Myocilin.com | Myocilin allele-specific phenotype database

Known Myocilin variants

This database contains citations and variants.

Use the ideogram above to navigate to specific exon and intron regions located in the table below.
Click the individual variants to view allele specific information pertaining to the variant.

Location	Amino Acid Change	Nucleotide Change	Glaucoma Causing
Promoter	N/A	-2084G>T	Neutral polymorphism
Promoter	N/A	-1770G>A	Neutral polymorphism
Promoter	N/A	-1760insA	Neutral polymorphism
Promoter	N/A	-1422G>T	Neutral polymorphism
Promoter	N/A	-1378insT	Neutral polymorphism
Promoter	N/A	-1340delA	Neutral polymorphism
Promoter	N/A	-1333G>A	Neutral polymorphism
Promoter	N/A	-1081A>G	Neutral polymorphism
Promoter	N/A	-1000C>G	Neutral polymorphism
Promoter	N/A	-700_-699ins	Neutral polymorphism
Promoter	N/A	-467GT>CA	Neutral polymorphism
Promoter	N/A	-387C>T	Neutral polymorphism
Promoter	N/A	-339GT11-19	Neutral polymorphism
Promoter	N/A	-320C>T	Neutral polymorphism
Promoter	N/A	-315G>A	Neutral polymorphism
Promoter	N/A	-306G>A	Neutral polymorphism
Promoter	N/A	-306G>T	Neutral polymorphism
Promoter	N/A	-255T>C	Neutral polymorphism
Promoter	N/A	-241G>A	Neutral polymorphism
Promoter	N/A	-224T>C	Neutral polymorphism
Promoter	N/A	-190G>T	Neutral polymorphism
Promoter	N/A	-159T>C	Neutral polymorphism
Promoter	N/A	-153T>C	Neutral polymorphism
Promoter	N/A	-127T>C	Neutral polymorphism
Promoter	N/A	-126T>G	Neutral polymorphism
Promoter	N/A	-126T>C	Neutral polymorphism
Promoter	N/A	-92_-91delCT	Neutral polymorphism
Promoter	N/A	-83G>A	Neutral polymorphism
Promoter	N/A	-78T>G	Neutral polymorphism
Promoter	N/A	-77G>A	Neutral polymorphism
Promoter	N/A	-18C>T	Neutral polymorphism
Promoter	N/A	-8C>T	Neutral polymorphism
Exon 1	Phe4Ser	11T>C	Uncertain pathogenicity
Exon 1	Cys5Tyr	14G>A	Neutral polymorphism
Exon 1	Arg7His	20G>A	Uncertain pathogenicity
Exon 1	Cys8Ter	24C>A	Uncertain pathogenicity
Exon 1	Cys9Ser	26G>C	Uncertain pathogenicity
Exon 1	Gly12Arg	34G>C	Neutral polymorphism
Exon 1	Pro13Leu	38C>T	Uncertain pathogenicity
Exon 1	Pro13Pro	39T>G	Neutral polymorphism
Exon 1	Glu14Glu	42G>A	Neutral polymorphism
Exon 1	Pro16Leu	47C>T	Neutral polymorphism
Exon 1	Ala17Ser	49G>T	Neutral polymorphism
Exon 1	Val18Phe	52G>T	Neutral polymorphism
Exon 1	Gln19Lys	55C>A	Uncertain pathogenicity
Exon 1	Cys25SerfsTer65	56_72dup	Uncertain pathogenicity
Exon 1	Gln19His	57G>T	Neutral polymorphism
Exon 1	Cys25Arg	73T>C	Uncertain pathogenicity
Exon 1	Arg33Lys	98G>A	Neutral polymorphism
Exon 1	Lys39Arg	116A>G	Neutral polymorphism
Exon 1	Arg46Ter	136C>T	Neutral polymorphism
