MC1R melanocortin 1 receptor

Canonical transcript: NM_002386

378 unique variant annotations were identified in 343 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
16-89984378-C-T c.-1289C>T - 5-UTRSNV 1/1 - 2
16-89984604-T-C c.-1063T>C - 5-UTRSNV 1/1 - 2
16-89985067-C-A c.-600C>A - 5-UTRSNV 1/1 - 1
16-89985067-C-G c.-600C>G - 5-UTRSNV 1/1 - 1
16-89985067-C-T c.-600C>T - 5-UTRSNV 1/1 - 1
16-89985131-C-T c.-536C>T - 5-UTRSNV 1/1 - 3
16-89985177-C-T c.-490C>T - 5-UTRSNV 1/1 - 2
16-89985222-G-A c.-445G>A - 5-UTRSNV 1/1 - 2
16-89985311-A-G c.-356A>G - 5-UTRSNV 1/1 - 1
16-89985441-A-T c.-226A>T - 5-UTRSNV 1/1 - 4
16-89985553-G-A c.-114G>A - 5-UTRSNV 1/1 - 1
16-89985557-A-C c.-110A>C - 5-UTRSNV 1/1 - 1
16-89985557-A-T c.-110A>T - 5-UTRSNV 1/1 - 1
16-89985654-C-T c.-13C>T - 5-UTRSNV 1/1 - 1
16-89985671-C-T c.5C>T p.Ala2Val Missense 1/1 - 1
16-89985691-A-G c.25A>G p.Arg9Gly Missense 1/1 - 1
16-89985701-G-A c.35G>A p.Gly12Asp Missense 1/1 - 1
16-89985701-G-T c.35G>T p.Gly12Val Missense 1/1 - 1
16-89985709-AAC-CAA c.43_45delinsCAA p.Asn15Gln Missense 1/1 - 1
16-89985710-A-G c.44A>G p.Asn15Ser Missense 1/1 - 1
16-89985718-C-G c.52C>G p.Pro18Ala Missense 1/1 - 2
16-89985722-C-T c.56C>T p.Thr19Ile Missense 1/1 - 3
16-89985733-C-T c.67C>T p.Gln23* Nonsense 1/1 - 2
16-89985734-CAGC-C c.68_70del p.Gln23del InFrameDeletion 1/1 - 1
16-89985735-G-C c.69G>C p.Gln23His Missense 1/1 - 1
16-89985735-G-T c.69G>T p.Gln23His Missense 1/1 - 1
16-89985736-C-T c.70C>T p.Leu24Leu Synonymous 1/1 - 1
16-89985738-G-A c.72G>A p.Leu24Leu Synonymous 1/1 - 1
16-89985738-G-C c.72G>C p.Leu24Leu Synonymous 1/1 - 1
16-89985738-G-T c.72G>T p.Leu24Leu Synonymous 1/1 - 1
16-89985751-AAC-CAA c.85_87delinsCAA p.Asn29Gln Missense 1/1 - 1
16-89985752-A-AA c.86dup p.Asn29Lysfs*14 Frameshift 1/1 - 5
16-89985753-C-A c.87C>A p.Asn29Lys Missense 1/1 - 2
16-89985753-C-G c.87C>G p.Asn29Lys Missense 1/1 - 2
16-89985754-C-T c.88C>T p.Gln30* Nonsense 1/1 - 1
16-89985758-CA-TG c.92_93inv p.Thr31Met Missense 1/1 - 2
16-89985758-C-T c.92C>T p.Thr31Ile Missense 1/1 - 1
16-89985766-C-A c.100C>A p.Arg34Arg Synonymous 1/1 - 2
16-89985766-C-T c.100C>T p.Arg34Trp Missense 1/1 - 2
16-89985768-G-A c.102G>A p.Arg34Arg Synonymous 1/1 - 2
16-89985768-G-C c.102G>C p.Arg34Arg Synonymous 1/1 - 2
16-89985768-G-T c.102G>T p.Arg34Arg Synonymous 1/1 - 2
16-89985767-G-A c.101G>A p.Arg34Gln Missense 1/1 - 1
16-89985769-T-A c.103T>A p.Cys35Ser Missense 1/1 - 1
16-89985770-G-C c.104G>C p.Cys35Ser Missense 1/1 - 1
16-89985770-G-A c.104G>A p.Cys35Tyr Missense 1/1 - 3
16-89985773-T-C c.107T>C p.Leu36Pro Missense 1/1 - 1
16-89985778-G-A c.112G>A p.Val38Met Missense 1/1 - 8
16-89985785-T-C c.119T>C p.Ile40Thr Missense 1/1 - 1
16-89985788-C-G c.122C>G p.Ser41Cys Missense 1/1 - 3
16-89985788-C-T c.122C>T p.Ser41Phe Missense 1/1 - 1
16-89985791-GACGGGC-G c.125_130del p.Asp42_Leu44delinsVal MultiAAMissense 1/1 - 1
16-89985792-C-A c.126C>A p.Asp42Glu Missense 1/1 - 1
16-89985792-C-T c.126C>T p.Asp42Asp Synonymous 1/1 - 2
16-89985796-C-G c.130C>G p.Leu44Val Missense 1/1 - 1
16-89985796-CT-AC c.130_131delinsAC p.Leu44Thr Missense 1/1 - 1
16-89985799-T-C c.133T>C p.Phe45Leu Missense 1/1 - 5
16-89985801-C-G c.135C>G p.Phe45Leu Missense 1/1 - 2
16-89985806-G-C c.140G>C p.Ser47Thr Missense 1/1 - 1
16-89985806-G-T c.140G>T p.Ser47Ile Missense 1/1 - 2
16-89985809-T-C c.143T>C p.Leu48Pro Missense 1/1 - 1
16-89985814-C-T c.148C>T p.Leu50Leu Synonymous 1/1 - 1
16-89985816-G-A c.150G>A p.Leu50Leu Synonymous 1/1 - 1
16-89985816-G-C c.150G>C p.Leu50Leu Synonymous 1/1 - 1
16-89985816-G-T c.150G>T p.Leu50Leu Synonymous 1/1 - 1
16-89985818-T-C c.152T>C p.Val51Ala Missense 1/1 - 1
16-89985834-C-T c.168C>T p.Asn56Asn Synonymous 1/1 - 1
16-89985841-G-A c.175G>A p.Val59Met Missense 1/1 - 1
16-89985844-G-A c.178G>A p.Val60Met Missense 1/1 - 1
16-89985844-G-T c.178G>T p.Val60Leu Missense 1/1 - 124
16-89985844-GT-AG c.178_179delinsAG p.Val60Arg Missense 1/1 - 1
16-89985849-C-T c.183C>T p.Ala61Ala Synonymous 1/1 - 2
16-89985856-G-A c.190G>A p.Ala64Thr Missense 1/1 - 4
16-89985865-CGG-TGT c.199_201delinsTGT p.Arg67Cys Missense 1/1 - 1
16-89985865-C-T c.199C>T p.Arg67Trp Missense 1/1 - 3
16-89985866-G-A c.200G>A p.Arg67Gln Missense 1/1 - 8
16-89985871-C-G c.205C>G p.Leu69Val Missense 1/1 - 1
16-89985874-C-T c.208C>T p.His70Tyr Missense 1/1 - 1
16-89985881-C-T c.215C>T p.Pro72Leu Missense 1/1 - 1
16-89985884-T-A c.218T>A p.Met73Lys Missense 1/1 - 4
16-89985887-A-G c.221A>G p.Tyr74Cys Missense 1/1 - 1
16-89985890-TGCTT-T c.224_227del p.Cys75Serfs*12 Frameshift 1/1 - 1
16-89985898-T-A c.232T>A p.Cys78Ser Missense 1/1 - 1
16-89985899-G-C c.233G>C p.Cys78Ser Missense 1/1 - 1
16-89985899-G-T c.233G>T p.Cys78Phe Missense 1/1 - 1
16-89985907-G-C c.241G>C p.Ala81Pro Missense 1/1 - 3
16-89985908-C-T c.242C>T p.Ala81Val Missense 1/1 - 1
16-89985913-T-C c.247T>C p.Ser83Pro Missense 1/1 - 12
16-89985914-CG-TT c.248_249delinsTT p.Ser83Phe Missense 1/1 - 5
16-89985914-C-T c.248C>T p.Ser83Leu Missense 1/1 - 6
16-89985916-G-A c.250G>A p.Asp84Asn Missense 1/1 - 5
16-89985916-G-C c.250G>C p.Asp84His Missense 1/1 - 1
16-89985917-A-G c.251A>G p.Asp84Gly Missense 1/1 - 1
16-89985918-C-A c.252C>A p.Asp84Glu Missense 1/1 - 112
16-89985918-C-G c.252C>G p.Asp84Glu Missense 1/1 - 107
16-89985925-G-A c.259G>A p.Val87Met Missense 1/1 - 2
16-89985931-G-A c.265G>A p.Gly89Arg Missense 1/1 - 2
16-89985931-G-C c.265G>C p.Gly89Arg Missense 1/1 - 4
16-89985932-G-T c.266G>T p.Gly89Val Missense 1/1 - 1
16-89985933-G-A c.267G>A p.Gly89Gly Synonymous 1/1 - 1
16-89985933-G-C c.267G>C p.Gly89Gly Synonymous 1/1 - 1
16-89985933-G-T c.267G>T p.Gly89Gly Synonymous 1/1 - 1
16-89985934-A-G c.268A>G p.Ser90Gly Missense 1/1 - 1
16-89985937-A-G c.271A>G p.Asn91Asp Missense 1/1 - 1
16-89985940-G-A c.274G>A p.Val92Met Missense 1/1 - 119
16-89985940-G-C c.274G>C p.Val92Leu Missense 1/1 - 17
16-89985941-T-A c.275T>A p.Val92Glu Missense 1/1 - 1
16-89985944-T-G c.278T>G p.Leu93Arg Missense 1/1 - 1
16-89985946-G-A c.280G>A p.Glu94Lys Missense 1/1 - 2
16-89985946-GA-AG c.280_281delinsAG p.Glu94Arg Missense 1/1 - 1
16-89985947-A-C c.281A>C p.Glu94Ala Missense 1/1 - 1
16-89985947-GAGACGG-G c.281_286del p.Glu94_Thr95del InFrameDeletion 1/1 - 2
16-89985950-C-T c.284C>T p.Thr95Met Missense 1/1 - 14
16-89985958-A-G c.292A>G p.Ile98Val Missense 1/1 - 1
16-89985961-C-A c.295C>A p.Leu99Ile Missense 1/1 - 1
16-89985962-T-C c.296T>C p.Leu99Pro Missense 1/1 - 5
16-89985971-GAGGCCGGTGCACTGGTGGCCCGGGCTGCGG-G c.305_334del p.Glu102_Ala111del InFrameDeletion 1/1 - 1
16-89985975-C-T c.309C>T p.Ala103Ala Synonymous 1/1 - 1
16-89985976-G-A c.310G>A p.Gly104Ser Missense 1/1 - 5
16-89985977-GG-G c.311del p.Gly104Valfs*19 Frameshift 1/1 - 1
16-89985979-G-A c.313G>A p.Ala105Thr Missense 1/1 - 1
16-89985983-T-A c.317T>A p.Leu106Gln Missense 1/1 - 1
16-89985984-G-A c.318G>A p.Leu106Leu Synonymous 1/1 - 5
16-89985984-G-T c.318G>T p.Leu106Leu Synonymous 1/1 - 5
16-89985991-C-T c.325C>T p.Arg109Trp Missense 1/1 - 2
16-89985994-G-A c.328G>A p.Ala110Thr Missense 1/1 - 1
16-89985997-G-A c.331G>A p.Ala111Thr Missense 1/1 - 8
16-89985998-C-T c.332C>T p.Ala111Val Missense 1/1 - 1
16-89985999-G-A c.333G>A p.Ala111Ala Synonymous 1/1 - 1
16-89986006-C-A c.340C>A p.Gln114Lys Missense 1/1 - 1
16-89986016-A-C c.350A>C p.Asp117Ala Missense 1/1 - 1
16-89986016-A-T c.350A>T p.Asp117Val Missense 1/1 - 2
16-89986020-T-C c.354T>C p.Asn118Asn Synonymous 1/1 - 2
16-89986023-C-A c.357C>A p.Val119Val Synonymous 1/1 - 1
16-89986025-T-C c.359T>C p.Ile120Thr Missense 1/1 - 10
16-89986027-G-A c.361G>A p.Asp121Asn Missense 1/1 - 9
16-89986028-A-C c.362A>C p.Asp121Ala Missense 1/1 - 1
16-89986029-C-G c.363C>G p.Asp121Glu Missense 1/1 - 3
16-89986030-G-A c.364G>A p.Val122Met Missense 1/1 - 8
16-89986030-GTG-ATC c.364_366delinsATC p.Val122Ile Missense 1/1 - 1
16-89986032-G-A c.366G>A p.Val122Val Synonymous 1/1 - 2
16-89986032-G-C c.366G>C p.Val122Val Synonymous 1/1 - 2
16-89986039-T-C c.373T>C p.Cys125Arg Missense 1/1 - 2
16-89986041-C-T c.375C>T p.Cys125Cys Synonymous 1/1 - 1
16-89986042-A-G c.376A>G p.Ser126Gly Missense 1/1 - 3
16-89986049-T-A c.383T>A p.Met128Lys Missense 1/1 - 1
16-89986049-T-C c.383T>C p.Met128Thr Missense 1/1 - 4
16-89986055-C-T c.389C>T p.Ser130Phe Missense 1/1 - 1
16-89986058-G-A c.392G>A p.Ser131Asn Missense 1/1 - 4
16-89986065-C-T c.399C>T p.Cys133Cys Synonymous 1/1 - 4
16-89986075-G-A c.409G>A p.Ala137Thr Missense 1/1 - 2
16-89986080-C-T c.414C>T p.Ile138Ile Synonymous 1/1 - 1
16-89986081-G-A c.415G>A p.Ala139Thr Missense 1/1 - 1
16-89986082-C-T c.416C>T p.Ala139Val Missense 1/1 - 1
16-89986083-C-A c.417C>A p.Ala139Ala Synonymous 1/1 - 1
16-89986083-C-G c.417C>G p.Ala139Ala Synonymous 1/1 - 1
16-89986083-C-T c.417C>T p.Ala139Ala Synonymous 1/1 - 1
16-89986084-G-A c.418G>A p.Val140Met Missense 1/1 - 1
16-89986085-T-G c.419T>G p.Val140Gly Missense 1/1 - 1
16-89986088-A-T c.422A>T p.Asp141Val Missense 1/1 - 1
16-89986090-C-A c.424C>A p.Arg142Ser Missense 1/1 - 3
16-89986090-C-T c.424C>T p.Arg142Cys Missense 1/1 - 7
16-89986091-G-A c.425G>A p.Arg142His Missense 1/1 - 105
16-89986092-C-A c.426C>A p.Arg142Arg Synonymous 1/1 - 1
16-89986095-C-T c.429C>T p.Tyr143Tyr Synonymous 1/1 - 2
16-89986100-C-T c.434C>T p.Ser145Phe Missense 1/1 - 1
16-89986104-C-T c.438C>T p.Ile146Ile Synonymous 1/1 - 1
16-89986110-C-T c.444C>T p.Tyr148Tyr Synonymous 1/1 - 1
16-89986111-G-A c.445G>A p.Ala149Thr Missense 1/1 - 3
16-89986112-C-T c.446C>T p.Ala149Val Missense 1/1 - 1
16-89986117-C-A c.451C>A p.Arg151Ser Missense 1/1 - 67
16-89986117-C-G c.451C>G p.Arg151Gly Missense 1/1 - 69
16-89986117-C-T c.451C>T p.Arg151Cys Missense 1/1 - 245
16-89986118-G-A c.452G>A p.Arg151His Missense 1/1 - 2
16-89986119-C-G c.453C>G p.Arg151Arg Synonymous 1/1 - 4
16-89986120-T-A c.454T>A p.Tyr152Asn Missense 1/1 - 1
16-89986120-TA-AC c.454_455delinsAC p.Tyr152Thr Missense 1/1 - 1
16-89986122-C-A c.456C>A p.Tyr152* Nonsense 1/1 - 16
16-89986130-T-C c.464T>C p.Ile155Thr Missense 1/1 - 83
16-89986131-C-A c.465C>A p.Ile155Ile Synonymous 1/1 - 1
16-89986131-C-T c.465C>T p.Ile155Ile Synonymous 1/1 - 1
16-89986132-G-C c.466G>C p.Val156Leu Missense 1/1 - 4
16-89986133-T-A c.467T>A p.Val156Glu Missense 1/1 - 1
16-89986133-T-C c.467T>C p.Val156Ala Missense 1/1 - 4
16-89986135-AC-GA c.469_470delinsGA p.Thr157Asp Missense 1/1 - 1
16-89986135-A-G c.469A>G p.Thr157Ala Missense 1/1 - 2
16-89986136-C-T c.470C>T p.Thr157Ile Missense 1/1 - 2
16-89986137-C-T c.471C>T p.Thr157Thr Synonymous 1/1 - 1
16-89986141-C-A c.475C>A p.Pro159Thr Missense 1/1 - 1
16-89986142-C-A c.476C>A p.Pro159Gln Missense 1/1 - 1
16-89986143-G-C c.477G>C p.Pro159Pro Synonymous 1/1 - 1
16-89986144-C-A c.478C>A p.Arg160Arg Synonymous 1/1 - 2
16-89986144-CGG-TGT c.478_480delinsTGT p.Arg160Cys Missense 1/1 - 1
16-89986144-C-T c.478C>T p.Arg160Trp Missense 1/1 - 210
16-89986145-G-A c.479G>A p.Arg160Gln Missense 1/1 - 3
16-89986145-GG-AT c.479_480delinsAT p.Arg160His Missense 1/1 - 3
16-89986149-G-A c.483G>A p.Ala161Ala Synonymous 1/1 - 1
16-89986150-C-G c.484C>G p.Arg162Gly Missense 1/1 - 1
16-89986151-G-C c.485G>C p.Arg162Pro Missense 1/1 - 4
16-89986153-C-G c.487C>G p.Arg163Gly Missense 1/1 - 1
16-89986154-G-A c.488G>A p.Arg163Gln Missense 1/1 - 122
16-89986157-C-T c.491C>T p.Ala164Val Missense 1/1 - 4
16-89986158-C-T c.492C>T p.Ala164Ala Synonymous 1/1 - 2
16-89986159-G-A c.493G>A p.Val165Ile Missense 1/1 - 1
16-89986162-G-GG c.496dup p.Ala166Glyfs*73 Frameshift 1/1 - 1
16-89986162-G-GGG c.496_497insGG p.Ala166Glyfs*149 Frameshift 1/1 - 1
16-89986163-C-G c.497C>G p.Ala166Gly Missense 1/1 - 1
16-89986163-C-T c.497C>T p.Ala166Val Missense 1/1 - 1
16-89986164-G-A c.498G>A p.Ala166Ala Synonymous 1/1 - 4
16-89986164-G-C c.498G>C p.Ala166Ala Synonymous 1/1 - 3
16-89986168-A-G c.502A>G p.Ile168Val Missense 1/1 - 1
16-89986170-C-T c.504C>T p.Ile168Ile Synonymous 1/1 - 4
16-89986178-C-A c.512C>A p.Ala171Asp Missense 1/1 - 2
16-89986178-C-G c.512C>G p.Ala171Gly Missense 1/1 - 2
16-89986180-A-T c.514A>T p.Ser172Cys Missense 1/1 - 1
16-89986181-G-A c.515G>A p.Ser172Asn Missense 1/1 - 1
16-89986181-G-T c.515G>T p.Ser172Ile Missense 1/1 - 6
16-89986186-CGTC-C c.520_522del p.Val174del InFrameDeletion 1/1 - 2
16-89986186-G-A c.520G>A p.Val174Ile Missense 1/1 - 4
16-89986196-CG-TC c.530_531delinsTC p.Thr177Ile Missense 1/1 - 1
16-89986197-G-A c.531G>A p.Thr177Thr Synonymous 1/1 - 1
16-89986203-C-CC c.537dup p.Ile180Hisfs*59 Frameshift 1/1 - 3
16-89986203-C-T c.537C>T p.Phe179Phe Synonymous 1/1 - 1
16-89986206-C-T c.540C>T p.Ile180Ile Synonymous 1/1 - 1
16-89986212-C-T c.546C>T p.Tyr182Tyr Synonymous 1/1 - 3
16-89986213-T-G c.547T>G p.Tyr183Asp Missense 1/1 - 1
16-89986216-G-A c.550G>A p.Asp184Asn Missense 1/1 - 4
16-89986216-G-C c.550G>C p.Asp184His Missense 1/1 - 2
16-89986221-C-T c.555C>T p.His185His Synonymous 1/1 - 3
16-89986228-G-A c.562G>A p.Val188Ile Missense 1/1 - 1
16-89986242-C-G c.576C>G p.Leu192Leu Synonymous 1/1 - 1
16-89986252-T-C c.586T>C p.Phe196Leu Missense 1/1 - 13
16-89986252-T-G c.586T>G p.Phe196Val Missense 1/1 - 4
16-89986253-T-C c.587T>C p.Phe196Ser Missense 1/1 - 1
16-89986258-G-C c.592G>C p.Ala198Pro Missense 1/1 - 1
