| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 5 | g.128261857T>C | CA360747859 | FBN2 | c.8243A>G (p.Asp2748Gly) c.8240A>G (p.Asp2747Gly) c.8090A>G (p.Asp2697Gly) | |
| 5 | g.128261857T>G | CA360747866 | FBN2 | c.8243A>C (p.Asp2748Ala) c.8240A>C (p.Asp2747Ala) c.8090A>C (p.Asp2697Ala) | |
| 5 | g.128261858C>A | CA360747870 | FBN2 | c.8242G>T (p.Asp2748Tyr) c.8239G>T (p.Asp2747Tyr) c.8089G>T (p.Asp2697Tyr) | |
| 5 | g.128261858C>G | CA360747874 | FBN2 | c.8242G>C (p.Asp2748His) c.8239G>C (p.Asp2747His) c.8089G>C (p.Asp2697His) | |
| 5 | g.128261858C>T | CA360747879 | FBN2 | c.8242G>A (p.Asp2748Asn) c.8239G>A (p.Asp2747Asn) c.8089G>A (p.Asp2697Asn) | COSMIC COSMIC |
| 5 | g.128261859C>A | CA446305691 | FBN2 | c.8241G>T (p.Leu2747=) c.8238G>T (p.Leu2746=) c.8088G>T (p.Leu2696=) | gnomAD v4 |
| 5 | g.128261859C= | CA1581234867 | FBN2 | c.8241G= (p.Leu2747=) c.8238G= (p.Leu2746=) c.8088G= (p.Leu2696=) | |
| 5 | g.128261859C>G | CA446305692 | FBN2 | c.8241G>C (p.Leu2747=) c.8238G>C (p.Leu2746=) c.8088G>C (p.Leu2696=) | |
| 5 | g.128261859C>T | CA3393869 | FBN2 | c.8241G>A (p.Leu2747=) c.8238G>A (p.Leu2746=) c.8088G>A (p.Leu2696=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128261860A>C | CA360747886 | FBN2 | c.8240T>G (p.Leu2747Arg) c.8237T>G (p.Leu2746Arg) c.8087T>G (p.Leu2696Arg) | |
| 5 | g.128261860A>G | CA360747888 | FBN2 | c.8240T>C (p.Leu2747Pro) c.8237T>C (p.Leu2746Pro) c.8087T>C (p.Leu2696Pro) | |
| 5 | g.128261860A>T | CA360747892 | FBN2 | c.8240T>A (p.Leu2747Gln) c.8237T>A (p.Leu2746Gln) c.8087T>A (p.Leu2696Gln) | |
| 5 | g.128261861G>A | CA446305693 | FBN2 | c.8239C>T (p.Leu2747=) c.8236C>T (p.Leu2746=) c.8086C>T (p.Leu2696=) | |
| 5 | g.128261861G>C | CA320216 | FBN2 | c.8239C>G (p.Leu2747Val) c.8236C>G (p.Leu2746Val) c.8086C>G (p.Leu2696Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |