| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128304952C= | CA1581255378 | FBN2 | n.2584+5G= n.2503+5G= c.5800+5G= (n.5800+5G=) c.5797+5G= (n.5797+5G=) c.5647+5G= (n.5647+5G=) | |
| 5 | g.128304952C>T | CA322014 | FBN2 | n.2584+5G>A n.2503+5G>A c.5800+5G>A (n.5800+5G>A) c.5797+5G>A (n.5797+5G>A) c.5647+5G>A (n.5647+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128304953T>C | CA2675114515 | FBN2 | n.2584+4A>G n.2503+4A>G c.5800+4A>G (n.5800+4A>G) c.5797+4A>G (n.5797+4A>G) c.5647+4A>G (n.5647+4A>G) | gnomAD v4 |
| 5 | g.128304955A>C | CA360739667 | FBN2 | n.2584+2T>G n.2503+2T>G c.5800+2T>G (n.5800+2T>G) c.5797+2T>G (n.5797+2T>G) c.5647+2T>G (n.5647+2T>G) | |
| 5 | g.128304955A>G | CA360739668 | FBN2 | n.2584+2T>C n.2503+2T>C c.5800+2T>C (n.5800+2T>C) c.5797+2T>C (n.5797+2T>C) c.5647+2T>C (n.5647+2T>C) | |
| 5 | g.128304955A>T | CA360739670 | FBN2 | n.2584+2T>A n.2503+2T>A c.5800+2T>A (n.5800+2T>A) c.5797+2T>A (n.5797+2T>A) c.5647+2T>A (n.5647+2T>A) | |
| 5 | g.128304956C>A | CA360739673 | FBN2 | n.2584+1G>T n.2503+1G>T c.5800+1G>T (n.5800+1G>T) c.5797+1G>T (n.5797+1G>T) c.5647+1G>T (n.5647+1G>T) | |
| 5 | g.128304956C>G | CA360739675 | FBN2 | n.2584+1G>C n.2503+1G>C c.5800+1G>C (n.5800+1G>C) c.5797+1G>C (n.5797+1G>C) c.5647+1G>C (n.5647+1G>C) | |
| 5 | g.128304956C>T | CA360739676 | FBN2 | n.2584+1G>A n.2503+1G>A c.5800+1G>A (n.5800+1G>A) c.5797+1G>A (n.5797+1G>A) c.5647+1G>A (n.5647+1G>A) | |
| 5 | g.128304957C>A | CA360739682 | FBN2 | n.2584G>T n.2503G>T c.5800G>T (p.Asp1934Tyr) c.5797G>T (p.Asp1933Tyr) c.5647G>T (p.Asp1883Tyr) | |
| 5 | g.128304957C>G | CA360739681 | FBN2 | n.2584G>C n.2503G>C c.5800G>C (p.Asp1934His) c.5797G>C (p.Asp1933His) c.5647G>C (p.Asp1883His) | |
| 5 | g.128304957C>T | CA360739679 | FBN2 | n.2584G>A n.2503G>A c.5800G>A (p.Asp1934Asn) c.5797G>A (p.Asp1933Asn) c.5647G>A (p.Asp1883Asn) | |
| 5 | g.128304958C>A | CA360739685 | FBN2 | n.2583G>T n.2502G>T c.5799G>T (p.Met1933Ile) c.5796G>T (p.Met1932Ile) c.5646G>T (p.Met1882Ile) | |
| 5 | g.128304958C= | CA1581255379 | FBN2 | n.2583G= n.2502G= c.5799G= (p.Met1933=) c.5796G= (p.Met1932=) c.5646G= (p.Met1882=) | |
| 5 | g.128304958C>G | CA360739687 | FBN2 | n.2583G>C n.2502G>C c.5799G>C (p.Met1933Ile) c.5796G>C (p.Met1932Ile) c.5646G>C (p.Met1882Ile) | gnomAD v4 |
| 5 | g.128304958C>T | CA360739688 | FBN2 | n.2583G>A n.2502G>A c.5799G>A (p.Met1933Ile) c.5796G>A (p.Met1932Ile) c.5646G>A (p.Met1882Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128304959A= | CA1581255380 | FBN2 | n.2582T= n.2501T= c.5798T= (p.Met1933=) c.5795T= (p.Met1932=) c.5645T= (p.Met1882=) | |
| 5 | g.128304959A>C | CA360739691 | FBN2 | n.2582T>G n.2501T>G c.5798T>G (p.Met1933Arg) c.5795T>G (p.Met1932Arg) c.5645T>G (p.Met1882Arg) | |
| 5 | g.128304959A>G | CA360739693 | FBN2 | n.2582T>C n.2501T>C c.5798T>C (p.Met1933Thr) c.5795T>C (p.Met1932Thr) c.5645T>C (p.Met1882Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128304959A>T | CA360739695 | FBN2 | n.2582T>A n.2501T>A c.5798T>A (p.Met1933Lys) c.5795T>A (p.Met1932Lys) c.5645T>A (p.Met1882Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128304960T>A | CA360739697 | FBN2 | n.2581A>T n.2500A>T c.5797A>T (p.Met1933Leu) c.5794A>T (p.Met1932Leu) c.5644A>T (p.Met1882Leu) | |
| 5 | g.128304960T>C | CA360739701 | FBN2 | n.2581A>G n.2500A>G c.5797A>G (p.Met1933Val) c.5794A>G (p.Met1932Val) c.5644A>G (p.Met1882Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128304960T>G | CA360739699 | FBN2 | n.2581A>C n.2500A>C c.5797A>C (p.Met1933Leu) c.5794A>C (p.Met1932Leu) c.5644A>C (p.Met1882Leu) | |
| 5 | g.128304960T= | CA1581255381 | FBN2 | n.2581A= n.2500A= c.5797A= (p.Met1933=) c.5794A= (p.Met1932=) c.5644A= (p.Met1882=) | |
| 5 | g.128304961G>A | CA446306341 | FBN2 | n.2580C>T n.2499C>T c.5796C>T (p.Cys1932=) c.5793C>T (p.Cys1931=) c.5643C>T (p.Cys1881=) | |
| 5 | g.128304961G>C | CA360739703 | FBN2 | n.2580C>G n.2499C>G c.5796C>G (p.Cys1932Trp) c.5793C>G (p.Cys1931Trp) c.5643C>G (p.Cys1881Trp) | |
| 5 | g.128304961G>T | CA360739705 | FBN2 | n.2580C>A n.2499C>A c.5796C>A (p.Cys1932Ter) c.5793C>A (p.Cys1931Ter) c.5643C>A (p.Cys1881Ter) | |
| 5 | g.128304962C>A | CA360739707 | FBN2 | n.2579G>T n.2498G>T c.5795G>T (p.Cys1932Phe) c.5792G>T (p.Cys1931Phe) c.5642G>T (p.Cys1881Phe) | |
| 5 | g.128304962C>G | CA360739709 | FBN2 | n.2579G>C n.2498G>C c.5795G>C (p.Cys1932Ser) c.5792G>C (p.Cys1931Ser) c.5642G>C (p.Cys1881Ser) | |
| 5 | g.128304962C>T | CA360739710 | FBN2 | n.2579G>A n.2498G>A c.5795G>A (p.Cys1932Tyr) c.5792G>A (p.Cys1931Tyr) c.5642G>A (p.Cys1881Tyr) | |
| 5 | g.128304963A>C | CA360739712 | FBN2 | n.2578T>G n.2497T>G c.5794T>G (p.Cys1932Gly) c.5791T>G (p.Cys1931Gly) c.5641T>G (p.Cys1881Gly) | |
| 5 | g.128304963A>G | CA360739714 | FBN2 | n.2578T>C n.2497T>C c.5794T>C (p.Cys1932Arg) c.5791T>C (p.Cys1931Arg) c.5641T>C (p.Cys1881Arg) | |
| 5 | g.128304963A>T | CA360739716 | FBN2 | n.2578T>A n.2497T>A c.5794T>A (p.Cys1932Ser) c.5791T>A (p.Cys1931Ser) c.5641T>A (p.Cys1881Ser) | |
| 5 | g.128304964C>A | CA360739718 | FBN2 | n.2577G>T n.2496G>T c.5793G>T (p.Met1931Ile) c.5790G>T (p.Met1930Ile) c.5640G>T (p.Met1880Ile) | |
| 5 | g.128304964C= | CA1581255382 | FBN2 | n.2577G= n.2496G= c.5793G= (p.Met1931=) c.5790G= (p.Met1930=) c.5640G= (p.Met1880=) | |
| 5 | g.128304964C>G | CA360739720 | FBN2 | n.2577G>C n.2496G>C c.5793G>C (p.Met1931Ile) c.5790G>C (p.Met1930Ile) c.5640G>C (p.Met1880Ile) | |
| 5 | g.128304964C>T | CA360739722 | FBN2 | n.2577G>A n.2496G>A c.5793G>A (p.Met1931Ile) c.5790G>A (p.Met1930Ile) c.5640G>A (p.Met1880Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128304965A= | CA1581255383 | FBN2 | n.2576T= n.2495T= c.5792T= (p.Met1931=) c.5789T= (p.Met1930=) c.5639T= (p.Met1880=) | |
| 5 | g.128304965A>C | CA360739725 | FBN2 | n.2576T>G n.2495T>G c.5792T>G (p.Met1931Arg) c.5789T>G (p.Met1930Arg) c.5639T>G (p.Met1880Arg) | |
| 5 | g.128304965A>G | CA360739734 | FBN2 | n.2576T>C n.2495T>C c.5792T>C (p.Met1931Thr) c.5789T>C (p.Met1930Thr) c.5639T>C (p.Met1880Thr) | |
| 5 | g.128304965A>T | CA360739732 | FBN2 | n.2576T>A n.2495T>A c.5792T>A (p.Met1931Lys) c.5789T>A (p.Met1930Lys) c.5639T>A (p.Met1880Lys) | dbSNP |
| 5 | g.128304966T>A | CA360739737 | FBN2 | n.2575A>T n.2494A>T c.5791A>T (p.Met1931Leu) c.5788A>T (p.Met1930Leu) c.5638A>T (p.Met1880Leu) | gnomAD v4 |
| 5 | g.128304966T>C | CA360739741 | FBN2 | n.2575A>G n.2494A>G c.5791A>G (p.Met1931Val) c.5788A>G (p.Met1930Val) c.5638A>G (p.Met1880Val) | |
| 5 | g.128304966T>G | CA360739738 | FBN2 | n.2575A>C n.2494A>C c.5791A>C (p.Met1931Leu) c.5788A>C (p.Met1930Leu) c.5638A>C (p.Met1880Leu) | |
| 5 | g.128304967G>A | CA446306344 | FBN2 | n.2574C>T n.2493C>T c.5790C>T (p.Thr1930=) c.5787C>T (p.Thr1929=) c.5637C>T (p.Thr1879=) | |
| 5 | g.128304967G>C | CA446306345 | FBN2 | n.2574C>G n.2493C>G c.5790C>G (p.Thr1930=) c.5787C>G (p.Thr1929=) c.5637C>G (p.Thr1879=) | |
| 5 | g.128304967G>T | CA446306346 | FBN2 | n.2574C>A n.2493C>A c.5790C>A (p.Thr1930=) c.5787C>A (p.Thr1929=) c.5637C>A (p.Thr1879=) | |
| 5 | g.128304968G>A | CA360739743 | FBN2 | n.2573C>T n.2492C>T c.5789C>T (p.Thr1930Ile) c.5786C>T (p.Thr1929Ile) c.5636C>T (p.Thr1879Ile) | |
| 5 | g.128304968G>C | CA360739745 | FBN2 | n.2573C>G n.2492C>G c.5789C>G (p.Thr1930Ser) c.5786C>G (p.Thr1929Ser) c.5636C>G (p.Thr1879Ser) | |
| 5 | g.128304968G>T | CA360739747 | FBN2 | n.2573C>A n.2492C>A c.5789C>A (p.Thr1930Asn) c.5786C>A (p.Thr1929Asn) c.5636C>A (p.Thr1879Asn) | ClinVar |