NOD2 nucleotide binding oligomerization domain containing 2

Canonical transcript: NM_022162

720 unique variant annotations were identified in 909 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
16-50730865-T-C c.-290T>C - IntergenicSNV 1/12 - 3
16-50730881-C-T c.-274C>T - IntergenicSNV 1/12 - 1
16-50731022-T-C c.-133T>C - IntergenicSNV 1/12 - 2
16-50731096-G-A c.-59G>A - 5-UTRSNV 1/12 - 5
16-50731096-G-T c.-59G>T - 5-UTRSNV 1/12 - 4
16-50731141-C-T c.-14C>T - 5-UTRSNV 1/12 - 1
16-50731161-G-A c.7G>A p.Glu3Lys Missense 1/12 - 1
16-50731167-G-C c.13G>C p.Gly5Arg Missense 1/12 - 1
16-50731191-G-A c.37G>A p.Glu13Lys Missense 1/12 - 1
16-50731197-AGA-TGG c.43_45delinsTGG p.Arg15Trp Missense 1/12 - 1
16-50731203-AG-GC c.49_50delinsGC p.Ser17Ala Missense 1/12 - 2
16-50731225-C-A c.71C>A p.Pro24Gln Missense 1/12 - 1
16-50731225-C-T c.71C>T p.Pro24Leu Missense 1/12 - 1
16-50731380-C-T c.73+153C>T - IntronicSNV - 1/11 1
16-50732133-G-A c.73+906G>A - IntronicSNV - 1/11 1
16-50733374-G-A c.74-25G>A - IntronicSNV - 1/11 9
16-50733374-G-T c.74-25G>T - IntronicSNV - 1/11 9
16-50733392-T-A c.74-7T>A - IntronicSNV - 1/11 2
16-50733392-T-G c.74-7T>G - IntronicSNV - 1/11 1
16-50733399-G-A c.74G>A p.Gly25Asp Missense 2/12 - 1
16-50733409-G-A c.84G>A p.Met28Ile Missense 2/12 - 1
16-50733409-G-T c.84G>T p.Met28Ile Missense 2/12 - 1
16-50733410-TG-GC c.85_86delinsGC p.Cys29Ala Missense 2/12 - 2
16-50733411-G-A c.86G>A p.Cys29Tyr Missense 2/12 - 1
16-50733411-G-T c.86G>T p.Cys29Phe Missense 2/12 - 1
16-50733414-CG-GT c.89_90delinsGT p.Ser30Cys Missense 2/12 - 1
16-50733414-C-T c.89C>T p.Ser30Leu Missense 2/12 - 1
16-50733418-G-C c.93G>C p.Gln31His Missense 2/12 - 2
16-50733418-G-T c.93G>T p.Gln31His Missense 2/12 - 2
16-50733423-C-A c.98C>A p.Ala33Asp Missense 2/12 - 1
16-50733432-C-G c.107C>G p.Ala36Gly Missense 2/12 - 3
16-50733435-A-T c.110A>T p.Gln37Leu Missense 2/12 - 1
16-50733437-AG-CA c.112_113delinsCA p.Arg38Gln Missense 2/12 - 1
16-50733437-AG-GC c.112_113delinsGC p.Arg38Ala Missense 2/12 - 1
16-50733438-G-T c.113G>T p.Arg38Met Missense 2/12 - 1
16-50733446-C-G c.121C>G p.Leu41Val Missense 2/12 - 1
16-50733447-T-A c.122T>A p.Leu41Gln Missense 2/12 - 1
16-50733454-G-A c.129G>A p.Glu43Glu Synonymous 2/12 - 1
16-50733454-G-C c.129G>C p.Glu43Asp Missense 2/12 - 1
16-50733454-G-T c.129G>T p.Glu43Asp Missense 2/12 - 1
16-50733455-C-T c.130C>T p.Leu44Leu Synonymous 2/12 - 1
16-50733464-T-C c.139T>C p.Ser47Pro Missense 2/12 - 1
16-50733468-G-A c.143G>A p.Gly48Glu Missense 2/12 - 1
16-50733471-C-T c.146C>T p.Ser49Phe Missense 2/12 - 1
16-50733489-G-A c.164G>A p.Ser55Asn Missense 2/12 - 2
16-50733491-GTC-ATG c.166_168delinsATG p.Val56Met Missense 2/12 - 1
16-50733498-A-C c.173A>C p.Asp58Ala Missense 2/12 - 2
16-50733517-G-C c.192G>C p.Glu64Asp Missense 2/12 - 6
16-50733517-G-T c.192G>T p.Glu64Asp Missense 2/12 - 6
16-50733530-G-A c.205G>A p.Glu69Lys Missense 2/12 - 4
16-50733533-GAC-AAG c.208_210delinsAAG p.Asp70Lys Missense 2/12 - 3
16-50733534-A-C c.209A>C p.Asp70Ala Missense 2/12 - 2
16-50733539-G-A c.214G>A p.Glu72Lys Missense 2/12 - 3
16-50733563-C-T c.238C>T p.Pro80Ser Missense 2/12 - 2
16-50733566-C-G c.241C>G p.Leu81Val Missense 2/12 - 2
16-50733575-T-A c.250T>A p.Leu84Met Missense 2/12 - 1
16-50733579-C-A c.254C>A p.Ala85Asp Missense 2/12 - 1
16-50733581-AG-GA c.256_257delinsGA p.Arg86Glu Missense 2/12 - 1
16-50733581-AG-GC c.256_257delinsGC p.Arg86Ala Missense 2/12 - 1
16-50733584-CG-GC c.259_260delinsGC p.Arg87Ala Missense 2/12 - 1
16-50733596-A-G c.271A>G p.Thr91Ala Missense 2/12 - 1
16-50733597-C-T c.272C>T p.Thr91Ile Missense 2/12 - 1
16-50733599-G-A c.274G>A p.Val92Ile Missense 2/12 - 2
16-50733599-G-T c.274G>T p.Val92Phe Missense 2/12 - 2
16-50733611-G-C c.286G>C p.Gly96Arg Missense 2/12 - 1
16-50733636-TC-GG c.311_312delinsGG p.Ile104Arg Missense 2/12 - 2
16-50733638-G-A c.313G>A p.Ala105Thr Missense 2/12 - 1
16-50733639-CG-AC c.314_315delinsAC p.Ala105Asp Missense 2/12 - 1
16-50733640-G-A c.315G>A p.Ala105Ala Synonymous 2/12 - 1
16-50733640-G-C c.315G>C p.Ala105Ala Synonymous 2/12 - 1
16-50733640-G-T c.315G>T p.Ala105Ala Synonymous 2/12 - 1
16-50733641-G-A c.316G>A p.Ala106Thr Missense 2/12 - 2
16-50733642-C-T c.317C>T p.Ala106Val Missense 2/12 - 2
16-50733649-A-T c.324A>T p.Gln108His Missense 2/12 - 1
16-50733657-A-G c.332A>G p.Gln111Arg Missense 2/12 - 1
16-50733660-C-G c.335C>G p.Ala112Gly Missense 2/12 - 1
16-50733660-C-T c.335C>T p.Ala112Val Missense 2/12 - 1
16-50733661-C-T c.336C>T p.Ala112Ala Synonymous 2/12 - 1
16-50733662-G-A c.337G>A p.Asp113Asn Missense 2/12 - 5
16-50733662-G-T c.337G>T p.Asp113Tyr Missense 2/12 - 1
16-50733678-A-G c.353A>G p.Lys118Arg Missense 2/12 - 1
16-50733681-T-C c.356T>C p.Leu119Pro Missense 2/12 - 1
16-50733680-C-T c.355C>T p.Leu119Leu Synonymous 2/12 - 1
16-50733682-G-A c.357G>A p.Leu119Leu Synonymous 2/12 - 1
16-50733682-G-C c.357G>C p.Leu119Leu Synonymous 2/12 - 1
16-50733682-G-T c.357G>T p.Leu119Leu Synonymous 2/12 - 1
16-50733693-G-T c.368G>T p.Trp123Leu Missense 2/12 - 1
16-50733699-C-T c.374C>T p.Pro125Leu Missense 2/12 - 1
16-50733702-A-G c.377A>G p.His126Arg Missense 2/12 - 1
16-50733705-C-T c.380C>T p.Ser127Leu Missense 2/12 - 1
16-50733706-G-A c.381G>A p.Ser127Ser Synonymous 2/12 - 1
16-50733720-G-A c.395G>A p.Arg132Gln Missense 2/12 - 1
16-50733730-G-C c.405G>C p.Gln135His Missense 2/12 - 1
16-50733730-G-T c.405G>T p.Gln135His Missense 2/12 - 1
16-50733732-G-T c.407G>T p.Ser136Ile Missense 2/12 - 1
16-50733738-G-A c.413G>A p.Arg138Gln Missense 2/12 - 3
16-50733738-G-T c.413G>T p.Arg138Leu Missense 2/12 - 1
16-50733743-G-A c.418G>A p.Ala140Thr Missense 2/12 - 6
16-50733744-C-T c.419C>T p.Ala140Val Missense 2/12 - 1
16-50733746-AT-GC c.421_422delinsGC p.Ile141Ala Missense 2/12 - 1
16-50733752-A-T c.427A>T p.Arg143Trp Missense 2/12 - 1
16-50733756-G-T c.431G>T p.Arg144Met Missense 2/12 - 1
16-50733759-T-C c.434T>C p.Leu145Pro Missense 2/12 - 3
16-50733777-A-T c.452A>T p.Asn151Ile Missense 2/12 - 1
16-50733779-A-C c.454A>C p.Met152Leu Missense 2/12 - 1
16-50733779-A-T c.454A>T p.Met152Leu Missense 2/12 - 1
16-50733783-T-G c.458T>G p.Leu153Arg Missense 2/12 - 1
16-50733785-G-A c.460G>A p.Asp154Asn Missense 2/12 - 2
16-50733786-A-C c.461A>C p.Asp154Ala Missense 2/12 - 1
16-50733788-C-A c.463C>A p.Leu155Met Missense 2/12 - 1
16-50733791-G-C c.466G>C p.Ala156Pro Missense 2/12 - 1
16-50733791-G-T c.466G>T p.Ala156Ser Missense 2/12 - 1
16-50733794-T-A c.469T>A p.Trp157Arg Missense 2/12 - 2
16-50733794-T-C c.469T>C p.Trp157Arg Missense 2/12 - 2
16-50733800-C-T c.475C>T p.Arg159Trp Missense 2/12 - 1
16-50733806-T-A c.481T>A p.Phe161Ile Missense 2/12 - 1
16-50733808-C-T c.483C>T p.Phe161Phe Synonymous 2/12 - 1
16-50733809-G-A c.484G>A p.Val162Ile Missense 2/12 - 1
16-50733815-C-A c.490C>A p.Gln164Lys Missense 2/12 - 1
16-50733817-G-A c.492G>A p.Gln164Gln Synonymous 2/12 - 1
16-50733821-G-A c.496G>A p.Glu166Lys Missense 2/12 - 2
16-50733829-T-C c.504T>C p.Asp168Asp Synonymous 2/12 - 1
16-50733836-AG-GA c.511_512delinsGA p.Arg171Glu Missense 2/12 - 2
16-50733842-C-T c.517C>T p.Pro173Ser Missense 2/12 - 1
16-50733845-A-G c.520A>G p.Ile174Val Missense 2/12 - 1
16-50733846-T-A c.521T>A p.Ile174Asn Missense 2/12 - 1
16-50733854-C-T c.529C>T p.Pro177Ser Missense 2/12 - 1
16-50733855-C-A c.530C>A p.Pro177Gln Missense 2/12 - 1
16-50733855-C-T c.530C>T p.Pro177Leu Missense 2/12 - 1
16-50733859-C-A c.534C>A p.Ser178Ser Synonymous 2/12 - 29
16-50733859-C-G c.534C>G p.Ser178Ser Synonymous 2/12 - 29
16-50733859-C-T c.534C>T p.Ser178Ser Synonymous 2/12 - 7
16-50733864-G-A c.539G>A p.Arg180Lys Missense 2/12 - 1
16-50733969-A-G c.540+104A>G - IntronicSNV - 2/11 13
16-50733969-A-T c.540+104A>T - IntronicSNV - 2/11 13
16-50734033-G-A c.540+168G>A - IntronicSNV - 2/11 10
16-50735941-C-T c.540+2076C>T - IntronicSNV - 2/11 2
16-50736656-A-G c.540+2791A>G - IntronicSNV - 2/11 11
16-50737498-C-G c.540+3633C>G - IntronicSNV - 2/11 2
16-50737498-C-T c.540+3633C>T - IntronicSNV - 2/11 2
16-50737980-A-G c.541-3786A>G - IntronicSNV - 2/11 19
16-50738547-T-C c.541-3219T>C - IntronicSNV - 2/11 2
16-50738830-G-A c.541-2936G>A - IntronicSNV - 2/11 2
16-50739105-G-A c.541-2661G>A - IntronicSNV - 2/11 8
16-50739105-G-C c.541-2661G>C - IntronicSNV - 2/11 8
16-50739450-G-A c.541-2316G>A - IntronicSNV - 2/11 1
16-50739582-C-G c.541-2184C>G - IntronicSNV - 2/11 44
16-50740764-C-G c.541-1002C>G - IntronicSNV - 2/11 2
16-50740764-C-T c.541-1002C>T - IntronicSNV - 2/11 2
16-50741186-C-A c.541-580C>A - IntronicSNV - 2/11 3
16-50741186-C-T c.541-580C>T - IntronicSNV - 2/11 3
16-50741462-A-C c.541-304A>C - IntronicSNV - 2/11 15
16-50741767-C-G c.542C>G p.Ala181Gly Missense 3/12 - 1
16-50741769-AG-GC c.544_545delinsGC p.Arg182Ala Missense 3/12 - 2
16-50741772-AG-CC c.547_548delinsCC p.Arg183Pro Missense 3/12 - 1
16-50741787-G-C c.562G>C p.Ala188Pro Missense 3/12 - 1
16-50741791-C-T c.566C>T p.Thr189Met Missense 3/12 - 8
16-50741800-C-T c.575C>T p.Ala192Val Missense 3/12 - 4
16-50741814-G-A c.589G>A p.Ala197Thr Missense 3/12 - 10
16-50741815-C-T c.590C>T p.Ala197Val Missense 3/12 - 1
16-50741836-A-G c.611A>G p.Gln204Arg Missense 3/12 - 1
16-50741842-T-G c.617T>G p.Leu206* Nonsense 3/12 - 1
16-50741847-G-A c.622G>A p.Val208Ile Missense 3/12 - 1
16-50741847-G-T c.622G>T p.Val208Phe Missense 3/12 - 1
16-50741848-T-C c.623T>C p.Val208Ala Missense 3/12 - 1
16-50741857-C-A c.632C>A p.Ala211Asp Missense 3/12 - 1
16-50741858-C-T c.633C>T p.Ala211Ala Synonymous 3/12 - 3
16-50741862-C-T c.637C>T p.Pro213Ser Missense 3/12 - 1
16-50741868-G-A c.643G>A p.Glu215Lys Missense 3/12 - 1
16-50742062-G-A c.646+191G>A - IntronicSNV - 3/11 1
16-50742681-G-A c.646+810G>A - IntronicSNV - 3/11 1
16-50742681-G-T c.646+810G>T - IntronicSNV - 3/11 1
16-50742938-G-A c.646+1067G>A - IntronicSNV - 3/11 1
16-50743331-G-A c.647-1138G>A - IntronicSNV - 3/11 8
16-50743919-C-T c.647-550C>T - IntronicSNV - 3/11 3
16-50744420-C-T c.647-49C>T - IntronicSNV - 3/11 1
16-50744421-G-A c.647-48G>A - IntronicSNV - 3/11 1
16-50744472-C-G c.650C>G p.Ala217Gly Missense 4/12 - 1
16-50744479-C-T c.657C>T p.Cys219Cys Synonymous 4/12 - 1
16-50744492-G-A c.670G>A p.Ala224Thr Missense 4/12 - 1
16-50744499-T-G c.677T>G p.Leu226Arg Missense 4/12 - 1
16-50744501-GAGGACCACGGTGTCTG-G c.679_694del p.Arg227Leufs*145 Frameshift 4/12 - 1
16-50744504-A-T c.682A>T p.Thr228Ser Missense 4/12 - 1
16-50744505-C-G c.683C>G p.Thr228Ser Missense 4/12 - 1
16-50744516-G-C c.694G>C p.Ala232Pro Missense 4/12 - 1
16-50744523-C-A c.701C>A p.Ser234Tyr Missense 4/12 - 1
16-50744525-C-T c.703C>T p.Arg235Cys Missense 4/12 - 3
16-50744526-G-A c.704G>A p.Arg235His Missense 4/12 - 1
16-50744536-T-G c.714T>G p.Ser238Arg Missense 4/12 - 1
16-50744542-T-A c.720T>A p.Tyr240* Nonsense 4/12 - 1
16-50744542-T-G c.720T>G p.Tyr240* Nonsense 4/12 - 1
16-50744556-C-T c.734C>T p.Thr245Met Missense 4/12 - 1
16-50744565-T-G c.743T>G p.Leu248Arg Missense 4/12 - 11
16-50744582-G-A c.760G>A p.Glu254Lys Missense 4/12 - 1
16-50744588-G-A c.766G>A p.Val256Ile Missense 4/12 - 1
16-50744597-G-A c.775G>A p.Val259Ile Missense 4/12 - 1
16-50744602-G-A c.780G>A p.Trp260* Nonsense 4/12 - 1
16-50744603-G-C c.781G>C p.Ala261Pro Missense 4/12 - 1
16-50744603-G-T c.781G>T p.Ala261Ser Missense 4/12 - 1
16-50744618-G-A c.796G>A p.Ala266Thr Missense 4/12 - 2
16-50744619-C-T c.797C>T p.Ala266Val Missense 4/12 - 1
16-50744624-C-A c.802C>A p.Pro268Thr Missense 4/12 - 40
16-50744624-C-T c.802C>T p.Pro268Ser Missense 4/12 - 112
16-50744637-G-C c.815G>C p.Ser272Thr Missense 4/12 - 1
16-50744638-C-T c.816C>T p.Ser272Ser Synonymous 4/12 - 1
16-50744642-GC-TG c.820_821delinsTG p.Ala274Cys Missense 4/12 - 1
16-50744648-C-A c.826C>A p.Leu276Met Missense 4/12 - 1
16-50744657-G-A c.835G>A p.Glu279Lys Missense 4/12 - 1
16-50744658-A-C c.836A>C p.Glu279Ala Missense 4/12 - 1
16-50744661-A-C c.839A>C p.Glu280Ala Missense 4/12 - 1
16-50744673-C-G c.851C>G p.Thr284Ser Missense 4/12 - 1
16-50744673-C-T c.851C>T p.Thr284Ile Missense 4/12 - 1
16-50744679-G-C c.857G>C p.Gly286Ala Missense 4/12 - 2
16-50744681-C-T c.859C>T p.His287Tyr Missense 4/12 - 1
16-50744684-C-A c.862C>A p.Leu288Ile Missense 4/12 - 1
16-50744684-C-T c.862C>T p.Leu288Phe Missense 4/12 - 1
16-50744688-A-G c.866A>G p.Asn289Ser Missense 4/12 - 18
16-50744693-G-A c.871G>A p.Asp291Asn Missense 4/12 - 9
16-50744695-T-G c.873T>G p.Asp291Glu Missense 4/12 - 1
16-50744702-A-T c.880A>T p.Thr294Ser Missense 4/12 - 3
16-50744703-C-G c.881C>G p.Thr294Ser Missense 4/12 - 3
16-50744704-T-A c.882T>A p.Thr294Thr Synonymous 4/12 - 1
16-50744704-T-C c.882T>C p.Thr294Thr Synonymous 4/12 - 1
16-50744704-T-G c.882T>G p.Thr294Thr Synonymous 4/12 - 1
16-50744705-G-A c.883G>A p.Val295Met Missense 4/12 - 1
16-50744706-T-A c.884T>A p.Val295Glu Missense 4/12 - 1
16-50744717-G-C c.895G>C p.Gly299Arg Missense 4/12 - 1
16-50744719-T-A c.897T>A p.Gly299Gly Synonymous 4/12 - 1
16-50744719-T-C c.897T>C p.Gly299Gly Synonymous 4/12 - 1
16-50744719-T-G c.897T>G p.Gly299Gly Synonymous 4/12 - 1
16-50744724-C-T c.902C>T p.Ala301Val Missense 4/12 - 2
16-50744725-G-A c.903G>A p.Ala301Ala Synonymous 4/12 - 1
16-50744733-G-A c.911G>A p.Gly304Asp Missense 4/12 - 1
16-50744736-A-G c.914A>G p.Lys305Arg Missense 4/12 - 4
16-50744737-G-C c.915G>C p.Lys305Asn Missense 4/12 - 1
16-50744737-G-T c.915G>T p.Lys305Asn Missense 4/12 - 1
16-50744741-A-G c.919A>G p.Thr307Ala Missense 4/12 - 1
16-50744747-C-A c.925C>A p.Leu309Met Missense 4/12 - 1
16-50744753-C-A c.931C>A p.Arg311Arg Synonymous 4/12 - 4
16-50744753-C-T c.931C>T p.Arg311Trp Missense 4/12 - 14
16-50744760-A-T c.938A>T p.His313Leu Missense 4/12 - 1
16-50744791-G-C c.969G>C p.Gln323His Missense 4/12 - 1
16-50744791-G-T c.969G>T p.Gln323His Missense 4/12 - 1
16-50744820-G-A c.998G>A p.Cys333Tyr Missense 4/12 - 1
16-50744822-CG-GA c.1000_1001delinsGA p.Arg334Glu Missense 4/12 - 1
16-50744822-CG-GC c.1000_1001delinsGC p.Arg334Ala Missense 4/12 - 1
16-50744822-C-T c.1000C>T p.Arg334Trp Missense 4/12 - 74
16-50744823-G-A c.1001G>A p.Arg334Gln Missense 4/12 - 69
16-50744828-C-A c.1006C>A p.Leu336Met Missense 4/12 - 1
16-50744838-T-A c.1016T>A p.Met339Lys Missense 4/12 - 1
16-50744842-C-T c.1020C>T p.Ala340Ala Synonymous 4/12 - 1
16-50744846-C-T c.1024C>T p.Pro342Ser Missense 4/12 - 1
16-50744850-T-C c.1028T>C p.Leu343Pro Missense 4/12 - 1
16-50744852-T-A c.1030T>A p.Ser344Thr Missense 4/12 - 1
16-50744854-T-A c.1032T>A p.Ser344Ser Synonymous 4/12 - 1
16-50744854-T-C c.1032T>C p.Ser344Ser Synonymous 4/12 - 1
16-50744854-T-G c.1032T>G p.Ser344Ser Synonymous 4/12 - 1
16-50744864-C-G c.1042C>G p.Leu348Val Missense 4/12 - 4
16-50744867-C-T c.1045C>T p.Leu349Phe Missense 4/12 - 3
16-50744873-G-A c.1051G>A p.Glu351Lys Missense 4/12 - 1
16-50744877-A-G c.1055A>G p.His352Arg Missense 4/12 - 7
16-50744880-G-A c.1058G>A p.Cys353Tyr Missense 4/12 - 1
16-50744883-G-A c.1061G>A p.Cys354Tyr Missense 4/12 - 1
16-50744889-C-T c.1067C>T p.Pro356Leu Missense 4/12 - 1
16-50744892-A-C c.1070A>C p.Asp357Ala Missense 4/12 - 6
16-50744908-C-A c.1086C>A p.Asp362Glu Missense 4/12 - 1
16-50744908-C-G c.1086C>G p.Asp362Glu Missense 4/12 - 1
16-50744909-A-T c.1087A>T p.Ile363Phe Missense 4/12 - 4
16-50744930-C-T c.1108C>T p.His370Tyr Missense 4/12 - 3
16-50744939-C-T c.1117C>T p.Arg373Cys Missense 4/12 - 4
16-50744940-G-A c.1118G>A p.Arg373His Missense 4/12 - 1
16-50744958-A-C c.1136A>C p.Asp379Ala Missense 4/12 - 4
16-50744960-G-C c.1138G>C p.Gly380Arg Missense 4/12 - 1
16-50744966-G-A c.1144G>A p.Asp382Asn Missense 4/12 - 1
16-50744968-C-G c.1146C>G p.Asp382Glu Missense 4/12 - 10
16-50744969-G-A c.1147G>A p.Glu383Lys Missense 4/12 - 20
16-50744969-G-C c.1147G>C p.Glu383Gln Missense 4/12 - 1
16-50744970-A-C c.1148A>C p.Glu383Ala Missense 4/12 - 1
16-50744970-A-G c.1148A>G p.Glu383Gly Missense 4/12 - 5
16-50744971-G-C c.1149G>C p.Glu383Asp Missense 4/12 - 3
16-50744971-G-T c.1149G>T p.Glu383Asp Missense 4/12 - 3
16-50744988-C-G c.1166C>G p.Thr389Arg Missense 4/12 - 1
16-50744988-C-T c.1166C>T p.Thr389Met Missense 4/12 - 1
16-50744991-A-T c.1169A>T p.Asp390Val Missense 4/12 - 3
16-50744993-C-T c.1171C>T p.Arg391Cys Missense 4/12 - 1
16-50744994-G-A c.1172G>A p.Arg391His Missense 4/12 - 2
16-50744999-C-T c.1177C>T p.Arg393Cys Missense 4/12 - 1
16-50745002-C-A c.1180C>A p.His394Asn Missense 4/12 - 1
16-50745009-C-T c.1187C>T p.Ser396Phe Missense 4/12 - 1
16-50745012-C-T c.1190C>T p.Pro397Leu Missense 4/12 - 2
16-50745016-C-T c.1194C>T p.Thr398Thr Synonymous 4/12 - 1
16-50745023-A-T c.1201A>T p.Thr401Ser Missense 4/12 - 1
16-50745024-C-G c.1202C>G p.Thr401Ser Missense 4/12 - 1
16-50745024-C-T c.1202C>T p.Thr401Ile Missense 4/12 - 1
16-50745038-C-A c.1216C>A p.Leu406Met Missense 4/12 - 1
16-50745044-T-C c.1222T>C p.Phe408Leu Missense 4/12 - 1
16-50745046-C-A c.1224C>A p.Phe408Leu Missense 4/12 - 1
16-50745046-C-G c.1224C>G p.Phe408Leu Missense 4/12 - 1
16-50745049-C-A c.1227C>A p.Asn409Lys Missense 4/12 - 1
16-50745059-G-A c.1237G>A p.Gly413Ser Missense 4/12 - 1
16-50745063-A-G c.1241A>G p.Asn414Ser Missense 4/12 - 3
16-50745065-C-G c.1243C>G p.Leu415Val Missense 4/12 - 1
16-50745066-T-C c.1244T>C p.Leu415Pro Missense 4/12 - 1
16-50745081-G-T c.1259G>T p.Arg420Leu Missense 4/12 - 1
16-50745098-CG-GC c.1276_1277delinsGC p.Arg426Ala Missense 4/12 - 1
16-50745099-G-A c.1277G>A p.Arg426His Missense 4/12 - 2
16-50745103-G-A c.1281G>A p.Pro427Pro Synonymous 4/12 - 1
16-50745103-G-C c.1281G>C p.Pro427Pro Synonymous 4/12 - 1
16-50745103-G-T c.1281G>T p.Pro427Pro Synonymous 4/12 - 1
16-50745105-C-G c.1283C>G p.Ala428Gly Missense 4/12 - 1
16-50745107-G-A c.1285G>A p.Ala429Thr Missense 4/12 - 2
16-50745114-C-T c.1292C>T p.Ser431Leu Missense 4/12 - 19
16-50745117-C-T c.1295C>T p.Ala432Val Missense 4/12 - 5
16-50745124-C-T c.1302C>T p.Leu434Leu Synonymous 4/12 - 1
16-50745137-C-A c.1315C>A p.Arg439Ser Missense 4/12 - 1
16-50745137-C-T c.1315C>T p.Arg439Cys Missense 4/12 - 1
16-50745138-G-A c.1316G>A p.Arg439His Missense 4/12 - 1
16-50745138-G-T c.1316G>T p.Arg439Leu Missense 4/12 - 1
16-50745143-G-A c.1321G>A p.Glu441Lys Missense 4/12 - 5
16-50745146-TT-GC c.1324_1325delinsGC p.Phe442Ala Missense 4/12 - 1
16-50745149-A-G c.1327A>G p.Asn443Asp Missense 4/12 - 1
16-50745153-T-C c.1331T>C p.Leu444Pro Missense 4/12 - 1
16-50745164-T-C c.1342T>C p.Ser448Pro Missense 4/12 - 1
16-50745170-C-A c.1348C>A p.Gln450Lys Missense 4/12 - 1
16-50745170-CA-GC c.1348_1349delinsGC p.Gln450Ala Missense 4/12 - 1
16-50745179-G-A c.1357G>A p.Glu453Lys Missense 4/12 - 1
16-50745180-A-C c.1358A>C p.Glu453Ala Missense 4/12 - 1
16-50745188-C-T c.1366C>T p.Leu456Leu Synonymous 4/12 - 1
16-50745190-G-A c.1368G>A p.Leu456Leu Synonymous 4/12 - 1
16-50745190-G-C c.1368G>C p.Leu456Leu Synonymous 4/12 - 1
16-50745190-G-T c.1368G>T p.Leu456Leu Synonymous 4/12 - 1
16-50745199-C-A c.1377C>A p.Arg459Arg Synonymous 4/12 - 63
16-50745199-C-G c.1377C>G p.Arg459Arg Synonymous 4/12 - 11
16-50745199-C-T c.1377C>T p.Arg459Arg Synonymous 4/12 - 64
16-50745209-C-G c.1387C>G p.Pro463Ala Missense 4/12 - 1
16-50745212-G-A c.1390G>A p.Gly464Arg Missense 4/12 - 2
16-50745212-G-T c.1390G>T p.Gly464Trp Missense 4/12 - 7
16-50745227-C-T c.1405C>T p.Leu469Phe Missense 4/12 - 25
16-50745233-C-T c.1411C>T p.Arg471Cys Missense 4/12 - 11
16-50745245-GA-AG c.1423_1424delinsAG p.Glu475Arg Missense 4/12 - 1
16-50745246-A-C c.1424A>C p.Glu475Ala Missense 4/12 - 1
16-50745260-C-T c.1438C>T p.His480Tyr Missense 4/12 - 1
16-50745261-A-G c.1439A>G p.His480Arg Missense 4/12 - 1
16-50745263-G-A c.1441G>A p.Gly481Ser Missense 4/12 - 1
16-50745264-G-A c.1442G>A p.Gly481Asp Missense 4/12 - 10
16-50745264-G-C c.1442G>C p.Gly481Ala Missense 4/12 - 1
16-50745270-G-A c.1448G>A p.Cys483Tyr Missense 4/12 - 1
16-50745275-C-T c.1453C>T p.Leu485Leu Synonymous 4/12 - 1
16-50745291-G-T c.1469G>T p.Trp490Leu Missense 4/12 - 4
16-50745293-A-C c.1471A>C p.Met491Leu Missense 4/12 - 2
16-50745293-A-T c.1471A>T p.Met491Leu Missense 4/12 - 2
16-50745306-G-A c.1484G>A p.Cys495Tyr Missense 4/12 - 11
16-50745309-A-T c.1487A>T p.His496Leu Missense 4/12 - 9
16-50745311-C-A c.1489C>A p.Gln497Lys Missense 4/12 - 1
16-50745311-CA-GC c.1489_1490delinsGC p.Gln497Ala Missense 4/12 - 1
16-50745311-C-G c.1489C>G p.Gln497Glu Missense 4/12 - 1
16-50745315-A-G c.1493A>G p.Glu498Gly Missense 4/12 - 2
16-50745315-A-T c.1493A>T p.Glu498Val Missense 4/12 - 1
16-50745315-GAACTGT-G c.1493_1498del p.Glu498_Leu500delinsVal MultiAAMissense 4/12 - 1
16-50745316-A-G c.1494A>G p.Glu498Glu Synonymous 4/12 - 1
16-50745331-G-A c.1509G>A p.Glu503Glu Synonymous 4/12 - 1
16-50745332-G-A c.1510G>A p.Gly504Arg Missense 4/12 - 1
16-50745332-G-C c.1510G>C p.Gly504Arg Missense 4/12 - 1
16-50745335-GGGG-G c.1513_1515del p.Gly505del InFrameDeletion 4/12 - 1
16-50745337-G-GG c.1515dup p.Ser506Valfs*73 Frameshift 4/12 - 1
16-50745341-C-T c.1519C>T p.Pro507Ser Missense 4/12 - 1
16-50745351-C-A c.1529C>A p.Thr510Asn Missense 4/12 - 1
16-50745356-G-T c.1534G>T p.Asp512Tyr Missense 4/12 - 2
16-50745357-A-T c.1535A>T p.Asp512Val Missense 4/12 - 2
16-50745359-AT-GC c.1537_1538delinsGC p.Met513Ala Missense 4/12 - 1
16-50745360-T-C c.1538T>C p.Met513Thr Missense 4/12 - 9
16-50745365-C-A c.1543C>A p.Leu515Met Missense 4/12 - 1
16-50745371-A-G c.1549A>G p.Ile517Val Missense 4/12 - 1
16-50745380-C-T c.1558C>T p.His520Tyr Missense 4/12 - 3
16-50745384-T-C c.1562T>C p.Phe521Ser Missense 4/12 - 1
16-50745398-CACC-C c.1576_1578del p.Thr526del InFrameDeletion 4/12 - 1
16-50745403-C-A c.1581C>A p.Pro527Pro Synonymous 4/12 - 1
16-50745403-C-G c.1581C>G p.Pro527Pro Synonymous 4/12 - 1
16-50745403-C-T c.1581C>T p.Pro527Pro Synonymous 4/12 - 1
16-50745422-G-T c.1600G>T p.Gly534Cys Missense 4/12 - 1
16-50745425-C-A c.1603C>A p.Leu535Met Missense 4/12 - 1
16-50745443-C-T c.1621C>T p.Arg541Trp Missense 4/12 - 2
16-50745444-G-A c.1622G>A p.Arg541Gln Missense 4/12 - 1
16-50745450-G-A c.1628G>A p.Arg543His Missense 4/12 - 1
16-50745450-GC-AA c.1628_1629delinsAA p.Arg543Gln Missense 4/12 - 1
16-50745457-C-G c.1635C>G p.Pro545Pro Synonymous 4/12 - 2
16-50745459-C-G c.1637C>G p.Thr546Ser Missense 4/12 - 1
16-50745470-C-G c.1648C>G p.Leu550Val Missense 4/12 - 4
16-50745470-CT-TC c.1648_1649delinsTC p.Leu550Ser Missense 4/12 - 1
16-50745491-G-C c.1669G>C p.Gly557Arg Missense 4/12 - 1
16-50745504-G-C c.1682G>C p.Cys561Ser Missense 4/12 - 1
16-50745510-A-C c.1688A>C p.Tyr563Ser Missense 4/12 - 2
16-50745511-C-T c.1689C>T p.Tyr563Tyr Synonymous 4/12 - 1
16-50745518-T-C c.1696T>C p.Ser566Pro Missense 4/12 - 1
16-50745525-A-T c.1703A>T p.Gln568Leu Missense 4/12 - 1
16-50745530-C-A c.1708C>A p.Leu570Ile Missense 4/12 - 1
16-50745572-T-A c.1750T>A p.Phe584Ile Missense 4/12 - 1
16-50745581-CGT-TGG c.1759_1761delinsTGG p.Arg587Trp Missense 4/12 - 1
16-50745581-C-T c.1759C>T p.Arg587Cys Missense 4/12 - 11
16-50745582-G-A c.1760G>A p.Arg587His Missense 4/12 - 1
16-50745583-T-A c.1761T>A p.Arg587Arg Synonymous 4/12 - 14
16-50745583-T-C c.1761T>C p.Arg587Arg Synonymous 4/12 - 14
16-50745583-T-G c.1761T>G p.Arg587Arg Synonymous 4/12 - 37
16-50745591-G-A c.1769G>A p.Gly590Asp Missense 4/12 - 1
16-50745591-G-C c.1769G>C p.Gly590Ala Missense 4/12 - 3
16-50745596-G-A c.1774G>A p.Val592Met Missense 4/12 - 1
16-50745610-G-A c.1788G>A p.Thr596Thr Synonymous 4/12 - 1
16-50745610-G-C c.1788G>C p.Thr596Thr Synonymous 4/12 - 1
16-50745610-G-T c.1788G>T p.Thr596Thr Synonymous 4/12 - 1
16-50745614-C-T c.1792C>T p.Pro598Ser Missense 4/12 - 1
16-50745617-C-A c.1795C>A p.Leu599Met Missense 4/12 - 1
16-50745620-G-A c.1798G>A p.Glu600Lys Missense 4/12 - 1
16-50745621-A-C c.1799A>C p.Glu600Ala Missense 4/12 - 2
16-50745629-CA-GC c.1807_1808delinsGC p.His603Ala Missense 4/12 - 2
16-50745629-C-G c.1807C>G p.His603Asp Missense 4/12 - 1
16-50745630-A-G c.1808A>G p.His603Arg Missense 4/12 - 1
16-50745635-A-C c.1813A>C p.Thr605Pro Missense 4/12 - 6
16-50745636-C-A c.1814C>A p.Thr605Asn Missense 4/12 - 4
16-50745643-G-C c.1821G>C p.Gln607His Missense 4/12 - 1
16-50745643-G-T c.1821G>T p.Gln607His Missense 4/12 - 1
16-50745654-C-T c.1832C>T p.Ala611Val Missense 4/12 - 1
16-50745655-C-T c.1833C>T p.Ala611Ala Synonymous 4/12 - 7
16-50745656-G-A c.1834G>A p.Ala612Thr Missense 4/12 - 11
16-50745656-GCG-AAC c.1834_1836delinsAAC p.Ala612Asn Missense 4/12 - 1
16-50745656-G-T c.1834G>T p.Ala612Ser Missense 4/12 - 5
16-50745657-C-T c.1835C>T p.Ala612Val Missense 4/12 - 5
16-50745661-C-T c.1839C>T p.Phe613Phe Synonymous 4/12 - 1
16-50745668-GC-AT c.1846_1847delinsAT p.Ala616Ile Missense 4/12 - 1
16-50745669-C-A c.1847C>A p.Ala616Glu Missense 4/12 - 1
16-50745707-C-T c.1885C>T p.Leu629Phe Missense 4/12 - 1
16-50745713-A-T c.1891A>T p.Asn631Tyr Missense 4/12 - 1
16-50745722-A-T c.1900A>T p.Arg634Trp Missense 4/12 - 1
16-50745730-C-T c.1908C>T p.Gly636Gly Synonymous 4/12 - 1
16-50745732-A-T c.1910A>T p.Asn637Ile Missense 4/12 - 1
16-50745737-C-T c.1915C>T p.Pro639Ser Missense 4/12 - 1
16-50745748-G-C c.1926G>C p.Arg642Ser Missense 4/12 - 1
16-50745748-G-T c.1926G>T p.Arg642Ser Missense 4/12 - 1
16-50745751-C-T c.1929C>T p.Leu643Leu Synonymous 4/12 - 1
16-50745759-C-T c.1937C>T p.Thr646Met Missense 4/12 - 1
16-50745765-G-A c.1943G>A p.Cys648Tyr Missense 4/12 - 1
16-50745772-G-C c.1950G>C p.Gln650His Missense 4/12 - 1
16-50745788-G-T c.1966G>T p.Asp656Tyr Missense 4/12 - 1
16-50745797-G-A c.1975G>A p.Val659Met Missense 4/12 - 1
16-50745803-G-C c.1981G>C p.Ala661Pro Missense 4/12 - 3
16-50745815-A-G c.1993A>G p.Lys665Glu Missense 4/12 - 1
16-50745820-C-A c.1998C>A p.Ala666Ala Synonymous 4/12 - 1
16-50745820-C-G c.1998C>G p.Ala666Ala Synonymous 4/12 - 1
16-50745820-C-T c.1998C>T p.Ala666Ala Synonymous 4/12 - 1
16-50745821-G-A c.1999G>A p.Glu667Lys Missense 4/12 - 3
16-50745825-CG-AT c.2003_2004delinsAT p.Pro668His Missense 4/12 - 1
16-50745825-C-T c.2003C>T p.Pro668Leu Missense 4/12 - 1
16-50745828-A-G c.2006A>G p.His669Arg Missense 4/12 - 1
16-50745830-AA-GC c.2008_2009delinsGC p.Asn670Ala Missense 4/12 - 1
16-50745832-C-A c.2010C>A p.Asn670Lys Missense 4/12 - 9
16-50745839-A-T c.2017A>T p.Ile673Phe Missense 4/12 - 1
16-50745851-T-C c.2029T>C p.Phe677Leu Missense 4/12 - 1
16-50745853-C-A c.2031C>A p.Phe677Leu Missense 4/12 - 1
16-50745853-C-G c.2031C>G p.Phe677Leu Missense 4/12 - 1
16-50745860-G-A c.2038G>A p.Gly680Arg Missense 4/12 - 1
16-50745860-G-C c.2038G>C p.Gly680Arg Missense 4/12 - 1
16-50745860-G-T c.2038G>T p.Gly680Trp Missense 4/12 - 1
16-50745868-G-T c.2046G>T p.Leu682Phe Missense 4/12 - 1
16-50745869-T-A c.2047T>A p.Ser683Thr Missense 4/12 - 1
16-50745872-C-T c.2050C>T p.Arg684Trp Missense 4/12 - 6
16-50745873-G-A c.2051G>A p.Arg684Gln Missense 4/12 - 2
16-50745882-G-T c.2060G>T p.Trp687Leu Missense 4/12 - 1
16-50745890-C-A c.2068C>A p.Leu690Met Missense 4/12 - 1
16-50745891-T-C c.2069T>C p.Leu690Pro Missense 4/12 - 1
16-50745898-G-C c.2076G>C p.Glu692Asp Missense 4/12 - 1
16-50745913-G-C c.2091G>C p.Glu697Asp Missense 4/12 - 1
16-50745913-G-T c.2091G>T p.Glu697Asp Missense 4/12 - 1
16-50745923-C-T c.2101C>T p.Leu701Phe Missense 4/12 - 1
16-50745926-C-A c.2104C>A p.Arg702Arg Synonymous 4/12 - 4
16-50745926-CG-AC c.2104_2105delinsAC p.Arg702Thr Missense 4/12 - 2
16-50745926-CGG-AGC c.2104_2106delinsAGC p.Arg702Ser Missense 4/12 - 1
16-50745926-C-T c.2104C>T p.Arg702Trp Missense 4/12 - 684
16-50745928-G-A c.2106G>A p.Arg702Arg Synonymous 4/12 - 4
16-50745928-G-C c.2106G>C p.Arg702Arg Synonymous 4/12 - 4
16-50745928-G-T c.2106G>T p.Arg702Arg Synonymous 4/12 - 4
16-50745927-G-A c.2105G>A p.Arg702Gln Missense 4/12 - 1
16-50745929-C-A c.2107C>A p.Arg703Ser Missense 4/12 - 1
16-50745929-C-G c.2107C>G p.Arg703Gly Missense 4/12 - 7
16-50745929-C-T c.2107C>T p.Arg703Cys Missense 4/12 - 26
16-50745933-A-G c.2111A>G p.Gln704Arg Missense 4/12 - 1
16-50745936-C-G c.2114C>G p.Ala705Gly Missense 4/12 - 1
16-50745942-C-T c.2120C>T p.Ala707Val Missense 4/12 - 1
16-50745944-CGC-TGG c.2122_2124delinsTGG p.Arg708Trp Missense 4/12 - 1
16-50745945-G-A c.2123G>A p.Arg708His Missense 4/12 - 5
16-50745949-G-A c.2127G>A p.Trp709* Nonsense 4/12 - 1
16-50745959-C-T c.2137C>T p.Arg713Cys Missense 4/12 - 4
16-50745960-G-A c.2138G>A p.Arg713His Missense 4/12 - 2
16-50745962-A-T c.2140A>T p.Ser714Cys Missense 4/12 - 1
16-50745963-G-A c.2141G>A p.Ser714Asn Missense 4/12 - 1
16-50745965-C-A c.2143C>A p.Leu715Ile Missense 4/12 - 1
16-50745969-G-A c.2147G>A p.Arg716His Missense 4/12 - 1
16-50745977-T-A c.2155T>A p.Phe719Ile Missense 4/12 - 1
16-50745995-G-A c.2173G>A p.Ala725Thr Missense 4/12 - 1
16-50745996-C-G c.2174C>G p.Ala725Gly Missense 4/12 - 18
16-50745996-C-T c.2174C>T p.Ala725Val Missense 4/12 - 1
16-50745998-G-A c.2176G>A p.Ala726Thr Missense 4/12 - 1
16-50745999-C-T c.2177C>T p.Ala726Val Missense 4/12 - 1
16-50746001-CCG-TGT c.2179_2181delinsTGT p.Pro727Cys Missense 4/12 - 1
16-50746003-G-A c.2181G>A p.Pro727Pro Synonymous 4/12 - 1
16-50746003-G-C c.2181G>C p.Pro727Pro Synonymous 4/12 - 1
16-50746019-G-C c.2197G>C p.Val733Leu Missense 4/12 - 1
16-50746019-G-T c.2197G>T p.Val733Leu Missense 4/12 - 1
16-50746026-C-T c.2204C>T p.Ala735Val Missense 4/12 - 2
16-50746042-C-A c.2220C>A p.Ile740Ile Synonymous 4/12 - 1
16-50746042-C-T c.2220C>T p.Ile740Ile Synonymous 4/12 - 1
16-50746052-C-T c.2230C>T p.Arg744Trp Missense 4/12 - 2
16-50746062-A-T c.2240A>T p.Tyr747Phe Missense 4/12 - 1
16-50746073-G-A c.2251G>A p.Glu751Lys Missense 4/12 - 1
16-50746079-C-G c.2257C>G p.Arg753Gly Missense 4/12 - 1
16-50746080-G-A c.2258G>A p.Arg753Gln Missense 4/12 - 4
16-50746086-C-T c.2264C>T p.Ala755Val Missense 4/12 - 13
16-50746095-C-T c.2273C>T p.Ala758Val Missense 4/12 - 2
16-50746098-C-T c.2276C>T p.Ala759Val Missense 4/12 - 1
16-50746103-G-A c.2281G>A p.Gly761Ser Missense 4/12 - 1
16-50746106-C-A c.2284C>A p.Leu762Met Missense 4/12 - 1
16-50746139-A-G c.2317A>G p.Ser773Gly Missense 4/12 - 1
16-50746142-G-C c.2320G>C p.Val774Leu Missense 4/12 - 1
16-50746142-G-T c.2320G>T p.Val774Leu Missense 4/12 - 1
16-50746146-G-A c.2324G>A p.Gly775Asp Missense 4/12 - 1
16-50746154-G-A c.2332G>A p.Glu778Lys Missense 4/12 - 5
16-50746154-G-C c.2332G>C p.Glu778Gln Missense 4/12 - 1
16-50746158-G-A c.2336G>A p.Cys779Tyr Missense 4/12 - 1
16-50746164-C-T c.2342C>T p.Ala781Val Missense 4/12 - 1
16-50746191-G-A c.2369G>A p.Arg790Gln Missense 4/12 - 5
16-50746193-C-T c.2371C>T p.Arg791Trp Missense 4/12 - 1
16-50746194-G-A c.2372G>A p.Arg791Gln Missense 4/12 - 6
16-50746194-G-T c.2372G>T p.Arg791Leu Missense 4/12 - 1
16-50746199-G-A c.2377G>A p.Val793Met Missense 4/12 - 17
16-50746199-G-T c.2377G>T p.Val793Leu Missense 4/12 - 1
16-50746208-C-T c.2386C>T p.Gln796* Nonsense 4/12 - 1
16-50746216-C-A c.2394C>A p.Asp798Glu Missense 4/12 - 1
16-50746216-C-G c.2394C>G p.Asp798Glu Missense 4/12 - 1
16-50746228-G-C c.2406G>C p.Val802Val Synonymous 4/12 - 1
16-50746228-G-T c.2406G>T p.Val802Val Synonymous 4/12 - 1
16-50746236-T-A c.2414T>A p.Ile805Asn Missense 4/12 - 1
16-50746239-G-C c.2417G>C p.Gly806Ala Missense 4/12 - 1
