| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128261743G>A | CA3393845 | FBN2 | c.8357C>T (p.Pro2786Leu) c.8354C>T (p.Pro2785Leu) c.8204C>T (p.Pro2735Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128261743G>C | CA360747015 | FBN2 | c.8357C>G (p.Pro2786Arg) c.8354C>G (p.Pro2785Arg) c.8204C>G (p.Pro2735Arg) | |
| 5 | g.128261743G= | CA1581234808 | FBN2 | c.8357C= (p.Pro2786=) c.8354C= (p.Pro2785=) c.8204C= (p.Pro2735=) | |
| 5 | g.128261743G>T | CA360747016 | FBN2 | c.8357C>A (p.Pro2786His) c.8354C>A (p.Pro2785His) c.8204C>A (p.Pro2735His) | |
| 5 | g.128261744G>A | CA3393846 | FBN2 | c.8356C>T (p.Pro2786Ser) c.8353C>T (p.Pro2785Ser) c.8203C>T (p.Pro2735Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128261744G>C | CA360747021 | FBN2 | c.8356C>G (p.Pro2786Ala) c.8353C>G (p.Pro2785Ala) c.8203C>G (p.Pro2735Ala) | |
| 5 | g.128261744G= | CA1581234809 | FBN2 | c.8356C= (p.Pro2786=) c.8353C= (p.Pro2785=) c.8203C= (p.Pro2735=) | |
| 5 | g.128261744G>T | CA360747024 | FBN2 | c.8356C>A (p.Pro2786Thr) c.8353C>A (p.Pro2785Thr) c.8203C>A (p.Pro2735Thr) | gnomAD v4 |
| 5 | g.128261745A>C | CA360747026 | FBN2 | c.8355T>G (p.Asp2785Glu) c.8352T>G (p.Asp2784Glu) c.8202T>G (p.Asp2734Glu) | |
| 5 | g.128261745A>G | CA446305639 | FBN2 | c.8355T>C (p.Asp2785=) c.8352T>C (p.Asp2784=) c.8202T>C (p.Asp2734=) | |
| 5 | g.128261745A>T | CA360747041 | FBN2 | c.8355T>A (p.Asp2785Glu) c.8352T>A (p.Asp2784Glu) c.8202T>A (p.Asp2734Glu) | |
| 5 | g.128261746T>A | CA360747044 | FBN2 | c.8354A>T (p.Asp2785Val) c.8351A>T (p.Asp2784Val) c.8201A>T (p.Asp2734Val) | |
| 5 | g.128261746T>C | CA360747046 | FBN2 | c.8354A>G (p.Asp2785Gly) c.8351A>G (p.Asp2784Gly) c.8201A>G (p.Asp2734Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128261746T>G | CA360747048 | FBN2 | c.8354A>C (p.Asp2785Ala) c.8351A>C (p.Asp2784Ala) c.8201A>C (p.Asp2734Ala) | |
| 5 | g.128261746T= | CA1581234810 | FBN2 | c.8354A= (p.Asp2785=) c.8351A= (p.Asp2784=) c.8201A= (p.Asp2734=) | |
| 5 | g.128261747C>A | CA360747055 | FBN2 | c.8353G>T (p.Asp2785Tyr) c.8350G>T (p.Asp2784Tyr) c.8200G>T (p.Asp2734Tyr) | |
| 5 | g.128261747C>G | CA360747053 | FBN2 | c.8353G>C (p.Asp2785His) c.8350G>C (p.Asp2784His) c.8200G>C (p.Asp2734His) | |
| 5 | g.128261747C>T | CA360747050 | FBN2 | c.8353G>A (p.Asp2785Asn) c.8350G>A (p.Asp2784Asn) c.8200G>A (p.Asp2734Asn) | |
| 5 | g.128261748A>C | CA446305640 | FBN2 | c.8352T>G (p.Pro2784=) c.8349T>G (p.Pro2783=) c.8199T>G (p.Pro2733=) | |
| 5 | g.128261748A>G | CA446305641 | FBN2 | c.8352T>C (p.Pro2784=) c.8349T>C (p.Pro2783=) c.8199T>C (p.Pro2733=) | |
| 5 | g.128261748A>T | CA446305642 | FBN2 | c.8352T>A (p.Pro2784=) c.8349T>A (p.Pro2783=) c.8199T>A (p.Pro2733=) | |
| 5 | g.128261749G>A | CA3393847 | FBN2 | c.8351C>T (p.Pro2784Leu) c.8348C>T (p.Pro2783Leu) c.8198C>T (p.Pro2733Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128261749G>C | CA360747059 | FBN2 | c.8351C>G (p.Pro2784Arg) c.8348C>G (p.Pro2783Arg) c.8198C>G (p.Pro2733Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128261749G= | CA1581234811 | FBN2 | c.8351C= (p.Pro2784=) c.8348C= (p.Pro2783=) c.8198C= (p.Pro2733=) | |
| 5 | g.128261749G>T | CA360747061 | FBN2 | c.8351C>A (p.Pro2784His) c.8348C>A (p.Pro2783His) c.8198C>A (p.Pro2733His) | |
| 5 | g.128261750G>A | CA360747064 | FBN2 | c.8350C>T (p.Pro2784Ser) c.8347C>T (p.Pro2783Ser) c.8197C>T (p.Pro2733Ser) | gnomAD v4 |
| 5 | g.128261750G>C | CA360747066 | FBN2 | c.8350C>G (p.Pro2784Ala) c.8347C>G (p.Pro2783Ala) c.8197C>G (p.Pro2733Ala) | |
| 5 | g.128261750G>T | CA360747067 | FBN2 | c.8350C>A (p.Pro2784Thr) c.8347C>A (p.Pro2783Thr) c.8197C>A (p.Pro2733Thr) | gnomAD v4 |
| 5 | g.128261751T>A | CA360747068 | FBN2 | c.8349A>T (p.Glu2783Asp) c.8346A>T (p.Glu2782Asp) c.8196A>T (p.Glu2732Asp) | |
| 5 | g.128261751T>C | CA3393848 | FBN2 | c.8349A>G (p.Glu2783=) c.8346A>G (p.Glu2782=) c.8196A>G (p.Glu2732=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128261751T>G | CA360747073 | FBN2 | c.8349A>C (p.Glu2783Asp) c.8346A>C (p.Glu2782Asp) c.8196A>C (p.Glu2732Asp) | |
| 5 | g.128261751T= | CA1581234812 | FBN2 | c.8349A= (p.Glu2783=) c.8346A= (p.Glu2782=) c.8196A= (p.Glu2732=) | |
| 5 | g.128261752T>A | CA360747075 | FBN2 | c.8348A>T (p.Glu2783Val) c.8345A>T (p.Glu2782Val) c.8195A>T (p.Glu2732Val) | |
| 5 | g.128261752T>C | CA360747077 | FBN2 | c.8348A>G (p.Glu2783Gly) c.8345A>G (p.Glu2782Gly) c.8195A>G (p.Glu2732Gly) | |
| 5 | g.128261752T>G | CA360747079 | FBN2 | c.8348A>C (p.Glu2783Ala) c.8345A>C (p.Glu2782Ala) c.8195A>C (p.Glu2732Ala) | |
| 5 | g.128261753C>A | CA360747085 | FBN2 | c.8347G>T (p.Glu2783Ter) c.8344G>T (p.Glu2782Ter) c.8194G>T (p.Glu2732Ter) | |
| 5 | g.128261753C= | CA1581234813 | FBN2 | c.8347G= (p.Glu2783=) c.8344G= (p.Glu2782=) c.8194G= (p.Glu2732=) | |
| 5 | g.128261753C>G | CA288845 | FBN2 | c.8347G>C (p.Glu2783Gln) c.8344G>C (p.Glu2782Gln) c.8194G>C (p.Glu2732Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128261753C>T | CA360747081 | FBN2 | c.8347G>A (p.Glu2783Lys) c.8344G>A (p.Glu2782Lys) c.8194G>A (p.Glu2732Lys) | gnomAD v4 |
| 5 | g.128261754A= | CA1581234814 | FBN2 | c.8346T= (p.His2782=) c.8343T= (p.His2781=) c.8193T= (p.His2731=) | |
| 5 | g.128261754A>C | CA360747088 | FBN2 | c.8346T>G (p.His2782Gln) c.8343T>G (p.His2781Gln) c.8193T>G (p.His2731Gln) | |
| 5 | g.128261754A>G | CA446305643 | FBN2 | c.8346T>C (p.His2782=) c.8343T>C (p.His2781=) c.8193T>C (p.His2731=) | |
| 5 | g.128261754A>T | CA360747090 | FBN2 | c.8346T>A (p.His2782Gln) c.8343T>A (p.His2781Gln) c.8193T>A (p.His2731Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128261755T>A | CA360747092 | FBN2 | c.8345A>T (p.His2782Leu) c.8342A>T (p.His2781Leu) c.8192A>T (p.His2731Leu) | gnomAD v4 |
| 5 | g.128261755T>C | CA360747093 | FBN2 | c.8345A>G (p.His2782Arg) c.8342A>G (p.His2781Arg) c.8192A>G (p.His2731Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128261755T>G | CA360747094 | FBN2 | c.8345A>C (p.His2782Pro) c.8342A>C (p.His2781Pro) c.8192A>C (p.His2731Pro) | |
| 5 | g.128261755T= | CA1581234815 | FBN2 | c.8345A= (p.His2782=) c.8342A= (p.His2781=) c.8192A= (p.His2731=) | |
| 5 | g.128261756G>A | CA320086 | FBN2 | c.8344C>T (p.His2782Tyr) c.8341C>T (p.His2781Tyr) c.8191C>T (p.His2731Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128261756G>C | CA360747100 | FBN2 | c.8344C>G (p.His2782Asp) c.8341C>G (p.His2781Asp) c.8191C>G (p.His2731Asp) | |
| 5 | g.128261756G= | CA1581234816 | FBN2 | c.8344C= (p.His2782=) c.8341C= (p.His2781=) c.8191C= (p.His2731=) |