Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47800174C>ACA346751283FBXO11,MSH6c.1894C>A (p.Gln632Lys)
c.2191C>A (p.Gln731Lys)
n.2275C>A
c.1606+585C>A (n.1606+585C>A)
c.2197C>A (p.Gln733Lys)
c.628-3246C>A (n.628-3246C>A)
c.1348C>A (p.Gln450Lys)
c.1801C>A (p.Gln601Lys)
c.169+8021G>T (n.169+8021G>T)
c.*124+7820G>T (n.*124+7820G>T)
c.*1538C>A (n.*1538C>A)
c.1285C>A (p.Gln429Lys)
c.2188C>A (p.Gln730Lys)
c.-906C>A (n.-906C>A)
c.2008C>A (p.Gln670Lys)
 dbSNP
2g.47800174C>TCA009848FBXO11,MSH6c.1894C>T (p.Gln632Ter)
c.2191C>T (p.Gln731Ter)
n.2275C>T
c.1606+585C>T (n.1606+585C>T)
c.2197C>T (p.Gln733Ter)
c.628-3246C>T (n.628-3246C>T)
c.1348C>T (p.Gln450Ter)
c.1801C>T (p.Gln601Ter)
c.169+8021G>A (n.169+8021G>A)
c.*124+7820G>A (n.*124+7820G>A)
c.*1538C>T (n.*1538C>T)
c.1285C>T (p.Gln429Ter)
c.2188C>T (p.Gln730Ter)
c.-906C>T (n.-906C>T)
c.2008C>T (p.Gln670Ter)
 ClinVar dbSNP
2g.47800174C>GCA346751278FBXO11,MSH6c.1894C>G (p.Gln632Glu)
c.2191C>G (p.Gln731Glu)
n.2275C>G
c.1606+585C>G (n.1606+585C>G)
c.2197C>G (p.Gln733Glu)
c.628-3246C>G (n.628-3246C>G)
c.1348C>G (p.Gln450Glu)
c.1801C>G (p.Gln601Glu)
c.169+8021G>C (n.169+8021G>C)
c.*124+7820G>C (n.*124+7820G>C)
c.*1538C>G (n.*1538C>G)
c.1285C>G (p.Gln429Glu)
c.2188C>G (p.Gln730Glu)
c.-906C>G (n.-906C>G)
c.2008C>G (p.Gln670Glu)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched