DNMBP — 297 ClinVar variants
All ClinVar germline DNMBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 232 flagged for review →
4 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 32 Benign · 32 Likely benign · 227 Uncertain significance
Full DNMBP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 232
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 lean, ClinVar uncertain 146
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DNMBP p.Ala112Thr Uncertain significance Single submitter
- DNMBP p.Ala1453Val Uncertain significance Single submitter
- DNMBP p.Ala1497Val Uncertain significance Single submitter
- DNMBP p.Ala152Val Uncertain significance Single submitter
- DNMBP p.Arg1003Gln Uncertain significance Single submitter
- DNMBP p.Arg1075Gln Uncertain significance Single submitter
- DNMBP p.Arg1124Cys Uncertain significance Single submitter
- DNMBP p.Arg113Gln Uncertain significance Single submitter
- DNMBP p.Arg1154Gln Uncertain significance Single submitter
- DNMBP p.Arg1294Gln Uncertain significance Single submitter
- DNMBP p.Arg1326Cys Uncertain significance Single submitter
- DNMBP p.Arg1326His Uncertain significance Single submitter
- DNMBP p.Arg1349Gly Uncertain significance Single submitter
- DNMBP p.Arg1349His Uncertain significance Single submitter
- DNMBP p.Arg1376His Uncertain significance Single submitter
- DNMBP p.Arg1445Lys Uncertain significance Single submitter
- DNMBP p.Arg1482Gln Uncertain significance Single submitter
- DNMBP p.Arg1503Gly Uncertain significance Single submitter
- DNMBP p.Arg288Lys Uncertain significance Single submitter
- DNMBP p.Arg295Trp Uncertain significance Single submitter
- DNMBP p.Arg493Ser Uncertain significance Single submitter
- DNMBP p.Arg575His Uncertain significance Single submitter
- DNMBP p.Arg590Gln Uncertain significance Single submitter
- DNMBP p.Asn1002Ser Uncertain significance Single submitter
- DNMBP p.Asn1181Lys Uncertain significance Single submitter
- DNMBP p.Asn1297Ser Uncertain significance Single submitter
- DNMBP p.Asn1347Ser Uncertain significance Single submitter
- DNMBP p.Asn1530Asp Uncertain significance Single submitter
- DNMBP p.Asn741Ser Uncertain significance Single submitter
- DNMBP p.Asp1130Ala Uncertain significance Single submitter
- DNMBP p.Asp1143Val Uncertain significance Single submitter
- DNMBP p.Asp1354Asn Uncertain significance Single submitter
- DNMBP p.Asp1451Asn Uncertain significance Single submitter
- DNMBP p.Asp278Val Uncertain significance Single submitter
- DNMBP p.Asp371Glu Uncertain significance Single submitter
- DNMBP p.Asp399Gly Uncertain significance Single submitter
- DNMBP p.Asp628Val Uncertain significance Single submitter
- DNMBP p.Asp899Asn Uncertain significance Single submitter
- DNMBP p.Asp981Val Uncertain significance Single submitter
- DNMBP p.Cys1182Ser Uncertain significance Single submitter
- DNMBP p.Cys1434Tyr Uncertain significance Single submitter
- DNMBP p.Cys670Ser Uncertain significance Single submitter
- DNMBP p.Cys75Arg Uncertain significance Single submitter
- DNMBP p.Cys909Tyr Uncertain significance Single submitter
- DNMBP p.Gln1272Arg Uncertain significance Single submitter
- DNMBP p.Gln1402Arg Uncertain significance Single submitter
