| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128261843C>A | CA360747739 | FBN2 | c.8257G>T (p.Glu2753Ter) c.8254G>T (p.Glu2752Ter) c.8104G>T (p.Glu2702Ter) | gnomAD v4 |
| 5 | g.128261843C= | CA1581234860 | FBN2 | c.8257G= (p.Glu2753=) c.8254G= (p.Glu2752=) c.8104G= (p.Glu2702=) | |
| 5 | g.128261843C>G | CA360747743 | FBN2 | c.8257G>C (p.Glu2753Gln) c.8254G>C (p.Glu2752Gln) c.8104G>C (p.Glu2702Gln) | |
| 5 | g.128261843C>T | CA323462 | FBN2 | c.8257G>A (p.Glu2753Lys) c.8254G>A (p.Glu2752Lys) c.8104G>A (p.Glu2702Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128261844A>C | CA360747747 | FBN2 | c.8256T>G (p.Asp2752Glu) c.8253T>G (p.Asp2751Glu) c.8103T>G (p.Asp2701Glu) | |
| 5 | g.128261844A>G | CA446305684 | FBN2 | c.8256T>C (p.Asp2752=) c.8253T>C (p.Asp2751=) c.8103T>C (p.Asp2701=) | |
| 5 | g.128261844A>T | CA360747750 | FBN2 | c.8256T>A (p.Asp2752Glu) c.8253T>A (p.Asp2751Glu) c.8103T>A (p.Asp2701Glu) | |
| 5 | g.128261845T>A | CA360747756 | FBN2 | c.8255A>T (p.Asp2752Val) c.8252A>T (p.Asp2751Val) c.8102A>T (p.Asp2701Val) | |
| 5 | g.128261845T>C | CA360747759 | FBN2 | c.8255A>G (p.Asp2752Gly) c.8252A>G (p.Asp2751Gly) c.8102A>G (p.Asp2701Gly) | gnomAD v4 |
| 5 | g.128261845T>G | CA360747763 | FBN2 | c.8255A>C (p.Asp2752Ala) c.8252A>C (p.Asp2751Ala) c.8102A>C (p.Asp2701Ala) | |
| 5 | g.128261846C>A | CA360747766 | FBN2 | c.8254G>T (p.Asp2752Tyr) c.8251G>T (p.Asp2751Tyr) c.8101G>T (p.Asp2701Tyr) | |
| 5 | g.128261846C= | CA1581234861 | FBN2 | c.8254G= (p.Asp2752=) c.8251G= (p.Asp2751=) c.8101G= (p.Asp2701=) | |
| 5 | g.128261846C>G | CA360747771 | FBN2 | c.8254G>C (p.Asp2752His) c.8251G>C (p.Asp2751His) c.8101G>C (p.Asp2701His) | |
| 5 | g.128261846C>T | CA3393865 | FBN2 | c.8254G>A (p.Asp2752Asn) c.8251G>A (p.Asp2751Asn) c.8101G>A (p.Asp2701Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128261847G>A | CA3393866 | FBN2 | c.8253C>T (p.Val2751=) c.8250C>T (p.Val2750=) c.8100C>T (p.Val2700=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128261847G>C | CA446305685 | FBN2 | c.8253C>G (p.Val2751=) c.8250C>G (p.Val2750=) c.8100C>G (p.Val2700=) | |
| 5 | g.128261847G= | CA1581234862 | FBN2 | c.8253C= (p.Val2751=) c.8250C= (p.Val2750=) c.8100C= (p.Val2700=) | |
| 5 | g.128261847G>T | CA446305686 | FBN2 | c.8253C>A (p.Val2751=) c.8250C>A (p.Val2750=) c.8100C>A (p.Val2700=) | gnomAD v4 |
| 5 | g.128261848A= | CA1581234863 | FBN2 | c.8252T= (p.Val2751=) c.8249T= (p.Val2750=) c.8099T= (p.Val2700=) | |
| 5 | g.128261848A>C | CA360747788 | FBN2 | c.8252T>G (p.Val2751Gly) c.8249T>G (p.Val2750Gly) c.8099T>G (p.Val2700Gly) | dbSNP |
| 5 | g.128261848A>G | CA360747783 | FBN2 | c.8252T>C (p.Val2751Ala) c.8249T>C (p.Val2750Ala) c.8099T>C (p.Val2700Ala) | |
| 5 | g.128261848A>T | CA360747787 | FBN2 | c.8252T>A (p.Val2751Asp) c.8249T>A (p.Val2750Asp) c.8099T>A (p.Val2700Asp) | |
| 5 | g.128261849C>A | CA3393867 | FBN2 | c.8251G>T (p.Val2751Phe) c.8248G>T (p.Val2750Phe) c.8098G>T (p.Val2700Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128261849C= | CA1581234864 | FBN2 | c.8251G= (p.Val2751=) c.8248G= (p.Val2750=) c.8098G= (p.Val2700=) | |
| 5 | g.128261849C>G | CA360747789 | FBN2 | c.8251G>C (p.Val2751Leu) c.8248G>C (p.Val2750Leu) c.8098G>C (p.Val2700Leu) | |
