CEMIP2 — 227 ClinVar variants
All ClinVar germline CEMIP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 209 flagged for review →
2 Pathogenic · 1 Benign · 1 Benign/Likely benign · 14 Likely benign · 209 Uncertain significance
Full CEMIP2 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 lean, ClinVar uncertain 121
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CEMIP2 p.Ala1134Gly Uncertain significance Single submitter
- CEMIP2 p.Ala1168Val Uncertain significance Single submitter
- CEMIP2 p.Ala191Gly Uncertain significance Single submitter
- CEMIP2 p.Ala200Val Uncertain significance Single submitter
- CEMIP2 p.Ala504Thr Uncertain significance Single submitter
- CEMIP2 p.Ala668Thr Uncertain significance Single submitter
- CEMIP2 p.Arg1054Gln Uncertain significance Single submitter
- CEMIP2 p.Arg1183Trp Uncertain significance Single submitter
- CEMIP2 p.Arg1198Gln Uncertain significance Single submitter
- CEMIP2 p.Arg119His Uncertain significance Single submitter
- CEMIP2 p.Arg1364Ile Uncertain significance Single submitter
- CEMIP2 p.Arg1369Leu Uncertain significance Single submitter
- CEMIP2 p.Arg22Ser Uncertain significance Single submitter
- CEMIP2 p.Arg409Gln Uncertain significance Single submitter
- CEMIP2 p.Arg409Leu Uncertain significance Single submitter
- CEMIP2 p.Arg614Lys Uncertain significance Single submitter
- CEMIP2 p.Arg758Gln Uncertain significance Single submitter
- CEMIP2 p.Arg769Cys Uncertain significance Single submitter
- CEMIP2 p.Arg769His Uncertain significance Single submitter
- CEMIP2 p.Arg974His Uncertain significance Single submitter
- CEMIP2 p.Asn1064Ser Uncertain significance Single submitter
- CEMIP2 p.Asn1329Asp Uncertain significance Single submitter
- CEMIP2 p.Asn615Ile Uncertain significance Single submitter
- CEMIP2 p.Asn620Asp Uncertain significance Single submitter
- CEMIP2 p.Asn636Lys Uncertain significance Single submitter
- CEMIP2 p.Asn673Asp Uncertain significance Single submitter
- CEMIP2 p.Asn782His Uncertain significance Single submitter
- CEMIP2 p.Asn81Thr Uncertain significance Single submitter
- CEMIP2 p.Asp1317Glu Uncertain significance Single submitter
- CEMIP2 p.Asp262Val Uncertain significance Single submitter
- CEMIP2 p.Asp645His Uncertain significance Single submitter
- CEMIP2 p.Asp969Ala Uncertain significance Single submitter
- CEMIP2 p.Cys1144Phe Uncertain significance Single submitter
- CEMIP2 p.Cys1149Arg Uncertain significance Single submitter
- CEMIP2 p.Cys1166Tyr Uncertain significance Single submitter
- CEMIP2 p.Cys1253Tyr Uncertain significance Single submitter
- CEMIP2 p.Cys502Arg Uncertain significance Single submitter
- CEMIP2 p.Cys508Tyr Uncertain significance Single submitter
- CEMIP2 p.Cys581Gly Uncertain significance Single submitter
- CEMIP2 p.Cys978Arg Uncertain significance Single submitter
- CEMIP2 p.Gln1173Arg Uncertain significance Single submitter
- CEMIP2 p.Gln127Leu Uncertain significance Single submitter
- CEMIP2 p.Gln1351Glu Uncertain significance Single submitter
- CEMIP2 p.Gln17His Uncertain significance Single submitter
- CEMIP2 p.Gln324Arg Uncertain significance Single submitter
- CEMIP2 p.Gln389Arg Uncertain significance Single submitter
- CEMIP2 p.Gln507His Uncertain significance Single submitter
- CEMIP2 p.Gln67Arg Uncertain significance Single submitter
- CEMIP2 p.Gln67Glu Uncertain significance Single submitter
- CEMIP2 p.Gln74Glu Uncertain significance Single submitter
- CEMIP2 p.Glu1116Lys Uncertain significance Single submitter
- CEMIP2 p.Glu225Lys Uncertain significance Single submitter
- CEMIP2 p.Glu337Ala Uncertain significance Single submitter
- CEMIP2 p.Glu766Lys Uncertain significance Single submitter
- CEMIP2 p.Glu938Asp Uncertain significance Single submitter
- CEMIP2 p.Gly266Asp Uncertain significance Single submitter
- CEMIP2 p.Gly375Arg Uncertain significance Single submitter
- CEMIP2 p.Gly402Val Uncertain significance Single submitter
- CEMIP2 p.Gly734Ser Uncertain significance Single submitter
- CEMIP2 p.Gly791Glu Uncertain significance Single submitter
-
CEMIP2 p.Gly8Arg
Uncertain significance
Single submitter
congenital heart disease
- CEMIP2 p.His1207Arg Uncertain significance Single submitter
- CEMIP2 p.His1207Tyr Uncertain significance Single submitter
- CEMIP2 p.His1302Tyr Uncertain significance Single submitter
- CEMIP2 p.Ile1273Val Uncertain significance Single submitter
- CEMIP2 p.Ile312Val Uncertain significance Single submitter
- CEMIP2 p.Ile433Thr Uncertain significance Single submitter
- CEMIP2 p.Ile52Phe Uncertain significance Single submitter
- CEMIP2 p.Ile582Leu Uncertain significance Single submitter
- CEMIP2 p.Ile774Val Uncertain significance Single submitter
- CEMIP2 p.Ile868Val Uncertain significance Single submitter
- CEMIP2 p.Ile878Val Uncertain significance Single submitter
- CEMIP2 p.Ile909Val Uncertain significance Single submitter
- CEMIP2 p.Ile953Thr Uncertain significance Single submitter
- CEMIP2 p.Leu1110Pro Uncertain significance Single submitter
- CEMIP2 p.Leu1346Val Uncertain significance Single submitter
- CEMIP2 p.Leu322Pro Uncertain significance Single submitter
- CEMIP2 p.Leu334Trp Uncertain significance Single submitter
- CEMIP2 p.Lys1042Arg Uncertain significance Single submitter
- CEMIP2 p.Lys1065Glu Uncertain significance Single submitter
- CEMIP2 p.Lys1161Asn Uncertain significance Single submitter
- CEMIP2 p.Met1008Thr Uncertain significance Single submitter
- CEMIP2 p.Met481Leu Uncertain significance Single submitter
- CEMIP2 p.Met643Val Uncertain significance Single submitter
- CEMIP2 p.Met942Thr Uncertain significance Single submitter
- CEMIP2 p.Phe303Leu Uncertain significance Single submitter
- CEMIP2 p.Phe408Tyr Uncertain significance Single submitter
- CEMIP2 p.Phe730Cys Uncertain significance Single submitter
- CEMIP2 p.Phe831Leu Uncertain significance Single submitter
- CEMIP2 p.Phe93Ile Uncertain significance Single submitter
- CEMIP2 p.Pro1016Leu Uncertain significance Single submitter
- CEMIP2 p.Pro1172Ser Uncertain significance Single submitter
- CEMIP2 p.Pro1178Leu Uncertain significance Single submitter
- CEMIP2 p.Pro627Leu Uncertain significance Single submitter
- CEMIP2 p.Pro933Ala Uncertain significance Single submitter
- CEMIP2 p.Ser1017Thr Uncertain significance Single submitter
- CEMIP2 p.Ser1145Leu Uncertain significance Single submitter
- CEMIP2 p.Ser1164Gly Uncertain significance Single submitter
- CEMIP2 p.Ser1320Asn Uncertain significance Single submitter
- CEMIP2 p.Ser1340Arg Uncertain significance Single submitter
- CEMIP2 p.Ser264Phe Uncertain significance Single submitter
- CEMIP2 p.Ser360Tyr Uncertain significance Single submitter
- CEMIP2 p.Ser823Gly Uncertain significance Single submitter
- CEMIP2 p.Thr1189Ala Uncertain significance Single submitter
- CEMIP2 p.Thr1189Ser Uncertain significance Single submitter
- CEMIP2 p.Thr1223Ile Uncertain significance Single submitter
- CEMIP2 p.Thr1291Ile Uncertain significance Single submitter
- CEMIP2 p.Thr1335Ser Uncertain significance Single submitter
- CEMIP2 p.Thr359Ala Uncertain significance Single submitter
- CEMIP2 p.Thr642Pro Uncertain significance Single submitter
- CEMIP2 p.Thr89Ile Uncertain significance Single submitter
- CEMIP2 p.Val1071Phe Uncertain significance Single submitter
- CEMIP2 p.Val1152Leu Uncertain significance Single submitter
- CEMIP2 p.Val1264Leu Uncertain significance Single submitter
- CEMIP2 p.Val1305Ile Uncertain significance Single submitter
- CEMIP2 p.Val365Met Uncertain significance Single submitter
- CEMIP2 p.Val413Ala Uncertain significance Single submitter
- CEMIP2 p.Val721Ile Uncertain significance Single submitter
- CEMIP2 p.Val796Ile Uncertain significance Single submitter
- CEMIP2 p.Val918Met Uncertain significance Single submitter
- CEMIP2 p.Val998Ala Uncertain significance Single submitter
Predictors split 88
The independent predictors disagree with each other — read with care.
- CEMIP2 p.Asp164Val Uncertain significance Multiple submitters
- CEMIP2 p.Ala186Val Uncertain significance Single submitter
- CEMIP2 p.Arg119Cys Uncertain significance Single submitter
- CEMIP2 p.Arg1225Cys Uncertain significance Single submitter
- CEMIP2 p.Arg1225His Uncertain significance Single submitter
- CEMIP2 p.Arg1258Cys Uncertain significance Single submitter
- CEMIP2 p.Arg1258His Uncertain significance Single submitter
- CEMIP2 p.Arg1272Cys Uncertain significance Single submitter
- CEMIP2 p.Arg1369Cys Uncertain significance Single submitter
- CEMIP2 p.Arg142Cys Uncertain significance Single submitter
- CEMIP2 p.Arg195Cys Uncertain significance Single submitter
- CEMIP2 p.Arg236Trp Uncertain significance Single submitter
- CEMIP2 p.Arg270Gly Uncertain significance Single submitter
- CEMIP2 p.Arg270Ser Uncertain significance Single submitter
- CEMIP2 p.Arg296Gln Uncertain significance Single submitter
- CEMIP2 p.Arg36Gly Uncertain significance Single submitter
- CEMIP2 p.Arg381Thr Uncertain significance Single submitter
- CEMIP2 p.Arg57Trp Uncertain significance Single submitter
- CEMIP2 p.Arg78Thr Uncertain significance Single submitter
- CEMIP2 p.Arg974Cys Uncertain significance Single submitter
- CEMIP2 p.Asn1234Ser Uncertain significance Single submitter
- CEMIP2 p.Asn268Ser Uncertain significance Single submitter
- CEMIP2 p.Asn636Tyr Uncertain significance Single submitter
- CEMIP2 p.Asp164Gly Uncertain significance Single submitter
- CEMIP2 p.Asp167Gly Uncertain significance Single submitter
- CEMIP2 p.Asp422Tyr Uncertain significance Single submitter
- CEMIP2 p.Asp514Asn Uncertain significance Single submitter
- CEMIP2 p.Asp570Asn Uncertain significance Single submitter
- CEMIP2 p.Gln1344Leu Uncertain significance Single submitter
- CEMIP2 p.Gln541Lys Uncertain significance Single submitter
- CEMIP2 p.Glu1109Lys Uncertain significance Single submitter
- CEMIP2 p.Glu210Lys Uncertain significance Single submitter
- CEMIP2 p.Glu260Gly Uncertain significance Single submitter
- CEMIP2 p.Glu65Val Uncertain significance Single submitter
- CEMIP2 p.Gly1347Ala Uncertain significance Single submitter
- CEMIP2 p.Gly19Arg Uncertain significance Single submitter
- CEMIP2 p.Gly251Ala Uncertain significance Single submitter
- CEMIP2 p.Gly478Ser Uncertain significance Single submitter
- CEMIP2 p.Gly571Ser Uncertain significance Single submitter
- CEMIP2 p.Gly934Cys Uncertain significance Single submitter
- CEMIP2 p.His530Tyr Uncertain significance Single submitter
- CEMIP2 p.Ile152Val Uncertain significance Single submitter
- CEMIP2 p.Ile433Val Uncertain significance Single submitter
- CEMIP2 p.Ile476Thr Uncertain significance Single submitter
- CEMIP2 p.Ile492Thr Uncertain significance Single submitter
- CEMIP2 p.Ile899Thr Uncertain significance Single submitter
- CEMIP2 p.Ile988Thr Uncertain significance Single submitter
- CEMIP2 p.Leu160Val Uncertain significance Single submitter
- CEMIP2 p.Leu280Ser Uncertain significance Single submitter
-
CEMIP2 p.Leu322Val
Uncertain significance
Single submitter
congenital heart disease
- CEMIP2 p.Leu749Phe Uncertain significance Single submitter
- CEMIP2 p.Leu749Val Uncertain significance Single submitter
- CEMIP2 p.Lys77Thr Uncertain significance Single submitter
- CEMIP2 p.Phe1129Leu Uncertain significance Single submitter
- CEMIP2 p.Phe469Leu Uncertain significance Single submitter
- CEMIP2 p.Phe725Leu Uncertain significance Single submitter
- CEMIP2 p.Phe730Leu Uncertain significance Single submitter
- CEMIP2 p.Pro1019Ser Uncertain significance Single submitter
- CEMIP2 p.Pro1228Leu Likely benign Single submitter
- CEMIP2 p.Pro1252Leu Uncertain significance Single submitter
- CEMIP2 p.Pro1283Leu Uncertain significance Single submitter
- CEMIP2 p.Pro1332Ala Uncertain significance Single submitter
- CEMIP2 p.Pro38Leu Uncertain significance Single submitter
- CEMIP2 p.Pro429Leu Uncertain significance Single submitter
- CEMIP2 p.Ser1254Arg Uncertain significance Single submitter
- CEMIP2 p.Ser1285Cys Uncertain significance Single submitter
- CEMIP2 p.Ser21Arg Uncertain significance Single submitter
- CEMIP2 p.Ser282Gly Uncertain significance Single submitter
- CEMIP2 p.Ser883Asn Uncertain significance Single submitter
- CEMIP2 p.Thr1084Ile Uncertain significance Single submitter
- CEMIP2 p.Thr1339Ala Uncertain significance Single submitter
-
CEMIP2 p.Thr148Ser
Uncertain significance
Single submitter
congenital heart disease
- CEMIP2 p.Thr176Ser Uncertain significance Single submitter
- CEMIP2 p.Thr201Ile Uncertain significance Single submitter
- CEMIP2 p.Thr246Ser Uncertain significance Single submitter
-
CEMIP2 p.Thr326Pro
Uncertain significance
Single submitter
congenital heart disease
- CEMIP2 p.Thr394Ile Uncertain significance Single submitter
- CEMIP2 p.Thr583Ala Uncertain significance Single submitter
- CEMIP2 p.Thr737Ala Uncertain significance Single submitter
- CEMIP2 p.Thr865Met Uncertain significance Single submitter
- CEMIP2 p.Tyr997Phe Uncertain significance Single submitter
- CEMIP2 p.Val1213Met Uncertain significance Single submitter
- CEMIP2 p.Val149Met Uncertain significance Single submitter
- CEMIP2 p.Val224Met Uncertain significance Single submitter
- CEMIP2 p.Val434Ala Uncertain significance Single submitter
- CEMIP2 p.Val584Met Uncertain significance Single submitter
- CEMIP2 p.Val848Ala Uncertain significance Single submitter
- CEMIP2 p.Val996Ala Uncertain significance Single submitter
All CEMIP2 variants
Pathogenic 2
- p.Cys453Tyr Single submitter Hypertelorism
- p.Trp1048Ter Single submitter Hypertelorism
Benign 1
- c.3956-20dup Single submitter
Benign/Likely benign 1
- c.3956-20_3956-18dup No assertion criteria
Likely benign 14
- p.Arg1241Gln Single submitter
- p.Arg1369His Single submitter
- p.Arg22His Single submitter
- p.Arg57Gln Single submitter
- p.Asn785His Single submitter
- p.Gly473= Single submitter
- p.His23Arg Single submitter
- p.Ile1322Val Single submitter
- p.Ile476Val Single submitter
- p.Phe221= Single submitter
- p.Pro1228Leu Single submitter ⚠
- p.Pro24Ser Single submitter
- p.Ser249= Single submitter
- p.Val1245= Single submitter
Uncertain significance 209
- p.Asp164Val Multiple submitters ⚠
- p.Ala1134Gly Single submitter ⚠
- p.Ala1168Val Single submitter ⚠
- p.Ala186Val Single submitter ⚠
- p.Ala191Gly Single submitter ⚠
- p.Ala200Val Single submitter ⚠
- p.Ala504Thr Single submitter ⚠
- p.Ala668Thr Single submitter ⚠
- p.Arg1054Gln Single submitter ⚠
- p.Arg1183Trp Single submitter ⚠
- p.Arg1198Gln Single submitter ⚠
- p.Arg119Cys Single submitter ⚠
- p.Arg119His Single submitter ⚠
- p.Arg1225Cys Single submitter ⚠
- p.Arg1225His Single submitter ⚠
- p.Arg1258Cys Single submitter ⚠
- p.Arg1258His Single submitter ⚠
- p.Arg1272Cys Single submitter ⚠
- p.Arg1364Ile Single submitter ⚠
- p.Arg1369Cys Single submitter ⚠
- p.Arg1369Leu Single submitter ⚠
- p.Arg142Cys Single submitter ⚠
- p.Arg195Cys Single submitter ⚠
- p.Arg22Ser Single submitter ⚠
- p.Arg236Trp Single submitter ⚠
- p.Arg270Gly Single submitter ⚠
- p.Arg270Ser Single submitter ⚠
- p.Arg296Gln Single submitter ⚠
- p.Arg36Gly Single submitter ⚠
- p.Arg381Thr Single submitter ⚠
- p.Arg409Gln Single submitter ⚠
- p.Arg409Leu Single submitter ⚠
- p.Arg57Trp Single submitter ⚠
- p.Arg614Lys Single submitter ⚠
- p.Arg758Gln Single submitter ⚠
- p.Arg769Cys Single submitter ⚠
- p.Arg769His Single submitter ⚠
- p.Arg78Thr Single submitter ⚠
- p.Arg974Cys Single submitter ⚠
- p.Arg974His Single submitter ⚠
- p.Asn1064Ser Single submitter ⚠
- p.Asn1234Ser Single submitter ⚠
- p.Asn1329Asp Single submitter ⚠
- p.Asn268Ser Single submitter ⚠
- p.Asn615Ile Single submitter ⚠
- p.Asn620Asp Single submitter ⚠
- p.Asn636Lys Single submitter ⚠
- p.Asn636Tyr Single submitter ⚠
- p.Asn673Asp Single submitter ⚠
- p.Asn782His Single submitter ⚠
- p.Asn81Thr Single submitter ⚠
- p.Asp1317Glu Single submitter ⚠
- p.Asp164Gly Single submitter ⚠
- p.Asp167Gly Single submitter ⚠
- p.Asp262Val Single submitter ⚠
- p.Asp422Tyr Single submitter ⚠
- p.Asp514Asn Single submitter ⚠
- p.Asp570Asn Single submitter ⚠
- p.Asp645His Single submitter ⚠
- p.Asp969Ala Single submitter ⚠
- p.Cys1144Phe Single submitter ⚠
- p.Cys1149Arg Single submitter ⚠
- p.Cys1166Tyr Single submitter ⚠
- p.Cys1253Tyr Single submitter ⚠
- p.Cys502Arg Single submitter ⚠
- p.Cys508Tyr Single submitter ⚠
- p.Cys581Gly Single submitter ⚠
- p.Cys978Arg Single submitter ⚠
- p.Gln1173Arg Single submitter ⚠
- p.Gln127Leu Single submitter ⚠
- p.Gln1344Leu Single submitter ⚠
- p.Gln1351Glu Single submitter ⚠
- p.Gln17His Single submitter ⚠
- p.Gln324Arg Single submitter ⚠
- p.Gln389Arg Single submitter ⚠
- p.Gln507His Single submitter ⚠
- p.Gln541Lys Single submitter ⚠
- p.Gln67Arg Single submitter ⚠
- p.Gln67Glu Single submitter ⚠
- p.Gln74Glu Single submitter ⚠
- p.Glu1109Lys Single submitter ⚠
- p.Glu1116Lys Single submitter ⚠
- p.Glu210Lys Single submitter ⚠
- p.Glu225Lys Single submitter ⚠
- p.Glu260Gly Single submitter ⚠
- p.Glu337Ala Single submitter ⚠
- p.Glu65Val Single submitter ⚠
- p.Glu766Lys Single submitter ⚠
- p.Glu938Asp Single submitter ⚠
- p.Gly1347Ala Single submitter ⚠
- p.Gly19Arg Single submitter ⚠
- p.Gly251Ala Single submitter ⚠
- p.Gly266Asp Single submitter ⚠
- p.Gly375Arg Single submitter ⚠
- p.Gly402Val Single submitter ⚠
- p.Gly478Ser Single submitter ⚠
- p.Gly571Ser Single submitter ⚠
- p.Gly734Ser Single submitter ⚠
- p.Gly791Glu Single submitter ⚠
- p.Gly8Arg Single submitter congenital heart disease ⚠
- p.Gly934Cys Single submitter ⚠
- p.His1207Arg Single submitter ⚠
- p.His1207Tyr Single submitter ⚠
- p.His1302Tyr Single submitter ⚠
- p.His530Tyr Single submitter ⚠
- p.Ile1273Val Single submitter ⚠
- p.Ile152Val Single submitter ⚠
- p.Ile312Val Single submitter ⚠
- p.Ile433Thr Single submitter ⚠
- p.Ile433Val Single submitter ⚠
- p.Ile476Thr Single submitter ⚠
- p.Ile492Thr Single submitter ⚠
- p.Ile52Phe Single submitter ⚠
- p.Ile582Leu Single submitter ⚠
- p.Ile774Val Single submitter ⚠
- p.Ile868Val Single submitter ⚠
- p.Ile878Val Single submitter ⚠
- p.Ile899Thr Single submitter ⚠
- p.Ile909Val Single submitter ⚠
- p.Ile953Thr Single submitter ⚠
- p.Ile988Thr Single submitter ⚠