- DNMBP p.Gln1402His Uncertain significance Single submitter
- DNMBP p.Gln428Arg Uncertain significance Single submitter
- DNMBP p.Glu1071Gly Uncertain significance Single submitter
- DNMBP p.Glu1158Lys Uncertain significance Single submitter
- DNMBP p.Glu1214Gly Uncertain significance Single submitter
- DNMBP p.Glu1240Lys Uncertain significance Single submitter
- DNMBP p.Glu1366Lys Uncertain significance Single submitter
- DNMBP p.Glu1513Gly Uncertain significance Single submitter
- DNMBP p.Glu188Ala Uncertain significance Single submitter
- DNMBP p.Glu314Ala Uncertain significance Single submitter
- DNMBP p.Glu407Gly Uncertain significance Single submitter
- DNMBP p.Glu450Gln Uncertain significance Single submitter
- DNMBP p.Glu739Lys Uncertain significance Single submitter
- DNMBP p.Glu748Gly Uncertain significance Single submitter
- DNMBP p.Glu81Gly Uncertain significance Single submitter
- DNMBP p.Glu825Asp Uncertain significance Single submitter
- DNMBP p.Glu881Asp Uncertain significance Single submitter
- DNMBP p.Glu906Lys Uncertain significance Single submitter
- DNMBP p.Gly1336Ala Uncertain significance Single submitter
- DNMBP p.Gly1380Asp Uncertain significance Single submitter
- DNMBP p.Gly1514Asp Uncertain significance Single submitter
- DNMBP p.Gly435Arg Uncertain significance Single submitter
- DNMBP p.Gly565Arg Uncertain significance Single submitter
- DNMBP p.Gly677Ser Uncertain significance Single submitter
- DNMBP p.Gly679Asp Uncertain significance Single submitter
- DNMBP p.Gly67Glu Uncertain significance Single submitter
- DNMBP p.Gly908Val Uncertain significance Single submitter
- DNMBP p.Gly97Asp Uncertain significance Single submitter
- DNMBP p.His1367Pro Uncertain significance Single submitter
- DNMBP p.His339Arg Uncertain significance Single submitter
- DNMBP p.His437Arg Uncertain significance Single submitter
- DNMBP p.His500Tyr Uncertain significance Single submitter
- DNMBP p.His873Tyr Uncertain significance Single submitter
- DNMBP p.Ile10Val Uncertain significance Single submitter
- DNMBP p.Ile1104Met Uncertain significance Single submitter
- DNMBP p.Ile573Val Uncertain significance Single submitter
- DNMBP p.Ile61Val Uncertain significance Single submitter
- DNMBP p.Ile989Thr Uncertain significance Single submitter
- DNMBP p.Leu124Pro Uncertain significance Single submitter
- DNMBP p.Leu1289Val Uncertain significance Single submitter
- DNMBP p.Leu532Arg Uncertain significance Single submitter
- DNMBP p.Leu625Ser Uncertain significance Single submitter
- DNMBP p.Leu973Gln Uncertain significance Single submitter
- DNMBP p.Leu975Arg Uncertain significance Single submitter
- DNMBP p.Lys606Arg Uncertain significance Single submitter
- DNMBP p.Met1065Thr Uncertain significance Single submitter
- DNMBP p.Met1065Val Uncertain significance Single submitter
- DNMBP p.Met1070Thr Uncertain significance Single submitter
- DNMBP p.Met1321Val Uncertain significance Single submitter
- DNMBP p.Met147Val Uncertain significance Single submitter
- DNMBP p.Met523Thr Uncertain significance Single submitter
- DNMBP p.Met831Ile Uncertain significance Single submitter
- DNMBP p.Met833Val Uncertain significance Single submitter
- DNMBP p.Met927Ile Uncertain significance Single submitter
- DNMBP p.Met986Val Uncertain significance Single submitter
- DNMBP p.Phe1023Val Uncertain significance Single submitter
- DNMBP p.Pro1409Leu Uncertain significance Single submitter
- DNMBP p.Pro1507Ser Uncertain significance Single submitter
- DNMBP p.Pro204Ser Uncertain significance Single submitter
- DNMBP p.Pro321Leu Uncertain significance Single submitter
- DNMBP p.Pro321Thr Uncertain significance Single submitter
- DNMBP p.Pro384His Uncertain significance Single submitter
- DNMBP p.Pro385Leu Uncertain significance Single submitter
- DNMBP p.Pro570Ala Uncertain significance Single submitter
- DNMBP p.Pro612Leu Uncertain significance Single submitter
- DNMBP p.Pro613Arg Uncertain significance Single submitter
- DNMBP p.Pro613Leu Uncertain significance Single submitter
- DNMBP p.Pro646Ser Uncertain significance Single submitter
- DNMBP p.Pro660Ser Uncertain significance Single submitter
- DNMBP p.Pro690Ala Uncertain significance Single submitter
- DNMBP p.Pro813Leu Uncertain significance Single submitter
- DNMBP p.Ser1006Asn Uncertain significance Single submitter
- DNMBP p.Ser1039Tyr Uncertain significance Single submitter
- DNMBP p.Ser1396Pro Uncertain significance Single submitter
- DNMBP p.Ser324Pro Uncertain significance Single submitter
- DNMBP p.Ser440Ala Uncertain significance Single submitter
- DNMBP p.Ser650Leu Uncertain significance Single submitter
- DNMBP p.Ser769Pro Uncertain significance Single submitter
- DNMBP p.Thr1245Ile Uncertain significance Single submitter
- DNMBP p.Thr1253Ser Uncertain significance Single submitter
- DNMBP p.Thr341Ile Uncertain significance Single submitter
- DNMBP p.Thr365Ala Uncertain significance Single submitter
- DNMBP p.Thr60Ile Uncertain significance Single submitter
- DNMBP p.Thr756Met Uncertain significance Single submitter
- DNMBP p.Tyr1132Cys Uncertain significance Single submitter
- DNMBP p.Tyr1518Cys Uncertain significance Single submitter
- DNMBP p.Tyr430Cys Uncertain significance Single submitter
- DNMBP p.Val1304Ile Uncertain significance Single submitter
- DNMBP p.Val1338Met Uncertain significance Single submitter
- DNMBP p.Val1392Ile Uncertain significance Single submitter
- DNMBP p.Val1452Leu Uncertain significance Single submitter
- DNMBP p.Val1456Ala Uncertain significance Single submitter
- DNMBP p.Val1475Ile Uncertain significance Single submitter
- DNMBP p.Val1479Ile Uncertain significance Single submitter
- DNMBP p.Val1490Ile Uncertain significance Single submitter
- DNMBP p.Val334Leu Uncertain significance Single submitter
- DNMBP p.Val34Ala Uncertain significance Single submitter
- DNMBP p.Val489Ala Uncertain significance Single submitter
- DNMBP p.Val639Leu Uncertain significance Single submitter
- DNMBP p.Val948Leu Uncertain significance Single submitter
Predictors split 86
The independent predictors disagree with each other — read with care.
- DNMBP p.Ala1153Thr Uncertain significance Single submitter
- DNMBP p.Ala1278Pro Uncertain significance Single submitter
- DNMBP p.Arg1075Trp Uncertain significance Single submitter
- DNMBP p.Arg1101Trp Uncertain significance Single submitter
- DNMBP p.Arg113Trp Uncertain significance Single submitter
