Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127048585T>ACA119460BIN1c.1306A>T (p.Lys436Ter)
c.1723A>T (p.Lys575Ter)
c.1435A>T (p.Lys479Ter)
c.1498A>T (p.Lys500Ter)
c.1171A>T (p.Lys391Ter)
c.1462A>T (p.Lys488Ter)
c.1594A>T (p.Lys532Ter)
c.1216A>T (p.Lys406Ter)
c.1390A>T (p.Lys464Ter)
c.1369A>T (p.Lys457Ter)
c.1261A>T (p.Lys421Ter)
n.4589A>T
c.1768A>T (p.Lys590Ter)
c.1675A>T (p.Lys559Ter)
c.1630A>T (p.Lys544Ter)
c.1603A>T (p.Lys535Ter)
c.1354A>T (p.Lys452Ter)
c.1099A>T (p.Lys367Ter)
c.1636A>T (p.Lys546Ter)
c.1558A>T (p.Lys520Ter)
c.1528A>T (p.Lys510Ter)
c.1507A>T (p.Lys503Ter)
c.1483A>T (p.Lys495Ter)
c.1438A>T (p.Lys480Ter)
c.1399A>T (p.Lys467Ter)
c.1309A>T (p.Lys437Ter)
c.1264A>T (p.Lys422Ter)
c.1687A>T (p.Lys563Ter)
c.1642A>T (p.Lys548Ter)
c.1696A>T (p.Lys566Ter)
c.1393A>T (p.Lys465Ter)
c.1300A>T (p.Lys434Ter)
c.1297A>T (p.Lys433Ter)
c.1228A>T (p.Lys410Ter)
c.1192A>T (p.Lys398Ter)
c.1189A>T (p.Lys397Ter)
c.1096A>T (p.Lys366Ter)
c.1051A>T (p.Lys351Ter)
 ClinVar dbSNP
2g.127048585T=CA1286710727BIN1c.1306A= (p.Lys436=)
c.1723A= (p.Lys575=)
c.1435A= (p.Lys479=)
c.1498A= (p.Lys500=)
c.1171A= (p.Lys391=)
c.1462A= (p.Lys488=)
c.1594A= (p.Lys532=)
c.1216A= (p.Lys406=)
c.1390A= (p.Lys464=)
c.1369A= (p.Lys457=)
c.1261A= (p.Lys421=)
n.4589A=
c.1768A= (p.Lys590=)
c.1675A= (p.Lys559=)
c.1630A= (p.Lys544=)
c.1603A= (p.Lys535=)
c.1354A= (p.Lys452=)
c.1099A= (p.Lys367=)
c.1636A= (p.Lys546=)
c.1558A= (p.Lys520=)
c.1528A= (p.Lys510=)
c.1507A= (p.Lys503=)
c.1483A= (p.Lys495=)
c.1438A= (p.Lys480=)
c.1399A= (p.Lys467=)
c.1309A= (p.Lys437=)
c.1264A= (p.Lys422=)
c.1687A= (p.Lys563=)
c.1642A= (p.Lys548=)
c.1696A= (p.Lys566=)
c.1393A= (p.Lys465=)
c.1300A= (p.Lys434=)
c.1297A= (p.Lys433=)
c.1228A= (p.Lys410=)
c.1192A= (p.Lys398=)
c.1189A= (p.Lys397=)
c.1096A= (p.Lys366=)
c.1051A= (p.Lys351=)
 dbSNP
2g.127048585T>CCA348373555BIN1c.1306A>G (p.Lys436Glu)
c.1723A>G (p.Lys575Glu)
c.1435A>G (p.Lys479Glu)
c.1498A>G (p.Lys500Glu)
c.1171A>G (p.Lys391Glu)
c.1462A>G (p.Lys488Glu)
c.1594A>G (p.Lys532Glu)
c.1216A>G (p.Lys406Glu)
c.1390A>G (p.Lys464Glu)
c.1369A>G (p.Lys457Glu)
c.1261A>G (p.Lys421Glu)
n.4589A>G
c.1768A>G (p.Lys590Glu)
c.1675A>G (p.Lys559Glu)
c.1630A>G (p.Lys544Glu)
c.1603A>G (p.Lys535Glu)
c.1354A>G (p.Lys452Glu)
c.1099A>G (p.Lys367Glu)
c.1636A>G (p.Lys546Glu)
c.1558A>G (p.Lys520Glu)
c.1528A>G (p.Lys510Glu)
c.1507A>G (p.Lys503Glu)
c.1483A>G (p.Lys495Glu)
c.1438A>G (p.Lys480Glu)
c.1399A>G (p.Lys467Glu)
c.1309A>G (p.Lys437Glu)
c.1264A>G (p.Lys422Glu)
c.1687A>G (p.Lys563Glu)
c.1642A>G (p.Lys548Glu)
c.1696A>G (p.Lys566Glu)
c.1393A>G (p.Lys465Glu)
c.1300A>G (p.Lys434Glu)
c.1297A>G (p.Lys433Glu)
c.1228A>G (p.Lys410Glu)
c.1192A>G (p.Lys398Glu)
c.1189A>G (p.Lys397Glu)
c.1096A>G (p.Lys366Glu)
c.1051A>G (p.Lys351Glu)
 dbSNP gnomAD v4

Number of alleles fetched