16-89986264-C-T c.598C>T p.Leu200Leu Synonymous 1/1 - 1
16-89986266-G-A c.600G>A p.Leu200Leu Synonymous 1/1 - 1
16-89986266-G-C c.600G>C p.Leu200Leu Synonymous 1/1 - 1
16-89986266-G-T c.600G>T p.Leu200Leu Synonymous 1/1 - 1
16-89986279-G-C c.613G>C p.Val205Leu Missense 1/1 - 1
16-89986281-G-A c.615G>A p.Val205Val Synonymous 1/1 - 1
16-89986283-T-C c.617T>C p.Leu206Pro Missense 1/1 - 1
16-89986282-C-T c.616C>T p.Leu206Leu Synonymous 1/1 - 1
16-89986284-G-A c.618G>A p.Leu206Leu Synonymous 1/1 - 2
16-89986284-G-C c.618G>C p.Leu206Leu Synonymous 1/1 - 1
16-89986284-G-T c.618G>T p.Leu206Leu Synonymous 1/1 - 1
16-89986287-C-T c.621C>T p.Tyr207Tyr Synonymous 1/1 - 1
16-89986303-C-A c.637C>A p.Arg213Arg Synonymous 1/1 - 2
16-89986303-CCGGGCCTGCCAGCACGCCC-C c.637_655del p.Cys215Serfs*93 Frameshift 1/1 - 1
16-89986303-C-G c.637C>G p.Arg213Gly Missense 1/1 - 1
16-89986303-C-T c.637C>T p.Arg213Trp Missense 1/1 - 12
16-89986305-G-A c.639G>A p.Arg213Arg Synonymous 1/1 - 2
16-89986305-G-C c.639G>C p.Arg213Arg Synonymous 1/1 - 2
16-89986305-G-T c.639G>T p.Arg213Arg Synonymous 1/1 - 2
16-89986308-C-G c.642C>G p.Ala214Ala Synonymous 1/1 - 1
16-89986309-T-G c.643T>G p.Cys215Gly Missense 1/1 - 1
16-89986315-C-T c.649C>T p.His217Tyr Missense 1/1 - 1
16-89986317-C-T c.651C>T p.His217His Synonymous 1/1 - 1
16-89986318-G-A c.652G>A p.Ala218Thr Missense 1/1 - 7
16-89986319-C-G c.653C>G p.Ala218Gly Missense 1/1 - 1
16-89986326-C-T c.660C>T p.Gly220Gly Synonymous 1/1 - 1
16-89986328-T-C c.662T>C p.Ile221Thr Missense 1/1 - 2
16-89986330-G-A c.664G>A p.Ala222Thr Missense 1/1 - 1
16-89986330-G-T c.664G>T p.Ala222Ser Missense 1/1 - 1
16-89986333-C-T c.667C>T p.Arg223Trp Missense 1/1 - 4
16-89986339-C-T c.673C>T p.His225Tyr Missense 1/1 - 1
16-89986342-A-G c.676A>G p.Lys226Glu Missense 1/1 - 3
16-89986345-AG-CT c.679_680inv p.Arg227Leu Missense 1/1 - 1
16-89986346-G-A c.680G>A p.Arg227Lys Missense 1/1 - 1
16-89986350-G-A c.684G>A p.Gln228Gln Synonymous 1/1 - 1
16-89986355-C-T c.689C>T p.Pro230Leu Missense 1/1 - 6
16-89986356-G-A c.690G>A p.Pro230Pro Synonymous 1/1 - 3
16-89986356-G-C c.690G>C p.Pro230Pro Synonymous 1/1 - 3
16-89986365-G-A c.699G>A p.Gln233Gln Synonymous 1/1 - 11
16-89986369-T-C c.703T>C p.Phe235Leu Missense 1/1 - 1
16-89986371-T-A c.705T>A p.Phe235Leu Missense 1/1 - 1
16-89986371-T-G c.705T>G p.Phe235Leu Missense 1/1 - 1
16-89986373-G-A c.707G>A p.Gly236Asp Missense 1/1 - 1
16-89986381-G-T c.715G>T p.Gly239Cys Missense 1/1 - 1
16-89986383-C-G c.717C>G p.Gly239Gly Synonymous 1/1 - 4
16-89986383-C-T c.717C>T p.Gly239Gly Synonymous 1/1 - 4
16-89986386-T-C c.720T>C p.Ala240Ala Synonymous 1/1 - 2
