Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48537616C>A | CA392445790 | FBN1 | c.731G>T (p.Cys244Phe) c.636+95G>T (n.636+95G>T) | |
15 | g.48537616C>G | CA392445791 | FBN1 | c.731G>C (p.Cys244Ser) c.636+95G>C (n.636+95G>C) | |
15 | g.48537616C>T | CA392445792 | FBN1 | c.731G>A (p.Cys244Tyr) c.636+95G>A (n.636+95G>A) | |
15 | g.48537617A>C | CA392445793 | FBN1 | c.730T>G (p.Cys244Gly) c.636+94T>G (n.636+94T>G) | |
15 | g.48537617A>G | CA392445794 | FBN1 | c.730T>C (p.Cys244Arg) c.636+94T>C (n.636+94T>C) | |
15 | g.48537617A>T | CA392445795 | FBN1 | c.730T>A (p.Cys244Ser) c.636+94T>A (n.636+94T>A) | |
15 | g.48537618A>C | CA490089978 | FBN1 | c.729T>G (p.Ala243=) c.636+93T>G (n.636+93T>G) | |
15 | g.48537618A>G | CA490089981 | FBN1 | c.729T>C (p.Ala243=) c.636+93T>C (n.636+93T>C) | |
15 | g.48537618A>T | CA490089979 | FBN1 | c.729T>A (p.Ala243=) c.636+93T>A (n.636+93T>A) | |
15 | g.48537619G>A | CA392445796 | FBN1 | c.728C>T (p.Ala243Val) c.636+92C>T (n.636+92C>T) | dbSNP |
15 | g.48537619G>C | CA392445797 | FBN1 | c.728C>G (p.Ala243Gly) c.636+92C>G (n.636+92C>G) | |
15 | g.48537619G= | CA2175539348 | FBN1 | c.728C= (p.Ala243=) c.636+92C= (n.636+92C=) | |
15 | g.48537619G>T | CA392445798 | FBN1 | c.728C>A (p.Ala243Asp) c.636+92C>A (n.636+92C>A) | |
15 | g.48537620C>A | CA392445801 | FBN1 | c.727G>T (p.Ala243Ser) c.636+91G>T (n.636+91G>T) | |
15 | g.48537620C>G | CA392445800 | FBN1 | c.727G>C (p.Ala243Pro) c.636+91G>C (n.636+91G>C) | |
15 | g.48537620C>T | CA392445799 | FBN1 | c.727G>A (p.Ala243Thr) c.636+91G>A (n.636+91G>A) | |
15 | g.48537621T>A | CA490089985 | FBN1 | c.726A>T (p.Gly242=) c.636+90A>T (n.636+90A>T) | ClinVar |
15 | g.48537621T>C | CA490089986 | FBN1 | c.726A>G (p.Gly242=) c.636+90A>G (n.636+90A>G) | |
15 | g.48537621T>G | CA490089987 | FBN1 | c.726A>C (p.Gly242=) c.636+90A>C (n.636+90A>C) | gnomAD v4 |
15 | g.48537621_48537639dup | CA2573150825 | FBN1 | c.708_726dup (p.Ala243SerfsTer13) c.636+72_636+90dup (n.636+72_636+90dup) | ClinVar dbSNP |
15 | g.48537622C>A | CA392445802 | FBN1 | c.725G>T (p.Gly242Val) c.636+89G>T (n.636+89G>T) | |
15 | g.48537622C>G | CA392445803 | FBN1 | c.725G>C (p.Gly242Ala) c.636+89G>C (n.636+89G>C) | |
15 | g.48537622C>T | CA392445804 | FBN1 | c.725G>A (p.Gly242Glu) c.636+89G>A (n.636+89G>A) | |
15 | g.48537624del | CA2695220421 | FBN1 | c.725del (p.Gly242GlufsTer?) c.636+89del (n.636+89del) | |
15 | g.48537623C>A | CA392445805 | FBN1 | c.724G>T (p.Gly242Ter) c.636+88G>T (n.636+88G>T) | |
15 | g.48537623C>G | CA392445806 | FBN1 | c.724G>C (p.Gly242Arg) c.636+88G>C (n.636+88G>C) | |
15 | g.48537623C>T | CA392445807 | FBN1 | c.724G>A (p.Gly242Arg) c.636+88G>A (n.636+88G>A) | |
15 | g.48537624C>A | CA490089991 | FBN1 | c.723G>T (p.Thr241=) c.636+87G>T (n.636+87G>T) | |
15 | g.48537624C= | CA2175539349 | FBN1 | c.723G= (p.Thr241=) c.636+87G= (n.636+87G=) | |
15 | g.48537624C>G | CA058160 | FBN1 | c.723G>C (p.Thr241=) c.636+87G>C (n.636+87G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48537624C>T | CA058155 | FBN1 | c.723G>A (p.Thr241=) c.636+87G>A (n.636+87G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48537625G>A | CA017111 | FBN1 | c.722C>T (p.Thr241Met) c.636+86C>T (n.636+86C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48537625G>C | CA392445808 | FBN1 | c.722C>G (p.Thr241Arg) c.636+86C>G (n.636+86C>G) | gnomAD v4 |
15 | g.48537625G= | CA2175539350 | FBN1 | c.722C= (p.Thr241=) c.636+86C= (n.636+86C=) | |
15 | g.48537625G>T | CA058138 | FBN1 | c.722C>A (p.Thr241Lys) c.636+86C>A (n.636+86C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48537626T>A | CA392445811 | FBN1 | c.721A>T (p.Thr241Ser) c.636+85A>T (n.636+85A>T) | dbSNP gnomAD v4 |
15 | g.48537626T>C | CA392445810 | FBN1 | c.721A>G (p.Thr241Ala) c.636+85A>G (n.636+85A>G) | |
15 | g.48537626T>G | CA392445809 | FBN1 | c.721A>C (p.Thr241Pro) c.636+85A>C (n.636+85A>C) | |
15 | g.48537626T= | CA2175539351 | FBN1 | c.721A= (p.Thr241=) c.636+85A= (n.636+85A=) | |
15 | g.48537627G>A | CA490089993 | FBN1 | c.720C>T (p.Arg240=) c.636+84C>T (n.636+84C>T) | gnomAD v4 |
15 | g.48537627G>C | CA490089994 | FBN1 | c.720C>G (p.Arg240=) c.636+84C>G (n.636+84C>G) | |
15 | g.48537627G>T | CA490089995 | FBN1 | c.720C>A (p.Arg240=) c.636+84C>A (n.636+84C>A) | |
15 | g.48537628C>A | CA392445812 | FBN1 | c.719G>T (p.Arg240Leu) c.636+83G>T (n.636+83G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537628C= | CA2175539352 | FBN1 | c.719G= (p.Arg240=) c.636+83G= (n.636+83G=) | |
15 | g.48537628C>G | CA392445813 | FBN1 | c.719G>C (p.Arg240Pro) c.636+83G>C (n.636+83G>C) | ClinVar gnomAD v4 |
15 | g.48537628C>T | CA057995 | FBN1 | c.719G>A (p.Arg240His) c.636+83G>A (n.636+83G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48537629G>A | CA017067 | FBN1 | c.718C>T (p.Arg240Cys) c.636+82C>T (n.636+82C>T) | ClinVar dbSNP gnomAD v4 |
15 | g.48537629G>C | CA392445814 | FBN1 | c.718C>G (p.Arg240Gly) c.636+82C>G (n.636+82C>G) | |
15 | g.48537629G= | CA2175539353 | FBN1 | c.718C= (p.Arg240=) c.636+82C= (n.636+82C=) | |
15 | g.48537629G>T | CA392445815 | FBN1 | c.718C>A (p.Arg240Ser) c.636+82C>A (n.636+82C>A) | ClinVar dbSNP |