- p.Leu1110Pro Single submitter ⚠
- p.Leu1346Val Single submitter ⚠
- p.Leu160Val Single submitter ⚠
- p.Leu280Ser Single submitter ⚠
- p.Leu322Pro Single submitter ⚠
- p.Leu322Val Single submitter congenital heart disease ⚠
- p.Leu334Trp Single submitter ⚠
- p.Leu749Phe Single submitter ⚠
- p.Leu749Val Single submitter ⚠
- p.Lys1042Arg Single submitter ⚠
- p.Lys1065Glu Single submitter ⚠
- p.Lys1161Asn Single submitter ⚠
- p.Lys77Thr Single submitter ⚠
- p.Met1008Thr Single submitter ⚠
- p.Met1Ile Single submitter congenital heart disease
- p.Met481Leu Single submitter ⚠
- p.Met643Val Single submitter ⚠
- p.Met942Thr Single submitter ⚠
- p.Phe1129Leu Single submitter ⚠
- p.Phe303Leu Single submitter ⚠
- p.Phe408Tyr Single submitter ⚠
- p.Phe469Leu Single submitter ⚠
- p.Phe725Leu Single submitter ⚠
- p.Phe730Cys Single submitter ⚠
- p.Phe730Leu Single submitter ⚠
- p.Phe831Leu Single submitter ⚠
- p.Phe93Ile Single submitter ⚠
- p.Pro1016Leu Single submitter ⚠
- p.Pro1019Ser Single submitter ⚠
- p.Pro1172Ser Single submitter ⚠
- p.Pro1178Leu Single submitter ⚠
- p.Pro1252Leu Single submitter ⚠
- p.Pro1283Leu Single submitter ⚠
- p.Pro1332Ala Single submitter ⚠
- p.Pro38Leu Single submitter ⚠
- p.Pro429Leu Single submitter ⚠
- p.Pro627Leu Single submitter ⚠
- p.Pro933Ala Single submitter ⚠
- p.Ser1017Thr Single submitter ⚠
- p.Ser1145Leu Single submitter ⚠
- p.Ser1164Gly Single submitter ⚠
- p.Ser1254Arg Single submitter ⚠
- p.Ser1285Cys Single submitter ⚠
- p.Ser1320Asn Single submitter ⚠
- p.Ser1340Arg Single submitter ⚠
- p.Ser21Arg Single submitter ⚠
- p.Ser264Phe Single submitter ⚠
- p.Ser282Gly Single submitter ⚠
- p.Ser360Tyr Single submitter ⚠
- p.Ser823Gly Single submitter ⚠
- p.Ser883Asn Single submitter ⚠
- p.Thr1084Ile Single submitter ⚠
- p.Thr1189Ala Single submitter ⚠
- p.Thr1189Ser Single submitter ⚠
- p.Thr1223Ile Single submitter ⚠
- p.Thr1291Ile Single submitter ⚠
- p.Thr1335Ser Single submitter ⚠
- p.Thr1339Ala Single submitter ⚠
- p.Thr148Ser Single submitter congenital heart disease ⚠
- p.Thr176Ser Single submitter ⚠
- p.Thr201Ile Single submitter ⚠
- p.Thr246Ser Single submitter ⚠
- p.Thr326Pro Single submitter congenital heart disease ⚠
- p.Thr359Ala Single submitter ⚠
- p.Thr394Ile Single submitter ⚠
- p.Thr583Ala Single submitter ⚠
- p.Thr642Pro Single submitter ⚠
- p.Thr737Ala Single submitter ⚠
- p.Thr865Met Single submitter ⚠
- p.Thr89Ile Single submitter ⚠
- p.Tyr997Phe Single submitter ⚠
- p.Val1071Phe Single submitter ⚠
- p.Val1152Leu Single submitter ⚠
- p.Val1213Met Single submitter ⚠
- p.Val1264Leu Single submitter ⚠
- p.Val1305Ile Single submitter ⚠
- p.Val149Met Single submitter ⚠
- p.Val224Met Single submitter ⚠
- p.Val365Met Single submitter ⚠
- p.Val413Ala Single submitter ⚠
- p.Val434Ala Single submitter ⚠
- p.Val584Met Single submitter ⚠
- p.Val721Ile Single submitter ⚠
- p.Val796Ile Single submitter ⚠
- p.Val848Ala Single submitter ⚠
- p.Val918Met Single submitter ⚠
- p.Val996Ala Single submitter ⚠
- p.Val998Ala Single submitter ⚠