MYOC myocilin

Canonical transcript: NM_000261

360 unique variant annotations were identified in 351 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-171604992-C-G c.*73G>C - 3-UTRSNV 3/3 - 1
1-171604992-C-T c.*73G>A - 3-UTRSNV 3/3 - 1
1-171605076-A-G c.1504T>C p.Ser502Pro Missense 3/3 - 5
1-171605081-T-C c.1499A>G p.Lys500Arg Missense 3/3 - 6
1-171605084-A-C c.1496T>G p.Ile499Ser Missense 3/3 - 2
1-171605085-T-A c.1495A>T p.Ile499Phe Missense 3/3 - 12
1-171605097-C-T c.1483G>A p.Val495Ile Missense 3/3 - 4
1-171605116-G-A c.1464C>T p.Ala488Ala Synonymous 3/3 - 5
1-171605123-A-G c.1457T>C p.Leu486Pro Missense 3/3 - 1
1-171605124-G-A c.1456C>T p.Leu486Phe Missense 3/3 - 2
1-171605133-C-A c.1447G>T p.Glu483* Nonsense 3/3 - 1
1-171605134-C-A c.1446G>T p.Leu482Leu Synonymous 3/3 - 1
1-171605134-C-G c.1446G>C p.Leu482Leu Synonymous 3/3 - 1
1-171605134-C-T c.1446G>A p.Leu482Leu Synonymous 3/3 - 1
1-171605136-G-A c.1444C>T p.Leu482Leu Synonymous 3/3 - 1
1-171605138-G-A c.1442C>T p.Pro481Leu Missense 3/3 - 7
1-171605138-G-C c.1442C>G p.Pro481Arg Missense 3/3 - 2
1-171605139-G-A c.1441C>T p.Pro481Ser Missense 3/3 - 3
1-171605139-G-T c.1441C>A p.Pro481Thr Missense 3/3 - 7
1-171605140-G-A c.1440C>T p.Asn480Asn Synonymous 3/3 - 1
1-171605140-G-T c.1440C>A p.Asn480Lys Missense 3/3 - 20
1-171605145-A-G c.1435T>C p.Tyr479His Missense 3/3 - 4
1-171605148-C-A c.1432G>T p.Asp478Tyr Missense 3/3 - 1
1-171605150-A-C c.1430T>G p.Ile477Ser Missense 3/3 - 13
1-171605150-A-T c.1430T>A p.Ile477Asn Missense 3/3 - 23
1-171605153-A-C c.1427T>G p.Met476Arg Missense 3/3 - 1
1-171605162-T-C c.1418A>G p.Tyr473Cys Missense 3/3 - 3
1-171605168-T-C c.1412A>G p.Tyr471Cys Missense 3/3 - 9
1-171605171-C-T c.1409G>A p.Arg470His Missense 3/3 - 1
1-171605172-G-A c.1408C>T p.Arg470Cys Missense 3/3 - 7
1-171605185-G-C c.1395C>G p.Ile465Met Missense 3/3 - 5
1-171605194-G-GA c.1385_1386insT p.Leu463Profs*10 Frameshift 3/3 - 1
1-171605216-G-T c.1364C>A p.Thr455Lys Missense 3/3 - 4
1-171605222-ATAA-A c.1357_1359del p.Tyr453del InFrameDeletion 3/3 - 1
1-171605224-AA-A c.1357del p.Tyr453Metfs*11 Frameshift 3/3 - 3
1-171605232-T-A c.1348A>T p.Asn450Tyr Missense 3/3 - 6
1-171605232-T-C c.1348A>G p.Asn450Asp Missense 3/3 - 6
1-171605238-T-G c.1342A>C p.Thr448Pro Missense 3/3 - 6
1-171605240-G-A c.1340C>T p.Ala447Val Missense 3/3 - 1
1-171605244-C-A c.1336G>T p.Asp446Tyr Missense 3/3 - 1
1-171605246-G-A c.1334C>T p.Ala445Val Missense 3/3 - 12
1-171605263-G-A c.1317C>T p.Val439Val Synonymous 3/3 - 2
1-171605263-G-C c.1317C>G p.Val439Val Synonymous 3/3 - 2
1-171605263-G-T c.1317C>A p.Val439Val Synonymous 3/3 - 2
1-171605266-G-A c.1314C>T p.Thr438Thr Synonymous 3/3 - 2
1-171605267-G-A c.1313C>T p.Thr438Ile Missense 3/3 - 3
1-171605270-T-A c.1310A>T p.Tyr437Phe Missense 3/3 - 1
1-171605271-A-G c.1309T>C p.Tyr437His Missense 3/3 - 99
1-171605278-G-A c.1302C>T p.Gly434Gly Synonymous 3/3 - 1
1-171605278-G-C c.1302C>G p.Gly434Gly Synonymous 3/3 - 1
1-171605278-G-T c.1302C>A p.Gly434Gly Synonymous 3/3 - 1
1-171605280-C-T c.1300G>A p.Gly434Ser Missense 3/3 - 5
1-171605283-A-G c.1297T>C p.Cys433Arg Missense 3/3 - 15
1-171605290-G-C c.1290C>G p.Phe430Leu Missense 3/3 - 1
1-171605290-G-T c.1290C>A p.Phe430Leu Missense 3/3 - 1
1-171605292-A-G c.1288T>C p.Phe430Leu Missense 3/3 - 1
1-171605297-T-C c.1283A>G p.Asn428Ser Missense 3/3 - 1
1-171605301-C-T c.1279G>A p.Ala427Thr Missense 3/3 - 11
1-171605302-G-A c.1278C>T p.Val426Val Synonymous 3/3 - 2
1-171605304-C-A c.1276G>T p.Val426Phe Missense 3/3 - 9
1-171605307-A-G c.1273T>C p.Ser425Pro Missense 3/3 - 3
1-171605312-TT-GG c.1267_1268delinsCC p.Lys423Pro Missense 3/3 - 1
1-171605313-T-C c.1267A>G p.Lys423Glu Missense 3/3 - 34
1-171605315-C-T c.1265G>A p.Arg422His Missense 3/3 - 4
1-171605316-G-A c.1264C>T p.Arg422Cys Missense 3/3 - 5
1-171605325-T-C c.1255A>G p.Thr419Ala Missense 3/3 - 1
1-171605340-C-T c.1240G>A p.Glu414Lys Missense 3/3 - 3
1-171605341-G-A c.1239C>T p.Leu413Leu Synonymous 3/3 - 1
1-171605354-T-G c.1226A>C p.Glu409Ala Missense 3/3 - 1
1-171605369-GA-GT c.1210delinsA p.Ser404Thr Missense 3/3 - 1
1-171605376-C-T c.1204G>A p.Val402Ile Missense 3/3 - 3
1-171605384-C-A c.1196G>T p.Gly399Val Missense 3/3 - 10
1-171605384-C-T c.1196G>A p.Gly399Asp Missense 3/3 - 3
1-171605387-T-C c.1193A>G p.Lys398Arg Missense 3/3 - 22
1-171605392-C-A c.1188G>T p.Glu396Asp Missense 3/3 - 1
1-171605392-C-G c.1188G>C p.Glu396Asp Missense 3/3 - 1
1-171605392-C-T c.1188G>A p.Glu396Glu Synonymous 3/3 - 9
1-171605395-A-C c.1185T>G p.Asp395Glu Missense 3/3 - 1
1-171605398-G-A c.1182C>T p.Thr394Thr Synonymous 3/3 - 2
1-171605401-G-C c.1179C>G p.Ser393Arg Missense 3/3 - 6
1-171605401-G-T c.1179C>A p.Ser393Arg Missense 3/3 - 6
1-171605403-T-G c.1177A>C p.Ser393Arg Missense 3/3 - 6
1-171605402-C-G c.1178G>C p.Ser393Thr Missense 3/3 - 1
1-171605402-C-T c.1178G>A p.Ser393Asn Missense 3/3 - 5
1-171605420-C-T c.1160G>A p.Gly387Asp Missense 3/3 - 1
1-171605424-C-A c.1156G>T p.Ala386Ser Missense 3/3 - 2
1-171605427-C-T c.1153G>A p.Glu385Lys Missense 3/3 - 1
1-171605429-T-C c.1151A>G p.Asp384Gly Missense 3/3 - 2
1-171605430-C-G c.1150G>C p.Asp384His Missense 3/3 - 1
1-171605430-C-T c.1150G>A p.Asp384Asn Missense 3/3 - 3
1-171605440-G-A c.1140C>T p.Asp380Asp Synonymous 3/3 - 1
1-171605441-T-C c.1139A>G p.Asp380Gly Missense 3/3 - 7
1-171605441-T-G c.1139A>C p.Asp380Ala Missense 3/3 - 17
1-171605442-C-G c.1138G>C p.Asp380His Missense 3/3 - 7
1-171605442-C-T c.1138G>A p.Asp380Asn Missense 3/3 - 8
1-171605447-T-C c.1133A>G p.Asp378Gly Missense 3/3 - 1
1-171605449-C-A c.1131G>T p.Thr377Thr Synonymous 3/3 - 1
1-171605449-C-G c.1131G>C p.Thr377Thr Synonymous 3/3 - 1
1-171605449-C-T c.1131G>A p.Thr377Thr Synonymous 3/3 - 1
1-171605450-G-A c.1130C>T p.Thr377Met Missense 3/3 - 39
1-171605450-G-T c.1130C>A p.Thr377Lys Missense 3/3 - 2
1-171605459-C-A c.1121G>T p.Gly374Val Missense 3/3 - 1
1-171605461-C-T c.1119G>A p.Trp373* Nonsense 3/3 - 1
1-171605462-C-T c.1118G>A p.Trp373* Nonsense 3/3 - 1
1-171605469-A-C c.1111T>G p.Tyr371Asp Missense 3/3 - 2
1-171605470-C-T c.1110G>A p.Pro370Pro Synonymous 3/3 - 2
1-171605471-G-A c.1109C>T p.Pro370Leu Missense 3/3 - 69
1-171605471-G-C c.1109C>G p.Pro370Arg Missense 3/3 - 1
1-171605473-G-C c.1107C>G p.Phe369Leu Missense 3/3 - 2
1-171605473-G-T c.1107C>A p.Phe369Leu Missense 3/3 - 2
1-171605475-A-G c.1105T>C p.Phe369Leu Missense 3/3 - 2
1-171605478-G-A c.1102C>T p.Gln368* Nonsense 3/3 - 77
1-171605481-C-T c.1099G>A p.Gly367Arg Missense 3/3 - 24
1-171605489-C-A c.1091G>T p.Gly364Val Missense 3/3 - 21
1-171605493-C-T c.1087G>A p.Ala363Thr Missense 3/3 - 6
1-171605499-G-A c.1081C>T p.Pro361Ser Missense 3/3 - 6
1-171605501-A-T c.1079T>A p.Ile360Asn Missense 3/3 - 6
1-171605506-CCTTCTCAGCCTTC-C c.1065_1077del p.Ala356Serfs*47 Frameshift 3/3 - 1
1-171605521-TG-AC c.1058_1059delinsGT p.Thr353Ser Missense 3/3 - 1
1-171605522-G-A c.1058C>T p.Thr353Ile Missense 3/3 - 20
1-171605526-C-G c.1054G>C p.Glu352Gln Missense 3/3 - 3
1-171605526-C-T c.1054G>A p.Glu352Lys Missense 3/3 - 18
1-171605527-G-A c.1053C>T p.Thr351Thr Synonymous 3/3 - 2
1-171605528-GT-TA c.1051_1052delinsTA p.Thr351Tyr Missense 3/3 - 1
1-171605539-A-C c.1041T>G p.Tyr347* Nonsense 3/3 - 3
1-171605539-A-G c.1041T>C p.Tyr347Tyr Synonymous 3/3 - 32
1-171605539-A-T c.1041T>A p.Tyr347* Nonsense 3/3 - 2
1-171605541-A-G c.1039T>C p.Tyr347His Missense 3/3 - 2
1-171605543-C-G c.1037G>C p.Arg346Thr Missense 3/3 - 3
1-171605545-T-C c.1035A>G p.Ile345Met Missense 3/3 - 6
1-171605555-C-T c.1025G>A p.Arg342Lys Missense 3/3 - 7