16-50746240-C-G c.2418C>G p.Gly806Gly Synonymous 4/12 - 1
16-50746240-C-T c.2418C>T p.Gly806Gly Synonymous 4/12 - 1
16-50746247-C-A c.2425C>A p.Gln809Lys Missense 4/12 - 1
16-50746248-A-G c.2426A>G p.Gln809Arg Missense 4/12 - 1
16-50746256-C-A c.2434C>A p.Pro812Thr Missense 4/12 - 1
16-50746268-G-A c.2446G>A p.Val816Ile Missense 4/12 - 1
16-50746277-G-A c.2455G>A p.Ala819Thr Missense 4/12 - 1
16-50746291-G-T c.2462+7G>T - IntronicSNV - 4/11 1
16-50746294-A-C c.2462+10A>C - IntronicSNV - 4/11 6
16-50746546-C-G c.2462+262C>G - IntronicSNV - 4/11 10
16-50746546-C-T c.2462+262C>T - IntronicSNV - 4/11 10
16-50747704-C-T c.2462+1420C>T - IntronicSNV - 4/11 7
16-50747739-C-G c.2462+1455C>G - IntronicSNV - 4/11 1
16-50747739-C-T c.2462+1455C>T - IntronicSNV - 4/11 1
16-50749374-A-T c.2463-1124A>T - IntronicSNV - 4/11 2
16-50749408-G-T c.2463-1090G>T - IntronicSNV - 4/11 1
16-50750503-G-A c.2468G>A p.Arg823His Missense 5/12 - 1
16-50750505-G-A c.2470G>A p.Asp824Asn Missense 5/12 - 5
16-50750505-G-T c.2470G>T p.Asp824Tyr Missense 5/12 - 1
16-50750510-C-A c.2475C>A p.Asn825Lys Missense 5/12 - 1
16-50750510-C-G c.2475C>G p.Asn825Lys Missense 5/12 - 1
16-50750520-G-T c.2485G>T p.Asp829Tyr Missense 5/12 - 1
16-50750524-G-A c.2489G>A p.Arg830Gln Missense 5/12 - 1
16-50750527-G-A c.2492G>A p.Gly831Asp Missense 5/12 - 1
16-50750538-C-T c.2503C>T p.Leu835Phe Missense 5/12 - 1
16-50750562-G-A c.2527G>A p.Glu843Lys Missense 5/12 - 4
16-50750577-TT-CC c.2542_2543delinsCC p.Leu848Pro Missense 5/12 - 1
16-50750583-T-TT c.2546+2dup - IntronicInsertion - 5/11 1
16-50750810-A-G c.2555A>G p.Asn852Ser Missense 6/12 - 17
16-50750813-A-G c.2558A>G p.Asn853Ser Missense 6/12 - 3
16-50750824-G-T c.2569G>T p.Asp857Tyr Missense 6/12 - 1
16-50750826-C-T c.2571C>T p.Asp857Asp Synonymous 6/12 - 1
16-50750834-C-G c.2579C>G p.Ala860Gly Missense 6/12 - 1
16-50750842-A-G c.2587A>G p.Met863Val Missense 6/12 - 14
16-50750842-A-T c.2587A>T p.Met863Leu Missense 6/12 - 3
16-50750858-C-T c.2603C>T p.Ala868Val Missense 6/12 - 1
16-50750871-C-A c.2616C>A p.Asn872Lys Missense 6/12 - 1
16-50750871-C-G c.2616C>G p.Asn872Lys Missense 6/12 - 1
16-50750874-C-T c.2619C>T p.Phe873Phe Synonymous 6/12 - 1
16-50750881-TTG-ATC c.2626_2628delinsATC p.Leu876Ile Missense 6/12 - 1
16-50750884-AG-GC c.2629_2630delinsGC p.Arg877Ala Missense 6/12 - 2
16-50751175-T-G c.2630+290T>G - IntronicSNV - 6/11 21
16-50751398-A-G c.2630+513A>G - IntronicSNV - 6/11 15
16-50751787-G-A c.2630+902G>A - IntronicSNV - 6/11 12
16-50751787-G-T c.2630+902G>T - IntronicSNV - 6/11 12
16-50751972-G-A c.2630+1087G>A - IntronicSNV - 6/11 2
16-50752164-G-A c.2630+1279G>A - IntronicSNV - 6/11 1
16-50752815-T-C c.2631-1021T>C - IntronicSNV - 6/11 5
16-50753424-G-A c.2631-412G>A - IntronicSNV - 6/11 2
16-50753424-G-C c.2631-412G>C - IntronicSNV - 6/11 2
16-50753798-C-T c.2631-38C>T - IntronicSNV - 6/11 1
16-50753840-G-A c.2635G>A p.Gly879Arg Missense 7/12 - 1
16-50753840-G-C c.2635G>C p.Gly879Arg Missense 7/12 - 1
16-50753849-T-C c.2644T>C p.Tyr882His Missense 7/12 - 1
16-50753856-C-T c.2651C>T p.Thr884Ile Missense 7/12 - 1
16-50753858-G-A c.2653G>A p.Ala885Thr Missense 7/12 - 2
16-50753858-G-C c.2653G>C p.Ala885Pro Missense 7/12 - 1
16-50753867-G-T c.2662G>T p.Ala888Ser Missense 7/12 - 1
16-50753871-A-C c.2666A>C p.Gln889Pro Missense 7/12 - 1
16-50753873-G-A c.2668G>A p.Val890Met Missense 7/12 - 1
16-50753873-GT-CA c.2668_2669delinsCA p.Val890Gln Missense 7/12 - 1
16-50753874-T-C c.2669T>C p.Val890Ala Missense 7/12 - 1
16-50753876-C-A c.2671C>A p.Leu891Met Missense 7/12 - 1
16-50753880-C-T c.2675C>T p.Ala892Val Missense 7/12 - 1
16-50753886-G-A c.2681G>A p.Gly894Glu Missense 7/12 - 1
16-50753900-A-G c.2695A>G p.Thr899Ala Missense 7/12 - 1
16-50753906-T-G c.2701T>G p.Leu901Val Missense 7/12 - 1
16-50753909-C-A c.2704C>A p.Gln902Lys Missense 7/12 - 4
16-50753915-C-A c.2710C>A p.Leu904Met Missense 7/12 - 1
16-50753917-G-A c.2712G>A p.Leu904Leu Synonymous 7/12 - 1
16-50755709-T-A c.2715-824T>A - IntronicSNV - 7/11 14
16-50755709-T-G c.2715-824T>G - IntronicSNV - 7/11 14
16-50756537-TG-GC c.2719_2720delinsGC p.Trp907Ala Missense 8/12 - 1
16-50756538-G-T c.2720G>T p.Trp907Leu Missense 8/12 - 3
16-50756540-G-C c.2722G>C p.Gly908Arg Missense 8/12 - 641
16-50756540-GG-CC c.2722_2723inv p.Gly908Pro Missense 8/12 - 1
16-50756540-GGC-TGG c.2722_2724delinsTGG p.Gly908Trp Missense 8/12 - 2
16-50756540-G-T c.2722G>T p.Gly908Cys Missense 8/12 - 110
16-50756541-G-C c.2723G>C p.Gly908Ala Missense 8/12 - 1
16-50756549-G-A c.2731G>A p.Val911Met Missense 8/12 - 1
16-50756556-A-T c.2738A>T p.Asp913Val Missense 8/12 - 1
16-50756557-C-A c.2739C>A p.Asp913Glu Missense 8/12 - 1
16-50756557-C-G c.2739C>G p.Asp913Glu Missense 8/12 - 1
16-50756557-C-T c.2739C>T p.Asp913Asp Synonymous 8/12 - 1
16-50756561-GGG-TGT c.2743_2745delinsTGT p.Gly915Cys Missense 8/12 - 1
16-50756562-G-A c.2744G>A p.Gly915Glu Missense 8/12 - 1
16-50756571-C-A c.2753C>A p.Ala918Asp Missense 8/12 - 8
16-50756576-G-A c.2758G>A p.Ala920Thr Missense 8/12 - 1
16-50756582-G-A c.2764G>A p.Ala922Thr Missense 8/12 - 1
16-50756589-G-A c.2771G>A p.Gly924Asp Missense 8/12 - 2