16-89986391-C-T c.725C>T p.Thr242Ile Missense 1/1 - 2
16-89986392-C-T c.726C>T p.Thr242Thr Synonymous 1/1 - 1
16-89986401-C-A c.735C>A p.Ile245Ile Synonymous 1/1 - 1
16-89986401-C-T c.735C>T p.Ile245Ile Synonymous 1/1 - 2
16-89986407-G-A c.741G>A p.Leu247Leu Synonymous 1/1 - 1
16-89986409-G-A c.743G>A p.Gly248Asp Missense 1/1 - 1
16-89986409-G-T c.743G>T p.Gly248Val Missense 1/1 - 2
16-89986414-T-G c.748T>G p.Phe250Val Missense 1/1 - 2
16-89986420-CC-C c.754del p.Leu252Serfs*62 Frameshift 1/1 - 1
16-89986421-T-G c.755T>G p.Leu252Arg Missense 1/1 - 1
16-89986423-T-G c.757T>G p.Cys253Gly Missense 1/1 - 1
16-89986425-C-G c.759C>G p.Cys253Trp Missense 1/1 - 1
16-89986429-G-C c.763G>C p.Gly255Arg Missense 1/1 - 1
16-89986432-C-T c.766C>T p.Pro256Ser Missense 1/1 - 6
16-89986436-T-A c.770T>A p.Phe257Tyr Missense 1/1 - 1
16-89986438-T-C c.772T>C p.Phe258Leu Missense 1/1 - 1
16-89986440-C-A c.774C>A p.Phe258Leu Missense 1/1 - 1
16-89986440-C-G c.774C>G p.Phe258Leu Missense 1/1 - 1
16-89986445-A-C c.779A>C p.His260Pro Missense 1/1 - 4
16-89986445-A-T c.779A>T p.His260Leu Missense 1/1 - 1
16-89986447-CT-GC c.781_782delinsGC p.Leu261Ala Missense 1/1 - 1
16-89986454-T-C c.788T>C p.Leu263Pro Missense 1/1 - 1
16-89986456-A-G c.790A>G p.Ile264Val Missense 1/1 - 1
16-89986458-C-T c.792C>T p.Ile264Ile Synonymous 1/1 - 7
16-89986459-G-A c.793G>A p.Val265Ile Missense 1/1 - 1
16-89986461-C-G c.795C>G p.Val265Val Synonymous 1/1 - 1
16-89986467-C-A c.801C>A p.Cys267* Nonsense 1/1 - 1
16-89986467-C-G c.801C>G p.Cys267Trp Missense 1/1 - 2
16-89986479-C-T c.813C>T p.Pro271Pro Synonymous 1/1 - 1
16-89986480-A-G c.814A>G p.Thr272Ala Missense 1/1 - 1
16-89986481-C-A c.815C>A p.Thr272Lys Missense 1/1 - 1
16-89986481-C-T c.815C>T p.Thr272Met Missense 1/1 - 1
16-89986484-G-A c.818G>A p.Cys273Tyr Missense 1/1 - 1
16-89986485-C-T c.819C>T p.Cys273Cys Synonymous 1/1 - 3
16-89986486-G-A c.820G>A p.Gly274Ser Missense 1/1 - 1
16-89986487-G-C c.821G>C p.Gly274Ala Missense 1/1 - 1
16-89986494-C-T c.828C>T p.Ile276Ile Synonymous 1/1 - 1
16-89986498-A-G c.832A>G p.Lys278Glu Missense 1/1 - 7
16-89986501-AA-CT c.835_836delinsCT p.Asn279Leu Missense 1/1 - 1
16-89986501-A-G c.835A>G p.Asn279Asp Missense 1/1 - 2
16-89986502-A-G c.836A>G p.Asn279Ser Missense 1/1 - 3
16-89986503-C-A c.837C>A p.Asn279Lys Missense 1/1 - 4
16-89986505-T-G c.839T>G p.Phe280Cys Missense 1/1 - 1
16-89986508-A-G c.842A>G p.Asn281Ser Missense 1/1 - 1
16-89986510-C-T c.844C>T p.Leu282Phe Missense 1/1 - 1
16-89986516-C-T c.850C>T p.Leu284Phe Missense 1/1 - 1
16-89986519-G-A c.853G>A p.Ala285Thr Missense 1/1 - 1
16-89986520-C-G c.854C>G p.Ala285Gly Missense 1/1 - 1
