CILP — 233 ClinVar variants
All ClinVar germline CILP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 214 flagged for review →
6 Benign · 14 Likely benign · 213 Uncertain significance
Full CILP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 214
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 113
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CILP p.Ala102Val Uncertain significance Single submitter
- CILP p.Ala1053Thr Uncertain significance Single submitter
- CILP p.Ala1091Val Uncertain significance Single submitter
- CILP p.Ala1143Thr Uncertain significance Single submitter
- CILP p.Ala1158Gly Uncertain significance Single submitter
- CILP p.Ala563Asp Uncertain significance Single submitter
- CILP p.Ala6Ser Uncertain significance Single submitter
- CILP p.Ala76Thr Uncertain significance Single submitter
- CILP p.Arg1019Gly Uncertain significance Single submitter
- CILP p.Arg1019His Uncertain significance Single submitter
- CILP p.Arg1035Gln Uncertain significance Single submitter
- CILP p.Arg1094Trp Uncertain significance Single submitter
- CILP p.Arg1105Thr Uncertain significance Single submitter
- CILP p.Arg1154Ser Uncertain significance Single submitter
- CILP p.Arg125Gln Uncertain significance Single submitter
- CILP p.Arg136Cys Uncertain significance Single submitter
- CILP p.Arg146Gln Uncertain significance Single submitter
- CILP p.Arg31Lys Uncertain significance Single submitter
- CILP p.Arg32Gly Uncertain significance Single submitter
- CILP p.Arg412Gln Uncertain significance Single submitter
- CILP p.Arg431Leu Uncertain significance Single submitter
- CILP p.Arg448Cys Uncertain significance Single submitter
- CILP p.Arg484Gln Uncertain significance Single submitter
- CILP p.Arg506Cys Uncertain significance Single submitter
- CILP p.Arg544Ser Uncertain significance Single submitter
- CILP p.Arg573Gln Uncertain significance Single submitter
- CILP p.Arg655Gln Uncertain significance Single submitter
- CILP p.Arg724Thr Uncertain significance Single submitter
- CILP p.Arg73Trp Uncertain significance Single submitter
- CILP p.Arg95Gln Uncertain significance Single submitter
- CILP p.Arg994Gln Uncertain significance Single submitter
- CILP p.Asn612Asp Uncertain significance Single submitter
- CILP p.Asn779Asp Uncertain significance Single submitter
- CILP p.Asn804Ser Uncertain significance Single submitter
- CILP p.Asp1057Asn Uncertain significance Single submitter
- CILP p.Asp147Asn Uncertain significance Single submitter
- CILP p.Asp215Glu Uncertain significance Single submitter
- CILP p.Asp339Asn Uncertain significance Single submitter
- CILP p.Asp381His Uncertain significance Single submitter
- CILP p.Asp48Asn Uncertain significance Single submitter
- CILP p.Asp83Asn Uncertain significance Single submitter
- CILP p.Asp920Gly Uncertain significance Single submitter
- CILP p.Cys1005Ser Uncertain significance Single submitter
- CILP p.Cys1095Trp Uncertain significance Single submitter
- CILP p.Cys200Tyr Uncertain significance Single submitter
- CILP p.Cys268Arg Uncertain significance Single submitter
- CILP p.Cys268Phe Uncertain significance Single submitter
- CILP p.Cys454Tyr Uncertain significance Single submitter
- CILP p.Gln1123Glu Uncertain significance Single submitter
- CILP p.Gln1155Glu Uncertain significance Single submitter
- CILP p.Gln222His Uncertain significance Single submitter
- CILP p.Gln255Arg Uncertain significance Single submitter
- CILP p.Gln379Arg Uncertain significance Single submitter
- CILP p.Gln391Arg Uncertain significance Single submitter
- CILP p.Gln834His Uncertain significance Single submitter
- CILP p.Glu399Lys Uncertain significance Single submitter
- CILP p.Glu648Lys Uncertain significance Single submitter
- CILP p.Glu865Lys Uncertain significance Single submitter
- CILP p.Glu93Gly Uncertain significance Single submitter
- CILP p.Gly1012Glu Uncertain significance Single submitter
- CILP p.Gly1075Asp Uncertain significance Single submitter
- CILP p.Gly210Val Uncertain significance Single submitter
- CILP p.Gly21Ala Uncertain significance Single submitter
- CILP p.Gly524Asp Uncertain significance Single submitter
- CILP p.Gly706Arg Uncertain significance Single submitter
- CILP p.Gly732Arg Uncertain significance Single submitter
- CILP p.His110Arg Uncertain significance Single submitter
- CILP p.His369Gln Uncertain significance Single submitter
- CILP p.His415Gln Uncertain significance Single submitter
- CILP p.His415Leu Uncertain significance Single submitter
- CILP p.His509Asn Uncertain significance Single submitter
- CILP p.Ile1090Met Uncertain significance Single submitter
- CILP p.Ile264Leu Uncertain significance Single submitter
- CILP p.Ile445Thr Uncertain significance Single submitter
- CILP p.Ile465Val Uncertain significance Single submitter
- CILP p.Ile917Thr Uncertain significance Single submitter
- CILP p.Leu361Val Uncertain significance Single submitter
- CILP p.Leu539Pro Uncertain significance Single submitter
- CILP p.Leu627Val Uncertain significance Single submitter
- CILP p.Leu899Phe Uncertain significance Single submitter
- CILP p.Lys248Arg Uncertain significance Single submitter
- CILP p.Lys300Arg Uncertain significance Single submitter
- CILP p.Met220Ile Uncertain significance Single submitter
- CILP p.Met313Thr Uncertain significance Single submitter
- CILP p.Met878Val Uncertain significance Single submitter
- CILP p.Met935Arg Uncertain significance Single submitter
- CILP p.Met973Ile Uncertain significance Single submitter
- CILP p.Phe626Leu Uncertain significance Single submitter
- CILP p.Pro1069Leu Uncertain significance Single submitter
- CILP p.Pro1141Leu Uncertain significance Single submitter
- CILP p.Pro1151Thr Uncertain significance Single submitter
- CILP p.Pro265Thr Uncertain significance Single submitter
- CILP p.Pro404Arg Uncertain significance Single submitter
- CILP p.Pro53Leu Uncertain significance Single submitter
- CILP p.Ser1032Thr Uncertain significance Single submitter
- CILP p.Ser258Gly Uncertain significance Single submitter
- CILP p.Ser293Thr Uncertain significance Single submitter
- CILP p.Ser684Leu Uncertain significance Single submitter
- CILP p.Ser936Asn Uncertain significance Single submitter
- CILP p.Thr436Asn Uncertain significance Single submitter
- CILP p.Thr525Ala Uncertain significance Single submitter
- CILP p.Thr634Arg Uncertain significance Single submitter
- CILP p.Thr651Ala Uncertain significance Single submitter
- CILP p.Thr728Asn Uncertain significance Single submitter
- CILP p.Thr862Met Uncertain significance Single submitter
- CILP p.Trp155Cys Uncertain significance Single submitter
- CILP p.Trp699Gly Uncertain significance Single submitter
- CILP p.Val182Ala Uncertain significance Single submitter
- CILP p.Val312Leu Uncertain significance Single submitter
- CILP p.Val668Leu Uncertain significance Single submitter
- CILP p.Val824Ile Uncertain significance Single submitter
- CILP p.Val981Met Uncertain significance Single submitter
- CILP p.Lys38Glu Uncertain significance No assertion criteria
Predictors split 101
The independent predictors disagree with each other — read with care.
- CILP p.Ala1003Asp Uncertain significance Single submitter
- CILP p.Ala1091Thr Uncertain significance Single submitter
- CILP p.Ala1114Gly Uncertain significance Single submitter
- CILP p.Ala241Ser Uncertain significance Single submitter
- CILP p.Arg1019Cys Uncertain significance Single submitter
- CILP p.Arg1034Cys Uncertain significance Single submitter
- CILP p.Arg1085His Uncertain significance Single submitter
- CILP p.Arg1126Cys Uncertain significance Single submitter
- CILP p.Arg114Cys Uncertain significance Single submitter
- CILP p.Arg1154Lys Uncertain significance Single submitter
- CILP p.Arg1164Cys Uncertain significance Single submitter
- CILP p.Arg136His Uncertain significance Single submitter
- CILP p.Arg145His Uncertain significance Single submitter
- CILP p.Arg173His Uncertain significance Single submitter
- CILP p.Arg320Gln Uncertain significance Single submitter
- CILP p.Arg320Trp Uncertain significance Single submitter
- CILP p.Arg412Trp Uncertain significance Single submitter
- CILP p.Arg484Trp Uncertain significance Single submitter
- CILP p.Arg493Gln Uncertain significance Single submitter
- CILP p.Arg493Trp Uncertain significance Single submitter
- CILP p.Arg516Cys Uncertain significance Single submitter
- CILP p.Arg516His Uncertain significance Single submitter
- CILP p.Arg573Trp Uncertain significance Single submitter
- CILP p.Arg630Gln Uncertain significance Single submitter
- CILP p.Arg655Trp Uncertain significance Single submitter
- CILP p.Arg721Lys Uncertain significance Single submitter
- CILP p.Arg751Trp Uncertain significance Single submitter
- CILP p.Arg78Cys Uncertain significance Single submitter
- CILP p.Arg84His Uncertain significance Single submitter
- CILP p.Arg88His Uncertain significance Single submitter
- CILP p.Arg900Leu Uncertain significance Single submitter
- CILP p.Arg900Trp Uncertain significance Single submitter
- CILP p.Arg91Trp Likely benign Single submitter
- CILP p.Arg988Gln Uncertain significance Single submitter
- CILP p.Arg994Trp Uncertain significance Single submitter
- CILP p.Asn346Asp Uncertain significance Single submitter
- CILP p.Asn550Lys Uncertain significance Single submitter
- CILP p.Asn646Ser Uncertain significance Single submitter
- CILP p.Asn843Lys Uncertain significance Single submitter
- CILP p.Asp257Glu Uncertain significance Single submitter
- CILP p.Asp428Glu Uncertain significance Single submitter
- CILP p.Asp70Asn Uncertain significance Single submitter
- CILP p.Asp70Glu Uncertain significance Single submitter
- CILP p.Cys329Tyr Uncertain significance Single submitter
- CILP p.Cys447Phe Uncertain significance Single submitter
- CILP p.Gln370Glu Uncertain significance Single submitter
- CILP p.Gln391Leu Uncertain significance Single submitter
- CILP p.Glu115Ala Uncertain significance Single submitter
- CILP p.Glu373Ala Uncertain significance Single submitter
- CILP p.Glu464Lys Uncertain significance Single submitter
- CILP p.Glu567Ala Uncertain significance Single submitter
- CILP p.Glu600Asp Uncertain significance Single submitter
- CILP p.Glu781Asp Uncertain significance Single submitter
- CILP p.Glu93Val Uncertain significance Single submitter
- CILP p.Gly106Asp Uncertain significance Single submitter
- CILP p.Gly169Arg Uncertain significance Single submitter
- CILP p.Gly197Asp Uncertain significance Single submitter
- CILP p.Gly3Glu Uncertain significance Single submitter
- CILP p.Gly67Arg Uncertain significance Single submitter
- CILP p.His345Arg Uncertain significance Single submitter
- CILP p.Ile465Met Uncertain significance Single submitter
- CILP p.Ile960Thr Uncertain significance Single submitter
- CILP p.Leu226Ile Uncertain significance Single submitter
- CILP p.Leu232Phe Uncertain significance Single submitter
- CILP p.Leu287His Uncertain significance Single submitter
- CILP p.Leu287Phe Uncertain significance Single submitter
- CILP p.Leu589Met Uncertain significance Single submitter
- CILP p.Leu642Val Uncertain significance Single submitter
- CILP p.Met1013Arg Uncertain significance Single submitter
- CILP p.Met311Val Uncertain significance Single submitter
- CILP p.Met570Thr Uncertain significance Single submitter
- CILP p.Phe282Leu Uncertain significance Single submitter
- CILP p.Phe565Leu Uncertain significance Single submitter
- CILP p.Phe652Ser Uncertain significance Single submitter
- CILP p.Phe716Cys Uncertain significance Single submitter
- CILP p.Pro101Arg Uncertain significance Single submitter
- CILP p.Pro250Leu Uncertain significance Single submitter
- CILP p.Pro269Ser Uncertain significance Single submitter
- CILP p.Pro597Ser Uncertain significance Single submitter
- CILP p.Pro883Leu Uncertain significance Single submitter
- CILP p.Ser143Phe Uncertain significance Single submitter
- CILP p.Ser183Thr Uncertain significance Single submitter
- CILP p.Ser359Arg Uncertain significance Single submitter
- CILP p.Ser380Gly Uncertain significance Single submitter
- CILP p.Thr206Pro Uncertain significance Single submitter
- CILP p.Thr292Ala Uncertain significance Single submitter
- CILP p.Thr348Ile Uncertain significance Single submitter
- CILP p.Thr471Arg Uncertain significance Single submitter
- CILP p.Thr669Ile Uncertain significance Single submitter
- CILP p.Thr669Pro Uncertain significance Single submitter
- CILP p.Thr728Ile Uncertain significance Single submitter
- CILP p.Tyr344Cys Uncertain significance Single submitter
- CILP p.Val1113Ala Uncertain significance Single submitter
- CILP p.Val135Ile Uncertain significance Single submitter
- CILP p.Val135Leu Uncertain significance Single submitter
- CILP p.Val326Met Uncertain significance Single submitter
- CILP p.Val538Met Uncertain significance Single submitter
- CILP p.Val564Gly Uncertain significance Single submitter
- CILP p.Val836Glu Uncertain significance Single submitter
- CILP p.Val961Met Uncertain significance Single submitter
-
CILP p.Arg431Cys
Benign
No assertion criteria
CILP-related disorder
All CILP variants
Benign 6
- p.Leu1064= Multiple submitters
- p.Arg431Cys No assertion criteria CILP-related disorder ⚠
- p.Arg448His No assertion criteria CILP-related disorder
- p.Gln979Arg No assertion criteria CILP-related disorder
- p.Gly1166Ser No assertion criteria CILP-related disorder
- p.Thr486Met No assertion criteria CILP-related disorder
Likely benign 14
- p.Arg1034His Single submitter
- p.Arg150His Single submitter
- p.Arg91Trp Single submitter ⚠
- p.Gly66= Single submitter
- p.Ile775Val Single submitter
- p.Met598Val Single submitter
- p.Ser189= Single submitter
- p.Thr49Ile Single submitter
- p.Thr640Ser Single submitter
- p.Val1120Ala Single submitter
- p.Asp647= No assertion criteria CILP-related disorder
- p.Gly69= No assertion criteria CILP-related disorder
- p.Thr1078= No assertion criteria CILP-related disorder
- p.Thr486= No assertion criteria CILP-related disorder
Uncertain significance 213
- p.Ala1003Asp Single submitter ⚠
- p.Ala102Val Single submitter ⚠