16-50756615-AG-GC c.2797_2798delinsGC p.Ser933Ala Missense 8/12 - 1
16-50756774-C-G c.2798+158C>G - IntronicSNV - 8/11 51
16-50756774-C-T c.2798+158C>T - IntronicSNV - 8/11 51
16-50756881-A-G c.2798+265A>G - IntronicSNV - 8/11 88
16-50757216-G-A c.2803G>A p.Val935Met Missense 9/12 - 2
16-50757228-A-G c.2815A>G p.Ile939Val Missense 9/12 - 1
16-50757230-T-A c.2817T>A p.Ile939Ile Synonymous 9/12 - 1
16-50757230-T-C c.2817T>C p.Ile939Ile Synonymous 9/12 - 1
16-50757244-C-T c.2831C>T p.Ala944Val Missense 9/12 - 1
16-50757249-G-A c.2836G>A p.Ala946Thr Missense 9/12 - 1
16-50757252-T-A c.2839T>A p.Leu947Met Missense 9/12 - 1
16-50757255-G-A c.2842G>A p.Ala948Thr Missense 9/12 - 1
16-50757258-C-A c.2845C>A p.Leu949Met Missense 9/12 - 1
16-50757258-C-G c.2845C>G p.Leu949Val Missense 9/12 - 1
16-50757270-A-G c.2857A>G p.Lys953Glu Missense 9/12 - 2
16-50757276-G-A c.2863G>A p.Val955Ile Missense 9/12 - 47
16-50757276-G-C c.2863G>C p.Val955Leu Missense 9/12 - 1
16-50757280-T-C c.2867T>C p.Met956Thr Missense 9/12 - 1
16-50757285-G-A c.2872G>A p.Glu958Lys Missense 9/12 - 1
16-50757288-G-A c.2875G>A p.Glu959Lys Missense 9/12 - 2
16-50757291-C-G c.2878C>G p.Leu960Val Missense 9/12 - 1
16-50757295-G-A c.2882G>A p.Cys961Tyr Missense 9/12 - 2
16-50758838-T-C c.2883-562T>C - IntronicSNV - 9/11 2
16-50758849-G-A c.2883-551G>A - IntronicSNV - 9/11 2
16-50759268-C-A c.2883-132C>A - IntronicSNV - 9/11 1
16-50759269-T-A c.2883-131T>A - IntronicSNV - 9/11 1
16-50759269-T-C c.2883-131T>C - IntronicSNV - 9/11 1
16-50759398-A-G c.2883-2A>G - IntronicSNV - 9/11 1
16-50759405-A-G c.2888A>G p.Glu963Gly Missense 10/12 - 2
16-50759421-G-C c.2904G>C p.Gln968His Missense 10/12 - 1
16-50759421-G-T c.2904G>T p.Gln968His Missense 10/12 - 1
16-50759426-A-G c.2909A>G p.Glu970Gly Missense 10/12 - 1
16-50759431-G-A c.2914G>A p.Val972Ile Missense 10/12 - 1
16-50759436-T-C c.2919T>C p.Cys973Cys Synonymous 10/12 - 1
16-50759440-C-G c.2923C>G p.Leu975Val Missense 10/12 - 1
16-50759440-C-T c.2923C>T p.Leu975Phe Missense 10/12 - 1
16-50759442-C-A c.2925C>A p.Leu975Leu Synonymous 10/12 - 2
16-50759442-C-G c.2925C>G p.Leu975Leu Synonymous 10/12 - 1
16-50759442-C-T c.2925C>T p.Leu975Leu Synonymous 10/12 - 2
16-50759443-G-A c.2926G>A p.Ala976Thr Missense 10/12 - 1
16-50759450-G-A c.2933G>A p.Gly978Glu Missense 10/12 - 2
16-50759467-AG-GC c.2950_2951delinsGC p.Ser984Ala Missense 10/12 - 1
16-50759468-G-C c.2951G>C p.Ser984Thr Missense 10/12 - 1
16-50759470-T-A c.2953T>A p.Leu985Met Missense 10/12 - 1
16-50759474-A-T c.2957A>T p.Lys986Ile Missense 10/12 - 1
16-50759482-A-G c.2965A>G p.Lys989Glu Missense 10/12 - 2
16-50759547-A-T c.2966+64A>T - IntronicSNV - 10/11 22
16-50759731-T-A c.2966+248T>A - IntronicSNV - 10/11 2
16-50759980-A-C c.2966+497A>C - IntronicSNV - 10/11 2
16-50759980-A-G c.2966+497A>G - IntronicSNV - 10/11 2
16-50760838-A-G c.2966+1355A>G - IntronicSNV - 10/11 2
16-50761434-C-T c.2966+1951C>T - IntronicSNV - 10/11 2
16-50762771-T-C c.2967-958T>C - IntronicSNV - 10/11 3
16-50763715-A-G c.2967-14A>G - IntronicSNV - 10/11 1
16-50763734-C-T c.2972C>T p.Ser991Phe Missense 11/12 - 2
16-50763757-G-A c.2995G>A p.Gly999Arg Missense 11/12 - 1
16-50763757-G-C c.2995G>C p.Gly999Arg Missense 11/12 - 1
16-50763762-A-C c.3000A>C p.Ala1000Ala Synonymous 11/12 - 1
16-50763762-A-G c.3000A>G p.Ala1000Ala Synonymous 11/12 - 1
16-50763762-A-T c.3000A>T p.Ala1000Ala Synonymous 11/12 - 1
16-50763766-G-T c.3004G>T p.Ala1002Ser Missense 11/12 - 1
16-50763777-G-GC c.3015_3016insC p.Ala1006Argfs*3 Frameshift 11/12 - 2
16-50763781-C-CC c.3019dup p.Leu1007Profs*2 Frameshift 11/12 - 158
16-50763781-C-T c.3019C>T p.Leu1007Phe Missense 11/12 - 3
16-50763781-CT-TG c.3019_3020delinsTG p.Leu1007Cys Missense 11/12 - 2
16-50763781-CTT-TAA c.3019_3021delinsTAA p.Leu1007* Nonsense 11/12 - 1
16-50763782-T-C c.3020T>C p.Leu1007Pro Missense 11/12 - 12
16-50763782-T-TC c.3020_3021insC p.Glu1008* Nonsense 11/12 - 11
16-50763785-A-G c.3023A>G p.Glu1008Gly Missense 11/12 - 1
16-50763791-A-G c.3029A>G p.Asn1010Ser Missense 11/12 - 2
16-50763792-T-A c.3030T>A p.Asn1010Lys Missense 11/12 - 1
16-50763792-T-G c.3030T>G p.Asn1010Lys Missense 11/12 - 1
16-50763797-C-T c.3035C>T p.Thr1012Ile Missense 11/12 - 1
16-50763881-C-T c.3050+69C>T - IntronicSNV - 11/11 1
16-50764836-G-A c.3051-822G>A - IntronicSNV - 11/11 2
16-50764836-G-T c.3051-822G>T - IntronicSNV - 11/11 2
16-50764988-G-A c.3051-670G>A - IntronicSNV - 11/11 1
16-50765376-A-G c.3051-282A>G - IntronicSNV - 11/11 4
16-50765659-C-T c.3052C>T p.Leu1018Phe Missense 12/12 - 2
16-50765684-A-C c.3077A>C p.Glu1026Ala Missense 12/12 - 1
16-50765687-A-C c.3080A>C p.Glu1027Ala Missense 12/12 - 1
16-50765701-G-T c.3094G>T p.Gly1032Cys Missense 12/12 - 1
16-50765716-AG-GC c.3109_3110delinsGC p.Arg1037Ala Missense 12/12 - 1
16-50765719-C-G c.3112C>G p.Leu1038Val Missense 12/12 - 1
16-50765719-C-T c.3112C>T p.Leu1038Phe Missense 12/12 - 1
16-50765738-G-A c.*8G>A - 3-UTRSNV 12/12 - 1
16-50765738-G-C c.*8G>C - 3-UTRSNV 12/12 - 1
16-50766127-A-C c.*397A>C - 3-UTRSNV 12/12 - 28
16-50766581-C-T c.*851C>T - 3-UTRSNV 12/12 - 1
16-50766886-G-A c.*1156G>A - 3-UTRSNV 12/12 - 26