CD109 — 241 ClinVar variants
All ClinVar germline CD109 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 221 flagged for review →
1 Conflicting · 13 Benign · 14 Likely benign · 213 Uncertain significance
Full CD109 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 221
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 108
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CD109 p.Ala1190Pro Uncertain significance Single submitter
- CD109 p.Ala1196Val Uncertain significance Single submitter
- CD109 p.Ala1265Ser Uncertain significance Single submitter
- CD109 p.Ala1265Val Uncertain significance Single submitter
- CD109 p.Ala18Thr Uncertain significance Single submitter
- CD109 p.Ala60Val Uncertain significance Single submitter
- CD109 p.Ala801Val Uncertain significance Single submitter
- CD109 p.Arg1227Ser Uncertain significance Single submitter
- CD109 p.Arg1271Thr Uncertain significance Single submitter
- CD109 p.Arg1414Cys Uncertain significance Single submitter
- CD109 p.Arg149Cys Uncertain significance Single submitter
- CD109 p.Arg27Trp Uncertain significance Single submitter
- CD109 p.Arg385Thr Uncertain significance Single submitter
- CD109 p.Arg577Lys Uncertain significance Single submitter
- CD109 p.Asn1024Ser Uncertain significance Single submitter
- CD109 p.Asn242Ser Uncertain significance Single submitter
- CD109 p.Asn378Ser Uncertain significance Single submitter
- CD109 p.Asn657Lys Uncertain significance Single submitter
- CD109 p.Asn909Ser Uncertain significance Single submitter
- CD109 p.Asp112Asn Uncertain significance Single submitter
- CD109 p.Asp1183Glu Uncertain significance Single submitter
- CD109 p.Asp170Glu Uncertain significance Single submitter
- CD109 p.Asp304Gly Uncertain significance Single submitter
- CD109 p.Asp539His Uncertain significance Single submitter
- CD109 p.Asp843Glu Uncertain significance Single submitter
- CD109 p.Asp902His Uncertain significance Single submitter
- CD109 p.Cys14Trp Uncertain significance Single submitter
- CD109 p.Gln1375Glu Uncertain significance Single submitter
- CD109 p.Gln582Glu Uncertain significance Single submitter
- CD109 p.Glu669Val Uncertain significance Single submitter
- CD109 p.Glu729Lys Uncertain significance Single submitter
- CD109 p.Gly1119Asp Uncertain significance Single submitter
- CD109 p.Gly34Arg Uncertain significance Single submitter
- CD109 p.Gly3Ser Uncertain significance Single submitter
- CD109 p.Gly3Val Uncertain significance Single submitter
- CD109 p.Gly489Ser Uncertain significance Single submitter
- CD109 p.Gly510Arg Uncertain significance Single submitter
- CD109 p.Gly588Arg Uncertain significance Single submitter
- CD109 p.Gly761Asp Uncertain significance Single submitter
- CD109 p.Gly803Cys Uncertain significance Single submitter
- CD109 p.Gly920Val Uncertain significance Single submitter
- CD109 p.Gly972Asp Uncertain significance Single submitter
- CD109 p.His676Arg Uncertain significance Single submitter
- CD109 p.Ile114Thr Uncertain significance Single submitter
- CD109 p.Ile1381Val Uncertain significance Single submitter
- CD109 p.Ile200Val Uncertain significance Single submitter
- CD109 p.Ile350Val Uncertain significance Single submitter
- CD109 p.Ile477Thr Uncertain significance Single submitter
- CD109 p.Ile549Val Uncertain significance Single submitter
- CD109 p.Ile586Val Uncertain significance Single submitter
- CD109 p.Ile651Asn Uncertain significance Single submitter
- CD109 p.Ile915Val Uncertain significance Single submitter
- CD109 p.Leu115Phe Uncertain significance Single submitter
- CD109 p.Leu1191Arg Uncertain significance Single submitter
- CD109 p.Leu553Phe Uncertain significance Single submitter
- CD109 p.Leu638His Uncertain significance Single submitter
- CD109 p.Lys1061Arg Uncertain significance Single submitter
- CD109 p.Lys1130Arg Uncertain significance Single submitter
- CD109 p.Lys1436Asn Uncertain significance Single submitter
- CD109 p.Lys471Arg Uncertain significance Single submitter
- CD109 p.Lys558Arg Uncertain significance Single submitter
- CD109 p.Lys775Thr Uncertain significance Single submitter
- CD109 p.Lys952Asn Uncertain significance Single submitter
- CD109 p.Met1121Leu Uncertain significance Single submitter
- CD109 p.Met1441Ile Uncertain significance Single submitter
- CD109 p.Met241Val Uncertain significance Single submitter
- CD109 p.Met299Val Uncertain significance Single submitter
- CD109 p.Met412Ile Uncertain significance Single submitter
- CD109 p.Met412Val Uncertain significance Single submitter
- CD109 p.Met454Val Uncertain significance Single submitter
- CD109 p.Met499Val Uncertain significance Single submitter
- CD109 p.Met627Val Uncertain significance Single submitter
- CD109 p.Pro1215Ala Uncertain significance Single submitter
- CD109 p.Pro1308Leu Uncertain significance Single submitter
- CD109 p.Pro1415Leu Uncertain significance Single submitter
- CD109 p.Pro199Leu Uncertain significance Single submitter
- CD109 p.Pro24Ser Uncertain significance Single submitter
- CD109 p.Pro318Arg Uncertain significance Single submitter
- CD109 p.Pro318Ser Uncertain significance Single submitter
- CD109 p.Pro527Ser Uncertain significance Single submitter
- CD109 p.Pro5Gln Uncertain significance Single submitter
- CD109 p.Pro839Ser Uncertain significance Single submitter
- CD109 p.Pro886Ser Uncertain significance Single submitter
- CD109 p.Ser1402Phe Uncertain significance Single submitter
- CD109 p.Ser1428Leu Uncertain significance Single submitter
- CD109 p.Ser1428Pro Uncertain significance Single submitter
- CD109 p.Ser196Phe Uncertain significance Single submitter
- CD109 p.Ser316Tyr Uncertain significance Single submitter
- CD109 p.Ser317Tyr Uncertain significance Single submitter
- CD109 p.Ser481Leu Uncertain significance Single submitter
- CD109 p.Ser683Gly Uncertain significance Single submitter
- CD109 p.Ser796Ala Uncertain significance Single submitter
- CD109 p.Ser875Asn Uncertain significance Single submitter
- CD109 p.Thr1088Ser Uncertain significance Single submitter
- CD109 p.Thr152Ala Uncertain significance Single submitter
- CD109 p.Thr381Ser Uncertain significance Single submitter
- CD109 p.Thr647Arg Uncertain significance Single submitter
- CD109 p.Thr647Met Uncertain significance Single submitter
- CD109 p.Thr70Ser Uncertain significance Single submitter
- CD109 p.Thr737Ile Uncertain significance Single submitter
- CD109 p.Thr840Ser Uncertain significance Single submitter
- CD109 p.Trp563Gly Uncertain significance Single submitter
- CD109 p.Tyr420His Uncertain significance Single submitter
- CD109 p.Val1068Met Uncertain significance Single submitter
- CD109 p.Val1238Ala Uncertain significance Single submitter
- CD109 p.Val15Leu Uncertain significance Single submitter
- CD109 p.Val422Ile Uncertain significance Single submitter
-
CD109 p.Glu1116Gln
Uncertain significance
No assertion criteria
High myopia
Predictors split 112
The independent predictors disagree with each other — read with care.
- CD109 p.Ile206Val Benign Multiple submitters
- CD109 p.Ala1104Val Uncertain significance Single submitter
- CD109 p.Ala1115Gly Uncertain significance Single submitter
- CD109 p.Ala1148Gly Uncertain significance Single submitter
- CD109 p.Ala1196Asp Uncertain significance Single submitter
- CD109 p.Ala1391Glu Uncertain significance Single submitter
- CD109 p.Ala1391Val Uncertain significance Single submitter
- CD109 p.Ala19Thr Uncertain significance Single submitter
- CD109 p.Ala722Ser Uncertain significance Single submitter
- CD109 p.Ala836Val Uncertain significance Single submitter
- CD109 p.Arg1012Ile Uncertain significance Single submitter
- CD109 p.Arg1032Gly Uncertain significance Single submitter
- CD109 p.Arg109Cys Uncertain significance Single submitter
- CD109 p.Arg1138Cys Uncertain significance Single submitter
- CD109 p.Arg1227Gly Uncertain significance Single submitter
- CD109 p.Arg1310Gly Likely benign Single submitter
- CD109 p.Arg374Cys Uncertain significance Single submitter
- CD109 p.Arg916Gly Uncertain significance Single submitter
- CD109 p.Arg958Gly Uncertain significance Single submitter
- CD109 p.Arg958Trp Uncertain significance Single submitter
- CD109 p.Asn1065Lys Uncertain significance Single submitter
- CD109 p.Asn887Lys Uncertain significance Single submitter
- CD109 p.Asn932Asp Uncertain significance Single submitter
- CD109 p.Asn96Lys Uncertain significance Single submitter
- CD109 p.Asp1141Gly Uncertain significance Single submitter
- CD109 p.Asp604Tyr Uncertain significance Single submitter
- CD109 p.Asp99Gly Uncertain significance Single submitter
- CD109 p.Gln416His Uncertain significance Single submitter
- CD109 p.Gly1025Ser Uncertain significance Single submitter
- CD109 p.Gly1040Asp Uncertain significance Single submitter
- CD109 p.Gly108Arg Uncertain significance Single submitter
- CD109 p.Gly1100Glu Uncertain significance Single submitter
- CD109 p.Gly1176Ser Likely benign Single submitter
- CD109 p.Gly377Asp Benign Single submitter
- CD109 p.Gly489Asp Uncertain significance Single submitter
- CD109 p.Gly504Val Uncertain significance Single submitter
- CD109 p.Gly724Cys Uncertain significance Single submitter
- CD109 p.Gly78Arg Uncertain significance Single submitter
- CD109 p.Gly891Ser Uncertain significance Single submitter
- CD109 p.Gly920Ser Uncertain significance Single submitter
- CD109 p.Gly922Ser Uncertain significance Single submitter
- CD109 p.His1425Asp Uncertain significance Single submitter
- CD109 p.Ile1164Val Uncertain significance Single submitter
- CD109 p.Ile166Phe Uncertain significance Single submitter
- CD109 p.Ile286Thr Uncertain significance Single submitter
- CD109 p.Ile832Met Uncertain significance Single submitter
- CD109 p.Ile897Asn Uncertain significance Single submitter
- CD109 p.Leu1283Val Uncertain significance Single submitter
- CD109 p.Leu13Phe Uncertain significance Single submitter
- CD109 p.Leu1445Pro Uncertain significance Single submitter
- CD109 p.Leu808Phe Uncertain significance Single submitter
- CD109 p.Leu868Trp Uncertain significance Single submitter
- CD109 p.Leu880Ser Uncertain significance Single submitter
- CD109 p.Leu939Met Uncertain significance Single submitter
- CD109 p.Leu966Pro Uncertain significance Single submitter
- CD109 p.Lys1103Glu Uncertain significance Single submitter
- CD109 p.Lys1189Glu Uncertain significance Single submitter
- CD109 p.Lys1189Thr Uncertain significance Single submitter
- CD109 p.Lys1288Glu Uncertain significance Single submitter
- CD109 p.Lys1339Gln Uncertain significance Single submitter
- CD109 p.Lys169Arg Uncertain significance Single submitter
- CD109 p.Lys282Glu Uncertain significance Single submitter
- CD109 p.Lys361Arg Uncertain significance Single submitter
- CD109 p.Lys786Arg Uncertain significance Single submitter
- CD109 p.Met1313Leu Uncertain significance Single submitter
- CD109 p.Met1313Val Uncertain significance Single submitter
- CD109 p.Phe447Leu Uncertain significance Single submitter
- CD109 p.Phe709Ser Uncertain significance Single submitter
- CD109 p.Phe820Leu Uncertain significance Single submitter
- CD109 p.Pro1137Leu Uncertain significance Single submitter
- CD109 p.Pro38Thr Uncertain significance Single submitter
- CD109 p.Pro423Ser Uncertain significance Single submitter
-
CD109 p.Pro570Leu
Likely benign
Single submitter
multiple sclerosis
- CD109 p.Pro583Leu Uncertain significance Single submitter
- CD109 p.Pro811Ser Uncertain significance Single submitter
- CD109 p.Pro885Leu Uncertain significance Single submitter
- CD109 p.Pro885Ser Uncertain significance Single submitter
- CD109 p.Pro931Ser Uncertain significance Single submitter
- CD109 p.Ser1334Arg Uncertain significance Single submitter
- CD109 p.Ser181Thr Uncertain significance Single submitter
- CD109 p.Ser425Arg Uncertain significance Single submitter
- CD109 p.Ser579Cys Uncertain significance Single submitter
- CD109 p.Ser716Phe Uncertain significance Single submitter
- CD109 p.Ser757Cys Uncertain significance Single submitter
- CD109 p.Ser975Gly Uncertain significance Single submitter
- CD109 p.Thr1210Met Likely benign Single submitter
- CD109 p.Thr1232Ile Benign Single submitter
- CD109 p.Thr251Met Uncertain significance Single submitter
- CD109 p.Thr281Ile Uncertain significance Single submitter
- CD109 p.Thr581Ile Uncertain significance Single submitter
- CD109 p.Thr693Ile Uncertain significance Single submitter
- CD109 p.Thr802Ala Uncertain significance Single submitter
- CD109 p.Thr817Ile Uncertain significance Single submitter
- CD109 p.Thr89Ile Uncertain significance Single submitter
- CD109 p.Thr986Ile Uncertain significance Single submitter
- CD109 p.Tyr1051Phe Uncertain significance Single submitter
- CD109 p.Tyr1147Cys Uncertain significance Single submitter
- CD109 p.Tyr1261Cys Uncertain significance Single submitter
- CD109 p.Tyr224Cys Uncertain significance Single submitter
