SCN7A — 270 ClinVar variants
All ClinVar germline SCN7A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 193 flagged for review →
1 Likely pathogenic · 1 Conflicting · 28 Benign · 1 Benign/Likely benign · 41 Likely benign · 198 Uncertain significance
Full SCN7A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 193
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 139
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SCN7A p.Val187Ile Uncertain significance Multiple submitters
- SCN7A p.Ala1156Val Uncertain significance Single submitter
- SCN7A p.Ala1313Ser Uncertain significance Single submitter
- SCN7A p.Ala1395Pro Uncertain significance Single submitter
- SCN7A p.Ala386Ser Uncertain significance Single submitter
- SCN7A p.Ala431Asp Uncertain significance Single submitter
- SCN7A p.Ala626Val Uncertain significance Single submitter
- SCN7A p.Arg1020Gln Uncertain significance Single submitter
- SCN7A p.Arg1020Trp Uncertain significance Single submitter
- SCN7A p.Arg1095Lys Uncertain significance Single submitter
- SCN7A p.Arg1106Trp Uncertain significance Single submitter
- SCN7A p.Arg1219His Uncertain significance Single submitter
- SCN7A p.Arg1219Leu Uncertain significance Single submitter
- SCN7A p.Arg1220Ser Uncertain significance Single submitter
- SCN7A p.Arg1358His Uncertain significance Single submitter
- SCN7A p.Arg290Gln Uncertain significance Single submitter
- SCN7A p.Arg348Pro Uncertain significance Single submitter
- SCN7A p.Arg903Cys Uncertain significance Single submitter
- SCN7A p.Asn1445Ser Uncertain significance Single submitter
- SCN7A p.Asn276Lys Uncertain significance Single submitter
- SCN7A p.Asn486Ser Uncertain significance Single submitter
- SCN7A p.Asn56Lys Uncertain significance Single submitter
- SCN7A p.Asn922Lys Uncertain significance Single submitter
- SCN7A p.Asn93Asp Uncertain significance Single submitter
- SCN7A p.Asn93Ser Uncertain significance Single submitter
- SCN7A p.Asp1465Asn Uncertain significance Single submitter
- SCN7A p.Asp1659Asn Uncertain significance Single submitter
- SCN7A p.Asp1659His Uncertain significance Single submitter
- SCN7A p.Asp447Asn Uncertain significance Single submitter
- SCN7A p.Asp859Gly Uncertain significance Single submitter
- SCN7A p.Cys1171Tyr Uncertain significance Single submitter
- SCN7A p.Cys233Gly Uncertain significance Single submitter
- SCN7A p.Cys734Arg Uncertain significance Single submitter
- SCN7A p.Gln1264His Uncertain significance Single submitter
- SCN7A p.Gln1278Pro Uncertain significance Single submitter
- SCN7A p.Gln402Arg Uncertain significance Single submitter
- SCN7A p.Gln824Lys Uncertain significance Single submitter
- SCN7A p.Glu1086Asp Uncertain significance Single submitter
- SCN7A p.Glu1297Gly Uncertain significance Single submitter
- SCN7A p.Glu1598Gln Uncertain significance Single submitter
- SCN7A p.Glu1625Val Uncertain significance Single submitter
- SCN7A p.Glu462Lys Uncertain significance Single submitter
- SCN7A p.Glu741Lys Uncertain significance Single submitter
- SCN7A p.Glu809Lys Uncertain significance Single submitter
- SCN7A p.Gly1076Val Uncertain significance Single submitter
- SCN7A p.Gly171Glu Uncertain significance Single submitter
- SCN7A p.Gly177Ser Uncertain significance Single submitter
- SCN7A p.Gly257Glu Uncertain significance Single submitter
- SCN7A p.Gly858Asp Uncertain significance Single submitter
- SCN7A p.Gly991Val Uncertain significance Single submitter
- SCN7A p.His280Asn Uncertain significance Single submitter
- SCN7A p.His672Gln Uncertain significance Single submitter
- SCN7A p.Ile107Val Uncertain significance Single submitter
- SCN7A p.Ile1147Val Uncertain significance Single submitter
- SCN7A p.Ile1167Met Uncertain significance Single submitter
- SCN7A p.Ile1189Val Uncertain significance Single submitter
- SCN7A p.Ile1192Val Uncertain significance Single submitter
- SCN7A p.Ile1210Met Uncertain significance Single submitter
- SCN7A p.Ile1281Phe Uncertain significance Single submitter
- SCN7A p.Ile1353Val Uncertain significance Single submitter
- SCN7A p.Ile1443Val Uncertain significance Single submitter
- SCN7A p.Ile1533Met Uncertain significance Single submitter
- SCN7A p.Ile194Met Uncertain significance Single submitter
- SCN7A p.Ile21Val Uncertain significance Single submitter
- SCN7A p.Ile411Phe Uncertain significance Single submitter
- SCN7A p.Ile434Val Uncertain significance Single submitter
- SCN7A p.Ile470Met Uncertain significance Single submitter
- SCN7A p.Ile515Val Uncertain significance Single submitter
- SCN7A p.Ile545Val Uncertain significance Single submitter
- SCN7A p.Ile571Val Uncertain significance Single submitter
- SCN7A p.Ile582Met Uncertain significance Single submitter
- SCN7A p.Ile660Val Uncertain significance Single submitter
- SCN7A p.Ile845Thr Uncertain significance Single submitter
- SCN7A p.Ile879Thr Uncertain significance Single submitter
- SCN7A p.Ile919Met Uncertain significance Single submitter
- SCN7A p.Ile966Asn Uncertain significance Single submitter
- SCN7A p.Ile980Val Uncertain significance Single submitter
- SCN7A p.Leu101Met Uncertain significance Single submitter
- SCN7A p.Leu10Ile Uncertain significance Single submitter
- SCN7A p.Leu1188Val Uncertain significance Single submitter
- SCN7A p.Leu1302Val Uncertain significance Single submitter
- SCN7A p.Leu1349Ile Uncertain significance Single submitter
- SCN7A p.Leu1579Phe Uncertain significance Single submitter
- SCN7A p.Leu1579Pro Uncertain significance Single submitter
- SCN7A p.Leu20His Uncertain significance Single submitter
- SCN7A p.Leu393Phe Uncertain significance Single submitter
- SCN7A p.Leu748Ile Uncertain significance Single submitter
- SCN7A p.Lys1213Ile Uncertain significance Single submitter
- SCN7A p.Lys1361Arg Uncertain significance Single submitter
- SCN7A p.Lys1508Thr Uncertain significance Single submitter
- SCN7A p.Lys1523Glu Uncertain significance Single submitter
- SCN7A p.Lys439Asn Uncertain significance Single submitter
- SCN7A p.Lys466Ile Uncertain significance Single submitter
- SCN7A p.Lys756Arg Uncertain significance Single submitter
- SCN7A p.Lys76Arg Uncertain significance Single submitter
