Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47806488C>ACA346761286FBXO11,MSH6c.3541C>A (p.Gln1181Lys)
c.3454C>A (p.Gln1152Lys)
n.4512C>A
c.2272C>A (p.Gln758Lys)
c.3844C>A (p.Gln1282Lys)
c.1293C>A (n.1293C>A)
c.2611C>A (p.Gln871Lys)
n.2689C>A
n.4996C>A
n.2433C>A
n.2100C>A
n.2502C>A
n.1247C>A
n.3132C>A
n.4260G>T
n.4522G>T
c.3838C>A (p.Gln1280Lys)
c.3448C>A (p.Gln1150Lys)
c.169+1707G>T (n.169+1707G>T)
c.*124+1506G>T (n.*124+1506G>T)
c.*3185C>A (n.*3185C>A)
c.2932C>A (p.Gln978Lys)
c.739C>A (p.Gln247Lys)
c.3655C>A (p.Gln1219Lys)
c.3931C>A (p.Gln1311Lys)
c.3748C>A (p.Gln1250Lys)
c.3634C>A (p.Gln1212Lys)
c.3025C>A (p.Gln1009Lys)
 dbSNP gnomAD v4
2g.47806488C>GCA346761287FBXO11,MSH6c.3541C>G (p.Gln1181Glu)
c.3454C>G (p.Gln1152Glu)
n.4512C>G
c.2272C>G (p.Gln758Glu)
c.3844C>G (p.Gln1282Glu)
c.1293C>G (n.1293C>G)
c.2611C>G (p.Gln871Glu)
n.2689C>G
n.4996C>G
n.2433C>G
n.2100C>G
n.2502C>G
n.1247C>G
n.3132C>G
n.4260G>C
n.4522G>C
c.3838C>G (p.Gln1280Glu)
c.3448C>G (p.Gln1150Glu)
c.169+1707G>C (n.169+1707G>C)
c.*124+1506G>C (n.*124+1506G>C)
c.*3185C>G (n.*3185C>G)
c.2932C>G (p.Gln978Glu)
c.739C>G (p.Gln247Glu)
c.3655C>G (p.Gln1219Glu)
c.3931C>G (p.Gln1311Glu)
c.3748C>G (p.Gln1250Glu)
c.3634C>G (p.Gln1212Glu)
c.3025C>G (p.Gln1009Glu)
 dbSNP
2g.47806488C>TCA014495FBXO11,MSH6c.3541C>T (p.Gln1181Ter)
c.3454C>T (p.Gln1152Ter)
n.4512C>T
c.2272C>T (p.Gln758Ter)
c.3844C>T (p.Gln1282Ter)
c.1293C>T (n.1293C>T)
c.2611C>T (p.Gln871Ter)
n.2689C>T
n.4996C>T
n.2433C>T
n.2100C>T
n.2502C>T
n.1247C>T
n.3132C>T
n.4260G>A
n.4522G>A
c.3838C>T (p.Gln1280Ter)
c.3448C>T (p.Gln1150Ter)
c.169+1707G>A (n.169+1707G>A)
c.*124+1506G>A (n.*124+1506G>A)
c.*3185C>T (n.*3185C>T)
c.2932C>T (p.Gln978Ter)
c.739C>T (p.Gln247Ter)
c.3655C>T (p.Gln1219Ter)
c.3931C>T (p.Gln1311Ter)
c.3748C>T (p.Gln1250Ter)
c.3634C>T (p.Gln1212Ter)
c.3025C>T (p.Gln1009Ter)
 ClinVar dbSNP

Number of alleles fetched