- DNMBP p.Arg122Cys Uncertain significance Single submitter
- DNMBP p.Arg1277Gln Uncertain significance Single submitter
- DNMBP p.Arg1277Trp Uncertain significance Single submitter
- DNMBP p.Arg1294Trp Uncertain significance Single submitter
- DNMBP p.Arg131Trp Uncertain significance Single submitter
- DNMBP p.Arg1350Cys Uncertain significance Single submitter
- DNMBP p.Arg1350His Uncertain significance Single submitter
- DNMBP p.Arg1467Trp Uncertain significance Single submitter
- DNMBP p.Arg151Trp Uncertain significance Single submitter
- DNMBP p.Arg1572Cys Uncertain significance Single submitter
- DNMBP p.Arg271Gln Uncertain significance Single submitter
- DNMBP p.Arg288Gly Uncertain significance Single submitter
- DNMBP p.Arg614Gly Uncertain significance Single submitter
- DNMBP p.Arg614His Uncertain significance Single submitter
- DNMBP p.Arg643Cys Uncertain significance Single submitter
- DNMBP p.Arg643His Uncertain significance Single submitter
- DNMBP p.Arg69Gly Uncertain significance Single submitter
- DNMBP p.Arg703Gln Likely benign Single submitter
- DNMBP p.Arg710Gly Uncertain significance Single submitter
- DNMBP p.Arg728Lys Uncertain significance Single submitter
- DNMBP p.Arg809Trp Uncertain significance Single submitter
- DNMBP p.Arg978Cys Uncertain significance Single submitter
- DNMBP p.Arg978His Uncertain significance Single submitter
- DNMBP p.Asn1133Asp Uncertain significance Single submitter
- DNMBP p.Asn1537Ser Uncertain significance Single submitter
- DNMBP p.Asn1560Lys Uncertain significance Single submitter
- DNMBP p.Asn963Lys Uncertain significance Single submitter
- DNMBP p.Asp849Asn Uncertain significance Single submitter
- DNMBP p.Asp981Asn Uncertain significance Single submitter
- DNMBP p.Cys738Arg Uncertain significance Single submitter
- DNMBP p.Cys806Gly Uncertain significance Single submitter
- DNMBP p.Gln1151His Uncertain significance Single submitter
- DNMBP p.Gln1272Pro Uncertain significance Single submitter
- DNMBP p.Gln890Glu Uncertain significance Single submitter
- DNMBP p.Glu1100Lys Uncertain significance Single submitter
- DNMBP p.Glu1544Lys Uncertain significance Single submitter
- DNMBP p.Glu162Lys Uncertain significance Single submitter
- DNMBP p.Glu20Asp Uncertain significance Single submitter
- DNMBP p.Glu232Lys Uncertain significance Single submitter
- DNMBP p.Glu241Lys Uncertain significance Single submitter
- DNMBP p.Glu378Lys Uncertain significance Single submitter
- DNMBP p.Glu730Gly Uncertain significance Single submitter
- DNMBP p.Gly1561Arg Uncertain significance Single submitter
-
DNMBP p.Gly411Asp
Uncertain significance
Single submitter
cataract 48
- DNMBP p.His134Pro Uncertain significance Single submitter
- DNMBP p.Ile28Thr Conflicting Single submitter
- DNMBP p.Ile877Thr Uncertain significance Single submitter
- DNMBP p.Ile964Val Uncertain significance Single submitter
- DNMBP p.Leu1201Val Uncertain significance Single submitter
- DNMBP p.Leu124Phe Uncertain significance Single submitter
- DNMBP p.Leu732Val Uncertain significance Single submitter
- DNMBP p.Leu87Ile Uncertain significance Single submitter
- DNMBP p.Leu975Phe Uncertain significance Single submitter
- DNMBP p.Lys1546Asn Uncertain significance Single submitter
- DNMBP p.Met986Thr Uncertain significance Single submitter
- DNMBP p.Phe1238Leu Uncertain significance Single submitter
- DNMBP p.Pro143Leu Uncertain significance Single submitter
- DNMBP p.Pro22Leu Uncertain significance Single submitter
- DNMBP p.Pro615Ala Uncertain significance Single submitter
- DNMBP p.Ser1045Cys Uncertain significance Single submitter
- DNMBP p.Ser1206Leu Uncertain significance Single submitter
- DNMBP p.Ser1273Leu Uncertain significance Single submitter
- DNMBP p.Ser1305Leu Uncertain significance Single submitter
- DNMBP p.Ser1353Cys Uncertain significance Single submitter
- DNMBP p.Ser135Phe Uncertain significance Single submitter
- DNMBP p.Ser1419Asn Uncertain significance Single submitter
- DNMBP p.Ser16Gly Uncertain significance Single submitter
- DNMBP p.Ser214Phe Uncertain significance Single submitter
- DNMBP p.Ser413Cys Uncertain significance Single submitter
- DNMBP p.Ser512Phe Uncertain significance Single submitter
- DNMBP p.Ser771Cys Uncertain significance Single submitter
- DNMBP p.Ser984Cys Uncertain significance Single submitter
- DNMBP p.Thr511Met Likely benign Single submitter
- DNMBP p.Thr553Pro Uncertain significance Single submitter
- DNMBP p.Thr731Ala Uncertain significance Single submitter
- DNMBP p.Thr865Lys Uncertain significance Single submitter
- DNMBP p.Val854Met Uncertain significance Single submitter
-
DNMBP p.Asn914Lys
Benign
No assertion criteria
DNMBP-related disorder
-
DNMBP p.Glu265Lys
Likely benign
No assertion criteria
DNMBP-related disorder
-
DNMBP p.Met831Thr
Benign
No assertion criteria
DNMBP-related disorder
-
DNMBP p.Pro820Leu
Benign
No assertion criteria
DNMBP-related disorder
All DNMBP variants
Pathogenic 4
- c.2260+1G>A Single submitter hydrocephalus, nonsyndromic, autosomal recessive 1
- p.Arg271Ter Single submitter cataract 48
- p.Glu982_Asp983insTer No assertion criteria cataract 48
- p.Thr951fs No assertion criteria cataract 48
Likely pathogenic 1
- p.Gly481fs Single submitter cataract 48
Conflicting classifications of pathogenicity 1
- p.Ile28Thr Single submitter ⚠
Benign 32
- c.3156+7A>G Multiple submitters cataract 48
- p.Asn373Lys Multiple submitters
- p.Asn961= Multiple submitters cataract 48
- p.Cys1413Trp Multiple submitters cataract 48
- p.Pro1248= Multiple submitters cataract 48
- p.Pro444= Multiple submitters cataract 48
- p.Ser1440= Multiple submitters cataract 48
- c.2554+8C>T Single submitter
- c.2261-20475C>G No assertion criteria DNMBP-related disorder
- c.2261-20486G>A No assertion criteria DNMBP-related disorder
- c.2261-20487C>T No assertion criteria DNMBP-related disorder
- c.2261-20815A>G No assertion criteria DNMBP-related disorder
- c.2261-21193G>A No assertion criteria DNMBP-related disorder
- c.2261-21218G>A No assertion criteria DNMBP-related disorder
- c.2261-21476T>C No assertion criteria DNMBP-related disorder
- c.2261-21512C>T No assertion criteria DNMBP-related disorder
- c.*10G>C No assertion criteria DNMBP-related disorder
- p.Arg1101Gln No assertion criteria DNMBP-related disorder
- p.Asn914Lys No assertion criteria DNMBP-related disorder ⚠
- p.Asp543= No assertion criteria DNMBP-related disorder
- p.Glu1575= No assertion criteria DNMBP-related disorder
- p.Glu81Asp No assertion criteria DNMBP-related disorder
- p.Glu861= No assertion criteria DNMBP-related disorder
- p.Lys661Arg No assertion criteria DNMBP-related disorder
- p.Met831Thr No assertion criteria DNMBP-related disorder ⚠
- p.Pro1106= No assertion criteria DNMBP-related disorder
- p.Pro1500= No assertion criteria DNMBP-related disorder
- p.Pro820Leu No assertion criteria DNMBP-related disorder ⚠
- p.Ser1478= No assertion criteria DNMBP-related disorder
- p.Ser838= No assertion criteria DNMBP-related disorder
- p.Thr1236= No assertion criteria DNMBP-related disorder
- p.Val249= No assertion criteria DNMBP-related disorder
Likely benign 32
- c.2261-21093G>A Single submitter
- p.Ala274= Single submitter
- p.Arg667His Single submitter
- p.Arg703Gln Single submitter ⚠
- p.Asn423Ser Single submitter
- p.Glu345Lys Single submitter
- p.His539Leu Single submitter
- p.Ile235Arg Single submitter
- p.Ile517Val Single submitter
- p.Leu476Pro Single submitter
- p.Met681Val Single submitter
- p.Pro1463Leu Single submitter
- p.Pro385Arg Single submitter
- p.Pro438Leu Single submitter
- p.Pro527Leu Single submitter
- p.Pro618= Single submitter
- p.Thr1382Ile Single submitter
- p.Thr511Met Single submitter ⚠
- p.Thr538Ala Single submitter
- p.Thr655Met Single submitter
- c.2261-4829A>G No assertion criteria DNMBP-related disorder
- c.2261-4933dup No assertion criteria DNMBP-related disorder
- c.*6C>T No assertion criteria DNMBP-related disorder
- p.Asn1483Ser No assertion criteria DNMBP-related disorder
- p.Asp547= No assertion criteria DNMBP-related disorder
- p.Glu265Lys No assertion criteria DNMBP-related disorder ⚠
- p.His1367= No assertion criteria DNMBP-related disorder
- p.Lys1009= No assertion criteria DNMBP-related disorder
- p.Lys586= No assertion criteria DNMBP-related disorder
- p.Pro385= No assertion criteria DNMBP-related disorder
- p.Ser593Leu No assertion criteria DNMBP-related disorder
- p.Val6= No assertion criteria DNMBP-related disorder
Uncertain significance 227
- c.2261-21460G>A Single submitter DNMBP-related disorder
- p.Ala112Thr Single submitter ⚠
- p.Ala1153Thr Single submitter ⚠
- p.Ala1278Pro Single submitter ⚠
- p.Ala1453Val Single submitter ⚠
- p.Ala1497Val Single submitter ⚠
- p.Ala152Val Single submitter ⚠
- p.Arg1003Gln Single submitter ⚠
- p.Arg1075Gln Single submitter ⚠
- p.Arg1075Trp Single submitter ⚠
- p.Arg1101Trp Single submitter ⚠
- p.Arg1124Cys Single submitter ⚠
- p.Arg113Gln Single submitter ⚠
- p.Arg113Trp Single submitter ⚠
- p.Arg1154Gln Single submitter ⚠
- p.Arg122Cys Single submitter ⚠
- p.Arg1277Gln Single submitter ⚠
- p.Arg1277Trp Single submitter ⚠
- p.Arg1294Gln Single submitter ⚠
- p.Arg1294Trp Single submitter ⚠
- p.Arg131Trp Single submitter ⚠
- p.Arg1326Cys Single submitter ⚠
- p.Arg1326His Single submitter ⚠
- p.Arg1349Gly Single submitter ⚠
- p.Arg1349His Single submitter ⚠
- p.Arg1350Cys Single submitter ⚠
- p.Arg1350His Single submitter ⚠
- p.Arg1376His Single submitter ⚠
- p.Arg1445Lys Single submitter ⚠
- p.Arg1467Trp Single submitter ⚠
- p.Arg1482Gln Single submitter ⚠
- p.Arg1503Gly Single submitter ⚠
- p.Arg151Trp Single submitter ⚠
- p.Arg1572Cys Single submitter ⚠
