-C-A |
c.30C>A |
p.Ala10Ala |
Synonymous |
1/16 |
- |
1 |
11-2466358-C-T |
c.30C>T |
p.Ala10Ala |
Synonymous |
1/16 |
- |
1 |
11-2466358-C-G |
c.30C>G |
p.Ala10Ala |
Synonymous |
1/16 |
- |
1 |
11-2466362-AG-GC |
c.34_35delinsGC |
p.Arg12Ala |
Missense |
1/16 |
- |
1 |
11-2466365-AA-GC |
c.37_38delinsGC |
p.Lys13Ala |
Missense |
1/16 |
- |
3 |
11-2466368-C-T |
c.40C>T |
p.Arg14Cys |
Missense |
1/16 |
- |
12 |
11-2466368-GCGC-G |
c.40_42del |
p.Arg14del |
InFrameDeletion |
1/16 |
- |
1 |
11-2466372-GG-AT |
c.44_45delinsAT |
p.Trp15Tyr |
Missense |
1/16 |
- |
1 |
11-2466374-G-C |
c.46G>C |
p.Gly16Arg |
Missense |
1/16 |
- |
4 |
11-2466383-C-T |
c.55C>T |
p.Arg19Cys |
Missense |
1/16 |
- |
3 |
11-2466393-G-C |
c.65G>C |
p.Gly22Ala |
Missense |
1/16 |
- |
1 |
11-2466405-G-A |
c.77G>A |
p.Gly26Asp |
Missense |
1/16 |
- |
1 |
11-2466407-AGC-GAG |
c.79_81delinsGAG |
p.Ser27Glu |
Missense |
1/16 |
- |
1 |
11-2466407-AG-GA |
c.79_80delinsGA |
p.Ser27Asp |
Missense |
1/16 |
- |
11 |
11-2466407-AG-GC |
c.79_80delinsGC |
p.Ser27Ala |
Missense |
1/16 |
- |
3 |
11-2466408-GC-AG |
c.80_81delinsAG |
p.Ser27Lys |
Missense |
1/16 |
- |
1 |
11-2466407-A-C |
c.79A>C |
p.Ser27Arg |
Missense |
1/16 |
- |
1 |
11-2466409-C-G |
c.81C>G |
p.Ser27Arg |
Missense |
1/16 |
- |
1 |
11-2466409-C-A |
c.81C>A |
p.Ser27Arg |
Missense |
1/16 |
- |
1 |
11-2466419-G-A |
c.91G>A |
p.Ala31Thr |
Missense |
1/16 |
- |
1 |
11-2466431-CC-GG |
c.103_104inv |
p.Pro35Gly |
Missense |
1/16 |
- |
2 |
11-2466434-T-G |
c.106T>G |
p.Phe36Val |
Missense |
1/16 |
- |
1 |
11-2466438-CG-GT |
c.110_111delinsGT |
p.Ser37Cys |
Missense |
1/16 |
- |
1 |
11-2466443-G-T |
c.115G>T |
p.Glu39* |
Nonsense |
1/16 |
- |
1 |
11-2466464-G-A |
c.136G>A |
p.Ala46Thr |
Missense |
1/16 |
- |
5 |
11-2466468-G-A |
c.140G>A |
p.Gly47Asp |
Missense |
1/16 |
- |
1 |
11-2466468-G-T |
c.140G>T |
p.Gly47Val |
Missense |
1/16 |
- |
1 |
11-2466479-T-TT |
c.151dup |
p.Tyr51Leufs*234 |
Frameshift |
1/16 |
- |
1 |
11-2466480-A-G |
c.152A>G |
p.Tyr51Cys |
Missense |
1/16 |
- |
1 |
11-2466481-C-G |
c.153C>G |
p.Tyr51* |
Nonsense |
1/16 |
- |
1 |
11-2466481-C-A |
c.153C>A |
p.Tyr51* |
Nonsense |
1/16 |
- |
1 |
11-2466486-C-G |
c.158C>G |
p.Pro53Arg |
Missense |
1/16 |
- |
1 |
11-2466488-A-AATCGCGCCC |
c.160_161insATCGCGCCC |
p.Ile54delinsAsnArgAlaLeu |
MultiAAMissense |
1/16 |
- |
1 |
11-2466498-G-T |
c.170G>T |
p.Gly57Val |
Missense |
1/16 |
- |
2 |
11-2466500-G-C |
c.172G>C |
p.Ala58Pro |
Missense |
1/16 |
- |
1 |
11-2466506-G-C |
c.178G>C |
p.Gly60Arg |
Missense |
1/16 |
- |
1 |
11-2466506-GGT-TGG |
c.178_180delinsTGG |
p.Gly60Trp |
Missense |
1/16 |
- |
1 |
11-2466512-G-A |
c.184G>A |
p.Ala62Thr |
Missense |
1/16 |
- |
1 |
11-2466516-C-A |
c.188C>A |
p.Pro63His |
Missense |
1/16 |
- |
1 |
11-2466519-CC-C |
c.191del |
p.Pro64Leufs*22 |
Frameshift |
1/16 |
- |
1 |
11-2466519-C-A |
c.191C>A |
p.Pro64His |
Missense |
1/16 |
- |
1 |
11-2466519-C-G |
c.191C>G |
p.Pro64Arg |
Missense |
1/16 |
- |
1 |
11-2466536-C-A |
c.208C>A |
p.Pro70Thr |
Missense |
1/16 |
- |
1 |
11-2466544-G-A |
c.216G>A |
p.Ala72Ala |
Synonymous |
1/16 |
- |
1 |
11-2466545-C-A |
c.217C>A |
p.Pro73Thr |
Missense |
1/16 |
- |
6 |
11-2466546-C-T |
c.218C>T |
p.Pro73Leu |
Missense |
1/16 |
- |
1 |
11-2466587-C-T |
c.259C>T |
p.Leu87Leu |
Synonymous |
1/16 |
- |
1 |
11-2466598-GC-G |
c.270del |
p.Val91Serfs*146 |
Frameshift |
1/16 |
- |
1 |
11-2466602-TC-GA |
c.274_275inv |
p.Ser92Asp |
Missense |
1/16 |
- |
1 |
11-2466602-T-G |
c.274T>G |
p.Ser92Ala |
Missense |
1/16 |
- |
1 |
11-2466615-C-G |
c.287C>G |
p.Thr96Arg |
Missense |
1/16 |
- |
2 |
11-2466620-CGC-TGG |
c.292_294delinsTGG |
p.Arg98Trp |
Missense |
1/16 |
- |
1 |
11-2466620-CG-GC |
c.292_293delinsGC |
p.Arg98Ala |
Missense |
1/16 |
- |
1 |
11-2466624-C-G |
c.296C>G |
p.Pro99Arg |
Missense |
1/16 |
- |
1 |
11-2466626-GTG-ATC |
c.298_300delinsATC |
p.Val100Ile |
Missense |
1/16 |
- |
2 |
11-2466632-G-T |
c.304G>T |
p.Ala102Ser |
Missense |
1/16 |
- |
2 |
11-2466639-C-T |
c.311C>T |
p.Thr104Ile |
Missense |
1/16 |
- |
4 |
11-2466639-C-G |
c.311C>G |
p.Thr104Ser |
Missense |
1/16 |
- |
1 |
11-2466638-A-T |
c.310A>T |
p.Thr104Ser |
Missense |
1/16 |
- |
1 |
11-2466641-C-A |
c.313C>A |
p.His105Asn |
Missense |
1/16 |
- |
1 |
11-2466641-C-T |
c.313C>T |
p.His105Tyr |
Missense |
1/16 |
- |
1 |
11-2466642-A-T |
c.314A>T |
p.His105Leu |
Missense |
1/16 |
- |
6 |
11-2466644-G-A |
c.316G>A |
p.Val106Ile |
Missense |
1/16 |
- |
1 |
11-2466647-C-T |
c.319C>T |
p.Gln107* |
Nonsense |
1/16 |
- |
1 |
11-2466649-G-C |
c.321G>C |
p.Gln107His |
Missense |
1/16 |
- |
4 |
11-2466649-G-T |
c.321G>T |
p.Gln107His |
Missense |
1/16 |
- |
4 |
11-2466650-G-T |
c.322G>T |
p.Gly108Cys |
Missense |
1/16 |
- |
1 |
11-2466654-G-T |
c.326G>T |
p.Arg109Leu |
Missense |
1/16 |
- |
5 |
11-2466656-G-A |
c.328G>A |
p.Val110Ile |
Missense |
1/16 |
- |
7 |
11-2466656-G-C |
c.328G>C |
p.Val110Leu |
Missense |
1/16 |
- |
1 |
11-2466659-TA-GC |
c.331_332delinsGC |
p.Tyr111Ala |
Missense |
1/16 |
- |
1 |
11-2466660-A-G |
c.332A>G |
p.Tyr111Cys |
Missense |
1/16 |
- |
23 |
11-2466668-CT-TG |
c.340_341delinsTG |
p.Leu114Cys |
Missense |
1/16 |
- |
1 |
11-2466669-T-C |
c.341T>C |
p.Leu114Pro |
Missense |
1/16 |
- |
9 |
11-2466671-G-A |
c.343G>A |
p.Glu115Lys |
Missense |
1/16 |
- |
1 |
11-2466672-A-G |
c.344A>G |
p.Glu115Gly |
Missense |
1/16 |
- |
4 |
11-2466675-G-T |
c.347G>T |
p.Arg116Leu |
Missense |
1/16 |
- |
2 |
11-2466677-CC-TG |
c.349_350delinsTG |
p.Pro117Cys |
Missense |
1/16 |
- |
1 |
11-2466678-C-T |
c.350C>T |
p.Pro117Leu |
Missense |
1/16 |
- |
12 |
11-2466680-A-T |
c.352A>T |
p.Thr118Ser |
Missense |
1/16 |
- |
1 |
11-2466681-C-G |
c.353C>G |
p.Thr118Ser |
Missense |
1/16 |
- |
1 |
11-2466683-G-C |
c.355G>C |
p.Gly119Arg |
Missense |
1/16 |
- |
2 |
11-2466684-G-A |
c.356G>A |
p.Gly119Asp |
Missense |
1/16 |
- |
2 |
11-2466685-C-A |
c.357C>A |
p.Gly119Gly |
Synonymous |
1/16 |
- |
1 |
11-2466686-TG-GC |
c.358_359delinsGC |
p.Trp120Ala |
Missense |
1/16 |
- |
1 |
11-2466688-G-T |
c.360G>T |
p.Trp120Cys |
Missense |
1/16 |
- |
2 |
11-2466688-G-C |
c.360G>C |
p.Trp120Cys |
Missense |
1/16 |
- |
2 |
11-2466689-AAA-TGT |
c.361_363delinsTGT |
p.Lys121Cys |
Missense |
1/16 |
- |
1 |
11-2466689-A-C |
c.361A>C |
p.Lys121Gln |
Missense |
1/16 |
- |
3 |
11-2466692-T-A |
c.364T>A |
p.Cys122Ser |
Missense |
1/16 |
- |
3 |
11-2466693-G-C |
c.365G>C |
p.Cys122Ser |
Missense |
1/16 |
- |
3 |
11-2466692-T-TT |
c.364dup |
p.Cys122Leufs*163 |
Frameshift |
1/16 |
- |
2 |
11-2466693-G-A |
c.365G>A |
p.Cys122Tyr |
Missense |
1/16 |
- |
5 |
11-2466695-TT-GC |
c.367_368delinsGC |
p.Phe123Ala |
Missense |
1/16 |
- |
1 |
11-2466696-T-G |
c.368T>G |
p.Phe123Cys |
Missense |
1/16 |
- |
1 |
11-2466698-G-A |
c.370G>A |
p.Val124Ile |
Missense |
1/16 |
- |
1 |
11-2466701-T-G |
c.373T>G |
p.Tyr125Asp |
Missense |
1/16 |
- |
3 |
11-2466704-CA-TG |
c.376_377inv |
p.His126Cys |
Missense |
1/16 |
- |
1 |
11-2466705-A-T |
c.377A>T |
p.His126Leu |
Missense |
1/16 |
- |
4 |
11-2466707-TT-GC |
c.379_380delinsGC |
p.Phe127Ala |
Missense |
1/16 |
- |
1 |
11-2466707-T-G |
c.379T>G |
p.Phe127Val |
Missense |
1/16 |
- |
1 |
11-2466707-T-C |
c.379T>C |
p.Phe127Leu |
Missense |
1/16 |
- |
7 |
11-2466709-C-A |
c.381C>A |
p.Phe127Leu |
Missense |
1/16 |
- |
7 |
11-2466709-C-G |
c.381C>G |
p.Phe127Leu |
Missense |
1/16 |
- |
7 |
11-2466710-G-A |
c.382G>A |
p.Ala128Thr |
Missense |
1/16 |
- |
1 |
11-2466713-G-A |
c.385G>A |
p.Val129Ile |
Missense |
1/16 |
- |
4 |
11-2466715-G-C |
c.386+1G>C |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2470750-C-T |
c.386+4036C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2471542-A-G |
c.386+4828A>G |
- |
IntronicSNV |
- |
1/15 |
2 |
11-2473131-G-A |
c.386+6417G>A |
- |
IntronicSNV |
- |
1/15 |
2 |
11-2473311-T-C |
c.386+6597T>C |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2473456-G-A |
c.386+6742G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2473980-G-A |
c.386+7266G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2475150-A-G |
c.386+8436A>G |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2478519-G-A |
c.386+11805G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2479195-C-T |
c.386+12481C>T |
- |
IntronicSNV |
- |
1/15 |
3 |
11-2480701-C-T |
c.386+13987C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2480701-C-A |
c.386+13987C>A |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2480701-C-G |
c.386+13987C>G |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2481140-T-C |
c.386+14426T>C |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2482092-C-T |
c.386+15378C>T |
- |
IntronicSNV |
- |
1/15 |
2 |
11-2482918-C-T |
c.386+16204C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2484803-T-C |
c.386+18089T>C |
- |
IntronicSNV |
- |
1/15 |
18 |
11-2484803-T-A |
c.386+18089T>A |
- |
IntronicSNV |
- |
1/15 |
18 |
11-2486120-T-G |
c.386+19406T>G |
- |
IntronicSNV |
- |
1/15 |
2 |
11-2486550-C-T |
c.386+19836C>T |
- |
IntronicSNV |
- |
1/15 |
3 |
11-2489342-C-T |
c.386+22628C>T |
- |
IntronicSNV |
- |
1/15 |
16 |
11-2497501-C-T |
c.386+30787C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2499178-G-A |
c.386+32464G>A |
- |
IntronicSNV |
- |
1/15 |
5 |
11-2502319-C-T |
c.386+35605C>T |
- |
IntronicSNV |
- |
1/15 |
12 |
11-2502326-G-A |
c.386+35612G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2525395-G-A |
c.387-23763G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2527306-G-C |
c.387-21852G>C |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2528003-C-T |
c.387-21155C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2533209-G-A |
c.387-15949G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2533291-C-T |
c.387-15867C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2534262-C-T |
c.387-14896C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2536525-G-A |
c.387-12633G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2537748-G-A |
c.387-11410G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2542553-G-A |
c.387-6605G>A |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2543017-C-T |
c.387-6141C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2548175-C-T |
c.387-983C>T |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2549061-G-C |
c.387-97G>C |
- |
IntronicSNV |
- |
1/15 |
1 |
11-2549153-T-A |
c.387-5T>A |
- |
IntronicSNV |
- |
1/15 |
4 |
11-2549159-TT-GC |
c.388_389delinsGC |
p.Phe130Ala |
Missense |
2/16 |
- |
1 |
11-2549160-T-G |
c.389T>G |
p.Phe130Cys |
Missense |
2/16 |
- |
2 |
11-2549163-T-C |
c.392T>C |
p.Leu131Pro |
Missense |
2/16 |
- |
5 |
11-2549165-A-C |
c.394A>C |
p.Ile132Leu |
Missense |
2/16 |
- |
3 |
11-2549168-G-A |
c.397G>A |
p.Val133Ile |
Missense |
2/16 |
- |
4 |
11-2549172-T-C |
c.401T>C |
p.Leu134Pro |
Missense |
2/16 |
- |
5 |
11-2549174-G-A |
c.403G>A |
p.Val135Ile |
Missense |
2/16 |
- |
1 |
11-2549175-T-C |
c.404T>C |
p.Val135Ala |
Missense |
2/16 |
- |
1 |
11-2549178-G-C |
c.407G>C |
p.Cys136Ser |
Missense |
2/16 |
- |
1 |
11-2549177-TG-GT |
c.406_407delinsGT |
p.Cys136Val |
Missense |
2/16 |
- |
1 |
11-2549177-TG-GC |
c.406_407delinsGC |
p.Cys136Ala |
Missense |
2/16 |
- |
1 |
11-2549177-T-A |
c.406T>A |
p.Cys136Ser |
Missense |
2/16 |
- |
1 |
11-2549178-G-T |
c.407G>T |
p.Cys136Phe |
Missense |
2/16 |
- |
4 |
11-2549180-C-T |
c.409C>T |
p.Leu137Phe |
Missense |
2/16 |
- |
2 |
11-2549181-T-C |
c.410T>C |
p.Leu137Pro |
Missense |
2/16 |
- |
1 |
11-2549189-A-T |
c.418A>T |
p.Ser140Cys |
Missense |
2/16 |
- |
3 |
11-2549189-A-G |
c.418A>G |
p.Ser140Gly |
Missense |
2/16 |
- |
63 |
11-2549189-AGC-TGG |
c.418_420delinsTGG |
p.Ser140Trp |
Missense |
2/16 |
- |
1 |
11-2549189-AG-CC |
c.418_419delinsCC |
p.Ser140Pro |
Missense |
2/16 |
- |
2 |
11-2549189-AG-GA |
c.418_419delinsGA |
p.Ser140Asp |
Missense |
2/16 |
- |
1 |
11-2549189-AG-GC |
c.418_419delinsGC |
p.Ser140Ala |
Missense |
2/16 |
- |
1 |
11-2549189-A-C |
c.418A>C |
p.Ser140Arg |
Missense |
2/16 |
- |
2 |
11-2549191-C-G |
c.420C>G |
p.Ser140Arg |
Missense |
2/16 |
- |
2 |
11-2549191-C-A |
c.420C>A |
p.Ser140Arg |
Missense |
2/16 |
- |
2 |
11-2549192-GTG-TGT |
c.421_423delinsTGT |
p.Val141Cys |
Missense |
2/16 |
- |
3 |
11-2549192-GT-AC |
c.421_422inv |
p.Val141Thr |
Missense |
2/16 |
- |
1 |
11-2549192-G-C |
c.421G>C |
p.Val141Leu |
Missense |
2/16 |
- |
1 |
11-2549192-G-A |
c.421G>A |
p.Val141Met |
Missense |
2/16 |
- |
41 |
11-2549192-G-T |
c.421G>T |
p.Val141Leu |
Missense |
2/16 |
- |
1 |
11-2549192-GT-TG |
c.421_422delinsTG |
p.Val141Trp |
Missense |
2/16 |
- |
1 |
11-2549193-TG-AC |
c.422_423delinsAC |
p.Val141Asp |
Missense |
2/16 |
- |
1 |
11-2549193-T-G |
c.422T>G |
p.Val141Gly |
Missense |
2/16 |
- |
1 |
11-2549193-T-C |
c.422T>C |
p.Val141Ala |
Missense |
2/16 |
- |
1 |
11-2549195-CTG-TGT |
c.424_426delinsTGT |
p.Leu142Cys |
Missense |
2/16 |
- |
3 |
11-2549198-T-A |
c.427T>A |
p.Ser143Thr |
Missense |
2/16 |
- |
1 |
11-2549198-TC-CT |
c.427_428delinsCT |
p.Ser143Leu |
Missense |
2/16 |
- |
1 |
11-2549199-C-A |
c.428C>A |
p.Ser143Tyr |
Missense |
2/16 |
- |
1 |
11-2549199-C-G |
c.428C>G |
p.Ser143Cys |
Missense |
2/16 |
- |
3 |
11-2549201-A-G |
c.430A>G |
p.Thr144Ala |
Missense |
2/16 |
- |
5 |
11-2549201-AC-TG |
c.430_431delinsTG |
p.Thr144Cys |
Missense |
2/16 |
- |
5 |
11-2549204-AT-TG |
c.433_434delinsTG |
p.Ile145Cys |
Missense |
2/16 |
- |
7 |
11-2549206-C-T |
c.435C>T |
p.Ile145Ile |
Synonymous |
2/16 |
- |
3 |
11-2549207-GAG-TGT |
c.436_438delinsTGT |
p.Glu146Cys |
Missense |
2/16 |
- |
1 |
11-2549207-G-A |
c.436G>A |
p.Glu146Lys |
Missense |
2/16 |
- |
7 |
11-2549207-G-C |
c.436G>C |
p.Glu146Gln |
Missense |
2/16 |
- |
1 |
11-2549208-A-G |
c.437A>G |
p.Glu146Gly |
Missense |
2/16 |
- |
3 |
11-2549209-G-T |
c.438G>T |
p.Glu146Asp |
Missense |
2/16 |
- |
1 |
11-2549209-G-C |
c.438G>C |
p.Glu146Asp |
Missense |
2/16 |
- |
1 |
11-2549210-CAG-TGT |
c.439_441delinsTGT |
p.Gln147Cys |
Missense |
2/16 |
- |
5 |
11-2549211-A-G |
c.440A>G |
p.Gln147Arg |
Missense |
2/16 |
- |
11 |
11-2549214-TA-T |
c.443del |
p.Tyr148Leufs*89 |
Frameshift |
2/16 |
- |
1 |
11-2549214-A-G |
c.443A>G |
p.Tyr148Cys |
Missense |
2/16 |
- |
1 |
11-2549215-T-A |
c.444T>A |
p.Tyr148* |
Nonsense |
2/16 |
- |
3 |
11-2549215-T-G |
c.444T>G |
p.Tyr148* |
Nonsense |
2/16 |
- |
3 |
11-2549216-GC-TG |
c.445_446delinsTG |
p.Ala149Cys |
Missense |
2/16 |
- |
1 |
11-2549217-C-T |
c.446C>T |
p.Ala149Val |
Missense |
2/16 |
- |
2 |
11-2549219-G-A |
c.448G>A |
p.Ala150Thr |
Missense |
2/16 |
- |
3 |
11-2549219-GCC-AAG |
c.448_450delinsAAG |
p.Ala150Lys |
Missense |
2/16 |
- |
1 |
11-2549220-C-G |
c.449C>G |
p.Ala150Gly |
Missense |
2/16 |
- |
4 |
11-2549220-C-T |
c.449C>T |
p.Ala150Val |
Missense |
2/16 |
- |
1 |
11-2549222-CTG-TGT |
c.451_453delinsTGT |
p.Leu151Cys |
Missense |
2/16 |
- |
1 |
11-2549229-C-T |
c.458C>T |
p.Thr153Met |
Missense |
2/16 |
- |
3 |
11-2549234-AC-TG |
c.463_464delinsTG |
p.Thr155Cys |
Missense |
2/16 |
- |
1 |
11-2549241-T-A |
c.470T>A |
p.Phe157Tyr |
Missense |
2/16 |
- |
1 |
11-2549241-T-G |
c.470T>G |
p.Phe157Cys |
Missense |
2/16 |
- |
3 |
11-2549249-G-A |
c.477+1G>A |
- |
IntronicSNV |
- |
2/15 |
2 |
11-2549253-G-A |
c.477+5G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
11-2551363-G-A |
c.477+2115G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
11-2552769-G-A |
c.477+3521G>A |
- |
IntronicSNV |
- |
2/15 |
2 |
11-2553553-G-A |
c.477+4305G>A |
- |
IntronicSNV |
- |
2/15 |
1 |
11-2553560-T-C |
c.477+4312T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
11-2553601-C-A |
c.477+4353C>A |
- |
IntronicSNV |
- |
2/15 |
1 |
11-2553703-G-A |
c.477+4455G>A |
- |
IntronicSNV |
- |
2/15 |
2 |
11-2554149-A-G |
c.477+4901A>G |
- |
IntronicSNV |
- |
2/15 |
2 |
11-2556255-T-C |
c.477+7007T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
11-2580212-A-G |
c.478-11646A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
11-2580299-T-A |
c.478-11559T>A |
- |
IntronicSNV |
- |
2/15 |
1 |
11-2580299-T-C |
c.478-11559T>C |
- |
IntronicSNV |
- |
2/15 |
1 |
11-2586861-CCCGTGGCCTATCTTGTTTTGGGGGGCAGGGACCCAGAAACTCATTGCTTTCAGGCCTTG-C |
c.478-4996_478-4938del |
- |
Unclassified |
- |
2/15 |
1 |
11-2588006-A-G |
c.478-3852A>G |
- |
IntronicSNV |
- |
2/15 |
1 |
11-2591840-C-CAAGGC |
c.478-18_478-17insAAGGC |
- |
IntronicInsertion |
- |
2/15 |
1 |
11-2591856-A-T |
c.478-2A>T |
- |
IntronicSNV |
- |
2/15 |
3 |
11-2591858-GAG-TGT |
c.478_480delinsTGT |
p.Glu160Cys |
Missense |
3/16 |
- |
2 |
11-2591858-G-A |
c.478G>A |
p.Glu160Lys |
Missense |
3/16 |
- |
11 |
11-2591858-G-C |
c.478G>C |
p.Glu160Gln |
Missense |
3/16 |
- |
3 |
11-2591858-GA-AG |
c.478_479delinsAG |
p.Glu160Arg |
Missense |
3/16 |
- |
11 |
11-2591859-A-T |
c.479A>T |
p.Glu160Val |
Missense |
3/16 |
- |
2 |
11-2591859-A-C |
c.479A>C |
p.Glu160Ala |
Missense |
3/16 |
- |
4 |
11-2591864-G-A |
c.484G>A |
p.Val162Met |
Missense |
3/16 |
- |
3 |
11-2591868-CT-C |
c.488del |
p.Leu163Argfs*74 |
Frameshift |
3/16 |
- |
1 |
11-2591870-GTG-TGT |
c.490_492delinsTGT |
p.Val164Cys |
Missense |
3/16 |
- |
1 |
11-2591873-GTG-TGT |
c.493_495delinsTGT |
p.Val165Cys |
Missense |
3/16 |
- |
2 |
11-2591879-CTTC-C |
c.499_501del |
p.Phe167del |
InFrameDeletion |
3/16 |
- |
1 |
11-2591879-TT-CG |
c.499_500delinsCG |
p.Phe167Arg |
Missense |
3/16 |
- |
1 |
11-2591882-G-C |
c.502G>C |
p.Gly168Arg |
Missense |
3/16 |
- |
12 |
11-2591882-G-A |
c.502G>A |
p.Gly168Arg |
Missense |
3/16 |
- |
12 |
11-2591886-C-T |
c.506C>T |
p.Thr169Met |
Missense |
3/16 |
- |
3 |
11-2591886-C-G |
c.506C>G |
p.Thr169Arg |
Missense |
3/16 |
- |
2 |
11-2591888-GA-AG |
c.508_509delinsAG |
p.Glu170Arg |
Missense |
3/16 |
- |
1 |
11-2591889-A-G |
c.509A>G |
p.Glu170Gly |
Missense |
3/16 |
- |
2 |
11-2591893-C-A |
c.513C>A |
p.Tyr171* |
Nonsense |
3/16 |
- |
8 |
11-2591894-G-A |
c.514G>A |
p.Val172Met |
Missense |
3/16 |
- |
3 |
11-2591898-T-A |
c.518T>A |
p.Val173Asp |
Missense |
3/16 |
- |
1 |
11-2591900-C-T |
c.520C>T |
p.Arg174Cys |
Missense |
3/16 |
- |
9 |
11-2591901-G-T |
c.521G>T |
p.Arg174Leu |
Missense |
3/16 |
- |
2 |
11-2591901-G-A |
c.521G>A |
p.Arg174His |
Missense |
3/16 |
- |
6 |
11-2591906-T-C |
c.526T>C |
p.Trp176Arg |
Missense |
3/16 |
- |
4 |
11-2591906-T-A |
c.526T>A |
p.Trp176Arg |
Missense |
3/16 |
- |
4 |
11-2591907-G-A |
c.527G>A |
p.Trp176* |
Nonsense |
3/16 |
- |
1 |
11-2591908-G-A |
c.528G>A |
p.Trp176* |
Nonsense |
3/16 |
- |
1 |
11-2591912-G-A |
c.532G>A |
p.Ala178Thr |
Missense |
3/16 |
- |
4 |
11-2591912-G-C |
c.532G>C |
p.Ala178Pro |
Missense |
3/16 |
- |
1 |
11-2591915-G-T |
c.535G>T |
p.Gly179Cys |
Missense |
3/16 |
- |
1 |
11-2591915-G-A |
c.535G>A |
p.Gly179Ser |
Missense |
3/16 |
- |
11 |
11-2591916-G-C |
c.536G>C |
p.Gly179Ala |
Missense |
3/16 |
- |
1 |
11-2591918-T-A |
c.538T>A |
p.Cys180Ser |
Missense |
3/16 |
- |
2 |
11-2591919-G-C |
c.539G>C |
p.Cys180Ser |
Missense |
3/16 |
- |
2 |
11-2591921-C-T |
c.541C>T |
p.Arg181Cys |
Missense |
3/16 |
- |
1 |
11-2591922-GC-AA |
c.542_543delinsAA |
p.Arg181Gln |
Missense |
3/16 |
- |
1 |
11-2591927-AAG-TGT |
c.547_549delinsTGT |
p.Lys183Cys |
Missense |
3/16 |
- |
1 |
11-2591927-A-G |
c.547A>G |
p.Lys183Glu |
Missense |
3/16 |
- |
1 |
11-2591927-A-C |
c.547A>C |
p.Lys183Gln |
Missense |
3/16 |
- |
1 |
11-2591928-A-G |
c.548A>G |
p.Lys183Arg |
Missense |
3/16 |
- |
2 |
11-2591928-A-T |
c.548A>T |
p.Lys183Met |
Missense |
3/16 |
- |
3 |
11-2591929-G-C |
c.549G>C |
p.Lys183Asn |
Missense |
3/16 |
- |
2 |
11-2591929-G-T |
c.549G>T |
p.Lys183Asn |
Missense |
3/16 |
- |
2 |
11-2591930-T-C |
c.550T>C |
p.Tyr184His |
Missense |
3/16 |
- |
1 |
11-2591931-A-C |
c.551A>C |
p.Tyr184Ser |
Missense |
3/16 |
- |
6 |
11-2591931-A-G |
c.551A>G |
p.Tyr184Cys |
Missense |
3/16 |
- |
1 |
11-2591933-GT-AG |
c.553_554delinsAG |
p.Val185Arg |
Missense |
3/16 |
- |
1 |
11-2591936-G-C |
c.556G>C |
p.Gly186Arg |
Missense |
3/16 |
- |
1 |
11-2591936-G-T |
c.556G>T |
p.Gly186Cys |
Missense |
3/16 |
- |
2 |
11-2591937-G-A |
c.557G>A |
p.Gly186Asp |
Missense |
3/16 |
- |
1 |
11-2591940-T-C |
c.560T>C |
p.Leu187Pro |
Missense |
3/16 |
- |
2 |
11-2591942-T-C |
c.562T>C |
p.Trp188Arg |
Missense |
3/16 |
- |
1 |
11-2591942-T-A |
c.562T>A |
p.Trp188Arg |
Missense |
3/16 |
- |
1 |
11-2591945-G-C |
c.565G>C |
p.Gly189Arg |
Missense |
3/16 |
- |
6 |
11-2591945-G-A |
c.565G>A |
p.Gly189Arg |
Missense |
3/16 |
- |
6 |
11-2591946-G-C |
c.566G>C |
p.Gly189Ala |
Missense |
3/16 |
- |
3 |
11-2591946-G-A |
c.566G>A |
p.Gly189Glu |
Missense |
3/16 |
- |
4 |
11-2591948-CG-GC |
c.568_569delinsGC |
p.Arg190Ala |
Missense |
3/16 |
- |
1 |
11-2591948-CGG-TGT |
c.568_570delinsTGT |
p.Arg190Cys |
Missense |
3/16 |
- |
1 |
11-2591948-C-T |
c.568C>T |
p.Arg190Trp |
Missense |
3/16 |
- |
8 |
11-2591949-G-C |
c.569G>C |
p.Arg190Pro |
Missense |
3/16 |
- |
2 |
11-2591949-G-A |
c.569G>A |
p.Arg190Gln |
Missense |
3/16 |
- |
60 |
11-2591949-G-T |
c.569G>T |
p.Arg190Leu |
Missense |
3/16 |
- |
4 |
11-2591952-T-C |
c.572T>C |
p.Leu191Pro |
Missense |
3/16 |
- |
4 |
11-2591953-TGCGCT-T |
c.573_577del |
p.Arg192Cysfs*91 |
Frameshift |
3/16 |
- |
5 |
11-2591954-C-T |
c.574C>T |
p.Arg192Cys |
Missense |
3/16 |
- |
4 |
11-2591955-G-A |
c.575G>A |
p.Arg192His |
Missense |
3/16 |
- |
2 |
11-2591955-G-C |
c.575G>C |
p.Arg192Pro |
Missense |
3/16 |
- |
2 |
11-2591955-GC-AA |
c.575_576delinsAA |
p.Arg192Gln |
Missense |
3/16 |
- |
1 |
11-2591957-T-C |
c.577T>C |
p.Phe193Leu |
Missense |
3/16 |
- |
3 |
11-2591959-T-A |
c.579T>A |
p.Phe193Leu |
Missense |
3/16 |
- |
3 |
11-2591959-T-G |
c.579T>G |
p.Phe193Leu |
Missense |
3/16 |
- |
3 |
11-2591960-GC-TG |
c.580_581delinsTG |
p.Ala194Cys |
Missense |
3/16 |
- |
1 |
11-2591963-CGG-TGT |
c.583_585delinsTGT |
p.Arg195Cys |
Missense |
3/16 |
- |
1 |
11-2591963-C-T |
c.583C>T |
p.Arg195Trp |
Missense |
3/16 |
- |
2 |
11-2591964-G-A |
c.584G>A |
p.Arg195Gln |
Missense |
3/16 |
- |
4 |
11-2591964-G-C |
c.584G>C |
p.Arg195Pro |
Missense |
3/16 |
- |
4 |
11-2591966-A-G |
c.586A>G |
p.Lys196Glu |
Missense |
3/16 |
- |
1 |
11-2591966-AAG-TGT |
c.586_588delinsTGT |
p.Lys196Cys |
Missense |
3/16 |
- |
1 |
11-2591967-A-C |
c.587A>C |
p.Lys196Thr |
Missense |
3/16 |
- |
2 |
11-2591968-G-T |
c.588G>T |
p.Lys196Asn |
Missense |
3/16 |
- |
1 |
11-2591968-G-C |
c.588G>C |
p.Lys196Asn |
Missense |
3/16 |
- |
1 |
11-2591969-C-T |
c.589C>T |
p.Pro197Ser |
Missense |
3/16 |
- |
3 |
11-2591970-C-T |
c.590C>T |
p.Pro197Leu |
Missense |
3/16 |
- |
5 |
11-2591972-A-G |
c.592A>G |
p.Ile198Val |
Missense |
3/16 |
- |
5 |
11-2591975-T-G |
c.595T>G |
p.Ser199Ala |
Missense |
3/16 |
- |
1 |
11-2591979-T-A |
c.599T>A |
p.Ile200Asn |
Missense |
3/16 |
- |
1 |
11-2591981-ATC-ATCATC |
c.601_603dup |
p.Ile201dup |
SpliceDonorInsertion |
3/16 |
- |
1 |
11-2591981-AT-TG |
c.601_602delinsTG |
p.Ile201Cys |
Missense |
3/16 |
- |
1 |
11-2591984-G-C |
c.604G>C |
p.Asp202His |
Missense |
3/16 |
- |
6 |
11-2591984-G-A |
c.604G>A |
p.Asp202Asn |
Missense |
3/16 |
- |
5 |
11-2592553-A-G |
c.605-2A>G |
- |
IntronicSNV |
- |
3/15 |
1 |
11-2592555-A-G |
c.605A>G |
p.Asp202Gly |
Missense |
4/16 |
- |
2 |
11-2592555-A-C |
c.605A>C |
p.Asp202Ala |
Missense |
4/16 |
- |
1 |
11-2592556-C-A |
c.606C>A |
p.Asp202Glu |
Missense |
4/16 |
- |
1 |
11-2592556-C-G |
c.606C>G |
p.Asp202Glu |
Missense |
4/16 |
- |
1 |
11-2592558-T-C |
c.608T>C |
p.Leu203Pro |
Missense |
4/16 |
- |
1 |
11-2592560-A-T |
c.610A>T |
p.Ile204Phe |
Missense |
4/16 |
- |
5 |
11-2592560-AT-GC |
c.610_611delinsGC |
p.Ile204Ala |
Missense |
4/16 |
- |
1 |
11-2592561-T-A |
c.611T>A |
p.Ile204Asn |
Missense |
4/16 |
- |
1 |
11-2592562-C-G |
c.612C>G |
p.Ile204Met |
Missense |
4/16 |
- |
4 |
11-2592563-G-A |
c.613G>A |
p.Val205Met |
Missense |
4/16 |
- |
11 |
11-2592563-G-T |
c.613G>T |
p.Val205Leu |
Missense |
4/16 |
- |
1 |
11-2592563-G-C |
c.613G>C |
p.Val205Leu |
Missense |
4/16 |
- |
1 |
11-2592564-T-C |
c.614T>C |
p.Val205Ala |
Missense |
4/16 |
- |
1 |
11-2592566-GT-TG |
c.616_617delinsTG |
p.Val206Cys |
Missense |
4/16 |
- |
1 |
11-2592569-GTG-TGT |
c.619_621delinsTGT |
p.Val207Cys |
Missense |
4/16 |
- |
1 |
11-2592569-G-A |
c.619G>A |
p.Val207Met |
Missense |
4/16 |
- |
5 |
11-2592575-T-C |
c.625T>C |
p.Ser209Pro |
Missense |
4/16 |
- |
10 |
11-2592575-TCC-ATG |
c.625_627delinsATG |
p.Ser209Met |
Missense |
4/16 |
- |
1 |
11-2592575-TC-CT |
c.625_626delinsCT |
p.Ser209Leu |
Missense |
4/16 |
- |
1 |
11-2592576-C-T |
c.626C>T |
p.Ser209Phe |
Missense |
4/16 |
- |
9 |
11-2592580-G-T |
c.630G>T |
p.Met210Ile |
Missense |
4/16 |
- |
1 |
11-2592580-G-C |
c.630G>C |
p.Met210Ile |
Missense |
4/16 |
- |
1 |
11-2592580-G-A |
c.630G>A |
p.Met210Ile |
Missense |
4/16 |
- |
1 |
11-2592590-T-A |
c.640T>A |
p.Cys214Ser |
Missense |
4/16 |
- |
2 |
11-2592590-TG-GC |
c.640_641delinsGC |
p.Cys214Ala |
Missense |
4/16 |
- |
14 |
11-2592591-G-C |
c.641G>C |
p.Cys214Ser |
Missense |
4/16 |
- |
2 |
11-2592593-GT-CC |
c.643_644delinsCC |
p.Val215Pro |
Missense |
4/16 |
- |
1 |
11-2592593-GTG-TGT |
c.643_645delinsTGT |
p.Val215Cys |
Missense |
4/16 |
- |
1 |
11-2592593-G-T |
c.643G>T |
p.Val215Leu |
Missense |
4/16 |
- |
1 |
11-2592593-G-C |
c.643G>C |
p.Val215Leu |
Missense |
4/16 |
- |
1 |
11-2592593-G-A |
c.643G>A |
p.Val215Met |
Missense |
4/16 |
- |
5 |
11-2592594-T-C |
c.644T>C |
p.Val215Ala |
Missense |
4/16 |
- |
1 |
11-2592594-T-G |
c.644T>G |
p.Val215Gly |
Missense |
4/16 |
- |
2 |
11-2592597-GG-G |
c.647del |
p.Gly216Alafs*21 |
Frameshift |
4/16 |
- |
1 |
11-2592597-G-A |
c.647G>A |
p.Gly216Asp |
Missense |
4/16 |
- |
1 |
11-2592600-C-G |
c.650C>G |
p.Ser217Cys |
Missense |
4/16 |
- |
1 |
11-2592602-AA-GC |
c.652_653delinsGC |
p.Lys218Ala |
Missense |
4/16 |
- |
2 |
11-2592602-A-G |
c.652A>G |
p.Lys218Glu |
Missense |
4/16 |
- |
4 |
11-2592602-AAG-TGT |
c.652_654delinsTGT |
p.Lys218Cys |
Missense |
4/16 |
- |
4 |
11-2592605-GGG-TGT |
c.655_657delinsTGT |
p.Gly219Cys |
Missense |
4/16 |
- |
13 |
11-2592608-CAG-TGT |
c.658_660delinsTGT |
p.Gln220Cys |
Missense |
4/16 |
- |
2 |
11-2592608-C-A |
c.658C>A |
p.Gln220Lys |
Missense |
4/16 |
- |
1 |
11-2592611-GTG-TGT |
c.661_663delinsTGT |
p.Val221Cys |
Missense |
4/16 |
- |
3 |
11-2592611-GT-TG |
c.661_662delinsTG |
p.Val221Trp |
Missense |
4/16 |
- |
1 |
11-2592614-GTTTGCCACGTCGGCCATC-G |
c.664_681del |
p.Phe222_Ile227del |
InFrameDeletion |
4/16 |
- |
1 |
11-2592615-T-G |
c.665T>G |
p.Phe222Cys |
Missense |
4/16 |
- |
4 |
11-2592617-GCC-TGG |
c.667_669delinsTGG |
p.Ala223Trp |
Missense |
4/16 |
- |
1 |
11-2592617-GC-TG |
c.667_668delinsTG |
p.Ala223Cys |
Missense |
4/16 |
- |
4 |
11-2592620-ACG-TGT |
c.670_672delinsTGT |
p.Thr224Cys |
Missense |
4/16 |
- |
6 |
11-2592621-C-T |
c.671C>T |
p.Thr224Met |
Missense |
4/16 |
- |
2 |
11-2592624-CG-GT |
c.674_675delinsGT |
p.Ser225Cys |
Missense |
4/16 |
- |
2 |
11-2592624-C-T |
c.674C>T |
p.Ser225Leu |
Missense |
4/16 |
- |
13 |
11-2592624-C-G |
c.674C>G |
p.Ser225Trp |
Missense |
4/16 |
- |
2 |
11-2592626-GCC-TGG |
c.676_678delinsTGG |
p.Ala226Trp |
Missense |
4/16 |
- |
2 |
11-2592626-GC-TG |
c.676_677delinsTG |
p.Ala226Cys |
Missense |
4/16 |
- |
8 |
11-2592626-G-T |
c.676G>T |
p.Ala226Ser |
Missense |
4/16 |
- |
1 |
11-2592627-C-T |
c.677C>T |
p.Ala226Val |
Missense |
4/16 |
- |
2 |
11-2592629-AT-TG |
c.679_680delinsTG |
p.Ile227Cys |
Missense |
4/16 |
- |
3 |
11-2592629-ATC-TGG |
c.679_681delinsTGG |
p.Ile227Trp |
Missense |
4/16 |
- |
1 |
11-2592629-A-C |
c.679A>C |
p.Ile227Leu |
Missense |
4/16 |
- |
5 |
11-2592632-AG-GA |
c.682_683delinsGA |
p.Arg228Glu |
Missense |
4/16 |
- |
2 |
11-2592632-AG-GC |
c.682_683delinsGC |
p.Arg228Ala |
Missense |
4/16 |
- |
4 |
11-2592632-AG-CA |
c.682_683delinsCA |
p.Arg228Gln |
Missense |
4/16 |
- |
5 |
11-2592632-A-T |
c.682A>T |
p.Arg228Trp |
Missense |
4/16 |
- |
1 |
11-2592635-T-G |
c.683+2T>G |
- |
IntronicSNV |
- |
4/15 |
1 |
11-2593244-GGC-TGG |
c.685_687delinsTGG |
p.Gly229Trp |
Missense |
5/16 |
- |
1 |
11-2593244-G-T |
c.685G>T |
p.Gly229Cys |
Missense |
5/16 |
- |
5 |
11-2593245-G-A |
c.686G>A |
p.Gly229Asp |
Missense |
5/16 |
- |
7 |
11-2593247-A-C |
c.688A>C |
p.Ile230Leu |
Missense |
5/16 |
- |
1 |
11-2593247-AT-TG |
c.688_689delinsTG |
p.Ile230Cys |
Missense |
5/16 |
- |
4 |
11-2593247-ATC-TGG |
c.688_690delinsTGG |
p.Ile230Trp |
Missense |
5/16 |
- |
1 |
11-2593250-CG-GC |
c.691_692delinsGC |
p.Arg231Ala |
Missense |
5/16 |
- |
12 |
11-2593250-CGC-TGG |
c.691_693delinsTGG |
p.Arg231Trp |
Missense |
5/16 |
- |
4 |
11-2593250-C-T |
c.691C>T |
p.Arg231Cys |
Missense |
5/16 |
- |
23 |
11-2593251-G-A |
c.692G>A |
p.Arg231His |
Missense |
5/16 |
- |
11 |
11-2593251-GC-AA |
c.692_693delinsAA |
p.Arg231Gln |
Missense |
5/16 |
- |
1 |
11-2593252-C-T |
c.693C>T |
p.Arg231Arg |
Synonymous |
5/16 |
- |
1 |
11-2593253-TT-GC |
c.694_695delinsGC |
p.Phe232Ala |
Missense |
5/16 |
- |
3 |
11-2593254-T-G |
c.695T>G |
p.Phe232Cys |
Missense |
5/16 |
- |
5 |
11-2593256-C-A |
c.697C>A |
p.Leu233Met |
Missense |
5/16 |
- |
1 |
11-2593256-CT-TG |
c.697_698delinsTG |
p.Leu233Trp |
Missense |
5/16 |
- |
3 |
11-2593256-CTG-TGT |
c.697_699delinsTGT |
p.Leu233Cys |
Missense |
5/16 |
- |
1 |
11-2593259-CA-TG |
c.700_701inv |
p.Gln234Trp |
Missense |
5/16 |
- |
1 |
11-2593259-CAG-TGT |
c.700_702delinsTGT |
p.Gln234Cys |
Missense |
5/16 |
- |
1 |
11-2593259-C-G |
c.700C>G |
p.Gln234Glu |
Missense |
5/16 |
- |
1 |
11-2593260-A-G |
c.701A>G |
p.Gln234Arg |
Missense |
5/16 |
- |
4 |
11-2593260-A-C |
c.701A>C |
p.Gln234Pro |
Missense |
5/16 |
- |
3 |
11-2593262-ATC-TGG |
c.703_705delinsTGG |
p.Ile235Trp |
Missense |
5/16 |
- |
2 |
11-2593263-T-A |
c.704T>A |
p.Ile235Asn |
Missense |
5/16 |
- |
7 |
11-2593265-CTG-TGT |
c.706_708delinsTGT |
p.Leu236Cys |
Missense |
5/16 |
- |
1 |
11-2593265-CT-TG |
c.706_707delinsTG |
p.Leu236Trp |
Missense |
5/16 |
- |
1 |
11-2593266-T-C |
c.707T>C |
p.Leu236Pro |
Missense |
5/16 |
- |
4 |
11-2593266-T-G |
c.707T>G |
p.Leu236Arg |
Missense |
5/16 |
- |
4 |
11-2593268-AG-GC |
c.709_710delinsGC |
p.Arg237Ala |
Missense |
5/16 |
- |
6 |
11-2593268-AG-GA |
c.709_710delinsGA |
p.Arg237Glu |
Missense |
5/16 |
- |
2 |
11-2593268-AG-CC |
c.709_710delinsCC |
p.Arg237Pro |
Missense |
5/16 |
- |
1 |
11-2593268-A-T |
c.709A>T |
p.Arg237Trp |
Missense |
5/16 |
- |
2 |
11-2593271-AT-TG |
c.712_713delinsTG |
p.Met238Trp |
Missense |
5/16 |
- |
3 |
11-2593274-C-G |
c.715C>G |
p.Leu239Val |
Missense |
5/16 |
- |
1 |
11-2593274-CTA-TGG |
c.715_717delinsTGG |
p.Leu239Trp |
Missense |
5/16 |
- |
3 |
11-2593275-T-C |
c.716T>C |
p.Leu239Pro |
Missense |
5/16 |
- |
3 |
11-2593277-CAC-GAG |
c.718_720delinsGAG |
p.His240Glu |
Missense |
5/16 |
- |
1 |
11-2593277-CAC-TGG |
c.718_720delinsTGG |
p.His240Trp |
Missense |
5/16 |
- |
1 |
11-2593278-A-G |
c.719A>G |
p.His240Arg |
Missense |
5/16 |
- |
5 |
11-2593280-G-T |
c.721G>T |
p.Val241Phe |
Missense |
5/16 |
- |
6 |
11-2593280-G-A |
c.721G>A |
p.Val241Ile |
Missense |
5/16 |
- |
1 |
11-2593280-GTC-ATG |
c.721_723delinsATG |
p.Val241Met |
Missense |
5/16 |
- |
1 |
11-2593280-GTC-TGG |
c.721_723delinsTGG |
p.Val241Trp |
Missense |
5/16 |
- |
2 |
11-2593281-T-G |
c.722T>G |
p.Val241Gly |
Missense |
5/16 |
- |
1 |
11-2593281-T-C |
c.722T>C |
p.Val241Ala |
Missense |
5/16 |
- |
1 |
11-2593283-GAC-TGG |
c.724_726delinsTGG |
p.Asp242Trp |
Missense |
5/16 |
- |
3 |
11-2593283-G-T |
c.724G>T |
p.Asp242Tyr |
Missense |
5/16 |
- |
1 |
11-2593283-G-A |
c.724G>A |
p.Asp242Asn |
Missense |
5/16 |
- |
5 |
11-2593284-A-C |
c.725A>C |
p.Asp242Ala |
Missense |
5/16 |
- |
3 |
11-2593286-CGC-TGG |
c.727_729delinsTGG |
p.Arg243Trp |
Missense |
5/16 |
- |
5 |
11-2593286-CG-GC |
c.727_728delinsGC |
p.Arg243Ala |
Missense |
5/16 |
- |
6 |
11-2593286-C-T |
c.727C>T |
p.Arg243Cys |
Missense |
5/16 |
- |
19 |
11-2593287-GC-AA |
c.728_729delinsAA |
p.Arg243Gln |
Missense |
5/16 |
- |
4 |
11-2593287-G-C |
c.728G>C |
p.Arg243Pro |
Missense |
5/16 |
- |
2 |
11-2593287-G-A |
c.728G>A |
p.Arg243His |
Missense |
5/16 |
- |
15 |
11-2593289-CA-TG |
c.730_731inv |
p.Gln244Trp |
Missense |
5/16 |
- |
3 |
11-2593289-CAG-TGT |
c.730_732delinsTGT |
p.Gln244Cys |
Missense |
5/16 |
- |
1 |
11-2593290-A-G |
c.731A>G |
p.Gln244Arg |
Missense |
5/16 |
- |
2 |
11-2593292-G-C |
c.733G>C |
p.Gly245Arg |
Missense |
5/16 |
- |
1 |
11-2593292-G-A |
c.733G>A |
p.Gly245Arg |
Missense |
5/16 |
- |
1 |
11-2593292-GGG-G |
c.733_734del |
p.Gly245Argfs*39 |
Frameshift |
5/16 |
- |
2 |
11-2593293-G-T |
c.734G>T |
p.Gly245Val |
Missense |
5/16 |
- |
2 |
11-2593293-G-C |
c.734G>C |
p.Gly245Ala |
Missense |
5/16 |
- |
1 |
11-2593296-G-C |
c.737G>C |
p.Gly246Ala |
Missense |
5/16 |
- |
1 |
11-2593298-A-G |
c.739A>G |
p.Thr247Ala |
Missense |
5/16 |
- |
4 |
11-2593299-CC-TG |
c.740_741delinsTG |
p.Thr247Met |
Missense |
5/16 |
- |
1 |
11-2593301-T-A |
c.742T>A |
p.Trp248Arg |
Missense |
5/16 |
- |
4 |
11-2593301-TG-GC |
c.742_743delinsGC |
p.Trp248Ala |
Missense |
5/16 |
- |
2 |
11-2593301-T-C |
c.742T>C |
p.Trp248Arg |
Missense |
5/16 |
- |
4 |
11-2593302-GG-TT |
c.743_744delinsTT |
p.Trp248Phe |
Missense |
5/16 |
- |
3 |
11-2593303-G-T |
c.744G>T |
p.Trp248Cys |
Missense |
5/16 |
- |
1 |
11-2593303-G-C |
c.744G>C |
p.Trp248Cys |
Missense |
5/16 |
- |
1 |
11-2593304-AG-CA |
c.745_746delinsCA |
p.Arg249Gln |
Missense |
5/16 |
- |
3 |
11-2593304-AG-GA |
c.745_746delinsGA |
p.Arg249Glu |
Missense |
5/16 |
- |
2 |
11-2593304-AG-GC |
c.745_746delinsGC |
p.Arg249Ala |
Missense |
5/16 |
- |
4 |
11-2593304-AGG-TGT |
c.745_747delinsTGT |
p.Arg249Cys |
Missense |
5/16 |
- |
1 |
11-2593307-CT-GC |
c.748_749delinsGC |
p.Leu250Ala |
Missense |
5/16 |
- |
3 |
11-2593307-CTC-AAG |
c.748_750delinsAAG |
p.Leu250Lys |
Missense |
5/16 |
- |
1 |
11-2593308-T-A |
c.749T>A |
p.Leu250His |
Missense |
5/16 |
- |
3 |
11-2593310-CT-GC |
c.751_752delinsGC |
p.Leu251Ala |
Missense |
5/16 |
- |
7 |
11-2593311-T-C |
c.752T>C |
p.Leu251Pro |
Missense |
5/16 |
- |
3 |
11-2593311-T-A |
c.752T>A |
p.Leu251Gln |
Missense |
5/16 |
- |
1 |
11-2593313-GGC-TGG |
c.754_756delinsTGG |
p.Gly252Trp |
Missense |
5/16 |
- |
1 |
11-2593314-G-A |
c.755G>A |
p.Gly252Asp |
Missense |
5/16 |
- |
1 |
11-2593314-G-C |
c.755G>C |
p.Gly252Ala |
Missense |
5/16 |
- |
2 |
11-2593316-T-G |
c.757T>G |
p.Ser253Ala |
Missense |
5/16 |
- |
2 |
11-2593317-CC-GG |
c.758_759inv |
p.Ser253Trp |
Missense |
5/16 |
- |
1 |
11-2593317-C-G |
c.758C>G |
p.Ser253Cys |
Missense |
5/16 |
- |
2 |
11-2593319-GT-AA |
c.760_761delinsAA |
p.Val254Lys |
Missense |
5/16 |
- |
1 |
11-2593319-GT-TG |
c.760_761delinsTG |
p.Val254Trp |
Missense |
5/16 |
- |
1 |
11-2593319-G-C |
c.760G>C |
p.Val254Leu |
Missense |
5/16 |
- |
8 |
11-2593319-G-T |
c.760G>T |
p.Val254Leu |
Missense |
5/16 |
- |
8 |
11-2593319-GTG-TGT |
c.760_762delinsTGT |
p.Val254Cys |
Missense |
5/16 |
- |
1 |
11-2593319-G-A |
c.760G>A |
p.Val254Met |
Missense |
5/16 |
- |
20 |
11-2593320-T-A |
c.761T>A |
p.Val254Glu |
Missense |
5/16 |
- |
1 |
11-2593320-T-C |
c.761T>C |
p.Val254Ala |
Missense |
5/16 |
- |
7 |
11-2593322-GTC-TGG |
c.763_765delinsTGG |
p.Val255Trp |
Missense |
5/16 |
- |
3 |
11-2593323-T-C |
c.764T>C |
p.Val255Ala |
Missense |
5/16 |
- |
2 |
11-2593325-TT-GC |
c.766_767delinsGC |
p.Phe256Ala |
Missense |
5/16 |
- |
2 |
11-2593326-T-A |
c.767T>A |
p.Phe256Tyr |
Missense |
5/16 |
- |
1 |
11-2593328-AT-GC |
c.769_770delinsGC |
p.Ile257Ala |
Missense |
5/16 |
- |
3 |
11-2593328-AT-TG |
c.769_770delinsTG |
p.Ile257Cys |
Missense |
5/16 |
- |
1 |
11-2593331-CAC-TGG |
c.772_774delinsTGG |
p.His258Trp |
Missense |
5/16 |
- |
1 |
11-2593331-CAC-AAG |
c.772_774delinsAAG |
p.His258Lys |
Missense |
5/16 |
- |
1 |
11-2593331-CA-GC |
c.772_773delinsGC |
p.His258Ala |
Missense |
5/16 |
- |
4 |
11-2593331-C-A |
c.772C>A |
p.His258Asn |
Missense |
5/16 |
- |
2 |
11-2593332-A-C |
c.773A>C |
p.His258Pro |
Missense |
5/16 |
- |
2 |
11-2593332-A-G |
c.773A>G |
p.His258Arg |
Missense |
5/16 |
- |
3 |
11-2593334-CG-GC |
c.775_776delinsGC |
p.Arg259Ala |
Missense |
5/16 |
- |
5 |
11-2593334-C-T |
c.775C>T |
p.Arg259Cys |
Missense |
5/16 |
- |
6 |
11-2593335-GC-AA |
c.776_777delinsAA |
p.Arg259Gln |
Missense |
5/16 |
- |
1 |
11-2593335-G-T |
c.776G>T |
p.Arg259Leu |
Missense |
5/16 |
- |
4 |
11-2593335-G-A |
c.776G>A |
p.Arg259His |
Missense |
5/16 |
- |
10 |
11-2593337-CA-GC |
c.778_779delinsGC |
p.Gln260Ala |
Missense |
5/16 |
- |
2 |
11-2593416-A-G |
c.780+77A>G |
- |
IntronicSNV |
- |
5/15 |
2 |
11-2594076-G-T |
c.781G>T |
p.Glu261* |
Nonsense |
6/16 |
- |
1 |
11-2594076-G-C |
c.781G>C |
p.Glu261Gln |
Missense |
6/16 |
- |
2 |
11-2594076-G-A |
c.781G>A |
p.Glu261Lys |
Missense |
6/16 |
- |
6 |
11-2594076-GA-TC |
c.781_782inv |
p.Glu261Ser |
SpliceAcceptorBlockSubstitution |
6/16 |
- |
1 |
11-2594077-A-T |
c.782A>T |
p.Glu261Val |
Missense |
6/16 |
- |
2 |
11-2594077-A-C |
c.782A>C |
p.Glu261Ala |
Missense |
6/16 |
- |
4 |
11-2594078-G-C |
c.783G>C |
p.Glu261Asp |
Missense |
6/16 |
- |
4 |
11-2594078-G-T |
c.783G>T |
p.Glu261Asp |
Missense |
6/16 |
- |
4 |
11-2594079-CT-GC |
c.784_785delinsGC |
p.Leu262Ala |
Missense |
6/16 |
- |
2 |
11-2594079-C-G |
c.784C>G |
p.Leu262Val |
Missense |
6/16 |
- |
1 |
11-2594080-T-C |
c.785T>C |
p.Leu262Pro |
Missense |
6/16 |
- |
1 |
11-2594082-AT-GC |
c.787_788delinsGC |
p.Ile263Ala |
Missense |
6/16 |
- |
1 |
11-2594085-A-G |
c.790A>G |
p.Thr264Ala |
Missense |
6/16 |
- |
1 |
11-2594088-A-G |
c.793A>G |
p.Thr265Ala |
Missense |
6/16 |
- |
2 |
11-2594089-C-T |
c.794C>T |
p.Thr265Ile |
Missense |
6/16 |
- |
3 |
11-2594091-CC-C |
c.796del |
p.Leu266Cysfs*23 |
Frameshift |
6/16 |
- |
1 |
11-2594091-CT-GC |
c.796_797delinsGC |
p.Leu266Ala |
Missense |
6/16 |
- |
1 |
11-2594091-CT-TG |
c.796_797delinsTG |
p.Leu266Trp |
Missense |
6/16 |
- |
3 |
11-2594092-T-C |
c.797T>C |
p.Leu266Pro |
Missense |
6/16 |
- |
6 |
11-2594094-TA-GC |
c.799_800delinsGC |
p.Tyr267Ala |
Missense |
6/16 |
- |
1 |
11-2594097-AT-GC |
c.802_803delinsGC |
p.Ile268Ala |
Missense |
6/16 |
- |
5 |
11-2594098-T-G |
c.803T>G |
p.Ile268Ser |
Missense |
6/16 |
- |
1 |
11-2594100-G-A |
c.805G>A |
p.Gly269Ser |
Missense |
6/16 |
- |
25 |
11-2594101-G-A |
c.806G>A |
p.Gly269Asp |
Missense |
6/16 |
- |
6 |
11-2594101-G-C |
c.806G>C |
p.Gly269Ala |
Missense |
6/16 |
- |
1 |
11-2594103-TT-GC |
c.808_809delinsGC |
p.Phe270Ala |
Missense |
6/16 |
- |
2 |
11-2594106-CT-GC |
c.811_812delinsGC |
p.Leu271Ala |
Missense |
6/16 |
- |
1 |
11-2594109-G-A |
c.814G>A |
p.Gly272Ser |
Missense |
6/16 |
- |
1 |
11-2594109-G-T |
c.814G>T |
p.Gly272Cys |
Missense |
6/16 |
- |
1 |
11-2594110-G-T |
c.815G>T |
p.Gly272Val |
Missense |
6/16 |
- |
2 |
11-2594110-G-A |
c.815G>A |
p.Gly272Asp |
Missense |
6/16 |
- |
3 |
11-2594110-G-C |
c.815G>C |
p.Gly272Ala |
Missense |
6/16 |
- |
2 |
11-2594112-CT-GC |
c.817_818delinsGC |
p.Leu273Ala |
Missense |
6/16 |
- |
3 |
11-2594112-C-G |
c.817C>G |
p.Leu273Val |
Missense |
6/16 |
- |
1 |
11-2594112-C-A |
c.817C>A |
p.Leu273Ile |
Missense |
6/16 |
- |
1 |
11-2594112-C-T |
c.817C>T |
p.Leu273Phe |
Missense |
6/16 |
- |
16 |
11-2594112-CTC-TGG |
c.817_819delinsTGG |
p.Leu273Trp |
Missense |
6/16 |
- |
1 |
11-2594113-T-G |
c.818T>G |
p.Leu273Arg |
Missense |
6/16 |
- |
2 |
11-2594113-TC-AA |
c.818_819delinsAA |
p.Leu273Gln |
Missense |
6/16 |
- |
2 |
11-2594115-A-G |
c.820A>G |
p.Ile274Val |
Missense |
6/16 |
- |
11 |
11-2594115-AT-GC |
c.820_821delinsGC |
p.Ile274Ala |
Missense |
6/16 |
- |
2 |
11-2594118-TTC-CAA |
c.823_825delinsCAA |
p.Phe275Gln |
Missense |
6/16 |
- |
1 |
11-2594118-TT-GC |
c.823_824delinsGC |
p.Phe275Ala |
Missense |
6/16 |
- |
3 |
11-2594119-T-C |
c.824T>C |
p.Phe275Ser |
Missense |
6/16 |
- |
5 |
11-2594119-TTCT-T |
c.824_826del |
p.Phe275del |
InFrameDeletion |
6/16 |
- |
1 |
11-2594121-CT-C |
c.826del |
p.Ser276Profs*13 |
Frameshift |
6/16 |
- |
1 |
11-2594121-T-G |
c.826T>G |
p.Ser276Ala |
Missense |
6/16 |
- |
1 |
11-2594123-CCTC-C |
c.828_830del |
p.Ser277del |
InFrameDeletion |
6/16 |
- |
3 |
11-2594124-T-C |
c.829T>C |
p.Ser277Pro |
Missense |
6/16 |
- |
2 |
11-2594124-T-G |
c.829T>G |
p.Ser277Ala |
Missense |
6/16 |
- |
1 |
11-2594125-C-T |
c.830C>T |
p.Ser277Leu |
Missense |
6/16 |
- |
6 |
11-2594125-C-G |
c.830C>G |
p.Ser277Trp |
Missense |
6/16 |
- |
4 |
11-2594127-TA-GC |
c.832_833delinsGC |
p.Tyr278Ala |
Missense |
6/16 |
- |
1 |
11-2594127-T-C |
c.832T>C |
p.Tyr278His |
Missense |
6/16 |
- |
3 |
11-2594130-T-A |
c.835T>A |
p.Phe279Ile |
Missense |
6/16 |
- |
8 |
11-2594130-TT-GC |
c.835_836delinsGC |
p.Phe279Ala |
Missense |
6/16 |
- |
3 |
11-2594134-T-C |
c.839T>C |
p.Val280Ala |
Missense |
6/16 |
- |
2 |
11-2594134-T-A |
c.839T>A |
p.Val280Glu |
Missense |
6/16 |
- |
2 |
11-2594136-TA-GC |
c.841_842delinsGC |
p.Tyr281Ala |
Missense |
6/16 |
- |
1 |
11-2594137-A-G |
c.842A>G |
p.Tyr281Cys |
Missense |
6/16 |
- |
5 |
11-2594139-CT-GC |
c.844_845delinsGC |
p.Leu282Ala |
Missense |
6/16 |
- |
1 |
11-2594140-T-C |
c.845T>C |
p.Leu282Pro |
Missense |
6/16 |
- |
1 |
11-2594142-GC-TG |
c.847_848delinsTG |
p.Ala283Cys |
Missense |
6/16 |
- |
1 |
11-2594142-G-A |
c.847G>A |
p.Ala283Thr |
Missense |
6/16 |
- |
2 |
11-2594145-GAG-TGT |
c.850_852delinsTGT |
p.Glu284Cys |
Missense |
6/16 |
- |
3 |
11-2594145-G-A |
c.850G>A |
p.Glu284Lys |
Missense |
6/16 |
- |
2 |
11-2594146-A-C |
c.851A>C |
p.Glu284Ala |
Missense |
6/16 |
- |
1 |
11-2594148-AA-GC |
c.853_854delinsGC |
p.Lys285Ala |
Missense |
6/16 |
- |
1 |
11-2594151-GA-TG |
c.856_857delinsTG |
p.Asp286Cys |
Missense |
6/16 |
- |
3 |
11-2594152-A-C |
c.857A>C |
p.Asp286Ala |
Missense |
6/16 |
- |
1 |
11-2594154-GC-CA |
c.859_860delinsCA |
p.Ala287Gln |
Missense |
6/16 |
- |
1 |
11-2594154-GC-AA |
c.859_860delinsAA |
p.Ala287Lys |
Missense |
6/16 |
- |
1 |
11-2594154-GCG-TGT |
c.859_861delinsTGT |
p.Ala287Cys |
Missense |
6/16 |
- |
1 |
11-2594154-G-A |
c.859G>A |
p.Ala287Thr |
Missense |
6/16 |
- |
1 |
11-2594154-G-T |
c.859G>T |
p.Ala287Ser |
Missense |
6/16 |
- |
1 |
11-2594155-CG-AC |
c.860_861delinsAC |
p.Ala287Asp |
Missense |
6/16 |
- |
1 |
11-2594155-C-A |
c.860C>A |
p.Ala287Glu |
Missense |
6/16 |
- |
2 |
11-2594158-T-C |
c.863T>C |
p.Val288Ala |
Missense |
6/16 |
- |
1 |
11-2594160-AA-GC |
c.865_866delinsGC |
p.Asn289Ala |
Missense |
6/16 |
- |
1 |
11-2594160-AAC-GAG |
c.865_867delinsGAG |
p.Asn289Glu |
Missense |
6/16 |
- |
1 |
11-2594163-GAG-TGT |
c.868_870delinsTGT |
p.Glu290Cys |
Missense |
6/16 |
- |
3 |
11-2594163-G-A |
c.868G>A |
p.Glu290Lys |
Missense |
6/16 |
- |
2 |
11-2594163-GA-AG |
c.868_869delinsAG |
p.Glu290Arg |
Missense |
6/16 |
- |
1 |
11-2594164-A-C |
c.869A>C |
p.Glu290Ala |
Missense |
6/16 |
- |
3 |
11-2594166-T-G |
c.871T>G |
p.Ser291Ala |
Missense |
6/16 |
- |
1 |
11-2594168-A-C |
c.873A>C |
p.Ser291Ser |
Synonymous |
6/16 |
- |
1 |
11-2594168-A-G |
c.873A>G |
p.Ser291Ser |
Synonymous |
6/16 |
- |
1 |
11-2594168-A-T |
c.873A>T |
p.Ser291Ser |
Synonymous |
6/16 |
- |
1 |
11-2594169-G-T |
c.874G>T |
p.Gly292Cys |
Missense |
6/16 |
- |
1 |
11-2594170-G-A |
c.875G>A |
p.Gly292Asp |
Missense |
6/16 |
- |
3 |
11-2594170-G-C |
c.875G>C |
p.Gly292Ala |
Missense |
6/16 |
- |
1 |
11-2594172-CG-GC |
c.877_878delinsGC |
p.Arg293Ala |
Missense |
6/16 |
- |
1 |
11-2594172-C-T |
c.877C>T |
p.Arg293Cys |
Missense |
6/16 |
- |
5 |
11-2594176-T-C |
c.881T>C |
p.Val294Ala |
Missense |
6/16 |
- |
1 |
11-2594178-GAG-TGT |
c.883_885delinsTGT |
p.Glu295Cys |
Missense |
6/16 |
- |
3 |
11-2594179-A-C |
c.884A>C |
p.Glu295Ala |
Missense |
6/16 |
- |
2 |
11-2594181-TT-GC |
c.886_887delinsGC |
p.Phe296Ala |
Missense |
6/16 |
- |
1 |
11-2594182-T-C |
c.887T>C |
p.Phe296Ser |
Missense |
6/16 |
- |
3 |
11-2594184-G-T |
c.889G>T |
p.Gly297Cys |
Missense |
6/16 |
- |
1 |
11-2594184-G-A |
c.889G>A |
p.Gly297Ser |
Missense |
6/16 |
- |
1 |
11-2594185-G-C |
c.890G>C |
p.Gly297Ala |
Missense |
6/16 |
- |
1 |
11-2594187-AG-GC |
c.892_893delinsGC |
p.Ser298Ala |
Missense |
6/16 |
- |
1 |
11-2594187-A-T |
c.892A>T |
p.Ser298Cys |
Missense |
6/16 |
- |
1 |
11-2594190-TA-GC |
c.895_896delinsGC |
p.Tyr299Ala |
Missense |
6/16 |
- |
1 |
11-2594191-A-G |
c.896A>G |
p.Tyr299Cys |
Missense |
6/16 |
- |
1 |
11-2594193-G-A |
c.898G>A |
p.Ala300Thr |
Missense |
6/16 |
- |
9 |
11-2594193-G-T |
c.898G>T |
p.Ala300Ser |
Missense |
6/16 |
- |
1 |
11-2594193-GCA-TGT |
c.898_900delinsTGT |
p.Ala300Cys |
Missense |
6/16 |
- |
1 |
11-2594196-GA-TG |
c.901_902delinsTG |
p.Asp301Cys |
Missense |
6/16 |
- |
2 |
11-2594197-A-C |
c.902A>C |
p.Asp301Ala |
Missense |
6/16 |
- |
1 |
11-2594199-G-A |
c.904G>A |
p.Ala302Thr |
Missense |
6/16 |
- |
3 |
11-2594200-C-T |
c.905C>T |
p.Ala302Val |
Missense |
6/16 |
- |
7 |
11-2594202-CT-GC |
c.907_908delinsGC |
p.Leu303Ala |
Missense |
6/16 |
- |
1 |
11-2594203-T-C |
c.908T>C |
p.Leu303Pro |
Missense |
6/16 |
- |
2 |
11-2594205-T-A |
c.910T>A |
p.Trp304Arg |
Missense |
6/16 |
- |
2 |
11-2594205-T-C |
c.910T>C |
p.Trp304Arg |
Missense |
6/16 |
- |
2 |
11-2594205-TG-GC |
c.910_911delinsGC |
p.Trp304Ala |
Missense |
6/16 |
- |
1 |
11-2594208-T-C |
c.913T>C |
p.Trp305Arg |
Missense |
6/16 |
- |
1 |
11-2594208-TG-GC |
c.913_914delinsGC |
p.Trp305Ala |
Missense |
6/16 |
- |
1 |
11-2594208-T-A |
c.913T>A |
p.Trp305Arg |
Missense |
6/16 |
- |
1 |
11-2594210-G-A |
c.915G>A |
p.Trp305* |
Nonsense |
6/16 |
- |
4 |
11-2594209-G-C |
c.914G>C |
p.Trp305Ser |
Missense |
6/16 |
- |
6 |
11-2594209-G-A |
c.914G>A |
p.Trp305* |
Nonsense |
6/16 |
- |
4 |
11-2594209-G-T |
c.914G>T |
p.Trp305Leu |
Missense |
6/16 |
- |
2 |
11-2594211-G-A |
c.916G>A |
p.Gly306Arg |
Missense |
6/16 |
- |
8 |
11-2594211-G-C |
c.916G>C |
p.Gly306Arg |
Missense |
6/16 |
- |
8 |
11-2594212-G-C |
c.917G>C |
p.Gly306Ala |
Missense |
6/16 |
- |
1 |
11-2594212-G-T |
c.917G>T |
p.Gly306Val |
Missense |
6/16 |
- |
4 |
11-2594214-GG-G |
c.919del |
p.Val307Trpfs*47 |
Frameshift |
6/16 |
- |
1 |
11-2594214-GTG-ATC |
c.919_921delinsATC |
p.Val307Ile |
Missense |
6/16 |
- |
1 |
11-2594214-GTG-TGT |
c.919_921delinsTGT |
p.Val307Cys |
Missense |
6/16 |
- |
1 |
11-2594214-G-C |
c.919G>C |
p.Val307Leu |
Missense |
6/16 |
- |
23 |
11-2594214-GT-TC |
c.919_920delinsTC |
p.Val307Ser |
Missense |
6/16 |
- |
1 |
11-2594215-T-C |
c.920T>C |
p.Val307Ala |
Missense |
6/16 |
- |
2 |
11-2594216-G-A |
c.921G>A |
p.Val307Val |
Synonymous |
6/16 |
- |
1 |
11-2595287-A-G |
c.921+1071A>G |
- |
IntronicSNV |
- |
6/15 |
1 |
11-2597325-A-G |
c.921+3109A>G |
- |
IntronicSNV |
- |
6/15 |
1 |
11-2598864-G-A |
c.921+4648G>A |
- |
IntronicSNV |
- |
6/15 |
1 |
11-2602308-CCCCCAAAAAATCTGGATTAGACAGACTCTGGAGCCCTCTTGCTCCAGGTTGCAGGGGCC-C |
c.922-2356_922-2298del |
- |
Unclassified |
- |
6/15 |
1 |
11-2604666-T-A |
c.923T>A |
p.Val308Asp |
Missense |
7/16 |
- |
1 |
11-2604666-T-C |
c.923T>C |
p.Val308Ala |
Missense |
7/16 |
- |
1 |
11-2604668-A-T |
c.925A>T |
p.Thr309Ser |
Missense |
7/16 |
- |
1 |
11-2604668-A-G |
c.925A>G |
p.Thr309Ala |
Missense |
7/16 |
- |
1 |
11-2604669-C-T |
c.926C>T |
p.Thr309Ile |
Missense |
7/16 |
- |
1 |
11-2604669-C-G |
c.926C>G |
p.Thr309Arg |
Missense |
7/16 |
- |
1 |
11-2604671-G-C |
c.928G>C |
p.Val310Leu |
Missense |
7/16 |
- |
1 |
11-2604671-G-A |
c.928G>A |
p.Val310Ile |
Missense |
7/16 |
- |
5 |
11-2604672-T-C |
c.929T>C |
p.Val310Ala |
Missense |
7/16 |
- |
4 |
11-2604672-T-G |
c.929T>G |
p.Val310Gly |
Missense |
7/16 |
- |
3 |
11-2604674-A-G |
c.931A>G |
p.Thr311Ala |
Missense |
7/16 |
- |
4 |
11-2604675-C-T |
c.932C>T |
p.Thr311Ile |
Missense |
7/16 |
- |
8 |
11-2604675-C-G |
c.932C>G |
p.Thr311Ser |
Missense |
7/16 |
- |
1 |
11-2604674-A-T |
c.931A>T |
p.Thr311Ser |
Missense |
7/16 |
- |
1 |
11-2604677-A-G |
c.934A>G |
p.Thr312Ala |
Missense |
7/16 |
- |
1 |
11-2604678-C-G |
c.935C>G |
p.Thr312Ser |
Missense |
7/16 |
- |
2 |
11-2604678-C-T |
c.935C>T |
p.Thr312Ile |
Missense |
7/16 |
- |
7 |
11-2604677-A-T |
c.934A>T |
p.Thr312Ser |
Missense |
7/16 |
- |
2 |
11-2604680-AT-GC |
c.937_938delinsGC |
p.Ile313Ala |
Missense |
7/16 |
- |
1 |
11-2604680-A-G |
c.937A>G |
p.Ile313Val |
Missense |
7/16 |
- |
1 |
11-2604682-C-G |
c.939C>G |
p.Ile313Met |
Missense |
7/16 |
- |
1 |
11-2604683-GG-TT |
c.940_941delinsTT |
p.Gly314Phe |
Missense |
7/16 |
- |
1 |
11-2604683-G-A |
c.940G>A |
p.Gly314Ser |
Missense |
7/16 |
- |
17 |
11-2604683-G-T |
c.940G>T |
p.Gly314Cys |
Missense |
7/16 |
- |
3 |
11-2604683-G-C |
c.940G>C |
p.Gly314Arg |
Missense |
7/16 |
- |
1 |
11-2604684-G-C |
c.941G>C |
p.Gly314Ala |
Missense |
7/16 |
- |
2 |
11-2604684-G-A |
c.941G>A |
p.Gly314Asp |
Missense |
7/16 |
- |
3 |
11-2604686-T-C |
c.943T>C |
p.Tyr315His |
Missense |
7/16 |
- |
2 |
11-2604686-T-A |
c.943T>A |
p.Tyr315Asn |
Missense |
7/16 |
- |
2 |
11-2604686-TA-GC |
c.943_944delinsGC |
p.Tyr315Ala |
Missense |
7/16 |
- |
1 |
11-2604687-A-T |
c.944A>T |
p.Tyr315Phe |
Missense |
7/16 |
- |
1 |
11-2604687-A-C |
c.944A>C |
p.Tyr315Ser |
Missense |
7/16 |
- |
19 |
11-2604687-A-G |
c.944A>G |
p.Tyr315Cys |
Missense |
7/16 |
- |
12 |
11-2604689-G-C |
c.946G>C |
p.Gly316Arg |
Missense |
7/16 |
- |
1 |
11-2604689-G-A |
c.946G>A |
p.Gly316Arg |
Missense |
7/16 |
- |
1 |
11-2604690-G-T |
c.947G>T |
p.Gly316Val |
Missense |
7/16 |
- |
1 |
11-2604690-G-A |
c.947G>A |
p.Gly316Glu |
Missense |
7/16 |
- |
2 |
11-2604690-G-C |
c.947G>C |
p.Gly316Ala |
Missense |
7/16 |
- |
1 |
11-2604692-G-A |
c.949G>A |
p.Asp317Asn |
Missense |
7/16 |
- |
6 |
11-2604692-G-T |
c.949G>T |
p.Asp317Tyr |
Missense |
7/16 |
- |
1 |
11-2604693-A-G |
c.950A>G |
p.Asp317Gly |
Missense |
7/16 |
- |
2 |
11-2604693-A-C |
c.950A>C |
p.Asp317Ala |
Missense |
7/16 |
- |
2 |
11-2604695-AA-GC |
c.952_953delinsGC |
p.Lys318Ala |
Missense |
7/16 |
- |
1 |
11-2604696-AG-TC |
c.953_954delinsTC |
p.Lys318Ile |
Missense |
7/16 |
- |
2 |
11-2604697-G-T |
c.954G>T |
p.Lys318Asn |
Missense |
7/16 |
- |
2 |
11-2604697-G-C |
c.954G>C |
p.Lys318Asn |
Missense |
7/16 |
- |
2 |
11-2604698-GT-AC |
c.955_956inv |
p.Val319Thr |
Missense |
7/16 |
- |
1 |
11-2604698-G-T |
c.955G>T |
p.Val319Leu |
Missense |
7/16 |
- |
1 |
11-2604698-G-C |
c.955G>C |
p.Val319Leu |
Missense |
7/16 |
- |
1 |
11-2604698-GTG-TAT |
c.955_957delinsTAT |
p.Val319Tyr |
Missense |
7/16 |
- |
4 |
11-2604698-GTG-TGT |
c.955_957delinsTGT |
p.Val319Cys |
Missense |
7/16 |
- |
2 |
11-2604699-T-C |
c.956T>C |
p.Val319Ala |
Missense |
7/16 |
- |
1 |
11-2604701-C-T |
c.958C>T |
p.Pro320Ser |
Missense |
7/16 |
- |
1 |
11-2604701-C-G |
c.958C>G |
p.Pro320Ala |
Missense |
7/16 |
- |
4 |
11-2604702-C-A |
c.959C>A |
p.Pro320His |
Missense |
7/16 |
- |
4 |
11-2604704-CA-GC |
c.961_962delinsGC |
p.Gln321Ala |
Missense |
7/16 |
- |
1 |
11-2604707-A-G |
c.964A>G |
p.Thr322Ala |
Missense |
7/16 |
- |
7 |
11-2604708-C-A |
c.965C>A |
p.Thr322Lys |
Missense |
7/16 |
- |
1 |
11-2604708-C-T |
c.965C>T |
p.Thr322Met |
Missense |
7/16 |
- |
11 |
11-2604710-TG-GC |
c.967_968delinsGC |
p.Trp323Ala |
Missense |
7/16 |
- |
1 |
11-2604712-G-A |
c.969G>A |
p.Trp323* |
Nonsense |
7/16 |
- |
2 |
11-2604712-G-T |
c.969G>T |
p.Trp323Cys |
Missense |
7/16 |
- |
1 |
11-2604712-G-C |
c.969G>C |
p.Trp323Cys |
Missense |
7/16 |
- |
1 |
11-2604713-GT-TG |
c.970_971delinsTG |
p.Val324Cys |
Missense |
7/16 |
- |
3 |
11-2604713-G-C |
c.970G>C |
p.Val324Leu |
Missense |
7/16 |
- |
2 |
11-2604714-T-C |
c.971T>C |
p.Val324Ala |
Missense |
7/16 |
- |
2 |
11-2604716-G-T |
c.973G>T |
p.Gly325Trp |
Missense |
7/16 |
- |
2 |
11-2604716-G-A |
c.973G>A |
p.Gly325Arg |
Missense |
7/16 |
- |
9 |
11-2604717-G-C |
c.974G>C |
p.Gly325Ala |
Missense |
7/16 |
- |
1 |
11-2604717-G-A |
c.974G>A |
p.Gly325Glu |
Missense |
7/16 |
- |
1 |
11-2604719-AAG-TGT |
c.976_978delinsTGT |
p.Lys326Cys |
Missense |
7/16 |
- |
1 |
11-2604719-AA-GC |
c.976_977delinsGC |
p.Lys326Ala |
Missense |
7/16 |
- |
1 |
11-2604719-A-C |
c.976A>C |
p.Lys326Gln |
Missense |
7/16 |
- |
2 |
11-2604719-A-G |
c.976A>G |
p.Lys326Glu |
Missense |
7/16 |
- |
1 |
11-2604720-A-G |
c.977A>G |
p.Lys326Arg |
Missense |
7/16 |
- |
2 |
11-2604722-AC-GT |
c.979_980inv |
p.Thr327Val |
Missense |
7/16 |
- |
2 |
11-2604722-A-G |
c.979A>G |
p.Thr327Ala |
Missense |
7/16 |
- |
1 |
11-2604725-AT-GC |
c.982_983delinsGC |
p.Ile328Ala |
Missense |
7/16 |
- |
1 |
11-2604725-A-C |
c.982A>C |
p.Ile328Leu |
Missense |
7/16 |
- |
1 |
11-2604731-T-G |
c.988T>G |
p.Ser330Ala |
Missense |
7/16 |
- |
1 |
11-2604732-TCCT-T |
c.989_991del |
p.Ser330del |
InFrameDeletion |
7/16 |
- |
1 |
11-2604734-TG-GC |
c.991_992delinsGC |
p.Cys331Ala |
Missense |
7/16 |
- |
15 |
11-2604734-T-A |
c.991T>A |
p.Cys331Ser |
Missense |
7/16 |
- |
2 |
11-2604735-G-C |
c.992G>C |
p.Cys331Ser |
Missense |
7/16 |
- |
2 |
11-2604737-TT-GC |
c.994_995delinsGC |
p.Phe332Ala |
Missense |
7/16 |
- |
6 |
11-2604740-T-G |
c.997T>G |
p.Ser333Ala |
Missense |
7/16 |
- |
1 |
11-2604743-G-A |
c.1000G>A |
p.Val334Ile |
Missense |
7/16 |
- |
1 |
11-2604744-T-C |
c.1001T>C |
p.Val334Ala |
Missense |
7/16 |
- |
2 |
11-2604746-T-C |
c.1003T>C |
p.Phe335Leu |
Missense |
7/16 |
- |
1 |
11-2604748-T-A |
c.1005T>A |
p.Phe335Leu |
Missense |
7/16 |
- |
1 |
11-2604748-T-G |
c.1005T>G |
p.Phe335Leu |
Missense |
7/16 |
- |
1 |
11-2604746-TT-GC |
c.1003_1004delinsGC |
p.Phe335Ala |
Missense |
7/16 |
- |
4 |
11-2604749-GC-TG |
c.1006_1007delinsTG |
p.Ala336Cys |
Missense |
7/16 |
- |
2 |
11-2604751-C-G |
c.1008C>G |
p.Ala336Ala |
Synonymous |
7/16 |
- |
1 |
11-2604751-C-T |
c.1008C>T |
p.Ala336Ala |
Synonymous |
7/16 |
- |
1 |
11-2604751-C-A |
c.1008C>A |
p.Ala336Ala |
Synonymous |
7/16 |
- |
1 |
11-2604752-A-G |
c.1009A>G |
p.Ile337Val |
Missense |
7/16 |
- |
2 |
11-2604752-AT-GC |
c.1009_1010delinsGC |
p.Ile337Ala |
Missense |
7/16 |
- |
3 |
11-2604755-T-G |
c.1012T>G |
p.Ser338Ala |
Missense |
7/16 |
- |
4 |
11-2604755-T-A |
c.1012T>A |
p.Ser338Thr |
Missense |
7/16 |
- |
1 |
11-2604756-CC-GG |
c.1013_1014inv |
p.Ser338Trp |
Missense |
7/16 |
- |
4 |
11-2604756-C-T |
c.1013C>T |
p.Ser338Phe |
Missense |
7/16 |
- |
7 |
11-2604756-C-G |
c.1013C>G |
p.Ser338Cys |
Missense |
7/16 |
- |
2 |
11-2604758-TT-GC |
c.1015_1016delinsGC |
p.Phe339Ala |
Missense |
7/16 |
- |
4 |
11-2604758-T-G |
c.1015T>G |
p.Phe339Val |
Missense |
7/16 |
- |
1 |
11-2604759-T-C |
c.1016T>C |
p.Phe339Ser |
Missense |
7/16 |
- |
7 |
11-2604759-T-A |
c.1016T>A |
p.Phe339Tyr |
Missense |
7/16 |
- |
1 |
11-2604759-T-G |
c.1016T>G |
p.Phe339Cys |
Missense |
7/16 |
- |
2 |
11-2604759-TC-GG |
c.1016_1017delinsGG |
p.Phe339Trp |
Missense |
7/16 |
- |
1 |
11-2604760-TCTT-T |
c.1017_1019del |
p.Phe340del |
InFrameDeletion |
7/16 |
- |
2 |
11-2604763-T-G |
c.1020T>G |
p.Phe340Leu |
Missense |
7/16 |
- |
1 |
11-2604761-TTT-CAA |
c.1018_1020delinsCAA |
p.Phe340Gln |
Missense |
7/16 |
- |
1 |
11-2604761-T-G |
c.1018T>G |
p.Phe340Val |
Missense |
7/16 |
- |
2 |
11-2604761-T-C |
c.1018T>C |
p.Phe340Leu |
Missense |
7/16 |
- |
1 |
11-2604761-CTTT-C |
c.1018_1020del |
p.Phe340del |
InFrameDeletion |
7/16 |
- |
1 |
11-2604761-TT-GC |
c.1018_1019delinsGC |
p.Phe340Ala |
Missense |
7/16 |
- |
5 |
11-2604763-T-A |
c.1020T>A |
p.Phe340Leu |
Missense |
7/16 |
- |
1 |
11-2604762-TT-GG |
c.1019_1020delinsGG |
p.Phe340Trp |
Missense |
7/16 |
- |
6 |
11-2604762-T-G |
c.1019T>G |
p.Phe340Cys |
Missense |
7/16 |
- |
3 |
11-2604764-GCG-TGT |
c.1021_1023delinsTGT |
p.Ala341Cys |
Missense |
7/16 |
- |
3 |
11-2604765-C-G |
c.1022C>G |
p.Ala341Gly |
Missense |
7/16 |
- |
1 |
11-2604765-C-A |
c.1022C>A |
p.Ala341Glu |
Missense |
7/16 |
- |
12 |
11-2604765-C-T |
c.1022C>T |
p.Ala341Val |
Missense |
7/16 |
- |
64 |
11-2604766-GC-TT |
c.1023_1024delinsTT |
p.Leu342Phe |
Missense |
7/16 |
- |
1 |
11-2604767-CT-GC |
c.1024_1025delinsGC |
p.Leu342Ala |
Missense |
7/16 |
- |
3 |
11-2604767-C-T |
c.1024C>T |
p.Leu342Phe |
Missense |
7/16 |
- |
5 |
11-2604770-C-T |
c.1027C>T |
p.Pro343Ser |
Missense |
7/16 |
- |
2 |
11-2604770-C-G |
c.1027C>G |
p.Pro343Ala |
Missense |
7/16 |
- |
3 |
11-2604771-C-G |
c.1028C>G |
p.Pro343Arg |
Missense |
7/16 |
- |
1 |
11-2604771-C-T |
c.1028C>T |
p.Pro343Leu |
Missense |
7/16 |
- |
2 |
11-2604773-G-T |
c.1030G>T |
p.Ala344Ser |
Missense |
7/16 |
- |
1 |
11-2604773-GC-CA |
c.1030_1031delinsCA |
p.Ala344Gln |
Missense |
7/16 |
- |
1 |
11-2604773-GCG-TGT |
c.1030_1032delinsTGT |
p.Ala344Cys |
Missense |
7/16 |
- |
2 |
11-2604774-C-T |
c.1031C>T |
p.Ala344Val |
Missense |
7/16 |
- |
12 |
11-2604774-C-A |
c.1031C>A |
p.Ala344Glu |
Missense |
7/16 |
- |
3 |
11-2604775-G-T |
c.1032G>T |
p.Ala344Ala |
Synonymous |
7/16 |
- |
9 |
11-2604775-G-C |
c.1032G>C |
p.Ala344Ala |
Synonymous |
7/16 |
- |
9 |
11-2604775-G-A |
c.1032G>A |
p.Ala344Ala |
Synonymous |
7/16 |
- |
12 |
11-2604776-G-A |
c.1032+1G>A |
- |
IntronicSNV |
- |
7/15 |
1 |
11-2604778-A-G |
c.1032+3A>G |
- |
IntronicSNV |
- |
7/15 |
1 |
11-2606441-G-C |
c.1033-1G>C |
- |
IntronicSNV |
- |
7/15 |
1 |
11-2606442-G-A |
c.1033G>A |
p.Gly345Arg |
Missense |
8/16 |
- |
1 |
11-2606442-G-C |
c.1033G>C |
p.Gly345Arg |
Missense |
8/16 |
- |
1 |
11-2606443-G-A |
c.1034G>A |
p.Gly345Glu |
Missense |
8/16 |
- |
7 |
11-2606443-G-C |
c.1034G>C |
p.Gly345Ala |
Missense |
8/16 |
- |
3 |
11-2606445-AT-GC |
c.1036_1037delinsGC |
p.Ile346Ala |
Missense |
8/16 |
- |
3 |
11-2606448-CT-GC |
c.1039_1040delinsGC |
p.Leu347Ala |
Missense |
8/16 |
- |
2 |
11-2606449-T-C |
c.1040T>C |
p.Leu347Pro |
Missense |
8/16 |
- |
1 |
11-2606451-GGC-TGG |
c.1042_1044delinsTGG |
p.Gly348Trp |
Missense |
8/16 |
- |
1 |
11-2606452-G-C |
c.1043G>C |
p.Gly348Ala |
Missense |
8/16 |
- |
2 |
11-2606452-G-A |
c.1043G>A |
p.Gly348Asp |
Missense |
8/16 |
- |
1 |
11-2606454-T-G |
c.1045T>G |
p.Ser349Ala |
Missense |
8/16 |
- |
5 |
11-2606454-T-C |
c.1045T>C |
p.Ser349Pro |
Missense |
8/16 |
- |
2 |
11-2606455-C-G |
c.1046C>G |
p.Ser349Trp |
Missense |
8/16 |
- |
9 |
11-2606457-G-A |
c.1048G>A |
p.Gly350Arg |
Missense |
8/16 |
- |
3 |
11-2606457-G-T |
c.1048G>T |
p.Gly350Trp |
Missense |
8/16 |
- |
1 |
11-2606458-G-C |
c.1049G>C |
p.Gly350Ala |
Missense |
8/16 |
- |
3 |
11-2606458-G-T |
c.1049G>T |
p.Gly350Val |
Missense |
8/16 |
- |
1 |
11-2606460-T-C |
c.1051T>C |
p.Phe351Leu |
Missense |
8/16 |
- |
3 |
11-2606462-T-A |
c.1053T>A |
p.Phe351Leu |
Missense |
8/16 |
- |
3 |
11-2606462-T-G |
c.1053T>G |
p.Phe351Leu |
Missense |
8/16 |
- |
3 |
11-2606460-TT-GC |
c.1051_1052delinsGC |
p.Phe351Ala |
Missense |
8/16 |
- |
19 |
11-2606461-T-C |
c.1052T>C |
p.Phe351Ser |
Missense |
8/16 |
- |
3 |
11-2606463-GCC-TGG |
c.1054_1056delinsTGG |
p.Ala352Trp |
Missense |
8/16 |
- |
2 |
11-2606466-CT-GC |
c.1057_1058delinsGC |
p.Leu353Ala |
Missense |
8/16 |
- |
8 |
11-2606466-CT-TG |
c.1057_1058delinsTG |
p.Leu353Trp |
Missense |
8/16 |
- |
1 |
11-2606466-CTG-TGT |
c.1057_1059delinsTGT |
p.Leu353Cys |
Missense |
8/16 |
- |
1 |
11-2606466-CT-AA |
c.1057_1058delinsAA |
p.Leu353Lys |
Missense |
8/16 |
- |
8 |
11-2606466-CT-GA |
c.1057_1058delinsGA |
p.Leu353Glu |
Missense |
8/16 |
- |
3 |
11-2606467-T-C |
c.1058T>C |
p.Leu353Pro |
Missense |
8/16 |
- |
4 |
11-2606468-G-A |
c.1059G>A |
p.Leu353Leu |
Synonymous |
8/16 |
- |
1 |
11-2606469-AA-GC |
c.1060_1061delinsGC |
p.Lys354Ala |
Missense |
8/16 |
- |
5 |
11-2606469-AAG-TGT |
c.1060_1062delinsTGT |
p.Lys354Cys |
Missense |
8/16 |
- |
1 |
11-2606469-A-G |
c.1060A>G |
p.Lys354Glu |
Missense |
8/16 |
- |
1 |
11-2606470-A-G |
c.1061A>G |
p.Lys354Arg |
Missense |
8/16 |
- |
2 |
11-2606471-G-C |
c.1062G>C |
p.Lys354Asn |
Missense |
8/16 |
- |
1 |
11-2606471-G-T |
c.1062G>T |
p.Lys354Asn |
Missense |
8/16 |
- |
1 |
11-2606472-GT-TG |
c.1063_1064delinsTG |
p.Val355Trp |
Missense |
8/16 |
- |
2 |
11-2606473-T-C |
c.1064T>C |
p.Val355Ala |
Missense |
8/16 |
- |
2 |
11-2606475-GCAGCAG-G |
c.1066_1071del |
p.Gln356_Gln357del |
InFrameDeletion |
8/16 |
- |
1 |
11-2606475-CA-GC |
c.1066_1067delinsGC |
p.Gln356Ala |
Missense |
8/16 |
- |
1 |
11-2606475-C-T |
c.1066C>T |
p.Gln356* |
Nonsense |
8/16 |
- |
3 |
11-2606478-CA-GC |
c.1069_1070delinsGC |
p.Gln357Ala |
Missense |
8/16 |
- |
1 |
11-2606479-A-G |
c.1070A>G |
p.Gln357Arg |
Missense |
8/16 |
- |
12 |
11-2606480-G-C |
c.1071G>C |
p.Gln357His |
Missense |
8/16 |
- |
1 |
11-2606480-G-T |
c.1071G>T |
p.Gln357His |
Missense |
8/16 |
- |
1 |
11-2606481-AA-GC |
c.1072_1073delinsGC |
p.Lys358Ala |
Missense |
8/16 |
- |
5 |
11-2606481-A-G |
c.1072A>G |
p.Lys358Glu |
Missense |
8/16 |
- |
2 |
11-2606481-AAG-TGT |
c.1072_1074delinsTGT |
p.Lys358Cys |
Missense |
8/16 |
- |
1 |
11-2606483-G-C |
c.1074G>C |
p.Lys358Asn |
Missense |
8/16 |
- |
2 |
11-2606483-G-T |
c.1074G>T |
p.Lys358Asn |
Missense |
8/16 |
- |
2 |
11-2606484-CA-GC |
c.1075_1076delinsGC |
p.Gln359Ala |
Missense |
8/16 |
- |
1 |
11-2606484-C-T |
c.1075C>T |
p.Gln359* |
Nonsense |
8/16 |
- |
2 |
11-2606486-AGAGGCAGAAGCA-A |
c.1077_1088del |
p.Gln359_Lys362del |
InFrameDeletion |
8/16 |
- |
1 |
11-2606487-AGG-TGT |
c.1078_1080delinsTGT |
p.Arg360Cys |
Missense |
8/16 |
- |
1 |
11-2606487-A-G |
c.1078A>G |
p.Arg360Gly |
Missense |
8/16 |
- |
4 |
11-2606487-AG-CA |
c.1078_1079delinsCA |
p.Arg360Gln |
Missense |
8/16 |
- |
1 |
11-2606487-AG-GC |
c.1078_1079delinsGC |
p.Arg360Ala |
Missense |
8/16 |
- |
6 |
11-2606487-AG-GA |
c.1078_1079delinsGA |
p.Arg360Glu |
Missense |
8/16 |
- |
2 |
11-2606488-G-C |
c.1079G>C |
p.Arg360Thr |
Missense |
8/16 |
- |
4 |
11-2606488-G-T |
c.1079G>T |
p.Arg360Met |
Missense |
8/16 |
- |
3 |
11-2606490-CA-GC |
c.1081_1082delinsGC |
p.Gln361Ala |
Missense |
8/16 |
- |
1 |
11-2606491-A-AAAAGCAAAGGCA |
c.1082_1083insAAAGCAAAGGCA |
p.Gln359_Lys362dup |
InFrameInsertion |
8/16 |
- |
1 |
11-2606493-A-G |
c.1084A>G |
p.Lys362Glu |
Missense |
8/16 |
- |
1 |
11-2606493-AAG-TGT |
c.1084_1086delinsTGT |
p.Lys362Cys |
Missense |
8/16 |
- |
1 |
11-2606493-AA-GC |
c.1084_1085delinsGC |
p.Lys362Ala |
Missense |
8/16 |
- |
5 |
11-2606494-A-G |
c.1085A>G |
p.Lys362Arg |
Missense |
8/16 |
- |
8 |
11-2606495-G-T |
c.1086G>T |
p.Lys362Asn |
Missense |
8/16 |
- |
1 |
11-2606495-G-C |
c.1086G>C |
p.Lys362Asn |
Missense |
8/16 |
- |
1 |
11-2606496-C-A |
c.1087C>A |
p.His363Asn |
Missense |
8/16 |
- |
3 |
11-2606496-CA-TG |
c.1087_1088inv |
p.His363Cys |
Missense |
8/16 |
- |
1 |
11-2606502-A-C |
c.1093A>C |
p.Asn365His |
Missense |
8/16 |
- |
1 |
11-2606505-CG-GA |
c.1096_1097delinsGA |
p.Arg366Glu |
Missense |
8/16 |
- |
1 |
11-2606505-C-T |
c.1096C>T |
p.Arg366Trp |
Missense |
8/16 |
- |
6 |
11-2606506-G-A |
c.1097G>A |
p.Arg366Gln |
Missense |
8/16 |
- |
8 |
11-2606506-G-C |
c.1097G>C |
p.Arg366Pro |
Missense |
8/16 |
- |
1 |
11-2606510-G-T |
c.1101G>T |
p.Gln367His |
Missense |
8/16 |
- |
2 |
11-2606510-G-C |
c.1101G>C |
p.Gln367His |
Missense |
8/16 |
- |
2 |
11-2606514-CCG-TGT |
c.1105_1107delinsTGT |
p.Pro369Cys |
Missense |
8/16 |
- |
1 |
11-2606515-C-T |
c.1106C>T |
p.Pro369Leu |
Missense |
8/16 |
- |
3 |
11-2606517-GCG-TGT |
c.1108_1110delinsTGT |
p.Ala370Cys |
Missense |
8/16 |
- |
1 |
11-2606518-C-T |
c.1109C>T |
p.Ala370Val |
Missense |
8/16 |
- |
2 |
11-2606519-G-A |
c.1110G>A |
p.Ala370Ala |
Synonymous |
8/16 |
- |
2 |
11-2606520-G-A |
c.1111G>A |
p.Ala371Thr |
Missense |
8/16 |
- |
6 |
11-2606524-C-A |
c.1115C>A |
p.Ala372Asp |
Missense |
8/16 |
- |
4 |
11-2606526-T-C |
c.1117T>C |
p.Ser373Pro |
Missense |
8/16 |
- |
10 |
11-2606530-T-A |
c.1121T>A |
p.Leu374His |
Missense |
8/16 |
- |
1 |
11-2606540-G-A |
c.1128+3G>A |
- |
IntronicSNV |
- |
8/15 |
1 |
11-2606542-G-A |
c.1128+5G>A |
- |
IntronicSNV |
- |
8/15 |
1 |
11-2608798-A-G |
c.1129-2A>G |
- |
IntronicSNV |
- |
8/15 |
4 |
11-2608806-T-A |
c.1135T>A |
p.Trp379Arg |
Missense |
9/16 |
- |
2 |
11-2608806-T-C |
c.1135T>C |
p.Trp379Arg |
Missense |
9/16 |
- |
2 |
11-2608806-T-G |
c.1135T>G |
p.Trp379Gly |
Missense |
9/16 |
- |
1 |
11-2608807-G-C |
c.1136G>C |
p.Trp379Ser |
Missense |
9/16 |
- |
4 |
11-2608809-A-G |
c.1138A>G |
p.Arg380Gly |
Missense |
9/16 |
- |
2 |
11-2608811-G-T |
c.1140G>T |
p.Arg380Ser |
Missense |
9/16 |
- |
5 |
11-2608813-G-C |
c.1142G>C |
p.Cys381Ser |
Missense |
9/16 |
- |
1 |
11-2608812-T-A |
c.1141T>A |
p.Cys381Ser |
Missense |
9/16 |
- |
1 |
11-2608824-G-A |
c.1153G>A |
p.Glu385Lys |
Missense |
9/16 |
- |
1 |
11-2608836-T-C |
c.1165T>C |
p.Ser389Pro |
Missense |
9/16 |
- |
2 |
11-2608837-C-A |
c.1166C>A |
p.Ser389Tyr |
Missense |
9/16 |
- |
2 |
11-2608843-C-T |
c.1172C>T |
p.Thr391Ile |
Missense |
9/16 |
- |
6 |
11-2608845-T-A |
c.1174T>A |
p.Trp392Arg |
Missense |
9/16 |
- |
9 |
11-2608845-T-C |
c.1174T>C |
p.Trp392Arg |
Missense |
9/16 |
- |
9 |
11-2608849-A-T |
c.1178A>T |
p.Lys393Met |
Missense |
9/16 |
- |
2 |
11-2608850-G-T |
c.1179G>T |
p.Lys393Asn |
Missense |
9/16 |
- |
10 |
11-2608855-A-C |
c.1184A>C |
p.Tyr395Ser |
Missense |
9/16 |
- |
1 |
11-2608860-C-T |
c.1189C>T |
p.Arg397Trp |
Missense |
9/16 |
- |
8 |
11-2608860-CGG-AAC |
c.1189_1191delinsAAC |
p.Arg397Asn |
Missense |
9/16 |
- |
1 |
11-2608861-G-A |
c.1190G>A |
p.Arg397Gln |
Missense |
9/16 |
- |
2 |
11-2608864-A-G |
c.1193A>G |
p.Lys398Arg |
Missense |
9/16 |
- |
1 |
11-2608866-G-T |
c.1195G>T |
p.Ala399Ser |
Missense |
9/16 |
- |
1 |
11-2608872-C-CC |
c.1201dup |
p.Arg401Profs*62 |
Frameshift |
9/16 |
- |
1 |
11-2608872-CG-TA |
c.1201_1202delinsTA |
p.Arg401* |
Nonsense |
9/16 |
- |
1 |
11-2608872-CGG-AAC |
c.1201_1203delinsAAC |
p.Arg401Asn |
Missense |
9/16 |
- |
1 |
11-2608873-G-GC |
c.1202_1203insC |
p.Ser402Glufs*61 |
Frameshift |
9/16 |
- |
1 |
11-2608890-T-G |
c.1219T>G |
p.Ser407Ala |
Missense |
9/16 |
- |
1 |
11-2608890-TCA-GAC |
c.1219_1221delinsGAC |
p.Ser407Asp |
Missense |
9/16 |
- |
1 |
11-2608893-C-G |
c.1222C>G |
p.Pro408Ala |
Missense |
9/16 |
- |
4 |
11-2608896-AG-GC |
c.1225_1226delinsGC |
p.Ser409Ala |
Missense |
9/16 |
- |
1 |
11-2608896-AG-GA |
c.1225_1226delinsGA |
p.Ser409Asp |
Missense |
9/16 |
- |
1 |
11-2608920-G-A |
c.1249G>A |
p.Val417Met |
Missense |
9/16 |
- |
2 |
11-2608923-G-A |
c.1251+1G>A |
- |
IntronicSNV |
- |
9/15 |
1 |
11-2609953-AAAAAGTT-A |
c.1262_1268del |
p.Lys421Thrfs*9 |
Frameshift |
10/16 |
- |
1 |
11-2609956-AA-A |
c.1265del |
p.Lys422Serfs*10 |
Frameshift |
10/16 |
- |
1 |
11-2609956-A-C |
c.1265A>C |
p.Lys422Thr |
Missense |
10/16 |
- |
1 |
11-2609961-A-C |
c.1270A>C |
p.Lys424Gln |
Missense |
10/16 |
- |
1 |
11-2609973-G-A |
c.1282G>A |
p.Asp428Asn |
Missense |
10/16 |
- |
1 |
11-2609974-A-G |
c.1283A>G |
p.Asp428Gly |
Missense |
10/16 |
- |
1 |
11-2609979-GGG-TTT |
c.1288_1290delinsTTT |
p.Gly430Phe |
Missense |
10/16 |
- |
1 |
11-2610000-A-G |
c.1309A>G |
p.Met437Val |
Missense |
10/16 |
- |
2 |
11-2610004-T-TT |
c.1313dup |
p.Thr439Hisfs*24 |
Frameshift |
10/16 |
- |
1 |
11-2610006-AC-GT |
c.1315_1316inv |
p.Thr439Val |
Missense |
10/16 |
- |
1 |
11-2610006-A-T |
c.1315A>T |
p.Thr439Ser |
Missense |
10/16 |
- |
1 |
11-2610010-GT-G |
c.1319del |
p.Val440Alafs*26 |
Frameshift |
10/16 |
- |
1 |
11-2610012-C-T |
c.1321C>T |
p.Pro441Ser |
Missense |
10/16 |
- |
1 |
11-2610022-C-T |
c.1331C>T |
p.Thr444Met |
Missense |
10/16 |
- |
1 |
11-2610024-T-A |
c.1333T>A |
p.Cys445Ser |
Missense |
10/16 |
- |
1 |
11-2610025-G-C |
c.1334G>C |
p.Cys445Ser |
Missense |
10/16 |
- |
1 |
11-2610029-C-G |
c.1338C>G |
p.Asp446Glu |
Missense |
10/16 |
- |
2 |
11-2610029-C-A |
c.1338C>A |
p.Asp446Glu |
Missense |
10/16 |
- |
2 |
11-2610034-C-G |
c.1343C>G |
p.Pro448Arg |
Missense |
10/16 |
- |
21 |
11-2610034-C-T |
c.1343C>T |
p.Pro448Leu |
Missense |
10/16 |
- |
2 |
11-2610034-C-CC |
c.1343dup |
p.Glu449Argfs*14 |
Frameshift |
10/16 |
- |
1 |
11-2610035-A-AT |
c.1344_1345insT |
p.Glu449* |
Nonsense |
10/16 |
- |
1 |
11-2610042-C-T |
c.1351C>T |
p.Arg451Trp |
Missense |
10/16 |
- |
1 |
11-2610043-G-A |
c.1352G>A |
p.Arg451Gln |
Missense |
10/16 |
- |
3 |
11-2610045-C-T |
c.1354C>T |
p.Arg452Trp |
Missense |
10/16 |
- |
5 |
11-2610046-G-A |
c.1355G>A |
p.Arg452Gln |
Missense |
10/16 |
- |
1 |
11-2610054-C-T |
c.1363C>T |
p.His455Tyr |
Missense |
10/16 |
- |
2 |
11-2610060-T-G |
c.1369T>G |
p.Ser457Ala |
Missense |
10/16 |
- |
1 |
11-2610060-TC-GA |
c.1369_1370inv |
p.Ser457Asp |
Missense |
10/16 |
- |
1 |
11-2610067-A-C |
c.1376A>C |
p.Asp459Ala |
Missense |
10/16 |
- |
1 |
11-2610069-G-T |
c.1378G>T |
p.Gly460Cys |
Missense |
10/16 |
- |
1 |
11-2610069-G-A |
c.1378G>A |
p.Gly460Ser |
Missense |
10/16 |
- |
8 |
11-2610070-G-A |
c.1379G>A |
p.Gly460Asp |
Missense |
10/16 |
- |
1 |
11-2610074-T-A |
c.1383T>A |
p.Tyr461* |
Nonsense |
10/16 |
- |
2 |
11-2610074-T-G |
c.1383T>G |
p.Tyr461* |
Nonsense |
10/16 |
- |
2 |
11-2610081-T-A |
c.1390T>A |
p.Ser464Thr |
Missense |
10/16 |
- |
1 |
11-2619630-A-G |
c.1393+9546A>G |
- |
IntronicSNV |
- |
10/15 |
2 |
11-2619630-A-T |
c.1393+9546A>T |
- |
IntronicSNV |
- |
10/15 |
2 |
11-2632553-C-A |
c.1393+22469C>A |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2632553-C-G |
c.1393+22469C>G |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2633152-A-G |
c.1393+23068A>G |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2633715-G-C |
c.1393+23631G>C |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2633715-G-A |
c.1393+23631G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2638081-T-C |
c.1393+27997T>C |
- |
IntronicSNV |
- |
10/15 |
2 |
11-2639712-G-A |
c.1393+29628G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2640824-G-A |
c.1393+30740G>A |
- |
IntronicSNV |
- |
10/15 |
3 |
11-2642037-A-G |
c.1393+31953A>G |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2644544-G-A |
c.1393+34460G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2644544-G-C |
c.1393+34460G>C |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2652657-T-G |
c.1394-30534T>G |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2654673-G-A |
c.1394-28518G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2663891-G-A |
c.1394-19300G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2663891-G-T |
c.1394-19300G>T |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2673575-G-A |
c.1394-9616G>A |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2681118-T-G |
c.1394-2073T>G |
- |
IntronicSNV |
- |
10/15 |
2 |
11-2681632-A-C |
c.1394-1559A>C |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2683152-T-G |
c.1394-39T>G |
- |
IntronicSNV |
- |
10/15 |
2 |
11-2683152-T-C |
c.1394-39T>C |
- |
IntronicSNV |
- |
10/15 |
2 |
11-2683177-C-T |
c.1394-14C>T |
- |
IntronicSNV |
- |
10/15 |
1 |
11-2683199-AG-GC |
c.1402_1403delinsGC |
p.Ser468Ala |
Missense |
11/16 |
- |
2 |
11-2683199-AG-GA |
c.1402_1403delinsGA |
p.Ser468Asp |
Missense |
11/16 |
- |
2 |
11-2683205-ACA-GAC |
c.1408_1410delinsGAC |
p.Thr470Asp |
Missense |
11/16 |
- |
1 |
11-2683205-A-G |
c.1408A>G |
p.Thr470Ala |
Missense |
11/16 |
- |
2 |
11-2683217-GTG-TGT |
c.1420_1422delinsTGT |
p.Val474Cys |
Missense |
11/16 |
- |
1 |
11-2683223-CATGC-C |
c.1426_1429del |
p.Met476Profs*4 |
Frameshift |
11/16 |
- |
1 |
11-2683227-C-T |
c.1430C>T |
p.Pro477Leu |
Missense |
11/16 |
- |
1 |
11-2683232-T-C |
c.1435T>C |
p.Phe479Leu |
Missense |
11/16 |
- |
1 |
11-2683234-C-A |
c.1437C>A |
p.Phe479Leu |
Missense |
11/16 |
- |
1 |
11-2683234-C-G |
c.1437C>G |
p.Phe479Leu |
Missense |
11/16 |
- |
1 |
11-2683241-AC-GA |
c.1444_1445delinsGA |
p.Thr482Asp |
Missense |
11/16 |
- |
1 |
11-2683241-A-G |
c.1444A>G |
p.Thr482Ala |
Missense |
11/16 |
- |
1 |
11-2683247-AG-GA |
c.1450_1451delinsGA |
p.Ser484Asp |
Missense |
11/16 |
- |
2 |
11-2683247-AG-GC |
c.1450_1451delinsGC |
p.Ser484Ala |
Missense |
11/16 |
- |
2 |
11-2683259-G-A |
c.1462G>A |
p.Asp488Asn |
Missense |
11/16 |
- |
1 |
11-2683265-G-A |
c.1468G>A |
p.Asp490Asn |
Missense |
11/16 |
- |
1 |
11-2683283-TCT-T |
c.1486_1487del |
p.Leu496Alafs*19 |
Frameshift |
11/16 |
- |
2 |
11-2683289-A-G |
c.1492A>G |
p.Thr498Ala |
Missense |
11/16 |
- |
1 |
11-2683329-C-T |
c.1514+18C>T |
- |
IntronicSNV |
- |
11/15 |
2 |
11-2683357-A-G |
c.1514+46A>G |
- |
IntronicSNV |
- |
11/15 |
7 |
11-2685864-T-C |
c.1514+2553T>C |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2688526-G-A |
c.1514+5215G>A |
- |
IntronicSNV |
- |
11/15 |
2 |
11-2690293-A-C |
c.1514+6982A>C |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2690293-A-G |
c.1514+6982A>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2690531-T-C |
c.1514+7220T>C |
- |
IntronicSNV |
- |
11/15 |
2 |
11-2691471-A-G |
c.1514+8160A>G |
- |
IntronicSNV |
- |
11/15 |
93 |
11-2691500-G-A |
c.1514+8189G>A |
- |
IntronicSNV |
- |
11/15 |
14 |
11-2692249-C-T |
c.1514+8938C>T |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2692249-C-G |
c.1514+8938C>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2694606-C-A |
c.1514+11295C>A |
- |
IntronicSNV |
- |
11/15 |
7 |
11-2695042-C-T |
c.1514+11731C>T |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2696744-A-G |
c.1514+13433A>G |
- |
IntronicSNV |
- |
11/15 |
2 |
11-2700161-A-G |
c.1514+16850A>G |
- |
IntronicSNV |
- |
11/15 |
2 |
11-2702513-C-T |
c.1514+19202C>T |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2705175-A-G |
c.1514+21864A>G |
- |
IntronicSNV |
- |
11/15 |
6 |
11-2705175-A-T |
c.1514+21864A>T |
- |
IntronicSNV |
- |
11/15 |
6 |
11-2705343-A-G |
c.1514+22032A>G |
- |
IntronicSNV |
- |
11/15 |
10 |
11-2705343-A-T |
c.1514+22032A>T |
- |
IntronicSNV |
- |
11/15 |
10 |
11-2706327-G-C |
c.1514+23016G>C |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2706351-T-C |
c.1514+23040T>C |
- |
IntronicSNV |
- |
11/15 |
3 |
11-2709019-A-G |
c.1514+25708A>G |
- |
IntronicSNV |
- |
11/15 |
3 |
11-2709733-T-C |
c.1514+26422T>C |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2709733-T-A |
c.1514+26422T>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2710822-T-C |
c.1514+27511T>C |
- |
IntronicSNV |
- |
11/15 |
3 |
11-2710822-T-G |
c.1514+27511T>G |
- |
IntronicSNV |
- |
11/15 |
3 |
11-2713649-C-A |
c.1514+30338C>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2715455-G-A |
c.1514+32144G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2715532-T-G |
c.1514+32221T>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2717051-A-T |
c.1514+33740A>T |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2717293-T-C |
c.1514+33982T>C |
- |
IntronicSNV |
- |
11/15 |
3 |
11-2717680-C-T |
c.1514+34369C>T |
- |
IntronicSNV |
- |
11/15 |
3 |
11-2720542-G-A |
c.1514+37231G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2721157-G-A |
c.1514+37846G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2721394-C-G |
c.1514+38083C>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2721394-C-A |
c.1514+38083C>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2721406-A-C |
c.1514+38095A>C |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2721406-A-G |
c.1514+38095A>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2721568-T-C |
c.1514+38257T>C |
- |
IntronicSNV |
- |
11/15 |
3 |
11-2722085-G-A |
c.1514+38774G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2723604-G-T |
c.1514+40293G>T |
- |
IntronicSNV |
- |
11/15 |
4 |
11-2724130-C-T |
c.1514+40819C>T |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2725752-C-A |
c.1514+42441C>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2725779-G-T |
c.1514+42468G>T |
- |
IntronicSNV |
- |
11/15 |
2 |
11-2725779-G-C |
c.1514+42468G>C |
- |
IntronicSNV |
- |
11/15 |
2 |
11-2727185-C-G |
c.1514+43874C>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2727185-C-T |
c.1514+43874C>T |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2727517-T-C |
c.1514+44206T>C |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2729327-A-C |
c.1514+46016A>C |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2729340-C-T |
c.1514+46029C>T |
- |
IntronicSNV |
- |
11/15 |
2 |
11-2731185-C-A |
c.1514+47874C>A |
- |
IntronicSNV |
- |
11/15 |
2 |
11-2731185-C-T |
c.1514+47874C>T |
- |
IntronicSNV |
- |
11/15 |
2 |
11-2736026-C-A |
c.1514+52715C>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2736183-A-C |
c.1514+52872A>C |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2736183-A-G |
c.1514+52872A>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2737905-A-G |
c.1515-52169A>G |
- |
IntronicSNV |
- |
11/15 |
4 |
11-2743859-G-A |
c.1515-46215G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2747905-C-G |
c.1515-42169C>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2748477-A-C |
c.1515-41597A>C |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2748477-A-G |
c.1515-41597A>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2751979-G-T |
c.1515-38095G>T |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2752130-A-T |
c.1515-37944A>T |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2752183-C-A |
c.1515-37891C>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2752609-G-A |
c.1515-37465G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2755548-A-G |
c.1515-34526A>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2755548-A-T |
c.1515-34526A>T |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2755601-T-C |
c.1515-34473T>C |
- |
IntronicSNV |
- |
11/15 |
7 |
11-2757985-C-T |
c.1515-32089C>T |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2757985-C-A |
c.1515-32089C>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2758192-A-C |
c.1515-31882A>C |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2759090-C-T |
c.1515-30984C>T |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2764118-A-G |
c.1515-25956A>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2766234-G-A |
c.1515-23840G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2767262-G-A |
c.1515-22812G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2772878-C-G |
c.1515-17196C>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2772878-C-T |
c.1515-17196C>T |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2773405-T-C |
c.1515-16669T>C |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2774374-A-G |
c.1515-15700A>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2781519-G-A |
c.1515-8555G>A |
- |
IntronicSNV |
- |
11/15 |
5 |
11-2781670-T-C |
c.1515-8404T>C |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2781824-G-A |
c.1515-8250G>A |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2782581-T-C |
c.1515-7493T>C |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2782581-T-G |
c.1515-7493T>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2785623-A-G |
c.1515-4451A>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2786302-G-A |
c.1515-3772G>A |
- |
IntronicSNV |
- |
11/15 |
2 |
11-2786302-G-T |
c.1515-3772G>T |
- |
IntronicSNV |
- |
11/15 |
2 |
11-2787804-A-G |
c.1515-2270A>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2789062-A-T |
c.1515-1012A>T |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2789062-A-G |
c.1515-1012A>G |
- |
IntronicSNV |
- |
11/15 |
1 |
11-2789955-A-G |
c.1515-119A>G |
- |
IntronicSNV |
- |
11/15 |
3 |
11-2790019-G-A |
c.1515-55G>A |
- |
IntronicSNV |
- |
11/15 |
4 |
11-2790019-G-T |
c.1515-55G>T |
- |
IntronicSNV |
- |
11/15 |
4 |
11-2790090-C-T |
c.1531C>T |
p.Arg511Trp |
Missense |
12/16 |
- |
1 |
11-2790093-GG-G |
c.1534del |
p.Ala512Profs*81 |
Frameshift |
12/16 |
- |
2 |
11-2790097-C-G |
c.1538C>G |
p.Thr513Ser |
Missense |
12/16 |
- |
1 |
11-2790096-A-T |
c.1537A>T |
p.Thr513Ser |
Missense |
12/16 |
- |
1 |
11-2790100-T-C |
c.1541T>C |
p.Ile514Thr |
Missense |
12/16 |
- |
1 |
11-2790106-T-A |
c.1547T>A |
p.Val516Asp |
Missense |
12/16 |
- |
1 |
11-2790109-T-C |
c.1550T>C |
p.Ile517Thr |
Missense |
12/16 |
- |
3 |
11-2790111-C-T |
c.1552C>T |
p.Arg518* |
Nonsense |
12/16 |
- |
30 |
11-2790111-C-G |
c.1552C>G |
p.Arg518Gly |
Missense |
12/16 |
- |
1 |
11-2790112-G-C |
c.1553G>C |
p.Arg518Pro |
Missense |
12/16 |
- |
1 |
11-2790112-G-A |
c.1553G>A |
p.Arg518Gln |
Missense |
12/16 |
- |
2 |
11-2790114-C-T |
c.1555C>T |
p.Arg519Cys |
Missense |
12/16 |
- |
1 |
11-2790115-G-A |
c.1556G>A |
p.Arg519His |
Missense |
12/16 |
- |
1 |
11-2790118-T-G |
c.1559T>G |
p.Met520Arg |
Missense |
12/16 |
- |
4 |
11-2790123-TA-GC |
c.1564_1565delinsGC |
p.Tyr522Ala |
Missense |
12/16 |
- |
1 |
11-2790124-A-C |
c.1565A>C |
p.Tyr522Ser |
Missense |
12/16 |
- |
2 |
11-2790124-A-G |
c.1565A>G |
p.Tyr522Cys |
Missense |
12/16 |
- |
1 |
11-2790125-C-G |
c.1566C>G |
p.Tyr522* |
Nonsense |
12/16 |
- |
1 |
11-2790125-C-A |
c.1566C>A |
p.Tyr522* |
Nonsense |
12/16 |
- |
1 |
11-2790130-T-G |
c.1571T>G |
p.Val524Gly |
Missense |
12/16 |
- |
5 |
11-2790132-G-A |
c.1573G>A |
p.Ala525Thr |
Missense |
12/16 |
- |
7 |
11-2790133-C-T |
c.1574C>T |
p.Ala525Val |
Missense |
12/16 |
- |
1 |
11-2790135-A-G |
c.1576A>G |
p.Lys526Glu |
Missense |
12/16 |
- |
4 |
11-2790137-G-C |
c.1578G>C |
p.Lys526Asn |
Missense |
12/16 |
- |
1 |
11-2790137-G-T |
c.1578G>T |
p.Lys526Asn |
Missense |
12/16 |
- |
1 |
11-2790140-G-C |
c.1581G>C |
p.Lys527Asn |
Missense |
12/16 |
- |
1 |
11-2790140-G-T |
c.1581G>T |
p.Lys527Asn |
Missense |
12/16 |
- |
1 |
11-2790143-A-C |
c.1584A>C |
p.Lys528Asn |
Missense |
12/16 |
- |
1 |
11-2790143-A-T |
c.1584A>T |
p.Lys528Asn |
Missense |
12/16 |
- |
1 |
11-2790147-C-T |
c.1588C>T |
p.Gln530* |
Nonsense |
12/16 |
- |
18 |
11-2790148-A-C |
c.1589A>C |
p.Gln530Pro |
Missense |
12/16 |
- |
1 |
11-2790150-G-A |
c.1590+1G>A |
- |
IntronicSNV |
- |
12/15 |
1 |
11-2790163-T-C |
c.1590+14T>C |
- |
IntronicSNV |
- |
12/15 |
1 |
11-2790180-A-T |
c.1590+31A>T |
- |
IntronicSNV |
- |
12/15 |
1 |
11-2790736-C-A |
c.1590+587C>A |
- |
IntronicSNV |
- |
12/15 |
1 |
11-2790736-C-G |
c.1590+587C>G |
- |
IntronicSNV |
- |
12/15 |
1 |
11-2794998-A-G |
c.1591-2192A>G |
- |
IntronicSNV |
- |
12/15 |
1 |
11-2795519-TG-T |
c.1591-1671del |
- |
IntronicDeletion |
- |
12/15 |
1 |
11-2797196-C-T |
c.1597C>T |
p.Arg533Trp |
Missense |
13/16 |
- |
7 |
11-2797197-G-A |
c.1598G>A |
p.Arg533Gln |
Missense |
13/16 |
- |
1 |
11-2797202-C-A |
c.1603C>A |
p.Pro535Thr |
Missense |
13/16 |
- |
1 |
11-2797214-C-T |
c.1615C>T |
p.Arg539Trp |
Missense |
13/16 |
- |
17 |
11-2797214-C-A |
c.1615C>A |
p.Arg539Arg |
Synonymous |
13/16 |
- |
1 |
11-2797216-G-A |
c.1617G>A |
p.Arg539Arg |
Synonymous |
13/16 |
- |
1 |
11-2797216-G-C |
c.1617G>C |
p.Arg539Arg |
Synonymous |
13/16 |
- |
1 |
11-2797216-G-T |
c.1617G>T |
p.Arg539Arg |
Synonymous |
13/16 |
- |
1 |
11-2797214-CGG-TTT |
c.1615_1617delinsTTT |
p.Arg539Phe |
Missense |
13/16 |
- |
1 |
11-2797217-GA-TG |
c.1618_1619delinsTG |
p.Asp540Cys |
Missense |
13/16 |
- |
2 |
11-2797217-GAC-AAG |
c.1618_1620delinsAAG |
p.Asp540Lys |
Missense |
13/16 |
- |
2 |
11-2797226-G-A |
c.1627G>A |
p.Glu543Lys |
Missense |
13/16 |
- |
1 |
11-2797236-C-T |
c.1637C>T |
p.Ser546Leu |
Missense |
13/16 |
- |
4 |
11-2797237-G-C |
c.1638G>C |
p.Ser546Ser |
Synonymous |
13/16 |
- |
7 |
11-2797237-G-A |
c.1638G>A |
p.Ser546Ser |
Synonymous |
13/16 |
- |
15 |
11-2797237-G-T |
c.1638G>T |
p.Ser546Ser |
Synonymous |
13/16 |
- |
7 |
11-2797239-A-G |
c.1640A>G |
p.Gln547Arg |
Missense |
13/16 |
- |
1 |
11-2797242-G-A |
c.1643G>A |
p.Gly548Asp |
Missense |
13/16 |
- |
1 |
11-2797253-CT-AG |
c.1654_1655inv |
p.Leu552Ser |
Missense |
13/16 |
- |
2 |
11-2797260-T-C |
c.1661T>C |
p.Val554Ala |
Missense |
13/16 |
- |
1 |
11-2797262-C-A |
c.1663C>A |
p.Arg555Ser |
Missense |
13/16 |
- |
1 |
11-2797262-C-T |
c.1663C>T |
p.Arg555Cys |
Missense |
13/16 |
- |
24 |
11-2797263-G-A |
c.1664G>A |
p.Arg555His |
Missense |
13/16 |
- |
8 |
11-2797268-A-G |
c.1669A>G |
p.Lys557Glu |
Missense |
13/16 |
- |
6 |
11-2797275-TG-AT |
c.1676_1677delinsAT |
p.Leu559His |
Missense |
13/16 |
- |
1 |
11-2797280-A-G |
c.1681A>G |
p.Arg561Gly |
Missense |
13/16 |
- |
2 |
11-2797284-G-T |
c.1685G>T |
p.Arg562Met |
Missense |
13/16 |
- |
3 |
11-2797320-A-T |
c.1685+36A>T |
- |
IntronicSNV |
- |
13/15 |
5 |
11-2797320-A-G |
c.1685+36A>G |
- |
IntronicSNV |
- |
13/15 |
5 |
11-2797430-G-C |
c.1685+146G>C |
