BRWD1 — 307 ClinVar variants
All ClinVar germline BRWD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 239 flagged for review →
2 Likely pathogenic · 2 Conflicting · 20 Benign · 35 Likely benign · 248 Uncertain significance
Full BRWD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 239
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.
-
BRWD1 p.Gln1858Leu
Likely pathogenic
Single submitter
ciliary dyskinesia, primary, 51
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 202
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 202
- BRWD1 c.*8854G>C Uncertain significance Single submitter
- BRWD1 c.*8886T>C Uncertain significance Single submitter
- BRWD1 c.*8937G>T Uncertain significance Single submitter
- BRWD1 c.*8940A>G Uncertain significance Single submitter
- BRWD1 c.*8964C>T Uncertain significance Single submitter
- BRWD1 c.*8965G>A Uncertain significance Single submitter
- BRWD1 c.*9003A>G Uncertain significance Single submitter
- BRWD1 c.*9056G>T Uncertain significance Single submitter
- BRWD1 c.*9087T>G Uncertain significance Single submitter
- BRWD1 c.*9094C>T Uncertain significance Single submitter
- BRWD1 c.*9130A>G Uncertain significance Single submitter
- BRWD1 c.*9133A>G Uncertain significance Single submitter
- BRWD1 c.*9136C>A Uncertain significance Single submitter
- BRWD1 c.*9145A>G Uncertain significance Single submitter
- BRWD1 c.*9157A>C Uncertain significance Single submitter
- BRWD1 c.*9175T>C Uncertain significance Single submitter
- BRWD1 c.*9179T>A Uncertain significance Single submitter
- BRWD1 c.*9211C>T Uncertain significance Single submitter
- BRWD1 p.Ala1622Pro Uncertain significance Single submitter
- BRWD1 p.Ala193Thr Uncertain significance Single submitter
- BRWD1 p.Ala2040Glu Uncertain significance Single submitter
- BRWD1 p.Ala2107Pro Uncertain significance Single submitter
- BRWD1 p.Ala468Ser Uncertain significance Single submitter
- BRWD1 p.Ala7Pro Uncertain significance Single submitter
- BRWD1 p.Arg1056His Uncertain significance Single submitter
- BRWD1 p.Arg1364Lys Uncertain significance Single submitter
- BRWD1 p.Arg1441Gln Uncertain significance Single submitter
- BRWD1 p.Arg1461Ser Uncertain significance Single submitter
- BRWD1 p.Arg1514Gly Uncertain significance Single submitter
- BRWD1 p.Arg1558Cys Uncertain significance Single submitter
- BRWD1 p.Arg1573Gly Uncertain significance Single submitter
- BRWD1 p.Arg1599Gln Uncertain significance Single submitter
- BRWD1 p.Arg1727Pro Uncertain significance Single submitter
- BRWD1 p.Arg1727Trp Uncertain significance Single submitter
- BRWD1 p.Arg1801Ser Uncertain significance Single submitter
- BRWD1 p.Arg1901Lys Uncertain significance Single submitter
- BRWD1 p.Arg2094His Uncertain significance Single submitter
- BRWD1 p.Arg403Gly Uncertain significance Single submitter
- BRWD1 p.Arg648His Uncertain significance Single submitter
- BRWD1 p.Arg679Thr Uncertain significance Single submitter
- BRWD1 p.Arg689Gln Uncertain significance Single submitter
- BRWD1 p.Arg689Trp Uncertain significance Single submitter
- BRWD1 p.Arg800His Uncertain significance Single submitter
- BRWD1 p.Arg810Cys Uncertain significance Single submitter
- BRWD1 p.Arg925Trp Uncertain significance Single submitter
- BRWD1 p.Arg969Gln Uncertain significance Single submitter
- BRWD1 p.Asn1268Asp Uncertain significance Single submitter
- BRWD1 p.Asn1429Ser Uncertain significance Single submitter
- BRWD1 p.Asn1571Ser Uncertain significance Single submitter
- BRWD1 p.Asn1638Ser Uncertain significance Single submitter
- BRWD1 p.Asn1711Ser Uncertain significance Single submitter
- BRWD1 p.Asn1952Ser Uncertain significance Single submitter
- BRWD1 p.Asn804His Uncertain significance Single submitter
- BRWD1 p.Asn903Thr Uncertain significance Single submitter
- BRWD1 p.Asp1036Asn Uncertain significance Single submitter
- BRWD1 p.Asp1303Gly Uncertain significance Single submitter
- BRWD1 p.Asp1349Val Uncertain significance Single submitter
- BRWD1 p.Asp1534Gly Uncertain significance Single submitter
- BRWD1 p.Asp1695Asn Uncertain significance Single submitter
- BRWD1 p.Asp1947Gly Uncertain significance Single submitter
- BRWD1 p.Asp1978Ala Uncertain significance Single submitter
- BRWD1 p.Cys1985Phe Uncertain significance Single submitter
- BRWD1 p.Cys798Tyr Uncertain significance Single submitter
- BRWD1 p.Gln1698His Uncertain significance Single submitter
- BRWD1 p.Gln1830His Uncertain significance Single submitter
- BRWD1 p.Gln1889Arg Uncertain significance Single submitter
- BRWD1 p.Gln36Glu Uncertain significance Single submitter
- BRWD1 p.Gln665Glu Uncertain significance Single submitter
- BRWD1 p.Gln666Arg Uncertain significance Single submitter
- BRWD1 p.Glu1164Lys Uncertain significance Single submitter
- BRWD1 p.Glu1529Gly Uncertain significance Single submitter
- BRWD1 p.Glu1653Lys Uncertain significance Single submitter
- BRWD1 p.Glu1696Lys Uncertain significance Single submitter
- BRWD1 p.Glu1823Gly Uncertain significance Single submitter
- BRWD1 p.Glu2134Asp Uncertain significance Single submitter
- BRWD1 p.Glu306Val Uncertain significance Single submitter
- BRWD1 p.Glu319Lys Uncertain significance Single submitter
- BRWD1 p.Glu359Asp Uncertain significance Single submitter
- BRWD1 p.Glu41Lys Uncertain significance Single submitter
- BRWD1 p.Gly1488Glu Uncertain significance Single submitter
- BRWD1 p.Gly1623Glu Uncertain significance Single submitter
- BRWD1 p.Gly1835Glu Uncertain significance Single submitter
- BRWD1 p.Gly2005Cys Uncertain significance Single submitter
- BRWD1 p.His199Arg Uncertain significance Single submitter
- BRWD1 p.His2028Arg Uncertain significance Single submitter
- BRWD1 p.His2032Arg Uncertain significance Single submitter
- BRWD1 p.His448Arg Uncertain significance Single submitter
- BRWD1 p.Ile1173Val Uncertain significance Single submitter
- BRWD1 p.Ile1181Thr Uncertain significance Single submitter
- BRWD1 p.Ile1787Val Uncertain significance Single submitter
- BRWD1 p.Ile1845Val Uncertain significance Single submitter
- BRWD1 p.Ile1854Thr Uncertain significance Single submitter
- BRWD1 p.Ile273Val Uncertain significance Single submitter
- BRWD1 p.Ile483Val Uncertain significance Single submitter
- BRWD1 p.Ile495Met Uncertain significance Single submitter
- BRWD1 p.Ile638Val Uncertain significance Single submitter
- BRWD1 p.Ile728Met Uncertain significance Single submitter
- BRWD1 p.Ile966Met Uncertain significance Single submitter
- BRWD1 p.Ile966Val Uncertain significance Single submitter
- BRWD1 p.Leu13Val Uncertain significance Single submitter
- BRWD1 p.Leu1487Pro Uncertain significance Single submitter
- BRWD1 p.Leu1536Ser Uncertain significance Single submitter
- BRWD1 p.Leu1751Pro Uncertain significance Single submitter
- BRWD1 p.Leu1751Val Uncertain significance Single submitter
- BRWD1 p.Leu1819Gln Uncertain significance Single submitter
- BRWD1 p.Leu1950Val Uncertain significance Single submitter
- BRWD1 p.Leu2075Ser Uncertain significance Single submitter
- BRWD1 p.Leu315Val Uncertain significance Single submitter
- BRWD1 p.Leu681Val Uncertain significance Single submitter
- BRWD1 p.Lys1305Arg Uncertain significance Single submitter
- BRWD1 p.Lys1323Met Uncertain significance Single submitter
- BRWD1 p.Lys1417Glu Uncertain significance Single submitter
- BRWD1 p.Lys1491Arg Uncertain significance Single submitter
- BRWD1 p.Lys1619Arg Uncertain significance Single submitter
- BRWD1 p.Lys1619Glu Uncertain significance Single submitter
- BRWD1 p.Lys1749Glu Uncertain significance Single submitter
- BRWD1 p.Lys1761Glu Uncertain significance Single submitter
- BRWD1 p.Lys177Glu Uncertain significance Single submitter
- BRWD1 p.Lys1878Thr Uncertain significance Single submitter
- BRWD1 p.Lys1958Gln Uncertain significance Single submitter
- BRWD1 p.Lys2113Glu Uncertain significance Single submitter
- BRWD1 p.Lys908Glu Uncertain significance Single submitter
- BRWD1 p.Met172Ile Uncertain significance Single submitter
- BRWD1 p.Met1883Val Uncertain significance Single submitter
- BRWD1 p.Met465Val Uncertain significance Single submitter
- BRWD1 p.Met935Thr Uncertain significance Single submitter
- BRWD1 p.Pro10Arg Uncertain significance Single submitter
- BRWD1 p.Pro1375Ser Uncertain significance Single submitter
- BRWD1 p.Pro1470Ser Uncertain significance Single submitter
- BRWD1 p.Pro1586Ser Uncertain significance Single submitter
- BRWD1 p.Pro1743Leu Uncertain significance Single submitter
- BRWD1 p.Pro1775Ser Uncertain significance Single submitter
- BRWD1 p.Pro1795Ser Uncertain significance Single submitter
- BRWD1 p.Pro1844Arg Uncertain significance Single submitter
- BRWD1 p.Pro1879Ala Uncertain significance Single submitter
- BRWD1 p.Pro1964Ala Uncertain significance Single submitter
- BRWD1 p.Pro1964Leu Uncertain significance Single submitter
- BRWD1 p.Pro358Ser Uncertain significance Single submitter
- BRWD1 p.Pro688Ala Uncertain significance Single submitter
- BRWD1 p.Pro944Ser Uncertain significance Single submitter
- BRWD1 p.Ser1161Leu Uncertain significance Single submitter
- BRWD1 p.Ser1289Asn Uncertain significance Single submitter
- BRWD1 p.Ser1296Phe Uncertain significance Single submitter
- BRWD1 p.Ser145Phe Uncertain significance Single submitter
- BRWD1 p.Ser1482Gly Uncertain significance Single submitter
- BRWD1 p.Ser1505Tyr Uncertain significance Single submitter
- BRWD1 p.Ser1535Cys Uncertain significance Single submitter
- BRWD1 p.Ser1539Cys Uncertain significance Single submitter
- BRWD1 p.Ser1546Gly Uncertain significance Single submitter
- BRWD1 p.Ser1554Arg Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- BRWD1 p.Ala261Thr Uncertain significance Single submitter
- BRWD1 p.Ala28Val Uncertain significance Single submitter
- BRWD1 p.Arg1042Gly Uncertain significance Single submitter
- BRWD1 p.Arg1056Cys Uncertain significance Single submitter
- BRWD1 p.Arg1929Gln Uncertain significance Single submitter
- BRWD1 p.Arg1929Gly Uncertain significance Single submitter
- BRWD1 p.Arg219Gly Uncertain significance Single submitter
- BRWD1 p.Arg725Cys Uncertain significance Single submitter
- BRWD1 p.Arg732Cys Uncertain significance Single submitter
- BRWD1 p.Asn2097Lys Uncertain significance Single submitter
- BRWD1 p.Asn217Lys Uncertain significance Single submitter
- BRWD1 p.Asp1180Gly Uncertain significance Single submitter
- BRWD1 p.Glu363Asp Uncertain significance Single submitter
-
BRWD1 p.Glu973Gly
Uncertain significance
Single submitter
ciliary dyskinesia, primary, 51
- BRWD1 p.Ile97Asn Uncertain significance Single submitter
- BRWD1 p.Leu38Val Uncertain significance Single submitter
- BRWD1 p.Leu655Phe Uncertain significance Single submitter
- BRWD1 p.Lys50Glu Uncertain significance Single submitter
- BRWD1 p.Met558Ile Uncertain significance Single submitter
- BRWD1 p.Pro280Ser Uncertain significance Single submitter
- BRWD1 p.Ser1607Phe Uncertain significance Single submitter
- BRWD1 p.Ser1820Arg Uncertain significance Single submitter
- BRWD1 p.Ser439Gly Uncertain significance Single submitter
- BRWD1 p.Thr1018Pro Uncertain significance Single submitter
- BRWD1 p.Thr1205Ile Uncertain significance Single submitter
- BRWD1 p.Thr1366Ser Uncertain significance Single submitter
- BRWD1 p.Thr1575Ile Uncertain significance Single submitter
- BRWD1 p.Thr368Ala Uncertain significance Single submitter
- BRWD1 p.Thr368Ser Uncertain significance Single submitter
- BRWD1 p.Thr687Ile Uncertain significance Single submitter
- BRWD1 p.Tyr1231His Uncertain significance Single submitter
- BRWD1 p.Tyr574Cys Uncertain significance Single submitter
- BRWD1 p.Val298Ala Uncertain significance Single submitter
-
BRWD1 p.Gly56Ser
Uncertain significance
No assertion criteria
situs inversus
All BRWD1 variants
Likely pathogenic 2
- p.Arg219His Single submitter primary ovarian failure
- p.Gln1858Leu Single submitter ciliary dyskinesia, primary, 51 ⚠
Conflicting classifications of pathogenicity 2
- p.Leu1869Val Single submitter ⚠
- p.His175Tyr No assertion criteria situs inversus ⚠
Benign 20
- c.50-14T>C Multiple submitters
- p.Leu1699Pro Multiple submitters
- p.Ser1511Pro Multiple submitters
- p.Gln529= Single submitter
- c.3659+10A>C No assertion criteria BRWD1-related disorder
- c.3786-9G>C No assertion criteria BRWD1-related disorder
- c.831+9G>C No assertion criteria BRWD1-related disorder
- c.-4G>C No assertion criteria BRWD1-related disorder
- p.Ala245= No assertion criteria BRWD1-related disorder
- p.Gly1187= No assertion criteria BRWD1-related disorder
- p.His72= No assertion criteria BRWD1-related disorder
- p.Ile1468Val No assertion criteria BRWD1-related disorder
- p.Ile2140Thr No assertion criteria BRWD1-related disorder
- p.Met670Ile No assertion criteria BRWD1-related disorder
- p.Thr1311= No assertion criteria BRWD1-related disorder
- p.Thr2050Ala No assertion criteria BRWD1-related disorder
- p.Thr499= No assertion criteria BRWD1-related disorder
- p.Tyr288= No assertion criteria BRWD1-related disorder
- p.Val1532Met No assertion criteria BRWD1-related disorder
- p.Val334= No assertion criteria BRWD1-related disorder
Likely benign 35
- p.Asn2173= Multiple submitters
- c.2256-12T>G Single submitter
- p.Ala1810Val Single submitter
- p.Arg1718Gly Single submitter
- p.Arg925Gln Single submitter
- p.Asn1312Ser Single submitter
- p.Ile152= Single submitter
- p.Ile1854Val Single submitter
- p.Leu1222= Single submitter
- p.Leu1384= Single submitter
- p.Leu2232= Single submitter
- p.Leu780= Single submitter
- p.Met1035Thr Single submitter
- p.Phe397= Single submitter
- p.Pro919= Single submitter
- p.Ser1860Phe Single submitter
- p.Ser2131Leu Single submitter
- p.Ser419= Single submitter
- p.Val1226Ile Single submitter
- p.Val1945Ala Single submitter
- c.1104+9C>T No assertion criteria BRWD1-related disorder
- c.2767-9C>T No assertion criteria BRWD1-related disorder
- c.*8856G>A No assertion criteria BRWD1-related disorder
- p.Ala1369= No assertion criteria BRWD1-related disorder
- p.Arg648= No assertion criteria BRWD1-related disorder
- p.Asp53= No assertion criteria BRWD1-related disorder
- p.Gly1032= No assertion criteria BRWD1-related disorder
- p.Ile1818Val No assertion criteria BRWD1-related disorder
- p.Leu1675= No assertion criteria BRWD1-related disorder
- p.Leu1965Phe No assertion criteria BRWD1-related disorder
- p.Lys156Arg No assertion criteria BRWD1-related disorder
- p.Lys2156Arg No assertion criteria BRWD1-related disorder
- p.Ser1408= No assertion criteria BRWD1-related disorder
- p.Ser1548Thr No assertion criteria BRWD1-related disorder
- p.Ser2131= No assertion criteria BRWD1-related disorder
Uncertain significance 248
- c.2893-1G>T Single submitter BRWD1-related disorder
- c.*8854G>C Single submitter ⚠
- c.*8886T>C Single submitter ⚠
- c.*8937G>T Single submitter ⚠
- c.*8940A>G Single submitter ⚠
- c.*8964C>T Single submitter ⚠
- c.*8965G>A Single submitter ⚠
- c.*9003A>G Single submitter ⚠
- c.*9056G>T Single submitter ⚠
- c.*9087T>G Single submitter ⚠
- c.*9094C>T Single submitter ⚠
- c.*9130A>G Single submitter ⚠
- c.*9133A>G Single submitter ⚠
- c.*9136C>A Single submitter ⚠
- c.*9145A>G Single submitter ⚠
- c.*9157A>C Single submitter ⚠
- c.*9175T>C Single submitter ⚠
- c.*9179T>A Single submitter ⚠
- c.*9211C>T Single submitter ⚠
- p.Ala1622Pro Single submitter ⚠
- p.Ala193Thr Single submitter ⚠
- p.Ala2040Glu Single submitter ⚠
- p.Ala2107Pro Single submitter ⚠
- p.Ala261Thr Single submitter ⚠
- p.Ala28Val Single submitter ⚠
- p.Ala468Ser Single submitter ⚠
- p.Ala7Pro Single submitter ⚠
- p.Arg1042Gly Single submitter ⚠
- p.Arg1056Cys Single submitter ⚠
- p.Arg1056His Single submitter ⚠
- p.Arg1364Lys Single submitter ⚠
- p.Arg1441Gln Single submitter ⚠
- p.Arg1461Ser Single submitter ⚠
- p.Arg1514Gly Single submitter ⚠
- p.Arg1558Cys Single submitter ⚠
- p.Arg1573Gly Single submitter ⚠
- p.Arg1582fs Single submitter
- p.Arg1599Gln Single submitter ⚠
- p.Arg1727Pro Single submitter ⚠
- p.Arg1727Trp Single submitter ⚠
- p.Arg1801Ser Single submitter ⚠
- p.Arg1901Lys Single submitter ⚠
- p.Arg1929Gln Single submitter ⚠
- p.Arg1929Gly Single submitter ⚠
- p.Arg2094His Single submitter ⚠
- p.Arg219Gly Single submitter ⚠
- p.Arg403Gly Single submitter ⚠
- p.Arg648His Single submitter ⚠
- p.Arg679Thr Single submitter ⚠
- p.Arg689Gln Single submitter ⚠
- p.Arg689Trp Single submitter ⚠
- p.Arg725Cys Single submitter ⚠
- p.Arg732Cys Single submitter ⚠
- p.Arg800His Single submitter ⚠
- p.Arg810Cys Single submitter ⚠
- p.Arg925Trp Single submitter ⚠
- p.Arg969Gln Single submitter ⚠
- p.Asn1268Asp Single submitter ⚠
- p.Asn1429Ser Single submitter ⚠
- p.Asn1571Ser Single submitter ⚠
- p.Asn1638Ser Single submitter ⚠
- p.Asn1711Ser Single submitter ⚠
- p.Asn1952Ser Single submitter ⚠
- p.Asn2097Lys Single submitter ⚠
- p.Asn217Lys Single submitter ⚠
- p.Asn804His Single submitter ⚠
- p.Asn903Thr Single submitter ⚠
- p.Asp1036Asn Single submitter ⚠
- p.Asp1180Gly Single submitter ⚠
- p.Asp1303Gly Single submitter ⚠
- p.Asp1349Val Single submitter ⚠
- p.Asp1534Gly Single submitter ⚠
- p.Asp1695Asn Single submitter ⚠
- p.Asp1947Gly Single submitter ⚠
- p.Asp1978Ala Single submitter ⚠
- p.Asp667Gly Single submitter
- p.Cys161fs Single submitter ciliary dyskinesia, primary, 51
- p.Cys1985Phe Single submitter ⚠
- p.Cys798Tyr Single submitter ⚠
- p.Gln1698His Single submitter ⚠
- p.Gln1830His Single submitter ⚠
- p.Gln1889Arg Single submitter ⚠
- p.Gln36Glu Single submitter ⚠
- p.Gln665Glu Single submitter ⚠
- p.Gln666Arg Single submitter ⚠
- p.Glu1164fs Single submitter
- p.Glu1164Lys Single submitter ⚠
- p.Glu1529Gly Single submitter ⚠
- p.Glu1653Lys Single submitter ⚠
- p.Glu1696Lys Single submitter ⚠
- p.Glu1823Gly Single submitter ⚠
- p.Glu2134Asp Single submitter ⚠
- p.Glu306Val Single submitter ⚠
- p.Glu319Lys Single submitter ⚠
- p.Glu359Asp Single submitter ⚠
- p.Glu363Asp Single submitter ⚠
- p.Glu41Lys Single submitter ⚠
- p.Glu898Val Single submitter
- p.Glu973Gly Single submitter ciliary dyskinesia, primary, 51 ⚠
- p.Gly1488Glu Single submitter ⚠
- p.Gly1623Glu Single submitter ⚠
- p.Gly1835Glu Single submitter ⚠
- p.Gly2005Cys Single submitter ⚠
- p.His199Arg Single submitter ⚠
- p.His2028Arg Single submitter ⚠
- p.His2032Arg Single submitter ⚠
- p.His448Arg Single submitter ⚠
- p.Ile1173Val Single submitter ⚠
- p.Ile1181Thr Single submitter ⚠
- p.Ile1787Val Single submitter ⚠
- p.Ile1845Val Single submitter ⚠
- p.Ile1854Thr Single submitter ⚠
- p.Ile273Val Single submitter ⚠
- p.Ile483Val Single submitter ⚠
- p.Ile495Met Single submitter ⚠
- p.Ile638Val Single submitter ⚠
- p.Ile728Met Single submitter ⚠
- p.Ile966Met Single submitter ⚠
- p.Ile966Val Single submitter ⚠
- p.Ile97Asn Single submitter ⚠
- p.Leu13Val Single submitter ⚠
- p.Leu1487Pro Single submitter ⚠
- p.Leu1536Ser Single submitter ⚠
- p.Leu1751Pro Single submitter ⚠
- p.Leu1751Val Single submitter ⚠
- p.Leu1819Gln Single submitter ⚠
- p.Leu1950Val Single submitter ⚠
- p.Leu2075Ser Single submitter ⚠
- p.Leu315Val Single submitter ⚠
- p.Leu38Val Single submitter ⚠
- p.Leu485Ter Single submitter BRWD1-related disorder
- p.Leu655Phe Single submitter ⚠
- p.Leu681Val Single submitter ⚠
- p.Lys1305Arg Single submitter ⚠
- p.Lys1323Met Single submitter ⚠
- p.Lys1417Glu Single submitter ⚠
- p.Lys1491Arg Single submitter ⚠
- p.Lys1619Arg Single submitter ⚠
- p.Lys1619Glu Single submitter ⚠
- p.Lys1749Glu Single submitter ⚠
- p.Lys1761Glu Single submitter ⚠
- p.Lys177Glu Single submitter ⚠
- p.Lys1878Thr Single submitter ⚠
- p.Lys1958Gln Single submitter ⚠
- p.Lys2113Glu Single submitter ⚠
- p.Lys50Glu Single submitter ⚠
- p.Lys908Glu Single submitter ⚠
- p.Met172Ile Single submitter ⚠
- p.Met1883Val Single submitter ⚠
- p.Met465Val Single submitter ⚠
- p.Met558Ile Single submitter ⚠