- p.Ala1053Thr Single submitter ⚠
- p.Ala1091Thr Single submitter ⚠
- p.Ala1091Val Single submitter ⚠
- p.Ala1114Gly Single submitter ⚠
- p.Ala1143Thr Single submitter ⚠
- p.Ala1158Gly Single submitter ⚠
- p.Ala241Ser Single submitter ⚠
- p.Ala563Asp Single submitter ⚠
- p.Ala6Ser Single submitter ⚠
- p.Ala76Thr Single submitter ⚠
- p.Arg1019Cys Single submitter ⚠
- p.Arg1019Gly Single submitter ⚠
- p.Arg1019His Single submitter ⚠
- p.Arg1034Cys Single submitter ⚠
- p.Arg1035Gln Single submitter ⚠
- p.Arg1085His Single submitter ⚠
- p.Arg1094Trp Single submitter ⚠
- p.Arg1105Thr Single submitter ⚠
- p.Arg1126Cys Single submitter ⚠
- p.Arg114Cys Single submitter ⚠
- p.Arg1154Lys Single submitter ⚠
- p.Arg1154Ser Single submitter ⚠
- p.Arg1164Cys Single submitter ⚠
- p.Arg125Gln Single submitter ⚠
- p.Arg136Cys Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg145His Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg173His Single submitter ⚠
- p.Arg263Ter Single submitter
- p.Arg31Lys Single submitter ⚠
- p.Arg320Gln Single submitter ⚠
- p.Arg320Trp Single submitter ⚠
- p.Arg32Gly Single submitter ⚠
- p.Arg412Gln Single submitter ⚠
- p.Arg412Trp Single submitter ⚠
- p.Arg431Leu Single submitter ⚠
- p.Arg448Cys Single submitter ⚠
- p.Arg484Gln Single submitter ⚠
- p.Arg484Trp Single submitter ⚠
- p.Arg493Gln Single submitter ⚠
- p.Arg493Trp Single submitter ⚠
- p.Arg506Cys Single submitter ⚠
- p.Arg516Cys Single submitter ⚠
- p.Arg516His Single submitter ⚠
- p.Arg544Ser Single submitter ⚠
- p.Arg573Gln Single submitter ⚠
- p.Arg573Trp Single submitter ⚠
- p.Arg630Gln Single submitter ⚠
- p.Arg655Gln Single submitter ⚠
- p.Arg655Trp Single submitter ⚠
- p.Arg721Lys Single submitter ⚠
- p.Arg724Thr Single submitter ⚠
- p.Arg73Trp Single submitter ⚠
- p.Arg751Trp Single submitter ⚠
- p.Arg78Cys Single submitter ⚠
- p.Arg84His Single submitter ⚠
- p.Arg88His Single submitter ⚠
- p.Arg900Leu Single submitter ⚠
- p.Arg900Trp Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Arg988Gln Single submitter ⚠
- p.Arg994Gln Single submitter ⚠
- p.Arg994Trp Single submitter ⚠
- p.Asn346Asp Single submitter ⚠
- p.Asn550Lys Single submitter ⚠
- p.Asn612Asp Single submitter ⚠
- p.Asn646Ser Single submitter ⚠
- p.Asn779Asp Single submitter ⚠
- p.Asn804Ser Single submitter ⚠
- p.Asn843Lys Single submitter ⚠
- p.Asp1057Asn Single submitter ⚠
- p.Asp147Asn Single submitter ⚠
- p.Asp215Glu Single submitter ⚠
- p.Asp257Glu Single submitter ⚠
- p.Asp339Asn Single submitter ⚠
- p.Asp381His Single submitter ⚠
- p.Asp428Glu Single submitter ⚠
- p.Asp48Asn Single submitter ⚠
- p.Asp70Asn Single submitter ⚠
- p.Asp70Glu Single submitter ⚠
- p.Asp83Asn Single submitter ⚠
- p.Asp920Gly Single submitter ⚠
- p.Cys1005Ser Single submitter ⚠
- p.Cys1095Trp Single submitter ⚠
- p.Cys200Tyr Single submitter ⚠
- p.Cys268Arg Single submitter ⚠
- p.Cys268Phe Single submitter ⚠
- p.Cys329Tyr Single submitter ⚠
- p.Cys447Phe Single submitter ⚠
- p.Cys454Tyr Single submitter ⚠
- p.Gln1123Glu Single submitter ⚠
- p.Gln1155Glu Single submitter ⚠
- p.Gln222His Single submitter ⚠
- p.Gln255Arg Single submitter ⚠
- p.Gln370Glu Single submitter ⚠
- p.Gln379Arg Single submitter ⚠
- p.Gln391Arg Single submitter ⚠
- p.Gln391Leu Single submitter ⚠
- p.Gln834His Single submitter ⚠
- p.Glu115Ala Single submitter ⚠
- p.Glu373Ala Single submitter ⚠
- p.Glu399Lys Single submitter ⚠
- p.Glu464Lys Single submitter ⚠
- p.Glu567Ala Single submitter ⚠
- p.Glu600Asp Single submitter ⚠
- p.Glu648Lys Single submitter ⚠
- p.Glu781Asp Single submitter ⚠
- p.Glu865Lys Single submitter ⚠
- p.Glu93Gly Single submitter ⚠
- p.Glu93Val Single submitter ⚠
- p.Gly1012Glu Single submitter ⚠
- p.Gly106Asp Single submitter ⚠
- p.Gly1075Asp Single submitter ⚠
- p.Gly169Arg Single submitter ⚠
- p.Gly197Asp Single submitter ⚠
- p.Gly210Val Single submitter ⚠
- p.Gly21Ala Single submitter ⚠
- p.Gly3Glu Single submitter ⚠
- p.Gly524Asp Single submitter ⚠
- p.Gly67Arg Single submitter ⚠
- p.Gly706Arg Single submitter ⚠
- p.Gly732Arg Single submitter ⚠
- p.His110Arg Single submitter ⚠
- p.His345Arg Single submitter ⚠
- p.His369Gln Single submitter ⚠
- p.His415Gln Single submitter ⚠
- p.His415Leu Single submitter ⚠
- p.His509Asn Single submitter ⚠
- p.Ile1090Met Single submitter ⚠
- p.Ile264Leu Single submitter ⚠
- p.Ile445Thr Single submitter ⚠
- p.Ile465Met Single submitter ⚠
- p.Ile465Val Single submitter ⚠
- p.Ile917Thr Single submitter ⚠
- p.Ile960Thr Single submitter ⚠
- p.Leu226Ile Single submitter ⚠
- p.Leu232Phe Single submitter ⚠
- p.Leu287His Single submitter ⚠
- p.Leu287Phe Single submitter ⚠
- p.Leu361Val Single submitter ⚠
- p.Leu539Pro Single submitter ⚠
- p.Leu589Met Single submitter ⚠
- p.Leu627Val Single submitter ⚠
- p.Leu642Val Single submitter ⚠
- p.Leu899Phe Single submitter ⚠
- p.Lys248Arg Single submitter ⚠
- p.Lys300Arg Single submitter ⚠
- p.Met1013Arg Single submitter ⚠
- p.Met220Ile Single submitter ⚠
- p.Met311Val Single submitter ⚠
- p.Met313Thr Single submitter ⚠
- p.Met570Thr Single submitter ⚠
- p.Met878Val Single submitter ⚠
- p.Met935Arg Single submitter ⚠
- p.Met973Ile Single submitter ⚠
- p.Phe282Leu Single submitter ⚠
- p.Phe565Leu Single submitter ⚠
- p.Phe626Leu Single submitter ⚠
- p.Phe652Ser Single submitter ⚠
- p.Phe716Cys Single submitter ⚠
- p.Pro101Arg Single submitter ⚠
- p.Pro1069Leu Single submitter ⚠
- p.Pro1141Leu Single submitter ⚠
- p.Pro1151Thr Single submitter ⚠
- p.Pro250Leu Single submitter ⚠
- p.Pro265Thr Single submitter ⚠
- p.Pro269Ser Single submitter ⚠
- p.Pro404Arg Single submitter ⚠
- p.Pro53Leu Single submitter ⚠
- p.Pro597Ser Single submitter ⚠
- p.Pro883Leu Single submitter ⚠
- p.Ser1032Thr Single submitter ⚠
- p.Ser143Phe Single submitter ⚠
- p.Ser183Thr Single submitter ⚠
- p.Ser258Gly Single submitter ⚠
- p.Ser293Thr Single submitter ⚠
- p.Ser359Arg Single submitter ⚠
- p.Ser380Gly Single submitter ⚠
- p.Ser684Leu Single submitter ⚠
- p.Ser936Asn Single submitter ⚠
- p.Thr206Pro Single submitter ⚠
- p.Thr292Ala Single submitter ⚠
- p.Thr348Ile Single submitter ⚠
- p.Thr436Asn Single submitter ⚠
- p.Thr471Arg Single submitter ⚠
- p.Thr525Ala Single submitter ⚠
- p.Thr634Arg Single submitter ⚠
- p.Thr651Ala Single submitter ⚠
- p.Thr669Ile Single submitter ⚠
- p.Thr669Pro Single submitter ⚠
- p.Thr728Asn Single submitter ⚠
- p.Thr728Ile Single submitter ⚠
- p.Thr862Met Single submitter ⚠
- p.Trp155Cys Single submitter ⚠
- p.Trp699Gly Single submitter ⚠
- p.Tyr344Cys Single submitter ⚠
- p.Val1113Ala Single submitter ⚠
- p.Val135Ile Single submitter ⚠
- p.Val135Leu Single submitter ⚠
- p.Val182Ala Single submitter ⚠
- p.Val312Leu Single submitter ⚠
- p.Val326Met Single submitter ⚠
- p.Val538Met Single submitter ⚠
- p.Val564Gly Single submitter ⚠
- p.Val668Leu Single submitter ⚠
- p.Val824Ile Single submitter ⚠
- p.Val836Glu Single submitter ⚠
- p.Val961Met Single submitter ⚠
- p.Val981Met Single submitter ⚠
- p.Lys38Glu No assertion criteria ⚠