- p.Arg271Gln Single submitter ⚠
- p.Arg288Gly Single submitter ⚠
- p.Arg288Lys Single submitter ⚠
- p.Arg295Trp Single submitter ⚠
- p.Arg493Ser Single submitter ⚠
- p.Arg575His Single submitter ⚠
- p.Arg590Gln Single submitter ⚠
- p.Arg614Gly Single submitter ⚠
- p.Arg614His Single submitter ⚠
- p.Arg643Cys Single submitter ⚠
- p.Arg643His Single submitter ⚠
- p.Arg69Gly Single submitter ⚠
- p.Arg710Gly Single submitter ⚠
- p.Arg728Lys Single submitter ⚠
- p.Arg809Trp Single submitter ⚠
- p.Arg978Cys Single submitter ⚠
- p.Arg978His Single submitter ⚠
- p.Asn1002Ser Single submitter ⚠
- p.Asn1133Asp Single submitter ⚠
- p.Asn1181Lys Single submitter ⚠
- p.Asn1297Ser Single submitter ⚠
- p.Asn1347Ser Single submitter ⚠
- p.Asn1530Asp Single submitter ⚠
- p.Asn1537Ser Single submitter ⚠
- p.Asn1560Lys Single submitter ⚠
- p.Asn741Ser Single submitter ⚠
- p.Asn963Lys Single submitter ⚠
- p.Asp1130Ala Single submitter ⚠
- p.Asp1143Val Single submitter ⚠
- p.Asp1354Asn Single submitter ⚠
- p.Asp1451Asn Single submitter ⚠
- p.Asp278Val Single submitter ⚠
- p.Asp371Glu Single submitter ⚠
- p.Asp399Gly Single submitter ⚠
- p.Asp628Val Single submitter ⚠
- p.Asp849Asn Single submitter ⚠
- p.Asp899Asn Single submitter ⚠
- p.Asp981Asn Single submitter ⚠
- p.Asp981Val Single submitter ⚠
- p.Cys1182Ser Single submitter ⚠
- p.Cys1434Tyr Single submitter ⚠
- p.Cys670Ser Single submitter ⚠
- p.Cys738Arg Single submitter ⚠
- p.Cys75Arg Single submitter ⚠
- p.Cys806Gly Single submitter ⚠
- p.Cys909Tyr Single submitter ⚠
- p.Gln1151His Single submitter ⚠
- p.Gln1272Arg Single submitter ⚠
- p.Gln1272Pro Single submitter ⚠
- p.Gln1272Ter Single submitter
- p.Gln1402Arg Single submitter ⚠
- p.Gln1402His Single submitter ⚠
- p.Gln428Arg Single submitter ⚠
- p.Gln890Glu Single submitter ⚠
- p.Glu1071Gly Single submitter ⚠
- p.Glu1100Lys Single submitter ⚠
- p.Glu1158Lys Single submitter ⚠
- p.Glu1214Gly Single submitter ⚠
- p.Glu1240Lys Single submitter ⚠
- p.Glu1366Lys Single submitter ⚠
- p.Glu1513Gly Single submitter ⚠
- p.Glu1544Lys Single submitter ⚠
- p.Glu162Lys Single submitter ⚠
- p.Glu188Ala Single submitter ⚠
- p.Glu20Asp Single submitter ⚠
- p.Glu232Lys Single submitter ⚠
- p.Glu241Lys Single submitter ⚠
- p.Glu314Ala Single submitter ⚠
- p.Glu378Lys Single submitter ⚠
- p.Glu407Gly Single submitter ⚠
- p.Glu450Gln Single submitter ⚠
- p.Glu730Gly Single submitter ⚠
- p.Glu739Lys Single submitter ⚠
- p.Glu748Gly Single submitter ⚠
- p.Glu81Gly Single submitter ⚠
- p.Glu825Asp Single submitter ⚠
- p.Glu881Asp Single submitter ⚠
- p.Glu906Lys Single submitter ⚠
- p.Gly1336Ala Single submitter ⚠
- p.Gly1380Asp Single submitter ⚠
- p.Gly1514Asp Single submitter ⚠
- p.Gly1561Arg Single submitter ⚠
- p.Gly411Asp Single submitter cataract 48 ⚠
- p.Gly435Arg Single submitter ⚠
- p.Gly565Arg Single submitter ⚠
- p.Gly677Ser Single submitter ⚠
- p.Gly679Asp Single submitter ⚠
- p.Gly67Glu Single submitter ⚠
- p.Gly908Val Single submitter ⚠
- p.Gly97Asp Single submitter ⚠
- p.His134Pro Single submitter ⚠
- p.His1367Pro Single submitter ⚠
- p.His339Arg Single submitter ⚠
- p.His437Arg Single submitter ⚠
- p.His500Tyr Single submitter ⚠
- p.His873Tyr Single submitter ⚠
- p.Ile10Val Single submitter ⚠
- p.Ile1104Met Single submitter ⚠
- p.Ile573Val Single submitter ⚠
- p.Ile61Val Single submitter ⚠
- p.Ile877Thr Single submitter ⚠
- p.Ile964Val Single submitter ⚠
- p.Ile989Thr Single submitter ⚠
- p.Leu1201Val Single submitter ⚠
- p.Leu124Phe Single submitter ⚠
- p.Leu124Pro Single submitter ⚠
- p.Leu1289Val Single submitter ⚠
- p.Leu532Arg Single submitter ⚠
- p.Leu625Ser Single submitter ⚠
- p.Leu732Val Single submitter ⚠
- p.Leu87Ile Single submitter ⚠
- p.Leu973Gln Single submitter ⚠
- p.Leu975Arg Single submitter ⚠
- p.Leu975Phe Single submitter ⚠
- p.Lys1546Asn Single submitter ⚠
- p.Lys606Arg Single submitter ⚠
- p.Met1065Thr Single submitter ⚠
- p.Met1065Val Single submitter ⚠
- p.Met1070Thr Single submitter ⚠
- p.Met1321Val Single submitter ⚠
- p.Met147Val Single submitter ⚠
- p.Met523Thr Single submitter ⚠
- p.Met831Ile Single submitter ⚠
- p.Met833Val Single submitter ⚠
- p.Met927Ile Single submitter ⚠
- p.Met986Thr Single submitter ⚠
- p.Met986Val Single submitter ⚠
- p.Phe1023Val Single submitter ⚠
- p.Phe1238Leu Single submitter ⚠
- p.Pro1409Leu Single submitter ⚠
- p.Pro143Leu Single submitter ⚠
- p.Pro1507Ser Single submitter ⚠
- p.Pro204Ser Single submitter ⚠
- p.Pro22Leu Single submitter ⚠
- p.Pro321Leu Single submitter ⚠
- p.Pro321Thr Single submitter ⚠
- p.Pro384His Single submitter ⚠
- p.Pro385Leu Single submitter ⚠
- p.Pro570Ala Single submitter ⚠
- p.Pro612Leu Single submitter ⚠
- p.Pro613Arg Single submitter ⚠
- p.Pro613Leu Single submitter ⚠
- p.Pro615Ala Single submitter ⚠
- p.Pro646Ser Single submitter ⚠
- p.Pro660Ser Single submitter ⚠
- p.Pro690Ala Single submitter ⚠
- p.Pro813Leu Single submitter ⚠
- p.Ser1006Asn Single submitter ⚠
- p.Ser1039Tyr Single submitter ⚠
- p.Ser1045Cys Single submitter ⚠
- p.Ser1206Leu Single submitter ⚠
- p.Ser1273Leu Single submitter ⚠
- p.Ser1305Leu Single submitter ⚠
- p.Ser1353Cys Single submitter ⚠
- p.Ser135Phe Single submitter ⚠
- p.Ser1396Pro Single submitter ⚠
- p.Ser1419Asn Single submitter ⚠
- p.Ser16Gly Single submitter ⚠
- p.Ser214Phe Single submitter ⚠
- p.Ser324Pro Single submitter ⚠
- p.Ser413Cys Single submitter ⚠
- p.Ser440Ala Single submitter ⚠
- p.Ser512Phe Single submitter ⚠
- p.Ser650Leu Single submitter ⚠
- p.Ser769Pro Single submitter ⚠
- p.Ser771Cys Single submitter ⚠
- p.Ser984Cys Single submitter ⚠
- p.Thr1245Ile Single submitter ⚠
- p.Thr1253Ser Single submitter ⚠
- p.Thr341Ile Single submitter ⚠
- p.Thr365Ala Single submitter ⚠
- p.Thr553Pro Single submitter ⚠
- p.Thr60Ile Single submitter ⚠
- p.Thr731Ala Single submitter ⚠
- p.Thr756Met Single submitter ⚠
- p.Thr865Lys Single submitter ⚠
- p.Tyr1132Cys Single submitter ⚠
- p.Tyr1518Cys Single submitter ⚠
- p.Tyr430Cys Single submitter ⚠
- p.Val1304Ile Single submitter ⚠
- p.Val1338Met Single submitter ⚠
- p.Val1392Ile Single submitter ⚠
- p.Val1452Leu Single submitter ⚠
- p.Val1456Ala Single submitter ⚠
- p.Val1475Ile Single submitter ⚠
- p.Val1479Ile Single submitter ⚠
- p.Val1490Ile Single submitter ⚠
- p.Val334Leu Single submitter ⚠
- p.Val34Ala Single submitter ⚠
- p.Val489Ala Single submitter ⚠
- p.Val639Leu Single submitter ⚠
- p.Val854Met Single submitter ⚠
- p.Val948Leu Single submitter ⚠