Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48610768dup | CA2695220685 | FBN1 | c.308dup (p.Ser104IlefsTer25) | |
15 | g.48610768G>A | CA013747 | FBN1 | c.306C>T (p.Cys102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48610768G>C | CA392446956 | FBN1 | c.306C>G (p.Cys102Trp) | ClinVar |
15 | g.48610768G= | CA2175573522 | FBN1 | c.306C= (p.Cys102=) | |
15 | g.48610768G>T | CA16607112 | FBN1 | c.306C>A (p.Cys102Ter) | ClinVar dbSNP |
15 | g.48610768_48610769delinsGC | CA2175573523 | FBN1 | c.305_306delinsGC (p.Cys102=) | |
15 | g.48610768_48610769delinsTT | CA658825075 | FBN1 | c.305_306delinsAA (p.Cys102Ter) | ClinVar dbSNP |
15 | g.48610769C>A | CA013737 | FBN1 | c.305G>T (p.Cys102Phe) | ClinVar dbSNP |
15 | g.48610769C= | CA2175573524 | FBN1 | c.305G= (p.Cys102=) | |
15 | g.48610769C>G | CA392446959 | FBN1 | c.305G>C (p.Cys102Ser) | ClinVar dbSNP |
15 | g.48610769C>T | CA392446961 | FBN1 | c.305G>A (p.Cys102Tyr) | ClinVar dbSNP |
15 | g.48610770A= | CA2175573525 | FBN1 | c.304T= (p.Cys102=) | |
15 | g.48610770A>C | CA392446964 | FBN1 | c.304T>G (p.Cys102Gly) | |
15 | g.48610770A>G | CA392446965 | FBN1 | c.304T>C (p.Cys102Arg) | ClinVar dbSNP |
15 | g.48610770A>T | CA392446967 | FBN1 | c.304T>A (p.Cys102Ser) | |
15 | g.48610771A= | CA2175573526 | FBN1 | c.303T= (p.Thr101=) | |
15 | g.48610771A>C | CA490090209 | FBN1 | c.303T>G (p.Thr101=) | |
15 | g.48610771A>G | CA490090210 | FBN1 | c.303T>C (p.Thr101=) | dbSNP gnomAD v2 |
15 | g.48610771A>T | CA490090211 | FBN1 | c.303T>A (p.Thr101=) | |
15 | g.48610772G>A | CA049603 | FBN1 | c.302C>T (p.Thr101Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48610772G>C | CA392446970 | FBN1 | c.302C>G (p.Thr101Ser) | |
15 | g.48610772G= | CA2175573527 | FBN1 | c.302C= (p.Thr101=) | |
15 | g.48610772G>T | CA392446971 | FBN1 | c.302C>A (p.Thr101Asn) | |
15 | g.48610773T>A | CA392446973 | FBN1 | c.301A>T (p.Thr101Ser) | ClinVar |
15 | g.48610773T>C | CA392446977 | FBN1 | c.301A>G (p.Thr101Ala) | |
15 | g.48610773T>G | CA392446975 | FBN1 | c.301A>C (p.Thr101Pro) | |
15 | g.48610774G>A | CA013631 | FBN1 | c.300C>T (p.Cys100=) | ClinVar dbSNP |
15 | g.48610774G>C | CA392446979 | FBN1 | c.300C>G (p.Cys100Trp) | |
15 | g.48610774G= | CA2175573528 | FBN1 | c.300C= (p.Cys100=) | |
15 | g.48610774G>T | CA392446981 | FBN1 | c.300C>A (p.Cys100Ter) | ClinVar dbSNP |
15 | g.48610775C>A | CA013619 | FBN1 | c.299G>T (p.Cys100Phe) | ClinVar dbSNP |
15 | g.48610775C= | CA2175573529 | FBN1 | c.299G= (p.Cys100=) | |
15 | g.48610775C>G | CA392446983 | FBN1 | c.299G>C (p.Cys100Ser) | |
15 | g.48610775C>T | CA10576993 | FBN1 | c.299G>A (p.Cys100Tyr) | ClinVar dbSNP |
15 | g.48610776A= | CA2175573530 | FBN1 | c.298T= (p.Cys100=) | |
15 | g.48610776A>C | CA392446986 | FBN1 | c.298T>G (p.Cys100Gly) | |
15 | g.48610776A>G | CA392446988 | FBN1 | c.298T>C (p.Cys100Arg) | ClinVar dbSNP |
15 | g.48610776A>T | CA392446990 | FBN1 | c.298T>A (p.Cys100Ser) | |
15 | g.48610777C>A | CA392446992 | FBN1 | c.297G>T (p.Met99Ile) | |
15 | g.48610777C= | CA2175573531 | FBN1 | c.297G= (p.Met99=) | |
15 | g.48610777C>G | CA392446994 | FBN1 | c.297G>C (p.Met99Ile) | |
15 | g.48610777C>T | CA392446996 | FBN1 | c.297G>A (p.Met99Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
15 | g.48610778A>C | CA392446998 | FBN1 | c.296T>G (p.Met99Arg) | |
15 | g.48610778A>G | CA392447002 | FBN1 | c.296T>C (p.Met99Thr) | |
15 | g.48610778A>T | CA392447000 | FBN1 | c.296T>A (p.Met99Lys) | |
15 | g.48610779T>A | CA392447004 | FBN1 | c.295A>T (p.Met99Leu) | |
15 | g.48610779T>C | CA392447006 | FBN1 | c.295A>G (p.Met99Val) | gnomAD v4 |
15 | g.48610779T>G | CA392447008 | FBN1 | c.295A>C (p.Met99Leu) | |
15 | g.48610779dup | CA2695220687 | FBN1 | c.295dup (p.Met99AsnfsTer30) | |
15 | g.48610780A>C | CA392447009 | FBN1 | c.294T>G (p.Asn98Lys) |