Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112828864G>ACA005411APCc.1409-6087G>A (n.1409-6087G>A)
c.1689G>A (p.Ala563=)
n.1691G>A
c.*1641G>A (n.*1641G>A)
c.1581G>A (p.Ala527=)
c.1635G>A (p.Ala545=)
c.97-6087G>A
c.324G>A (p.Ala108=)
n.122G>A
c.*957G>A (n.*957G>A)
c.122G>A
c.1665G>A (p.Ala555=)
c.1560G>A (p.Ala520=)
c.1551G>A (p.Ala517=)
c.1512G>A (p.Ala504=)
c.1458G>A (p.Ala486=)
c.1362G>A (p.Ala454=)
c.1332G>A (p.Ala444=)
c.1257G>A (p.Ala419=)
c.1155G>A (p.Ala385=)
c.786G>A (p.Ala262=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112828864G>CCA445757372APCc.1409-6087G>C (n.1409-6087G>C)
c.1689G>C (p.Ala563=)
n.1691G>C
c.*1641G>C (n.*1641G>C)
c.1581G>C (p.Ala527=)
c.1635G>C (p.Ala545=)
c.97-6087G>C
c.324G>C (p.Ala108=)
n.122G>C
c.*957G>C (n.*957G>C)
c.122G>C
c.1665G>C (p.Ala555=)
c.1560G>C (p.Ala520=)
c.1551G>C (p.Ala517=)
c.1512G>C (p.Ala504=)
c.1458G>C (p.Ala486=)
c.1362G>C (p.Ala454=)
c.1332G>C (p.Ala444=)
c.1257G>C (p.Ala419=)
c.1155G>C (p.Ala385=)
c.786G>C (p.Ala262=)
 dbSNP
5g.112828864G>TCA445757373APCc.1409-6087G>T (n.1409-6087G>T)
c.1689G>T (p.Ala563=)
n.1691G>T
c.*1641G>T (n.*1641G>T)
c.1581G>T (p.Ala527=)
c.1635G>T (p.Ala545=)
c.97-6087G>T
c.324G>T (p.Ala108=)
n.122G>T
c.*957G>T (n.*957G>T)
c.122G>T
c.1665G>T (p.Ala555=)
c.1560G>T (p.Ala520=)
c.1551G>T (p.Ala517=)
c.1512G>T (p.Ala504=)
c.1458G>T (p.Ala486=)
c.1362G>T (p.Ala454=)
c.1332G>T (p.Ala444=)
c.1257G>T (p.Ala419=)
c.1155G>T (p.Ala385=)
c.786G>T (p.Ala262=)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched