ABCA5 — 263 ClinVar variants
All ClinVar germline ABCA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 209 flagged for review →
2 Pathogenic · 7 Likely pathogenic · 13 Benign · 40 Likely benign · 201 Uncertain significance
Full ABCA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 209
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ABCA5 p.Arg857Cys
Likely pathogenic
No assertion criteria
gingival fibromatosis-hypertrichosis syndrome
Predictors lean, ClinVar uncertain 132
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ABCA5 p.Ser288Phe
Uncertain significance
Multiple submitters
gingival fibromatosis-hypertrichosis syndrome
- ABCA5 p.Ala1044Thr Uncertain significance Single submitter
- ABCA5 p.Ala1145Val Uncertain significance Single submitter
- ABCA5 p.Ala1147Thr Uncertain significance Single submitter
- ABCA5 p.Ala1467Pro Uncertain significance Single submitter
- ABCA5 p.Ala1478Ser Uncertain significance Single submitter
- ABCA5 p.Ala287Pro Uncertain significance Single submitter
- ABCA5 p.Ala314Ser Uncertain significance Single submitter
- ABCA5 p.Ala797Thr Uncertain significance Single submitter
- ABCA5 p.Arg140His Uncertain significance Single submitter
- ABCA5 p.Arg1484Trp Uncertain significance Single submitter
- ABCA5 p.Arg1634Gln Uncertain significance Single submitter
- ABCA5 p.Arg428Gln Uncertain significance Single submitter
- ABCA5 p.Arg682Lys Uncertain significance Single submitter
- ABCA5 p.Asn590Ser Uncertain significance Single submitter
- ABCA5 p.Asn610Ser Uncertain significance Single submitter
- ABCA5 p.Asp1199Gly Uncertain significance Single submitter
- ABCA5 p.Asp1260Tyr Uncertain significance Single submitter
- ABCA5 p.Asp1371Ala Uncertain significance Single submitter
- ABCA5 p.Asp549Gly Uncertain significance Single submitter
- ABCA5 p.Asp646Tyr Uncertain significance Single submitter
- ABCA5 p.Asp98Gly Uncertain significance Single submitter
- ABCA5 p.Cys1375Tyr Uncertain significance Single submitter
- ABCA5 p.Gln1002Arg Uncertain significance Single submitter
- ABCA5 p.Gln1392Lys Uncertain significance Single submitter
- ABCA5 p.Gln1510Arg Uncertain significance Single submitter
- ABCA5 p.Gln1616Glu Uncertain significance Single submitter
- ABCA5 p.Gln563His Uncertain significance Single submitter
- ABCA5 p.Gln596Arg Uncertain significance Single submitter
- ABCA5 p.Glu1542Gln Uncertain significance Single submitter
- ABCA5 p.Glu1587Gly Uncertain significance Single submitter
- ABCA5 p.Glu492Lys Uncertain significance Single submitter
- ABCA5 p.Gly1336Asp Uncertain significance Single submitter
- ABCA5 p.Gly256Val Uncertain significance Single submitter
- ABCA5 p.Gly328Arg Uncertain significance Single submitter
- ABCA5 p.Gly342Ser Uncertain significance Single submitter
- ABCA5 p.Gly689Arg Uncertain significance Single submitter
- ABCA5 p.His1092Asn Uncertain significance Single submitter
- ABCA5 p.His1167Arg Uncertain significance Single submitter
- ABCA5 p.His239Asp Uncertain significance Single submitter
- ABCA5 p.His364Asp Uncertain significance Single submitter
- ABCA5 p.His953Tyr Uncertain significance Single submitter
- ABCA5 p.Ile1001Thr Uncertain significance Single submitter
- ABCA5 p.Ile1031Val Uncertain significance Single submitter
- ABCA5 p.Ile1343Ser Uncertain significance Single submitter
- ABCA5 p.Ile1416Thr Uncertain significance Single submitter
- ABCA5 p.Ile223Val Uncertain significance Single submitter
- ABCA5 p.Ile397Val Uncertain significance Single submitter
- ABCA5 p.Ile478Val Uncertain significance Single submitter
- ABCA5 p.Ile504Met Uncertain significance Single submitter
- ABCA5 p.Ile5Val Uncertain significance Single submitter
- ABCA5 p.Ile64Val Uncertain significance Single submitter
- ABCA5 p.Leu1057Arg Uncertain significance Single submitter
- ABCA5 p.Leu1088Phe Uncertain significance Single submitter
- ABCA5 p.Leu1420Phe Uncertain significance Single submitter
- ABCA5 p.Leu1488Pro Uncertain significance Single submitter
- ABCA5 p.Leu1530Ser Uncertain significance Single submitter
- ABCA5 p.Leu1530Trp Uncertain significance Single submitter
- ABCA5 p.Leu273Phe Uncertain significance Single submitter
- ABCA5 p.Leu500Val Uncertain significance Single submitter
- ABCA5 p.Leu759Trp Uncertain significance Single submitter
- ABCA5 p.Lys1018Thr Uncertain significance Single submitter
- ABCA5 p.Lys1251Glu Uncertain significance Single submitter
- ABCA5 p.Lys1402Gln Uncertain significance Single submitter
- ABCA5 p.Lys1573Glu Uncertain significance Single submitter
- ABCA5 p.Lys57Glu Uncertain significance Single submitter
- ABCA5 p.Lys57Thr Uncertain significance Single submitter
- ABCA5 p.Lys608Arg Uncertain significance Single submitter
- ABCA5 p.Lys608Asn Uncertain significance Single submitter
- ABCA5 p.Lys887Glu Uncertain significance Single submitter
- ABCA5 p.Lys894Arg Uncertain significance Single submitter
- ABCA5 p.Met1084Lys Uncertain significance Single submitter
- ABCA5 p.Met1447Thr Uncertain significance Single submitter
- ABCA5 p.Met145Thr Uncertain significance Single submitter
- ABCA5 p.Met145Val Uncertain significance Single submitter
- ABCA5 p.Met1471Ile Uncertain significance Single submitter
- ABCA5 p.Met557Ile Uncertain significance Single submitter
- ABCA5 p.Met712Val Uncertain significance Single submitter
- ABCA5 p.Met837Val Uncertain significance Single submitter
- ABCA5 p.Met938Ile Uncertain significance Single submitter
- ABCA5 p.Met976Val Uncertain significance Single submitter
- ABCA5 p.Phe1524Ser Uncertain significance Single submitter
- ABCA5 p.Phe262Ser Uncertain significance Single submitter
- ABCA5 p.Pro1037Leu Uncertain significance Single submitter
- ABCA5 p.Pro1555Ser Uncertain significance Single submitter
- ABCA5 p.Pro217Ser Uncertain significance Single submitter
- ABCA5 p.Pro641Ala Uncertain significance Single submitter
- ABCA5 p.Ser1236Leu Uncertain significance Single submitter
- ABCA5 p.Ser124Asn Uncertain significance Single submitter
- ABCA5 p.Ser1446Asn Uncertain significance Single submitter
- ABCA5 p.Ser170Ala Uncertain significance Single submitter
- ABCA5 p.Ser230Ala Uncertain significance Single submitter
- ABCA5 p.Ser278Pro Uncertain significance Single submitter
- ABCA5 p.Ser649Phe Uncertain significance Single submitter
- ABCA5 p.Ser800Asn Uncertain significance Single submitter
- ABCA5 p.Ser822Gly Uncertain significance Single submitter
- ABCA5 p.Ser914Gly Uncertain significance Single submitter
- ABCA5 p.Ser926Asn Uncertain significance Single submitter
- ABCA5 p.Thr1133Ile Uncertain significance Single submitter
- ABCA5 p.Thr1133Ser Uncertain significance Single submitter
- ABCA5 p.Thr1461Ala Uncertain significance Single submitter
- ABCA5 p.Thr174Ala Uncertain significance Single submitter
- ABCA5 p.Thr200Ile Uncertain significance Single submitter
- ABCA5 p.Thr28Ser Uncertain significance Single submitter
- ABCA5 p.Thr366Ala Uncertain significance Single submitter
- ABCA5 p.Thr3Ala Uncertain significance Single submitter
- ABCA5 p.Trp1537Arg Uncertain significance Single submitter
- ABCA5 p.Trp263Arg Uncertain significance Single submitter
- ABCA5 p.Trp357Cys Uncertain significance Single submitter
- ABCA5 p.Trp45Cys Uncertain significance Single submitter
- ABCA5 p.Trp45Ser Uncertain significance Single submitter
- ABCA5 p.Trp840Ser Uncertain significance Single submitter
- ABCA5 p.Tyr1121Cys Uncertain significance Single submitter
- ABCA5 p.Tyr1177Cys Uncertain significance Single submitter
- ABCA5 p.Tyr505His Uncertain significance Single submitter
- ABCA5 p.Tyr708Cys Uncertain significance Single submitter
- ABCA5 p.Tyr746His Uncertain significance Single submitter
- ABCA5 p.Tyr947Phe Uncertain significance Single submitter
- ABCA5 p.Val1106Ile Uncertain significance Single submitter
- ABCA5 p.Val1412Leu Uncertain significance Single submitter
- ABCA5 p.Val148Ile Uncertain significance Single submitter
- ABCA5 p.Val1517Ile Uncertain significance Single submitter
- ABCA5 p.Val1640Leu Uncertain significance Single submitter
- ABCA5 p.Val175Ile Uncertain significance Single submitter
- ABCA5 p.Val267Ile Uncertain significance Single submitter
- ABCA5 p.Val336Met Uncertain significance Single submitter
- ABCA5 p.Val356Glu Uncertain significance Single submitter
- ABCA5 p.Val411Ile Uncertain significance Single submitter
- ABCA5 p.Val595Ala Uncertain significance Single submitter
- ABCA5 p.Val862Leu Uncertain significance Single submitter
- ABCA5 p.Val950Met Uncertain significance Single submitter
- ABCA5 p.Val971Leu Uncertain significance Single submitter
Predictors split 76
The independent predictors disagree with each other — read with care.
-
ABCA5 p.Asn190Ser
Likely benign
Multiple submitters
gingival fibromatosis-hypertrichosis syndrome
- ABCA5 p.Asp817Tyr Likely benign Multiple submitters
- ABCA5 p.Gly1159Arg Likely benign Multiple submitters
- ABCA5 p.Ile871Thr Benign Multiple submitters
- ABCA5 p.Ala1315Thr Likely benign Single submitter
- ABCA5 p.Ala261Ser Likely benign Single submitter
- ABCA5 p.Ala384Gly Uncertain significance Single submitter
- ABCA5 p.Ala680Ser Uncertain significance Single submitter
- ABCA5 p.Ala848Thr Uncertain significance Single submitter
- ABCA5 p.Arg1545Cys Uncertain significance Single submitter
- ABCA5 p.Arg1559Cys Uncertain significance Single submitter
- ABCA5 p.Arg1634Pro Uncertain significance Single submitter
- ABCA5 p.Arg428Trp Uncertain significance Single submitter
- ABCA5 p.Arg709Cys Uncertain significance Single submitter
- ABCA5 p.Asn1294Ser Uncertain significance Single submitter
- ABCA5 p.Asn663Ser Uncertain significance Single submitter
- ABCA5 p.Asp795Val Uncertain significance Single submitter
- ABCA5 p.Asp924Gly Uncertain significance Single submitter
- ABCA5 p.Asp946Ala Uncertain significance Single submitter
- ABCA5 p.Cys1322Phe Uncertain significance Single submitter
- ABCA5 p.Gln1510His Uncertain significance Single submitter
- ABCA5 p.Glu1596Gly Uncertain significance Single submitter
- ABCA5 p.Glu448Gly Uncertain significance Single submitter
- ABCA5 p.Glu574Gly Uncertain significance Single submitter
- ABCA5 p.His567Tyr Uncertain significance Single submitter
- ABCA5 p.His651Tyr Uncertain significance Single submitter
- ABCA5 p.His909Pro Uncertain significance Single submitter
- ABCA5 p.Ile1140Met Uncertain significance Single submitter
- ABCA5 p.Ile1595Val Uncertain significance Single submitter
- ABCA5 p.Ile248Lys Uncertain significance Single submitter
- ABCA5 p.Ile540Met Uncertain significance Single submitter
- ABCA5 p.Ile583Val Uncertain significance Single submitter
- ABCA5 p.Ile586Leu Uncertain significance Single submitter
- ABCA5 p.Ile591Lys Uncertain significance Single submitter
- ABCA5 p.Leu305Phe Uncertain significance Single submitter
- ABCA5 p.Leu571Val Uncertain significance Single submitter
- ABCA5 p.Leu867Arg Uncertain significance Single submitter
- ABCA5 p.Leu928Val Uncertain significance Single submitter
- ABCA5 p.Lys201Glu Uncertain significance Single submitter
- ABCA5 p.Lys634Gln Uncertain significance Single submitter
- ABCA5 p.Met1041Ile Uncertain significance Single submitter
- ABCA5 p.Met1447Val Uncertain significance Single submitter
- ABCA5 p.Met1463Val Uncertain significance Single submitter
- ABCA5 p.Met1506Val Uncertain significance Single submitter
- ABCA5 p.Phe1091Ser Uncertain significance Single submitter
- ABCA5 p.Phe1119Leu Uncertain significance Single submitter
- ABCA5 p.Phe1125Leu Uncertain significance Single submitter
- ABCA5 p.Phe1593Ile Uncertain significance Single submitter
- ABCA5 p.Phe312Ile Uncertain significance Single submitter
-
ABCA5 p.Pro1007Leu
Uncertain significance
Single submitter
gingival fibromatosis-hypertrichosis syndrome
- ABCA5 p.Pro147Leu Uncertain significance Single submitter
- ABCA5 p.Pro437Ala Uncertain significance Single submitter
- ABCA5 p.Ser118Phe Likely benign Single submitter
- ABCA5 p.Ser350Arg Uncertain significance Single submitter
- ABCA5 p.Ser624Leu Uncertain significance Single submitter
- ABCA5 p.Ser669Asn Uncertain significance Single submitter
- ABCA5 p.Ser934Arg Uncertain significance Single submitter
- ABCA5 p.Thr14Ile Uncertain significance Single submitter
- ABCA5 p.Thr486Ala Uncertain significance Single submitter
- ABCA5 p.Thr846Lys Likely benign Single submitter
- ABCA5 p.Thr940Met Uncertain significance Single submitter
- ABCA5 p.Thr998Ala Uncertain significance Single submitter
- ABCA5 p.Tyr1093Cys Uncertain significance Single submitter
- ABCA5 p.Tyr1096Cys Uncertain significance Single submitter
- ABCA5 p.Tyr1112Cys Uncertain significance Single submitter
- ABCA5 p.Tyr1141Cys Uncertain significance Single submitter
- ABCA5 p.Tyr137Cys Uncertain significance Single submitter
- ABCA5 p.Tyr410Cys Uncertain significance Single submitter
- ABCA5 p.Tyr541Cys Uncertain significance Single submitter
- ABCA5 p.Tyr746Cys Uncertain significance Single submitter
- ABCA5 p.Tyr947Cys Uncertain significance Single submitter
- ABCA5 p.Val374Leu Uncertain significance Single submitter
- ABCA5 p.Val468Phe Uncertain significance Single submitter
- ABCA5 p.Val494Met Uncertain significance Single submitter
- ABCA5 p.Val959Met Uncertain significance Single submitter
-
ABCA5 p.Ala178Thr
Benign
No assertion criteria
ABCA5-related disorder
All ABCA5 variants
Pathogenic 2
- p.Arg1502Ter Single submitter gingival fibromatosis-hypertrichosis syndrome
- p.Pro83fs No assertion criteria hypercholesterolemia, familial, 1
Likely pathogenic 7
- p.Arg1439Ter Single submitter gingival fibromatosis-hypertrichosis syndrome
- p.Arg544fs Single submitter gingival fibromatosis-hypertrichosis syndrome
- p.Glu1424Ter Single submitter gingival fibromatosis-hypertrichosis syndrome
- p.His326fs Single submitter gingival fibromatosis-hypertrichosis syndrome
- p.Leu1055fs Single submitter gingival fibromatosis-hypertrichosis syndrome
- p.Leu723fs Single submitter
- p.Arg857Cys No assertion criteria gingival fibromatosis-hypertrichosis syndrome ⚠
Benign 13
- p.Asn768Asp Multiple submitters
- p.Ile871Thr Multiple submitters ⚠
- p.Ser469Ala Multiple submitters
- p.Cys1322= Single submitter
- p.Gly128= Single submitter
- p.Phe321Leu Single submitter
- p.Ser885= Single submitter
- c.3859-4T>C No assertion criteria ABCA5-related disorder
- p.Ala178Thr No assertion criteria ABCA5-related disorder ⚠
- p.Gln484Arg No assertion criteria ABCA5-related disorder
- p.Leu1089= No assertion criteria ABCA5-related disorder
- p.Leu1131= No assertion criteria ABCA5-related disorder
- p.Leu1183= No assertion criteria ABCA5-related disorder
Likely benign 40
- p.Asn190Ser Multiple submitters gingival fibromatosis-hypertrichosis syndrome ⚠
- p.Asp817Tyr Multiple submitters ⚠
- p.Gly1159Arg Multiple submitters ⚠
- p.Ile1173Val Multiple submitters
- p.Ser354= Multiple submitters
- c.1120-9A>G Single submitter
- c.2595-8C>T Single submitter
- c.308-5T>C Single submitter
- c.3144+4dup Single submitter
- c.4535+7G>A Single submitter
- c.4765+3A>G Single submitter
- p.Ala1315Thr Single submitter ⚠
- p.Ala261Ser Single submitter ⚠
- p.Asn493= Single submitter
- p.Asn63Asp Single submitter
- p.Asp1260Asn Single submitter
- p.Cys528= Single submitter
- p.Glu495= Single submitter
- p.Ile1079Val Single submitter
- p.Ile1151Val Single submitter
- p.Ile591Val Single submitter
- p.Ile986Val Single submitter
- p.Leu396= Single submitter
- p.Leu691= Single submitter
- p.Pro352= Single submitter
- p.Ser118Phe Single submitter ⚠
- p.Ser90Asn Single submitter
- p.Thr846Lys Single submitter ⚠
- p.Thr97Ala Single submitter
- p.Val103= Single submitter
- p.Val411= Single submitter
- c.2595-9del No assertion criteria ABCA5-related disorder
- c.4415+3G>A No assertion criteria ABCA5-related disorder
- c.788+8A>C No assertion criteria ABCA5-related disorder
- p.Ala1444= No assertion criteria ABCA5-related disorder
- p.Arg555= No assertion criteria ABCA5-related disorder
- p.Thr1248Met No assertion criteria ABCA5-related disorder
- p.Thr16= No assertion criteria ABCA5-related disorder
- p.Thr779= No assertion criteria ABCA5-related disorder
- p.Val1507= No assertion criteria ABCA5-related disorder
Uncertain significance 201
- p.Ser288Phe Multiple submitters gingival fibromatosis-hypertrichosis syndrome ⚠
- c.3429+39G>C Single submitter
- c.4320+1G>C Single submitter gingival fibromatosis-hypertrichosis syndrome
- p.Ala1044Thr Single submitter ⚠
- p.Ala1145Val Single submitter ⚠
