KCNQ1 potassium voltage-gated channel subfamily Q member 1

Canonical transcript: NM_000218

1304 unique variant annotations were identified in 1028 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
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