Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48537790_48537793delinsCATG | CA2175539603 | FBN1 | c.554_557delinsCATG (p.Pro185=) | |
15 | g.48537791A= | CA2175539615 | FBN1 | c.556T= (p.Cys186=) | |
15 | g.48537791A>C | CA392446165 | FBN1 | c.556T>G (p.Cys186Gly) | |
15 | g.48537791A>G | CA015898 | FBN1 | c.556T>C (p.Cys186Arg) | ClinVar dbSNP |
15 | g.48537791A>T | CA392446166 | FBN1 | c.556T>A (p.Cys186Ser) | |
15 | g.48537791_48537793del | CA658824889 | FBN1 | c.554_556del (p.Pro185_Cys186delinsArg) | ClinVar dbSNP |
15 | g.48537792T>A | CA490090213 | FBN1 | c.555A>T (p.Pro185=) | |
15 | g.48537792T>C | CA490090214 | FBN1 | c.555A>G (p.Pro185=) | ClinVar dbSNP gnomAD v4 |
15 | g.48537792T>G | CA490090215 | FBN1 | c.555A>C (p.Pro185=) | |
15 | g.48537792T= | CA2175539620 | FBN1 | c.555A= (p.Pro185=) | |
15 | g.48537793G>A | CA392446167 | FBN1 | c.554C>T (p.Pro185Leu) | ClinVar dbSNP gnomAD v4 |
15 | g.48537793G>C | CA392446169 | FBN1 | c.554C>G (p.Pro185Arg) | |
15 | g.48537793G= | CA2175539624 | FBN1 | c.554C= (p.Pro185=) | |
15 | g.48537793G>T | CA392446168 | FBN1 | c.554C>A (p.Pro185Gln) | |
15 | g.48537795del | CA2695220432 | FBN1 | c.554del (p.Pro185HisfsTer5) | |
15 | g.48537794G>A | CA392446170 | FBN1 | c.553C>T (p.Pro185Ser) | |
15 | g.48537794G>C | CA392446171 | FBN1 | c.553C>G (p.Pro185Ala) | |
15 | g.48537794G>T | CA392446172 | FBN1 | c.553C>A (p.Pro185Thr) | |
15 | g.48537795G>A | CA490090217 | FBN1 | c.552C>T (p.Gly184=) | |
15 | g.48537795G>C | CA490090218 | FBN1 | c.552C>G (p.Gly184=) | |
15 | g.48537795G= | CA2175539627 | FBN1 | c.552C= (p.Gly184=) | |
15 | g.48537795G>T | CA490090219 | FBN1 | c.552C>A (p.Gly184=) | ClinVar dbSNP gnomAD v4 |
15 | g.48537796C>A | CA392446173 | FBN1 | c.551G>T (p.Gly184Val) | |
15 | g.48537796C>G | CA392446174 | FBN1 | c.551G>C (p.Gly184Ala) | |
15 | g.48537796C>T | CA392446175 | FBN1 | c.551G>A (p.Gly184Asp) | |
15 | g.48537797del | CA2740096695 | FBN1 | c.551del (p.Gly184AlafsTer6) | ClinVar |
15 | g.48537797C>A | CA392446176 | FBN1 | c.550G>T (p.Gly184Cys) | |
15 | g.48537797C>G | CA392446177 | FBN1 | c.550G>C (p.Gly184Arg) | |
15 | g.48537797C>T | CA392446178 | FBN1 | c.550G>A (p.Gly184Ser) | |
15 | g.48537798T>A | CA490090224 | FBN1 | c.549A>T (p.Thr183=) | |
15 | g.48537798T>C | CA490090226 | FBN1 | c.549A>G (p.Thr183=) | |
15 | g.48537798T>G | CA490090225 | FBN1 | c.549A>C (p.Thr183=) | |
15 | g.48537799G>A | CA392446179 | FBN1 | c.548C>T (p.Thr183Ile) | gnomAD v4 |
15 | g.48537799G>C | CA392446180 | FBN1 | c.548C>G (p.Thr183Arg) | |
15 | g.48537799G>T | CA392446181 | FBN1 | c.548C>A (p.Thr183Lys) | COSMIC |
15 | g.48537800T>A | CA392446182 | FBN1 | c.547A>T (p.Thr183Ser) | |
15 | g.48537800T>C | CA392446184 | FBN1 | c.547A>G (p.Thr183Ala) | gnomAD v4 |
15 | g.48537800T>G | CA392446183 | FBN1 | c.547A>C (p.Thr183Pro) | |
15 | g.48537801C>A | CA392446185 | FBN1 | c.546G>T (p.Arg182Ser) | |
15 | g.48537801C>G | CA392446186 | FBN1 | c.546G>C (p.Arg182Ser) | gnomAD v4 |
15 | g.48537801C>T | CA490090230 | FBN1 | c.546G>A (p.Arg182=) | gnomAD v4 |
15 | g.48537802C>A | CA392446187 | FBN1 | c.545G>T (p.Arg182Met) | |
15 | g.48537802C= | CA2175539634 | FBN1 | c.545G= (p.Arg182=) | |
15 | g.48537802C>G | CA392446189 | FBN1 | c.545G>C (p.Arg182Thr) | |
15 | g.48537802C>T | CA392446188 | FBN1 | c.545G>A (p.Arg182Lys) | ClinVar dbSNP |
15 | g.48537803T>A | CA392446190 | FBN1 | c.544A>T (p.Arg182Trp) | |
15 | g.48537803T>C | CA392446191 | FBN1 | c.544A>G (p.Arg182Gly) | |
15 | g.48537803T>G | CA490090232 | FBN1 | c.544A>C (p.Arg182=) | |
15 | g.48537804G>A | CA490090233 | FBN1 | c.543C>T (p.Tyr181=) | ClinVar dbSNP |
15 | g.48537804G>C | CA392446192 | FBN1 | c.543C>G (p.Tyr181Ter) | ClinVar dbSNP |