1-171605559-A-G c.1021T>C p.Ser341Pro Missense 3/3 - 4
1-171605570-T-C c.1010A>G p.Gln337Arg Missense 3/3 - 8
1-171605571-G-A c.1009C>T p.Gln337* Nonsense 3/3 - 3
1-171605571-G-C c.1009C>G p.Gln337Glu Missense 3/3 - 1
1-171605579-A-G c.1001T>C p.Leu334Pro Missense 3/3 - 1
1-171605583-T-A c.997A>T p.Ser333Cys Missense 3/3 - 1
1-171605586-C-G c.994G>C p.Gly332Arg Missense 3/3 - 1
1-171605586-C-T c.994G>A p.Gly332Arg Missense 3/3 - 1
1-171605588-G-A c.992C>T p.Ser331Leu Missense 3/3 - 1
1-171605589-A-T c.991T>A p.Ser331Thr Missense 3/3 - 2
1-171605593-C-A c.987G>T p.Val329Val Synonymous 3/3 - 2
1-171605593-C-G c.987G>C p.Val329Val Synonymous 3/3 - 2
1-171605593-C-T c.987G>A p.Val329Val Synonymous 3/3 - 2
1-171605595-C-T c.985G>A p.Val329Met Missense 3/3 - 4
1-171605604-C-T c.976G>A p.Gly326Ser Missense 3/3 - 2
1-171605605-C-A c.975G>T p.Thr325Thr Synonymous 3/3 - 17
1-171605605-C-G c.975G>C p.Thr325Thr Synonymous 3/3 - 17
1-171605605-C-T c.975G>A p.Thr325Thr Synonymous 3/3 - 18
1-171605613-C-T c.967G>A p.Glu323Lys Missense 3/3 - 11
1-171605628-G-A c.952C>T p.Leu318Leu Synonymous 3/3 - 2
1-171605629-TAT-TTT c.950delinsA p.Ile317Lys Missense 3/3 - 1
1-171605642-G-A c.938C>T p.Ser313Phe Missense 3/3 - 6
1-171605653-C-T c.927G>A p.Gln309Gln Synonymous 3/3 - 1
1-171605661-A-G c.919T>C p.Phe307Leu Missense 3/3 - 1
1-171605668-G-A c.912C>T p.Ile304Ile Synonymous 3/3 - 1
1-171605668-G-T c.912C>A p.Ile304Ile Synonymous 3/3 - 1
1-171605674-G-A c.906C>T p.Asp302Asp Synonymous 3/3 - 2
1-171605682-C-T c.898G>A p.Glu300Lys Missense 3/3 - 9
1-171605689-C-A c.891G>T p.Gln297His Missense 3/3 - 2
1-171605689-C-G c.891G>C p.Gln297His Missense 3/3 - 2
1-171605701-C-A c.879G>T p.Thr293Thr Synonymous 3/3 - 1
1-171605701-C-G c.879G>C p.Thr293Thr Synonymous 3/3 - 1
1-171605701-C-T c.879G>A p.Thr293Thr Synonymous 3/3 - 1
1-171605702-G-T c.878C>A p.Thr293Lys Missense 3/3 - 14
1-171605716-G-A c.864C>T p.Ile288Ile Synonymous 3/3 - 5
1-171605724-A-G c.856T>C p.Trp286Arg Missense 3/3 - 12
1-171605724-A-T c.856T>A p.Trp286Arg Missense 3/3 - 12
1-171605725-C-A c.855G>T p.Thr285Thr Synonymous 3/3 - 11
1-171605725-C-T c.855G>A p.Thr285Thr Synonymous 3/3 - 11
1-171605726-G-A c.854C>T p.Thr285Met Missense 3/3 - 1
1-171605757-T-A c.823A>T p.Lys275* Nonsense 3/3 - 2
1-171605759-G-C c.821C>G p.Pro274Arg Missense 3/3 - 3
1-171605764-T-A c.816A>T p.Arg272Arg Synonymous 3/3 - 1
1-171605766-G-A c.814C>T p.Arg272* Nonsense 3/3 - 3
1-171605766-G-C c.814C>G p.Arg272Gly Missense 3/3 - 7
1-171605777-C-A c.803G>T p.Gly268Val Missense 3/3 - 1
1-171605782-C-T c.798G>A p.Lys266Lys Synonymous 3/3 - 2
1-171605799-C-T c.781G>A p.Glu261Lys Missense 3/3 - 1
1-171605800-T-A c.780A>T p.Ala260Ala Synonymous 3/3 - 1
1-171605800-T-C c.780A>G p.Ala260Ala Synonymous 3/3 - 1
1-171605800-T-G c.780A>C p.Ala260Ala Synonymous 3/3 - 1
1-171605813-G-A c.767C>T p.Thr256Met Missense 3/3 - 3
1-171605816-A-G c.764T>C p.Leu255Pro Missense 3/3 - 1
1-171605819-G-A c.761C>T p.Pro254Leu Missense 3/3 - 1
1-171605819-G-C c.761C>G p.Pro254Arg Missense 3/3 - 3
1-171605826-C-T c.754G>A p.Gly252Arg Missense 3/3 - 20
1-171605828-A-G c.752T>C p.Val251Ala Missense 3/3 - 7
1-171605841-C-T c.739G>A p.Glu247Lys Missense 3/3 - 1
1-171605844-C-T c.736G>A p.Gly246Arg Missense 3/3 - 12
1-171605846-C-A c.734G>T p.Cys245Phe Missense 3/3 - 1
1-171605846-C-T c.734G>A p.Cys245Tyr Missense 3/3 - 14
1-171605849-C-A c.731G>T p.Gly244Val Missense 3/3 - 3
1-171605849-C-G c.731G>C p.Gly244Ala Missense 3/3 - 2
1-171605922-G-A c.731-73C>T - IntronicSNV - 2/2 2
1-171606054-T-G c.731-205A>C - IntronicSNV - 2/2 5
1-171606450-A-G c.731-601T>C - IntronicSNV - 2/2 1
1-171606739-T-C c.731-890A>G - IntronicSNV - 2/2 2
1-171606739-T-G c.731-890A>C - IntronicSNV - 2/2 2
1-171607702-C-G c.730+35G>C - IntronicSNV - 2/2 7
1-171607702-C-T c.730+35G>A - IntronicSNV - 2/2 8
1-171607738-G-A c.729C>T p.Thr243Thr Synonymous 2/3 - 1
1-171607738-G-C c.729C>G p.Thr243Thr Synonymous 2/3 - 1
1-171607738-G-T c.729C>A p.Thr243Thr Synonymous 2/3 - 1
1-171607748-T-C c.719A>G p.Glu240Gly Missense 2/3 - 2
1-171607750-TCC-TGT c.715_716delinsAC p.Gly239Thr Missense 2/3 - 1
1-171607759-G-A c.708C>T p.Leu236Leu Synonymous 2/3 - 1
1-171607759-G-C c.708C>G p.Leu236Leu Synonymous 2/3 - 1
1-171607759-G-T c.708C>A p.Leu236Leu Synonymous 2/3 - 1
1-171607784-A-G c.683T>C p.Leu228Ser Missense 2/3 - 2
1-171607790-C-T c.677G>A p.Arg226Gln Missense 2/3 - 1
1-171607813-C-T c.654G>A p.Glu218Glu Synonymous 2/3 - 1
1-171607815-C-T c.652G>A p.Glu218Lys Missense 2/3 - 1
1-171607819-C-T c.648G>A p.Lys216Lys Synonymous 2/3 - 3
1-171607823-A-G c.644T>C p.Leu215Pro Missense 2/3 - 4
1-171607823-A-T c.644T>A p.Leu215Gln Missense 2/3 - 2
1-171607841-G-T c.626C>A p.Thr209Asn Missense 2/3 - 1
1-171607843-G-A c.624C>T p.Asp208Asp Synonymous 2/3 - 4
1-171607843-G-C c.624C>G p.Asp208Glu Missense 2/3 - 15
1-171607845-C-A c.622G>T p.Asp208Tyr Missense 2/3 - 1
1-171607855-C-A c.612G>T p.Thr204Thr Synonymous 2/3 - 6
1-171607855-C-G c.612G>C p.Thr204Thr Synonymous 2/3 - 5