- SCN7A p.Lys806Ile Uncertain significance Single submitter
- SCN7A p.Lys915Asn Uncertain significance Single submitter
- SCN7A p.Met1116Val Uncertain significance Single submitter
- SCN7A p.Met1269Leu Uncertain significance Single submitter
- SCN7A p.Met1374Ile Uncertain significance Single submitter
- SCN7A p.Met1551Val Uncertain significance Single submitter
- SCN7A p.Met1653Ile Uncertain significance Single submitter
- SCN7A p.Met438Val Uncertain significance Single submitter
- SCN7A p.Met711Leu Uncertain significance Single submitter
- SCN7A p.Met711Val Uncertain significance Single submitter
- SCN7A p.Phe1498Cys Uncertain significance Single submitter
- SCN7A p.Phe1518Cys Uncertain significance Single submitter
- SCN7A p.Pro1372Ala Uncertain significance Single submitter
- SCN7A p.Pro1372Ser Uncertain significance Single submitter
- SCN7A p.Pro489Ser Uncertain significance Single submitter
- SCN7A p.Pro830Thr Uncertain significance Single submitter
- SCN7A p.Ser1098Ala Uncertain significance Single submitter
- SCN7A p.Ser1186Asn Uncertain significance Single submitter
- SCN7A p.Ser1449Pro Uncertain significance Single submitter
- SCN7A p.Ser4Leu Uncertain significance Single submitter
- SCN7A p.Ser574Gly Uncertain significance Single submitter
- SCN7A p.Ser677Ala Uncertain significance Single submitter
- SCN7A p.Ser829Gly Uncertain significance Single submitter
- SCN7A p.Ser882Ala Uncertain significance Single submitter
- SCN7A p.Thr1091Ala Uncertain significance Single submitter
- SCN7A p.Thr1140Lys Uncertain significance Single submitter
- SCN7A p.Thr1272Asn Uncertain significance Single submitter
- SCN7A p.Thr1460Ser Uncertain significance Single submitter
- SCN7A p.Thr1509Ala Uncertain significance Single submitter
- SCN7A p.Thr1618Ser Uncertain significance Single submitter
- SCN7A p.Thr770Ala Uncertain significance Single submitter
- SCN7A p.Thr950Ser Uncertain significance Single submitter
- SCN7A p.Trp694Arg Uncertain significance Single submitter
- SCN7A p.Tyr1338His Uncertain significance Single submitter
- SCN7A p.Tyr1636Asp Uncertain significance Single submitter
- SCN7A p.Tyr287Cys Uncertain significance Single submitter
- SCN7A p.Tyr296Asp Uncertain significance Single submitter
- SCN7A p.Tyr476His Uncertain significance Single submitter
- SCN7A p.Val1007Ile Uncertain significance Single submitter
- SCN7A p.Val1365Met Uncertain significance Single submitter
- SCN7A p.Val404Asp Uncertain significance Single submitter
- SCN7A p.Val519Leu Uncertain significance Single submitter
- SCN7A p.Val69Ala Uncertain significance Single submitter
- SCN7A p.Val1008Phe Uncertain significance No assertion criteria
Predictors split 54
The independent predictors disagree with each other — read with care.
- SCN7A p.Arg683Gln Benign Multiple submitters
- SCN7A p.Ile956Thr Likely benign Multiple submitters
- SCN7A p.Tyr562Cys Benign Multiple submitters
- SCN7A p.Ala1267Asp Uncertain significance Single submitter
- SCN7A p.Ala165Val Uncertain significance Single submitter
- SCN7A p.Ala26Pro Uncertain significance Single submitter
- SCN7A p.Arg1306His Likely benign Single submitter
- SCN7A p.Arg1584Ser Uncertain significance Single submitter
- SCN7A p.Arg1622Gln Likely benign Single submitter
- SCN7A p.Arg348Gln Uncertain significance Single submitter
- SCN7A p.Arg668His Uncertain significance Single submitter
- SCN7A p.Asn1120Ser Uncertain significance Single submitter
- SCN7A p.Asn1457Lys Uncertain significance Single submitter
- SCN7A p.Asn1555Lys Uncertain significance Single submitter
- SCN7A p.Asp1246Gly Uncertain significance Single submitter
- SCN7A p.Asp1413Asn Uncertain significance Single submitter
- SCN7A p.Asp1413Tyr Uncertain significance Single submitter
- SCN7A p.Asp1540Tyr Uncertain significance Single submitter
- SCN7A p.Asp972His Uncertain significance Single submitter
- SCN7A p.Gly1421Asp Uncertain significance Single submitter
- SCN7A p.Gly1435Asp Uncertain significance Single submitter
- SCN7A p.Gly1435Val Uncertain significance Single submitter
- SCN7A p.Gly177Asp Uncertain significance Single submitter
- SCN7A p.Gly758Glu Uncertain significance Single submitter
- SCN7A p.Ile1074Asn Uncertain significance Single submitter
- SCN7A p.Leu230Val Uncertain significance Single submitter
- SCN7A p.Leu494Ser Uncertain significance Single submitter
- SCN7A p.Leu945Val Uncertain significance Single submitter
- SCN7A p.Lys1621Ile Uncertain significance Single submitter
- SCN7A p.Lys324Asn Uncertain significance Single submitter
- SCN7A p.Lys368Thr Uncertain significance Single submitter
- SCN7A p.Lys765Glu Uncertain significance Single submitter
- SCN7A p.Met1439Thr Uncertain significance Single submitter
- SCN7A p.Met260Ile Uncertain significance Single submitter
- SCN7A p.Met350Thr Uncertain significance Single submitter
- SCN7A p.Met552Val Uncertain significance Single submitter
- SCN7A p.Met559Val Uncertain significance Single submitter
- SCN7A p.Met671Val Uncertain significance Single submitter
- SCN7A p.Phe1031Leu Uncertain significance Single submitter
- SCN7A p.Phe1141Leu Uncertain significance Single submitter
- SCN7A p.Phe1182Tyr Uncertain significance Single submitter
- SCN7A p.Pro1234Thr Uncertain significance Single submitter
- SCN7A p.Pro505Thr Uncertain significance Single submitter
- SCN7A p.Pro51Thr Uncertain significance Single submitter
- SCN7A p.Pro71Arg Uncertain significance Single submitter
- SCN7A p.Thr1419Ser Uncertain significance Single submitter
- SCN7A p.Thr1612Pro Uncertain significance Single submitter
- SCN7A p.Thr1619Ile Uncertain significance Single submitter
- SCN7A p.Thr79Asn Uncertain significance Single submitter
- SCN7A p.Trp1314Ser Uncertain significance Single submitter
- SCN7A p.Trp180Arg Uncertain significance Single submitter
- SCN7A p.Tyr359His Uncertain significance Single submitter
- SCN7A p.Tyr990Asn Uncertain significance Single submitter
-
SCN7A p.Arg1358Cys
Likely benign
No assertion criteria
SCN7A-related disorder
All SCN7A variants
Likely pathogenic 1
- p.Arg596Ter No assertion criteria
Conflicting classifications of pathogenicity 1
- p.Trp1285Cys Single submitter
Benign 28
- c.3028-9A>T Multiple submitters
- p.Ala1282Val Multiple submitters
- p.Arg683Gln Multiple submitters ⚠
- p.Gly904Arg Multiple submitters
- p.Ile513Met Multiple submitters
- p.Leu648= Multiple submitters
- p.Lys735Arg Multiple submitters
- p.Met600Leu Multiple submitters
- p.Phe1245= Multiple submitters
- p.Tyr562Cys Multiple submitters ⚠
- p.Val133Ile Multiple submitters
- c.3027+7A>G Single submitter
- c.3712-2A>G Single submitter
- p.Asn1113= Single submitter
- p.Asn899fs Single submitter
- p.Thr1630= Single submitter
- p.Val1414= Single submitter
- p.Val657Ala Single submitter
- c.*2A>C No assertion criteria SCN7A-related disorder
- p.Ala1139= No assertion criteria SCN7A-related disorder
- p.Asp1271= No assertion criteria SCN7A-related disorder
- p.Asp1657Gly No assertion criteria SCN7A-related disorder
- p.Gln236Pro No assertion criteria SCN7A-related disorder
- p.Ile407Val No assertion criteria SCN7A-related disorder
- p.Met958Ile No assertion criteria SCN7A-related disorder
- p.Thr41Asn No assertion criteria SCN7A-related disorder
- p.Tyr1400= No assertion criteria SCN7A-related disorder
- p.Val1596Leu No assertion criteria SCN7A-related disorder
Benign/Likely benign 1
- p.Ala1313= Multiple submitters
Likely benign 41
- p.Ala456Gly Multiple submitters
- p.Ala818Ser Multiple submitters
- p.Arg1106Gln Multiple submitters
- p.Arg1516Lys Multiple submitters
- p.Asp803Val Multiple submitters
- p.Ile956Thr Multiple submitters ⚠
- p.Phe644= Multiple submitters
- p.Ala1403= Single submitter
- p.Arg1306His Single submitter ⚠
- p.Arg1622Gln Single submitter ⚠
- p.Arg1622Ter Single submitter
- p.Arg1643Gln Single submitter
- p.Arg903His Single submitter
- p.Asn105Ser Single submitter
- p.Asn934= Single submitter
- p.Asp1645Tyr Single submitter
- p.Cys585Tyr Single submitter
- p.Gln614Lys Single submitter
- p.Gln665= Single submitter
- p.Gln854= Single submitter
- p.Gly1076= Single submitter
- p.Gly949Ser Single submitter
- p.Ile1299Val Single submitter
- p.Leu176= Single submitter
- p.Leu595Phe Single submitter
- p.Leu627= Single submitter
- p.Lys1364= Single submitter
- p.Lys1508= Single submitter
- p.Lys466= Single submitter
- p.Lys493= Single submitter
- p.Met1123Leu Single submitter
- p.Phe120= Single submitter
- p.Phe979= Single submitter
- p.Ser186= Single submitter
- p.Ser811Gly Single submitter
- p.Thr418= Single submitter
- p.Val1396Ile Single submitter
- p.Val357Ile Single submitter
- p.Val377Ile Single submitter
- p.Arg1358Cys No assertion criteria SCN7A-related disorder ⚠
- p.Ser1503Phe No assertion criteria SCN7A-related disorder
Uncertain significance 198
- p.Val187Ile Multiple submitters ⚠
- p.Ala1156Val Single submitter ⚠
- p.Ala1267Asp Single submitter ⚠
- p.Ala1313Ser Single submitter ⚠
- p.Ala1395Pro Single submitter ⚠
- p.Ala165Val Single submitter ⚠
- p.Ala26Pro Single submitter ⚠
- p.Ala386Ser Single submitter ⚠
- p.Ala431Asp Single submitter ⚠
- p.Ala626Val Single submitter ⚠
- p.Arg1020Gln Single submitter ⚠
- p.Arg1020Trp Single submitter ⚠
- p.Arg1095Lys Single submitter ⚠
- p.Arg1106Trp Single submitter ⚠
- p.Arg1219His Single submitter ⚠
- p.Arg1219Leu Single submitter ⚠
- p.Arg1220Ser Single submitter ⚠
- p.Arg1358His Single submitter ⚠
- p.Arg1584Ser Single submitter ⚠
- p.Arg290Gln Single submitter ⚠
- p.Arg348Gln Single submitter ⚠
- p.Arg348Pro Single submitter ⚠
- p.Arg668His Single submitter ⚠
- p.Arg903Cys Single submitter ⚠
- p.Asn1120Ser Single submitter ⚠
- p.Asn1445Ser Single submitter ⚠
- p.Asn1457Lys Single submitter ⚠
- p.Asn1555Lys Single submitter ⚠
- p.Asn276Lys Single submitter ⚠
- p.Asn486Ser Single submitter ⚠
- p.Asn56Lys Single submitter ⚠
- p.Asn922Lys Single submitter ⚠
- p.Asn93Asp Single submitter ⚠
- p.Asn93Ser Single submitter ⚠
- p.Asp1246Gly Single submitter ⚠
- p.Asp1413Asn Single submitter ⚠
- p.Asp1413Tyr Single submitter ⚠
- p.Asp1465Asn Single submitter ⚠
- p.Asp1540Tyr Single submitter ⚠
- p.Asp1659Asn Single submitter ⚠
- p.Asp1659His Single submitter ⚠
- p.Asp447Asn Single submitter ⚠
- p.Asp859Gly Single submitter ⚠
- p.Asp972His Single submitter ⚠
- p.Cys1171Tyr Single submitter ⚠
- p.Cys233Gly Single submitter ⚠
- p.Cys520Arg Single submitter
- p.Cys734Arg Single submitter ⚠
- p.Gln1264His Single submitter ⚠
- p.Gln1278Pro Single submitter ⚠
- p.Gln402Arg Single submitter ⚠
- p.Gln802Ter Single submitter
- p.Gln824Lys Single submitter ⚠
- p.Glu1086Asp Single submitter ⚠
- p.Glu1297Gly Single submitter ⚠
- p.Glu1598Gln Single submitter ⚠
- p.Glu1600Asp Single submitter
- p.Glu1625Val Single submitter ⚠
- p.Glu462Lys Single submitter ⚠
- p.Glu741Lys Single submitter ⚠
- p.Glu809Lys Single submitter ⚠
- p.Gly1076Val Single submitter ⚠
- p.Gly1421Asp Single submitter ⚠
- p.Gly1435Asp Single submitter ⚠
- p.Gly1435Val Single submitter ⚠
- p.Gly171Glu Single submitter ⚠
- p.Gly177Asp Single submitter ⚠
- p.Gly177Ser Single submitter ⚠
- p.Gly257Glu Single submitter ⚠
- p.Gly758Glu Single submitter ⚠
- p.Gly858Asp Single submitter ⚠
- p.Gly991Val Single submitter ⚠
- p.His280Asn Single submitter ⚠
- p.His672Gln Single submitter ⚠
- p.Ile1074Asn Single submitter ⚠
- p.Ile107Val Single submitter ⚠
- p.Ile1147Val Single submitter ⚠
- p.Ile1167Met Single submitter ⚠
- p.Ile1189Val Single submitter ⚠
- p.Ile1192Val Single submitter ⚠
- p.Ile1210Met Single submitter ⚠
- p.Ile1281Phe Single submitter ⚠
- p.Ile1353Val Single submitter ⚠
- p.Ile1443Val Single submitter ⚠
- p.Ile1533Met Single submitter ⚠
- p.Ile159Thr Single submitter
- p.Ile194Met Single submitter ⚠
- p.Ile21Val Single submitter ⚠
- p.Ile411Phe Single submitter ⚠
- p.Ile434Val Single submitter ⚠
- p.Ile470Met Single submitter ⚠
- p.Ile515Val Single submitter ⚠
- p.Ile545Val Single submitter ⚠
- p.Ile571Val Single submitter ⚠
- p.Ile582Met Single submitter ⚠
- p.Ile660Val Single submitter ⚠
- p.Ile845Thr Single submitter ⚠
- p.Ile879Thr Single submitter ⚠
- p.Ile919Met Single submitter ⚠
- p.Ile966Asn Single submitter ⚠
- p.Ile980Val Single submitter ⚠
- p.Leu101Met Single submitter ⚠
- p.Leu10Ile Single submitter ⚠
- p.Leu1188Val Single submitter ⚠
- p.Leu1302Val Single submitter ⚠
- p.Leu1349Ile Single submitter ⚠
- p.Leu1579Phe Single submitter ⚠
- p.Leu1579Pro Single submitter ⚠
- p.Leu20His Single submitter ⚠
- p.Leu20Pro Single submitter
- p.Leu230Val Single submitter ⚠
- p.Leu393Phe Single submitter ⚠
- p.Leu494Ser Single submitter ⚠
- p.Leu748Ile Single submitter ⚠
- p.Leu945Val Single submitter ⚠
- p.Lys1213Ile Single submitter ⚠
- p.Lys1361Arg Single submitter ⚠
- p.Lys1508Thr Single submitter ⚠
- p.Lys1523Glu Single submitter ⚠
- p.Lys1621Ile Single submitter ⚠
- p.Lys324Asn Single submitter ⚠
- p.Lys368Thr Single submitter ⚠
- p.Lys439Asn Single submitter ⚠
- p.Lys466Ile Single submitter ⚠
- p.Lys756Arg Single submitter ⚠
- p.Lys765Glu Single submitter ⚠
- p.Lys76Arg Single submitter ⚠
- p.Lys806Ile Single submitter ⚠
- p.Lys85Ter Single submitter
- p.Lys915Asn Single submitter ⚠
- p.Met1116Val Single submitter ⚠
- p.Met1269Leu Single submitter ⚠
- p.Met1374Ile Single submitter ⚠
- p.Met1439Thr Single submitter ⚠
- p.Met1551Val Single submitter ⚠
- p.Met1653Ile Single submitter ⚠
- p.Met260Ile Single submitter ⚠
- p.Met350Thr Single submitter ⚠
- p.Met438Thr Single submitter
- p.Met438Val Single submitter ⚠
- p.Met552Val Single submitter ⚠
- p.Met559Val Single submitter ⚠
- p.Met671Val Single submitter ⚠
- p.Met711Leu Single submitter ⚠
- p.Met711Val Single submitter ⚠
- p.Phe1031Leu Single submitter ⚠
- p.Phe1141Leu Single submitter ⚠
- p.Phe1182Tyr Single submitter ⚠
- p.Phe1498Cys Single submitter ⚠
- p.Phe1518Cys Single submitter ⚠
- p.Pro1234Thr Single submitter ⚠
- p.Pro1372Ala Single submitter ⚠
- p.Pro1372Ser Single submitter ⚠
- p.Pro489Ser Single submitter ⚠
- p.Pro505Thr Single submitter ⚠
- p.Pro51Thr Single submitter ⚠
- p.Pro71Arg Single submitter ⚠
- p.Pro830Thr Single submitter ⚠
- p.Ser1098Ala Single submitter ⚠
- p.Ser1186Asn Single submitter ⚠
- p.Ser1449Pro Single submitter ⚠
- p.Ser4Leu Single submitter ⚠
- p.Ser574Gly Single submitter ⚠
- p.Ser677Ala Single submitter ⚠
- p.Ser799Arg Single submitter
- p.Ser829Gly Single submitter ⚠
- p.Ser882Ala Single submitter ⚠
- p.Thr1091Ala Single submitter ⚠
- p.Thr1140Lys Single submitter ⚠
- p.Thr1272Asn Single submitter ⚠
- p.Thr1419Ser Single submitter ⚠
- p.Thr1460Ser Single submitter ⚠
- p.Thr1509Ala Single submitter ⚠
- p.Thr1612Pro Single submitter ⚠
- p.Thr1618Asn Single submitter
- p.Thr1618Ser Single submitter ⚠
- p.Thr1619Ile Single submitter ⚠
- p.Thr188fs Single submitter
- p.Thr770Ala Single submitter ⚠
- p.Thr79Asn Single submitter ⚠
- p.Thr950Ser Single submitter ⚠
- p.Trp1314Ser Single submitter ⚠
- p.Trp180Arg Single submitter ⚠
- p.Trp694Arg Single submitter ⚠
- p.Tyr1226fs Single submitter
- p.Tyr1338His Single submitter ⚠
- p.Tyr1636Asp Single submitter ⚠
- p.Tyr287Cys Single submitter ⚠
- p.Tyr296Asp Single submitter ⚠
- p.Tyr359His Single submitter ⚠
- p.Tyr476His Single submitter ⚠
- p.Tyr990Asn Single submitter ⚠
- p.Val1007Ile Single submitter ⚠
- p.Val1365Met Single submitter ⚠
- p.Val404Asp Single submitter ⚠
- p.Val519Leu Single submitter ⚠
- p.Val69Ala Single submitter ⚠
- p.Val1008Phe No assertion criteria ⚠