| 5 | g.128261849C>T | CA3393868 | FBN2 | c.8251G>A (p.Val2751Ile) c.8248G>A (p.Val2750Ile) c.8098G>A (p.Val2700Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128261850C>A | CA360747798 | FBN2 | c.8250G>T (p.Glu2750Asp) c.8247G>T (p.Glu2749Asp) c.8097G>T (p.Glu2699Asp) | |
| 5 | g.128261850C>G | CA360747802 | FBN2 | c.8250G>C (p.Glu2750Asp) c.8247G>C (p.Glu2749Asp) c.8097G>C (p.Glu2699Asp) | |
| 5 | g.128261850C>T | CA446305687 | FBN2 | c.8250G>A (p.Glu2750=) c.8247G>A (p.Glu2749=) c.8097G>A (p.Glu2699=) | gnomAD v4 |
| 5 | g.128261851T>A | CA360747806 | FBN2 | c.8249A>T (p.Glu2750Val) c.8246A>T (p.Glu2749Val) c.8096A>T (p.Glu2699Val) | gnomAD v4 |
| 5 | g.128261851T>C | CA360747809 | FBN2 | c.8249A>G (p.Glu2750Gly) c.8246A>G (p.Glu2749Gly) c.8096A>G (p.Glu2699Gly) | |
| 5 | g.128261851T>G | CA360747813 | FBN2 | c.8249A>C (p.Glu2750Ala) c.8246A>C (p.Glu2749Ala) c.8096A>C (p.Glu2699Ala) | |
| 5 | g.128261852C>A | CA360747817 | FBN2 | c.8248G>T (p.Glu2750Ter) c.8245G>T (p.Glu2749Ter) c.8095G>T (p.Glu2699Ter) | |
| 5 | g.128261852C>G | CA360747818 | FBN2 | c.8248G>C (p.Glu2750Gln) c.8245G>C (p.Glu2749Gln) c.8095G>C (p.Glu2699Gln) | |
| 5 | g.128261852C>T | CA360747819 | FBN2 | c.8248G>A (p.Glu2750Lys) c.8245G>A (p.Glu2749Lys) c.8095G>A (p.Glu2699Lys) | |
| 5 | g.128261853T>A | CA446305688 | FBN2 | c.8247A>T (p.Thr2749=) c.8244A>T (p.Thr2748=) c.8094A>T (p.Thr2698=) | |
| 5 | g.128261853T>C | CA211158 | FBN2 | c.8247A>G (p.Thr2749=) c.8244A>G (p.Thr2748=) c.8094A>G (p.Thr2698=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128261853T>G | CA446305689 | FBN2 | c.8247A>C (p.Thr2749=) c.8244A>C (p.Thr2748=) c.8094A>C (p.Thr2698=) | |
| 5 | g.128261853T= | CA1581234865 | FBN2 | c.8247A= (p.Thr2749=) c.8244A= (p.Thr2748=) c.8094A= (p.Thr2698=) | |
| 5 | g.128261854G>A | CA360747823 | FBN2 | c.8246C>T (p.Thr2749Ile) c.8243C>T (p.Thr2748Ile) c.8093C>T (p.Thr2698Ile) | |
| 5 | g.128261854G>C | CA360747829 | FBN2 | c.8246C>G (p.Thr2749Arg) c.8243C>G (p.Thr2748Arg) c.8093C>G (p.Thr2698Arg) | |
| 5 | g.128261854G>T | CA360747821 | FBN2 | c.8246C>A (p.Thr2749Lys) c.8243C>A (p.Thr2748Lys) c.8093C>A (p.Thr2698Lys) | |
| 5 | g.128261855T>A | CA360747844 | FBN2 | c.8245A>T (p.Thr2749Ser) c.8242A>T (p.Thr2748Ser) c.8092A>T (p.Thr2698Ser) | |
| 5 | g.128261855T>C | CA360747834 | FBN2 | c.8245A>G (p.Thr2749Ala) c.8242A>G (p.Thr2748Ala) c.8092A>G (p.Thr2698Ala) | gnomAD v4 |
| 5 | g.128261855T>G | CA360747841 | FBN2 | c.8245A>C (p.Thr2749Pro) c.8242A>C (p.Thr2748Pro) c.8092A>C (p.Thr2698Pro) | |
| 5 | g.128261856A= | CA1581234866 | FBN2 | c.8244T= (p.Asp2748=) c.8241T= (p.Asp2747=) c.8091T= (p.Asp2697=) | |
| 5 | g.128261856A>C | CA360747849 | FBN2 | c.8244T>G (p.Asp2748Glu) c.8241T>G (p.Asp2747Glu) c.8091T>G (p.Asp2697Glu) | |
| 5 | g.128261856A>G | CA446305690 | FBN2 | c.8244T>C (p.Asp2748=) c.8241T>C (p.Asp2747=) c.8091T>C (p.Asp2697=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128261856A>T | CA360747854 | FBN2 | c.8244T>A (p.Asp2748Glu) c.8241T>A (p.Asp2747Glu) c.8091T>A (p.Asp2697Glu) | |
| 5 | g.128261857T>A | CA360747856 | FBN2 | c.8243A>T (p.Asp2748Val) c.8240A>T (p.Asp2747Val) c.8090A>T (p.Asp2697Val) |