Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47800616T>CCA010638FBXO11,MSH6c.2336T>C (p.Val779Ala)
c.2633T>C (p.Val878Ala)
n.2717T>C
c.1606+1027T>C (n.1606+1027T>C)
c.2639T>C (p.Val880Ala)
c.628-2804T>C (n.628-2804T>C)
c.1790T>C (p.Val597Ala)
c.2243T>C (p.Val748Ala)
c.169+7579A>G (n.169+7579A>G)
c.*124+7378A>G (n.*124+7378A>G)
c.*1980T>C (n.*1980T>C)
c.1727T>C (p.Val576Ala)
c.2630T>C (p.Val877Ala)
c.-464T>C (n.-464T>C)
c.2450T>C (p.Val817Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47800616T>ACA346755084FBXO11,MSH6c.2336T>A (p.Val779Asp)
c.2633T>A (p.Val878Asp)
n.2717T>A
c.1606+1027T>A (n.1606+1027T>A)
c.2639T>A (p.Val880Asp)
c.628-2804T>A (n.628-2804T>A)
c.1790T>A (p.Val597Asp)
c.2243T>A (p.Val748Asp)
c.169+7579A>T (n.169+7579A>T)
c.*124+7378A>T (n.*124+7378A>T)
c.*1980T>A (n.*1980T>A)
c.1727T>A (p.Val576Asp)
c.2630T>A (p.Val877Asp)
c.-464T>A (n.-464T>A)
c.2450T>A (p.Val817Asp)
 dbSNP
2g.47800616T>GCA010648FBXO11,MSH6c.2336T>G (p.Val779Gly)
c.2633T>G (p.Val878Gly)
n.2717T>G
c.1606+1027T>G (n.1606+1027T>G)
c.2639T>G (p.Val880Gly)
c.628-2804T>G (n.628-2804T>G)
c.1790T>G (p.Val597Gly)
c.2243T>G (p.Val748Gly)
c.169+7579A>C (n.169+7579A>C)
c.*124+7378A>C (n.*124+7378A>C)
c.*1980T>G (n.*1980T>G)
c.1727T>G (p.Val576Gly)
c.2630T>G (p.Val877Gly)
c.-464T>G (n.-464T>G)
c.2450T>G (p.Val817Gly)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched