| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48537610C>A | CA392445777 | FBN1 | c.736+1G>T (n.736+1G>T) c.636+101G>T (n.636+101G>T) | |
| 15 | g.48537610C= | CA2175539328 | FBN1 | c.736+1G= (n.736+1G=) c.636+101G= (n.636+101G=) | |
| 15 | g.48537610C>G | CA392445778 | FBN1 | c.736+1G>C (n.736+1G>C) c.636+101G>C (n.636+101G>C) | |
| 15 | g.48537610C>T | CA16619978 | FBN1 | c.736+1G>A (n.736+1G>A) c.636+101G>A (n.636+101G>A) | ClinVar dbSNP |
| 15 | g.48537611C>A | CA392445779 | FBN1 | c.736G>T (p.Asp246Tyr) c.636+100G>T (n.636+100G>T) | |
| 15 | g.48537611C= | CA2175539333 | FBN1 | c.736G= (p.Asp246=) c.636+100G= (n.636+100G=) | |
| 15 | g.48537611C>G | CA270013404 | FBN1 | c.736G>C (p.Asp246His) c.636+100G>C (n.636+100G>C) | dbSNP |
| 15 | g.48537611C>T | CA392445780 | FBN1 | c.736G>A (p.Asp246Asn) c.636+100G>A (n.636+100G>A) | |
| 15 | g.48537612T>A | CA392445781 | FBN1 | c.735A>T (p.Gln245His) c.636+99A>T (n.636+99A>T) | |
| 15 | g.48537612T>C | CA490089970 | FBN1 | c.735A>G (p.Gln245=) c.636+99A>G (n.636+99A>G) | |
| 15 | g.48537612T>G | CA392445782 | FBN1 | c.735A>C (p.Gln245His) c.636+99A>C (n.636+99A>C) | gnomAD v4 |
| 15 | g.48537613T>A | CA392445783 | FBN1 | c.734A>T (p.Gln245Leu) c.636+98A>T (n.636+98A>T) | |
| 15 | g.48537613T>C | CA392445785 | FBN1 | c.734A>G (p.Gln245Arg) c.636+98A>G (n.636+98A>G) | |
| 15 | g.48537613T>G | CA392445784 | FBN1 | c.734A>C (p.Gln245Pro) c.636+98A>C (n.636+98A>C) | ClinVar |
| 15 | g.48537614G>A | CA392445786 | FBN1 | c.733C>T (p.Gln245Ter) c.636+97C>T (n.636+97C>T) | ClinVar dbSNP |
| 15 | g.48537614G>C | CA392445788 | FBN1 | c.733C>G (p.Gln245Glu) c.636+97C>G (n.636+97C>G) | |
| 15 | g.48537614G= | CA2175539337 | FBN1 | c.733C= (p.Gln245=) c.636+97C= (n.636+97C=) | |
| 15 | g.48537614G>T | CA392445787 | FBN1 | c.733C>A (p.Gln245Lys) c.636+97C>A (n.636+97C>A) | |
| 15 | g.48537615A= | CA2175539343 | FBN1 | c.732T= (p.Cys244=) c.636+96T= (n.636+96T=) | |
| 15 | g.48537615A>C | CA392445789 | FBN1 | c.732T>G (p.Cys244Trp) c.636+96T>G (n.636+96T>G) | |
| 15 | g.48537615A>G | CA490089975 | FBN1 | c.732T>C (p.Cys244=) c.636+96T>C (n.636+96T>C) | |
| 15 | g.48537615A>T | CA10583254 | FBN1 | c.732T>A (p.Cys244Ter) c.636+96T>A (n.636+96T>A) | ClinVar dbSNP |
| 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) |