Exon 1	Cys47Cys	141C>T	Uncertain pathogenicity
Exon 1	Gln48His	144G>T	Neutral polymorphism
Exon 1	Ser52Gly	154A>G	Uncertain pathogenicity
Exon 1	Val53Met	157G>A	Neutral polymorphism
Exon 1	Val53Ala	158T>C	Neutral polymorphism
Exon 1	Ser55Thr	164G>C	Uncertain pathogenicity
Exon 1	Asn57Asp	169A>G	Neutral polymorphism
Exon 1	Asn57Ser	170A>G	Neutral polymorphism
Exon 1	Ser69Ser	Not Specified	Neutral polymorphism
Exon 1	Val70Val	210C>T	Neutral polymorphism
Exon 1	His72Gln	216T>G	Neutral polymorphism
Exon 1	Asn73Ser	218A>G	Neutral polymorphism
Exon 1	Arg76Lys	227G>A	Neutral polymorphism
Exon 1	Asp77Glu	Not Specified	Neutral polymorphism
Exon 1	Arg82Cys	244C>T	Neutral polymorphism
Exon 1	Arg82His	245G>A	Neutral polymorphism
Exon 1	Thr88Thr	Not Specified	Neutral polymorphism
Exon 1	Arg91Ter	271C>T	Uncertain pathogenicity
Exon 1	Leu95Pro	284T>C	Uncertain pathogenicity
Exon 1	Glu96Glu	288G>A	Neutral polymorphism
Exon 1	Gln101Gln	303A>G	Neutral polymorphism
Exon 1	Thr103Thr	309C>T	Neutral polymorphism
Exon 1	Ala108Gly	323C>G	Neutral polymorphism
Exon 1	Glu115Lys	343G>A	Uncertain pathogenicity
Exon 1	Leu117Pro	350T>C	Neutral polymorphism
Exon 1	Gln118Leu	353A>T	Neutral polymorphism
Exon 1	Gly122Ala	365G>C	Uncertain pathogenicity
Exon 1	Gly122Gly	366C>A	Neutral polymorphism
Exon 1	Gly122Gly	366C>T	Neutral polymorphism
Exon 1	Thr123Thr	369C>T	Neutral polymorphism
Exon 1	Leu124Leu	372G>C	Uncertain pathogenicity
Exon 1	Arg125SerfsTer35	375delG	Glaucoma causing mutation
Exon 1	Arg126Trp	376C>T	Neutral polymorphism
Exon 1	Arg126Gln	377G>A	Neutral polymorphism
Exon 1	Arg128Trp	382C>T	Neutral polymorphism
Exon 1	Arg128Arg	384G>C	Neutral polymorphism
Exon 1	Gln134Gln	402A>G	Uncertain pathogenicity
Exon 1	Thr135Ser	403A>T	Neutral polymorphism
Exon 1	Thr135Ile	404C>T	Neutral polymorphism
Exon 1	Arg136Ile	407G>T	Uncertain pathogenicity
Exon 1	Thr140Ser	419C>G	Uncertain pathogenicity
Exon 1	Ala141Ala	423C>T	Neutral polymorphism
Exon 1	Arg147Ter	439C>T	Neutral polymorphism
Exon 1	Arg147Gln	440G>A	Uncertain pathogenicity
Exon 1	Lys156Ter	466A>T	Neutral polymorphism
Exon 1	Lys156Lys	468G>A	Neutral polymorphism
Exon 1	Arg158Gln	473G>A	Neutral polymorphism
Exon 1	Arg158Leu	473G>T	Neutral polymorphism
Exon 1	Leu159Leu	477A>G	Neutral polymorphism
Exon 1	Gln161Arg	482A>G	Neutral polymorphism
Exon 1	Glu162dup	484_486dup	Uncertain pathogenicity
Exon 1	Leu166Leu	498G>C	Neutral polymorphism
Exon 1	Arg168Arg	504G>A	Uncertain pathogenicity
Exon 1	Ser173Thr	518G>C	Uncertain pathogenicity
Exon 1	Glu176ArgfsTer2	526delG	Uncertain pathogenicity
Exon 1	Ala178Thr	532G>A	Uncertain pathogenicity
Exon 1	Leu180Gln	539T>A	Uncertain pathogenicity
Exon 1	Leu180Leu	Not Specified	Neutral polymorphism
Exon 1	Gly183Ser	547G>A	Neutral polymorphism
Exon 1	Arg189Gln	566G>A	Neutral polymorphism
Exon 1	Asp190Tyr	568G>T	Uncertain pathogenicity
Exon 1	Thr191Ile	572C>T	Neutral polymorphism
Exon 1	Arg200LysfsTer16	599delG	Uncertain pathogenicity
Intron 1	N/A	604+13A>C	Neutral polymorphism
Intron 1	N/A	604+14G>A	Neutral polymorphism
Intron 1	N/A	604+16G>T	Neutral polymorphism
Intron 1	N/A	604+19G>C	Neutral polymorphism
Intron 1	N/A	604+40G>C	Neutral polymorphism
Intron 1	N/A	604+50G>A	Neutral polymorphism
Intron 1	N/A	604+69G>A	Neutral polymorphism
Intron 1	N/A	604+228A>T	Neutral polymorphism
Intron 1	N/A	604+658G>T	Neutral polymorphism
Intron 1	N/A	604+660G>T	Neutral polymorphism
Intron 1	N/A	604+667C>T	Neutral polymorphism
Intron 1	N/A	604+669G>T	Neutral polymorphism
Intron 1	N/A	604+673T>G	Neutral polymorphism
Intron 1	N/A	604+4607C>T	Neutral polymorphism
Intron 1	N/A	604+4614A>C	Neutral polymorphism
Intron 1	N/A	604+4617C>G	Neutral polymorphism
Intron 1	N/A	604+4623T>C	Neutral polymorphism
Intron 1	N/A	605-48G>A	Neutral polymorphism
Intron 1	N/A	605-210delT	Neutral polymorphism
Intron 1	N/A	605-280G>T	Neutral polymorphism
Intron 1	N/A	605-332G>A	Neutral polymorphism
Exon 2	Ser203Phe	608C>T	Uncertain pathogenicity
Exon 2	Thr204Met	611C>T	Uncertain pathogenicity
Exon 2	Thr204Thr	612G>T	Neutral polymorphism
Exon 2	Asp208Tyr	622G>T	Uncertain pathogenicity
Exon 2	Asp208Glu	624C>G	Neutral polymorphism
Exon 2	Thr209Asn	626C>A	Uncertain pathogenicity
Exon 2	Leu215Gln	644T>A	Glaucoma causing mutation
Exon 2	Leu215Pro	644T>C	Neutral polymorphism
Exon 2	Lys216Lys	648G>A	Uncertain pathogenicity
Exon 2	Glu218Lys	652G>A	Uncertain pathogenicity
Exon 2	Glu218Glu	654G>A	Neutral polymorphism
Exon 2	Thr220Ile	659C>T	Neutral polymorphism
Exon 2	Pro223Ser	667C>T	Uncertain pathogenicity
Exon 2	Arg226Gln	677G>A	Neutral polymorphism
Exon 2	Ile227PhefsTer2	679delA	Neutral polymorphism
Exon 2	Leu228Ser	683T>C	Uncertain pathogenicity
Exon 2	Glu230Lys	688G>A	Uncertain pathogenicity
Exon 2	Ser238Asn	713G>A	Uncertain pathogenicity
Exon 2	Glu240Gly	719A>G	Uncertain pathogenicity
Exon 2	Thr243Thr	Not Specified	Neutral polymorphism
Exon 2	Gly244Arg	730G>A	Neutral polymorphism
Intron 2	N/A	730+3A>G	Neutral polymorphism
Intron 2	N/A	730+35G>A	Neutral polymorphism
Intron 2	N/A	730+172C>A	Neutral polymorphism
Intron 2	N/A	731-8T>C	Neutral polymorphism
Intron 2	N/A	731-23G>A	Neutral polymorphism
Intron 2	N/A	731-43T>C	Neutral polymorphism
Intron 2	N/A	731-73C>T	Neutral polymorphism
Intron 2	N/A	731-205A>C	Neutral polymorphism
Exon 3	Gly244Ala	731G>C	Uncertain pathogenicity
Exon 3	Gly244Val	731G>T	Uncertain pathogenicity
Exon 3	Cys245Gly	733T>G	Uncertain pathogenicity
Exon 3	Cys245Tyr	734G>A	Uncertain pathogenicity
Exon 3	Gly246Arg	736G>A	Glaucoma causing mutation
Exon 3	Glu247AspfsTer2	741del	Uncertain pathogenicity
Exon 3	Val251Ala	752T>C	Glaucoma causing mutation
Exon 3	Gly252Arg	754G>A	Glaucoma causing mutation
Exon 3	Glu253Lys	757G>A	Uncertain pathogenicity
Exon 3	Pro254Thr	760C>A	Glaucoma causing mutation
Exon 3	Pro254Leu	761C>T	Glaucoma causing mutation
Exon 3	Pro254Arg	761C>G	Glaucoma causing mutation
Exon 3	Leu255Pro	764T>C	Glaucoma causing mutation
Exon 3	Thr256Met	767C>T	Neutral polymorphism
Exon 3	Thr259Ser	775A>T	Neutral polymorphism
Exon 3	Ala260Ala	780A>G	Neutral polymorphism
Exon 3	Glu261Lys	781G>A	Glaucoma causing mutation
Exon 3	Lys266Lys	798G>A	Neutral polymorphism
Exon 3	Arg272Ter	814C>T	Uncertain pathogenicity
Exon 3	Arg272Gly	814C>G	Uncertain pathogenicity
Exon 3	Arg272Arg	816A>T	Neutral polymorphism
Exon 3	Pro274Arg	821C>G	Glaucoma causing mutation
Exon 3	Lys275SerfsTer71	822delC	Glaucoma causing mutation
Exon 3	Gln282ArgfsTer64	844delC	Uncertain pathogenicity
Exon 3	Glu283Glu	849G>A	Neutral polymorphism
Exon 3	Thr285Met	854C>T	Glaucoma causing mutation
Exon 3	Thr285Thr	855G>T	Neutral polymorphism
Exon 3	Trp286Arg	856T>C	Uncertain pathogenicity
Exon 3	Ile288Met	864C>G	Neutral polymorphism
Exon 3	Ile288Ile	864C>T	Neutral polymorphism
Exon 3	Thr290Ala	868A>G	Neutral polymorphism
Exon 3	Thr293Lys	878C>A	Neutral polymorphism
Exon 3	Thr293Thr	879G>A	Neutral polymorphism
Exon 3	Arg296Cys	886C>T	Glaucoma causing mutation
Exon 3	Arg296His	887G>A	Uncertain pathogenicity
Exon 3	Gln297His	891G>C	Glaucoma causing mutation
Exon 3	Phe299Phe	897T>C	Uncertain pathogenicity
Exon 3	Glu300Lys	898G>A	Uncertain pathogenicity
Exon 3	Asp302Asp	906C>T	Neutral polymorphism
Exon 3	Leu303Ile	907C>A	Uncertain pathogenicity
Exon 3	Ile304Ile	912C>T	Neutral polymorphism
Exon 3	Gln309Gln	927G>A	Neutral polymorphism
Exon 3	Gly310Asp	929G>A	Uncertain pathogenicity
Exon 3	Ser313Phe	938C>T	Glaucoma causing mutation
Exon 3	Leu318Leu	952C>T	Neutral polymorphism
Exon 3	Arg320Arg	960G>A	Neutral polymorphism
Exon 3	Glu323Lys	967G>A	Glaucoma causing mutation
Exon 3	Thr325Met	974C>T	Neutral polymorphism
Exon 3	Thr325Thr	975G>A	Neutral polymorphism
Exon 3	Gly326Ser	976G>A	Glaucoma causing mutation
Exon 3	Gly326Arg	976G>C	Glaucoma causing mutation
Exon 3	Val329Met	985G>A	Neutral polymorphism
Exon 3	Val329Val	Not Specified	Neutral polymorphism
Exon 3	Ser331Ser	Not Specified	Neutral polymorphism
Exon 3	Ser331Thr	991T>A	Uncertain pathogenicity
Exon 3	Ser331Leu	992C>T	Uncertain pathogenicity
Exon 3	Ser333Cys	997A>T	Neutral polymorphism
Exon 3	Leu334Pro	1001T>C	Glaucoma causing mutation
Exon 3	Phe336Phe	1008C>T	Neutral polymorphism
Exon 3	Gln337Glu	1009C>G	Glaucoma causing mutation
Exon 3	Gln337ArgfsTer9	1009delC	Uncertain pathogenicity
Exon 3	Gln337Arg	1010A>G	Glaucoma causing mutation
Exon 3	Gln337His	1011G>T	Uncertain pathogenicity
Exon 3	Glu340Glu	1020G>A	Neutral polymorphism
Exon 3	Ser341Pro	1021T>C	Glaucoma causing mutation
Exon 3	Arg342Gly	1024A>G	Neutral polymorphism
Exon 3	Arg342Lys	1025G>A	Uncertain pathogenicity
Exon 3	Thr343Asn	1028C>A	Uncertain pathogenicity
Exon 3	Ile345Met	1035A>G	Glaucoma causing mutation
Exon 3	Arg346Thr	1037G>C	Glaucoma causing mutation
Exon 3	Tyr347Ter	1041T>G	Glaucoma causing mutation
Exon 3	Tyr347Tyr	1041T>C	Neutral polymorphism
Exon 3	Thr351Thr	1053C>T	Neutral polymorphism
Exon 3	Glu352Lys	1054G>A	Neutral polymorphism
Exon 3	Thr353Ile	1058C>T	Neutral polymorphism
Exon 3	Ile360Asn	1079T>A	Uncertain pathogenicity
Exon 3	Pro361Ser	1081C>T	Glaucoma causing mutation
Exon 3	Gly362GlufsTer45	1084delG	Glaucoma causing mutation
Exon 3	Ala363Thr	1087G>A	Glaucoma causing mutation
Exon 3	Gly364Val	1091G>T	Glaucoma causing mutation
Exon 3	Gly367Arg	1099G>A	Glaucoma causing mutation
Exon 3	Gly367_Gln368delinsVal	1100_1103delinsT	Glaucoma causing mutation
Exon 3	Gln368Ter	1102C>T	Glaucoma causing mutation
Exon 3	Phe369Leu	1105T>C	Uncertain pathogenicity
Exon 3	Phe369Leu	1107C>G	Uncertain pathogenicity
Exon 3	Pro370Leu	1109C>T	Glaucoma causing mutation
Exon 3	Pro370Pro	1110G>A	Neutral polymorphism
Exon 3	Tyr371Asp	1111T>G	Glaucoma causing mutation
Exon 3	Trp373Ter	1119G>A	Uncertain pathogenicity
Exon 3	Gly374Val	1121G>T	Glaucoma causing mutation
Exon 3	Thr377Met	1130C>T	Glaucoma causing mutation
Exon 3	Thr377Arg	1130C>G	Glaucoma causing mutation
Exon 3	Thr377Lys	1130C>A	Glaucoma causing mutation
Exon 3	Thr377Thr	Not Specified	Neutral polymorphism
Exon 3	Asp378Asn	1132G>A	Uncertain pathogenicity
Exon 3	Asp378Gly	1133A>G	Glaucoma causing mutation
Exon 3	Ile379Thr	1136T>C	Uncertain pathogenicity
Exon 3	Asp380Tyr	1138G>T	Glaucoma causing mutation
Exon 3	Asp380His	1138G>C	Glaucoma causing mutation
Exon 3	Asp380Asn	1138G>A	Uncertain pathogenicity
Exon 3	Asp380Ala	1139A>C	Glaucoma causing mutation
Exon 3	Asp380Gly	1139A>G	Uncertain pathogenicity
Exon 3	Asp384Asn	1150G>A	Glaucoma causing mutation
Exon 3	Asp384His	1150G>C	Glaucoma causing mutation
Exon 3	Asp384Gly	1151A>G	Glaucoma causing mutation
Exon 3	Glu385Lys	1153G>A	Uncertain pathogenicity
Exon 3	Gly387Asp	1160G>A	Glaucoma causing mutation
Exon 3	Ser393Asn	1178G>A	Glaucoma causing mutation
Exon 3	Ser393Arg	1179C>G	Uncertain pathogenicity
Exon 3	Thr394Thr	1182C>T	Neutral polymorphism
Exon 3	Asp395Asn	1183G>A	Neutral polymorphism
Exon 3	Asp395Glu	1185T>G	Neutral polymorphism
Exon 3	Asp395_Glu396insAspPro	1187_1188insCCCAGA	Uncertain pathogenicity
Exon 3	Glu396dup	1187_1189dup	Glaucoma causing mutation
Exon 3	Glu396Glu	1188G>A	Neutral polymorphism
Exon 3	Lys398Arg	1193A>G	Neutral polymorphism
Exon 3	Gly399Val	1196G>T	Glaucoma causing mutation
Exon 3	Gly399Asp	1196G>A	Glaucoma causing mutation
Exon 3	Val402Ile	1204G>A	Neutral polymorphism
Exon 3	Leu403Leu	1209C>T	Neutral polymorphism
Exon 3	Glu409Asp	1227G>C	Neutral polymorphism
Exon 3	Leu413Leu	1239C>T	Neutral polymorphism
Exon 3	Glu414Lys	1240G>A	Neutral polymorphism
Exon 3	Thr419Ala	1255A>G	Uncertain pathogenicity
Exon 3	Asn420Tyr	1258A>T	Uncertain pathogenicity
Exon 3	Asn420Lys	1260C>G	Neutral polymorphism
Exon 3	Arg422Cys	1264C>T	Uncertain pathogenicity
Exon 3	Arg422His	1265G>A	Uncertain pathogenicity
Exon 3	Lys423Glu	1267A>G	Glaucoma causing mutation
Exon 3	Lys423Gln	1267A>C	Uncertain pathogenicity
Exon 3	Ser425Pro	1273T>C	Glaucoma causing mutation
Exon 3	Ser425Ter	1274C>G	Uncertain pathogenicity
Exon 3	Val426Phe	1276G>T	Glaucoma causing mutation
Exon 3	Val426Val	1278C>T	Neutral polymorphism
Exon 3	Ala427Thr	1279G>A	Uncertain pathogenicity
Exon 3	Asn428Ser	1283A>G	Neutral polymorphism
Exon 3	Phe430Leu	1288T>C	Glaucoma causing mutation
Exon 3	Phe430Phe	1290C>T	Uncertain pathogenicity
Exon 3	Cys433Arg	1297T>C	Glaucoma causing mutation
Exon 3	Cys433Tyr	1298G>A	Glaucoma causing mutation
Exon 3	Gly434Ser	1300G>A	Uncertain pathogenicity
Exon 3	Gly434Gly	1302C>T	Neutral polymorphism
Exon 3	Tyr437His	1309T>C	Glaucoma causing mutation
Exon 3	Thr438Ile	1313C>T	Glaucoma causing mutation
Exon 3	Thr438Thr	1314C>T	Neutral polymorphism
Exon 3	Val439Val	1317C>G	Neutral polymorphism
Exon 3	Val439Val	1317C>T	Neutral polymorphism
Exon 3	Ala445Val	1334C>T	Neutral polymorphism
Exon 3	Asp446Tyr	1336G>T	Neutral polymorphism
Exon 3	Ala447Thr	1339G>A	Uncertain pathogenicity
Exon 3	Ala447Val	1340C>T	Uncertain pathogenicity
Exon 3	Thr448Pro	1342A>C	Glaucoma causing mutation
Exon 3	Val449Ile	1345G>A	Neutral polymorphism
Exon 3	Asn450Asp	1348A>G	Glaucoma causing mutation
Exon 3	Asn450Tyr	1348A>T	Glaucoma causing mutation
Exon 3	Asn450Ser	1349A>G	Uncertain pathogenicity
Exon 3	Tyr453MetfsTer11	1357delT	Uncertain pathogenicity
Exon 3	Thr455Lys	1364C>A	Glaucoma causing mutation
Exon 3	Gly458Asp	1373G>A	Glaucoma causing mutation
Exon 3	Ile465Met	1395C>G	Glaucoma causing mutation
Exon 3	Arg470Cys	1408C>T	Glaucoma causing mutation