1-171607855-CGT-GAC c.610_612delinsGTC p.Thr204Val Missense 2/3 - 1
1-171607855-C-T c.612G>A p.Thr204Thr Synonymous 2/3 - 6
1-171607856-G-A c.611C>T p.Thr204Met Missense 2/3 - 1
1-171607859-G-A c.608C>T p.Ser203Phe Missense 2/3 - 2
1-171608236-G-C c.605-374C>G - IntronicSNV - 1/2 1
1-171608558-G-A c.605-696C>T - IntronicSNV - 1/2 1
1-171609481-T-A c.605-1619A>T - IntronicSNV - 1/2 3
1-171609481-T-C c.605-1619A>G - IntronicSNV - 1/2 3
1-171610740-C-G c.605-2878G>C - IntronicSNV - 1/2 1
1-171610740-C-T c.605-2878G>A - IntronicSNV - 1/2 1
1-171610959-C-A c.605-3097G>T - IntronicSNV - 1/2 2
1-171610959-C-G c.605-3097G>C - IntronicSNV - 1/2 2
1-171611054-A-G c.605-3192T>C - IntronicSNV - 1/2 1
1-171611850-T-A c.605-3988A>T - IntronicSNV - 1/2 1
1-171612203-C-A c.605-4341G>T - IntronicSNV - 1/2 2
1-171612203-C-T c.605-4341G>A - IntronicSNV - 1/2 2
1-171612267-G-A c.605-4405C>T - IntronicSNV - 1/2 4
1-171613082-G-C c.605-5220C>G - IntronicSNV - 1/2 1
1-171613756-C-T c.605-5894G>A - IntronicSNV - 1/2 3
1-171613811-G-A c.605-5949C>T - IntronicSNV - 1/2 1
1-171614114-C-T c.605-6252G>A - IntronicSNV - 1/2 1
1-171614305-T-C c.605-6443A>G - IntronicSNV - 1/2 1
1-171614370-T-C c.605-6508A>G - IntronicSNV - 1/2 2
1-171614683-G-A c.604+6465C>T - IntronicSNV - 1/2 2
1-171614683-G-T c.604+6465C>A - IntronicSNV - 1/2 2
1-171615206-C-T c.604+5942G>A - IntronicSNV - 1/2 1
1-171615419-G-T c.604+5729C>A - IntronicSNV - 1/2 1
1-171617321-T-C c.604+3827A>G - IntronicSNV - 1/2 1
1-171617393-C-T c.604+3755G>A - IntronicSNV - 1/2 1
1-171618246-T-C c.604+2902A>G - IntronicSNV - 1/2 2
1-171618656-T-C c.604+2492A>G - IntronicSNV - 1/2 2
1-171618656-T-G c.604+2492A>C - IntronicSNV - 1/2 2
1-171620488-C-A c.604+660G>T - IntronicSNV - 1/2 1
1-171620490-C-A c.604+658G>T - IntronicSNV - 1/2 1
1-171620579-A-G c.604+569T>C - IntronicSNV - 1/2 2
1-171620634-A-T c.604+514T>A - IntronicSNV - 1/2 2
1-171620834-A-G c.604+314T>C - IntronicSNV - 1/2 1
1-171621098-C-T c.604+50G>A - IntronicSNV - 1/2 1
1-171621135-T-G c.604+13A>C - IntronicSNV - 1/2 1
1-171621186-C-T c.566G>A p.Arg189Gln Missense 1/3 - 2
1-171621205-C-T c.547G>A p.Gly183Ser Missense 1/3 - 2
1-171621220-C-T c.532G>A p.Ala178Thr Missense 1/3 - 1
1-171621227-C-A c.525G>T p.Gln175His Missense 1/3 - 1
1-171621227-C-G c.525G>C p.Gln175His Missense 1/3 - 1
1-171621248-CCT-CAT c.503delinsT p.Arg168Met Missense 1/3 - 1
1-171621254-C-A c.498G>T p.Leu166Leu Synonymous 1/3 - 1
1-171621254-C-G c.498G>C p.Leu166Leu Synonymous 1/3 - 1
1-171621254-C-T c.498G>A p.Leu166Leu Synonymous 1/3 - 1
1-171621256-G-A c.496C>T p.Leu166Leu Synonymous 1/3 - 1
1-171621270-T-C c.482A>G p.Gln161Arg Missense 1/3 - 1
1-171621275-T-A c.477A>T p.Leu159Leu Synonymous 1/3 - 7
1-171621275-T-C c.477A>G p.Leu159Leu Synonymous 1/3 - 8
1-171621275-T-G c.477A>C p.Leu159Leu Synonymous 1/3 - 7
1-171621277-G-A c.475C>T p.Leu159Leu Synonymous 1/3 - 7
1-171621279-C-T c.473G>A p.Arg158Gln Missense 1/3 - 5
1-171621309-T-G c.443A>C p.Asp148Ala Missense 1/3 - 2
1-171621329-G-A c.423C>T p.Ala141Ala Synonymous 1/3 - 2
1-171621329-G-C c.423C>G p.Ala141Ala Synonymous 1/3 - 2
1-171621329-G-T c.423C>A p.Ala141Ala Synonymous 1/3 - 2
1-171621333-G-C c.419C>G p.Thr140Ser Missense 1/3 - 1
1-171621337-C-A c.415G>T p.Glu139* Nonsense 1/3 - 1
1-171621348-G-A c.404C>T p.Thr135Ile Missense 1/3 - 1
1-171621375-C-T c.377G>A p.Arg126Gln Missense 1/3 - 2
1-171621376-G-A c.376C>T p.Arg126Trp Missense 1/3 - 11
1-171621380-C-G c.372G>C p.Leu124Leu Synonymous 1/3 - 1
1-171621383-G-A c.369C>T p.Thr123Thr Synonymous 1/3 - 4
1-171621386-G-A c.366C>T p.Gly122Gly Synonymous 1/3 - 12
1-171621386-G-T c.366C>A p.Gly122Gly Synonymous 1/3 - 11
1-171621407-C-A c.345G>T p.Glu115Asp Missense 1/3 - 1
1-171621407-C-G c.345G>C p.Glu115Asp Missense 1/3 - 1
1-171621408-T-G c.344A>C p.Glu115Ala Missense 1/3 - 1
1-171621409-C-T c.343G>A p.Glu115Lys Missense 1/3 - 1
1-171621411-T-C c.341A>G p.Gln114Arg Missense 1/3 - 1
1-171621429-G-C c.323C>G p.Ala108Gly Missense 1/3 - 1
1-171621443-G-A c.309C>T p.Thr103Thr Synonymous 1/3 - 1
1-171621449-T-C c.303A>G p.Gln101Gln Synonymous 1/3 - 1
1-171621464-C-T c.288G>A p.Glu96Glu Synonymous 1/3 - 2
1-171621468-A-G c.284T>C p.Leu95Pro Missense 1/3 - 3
1-171621480-CG-GC c.271_272delinsGC p.Arg91Ala Missense 1/3 - 1
1-171621481-G-A c.271C>T p.Arg91* Nonsense 1/3 - 4
1-171621488-G-A c.264C>T p.Thr88Thr Synonymous 1/3 - 2
1-171621488-G-C c.264C>G p.Thr88Thr Synonymous 1/3 - 2
1-171621488-G-T c.264C>A p.Thr88Thr Synonymous 1/3 - 2
1-171621493-C-G c.259G>C p.Ala87Pro Missense 1/3 - 1
1-171621504-AA-CC c.247_248delinsGG p.Leu83Gly Missense 1/3 - 1
1-171621507-C-T c.245G>A p.Arg82His Missense 1/3 - 2
1-171621508-G-A c.244C>T p.Arg82Cys Missense 1/3 - 6
1-171621513-GTGC-TCCCCTTCCCCTTT c.236_239delinsAAAGGGGAAGGGGA p.Ser79Lysfs*89 Frameshift 1/3 - 1
1-171621521-G-C c.231C>G p.Asp77Glu Missense 1/3 - 1
1-171621521-G-T c.231C>A p.Asp77Glu Missense 1/3 - 1
1-171621525-C-T c.227G>A p.Arg76Lys Missense 1/3 - 50
1-171621534-T-C c.218A>G p.Asn73Ser Missense 1/3 - 2
1-171621545-T-A c.207A>T p.Ser69Ser Synonymous 1/3 - 2
1-171621545-T-C c.207A>G p.Ser69Ser Synonymous 1/3 - 2
1-171621545-T-G c.207A>C p.Ser69Ser Synonymous 1/3 - 2
1-171621558-C-G c.194G>C p.Ser65Thr Missense 1/3 - 5
1-171621563-C-T c.189G>A p.Glu63Glu Synonymous 1/3 - 1
1-171621570-C-T c.182G>A p.Cys61Tyr Missense 1/3 - 1
1-171621582-T-C c.170A>G p.Asn57Ser Missense 1/3 - 2
1-171621583-T-C c.169A>G p.Asn57Asp Missense 1/3 - 1
1-171621588-C-G c.164G>C p.Ser55Thr Missense 1/3 - 1
1-171621594-A-G c.158T>C p.Val53Ala Missense 1/3 - 4
1-171621608-C-A c.144G>T p.Gln48His Missense 1/3 - 17
1-171621616-G-A c.136C>T p.Arg46* Nonsense 1/3 - 15
1-171621616-G-C c.136C>G p.Arg46Gly Missense 1/3 - 1
1-171621616-G-T c.136C>A p.Arg46Arg Synonymous 1/3 - 1
1-171621623-C-T c.129G>A p.Gln43Gln Synonymous 1/3 - 1
1-171621636-T-C c.116A>G p.Lys39Arg Missense 1/3 - 1
1-171621636-TT-GC c.115_116delinsGC p.Lys39Ala Missense 1/3 - 1
1-171621642-AG-GC c.109_110delinsGC p.Leu37Ala Missense 1/3 - 4
1-171621654-C-T c.98G>A p.Arg33Lys Missense 1/3 - 1
1-171621664-C-T c.88G>A p.Val30Met Missense 1/3 - 1
1-171621679-A-G c.73T>C p.Cys25Arg Missense 1/3 - 5
1-171621684-AG-GC c.67_68delinsGC p.Leu23Ala Missense 1/3 - 6
1-171621690-AG-GA c.61_62delinsTC p.Leu21Ser Missense 1/3 - 1
1-171621695-C-A c.57G>T p.Gln19His Missense 1/3 - 9
1-171621695-C-G c.57G>C p.Gln19His Missense 1/3 - 7
1-171621695-C-T c.57G>A p.Gln19Gln Synonymous 1/3 - 1
1-171621699-A-G c.53T>C p.Val18Ala Missense 1/3 - 1
1-171621703-C-A c.49G>T p.Ala17Ser Missense 1/3 - 3
1-171621705-G-A c.47C>T p.Pro16Leu Missense 1/3 - 3
1-171621713-A-C c.39T>G p.Pro13Pro Synonymous 1/3 - 8
1-171621713-A-G c.39T>C p.Pro13Pro Synonymous 1/3 - 8
1-171621713-A-T c.39T>A p.Pro13Pro Synonymous 1/3 - 6
1-171621714-G-A c.38C>T p.Pro13Leu Missense 1/3 - 4
1-171621714-GG-TT c.37_38delinsAA p.Pro13Asn Missense 1/3 - 1
1-171621716-CC-AC c.36delinsT p.Gly12Gly Missense 1/3 - 1
1-171621717-C-A c.35G>T p.Gly12Val Missense 1/3 - 3
1-171621718-C-G c.34G>C p.Gly12Arg Missense 1/3 - 6
1-171621723-CT-CC c.28delinsG p.Ser10Gly Missense 1/3 - 2
1-171621723-CT-GC c.28_29delinsGC p.Ser10Ala Missense 1/3 - 8
1-171621724-T-A c.28A>T p.Ser10Cys Missense 1/3 - 3
1-171621726-C-G c.26G>C p.Cys9Ser Missense 1/3 - 1
1-171621727-A-T c.25T>A p.Cys9Ser Missense 1/3 - 1
1-171621728-G-T c.24C>A p.Cys8* Nonsense 1/3 - 1
1-171621746-C-T c.6G>A p.Arg2Arg Synonymous 1/3 - 3
1-171621748-T-G c.4A>C p.Arg2Arg Synonymous 1/3 - 3
1-171621764-G-A c.-13C>T - 5-UTRSNV 1/3 - 1