MAST4 — 371 ClinVar variants
All ClinVar germline MAST4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 304 flagged for review →
3 Likely pathogenic · 1 Conflicting · 6 Benign · 40 Likely benign · 321 Uncertain significance
Full MAST4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 304
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.
-
MAST4 p.Ser2552Trp
Likely pathogenic
No assertion criteria
Infantile spasms
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 256
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 256
- MAST4 p.Ala1063Thr Uncertain significance Single submitter
- MAST4 p.Ala1641Ser Uncertain significance Single submitter
- MAST4 p.Ala1747Gly Uncertain significance Single submitter
- MAST4 p.Ala1776Gly Uncertain significance Single submitter
- MAST4 p.Ala1826Thr Uncertain significance Single submitter
- MAST4 p.Ala1856Val Uncertain significance Single submitter
- MAST4 p.Ala1907Ser Uncertain significance Single submitter
- MAST4 p.Ala1951Gly Uncertain significance Single submitter
- MAST4 p.Ala1961Thr Uncertain significance Single submitter
- MAST4 p.Ala1987Asp Uncertain significance Single submitter
- MAST4 p.Ala1990Ser Uncertain significance Single submitter
- MAST4 p.Ala1990Val Uncertain significance Single submitter
- MAST4 p.Ala2037Val Uncertain significance Single submitter
- MAST4 p.Ala2064Thr Uncertain significance Single submitter
- MAST4 p.Ala2085Val Uncertain significance Single submitter
- MAST4 p.Ala2165Thr Uncertain significance Single submitter
- MAST4 p.Ala2284Val Uncertain significance Single submitter
- MAST4 p.Ala2316Glu Uncertain significance Single submitter
- MAST4 p.Ala2363Val Uncertain significance Single submitter
- MAST4 p.Ala2475Thr Uncertain significance Single submitter
- MAST4 p.Ala2487Asp Uncertain significance Single submitter
- MAST4 p.Ala2496Gly Uncertain significance Single submitter
- MAST4 p.Ala2496Thr Uncertain significance Single submitter
- MAST4 p.Ala2508Thr Uncertain significance Single submitter
- MAST4 p.Ala2544Ser Uncertain significance Single submitter
- MAST4 p.Ala271Ser Uncertain significance Single submitter
- MAST4 p.Ala580Gly Uncertain significance Single submitter
- MAST4 p.Arg1068Gln Uncertain significance Single submitter
- MAST4 p.Arg1070Gln Uncertain significance Single submitter
- MAST4 p.Arg1123Gln Uncertain significance Single submitter
- MAST4 p.Arg1482Gln Uncertain significance Single submitter
- MAST4 p.Arg1482Gly Uncertain significance Single submitter
- MAST4 p.Arg14Cys Uncertain significance Single submitter
- MAST4 p.Arg1516Gln Uncertain significance Single submitter
- MAST4 p.Arg1638Gln Uncertain significance Single submitter
- MAST4 p.Arg1638Trp Uncertain significance Single submitter
- MAST4 p.Arg1724Leu Uncertain significance Single submitter
- MAST4 p.Arg1793Lys Uncertain significance Single submitter
- MAST4 p.Arg1982Ile Uncertain significance Single submitter
- MAST4 p.Arg2090Gln Uncertain significance Single submitter
- MAST4 p.Arg2210Trp Uncertain significance Single submitter
- MAST4 p.Arg2306Lys Uncertain significance Single submitter
- MAST4 p.Arg2399Gln Uncertain significance Single submitter
- MAST4 p.Arg2473Thr Uncertain significance Single submitter
- MAST4 p.Arg2500Gly Uncertain significance Single submitter
- MAST4 p.Arg2606Gln Uncertain significance Single submitter
- MAST4 p.Arg277Trp Uncertain significance Single submitter
-
MAST4 p.Arg283Cys
Uncertain significance
Single submitter
neurodevelopmental disorder
- MAST4 p.Arg360Cys Uncertain significance Single submitter
- MAST4 p.Arg423Leu Uncertain significance Single submitter
- MAST4 p.Arg437Gln Uncertain significance Single submitter
- MAST4 p.Arg437Gly Uncertain significance Single submitter
- MAST4 p.Arg481Trp Uncertain significance Single submitter
- MAST4 p.Arg562Gln Uncertain significance Single submitter
- MAST4 p.Arg593Leu Uncertain significance Single submitter
- MAST4 p.Arg593Trp Uncertain significance Single submitter
- MAST4 p.Arg822Lys Uncertain significance Single submitter
- MAST4 p.Arg844Cys Uncertain significance Single submitter
- MAST4 p.Arg844His Uncertain significance Single submitter
- MAST4 p.Arg917Gln Uncertain significance Single submitter
- MAST4 p.Asn2014Thr Uncertain significance Single submitter
- MAST4 p.Asn2258Asp Uncertain significance Single submitter
- MAST4 p.Asn230Ser Uncertain significance Single submitter
- MAST4 p.Asn2577Asp Uncertain significance Single submitter
- MAST4 p.Asn537Ile Uncertain significance Single submitter
- MAST4 p.Asn537Lys Uncertain significance Single submitter
- MAST4 p.Asn556Asp Uncertain significance Single submitter
- MAST4 p.Asn801Ser Uncertain significance Single submitter
- MAST4 p.Asn895Ser Uncertain significance Single submitter
- MAST4 p.Asp1050Gly Uncertain significance Single submitter
- MAST4 p.Asp1528Asn Uncertain significance Single submitter
- MAST4 p.Asp1542Gly Uncertain significance Single submitter
- MAST4 p.Asp1687Tyr Uncertain significance Single submitter
- MAST4 p.Asp1852His Uncertain significance Single submitter
- MAST4 p.Asp1893Asn Uncertain significance Single submitter
- MAST4 p.Asp2010Ala Uncertain significance Single submitter
- MAST4 p.Asp2178Gly Uncertain significance Single submitter
- MAST4 p.Asp2199Glu Uncertain significance Single submitter
- MAST4 p.Asp2283Gly Uncertain significance Single submitter
- MAST4 p.Asp2355Glu Uncertain significance Single submitter
- MAST4 p.Asp2366Asn Uncertain significance Single submitter
- MAST4 p.Asp2432Glu Uncertain significance Single submitter
- MAST4 p.Asp2537Asn Uncertain significance Single submitter
- MAST4 p.Asp549Gly Uncertain significance Single submitter
- MAST4 p.Asp740Glu Uncertain significance Single submitter
- MAST4 p.Cys1048Tyr Uncertain significance Single submitter
- MAST4 p.Cys1184Gly Uncertain significance Single submitter
- MAST4 p.Cys1955Tyr Uncertain significance Single submitter
- MAST4 p.Gln1929Glu Uncertain significance Single submitter
- MAST4 p.Gln2177Arg Uncertain significance Single submitter
- MAST4 p.Gln2257Lys Uncertain significance Single submitter
- MAST4 p.Glu1017Val Uncertain significance Single submitter
- MAST4 p.Glu2084Lys Uncertain significance Single submitter
- MAST4 p.Glu2098Lys Uncertain significance Single submitter
- MAST4 p.Glu2100Gln Uncertain significance Single submitter
- MAST4 p.Glu2118Asp Uncertain significance Single submitter
- MAST4 p.Glu2118Lys Uncertain significance Single submitter
- MAST4 p.Glu388Lys Uncertain significance Single submitter
- MAST4 p.Glu799Lys Uncertain significance Single submitter
- MAST4 p.Glu925Lys Uncertain significance Single submitter
- MAST4 p.Gly1519Ser Uncertain significance Single submitter
- MAST4 p.Gly1833Asp Uncertain significance Single submitter
- MAST4 p.Gly1882Ser Uncertain significance Single submitter
- MAST4 p.Gly2039Ser Uncertain significance Single submitter
- MAST4 p.Gly2073Asp Uncertain significance Single submitter
- MAST4 p.Gly2233Cys Uncertain significance Single submitter
- MAST4 p.Gly2267Arg Uncertain significance Single submitter
- MAST4 p.Gly2267Glu Uncertain significance Single submitter
- MAST4 p.Gly2371Glu Uncertain significance Single submitter
- MAST4 p.Gly2409Glu Uncertain significance Single submitter
- MAST4 p.Gly2411Glu Uncertain significance Single submitter
- MAST4 p.Gly2489Arg Uncertain significance Single submitter
- MAST4 p.Gly2490Asp Uncertain significance Single submitter
- MAST4 p.Gly2490Ser Uncertain significance Single submitter
- MAST4 p.Gly2509Trp Uncertain significance Single submitter
- MAST4 p.Gly509Val Uncertain significance Single submitter
- MAST4 p.His1551Asp Uncertain significance Single submitter
- MAST4 p.His1555Arg Uncertain significance Single submitter
- MAST4 p.His1608Gln Uncertain significance Single submitter
- MAST4 p.His2129Pro Uncertain significance Single submitter
- MAST4 p.His2192Gln Uncertain significance Single submitter
- MAST4 p.His2395Arg Uncertain significance Single submitter
- MAST4 p.His253Gln Uncertain significance Single submitter
- MAST4 p.His2619Tyr Uncertain significance Single submitter
- MAST4 p.His454Tyr Uncertain significance Single submitter
- MAST4 p.Ile1142Thr Uncertain significance Single submitter
- MAST4 p.Ile1167Phe Uncertain significance Single submitter
- MAST4 p.Ile1223Val Uncertain significance Single submitter
- MAST4 p.Ile1409Met Uncertain significance Single submitter
- MAST4 p.Ile1686Met Uncertain significance Single submitter
- MAST4 p.Ile434Val Uncertain significance Single submitter
- MAST4 p.Ile689Val Uncertain significance Single submitter
- MAST4 p.Ile707Val Uncertain significance Single submitter
- MAST4 p.Ile800Phe Uncertain significance Single submitter
- MAST4 p.Leu1566Gln Uncertain significance Single submitter
- MAST4 p.Leu1569Val Uncertain significance Single submitter
- MAST4 p.Leu1718Pro Uncertain significance Single submitter
- MAST4 p.Leu1758Phe Uncertain significance Single submitter
- MAST4 p.Leu1774Phe Uncertain significance Single submitter
- MAST4 p.Leu1843Pro Uncertain significance Single submitter
- MAST4 p.Leu2111Val Uncertain significance Single submitter
- MAST4 p.Leu2295Val Uncertain significance Single submitter
- MAST4 p.Leu2400Trp Uncertain significance Single submitter
- MAST4 p.Leu2531Val Uncertain significance Single submitter
- MAST4 p.Leu2614Ser Uncertain significance Single submitter
- MAST4 p.Lys1003Glu Uncertain significance Single submitter
- MAST4 p.Lys1149Glu Uncertain significance Single submitter
- MAST4 p.Lys1189Arg Uncertain significance Single submitter
- MAST4 p.Lys1707Arg Uncertain significance Single submitter
- MAST4 p.Lys1936Arg Uncertain significance Single submitter
Predictors split 46
The independent predictors disagree with each other — read with care.
- MAST4 p.Arg1240Thr Uncertain significance Single submitter
- MAST4 p.Arg1308Gly Uncertain significance Single submitter
- MAST4 p.Arg1308Trp Uncertain significance Single submitter
- MAST4 p.Arg1362Trp Uncertain significance Single submitter
- MAST4 p.Arg1394Gln Uncertain significance Single submitter
- MAST4 p.Arg1512Cys Uncertain significance Single submitter
- MAST4 p.Arg227Gln Uncertain significance Single submitter
- MAST4 p.Arg231Gln Uncertain significance Single submitter
- MAST4 p.Arg245Gln Uncertain significance Single submitter
- MAST4 p.Arg2606Gly Uncertain significance Single submitter
- MAST4 p.Arg360His Uncertain significance Single submitter
- MAST4 p.Arg456His Uncertain significance Single submitter
- MAST4 p.Arg478Cys Uncertain significance Single submitter
- MAST4 p.Arg566Trp Uncertain significance Single submitter
- MAST4 p.Asn1338Asp Uncertain significance Single submitter
- MAST4 p.Cys333Tyr Uncertain significance Single submitter
- MAST4 p.Glu892Lys Uncertain significance Single submitter
- MAST4 p.Gly1199Glu Uncertain significance Single submitter
- MAST4 p.Gly1366Arg Uncertain significance Single submitter
- MAST4 p.Gly1812Arg Uncertain significance Single submitter
- MAST4 p.His1426Tyr Uncertain significance Single submitter
- MAST4 p.His247Arg Uncertain significance Single submitter
- MAST4 p.His253Arg Uncertain significance Single submitter
- MAST4 p.His326Gln Uncertain significance Single submitter
- MAST4 p.His367Arg Uncertain significance Single submitter
- MAST4 p.His503Arg Uncertain significance Single submitter
- MAST4 p.Ile800Val Uncertain significance Single submitter
- MAST4 p.Leu1278Pro Uncertain significance Single submitter
- MAST4 p.Leu462Phe Uncertain significance Single submitter
- MAST4 p.Leu529Phe Uncertain significance Single submitter
- MAST4 p.Lys1357Asn Uncertain significance Single submitter
- MAST4 p.Lys330Glu Uncertain significance Single submitter
- MAST4 p.Phe1413Leu Likely benign Single submitter
- MAST4 p.Pro1182Leu Likely benign Single submitter
- MAST4 p.Pro1436Ala Uncertain significance Single submitter
- MAST4 p.Pro1436Arg Uncertain significance Single submitter
- MAST4 p.Pro246Arg Uncertain significance Single submitter
- MAST4 p.Ser1316Cys Uncertain significance Single submitter
- MAST4 p.Ser1488Arg Uncertain significance Single submitter
- MAST4 p.Ser1612Arg Uncertain significance Single submitter
- MAST4 p.Ser909Leu Uncertain significance Single submitter
- MAST4 p.Ser914Arg Uncertain significance Single submitter
- MAST4 p.Thr1471Ile Uncertain significance Single submitter
- MAST4 p.Val1470Met Uncertain significance Single submitter
- MAST4 p.Val303Gly Uncertain significance Single submitter
- MAST4 p.Val469Ala Uncertain significance Single submitter
All MAST4 variants
Likely pathogenic 3
- p.Arg1159Trp No assertion criteria Moyamoya angiopathy
- p.Ile898Thr No assertion criteria Infantile spasms
- p.Ser2552Trp No assertion criteria Infantile spasms ⚠
Conflicting classifications of pathogenicity 1
- p.Ser1131Thr Single submitter ⚠
Benign 6
- p.Arg2128Ser Multiple submitters
- p.Gln161= Multiple submitters
- p.Leu681= Multiple submitters
- p.Thr2354= Multiple submitters
- p.Glu986Lys Single submitter
- p.Pro130= Single submitter
Likely benign 40
- c.1357-10T>C Single submitter
- p.Ala1012= Single submitter
- p.Ala2185= Single submitter
- p.Ala2363Thr Single submitter
- p.Ala2496Asp Single submitter
- p.Arg134Trp Single submitter
- p.Arg14Gly Single submitter
- p.Arg1782Lys Single submitter
- p.Arg2128Lys Single submitter
- p.Asn1944Thr Single submitter
- p.Asn2058Asp Single submitter
- p.Asn2435Ser Single submitter
- p.Glu2370= Single submitter
- p.Ile1173= Single submitter
- p.Leu1864Phe Single submitter
- p.Leu2016del Single submitter
- p.Leu2232Pro Single submitter
- p.Phe1413Leu Single submitter ⚠
- p.Phe1896Leu Single submitter
- p.Pro1182Leu Single submitter ⚠
- p.Pro1557= Single submitter
- p.Pro1821Leu Single submitter
- p.Pro1956Leu Single submitter
- p.Pro1979Ser Single submitter
- p.Pro2146Leu Single submitter
- p.Pro2358= Single submitter
- p.Pro2358Leu Single submitter
- p.Pro2422Ser Single submitter
- p.Ser1316= Single submitter
- p.Ser1947= Single submitter
- p.Ser2156= Single submitter
- p.Ser2396Gly Single submitter
- p.Ser2545Gly Single submitter
- p.Thr2205Ser Single submitter
- p.Thr2253= Single submitter
- p.Thr2482Pro Single submitter
- p.Tyr878= Single submitter
- p.Val1889Ala Single submitter
- p.Val2297Met Single submitter
- p.Val2553= Single submitter
Uncertain significance 321
Showing the top 300 by review status; the full set is in the sitemap.
- c.3526-3T>C Single submitter MAST4-associated generalized epilepsy
- c.642+40063G>C Single submitter
- c.642+40066T>C Single submitter
- c.642+40075G>A Single submitter
- c.642+55458C>T Single submitter MAST-associated epilepsy syndrome
- p.Ala1063Thr Single submitter ⚠
- p.Ala1641Ser Single submitter ⚠
- p.Ala1747Gly Single submitter ⚠
- p.Ala1776Gly Single submitter ⚠
- p.Ala1826Thr Single submitter ⚠
- p.Ala1856Val Single submitter ⚠
- p.Ala1907Ser Single submitter ⚠
- p.Ala1951Gly Single submitter ⚠
- p.Ala1961Thr Single submitter ⚠
- p.Ala1987Asp Single submitter ⚠
- p.Ala1990Ser Single submitter ⚠
- p.Ala1990Val Single submitter ⚠
- p.Ala2037Val Single submitter ⚠
- p.Ala2064Thr Single submitter ⚠
- p.Ala2085Val Single submitter ⚠
- p.Ala2165Thr Single submitter ⚠
- p.Ala2284Val Single submitter ⚠
- p.Ala2316Glu Single submitter ⚠
- p.Ala2363Val Single submitter ⚠
- p.Ala2475Thr Single submitter ⚠
- p.Ala2487Asp Single submitter ⚠
- p.Ala2496Gly Single submitter ⚠
- p.Ala2496Thr Single submitter ⚠
- p.Ala2508Thr Single submitter ⚠
- p.Ala2544Ser Single submitter ⚠
- p.Ala271Ser Single submitter ⚠
- p.Ala580Gly Single submitter ⚠
- p.Ala808Thr Single submitter
- p.Arg1068Gln Single submitter ⚠
- p.Arg1070Gln Single submitter ⚠
- p.Arg1123Gln Single submitter ⚠
- p.Arg1240Thr Single submitter ⚠
- p.Arg1250Gln Single submitter
- p.Arg1308Gly Single submitter ⚠
- p.Arg1308Trp Single submitter ⚠
- p.Arg1362Trp Single submitter ⚠
- p.Arg1394Gln Single submitter ⚠
- p.Arg1482Gln Single submitter ⚠
- p.Arg1482Gly Single submitter ⚠
- p.Arg14Cys Single submitter ⚠
- p.Arg1512Cys Single submitter ⚠
- p.Arg1516Gln Single submitter ⚠
- p.Arg1638Gln Single submitter ⚠
- p.Arg1638Trp Single submitter ⚠
- p.Arg1724Leu Single submitter ⚠
- p.Arg1793Lys Single submitter ⚠
- p.Arg1982Ile Single submitter ⚠
- p.Arg2090Gln Single submitter ⚠
- p.Arg2210Trp Single submitter ⚠
- p.Arg227Gln Single submitter ⚠
- p.Arg2306Lys Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Arg2399Gln Single submitter ⚠
- p.Arg245Gln Single submitter ⚠
- p.Arg2473Thr Single submitter ⚠
- p.Arg2500Gly Single submitter ⚠
- p.Arg2606Gln Single submitter ⚠
- p.Arg2606Gly Single submitter ⚠
- p.Arg2606Trp Single submitter
- p.Arg277Trp Single submitter ⚠
- p.Arg283Cys Single submitter neurodevelopmental disorder ⚠
- p.Arg360Cys Single submitter ⚠
- p.Arg360His Single submitter ⚠
- p.Arg423Leu Single submitter ⚠
- p.Arg437Gln Single submitter ⚠
- p.Arg437Gly Single submitter ⚠
- p.Arg456His Single submitter ⚠
- p.Arg478Cys Single submitter ⚠
- p.Arg481Trp Single submitter ⚠
- p.Arg562Gln Single submitter ⚠
- p.Arg566Trp Single submitter ⚠
- p.Arg593Leu Single submitter ⚠
- p.Arg593Trp Single submitter ⚠
- p.Arg822Lys Single submitter ⚠
- p.Arg844Cys Single submitter ⚠
- p.Arg844His Single submitter ⚠
- p.Arg917Gln Single submitter ⚠
- p.Asn1198Ser Single submitter
- p.Asn1338Asp Single submitter ⚠
- p.Asn2014Thr Single submitter ⚠
- p.Asn2258Asp Single submitter ⚠
- p.Asn230Ser Single submitter ⚠
- p.Asn2577Asp Single submitter ⚠
- p.Asn537Ile Single submitter ⚠
- p.Asn537Lys Single submitter ⚠
- p.Asn556Asp Single submitter ⚠
- p.Asn801Ser Single submitter ⚠
- p.Asn895Ser Single submitter ⚠
- p.Asp1050Gly Single submitter ⚠
- p.Asp1528Asn Single submitter ⚠
- p.Asp1542Gly Single submitter ⚠
- p.Asp1687Tyr Single submitter ⚠
- p.Asp1852His Single submitter ⚠
- p.Asp1893Asn Single submitter ⚠
- p.Asp2010Ala Single submitter ⚠
- p.Asp2178Gly Single submitter ⚠
- p.Asp2199Glu Single submitter ⚠
- p.Asp2283Gly Single submitter ⚠
- p.Asp2355Glu Single submitter ⚠
- p.Asp2366Asn Single submitter ⚠
- p.Asp2432Glu Single submitter ⚠
- p.Asp2537Asn Single submitter ⚠
- p.Asp549Gly Single submitter ⚠
- p.Asp740Glu Single submitter ⚠
- p.Asp847Asn Single submitter
- p.Cys1048Tyr Single submitter ⚠
- p.Cys1184Gly Single submitter ⚠
- p.Cys1955Tyr Single submitter ⚠
- p.Cys333Tyr Single submitter ⚠
- p.Gln1929Glu Single submitter ⚠
- p.Gln2177Arg Single submitter ⚠
- p.Gln2257Lys Single submitter ⚠
- p.Glu1017Val Single submitter ⚠
- p.Glu2084Lys Single submitter ⚠
- p.Glu2098Lys Single submitter ⚠
- p.Glu2100Gln Single submitter ⚠
- p.Glu2118Asp Single submitter ⚠
- p.Glu2118Lys Single submitter ⚠
- p.Glu2474fs Single submitter
- p.Glu388Lys Single submitter ⚠
- p.Glu393Lys Single submitter
- p.Glu799Lys Single submitter ⚠
- p.Glu892Lys Single submitter ⚠
- p.Glu925Lys Single submitter ⚠
- p.Gly1199Glu Single submitter ⚠
- p.Gly1366Arg Single submitter ⚠
- p.Gly1519Ser Single submitter ⚠
- p.Gly1812Arg Single submitter ⚠
- p.Gly1833Asp Single submitter ⚠
- p.Gly1882Ser Single submitter ⚠
- p.Gly2039Ser Single submitter ⚠
- p.Gly2073Asp Single submitter ⚠
- p.Gly2233Cys Single submitter ⚠
- p.Gly2267Arg Single submitter ⚠
- p.Gly2267Glu Single submitter ⚠
- p.Gly2371Glu Single submitter ⚠
- p.Gly2409Glu Single submitter ⚠
- p.Gly2411Glu Single submitter ⚠
- p.Gly2489Arg Single submitter ⚠
- p.Gly2490Asp Single submitter ⚠
- p.Gly2490Ser Single submitter ⚠
- p.Gly2509Trp Single submitter ⚠
- p.Gly509Val Single submitter ⚠
- p.His1426Tyr Single submitter ⚠