- p.Met935Thr Single submitter ⚠
- p.Phe2194Cys Single submitter
- p.Pro10Arg Single submitter ⚠
- p.Pro1375Ser Single submitter ⚠
- p.Pro1470Ser Single submitter ⚠
- p.Pro1586Ser Single submitter ⚠
- p.Pro1743Leu Single submitter ⚠
- p.Pro1775Ser Single submitter ⚠
- p.Pro1795Ser Single submitter ⚠
- p.Pro1844Arg Single submitter ⚠
- p.Pro1879Ala Single submitter ⚠
- p.Pro1964Ala Single submitter ⚠
- p.Pro1964Leu Single submitter ⚠
- p.Pro280Ser Single submitter ⚠
- p.Pro358Ser Single submitter ⚠
- p.Pro688Ala Single submitter ⚠
- p.Pro944Ser Single submitter ⚠
- p.Ser1161Leu Single submitter ⚠
- p.Ser1289Asn Single submitter ⚠
- p.Ser1296Phe Single submitter ⚠
- p.Ser145Phe Single submitter ⚠
- p.Ser1482Gly Single submitter ⚠
- p.Ser1505Tyr Single submitter ⚠
- p.Ser1535Cys Single submitter ⚠
- p.Ser1539Cys Single submitter ⚠
- p.Ser1546Gly Single submitter ⚠
- p.Ser1554Arg Single submitter ⚠
- p.Ser1607Phe Single submitter ⚠
- p.Ser1654Gly Single submitter ⚠
- p.Ser1683Arg Single submitter ⚠
- p.Ser1683Thr Single submitter ⚠
- p.Ser1686Ter Single submitter
- p.Ser1760Phe Single submitter ⚠
- p.Ser1798Cys Single submitter ⚠
- p.Ser1811Asn Single submitter ⚠
- p.Ser1811Gly Single submitter ⚠
- p.Ser1820Arg Single submitter ⚠
- p.Ser1910Cys Single submitter ⚠
- p.Ser1943Asn Single submitter ⚠
- p.Ser2147Ala Single submitter ⚠
- p.Ser418Pro Single submitter ⚠
- p.Ser418Thr Single submitter ⚠
- p.Ser439Gly Single submitter ⚠
- p.Ser536Cys Single submitter ⚠
- p.Ser5Pro Single submitter ⚠
- p.Ser649Gly Single submitter ⚠
- p.Ser652Leu Single submitter ⚠
- p.Ser784= Single submitter autism
- p.Ser784Leu Single submitter ⚠
- p.Ser883Leu Single submitter ⚠
- p.Ser900Pro Single submitter ⚠
- p.Thr1018Pro Single submitter ⚠
- p.Thr1142Ile Single submitter ⚠
- p.Thr1205Ile Single submitter ⚠
- p.Thr121Ala Single submitter ⚠
- p.Thr1238Ile Single submitter ⚠
- p.Thr1366Ser Single submitter ⚠
- p.Thr1480Ala Single submitter ⚠
- p.Thr1492Ser Single submitter ⚠
- p.Thr1526Ser Single submitter ⚠
- p.Thr1538Ala Single submitter ⚠
- p.Thr1575Ile Single submitter ⚠
- p.Thr1577Ser Single submitter ⚠
- p.Thr1816Asn Single submitter ⚠
- p.Thr2007Ile Single submitter ⚠
- p.Thr2007Ser Single submitter ⚠
- p.Thr2144Asn Single submitter ⚠
- p.Thr2174Ala Single submitter ⚠
- p.Thr2176Ile Single submitter ⚠
- p.Thr270Ala Single submitter ⚠
- p.Thr292Pro Single submitter ⚠
- p.Thr368Ala Single submitter ⚠
- p.Thr368Ser Single submitter ⚠
- p.Thr602Ala Single submitter ⚠
- p.Thr687Ala Single submitter ⚠
- p.Thr687Ile Single submitter ⚠
- p.Tyr1231His Single submitter ⚠
- p.Tyr1313Phe Single submitter ⚠
- p.Tyr1372Ter Single submitter
- p.Tyr1401Asp Single submitter ⚠
- p.Tyr574Cys Single submitter ⚠
- p.Val1014Ile Single submitter ⚠
- p.Val1200Ile Single submitter ⚠
- p.Val1215Ala Single submitter ⚠
- p.Val1215Phe Single submitter ⚠
- p.Val1301Asp Single submitter ⚠
- p.Val1473Ala Single submitter ⚠
- p.Val1728Gly Single submitter ⚠
- p.Val1728Leu Single submitter ⚠
- p.Val1953Gly Single submitter ⚠
- p.Val2188Gly Single submitter ⚠
- p.Val298Ala Single submitter ⚠
- p.Val593Ile Single submitter ⚠
- p.Val965Leu Single submitter
- p.Val979Ile Single submitter ⚠
- p.Gly56Ser No assertion criteria situs inversus ⚠
- p.Leu339Ser No assertion criteria situs inversus ⚠