- CD109 p.Tyr238Cys Uncertain significance Single submitter
- CD109 p.Tyr446Cys Uncertain significance Single submitter
- CD109 p.Tyr467His Uncertain significance Single submitter
- CD109 p.Tyr498Cys Uncertain significance Single submitter
- CD109 p.Tyr660Cys Uncertain significance Single submitter
- CD109 p.Tyr938Asn Uncertain significance Single submitter
- CD109 p.Val1053Ala Uncertain significance Single submitter
- CD109 p.Val1301Met Uncertain significance Single submitter
- CD109 p.Val1337Ala Uncertain significance Single submitter
- CD109 p.Val208Ala Uncertain significance Single submitter
- CD109 p.Val264Ile Uncertain significance Single submitter
- CD109 p.Val596Gly Uncertain significance Single submitter
- CD109 p.Val726Leu Uncertain significance Single submitter
All CD109 variants
Conflicting classifications of pathogenicity 1
- p.Thr1015Ser Single submitter ⚠
Benign 13
- p.Ile206Val Multiple submitters ⚠
- c.2337+3A>G Single submitter
- c.3356-5T>G Single submitter
- c.3768+6T>A Single submitter
- c.3768+9C>T Single submitter
- c.4060-10A>G Single submitter
- c.4162+3A>G Single submitter
- p.Gly377Asp Single submitter ⚠
- p.Leu641Phe Single submitter
- p.Ser1274= Single submitter
- p.Thr1232Ile Single submitter ⚠
- p.Thr1241= Single submitter
- p.Val1263= Single submitter
Likely benign 14
- p.Gln416Glu Multiple submitters
- c.1435-4C>T Single submitter
- p.Ala999= Single submitter
- p.Arg1310Gly Single submitter ⚠
- p.Asp1029Glu Single submitter
- p.Asp947Glu Single submitter
- p.Glu1398Lys Single submitter
- p.Gly1176Ser Single submitter ⚠
- p.His1296Arg Single submitter
- p.Leu382Pro Single submitter
- p.Pro570Leu Single submitter multiple sclerosis ⚠
- p.Ser1306Leu Single submitter
- p.Ser305Phe Single submitter
- p.Thr1210Met Single submitter ⚠
Uncertain significance 213
- p.Ala1104Val Single submitter ⚠
- p.Ala1115Gly Single submitter ⚠
- p.Ala1148Gly Single submitter ⚠
- p.Ala1190Pro Single submitter ⚠
- p.Ala1196Asp Single submitter ⚠
- p.Ala1196Val Single submitter ⚠
- p.Ala1265Ser Single submitter ⚠
- p.Ala1265Val Single submitter ⚠
- p.Ala1391Glu Single submitter ⚠
- p.Ala1391Val Single submitter ⚠
- p.Ala18Thr Single submitter ⚠
- p.Ala19Thr Single submitter ⚠
- p.Ala60Val Single submitter ⚠
- p.Ala722Ser Single submitter ⚠
- p.Ala801Val Single submitter ⚠
- p.Ala836Val Single submitter ⚠
- p.Arg1012Ile Single submitter ⚠
- p.Arg1032Gly Single submitter ⚠
- p.Arg109Cys Single submitter ⚠
- p.Arg1138Cys Single submitter ⚠
- p.Arg1227Gly Single submitter ⚠
- p.Arg1227Ser Single submitter ⚠
- p.Arg1271Thr Single submitter ⚠
- p.Arg1414Cys Single submitter ⚠
- p.Arg149Cys Single submitter ⚠
- p.Arg27Trp Single submitter ⚠
- p.Arg374Cys Single submitter ⚠
- p.Arg385Thr Single submitter ⚠
- p.Arg577Lys Single submitter ⚠
- p.Arg916Gly Single submitter ⚠
- p.Arg958Gly Single submitter ⚠
- p.Arg958Trp Single submitter ⚠
- p.Asn1024Ser Single submitter ⚠
- p.Asn1065Lys Single submitter ⚠
- p.Asn242Ser Single submitter ⚠
