ESPL1 — 236 ClinVar variants
All ClinVar germline ESPL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 197 flagged for review →
10 Benign · 32 Likely benign · 194 Uncertain significance
Full ESPL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 197
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 132
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ESPL1 p.Ala1110Ser Uncertain significance Single submitter
- ESPL1 p.Ala1152Thr Uncertain significance Single submitter
- ESPL1 p.Ala1158Thr Uncertain significance Single submitter
- ESPL1 p.Ala1356Thr Uncertain significance Single submitter
- ESPL1 p.Ala1428Gly Uncertain significance Single submitter
- ESPL1 p.Ala1526Val Uncertain significance Single submitter
- ESPL1 p.Ala1568Thr Uncertain significance Single submitter
- ESPL1 p.Ala1643Val Uncertain significance Single submitter
- ESPL1 p.Ala2043Thr Uncertain significance Single submitter
- ESPL1 p.Ala582Gly Uncertain significance Single submitter
- ESPL1 p.Ala594Val Uncertain significance Single submitter
- ESPL1 p.Ala66Val Uncertain significance Single submitter
- ESPL1 p.Ala703Gly Uncertain significance Single submitter
- ESPL1 p.Arg1041Gly Uncertain significance Single submitter
- ESPL1 p.Arg1041Leu Uncertain significance Single submitter
- ESPL1 p.Arg1257Gly Uncertain significance Single submitter
- ESPL1 p.Arg1352Gln Uncertain significance Single submitter
- ESPL1 p.Arg1418Gln Uncertain significance Single submitter
- ESPL1 p.Arg1423Gln Uncertain significance Single submitter
- ESPL1 p.Arg1456Gln Uncertain significance Single submitter
- ESPL1 p.Arg1456Gly Uncertain significance Single submitter
- ESPL1 p.Arg145Gln Uncertain significance Single submitter
- ESPL1 p.Arg1602Cys Uncertain significance Single submitter
- ESPL1 p.Arg1672His Uncertain significance Single submitter
- ESPL1 p.Arg1751His Uncertain significance Single submitter
- ESPL1 p.Arg1774Gln Uncertain significance Single submitter
- ESPL1 p.Arg1780Trp Uncertain significance Single submitter
- ESPL1 p.Arg1786Ser Uncertain significance Single submitter
- ESPL1 p.Arg1836Cys Uncertain significance Single submitter
- ESPL1 p.Arg1922His Uncertain significance Single submitter
- ESPL1 p.Arg2067His Uncertain significance Single submitter
- ESPL1 p.Arg2071Cys Uncertain significance Single submitter
- ESPL1 p.Arg283Gly Uncertain significance Single submitter
- ESPL1 p.Arg349Gln Uncertain significance Single submitter
- ESPL1 p.Arg596Leu Uncertain significance Single submitter
- ESPL1 p.Arg603Cys Uncertain significance Single submitter
- ESPL1 p.Arg864Gln Uncertain significance Single submitter
- ESPL1 p.Arg947Gln Uncertain significance Single submitter
- ESPL1 p.Asn1240Ser Uncertain significance Single submitter
- ESPL1 p.Asn1888Asp Uncertain significance Single submitter
- ESPL1 p.Asn605Ser Uncertain significance Single submitter
- ESPL1 p.Asn736Ser Uncertain significance Single submitter
- ESPL1 p.Asn917Ser Uncertain significance Single submitter
- ESPL1 p.Cys1466Trp Uncertain significance Single submitter
- ESPL1 p.Gln1084Lys Uncertain significance Single submitter
- ESPL1 p.Gln1179Glu Uncertain significance Single submitter
- ESPL1 p.Gln1355Glu Uncertain significance Single submitter
- ESPL1 p.Gln1472His Uncertain significance Single submitter
- ESPL1 p.Gln1855Glu Uncertain significance Single submitter
- ESPL1 p.Gln1989Lys Uncertain significance Single submitter
- ESPL1 p.Gln390Arg Uncertain significance Single submitter
- ESPL1 p.Gln59Glu Uncertain significance Single submitter
- ESPL1 p.Gln694Arg Uncertain significance Single submitter
- ESPL1 p.Gln724Glu Uncertain significance Single submitter
- ESPL1 p.Glu1063Gly Uncertain significance Single submitter
- ESPL1 p.Glu1097Lys Uncertain significance Single submitter
- ESPL1 p.Glu1115Asp Uncertain significance Single submitter
- ESPL1 p.Glu134Gly Uncertain significance Single submitter
- ESPL1 p.Glu305Lys Uncertain significance Single submitter
- ESPL1 p.Glu338Ala Uncertain significance Single submitter
- ESPL1 p.Glu475Gln Uncertain significance Single submitter
- ESPL1 p.Glu497Lys Uncertain significance Single submitter
- ESPL1 p.Glu616Lys Uncertain significance Single submitter
- ESPL1 p.Glu617Asp Uncertain significance Single submitter
- ESPL1 p.Glu698Lys Uncertain significance Single submitter
- ESPL1 p.Glu710Gly Uncertain significance Single submitter
- ESPL1 p.Glu725Lys Uncertain significance Single submitter
- ESPL1 p.Glu76Asp Uncertain significance Single submitter
- ESPL1 p.Gly1103Ser Uncertain significance Single submitter
- ESPL1 p.Gly1180Ala Uncertain significance Single submitter
- ESPL1 p.Gly1337Arg Uncertain significance Single submitter
- ESPL1 p.Gly1340Ser Uncertain significance Single submitter
- ESPL1 p.Gly1481Ala Uncertain significance Single submitter
- ESPL1 p.Gly1779Ala Uncertain significance Single submitter
- ESPL1 p.Gly237Arg Uncertain significance Single submitter
- ESPL1 p.Gly350Asp Uncertain significance Single submitter
- ESPL1 p.Gly368Glu Uncertain significance Single submitter
- ESPL1 p.His1260Tyr Uncertain significance Single submitter
- ESPL1 p.His1599Gln Uncertain significance Single submitter
- ESPL1 p.His818Tyr Uncertain significance Single submitter
- ESPL1 p.Ile1258Met Uncertain significance Single submitter
- ESPL1 p.Ile1626Val Uncertain significance Single submitter
- ESPL1 p.Ile2106Thr Uncertain significance Single submitter
- ESPL1 p.Ile417Thr Uncertain significance Single submitter
- ESPL1 p.Leu1106Val Uncertain significance Single submitter
- ESPL1 p.Leu1600Ile Uncertain significance Single submitter
- ESPL1 p.Leu1676Phe Uncertain significance Single submitter
- ESPL1 p.Leu1748Arg Uncertain significance Single submitter
- ESPL1 p.Leu1952Pro Uncertain significance Single submitter
- ESPL1 p.Leu224Phe Uncertain significance Single submitter
- ESPL1 p.Leu242Arg Uncertain significance Single submitter
- ESPL1 p.Leu796Phe Uncertain significance Single submitter
- ESPL1 p.Leu80Val Uncertain significance Single submitter
- ESPL1 p.Lys1309Glu Uncertain significance Single submitter
- ESPL1 p.Lys1499Arg Uncertain significance Single submitter
- ESPL1 p.Lys1931Arg Uncertain significance Single submitter
- ESPL1 p.Lys431Gln Uncertain significance Single submitter
- ESPL1 p.Lys525Arg Uncertain significance Single submitter
- ESPL1 p.Met453Val Uncertain significance Single submitter
- ESPL1 p.Met526Thr Uncertain significance Single submitter
- ESPL1 p.Met554Thr Uncertain significance Single submitter
- ESPL1 p.Phe1288Tyr Uncertain significance Single submitter
- ESPL1 p.Pro1089Ser Uncertain significance Single submitter
- ESPL1 p.Pro1104Ser Uncertain significance Single submitter
- ESPL1 p.Pro1144Leu Uncertain significance Single submitter
- ESPL1 p.Pro1211Thr Uncertain significance Single submitter
- ESPL1 p.Pro1349Ser Uncertain significance Single submitter
- ESPL1 p.Pro1370Arg Uncertain significance Single submitter
- ESPL1 p.Pro1471Thr Uncertain significance Single submitter
- ESPL1 p.Pro1520Ala Uncertain significance Single submitter
- ESPL1 p.Pro1522Leu Uncertain significance Single submitter
- ESPL1 p.Pro329Ala Uncertain significance Single submitter
- ESPL1 p.Pro332Leu Uncertain significance Single submitter
- ESPL1 p.Ser1060Pro Uncertain significance Single submitter
- ESPL1 p.Ser1141Ala Uncertain significance Single submitter
- ESPL1 p.Ser1267Asn Uncertain significance Single submitter
- ESPL1 p.Ser1515Leu Uncertain significance Single submitter
- ESPL1 p.Ser1797Ala Uncertain significance Single submitter
- ESPL1 p.Ser1887Thr Uncertain significance Single submitter
- ESPL1 p.Ser192Cys Uncertain significance Single submitter
- ESPL1 p.Ser956Asn Uncertain significance Single submitter
- ESPL1 p.Thr1157Arg Uncertain significance Single submitter
- ESPL1 p.Thr433Ala Uncertain significance Single submitter
- ESPL1 p.Thr89Ala Uncertain significance Single submitter
- ESPL1 p.Tyr355Cys Uncertain significance Single submitter
- ESPL1 p.Tyr831Phe Uncertain significance Single submitter
- ESPL1 p.Val1170Leu Uncertain significance Single submitter
- ESPL1 p.Val129Met Uncertain significance Single submitter
- ESPL1 p.Val1383Leu Uncertain significance Single submitter
- ESPL1 p.Val1461Gly Uncertain significance Single submitter
- ESPL1 p.Val1721Met Uncertain significance Single submitter
- ESPL1 p.Val2015Leu Uncertain significance Single submitter
Predictors split 65
The independent predictors disagree with each other — read with care.
- ESPL1 p.Thr2073Met Likely benign Multiple submitters
- ESPL1 p.Ala1178Pro Uncertain significance Single submitter
- ESPL1 p.Ala166Val Uncertain significance Single submitter
- ESPL1 p.Ala1782Val Uncertain significance Single submitter
- ESPL1 p.Ala1869Val Uncertain significance Single submitter
- ESPL1 p.Ala2032Val Uncertain significance Single submitter
- ESPL1 p.Ala559Val Uncertain significance Single submitter
- ESPL1 p.Ala742Val Uncertain significance Single submitter
- ESPL1 p.Arg1320His Uncertain significance Single submitter
- ESPL1 p.Arg133Leu Uncertain significance Single submitter
- ESPL1 p.Arg1352Trp Uncertain significance Single submitter
- ESPL1 p.Arg1390His Uncertain significance Single submitter
- ESPL1 p.Arg1470Cys Uncertain significance Single submitter
- ESPL1 p.Arg1470His Uncertain significance Single submitter
- ESPL1 p.Arg1629His Uncertain significance Single submitter
- ESPL1 p.Arg266Cys Likely benign Single submitter
- ESPL1 p.Arg701Trp Uncertain significance Single submitter
- ESPL1 p.Asp1555His Uncertain significance Single submitter
- ESPL1 p.Asp1733Tyr Uncertain significance Single submitter
- ESPL1 p.Gln762His Uncertain significance Single submitter
- ESPL1 p.Glu1663Lys Uncertain significance Single submitter
- ESPL1 p.Glu1871Asp Uncertain significance Single submitter
- ESPL1 p.Glu21Gly Uncertain significance Single submitter
- ESPL1 p.Glu475Asp Uncertain significance Single submitter
- ESPL1 p.Gly1719Arg Uncertain significance Single submitter
- ESPL1 p.Gly1800Ala Uncertain significance Single submitter
- ESPL1 p.Gly1860Arg Uncertain significance Single submitter
- ESPL1 p.Gly2079Ala Uncertain significance Single submitter
- ESPL1 p.Gly443Cys Uncertain significance Single submitter
- ESPL1 p.Gly575Val Uncertain significance Single submitter
- ESPL1 p.Gly761Val Uncertain significance Single submitter
- ESPL1 p.His268Asn Uncertain significance Single submitter
- ESPL1 p.Leu1214Phe Uncertain significance Single submitter
- ESPL1 p.Leu158Arg Uncertain significance Single submitter
- ESPL1 p.Leu314Phe Uncertain significance Single submitter
- ESPL1 p.Leu357Pro Likely benign Single submitter
- ESPL1 p.Leu517Gln Uncertain significance Single submitter
- ESPL1 p.Leu583His Uncertain significance Single submitter
- ESPL1 p.Lys1081Asn Uncertain significance Single submitter
- ESPL1 p.Lys1130Asn Uncertain significance Single submitter
- ESPL1 p.Pro1669His Uncertain significance Single submitter
- ESPL1 p.Pro1815Leu Uncertain significance Single submitter
- ESPL1 p.Pro245His Uncertain significance Single submitter
- ESPL1 p.Pro245Ser Uncertain significance Single submitter
- ESPL1 p.Ser1422Phe Uncertain significance Single submitter
- ESPL1 p.Ser1475Asn Uncertain significance Single submitter
- ESPL1 p.Ser15Ile Uncertain significance Single submitter
- ESPL1 p.Ser1769Ile Uncertain significance Single submitter
- ESPL1 p.Ser1793Cys Uncertain significance Single submitter
- ESPL1 p.Ser1810Asn Uncertain significance Single submitter
- ESPL1 p.Ser1970Arg Uncertain significance Single submitter
- ESPL1 p.Ser319Leu Uncertain significance Single submitter
- ESPL1 p.Ser387Phe Uncertain significance Single submitter
- ESPL1 p.Ser39Asn Uncertain significance Single submitter
- ESPL1 p.Ser865Asn Uncertain significance Single submitter
- ESPL1 p.Thr1436Met Uncertain significance Single submitter
- ESPL1 p.Thr1837Pro Uncertain significance Single submitter
- ESPL1 p.Tyr2104Asn Uncertain significance Single submitter
- ESPL1 p.Tyr473His Uncertain significance Single submitter
- ESPL1 p.Val103Asp Uncertain significance Single submitter
- ESPL1 p.Val1187Met Uncertain significance Single submitter
- ESPL1 p.Val1789Ile Uncertain significance Single submitter
- ESPL1 p.Val1798Met Uncertain significance Single submitter
- ESPL1 p.Val635Ala Uncertain significance Single submitter
-
ESPL1 p.Ala116Val
Benign
No assertion criteria
ESPL1-related disorder
All ESPL1 variants
Benign 10
- c.6162-10C>T Multiple submitters
- p.Ala1462Thr Multiple submitters
- p.Asn918Ser Multiple submitters
- p.Gly1337Val Multiple submitters
- p.Ile1488Asn Multiple submitters
- p.Ser969= Multiple submitters
- p.Arg1479Gly Single submitter
- p.Arg596Gln Single submitter
- p.Ala116Val No assertion criteria ESPL1-related disorder ⚠
- p.His1078Asn No assertion criteria ESPL1-related disorder
Likely benign 32
- p.Thr2073Met Multiple submitters ⚠
- p.Ala1848Thr Single submitter
- p.Arg1559Gln Single submitter
- p.Arg266Cys Single submitter ⚠
- p.Arg654Gln Single submitter
- p.Asp598Asn Single submitter
- p.Gln447Arg Single submitter
- p.Gly237Glu Single submitter
- p.Ile1854Val Single submitter
- p.Ile2111Val Single submitter
- p.Leu1247= Single submitter
- p.Leu357Pro Single submitter ⚠
- p.Pro1092Ser Single submitter
- p.Ser1552Arg Single submitter
- p.Ser538Gly Single submitter
- p.Thr1864Ala Single submitter
- p.Tyr868Cys Single submitter
- p.Val1583Ile Single submitter
- p.Val303Ala Single submitter
- c.6161+7C>T No assertion criteria ESPL1-related disorder
- p.Ala1438= No assertion criteria ESPL1-related disorder
- p.Arg1318Gln No assertion criteria ESPL1-related disorder
- p.Asn1723= No assertion criteria ESPL1-related disorder
- p.Asp1351= No assertion criteria ESPL1-related disorder
- p.Gly1510Arg No assertion criteria ESPL1-related disorder
- p.Leu1150= No assertion criteria ESPL1-related disorder
- p.Leu1298= No assertion criteria ESPL1-related disorder
- p.Phe9= No assertion criteria ESPL1-related disorder
- p.Pro1813= No assertion criteria ESPL1-related disorder
- p.Ser39= No assertion criteria ESPL1-related disorder
- p.Thr433= No assertion criteria ESPL1-related disorder
- p.Val1088= No assertion criteria ESPL1-related disorder
Uncertain significance 194
- p.Ala1110Ser Single submitter ⚠
- p.Ala1152Thr Single submitter ⚠
- p.Ala1158Thr Single submitter ⚠
- p.Ala1178Pro Single submitter ⚠
- p.Ala1356Thr Single submitter ⚠
- p.Ala1428Gly Single submitter ⚠
- p.Ala1526Val Single submitter ⚠
- p.Ala1568Thr Single submitter ⚠
- p.Ala1643Val Single submitter ⚠
- p.Ala166Val Single submitter ⚠
- p.Ala1782Val Single submitter ⚠
- p.Ala1869Val Single submitter ⚠
- p.Ala2032Val Single submitter ⚠
- p.Ala2043Thr Single submitter ⚠
- p.Ala559Val Single submitter ⚠
- p.Ala582Gly Single submitter ⚠
- p.Ala594Val Single submitter ⚠
- p.Ala66Val Single submitter ⚠
- p.Ala703Gly Single submitter ⚠
- p.Ala742Val Single submitter ⚠
- p.Arg1041Gly Single submitter ⚠
- p.Arg1041Leu Single submitter ⚠
- p.Arg1257Gly Single submitter ⚠
- p.Arg1320His Single submitter ⚠
- p.Arg133Leu Single submitter ⚠
- p.Arg1352Gln Single submitter ⚠
- p.Arg1352Trp Single submitter ⚠
- p.Arg1390His Single submitter ⚠
- p.Arg1418Gln Single submitter ⚠
- p.Arg1423Gln Single submitter ⚠
- p.Arg1456Gln Single submitter ⚠
- p.Arg1456Gly Single submitter ⚠
- p.Arg145Gln Single submitter ⚠
- p.Arg1470Cys Single submitter ⚠
- p.Arg1470His Single submitter ⚠
- p.Arg1602Cys Single submitter ⚠
- p.Arg1629His Single submitter ⚠
- p.Arg1672His Single submitter ⚠
- p.Arg1751His Single submitter ⚠
- p.Arg1774Gln Single submitter ⚠
- p.Arg1780Trp Single submitter ⚠
- p.Arg1786Ser Single submitter ⚠
- p.Arg1836Cys Single submitter ⚠
- p.Arg1922His Single submitter ⚠
- p.Arg2067His Single submitter ⚠
- p.Arg2071Cys Single submitter ⚠
- p.Arg283Gly Single submitter ⚠
- p.Arg349Gln Single submitter ⚠
- p.Arg596Leu Single submitter ⚠
- p.Arg603Cys Single submitter ⚠
- p.Arg701Trp Single submitter ⚠
- p.Arg864Gln Single submitter ⚠
- p.Arg947Gln Single submitter ⚠
- p.Asn1240Ser Single submitter ⚠
- p.Asn1888Asp Single submitter ⚠
- p.Asn605Ser Single submitter ⚠
- p.Asn736Ser Single submitter ⚠
- p.Asn917Ser Single submitter ⚠
- p.Asp1555His Single submitter ⚠
- p.Asp1733Tyr Single submitter ⚠
- p.Cys1466Trp Single submitter ⚠
- p.Gln1084Lys Single submitter ⚠
- p.Gln1179Glu Single submitter ⚠
- p.Gln1355Glu Single submitter ⚠
- p.Gln1472His Single submitter ⚠
- p.Gln1855Glu Single submitter ⚠
- p.Gln1989Lys Single submitter ⚠
- p.Gln390Arg Single submitter ⚠
- p.Gln59Glu Single submitter ⚠
- p.Gln694Arg Single submitter ⚠
- p.Gln724Glu Single submitter ⚠
- p.Gln762His Single submitter ⚠
- p.Glu1063Gly Single submitter ⚠
- p.Glu1097Lys Single submitter ⚠
- p.Glu1115Asp Single submitter ⚠
- p.Glu134Gly Single submitter ⚠
- p.Glu1663Lys Single submitter ⚠
- p.Glu1871Asp Single submitter ⚠
- p.Glu21Gly Single submitter ⚠
- p.Glu305Lys Single submitter ⚠
- p.Glu338Ala Single submitter ⚠
- p.Glu475Asp Single submitter ⚠
- p.Glu475Gln Single submitter ⚠
- p.Glu497Lys Single submitter ⚠
- p.Glu616Lys Single submitter ⚠
- p.Glu617Asp Single submitter ⚠
- p.Glu698Lys Single submitter ⚠
- p.Glu710Gly Single submitter ⚠
- p.Glu725Lys Single submitter ⚠
- p.Glu76Asp Single submitter ⚠
- p.Gly1103Ser Single submitter ⚠
- p.Gly1180Ala Single submitter ⚠
- p.Gly1337Arg Single submitter ⚠
- p.Gly1340Ser Single submitter ⚠
- p.Gly1481Ala Single submitter ⚠
- p.Gly1719Arg Single submitter ⚠
- p.Gly1779Ala Single submitter ⚠
- p.Gly1800Ala Single submitter ⚠
- p.Gly1860Arg Single submitter ⚠
- p.Gly2079Ala Single submitter ⚠
- p.Gly237Arg Single submitter ⚠
- p.Gly350Asp Single submitter ⚠
- p.Gly368Glu Single submitter ⚠