16-89986522-C-G c.856C>G p.Leu286Val Missense 1/1 - 1
16-89986526-T-G c.860T>G p.Ile287Ser Missense 1/1 - 2
16-89986527-C-G c.861C>G p.Ile287Met Missense 1/1 - 3
16-89986528-CATC-C c.862_864del p.Ile288del InFrameDeletion 1/1 - 1
16-89986531-T-C c.865T>C p.Cys289Arg Missense 1/1 - 3
16-89986537-G-A c.871G>A p.Ala291Thr Missense 1/1 - 1
16-89986539-C-T c.873C>T p.Ala291Ala Synonymous 1/1 - 1
16-89986541-T-C c.875T>C p.Ile292Thr Missense 1/1 - 1
16-89986546-G-A c.880G>A p.Asp294Asn Missense 1/1 - 25
16-89986546-GAC-AAG c.880_882delinsAAG p.Asp294Lys Missense 1/1 - 1
16-89986546-G-C c.880G>C p.Asp294His Missense 1/1 - 171
16-89986547-A-C c.881A>C p.Asp294Ala Missense 1/1 - 1
16-89986555-A-G c.889A>G p.Ile297Val Missense 1/1 - 1
16-89986558-T-C c.892T>C p.Tyr298His Missense 1/1 - 2
16-89986559-A-G c.893A>G p.Tyr298Cys Missense 1/1 - 1
16-89986560-C-G c.894C>G p.Tyr298* Nonsense 1/1 - 1
16-89986560-C-T c.894C>T p.Tyr298Tyr Synonymous 1/1 - 2
16-89986561-G-A c.895G>A p.Ala299Thr Missense 1/1 - 1
16-89986566-C-T c.900C>T p.Phe300Phe Synonymous 1/1 - 6
16-89986567-C-T c.901C>T p.His301Tyr Missense 1/1 - 3
16-89986582-CGC-TGA c.916_918delinsTGA p.Arg306* Nonsense 1/1 - 3
16-89986582-C-T c.916C>T p.Arg306Cys Missense 1/1 - 3
16-89986583-G-A c.917G>A p.Arg306His Missense 1/1 - 6
16-89986585-A-G c.919A>G p.Arg307Gly Missense 1/1 - 3
16-89986585-AG-CC c.919_920delinsCC p.Arg307Pro Missense 1/1 - 1
16-89986589-C-T c.923C>T p.Thr308Met Missense 1/1 - 5
16-89986590-G-A c.924G>A p.Thr308Thr Synonymous 1/1 - 1
16-89986590-G-C c.924G>C p.Thr308Thr Synonymous 1/1 - 1
16-89986590-G-T c.924G>T p.Thr308Thr Synonymous 1/1 - 1
16-89986593-C-A c.927C>A p.Leu309Leu Synonymous 1/1 - 1
16-89986593-C-G c.927C>G p.Leu309Leu Synonymous 1/1 - 1
16-89986593-C-T c.927C>T p.Leu309Leu Synonymous 1/1 - 1
16-89986594-A-C c.928A>C p.Lys310Gln Missense 1/1 - 1
16-89986599-G-A c.933G>A p.Glu311Glu Synonymous 1/1 - 2
16-89986608-A-G c.942A>G p.Thr314Thr Synonymous 1/1 - 33
16-89986609-T-A c.943T>A p.Cys315Ser Missense 1/1 - 4
16-89986609-T-C c.943T>C p.Cys315Arg Missense 1/1 - 1
16-89986609-T-G c.943T>G p.Cys315Gly Missense 1/1 - 2
16-89986610-G-C c.944G>C p.Cys315Ser Missense 1/1 - 4
16-89986614-C-T c.948C>T p.Ser316Ser Synonymous 1/1 - 8
16-89986617-G-T c.951G>T p.Trp317Cys Missense 1/1 - 1
16-89986632-G-A c.*12G>A - 3-UTRSNV 1/1 - 2
16-89986752-T-C c.*132T>C - 3-UTRSNV 1/1 - 1
16-89986760-A-G c.*140A>G - 3-UTRSNV 1/1 - 1
16-89986777-C-A c.*157C>A - 3-UTRSNV 1/1 - 2
16-89986777-C-T c.*157C>T - 3-UTRSNV 1/1 - 2
16-89987201-A-G c.*581A>G - 3-UTRSNV 1/1 - 4
16-89987359-A-T c.*739A>T - 3-UTRSNV 1/1 - 1