- p.Asn378Ser Single submitter ⚠
- p.Asn657Lys Single submitter ⚠
- p.Asn887Lys Single submitter ⚠
- p.Asn909Ser Single submitter ⚠
- p.Asn932Asp Single submitter ⚠
- p.Asn96Lys Single submitter ⚠
- p.Asp112Asn Single submitter ⚠
- p.Asp1141Gly Single submitter ⚠
- p.Asp1183Glu Single submitter ⚠
- p.Asp170Glu Single submitter ⚠
- p.Asp304Gly Single submitter ⚠
- p.Asp539His Single submitter ⚠
- p.Asp604Tyr Single submitter ⚠
- p.Asp843Glu Single submitter ⚠
- p.Asp902His Single submitter ⚠
- p.Asp99Gly Single submitter ⚠
- p.Cys14Trp Single submitter ⚠
- p.Gln1375Glu Single submitter ⚠
- p.Gln416His Single submitter ⚠
- p.Gln582Glu Single submitter ⚠
- p.Glu669Val Single submitter ⚠
- p.Glu729Lys Single submitter ⚠
- p.Gly1025Ser Single submitter ⚠
- p.Gly1040Asp Single submitter ⚠
- p.Gly108Arg Single submitter ⚠
- p.Gly1100Glu Single submitter ⚠
- p.Gly1119Asp Single submitter ⚠
- p.Gly34Arg Single submitter ⚠
- p.Gly3Ser Single submitter ⚠
- p.Gly3Val Single submitter ⚠
- p.Gly489Asp Single submitter ⚠
- p.Gly489Ser Single submitter ⚠
- p.Gly504Val Single submitter ⚠
- p.Gly510Arg Single submitter ⚠
- p.Gly588Arg Single submitter ⚠
- p.Gly724Cys Single submitter ⚠
- p.Gly761Asp Single submitter ⚠
- p.Gly78Arg Single submitter ⚠
- p.Gly803Cys Single submitter ⚠
- p.Gly891Ser Single submitter ⚠
- p.Gly920Ser Single submitter ⚠
- p.Gly920Val Single submitter ⚠
- p.Gly922Ser Single submitter ⚠
- p.Gly972Asp Single submitter ⚠
- p.His1425Asp Single submitter ⚠
- p.His676Arg Single submitter ⚠
- p.Ile114Thr Single submitter ⚠
- p.Ile1164Val Single submitter ⚠
- p.Ile1381Val Single submitter ⚠
- p.Ile166Phe Single submitter ⚠
- p.Ile200Val Single submitter ⚠
- p.Ile286Thr Single submitter ⚠
- p.Ile350Val Single submitter ⚠
- p.Ile477Thr Single submitter ⚠
- p.Ile549Val Single submitter ⚠
- p.Ile586Val Single submitter ⚠
- p.Ile651Asn Single submitter ⚠
- p.Ile832Met Single submitter ⚠
- p.Ile897Asn Single submitter ⚠
- p.Ile915Val Single submitter ⚠
- p.Leu115Phe Single submitter ⚠
- p.Leu1191Arg Single submitter ⚠
- p.Leu1283Val Single submitter ⚠
- p.Leu13Phe Single submitter ⚠
- p.Leu1445Pro Single submitter ⚠
- p.Leu553Phe Single submitter ⚠
- p.Leu638His Single submitter ⚠
- p.Leu808Phe Single submitter ⚠
- p.Leu868Trp Single submitter ⚠
- p.Leu880Ser Single submitter ⚠
- p.Leu939Met Single submitter ⚠
- p.Leu966Pro Single submitter ⚠
- p.Lys1061Arg Single submitter ⚠
- p.Lys1103Glu Single submitter ⚠
- p.Lys1130Arg Single submitter ⚠
- p.Lys1189Glu Single submitter ⚠
- p.Lys1189Thr Single submitter ⚠
- p.Lys1288Glu Single submitter ⚠
- p.Lys1339Gln Single submitter ⚠
- p.Lys1436Asn Single submitter ⚠
- p.Lys169Arg Single submitter ⚠
- p.Lys282Glu Single submitter ⚠
- p.Lys361Arg Single submitter ⚠
- p.Lys471Arg Single submitter ⚠
- p.Lys558Arg Single submitter ⚠
- p.Lys775Thr Single submitter ⚠
- p.Lys786Arg Single submitter ⚠
- p.Lys952Asn Single submitter ⚠
- p.Met1121Leu Single submitter ⚠
- p.Met1313Leu Single submitter ⚠
- p.Met1313Val Single submitter ⚠
- p.Met1441Ile Single submitter ⚠
- p.Met241Val Single submitter ⚠
- p.Met299Val Single submitter ⚠
- p.Met412Ile Single submitter ⚠
- p.Met412Val Single submitter ⚠
- p.Met454Val Single submitter ⚠
- p.Met499Val Single submitter ⚠
- p.Met627Val Single submitter ⚠
- p.Phe447Leu Single submitter ⚠
- p.Phe709Ser Single submitter ⚠
- p.Phe820Leu Single submitter ⚠
- p.Pro1137Leu Single submitter ⚠
- p.Pro1215Ala Single submitter ⚠
- p.Pro1308Leu Single submitter ⚠
- p.Pro1415Leu Single submitter ⚠
- p.Pro199Leu Single submitter ⚠
- p.Pro24Ser Single submitter ⚠
- p.Pro318Arg Single submitter ⚠
- p.Pro318Ser Single submitter ⚠
- p.Pro38Thr Single submitter ⚠
- p.Pro423Ser Single submitter ⚠
- p.Pro527Ser Single submitter ⚠
- p.Pro583Leu Single submitter ⚠
- p.Pro5Gln Single submitter ⚠
- p.Pro811Ser Single submitter ⚠
- p.Pro839Ser Single submitter ⚠
- p.Pro885Leu Single submitter ⚠
- p.Pro885Ser Single submitter ⚠
- p.Pro886Ser Single submitter ⚠
- p.Pro931Ser Single submitter ⚠
- p.Ser1334Arg Single submitter ⚠
- p.Ser1402Phe Single submitter ⚠
- p.Ser1428Leu Single submitter ⚠
- p.Ser1428Pro Single submitter ⚠
- p.Ser181Thr Single submitter ⚠
- p.Ser196Phe Single submitter ⚠
- p.Ser316Tyr Single submitter ⚠
- p.Ser317Tyr Single submitter ⚠
- p.Ser425Arg Single submitter ⚠
- p.Ser481Leu Single submitter ⚠
- p.Ser579Cys Single submitter ⚠
- p.Ser683Gly Single submitter ⚠
- p.Ser716Phe Single submitter ⚠
- p.Ser757Cys Single submitter ⚠
- p.Ser796Ala Single submitter ⚠
- p.Ser875Asn Single submitter ⚠
- p.Ser975Gly Single submitter ⚠
- p.Thr1088Ser Single submitter ⚠
- p.Thr152Ala Single submitter ⚠
- p.Thr251Met Single submitter ⚠
- p.Thr281Ile Single submitter ⚠
- p.Thr381Ser Single submitter ⚠
- p.Thr581Ile Single submitter ⚠
- p.Thr647Arg Single submitter ⚠
- p.Thr647Met Single submitter ⚠
- p.Thr693Ile Single submitter ⚠
- p.Thr70Ser Single submitter ⚠
- p.Thr737Ile Single submitter ⚠
- p.Thr802Ala Single submitter ⚠
- p.Thr817Ile Single submitter ⚠
- p.Thr840Ser Single submitter ⚠
- p.Thr89Ile Single submitter ⚠
- p.Thr986Ile Single submitter ⚠
- p.Trp563Gly Single submitter ⚠
- p.Tyr1051Phe Single submitter ⚠
- p.Tyr1147Cys Single submitter ⚠
- p.Tyr1261Cys Single submitter ⚠
- p.Tyr224Cys Single submitter ⚠
- p.Tyr238Cys Single submitter ⚠
- p.Tyr420His Single submitter ⚠
- p.Tyr446Cys Single submitter ⚠
- p.Tyr467His Single submitter ⚠
- p.Tyr498Cys Single submitter ⚠
- p.Tyr660Cys Single submitter ⚠
- p.Tyr938Asn Single submitter ⚠
- p.Val1053Ala Single submitter ⚠
- p.Val1068Met Single submitter ⚠
- p.Val1238Ala Single submitter ⚠
- p.Val1301Met Single submitter ⚠
- p.Val1337Ala Single submitter ⚠
- p.Val15Leu Single submitter ⚠
- p.Val208Ala Single submitter ⚠
- p.Val264Ile Single submitter ⚠
- p.Val422Ile Single submitter ⚠
- p.Val596Gly Single submitter ⚠
- p.Val726Leu Single submitter ⚠
- p.Glu1116Gln No assertion criteria High myopia ⚠