- p.Ala1147Thr Single submitter ⚠
- p.Ala1467Pro Single submitter ⚠
- p.Ala1478Ser Single submitter ⚠
- p.Ala287Pro Single submitter ⚠
- p.Ala314Ser Single submitter ⚠
- p.Ala384Gly Single submitter ⚠
- p.Ala680Ser Single submitter ⚠
- p.Ala797Thr Single submitter ⚠
- p.Ala848Thr Single submitter ⚠
- p.Arg140His Single submitter ⚠
- p.Arg1484Trp Single submitter ⚠
- p.Arg1545Cys Single submitter ⚠
- p.Arg1559Cys Single submitter ⚠
- p.Arg1634Gln Single submitter ⚠
- p.Arg1634Pro Single submitter ⚠
- p.Arg428Gln Single submitter ⚠
- p.Arg428Trp Single submitter ⚠
- p.Arg682Lys Single submitter ⚠
- p.Arg709Cys Single submitter ⚠
- p.Asn1294Ser Single submitter ⚠
- p.Asn590Ser Single submitter ⚠
- p.Asn610Ser Single submitter ⚠
- p.Asn663Ser Single submitter ⚠
- p.Asp1199Gly Single submitter ⚠
- p.Asp1260Tyr Single submitter ⚠
- p.Asp1371Ala Single submitter ⚠
- p.Asp549Gly Single submitter ⚠
- p.Asp646Tyr Single submitter ⚠
- p.Asp795Val Single submitter ⚠
- p.Asp924Gly Single submitter ⚠
- p.Asp946Ala Single submitter ⚠
- p.Asp98Gly Single submitter ⚠
- p.Cys1322Phe Single submitter ⚠
- p.Cys1375Tyr Single submitter ⚠
- p.Gln1002Arg Single submitter ⚠
- p.Gln1392Lys Single submitter ⚠
- p.Gln1510Arg Single submitter ⚠
- p.Gln1510His Single submitter ⚠
- p.Gln1616Glu Single submitter ⚠
- p.Gln563His Single submitter ⚠
- p.Gln596Arg Single submitter ⚠
- p.Glu1542Gln Single submitter ⚠
- p.Glu1587Gly Single submitter ⚠
- p.Glu1596Gly Single submitter ⚠
- p.Glu448Gly Single submitter ⚠
- p.Glu492Lys Single submitter ⚠
- p.Glu574Gly Single submitter ⚠
- p.Gly1336Asp Single submitter ⚠
- p.Gly256Val Single submitter ⚠
- p.Gly328Arg Single submitter ⚠
- p.Gly342Ser Single submitter ⚠
- p.Gly689Arg Single submitter ⚠
- p.His1092Asn Single submitter ⚠
- p.His1167Arg Single submitter ⚠
- p.His239Asp Single submitter ⚠
- p.His364Asp Single submitter ⚠
- p.His567Tyr Single submitter ⚠
- p.His651Tyr Single submitter ⚠
- p.His909Pro Single submitter ⚠
- p.His953Tyr Single submitter ⚠
- p.Ile1001Thr Single submitter ⚠
- p.Ile1031Val Single submitter ⚠
- p.Ile1140Met Single submitter ⚠
- p.Ile1343Ser Single submitter ⚠
- p.Ile1416Thr Single submitter ⚠
- p.Ile1595Val Single submitter ⚠
- p.Ile223Val Single submitter ⚠
- p.Ile248Lys Single submitter ⚠
- p.Ile397Val Single submitter ⚠
- p.Ile478Val Single submitter ⚠
- p.Ile504Met Single submitter ⚠
- p.Ile540Met Single submitter ⚠
- p.Ile583Val Single submitter ⚠
- p.Ile586Leu Single submitter ⚠
- p.Ile591Lys Single submitter ⚠
- p.Ile5Val Single submitter ⚠
- p.Ile64Val Single submitter ⚠
- p.Leu1057Arg Single submitter ⚠
- p.Leu1088Phe Single submitter ⚠
- p.Leu1420Phe Single submitter ⚠
- p.Leu1488Pro Single submitter ⚠
- p.Leu1530Ser Single submitter ⚠
- p.Leu1530Trp Single submitter ⚠
- p.Leu273Phe Single submitter ⚠
- p.Leu305Phe Single submitter ⚠
- p.Leu500Val Single submitter ⚠
- p.Leu571Val Single submitter ⚠
- p.Leu759Trp Single submitter ⚠
- p.Leu867Arg Single submitter ⚠
- p.Leu928Val Single submitter ⚠
- p.Lys1018Thr Single submitter ⚠
- p.Lys1251Glu Single submitter ⚠
- p.Lys1402Gln Single submitter ⚠
- p.Lys1573Glu Single submitter ⚠
- p.Lys201Glu Single submitter ⚠
- p.Lys57Glu Single submitter ⚠
- p.Lys57Thr Single submitter ⚠
- p.Lys608Arg Single submitter ⚠
- p.Lys608Asn Single submitter ⚠
- p.Lys634Gln Single submitter ⚠
- p.Lys887Glu Single submitter ⚠
- p.Lys894Arg Single submitter ⚠
- p.Met1041Ile Single submitter ⚠
- p.Met1084Lys Single submitter ⚠
- p.Met1447Thr Single submitter ⚠
- p.Met1447Val Single submitter ⚠
- p.Met145Thr Single submitter ⚠
- p.Met145Val Single submitter ⚠
- p.Met1463Val Single submitter ⚠
- p.Met1471Ile Single submitter ⚠
- p.Met1506Val Single submitter ⚠
- p.Met557Ile Single submitter ⚠
- p.Met712Val Single submitter ⚠
- p.Met837Val Single submitter ⚠
- p.Met938Ile Single submitter ⚠
- p.Met976Val Single submitter ⚠
- p.Phe1091Ser Single submitter ⚠
- p.Phe1119Leu Single submitter ⚠
- p.Phe1125Leu Single submitter ⚠
- p.Phe1524Ser Single submitter ⚠
- p.Phe1593Ile Single submitter ⚠
- p.Phe262Ser Single submitter ⚠
- p.Phe312Ile Single submitter ⚠
- p.Pro1007Leu Single submitter gingival fibromatosis-hypertrichosis syndrome ⚠
- p.Pro1037Leu Single submitter ⚠
- p.Pro147Leu Single submitter ⚠
- p.Pro1555Ser Single submitter ⚠
- p.Pro217Ser Single submitter ⚠
- p.Pro437Ala Single submitter ⚠
- p.Pro641Ala Single submitter ⚠
- p.Ser1236Leu Single submitter ⚠
- p.Ser124Asn Single submitter ⚠
- p.Ser1446Asn Single submitter ⚠
- p.Ser170Ala Single submitter ⚠
- p.Ser230Ala Single submitter ⚠
- p.Ser278Pro Single submitter ⚠
- p.Ser350Arg Single submitter ⚠
- p.Ser624Leu Single submitter ⚠
- p.Ser649Phe Single submitter ⚠
- p.Ser669Asn Single submitter ⚠
- p.Ser800Asn Single submitter ⚠
- p.Ser822Gly Single submitter ⚠
- p.Ser914Gly Single submitter ⚠
- p.Ser926Asn Single submitter ⚠
- p.Ser934Arg Single submitter ⚠
- p.Thr1133Ile Single submitter ⚠
- p.Thr1133Ser Single submitter ⚠
- p.Thr1461Ala Single submitter ⚠
- p.Thr14Ile Single submitter ⚠
- p.Thr174Ala Single submitter ⚠
- p.Thr200Ile Single submitter ⚠
- p.Thr28Ser Single submitter ⚠
- p.Thr366Ala Single submitter ⚠
- p.Thr3Ala Single submitter ⚠
- p.Thr486Ala Single submitter ⚠
- p.Thr940Met Single submitter ⚠
- p.Thr998Ala Single submitter ⚠
- p.Trp1537Arg Single submitter ⚠
- p.Trp263Arg Single submitter ⚠
- p.Trp357Cys Single submitter ⚠
- p.Trp45Cys Single submitter ⚠
- p.Trp45Ser Single submitter ⚠
- p.Trp840Ser Single submitter ⚠
- p.Tyr1093Cys Single submitter ⚠
- p.Tyr1096Cys Single submitter ⚠
- p.Tyr1112Cys Single submitter ⚠
- p.Tyr1121Cys Single submitter ⚠
- p.Tyr1141Cys Single submitter ⚠
- p.Tyr1177Cys Single submitter ⚠
- p.Tyr137Cys Single submitter ⚠
- p.Tyr410Cys Single submitter ⚠
- p.Tyr505His Single submitter ⚠
- p.Tyr541Cys Single submitter ⚠
- p.Tyr708Cys Single submitter ⚠
- p.Tyr746Cys Single submitter ⚠
- p.Tyr746His Single submitter ⚠
- p.Tyr947Cys Single submitter ⚠
- p.Tyr947Phe Single submitter ⚠
- p.Val1106Ile Single submitter ⚠
- p.Val1412Leu Single submitter ⚠
- p.Val148Ile Single submitter ⚠
- p.Val1517Ile Single submitter ⚠
- p.Val1640Leu Single submitter ⚠
- p.Val175Ile Single submitter ⚠
- p.Val267Ile Single submitter ⚠
- p.Val336Met Single submitter ⚠
- p.Val356Glu Single submitter ⚠
- p.Val374Leu Single submitter ⚠
- p.Val411Ile Single submitter ⚠
- p.Val468Phe Single submitter ⚠
- p.Val494Met Single submitter ⚠
- p.Val595Ala Single submitter ⚠
- p.Val862Leu Single submitter ⚠
- p.Val950Met Single submitter ⚠
- p.Val959Met Single submitter ⚠
- p.Val971Leu Single submitter ⚠