- p.His1551Asp Single submitter ⚠
- p.His1555Arg Single submitter ⚠
- p.His1608Gln Single submitter ⚠
- p.His2129Pro Single submitter ⚠
- p.His2192Gln Single submitter ⚠
- p.His2395Arg Single submitter ⚠
- p.His247Arg Single submitter ⚠
- p.His253Arg Single submitter ⚠
- p.His253Gln Single submitter ⚠
- p.His2619Tyr Single submitter ⚠
- p.His326Gln Single submitter ⚠
- p.His367Arg Single submitter ⚠
- p.His454Tyr Single submitter ⚠
- p.His503Arg Single submitter ⚠
- p.Ile1142Thr Single submitter ⚠
- p.Ile1167Phe Single submitter ⚠
- p.Ile1223Val Single submitter ⚠
- p.Ile1409Met Single submitter ⚠
- p.Ile1686Met Single submitter ⚠
- p.Ile434Val Single submitter ⚠
- p.Ile689Val Single submitter ⚠
- p.Ile707Val Single submitter ⚠
- p.Ile800Phe Single submitter ⚠
- p.Ile800Val Single submitter ⚠
- p.Leu1278Pro Single submitter ⚠
- p.Leu1305Val Single submitter
- p.Leu1566Gln Single submitter ⚠
- p.Leu1569Val Single submitter ⚠
- p.Leu1718Pro Single submitter ⚠
- p.Leu1758Phe Single submitter ⚠
- p.Leu1774Phe Single submitter ⚠
- p.Leu1843Pro Single submitter ⚠
- p.Leu2111Val Single submitter ⚠
- p.Leu2295Val Single submitter ⚠
- p.Leu2400Trp Single submitter ⚠
- p.Leu2531Val Single submitter ⚠
- p.Leu2614Ser Single submitter ⚠
- p.Leu462Phe Single submitter ⚠
- p.Leu529Phe Single submitter ⚠
- p.Lys1003Glu Single submitter ⚠
- p.Lys1149Glu Single submitter ⚠
- p.Lys1189Arg Single submitter ⚠
- p.Lys1357Asn Single submitter ⚠
- p.Lys1517Thr Single submitter
- p.Lys1707Arg Single submitter ⚠
- p.Lys1936Arg Single submitter ⚠
- p.Lys2181Asn Single submitter ⚠
- p.Lys2300Arg Single submitter ⚠
- p.Lys232Arg Single submitter
- p.Lys2372Arg Single submitter ⚠
- p.Lys2584Glu Single submitter ⚠
- p.Lys330Glu Single submitter ⚠
- p.Lys445Arg Single submitter ⚠
- p.Lys564Arg Single submitter ⚠
- p.Met1066Val Single submitter ⚠
- p.Met1100Thr Single submitter ⚠
- p.Met1110Val Single submitter ⚠
- p.Phe842Leu Single submitter ⚠
- p.Pro1007Arg Single submitter ⚠
- p.Pro1141Leu Single submitter ⚠
- p.Pro1387Gln Single submitter ⚠
- p.Pro1436Ala Single submitter ⚠
- p.Pro1436Arg Single submitter ⚠
- p.Pro1513Leu Single submitter ⚠
- p.Pro1513Ser Single submitter ⚠
- p.Pro1578Ala Single submitter ⚠
- p.Pro1640Arg Single submitter ⚠
- p.Pro1640Leu Single submitter ⚠
- p.Pro1725Ala Single submitter ⚠
- p.Pro1733Leu Single submitter ⚠
- p.Pro1734Leu Single submitter ⚠
- p.Pro1780Ser Single submitter ⚠
- p.Pro1823Ala Single submitter ⚠
- p.Pro1874Leu Single submitter ⚠
- p.Pro1874Thr Single submitter ⚠
- p.Pro1935Ala Single submitter ⚠
- p.Pro1953Ser Single submitter ⚠
- p.Pro1953Thr Single submitter ⚠
- p.Pro1958Leu Single submitter ⚠
- p.Pro1968Leu Single submitter ⚠
- p.Pro2083Arg Single submitter ⚠
- p.Pro2083Ser Single submitter ⚠
- p.Pro2095Arg Single submitter ⚠
- p.Pro2135Leu Single submitter ⚠
- p.Pro2176Ala Single submitter ⚠
- p.Pro2179Leu Single submitter ⚠
- p.Pro2208Thr Single submitter ⚠
- p.Pro2274Leu Single submitter ⚠
- p.Pro2281Leu Single submitter ⚠
- p.Pro2305Leu Single submitter ⚠
- p.Pro2312Ser Single submitter ⚠
- p.Pro2424Ser Single submitter ⚠
- p.Pro2427Leu Single submitter ⚠
- p.Pro2427Thr Single submitter ⚠
- p.Pro246Arg Single submitter ⚠
- p.Pro2530Leu Single submitter ⚠
- p.Pro2565Arg Single submitter ⚠
- p.Pro2587Ser Single submitter ⚠
- p.Pro2594Ser Single submitter ⚠
- p.Pro322Ala Single submitter ⚠
- p.Pro34Leu Single submitter ⚠
- p.Pro358Ser Single submitter ⚠
- p.Pro400Thr Single submitter
- p.Pro546_Thr548del Single submitter
- p.Pro546Thr Single submitter ⚠
- p.Pro811Ser Single submitter ⚠
- p.Ser1056Leu Single submitter ⚠
- p.Ser1073Thr Single submitter ⚠
- p.Ser1132Leu Single submitter ⚠
- p.Ser1147Trp Single submitter
- p.Ser1217Thr Single submitter
- p.Ser1316Cys Single submitter ⚠
- p.Ser1488Arg Single submitter ⚠
- p.Ser1601Arg Single submitter ⚠
- p.Ser1612Arg Single submitter ⚠
- p.Ser1612Asn Single submitter ⚠
- p.Ser1744Gly Single submitter ⚠
- p.Ser1779Cys Single submitter ⚠
- p.Ser1796Leu Single submitter ⚠
- p.Ser1855Thr Single submitter ⚠
- p.Ser1974Cys Single submitter ⚠
- p.Ser2059Thr Single submitter ⚠
- p.Ser2059Tyr Single submitter ⚠
- p.Ser2102Arg Single submitter ⚠
- p.Ser2153Asn Single submitter ⚠
- p.Ser2187Asn Single submitter ⚠
- p.Ser2211Cys Single submitter ⚠
- p.Ser2211del Single submitter MAST4-related disorder
- p.Ser2218Asn Single submitter ⚠
- p.Ser2235Cys Single submitter ⚠
- p.Ser2236Arg Single submitter ⚠
- p.Ser2245Asn Single submitter ⚠
- p.Ser2462Cys Single submitter ⚠
- p.Ser2518Asn Single submitter ⚠
- p.Ser2552Leu Single submitter ⚠
- p.Ser2617Asn Single submitter ⚠
- p.Ser540Thr Single submitter ⚠
- p.Ser909Leu Single submitter ⚠
- p.Ser914Arg Single submitter ⚠
- p.Ser966Asn Single submitter ⚠
- p.Thr1471Ile Single submitter ⚠
- p.Thr1644Ala Single submitter ⚠
- p.Thr1644Ser Single submitter ⚠
- p.Thr1939Asn Single submitter ⚠
- p.Thr2205Ala Single submitter ⚠
- p.Thr2222Ile Single submitter ⚠
- p.Thr2344Ala Single submitter ⚠
- p.Thr2375Ala Single submitter ⚠
- p.Thr2375Ile Single submitter ⚠
- p.Thr2375Pro Single submitter ⚠
- p.Thr2554Ile Single submitter ⚠