Exon 3	Arg470His	1409G>A	Neutral polymorphism
Exon 3	Tyr471Cys	1412A>G	Uncertain pathogenicity
Exon 3	Tyr473Cys	1418A>G	Neutral polymorphism
Exon 3	Met476Arg	1427T>G	Neutral polymorphism
Exon 3	Ile477Asn	1430T>A	Glaucoma causing mutation
Exon 3	Ile477Ser	1430T>G	Uncertain pathogenicity
Exon 3	Asp478Tyr	1432G>T	Uncertain pathogenicity
Exon 3	Asp478Glu	1434C>G	Uncertain pathogenicity
Exon 3	Tyr479His	1435T>C	Glaucoma causing mutation
Exon 3	Asn480Lys	1440C>A	Glaucoma causing mutation
Exon 3	Asn480Lys	1440C>G	Glaucoma causing mutation
Exon 3	Pro481Thr	1441C>A	Uncertain pathogenicity
Exon 3	Pro481Ser	1441C>T	Uncertain pathogenicity
Exon 3	Pro481Arg	1442C>G	Uncertain pathogenicity
Exon 3	Pro481Leu	1442C>T	Glaucoma causing mutation
Exon 3	Glu483Ter	1447G>T	Uncertain pathogenicity
Exon 3	Lys484Lys	1452G>A	Uncertain pathogenicity
Exon 3	Leu486Phe	1456C>T	Glaucoma causing mutation
Exon 3	Ala488Val	1463C>T	Neutral polymorphism
Exon 3	Ala488Ala	1464C>T	Neutral polymorphism
Exon 3	Trp489CysfsTer10	1466_1467insC	Uncertain pathogenicity
Exon 3	Trp489Ter	1466G>A	Uncertain pathogenicity
Exon 3	Val495Ile	1483G>A	Uncertain pathogenicity
Exon 3	Thr496Pro	1486A>C	Uncertain pathogenicity
Exon 3	Asp498His	1492G>C	Neutral polymorphism
Exon 3	Ile499Phe	1495A>T	Glaucoma causing mutation
Exon 3	Ile499Ser	1496T>G	Uncertain pathogenicity
Exon 3	Lys500Arg	1499A>G	Uncertain pathogenicity
Exon 3	Ser502Pro	1504T>C	Uncertain pathogenicity
Exon 3	Ter505Trpext*42	1515A>G	Glaucoma causing mutation
	N/A	*4G>C	Neutral polymorphism
	N/A	*15G>A	Neutral polymorphism
	N/A	*20A>G	Neutral polymorphism
	N/A	*52G>T	Neutral polymorphism
	N/A	*54G>C	Neutral polymorphism
	N/A	*73G>C	Neutral polymorphism
	N/A	*291A>G	Neutral polymorphism
	N/A	*393C>G	Neutral polymorphism
	N/A	*426C>T	Neutral polymorphism
	1q24.3_1q31.2del	N/A	Neutral polymorphism
	1q23_1q25del	N/A	Neutral polymorphism

Criteria for identification of pathogenic mutations

In assigning pathogenic status to a given variant the following issues were taken into consideration:

Predicted disruption of protein translation (e.g. frame-shift mutations and premature stop codons)
Sequence variant frequency in control (unaffected) populations (those with a frequency > 1% were classified as polymorphisms)
Variant location (i.e. protein homology domain; cross species conservation of coding sequence)
Evidence for partial segregation with the phenotype within a family
Results of solubility studies

Mutation names are set according to the Human Genome Nomenclature Working Group: (Hum Mutat 11:1-3, 1998; Hum Mutat 15:7-12, 2000; Hum Mutat 22:181-182, 2003).