- |
IntronicSNV |
- |
13/15 |
1 |
11-2798216-G-T |
c.1686G>T |
p.Arg562Ser |
Missense |
14/16 |
- |
1 |
11-2798216-G-C |
c.1686G>C |
p.Arg562Ser |
Missense |
14/16 |
- |
1 |
11-2798218-T-C |
c.1688T>C |
p.Leu563Pro |
Missense |
14/16 |
- |
1 |
11-2798221-A-G |
c.1691A>G |
p.Asp564Gly |
Missense |
14/16 |
- |
1 |
11-2798226-T-C |
c.1696T>C |
p.Ser566Pro |
Missense |
14/16 |
- |
1 |
11-2798227-C-T |
c.1697C>T |
p.Ser566Phe |
Missense |
14/16 |
- |
5 |
11-2798229-A-T |
c.1699A>T |
p.Ile567Phe |
Missense |
14/16 |
- |
1 |
11-2798230-T-C |
c.1700T>C |
p.Ile567Thr |
Missense |
14/16 |
- |
2 |
11-2798230-T-G |
c.1700T>G |
p.Ile567Ser |
Missense |
14/16 |
- |
2 |
11-2798232-G-A |
c.1702G>A |
p.Gly568Arg |
Missense |
14/16 |
- |
3 |
11-2798233-G-C |
c.1703G>C |
p.Gly568Ala |
Missense |
14/16 |
- |
4 |
11-2798239-C-T |
c.1709C>T |
p.Pro570Leu |
Missense |
14/16 |
- |
1 |
11-2798249-C-A |
c.1719C>A |
p.Phe573Leu |
Missense |
14/16 |
- |
1 |
11-2798249-C-G |
c.1719C>G |
p.Phe573Leu |
Missense |
14/16 |
- |
1 |
11-2798247-T-C |
c.1717T>C |
p.Phe573Leu |
Missense |
14/16 |
- |
1 |
11-2798256-G-A |
c.1726G>A |
p.Val576Ile |
Missense |
14/16 |
- |
2 |
11-2798305-T-C |
c.1732+43T>C |
- |
IntronicSNV |
- |
14/15 |
6 |
11-2799214-A-T |
c.1741A>T |
p.Lys581* |
Nonsense |
15/16 |
- |
1 |
11-2799220-C-T |
c.1747C>T |
p.Arg583Cys |
Missense |
15/16 |
- |
5 |
11-2799220-C-G |
c.1747C>G |
p.Arg583Gly |
Missense |
15/16 |
- |
1 |
11-2799220-CG-GC |
c.1747_1748delinsGC |
p.Arg583Ala |
Missense |
15/16 |
- |
1 |
11-2799221-G-A |
c.1748G>A |
p.Arg583His |
Missense |
15/16 |
- |
3 |
11-2799223-G-A |
c.1750G>A |
p.Gly584Ser |
Missense |
15/16 |
- |
1 |
11-2799229-A-G |
c.1756A>G |
p.Asn586Asp |
Missense |
15/16 |
- |
3 |
11-2799230-A-G |
c.1757A>G |
p.Asn586Ser |
Missense |
15/16 |
- |
1 |
11-2799233-C-G |
c.1760C>G |
p.Thr587Arg |
Missense |
15/16 |
- |
1 |
11-2799233-C-T |
c.1760C>T |
p.Thr587Met |
Missense |
15/16 |
- |
17 |
11-2799235-A-T |
c.1762A>T |
p.Ile588Phe |
Missense |
15/16 |
- |
1 |
11-2799238-G-A |
c.1765G>A |
p.Gly589Ser |
Missense |
15/16 |
- |
1 |
11-2799239-G-A |
c.1766G>A |
p.Gly589Asp |
Missense |
15/16 |
- |
54 |
11-2799241-G-A |
c.1768G>A |
p.Ala590Thr |
Missense |
15/16 |
- |
7 |
11-2799241-GCC-TGG |
c.1768_1770delinsTGG |
p.Ala590Trp |
Missense |
15/16 |
- |
2 |
11-2799241-GCC-TAA |
c.1768_1770delinsTAA |
p.Ala590* |
Nonsense |
15/16 |
- |
1 |
11-2799244-C-T |
c.1771C>T |
p.Arg591Cys |
Missense |
15/16 |
- |
2 |
11-2799245-G-A |
c.1772G>A |
p.Arg591His |
Missense |
15/16 |
- |
14 |
11-2799245-G-T |
c.1772G>T |
p.Arg591Leu |
Missense |
15/16 |
- |
2 |
11-2799247-CT-GG |
c.1774_1775delinsGG |
p.Leu592Gly |
Missense |
15/16 |
- |
1 |
11-2799252-C-A |
c.1779C>A |
p.Asn593Lys |
Missense |
15/16 |
- |
1 |
11-2799252-C-G |
c.1779C>G |
p.Asn593Lys |
Missense |
15/16 |
- |
1 |
11-2799253-CGA-TGT |
c.1780_1782delinsTGT |
p.Arg594Cys |
Missense |
15/16 |
- |
1 |
11-2799253-C-T |
c.1780C>T |
p.Arg594* |
Nonsense |
15/16 |
- |
2 |
11-2799254-G-C |
c.1781G>C |
p.Arg594Pro |
Missense |
15/16 |
- |
1 |
11-2799254-G-A |
c.1781G>A |
p.Arg594Gln |
Missense |
15/16 |
- |
29 |
11-2799259-G-A |
c.1786G>A |
p.Glu596Lys |
Missense |
15/16 |
- |
1 |
11-2799265-AAG-GAC |
c.1792_1794delinsGAC |
p.Lys598Asp |
Missense |
15/16 |
- |
1 |
11-2799266-A-G |
c.1793A>G |
p.Lys598Arg |
Missense |
15/16 |
- |
2 |
11-2799267-G-A |
c.1794G>A |
p.Lys598Lys |
Synonymous |
15/16 |
- |
1 |
11-2799679-T-G |
c.1794+412T>G |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2799679-T-C |
c.1794+412T>C |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2799687-G-A |
c.1794+420G>A |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2799687-G-C |
c.1794+420G>C |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2799872-G-GG |
c.1794+605dup |
- |
IntronicInsertion |
- |
15/15 |
1 |
11-2800669-C-T |
c.1794+1402C>T |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2802090-G-C |
c.1794+2823G>C |
- |
IntronicSNV |
- |
15/15 |
2 |
11-2810731-C-T |
c.1794+11464C>T |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2813084-G-C |
c.1794+13817G>C |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2813084-G-A |
c.1794+13817G>A |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2813322-C-T |
c.1794+14055C>T |
- |
IntronicSNV |
- |
15/15 |
3 |
11-2814960-C-G |
c.1794+15693C>G |
- |
IntronicSNV |
- |
15/15 |
4 |
11-2817795-C-T |
c.1794+18528C>T |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2821065-T-C |
c.1794+21798T>C |
- |
IntronicSNV |
- |
15/15 |
4 |
11-2821427-C-T |
c.1794+22160C>T |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2821615-A-C |
c.1794+22348A>C |
- |
IntronicSNV |
- |
15/15 |
24 |
11-2821968-T-C |
c.1794+22701T>C |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2824573-C-T |
c.1794+25306C>T |
- |
IntronicSNV |
- |
15/15 |
3 |
11-2824573-C-G |
c.1794+25306C>G |
- |
IntronicSNV |
- |
15/15 |
3 |
11-2824800-G-T |
c.1794+25533G>T |
- |
IntronicSNV |
- |
15/15 |
14 |
11-2826603-A-G |
c.1794+27336A>G |
- |
IntronicSNV |
- |
15/15 |
3 |
11-2831541-T-C |
c.1794+32274T>C |
- |
IntronicSNV |
- |
15/15 |
6 |
11-2833427-C-A |
c.1794+34160C>A |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2835780-A-G |
c.1795-33217A>G |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2836085-A-G |
c.1795-32912A>G |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2838413-T-C |
c.1795-30584T>C |
- |
IntronicSNV |
- |
15/15 |
6 |
11-2839751-C-T |
c.1795-29246C>T |
- |
IntronicSNV |
- |
15/15 |
184 |
11-2840424-C-A |
c.1795-28573C>A |
- |
IntronicSNV |
- |
15/15 |
2 |
11-2840424-C-T |
c.1795-28573C>T |
- |
IntronicSNV |
- |
15/15 |
2 |
11-2844216-G-A |
c.1795-24781G>A |
- |
IntronicSNV |
- |
15/15 |
12 |
11-2844216-G-C |
c.1795-24781G>C |
- |
IntronicSNV |
- |
15/15 |
12 |
11-2844441-T-C |
c.1795-24556T>C |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2845082-T-C |
c.1795-23915T>C |
- |
IntronicSNV |
- |
15/15 |
2 |
11-2846418-TGGGGC-TGGGGCTGGGGC |
c.1795-22579_1795-22574dup |
- |
IntronicInsertion |
- |
15/15 |
1 |
11-2846427-G-A |
c.1795-22570G>A |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2847069-T-G |
c.1795-21928T>G |
- |
IntronicSNV |
- |
15/15 |
46 |
11-2849530-A-C |
c.1795-19467A>C |
- |
IntronicSNV |
- |
15/15 |
42 |
11-2852529-T-C |
c.1795-16468T>C |
- |
IntronicSNV |
- |
15/15 |
2 |
11-2852568-A-T |
c.1795-16429A>T |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2854043-G-A |
c.1795-14954G>A |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2857194-A-T |
c.1795-11803A>T |
- |
IntronicSNV |
- |
15/15 |
100 |
11-2857194-A-C |
c.1795-11803A>C |
- |
IntronicSNV |
- |
15/15 |
101 |
11-2857233-G-A |
c.1795-11764G>A |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2857297-G-A |
c.1795-11700G>A |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2857897-G-T |
c.1795-11100G>T |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2857897-G-A |
c.1795-11100G>A |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2858295-C-T |
c.1795-10702C>T |
- |
IntronicSNV |
- |
15/15 |
9 |
11-2858440-G-A |
c.1795-10557G>A |
- |
IntronicSNV |
- |
15/15 |
11 |
11-2858440-G-T |
c.1795-10557G>T |
- |
IntronicSNV |
- |
15/15 |
11 |
11-2858546-C-T |
c.1795-10451C>T |
- |
IntronicSNV |
- |
15/15 |
67 |
11-2858636-C-T |
c.1795-10361C>T |
- |
IntronicSNV |
- |
15/15 |
3 |
11-2858800-G-C |
c.1795-10197G>C |
- |
IntronicSNV |
- |
15/15 |
2 |
11-2858800-G-A |
c.1795-10197G>A |
- |
IntronicSNV |
- |
15/15 |
2 |
11-2858800-G-T |
c.1795-10197G>T |
- |
IntronicSNV |
- |
15/15 |
2 |
11-2861578-G-C |
c.1795-7419G>C |
- |
IntronicSNV |
- |
15/15 |
2 |
11-2861578-G-T |
c.1795-7419G>T |
- |
IntronicSNV |
- |
15/15 |
2 |
11-2862945-C-T |
c.1795-6052C>T |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2863820-A-C |
c.1795-5177A>C |
- |
IntronicSNV |
- |
15/15 |
2 |
11-2866248-C-T |
c.1795-2749C>T |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2868005-T-C |
c.1795-992T>C |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2868259-T-C |
c.1795-738T>C |
- |
IntronicSNV |
- |
15/15 |
1 |
11-2869001-C-T |
c.1799C>T |
p.Thr600Met |
Missense |
16/16 |
- |
7 |
11-2869003-C-T |
c.1801C>T |
p.Gln601* |
Nonsense |
16/16 |
- |
1 |
11-2869006-CT-GC |
c.1804_1805delinsGC |
p.Leu602Ala |
Missense |
16/16 |
- |
1 |
11-2869006-C-A |
c.1804C>A |
p.Leu602Met |
Missense |
16/16 |
- |
1 |
11-2869007-T-C |
c.1805T>C |
p.Leu602Pro |
Missense |
16/16 |
- |
1 |
11-2869015-AG-GA |
c.1813_1814delinsGA |
p.Arg605Glu |
Missense |
16/16 |
- |
1 |
11-2869028-T-A |
c.1826T>A |
p.Ile609Asn |
Missense |
16/16 |
- |
1 |
11-2869031-C-A |
c.1829C>A |
p.Thr610Asn |
Missense |
16/16 |
- |
1 |
11-2869033-G-A |
c.1831G>A |
p.Asp611Asn |
Missense |
16/16 |
- |
3 |
11-2869033-G-T |
c.1831G>T |
p.Asp611Tyr |
Missense |
16/16 |
- |
4 |
11-2869044-ACCA-A |
c.1842_1844del |
p.His614del |
InFrameDeletion |
16/16 |
- |
1 |
11-2869057-T-A |
c.1855T>A |
p.Leu619Met |
Missense |
16/16 |
- |
6 |
11-2869060-CA-GC |
c.1858_1859delinsGC |
p.His620Ala |
Missense |
16/16 |
- |
1 |
11-2869062-C-T |
c.1860C>T |
p.His620His |
Synonymous |
16/16 |
- |
1 |
11-2869063-G-A |
c.1861G>A |
p.Gly621Ser |
Missense |
16/16 |
- |
2 |
11-2869078-CGGCAGCGGCGGCCCCCCC-C |
c.1876_1893del |
p.Gly626_Pro631del |
InFrameDeletion |
16/16 |
- |
1 |
11-2869078-G-A |
c.1876G>A |
p.Gly626Ser |
Missense |
16/16 |
- |
4 |
11-2869079-G-A |
c.1877G>A |
p.Gly626Asp |
Missense |
16/16 |
- |
1 |
11-2869079-G-T |
c.1877G>T |
p.Gly626Val |
Missense |
16/16 |
- |
1 |
11-2869079-G-C |
c.1877G>C |
p.Gly626Ala |
Missense |
16/16 |
- |
1 |
11-2869084-G-T |
c.1882G>T |
p.Gly628Cys |
Missense |
16/16 |
- |
3 |
11-2869084-G-C |
c.1882G>C |
p.Gly628Arg |
Missense |
16/16 |
- |
1 |
11-2869084-G-A |
c.1882G>A |
p.Gly628Ser |
Missense |
16/16 |
- |
2 |
11-2869085-G-C |
c.1883G>C |
p.Gly628Ala |
Missense |
16/16 |
- |
1 |
11-2869085-G-A |
c.1883G>A |
p.Gly628Asp |
Missense |
16/16 |
- |
1 |
11-2869085-G-T |
c.1883G>T |
p.Gly628Val |
Missense |
16/16 |
- |
1 |
11-2869087-G-A |
c.1885G>A |
p.Gly629Ser |
Missense |
16/16 |
- |
2 |
11-2869093-CCCC-C |
c.1891_1893del |
p.Pro631del |
InFrameDeletion |
16/16 |
- |
1 |
11-2869095-C-CC |
c.1893dup |
p.Arg632Glnfs*20 |
Frameshift |
16/16 |
- |
2 |
11-2869098-A-C |
c.1896A>C |
p.Arg632Ser |
Missense |
16/16 |
- |
1 |
11-2869126-TG-GC |
c.1924_1925delinsGC |
p.Cys642Ala |
Missense |
16/16 |
- |
1 |
11-2869129-G-A |
c.1927G>A |
p.Gly643Ser |
Missense |
16/16 |
- |
23 |
11-2869129-G-T |
c.1927G>T |
p.Gly643Cys |
Missense |
16/16 |
- |
2 |
11-2869130-G-C |
c.1928G>C |
p.Gly643Ala |
Missense |
16/16 |
- |
1 |
11-2869137-C-T |
c.1935C>T |
p.Gly645Gly |
Synonymous |
16/16 |
- |
1 |
11-2869137-C-G |
c.1935C>G |
p.Gly645Gly |
Synonymous |
16/16 |
- |
1 |
11-2869137-C-A |
c.1935C>A |
p.Gly645Gly |
Synonymous |
16/16 |
- |
1 |
11-2869144-G-A |
c.1942G>A |
p.Val648Ile |
Missense |
16/16 |
- |
6 |
11-2869147-G-A |
c.1945G>A |
p.Asp649Asn |
Missense |
16/16 |
- |
1 |
11-2869186-TA-GC |
c.1984_1985delinsGC |
p.Tyr662Ala |
Missense |
16/16 |
- |
1 |
11-2869188-C-G |
c.1986C>G |
p.Tyr662* |
Nonsense |
16/16 |
- |
3 |
11-2869188-C-T |
c.1986C>T |
p.Tyr662Tyr |
Synonymous |
16/16 |
- |
2 |
11-2869211-G-A |
c.2009G>A |
p.Arg670Lys |
Missense |
16/16 |
- |
2 |
11-2869222-G-A |
c.2020G>A |
p.Glu674Lys |
Missense |
16/16 |
- |
1 |
11-2869452-G-A |
c.*219G>A |
- |
3-UTRSNV |
16/16 |
- |
2 |
11-2869455-C-G |
c.*222C>G |
- |
3-UTRSNV |
16/16 |
- |
1 |
11-2869497-T-C |
c.*264T>C |
- |
3-UTRSNV |
16/16 |
- |
1 |
11-2869538-A-C |
c.*305A>C |
- |
3-UTRSNV |
16/16 |
- |
1 |
11-2869644-C-T |
c.*411C>T |
- |
3-UTRSNV |
16/16 |
- |
2 |
11-2869712-G-A |
c.*479G>A |
- |
3-UTRSNV |
16/16 |
- |
9 |
11-2869715-G-A |
c.*482G>A |
- |
3-UTRSNV |
16/16 |
- |
3 |
11-2870108-A-G |
c.*875A>G |
- |
3-UTRSNV |
16/16 |
- |
13 |
11-2870116-G-C |
c.*883G>C |
- |
3-UTRSNV |
16/16 |
- |
1 |
11-2870165-A-G |
c.*932A>G |
- |
3-UTRSNV |
16/16 |
- |
10 |