- p.Gly443Cys Single submitter ⚠
- p.Gly575Val Single submitter ⚠
- p.Gly761Val Single submitter ⚠
- p.His1260Tyr Single submitter ⚠
- p.His1599Gln Single submitter ⚠
- p.His268Asn Single submitter ⚠
- p.His818Tyr Single submitter ⚠
- p.Ile1258Met Single submitter ⚠
- p.Ile1626Val Single submitter ⚠
- p.Ile2106Thr Single submitter ⚠
- p.Ile417Thr Single submitter ⚠
- p.Leu1106Val Single submitter ⚠
- p.Leu1214Phe Single submitter ⚠
- p.Leu158Arg Single submitter ⚠
- p.Leu1600Ile Single submitter ⚠
- p.Leu1676Phe Single submitter ⚠
- p.Leu1748Arg Single submitter ⚠
- p.Leu1952Pro Single submitter ⚠
- p.Leu224Phe Single submitter ⚠
- p.Leu242Arg Single submitter ⚠
- p.Leu314Phe Single submitter ⚠
- p.Leu517Gln Single submitter ⚠
- p.Leu583His Single submitter ⚠
- p.Leu796Phe Single submitter ⚠
- p.Leu80Val Single submitter ⚠
- p.Lys1081Asn Single submitter ⚠
- p.Lys1130Asn Single submitter ⚠
- p.Lys1309Glu Single submitter ⚠
- p.Lys1499Arg Single submitter ⚠
- p.Lys1931Arg Single submitter ⚠
- p.Lys431Gln Single submitter ⚠
- p.Lys525Arg Single submitter ⚠
- p.Met453Val Single submitter ⚠
- p.Met526Thr Single submitter ⚠
- p.Met554Thr Single submitter ⚠
- p.Phe1288Tyr Single submitter ⚠
- p.Pro1089Ser Single submitter ⚠
- p.Pro1104Ser Single submitter ⚠
- p.Pro1144Leu Single submitter ⚠
- p.Pro1211Thr Single submitter ⚠
- p.Pro1349Ser Single submitter ⚠
- p.Pro1370Arg Single submitter ⚠
- p.Pro1471Thr Single submitter ⚠
- p.Pro1520Ala Single submitter ⚠
- p.Pro1522Leu Single submitter ⚠
- p.Pro1669His Single submitter ⚠
- p.Pro1815Leu Single submitter ⚠
- p.Pro245His Single submitter ⚠
- p.Pro245Ser Single submitter ⚠
- p.Pro329Ala Single submitter ⚠
- p.Pro332Leu Single submitter ⚠
- p.Ser1060Pro Single submitter ⚠
- p.Ser1141Ala Single submitter ⚠
- p.Ser1239Ter Single submitter ESPL1-related disorder
- p.Ser1267Asn Single submitter ⚠
- p.Ser1422Phe Single submitter ⚠
- p.Ser1475Asn Single submitter ⚠
- p.Ser1515Leu Single submitter ⚠
- p.Ser15Ile Single submitter ⚠
- p.Ser1769Ile Single submitter ⚠
- p.Ser1793Cys Single submitter ⚠
- p.Ser1797Ala Single submitter ⚠
- p.Ser1810Asn Single submitter ⚠
- p.Ser1887Thr Single submitter ⚠
- p.Ser192Cys Single submitter ⚠
- p.Ser1970Arg Single submitter ⚠
- p.Ser319Leu Single submitter ⚠
- p.Ser387Phe Single submitter ⚠
- p.Ser39Asn Single submitter ⚠
- p.Ser865Asn Single submitter ⚠
- p.Ser956Asn Single submitter ⚠
- p.Thr1157Arg Single submitter ⚠
- p.Thr1436Met Single submitter ⚠
- p.Thr1837Pro Single submitter ⚠
- p.Thr433Ala Single submitter ⚠
- p.Thr89Ala Single submitter ⚠
- p.Tyr2104Asn Single submitter ⚠
- p.Tyr355Cys Single submitter ⚠
- p.Tyr473His Single submitter ⚠
- p.Tyr831Phe Single submitter ⚠
- p.Val103Asp Single submitter ⚠
- p.Val1170Leu Single submitter ⚠
- p.Val1187Met Single submitter ⚠
- p.Val129Met Single submitter ⚠
- p.Val1383Leu Single submitter ⚠
- p.Val1461Gly Single submitter ⚠
- p.Val1721Met Single submitter ⚠
- p.Val1789Ile Single submitter ⚠
- p.Val1798Met Single submitter ⚠
- p.Val2015Leu Single submitter ⚠
- p.Val635Ala Single submitter ⚠