| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48446701C>A | CA016073 | FBN1 | c.5788+5G>T (n.5788+5G>T) n.4462+5G>T c.787+5G>T (n.787+5G>T) c.*1551+5G>T (n.*1551+5G>T) c.1095+5G>T | ClinVar dbSNP |
| 15 | g.48446701C= | CA2175494798 | FBN1 | c.5788+5G= (n.5788+5G=) n.4462+5G= c.787+5G= (n.787+5G=) c.*1551+5G= (n.*1551+5G=) c.1095+5G= | |
| 15 | g.48446701C>G | CA2695220247 | FBN1 | c.5788+5G>C (n.5788+5G>C) n.4462+5G>C c.787+5G>C (n.787+5G>C) c.*1551+5G>C (n.*1551+5G>C) c.1095+5G>C | ClinVar |
| 15 | g.48446701C>T | CA016065 | FBN1 | c.5788+5G>A (n.5788+5G>A) n.4462+5G>A c.787+5G>A (n.787+5G>A) c.*1551+5G>A (n.*1551+5G>A) c.1095+5G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446702G>A | CA055647 | FBN1 | c.5788+4C>T (n.5788+4C>T) n.4462+4C>T c.787+4C>T (n.787+4C>T) c.*1551+4C>T (n.*1551+4C>T) c.1095+4C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446702G= | CA2175494814 | FBN1 | c.5788+4C= (n.5788+4C=) n.4462+4C= c.787+4C= (n.787+4C=) c.*1551+4C= (n.*1551+4C=) c.1095+4C= | |
| 15 | g.48446702G>T | CA055644 | FBN1 | c.5788+4C>A (n.5788+4C>A) n.4462+4C>A c.787+4C>A (n.787+4C>A) c.*1551+4C>A (n.*1551+4C>A) c.1095+4C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446703C= | CA2175494821 | FBN1 | c.5788+3G= (n.5788+3G=) n.4462+3G= c.787+3G= (n.787+3G=) c.*1551+3G= (n.*1551+3G=) c.1095+3G= | |
| 15 | g.48446703C>T | CA055616 | FBN1 | c.5788+3G>A (n.5788+3G>A) n.4462+3G>A c.787+3G>A (n.787+3G>A) c.*1551+3G>A (n.*1551+3G>A) c.1095+3G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446704A= | CA2175494827 | FBN1 | c.5788+2T= (n.5788+2T=) n.4462+2T= c.787+2T= (n.787+2T=) c.*1551+2T= (n.*1551+2T=) c.1095+2T= | |
| 15 | g.48446704A>C | CA392340986 | FBN1 | c.5788+2T>G (n.5788+2T>G) n.4462+2T>G c.787+2T>G (n.787+2T>G) c.*1551+2T>G (n.*1551+2T>G) c.1095+2T>G | |
| 15 | g.48446704A>G | CA392340988 | FBN1 | c.5788+2T>C (n.5788+2T>C) n.4462+2T>C c.787+2T>C (n.787+2T>C) c.*1551+2T>C (n.*1551+2T>C) c.1095+2T>C | ClinVar dbSNP |
| 15 | g.48446704A>T | CA392340990 | FBN1 | c.5788+2T>A (n.5788+2T>A) n.4462+2T>A c.787+2T>A (n.787+2T>A) c.*1551+2T>A (n.*1551+2T>A) c.1095+2T>A | |
| 15 | g.48446705C>A | CA392340993 | FBN1 | c.5788+1G>T (n.5788+1G>T) n.4462+1G>T c.787+1G>T (n.787+1G>T) c.*1551+1G>T (n.*1551+1G>T) c.1095+1G>T | ClinVar dbSNP |
| 15 | g.48446705C= | CA2175494832 | FBN1 | c.5788+1G= (n.5788+1G=) n.4462+1G= c.787+1G= (n.787+1G=) c.*1551+1G= (n.*1551+1G=) c.1095+1G= | |
| 15 | g.48446705C>G | CA392340996 | FBN1 | c.5788+1G>C (n.5788+1G>C) n.4462+1G>C c.787+1G>C (n.787+1G>C) c.*1551+1G>C (n.*1551+1G>C) c.1095+1G>C | |
| 15 | g.48446705C>T | CA392340994 | FBN1 | c.5788+1G>A (n.5788+1G>A) n.4462+1G>A c.787+1G>A (n.787+1G>A) c.*1551+1G>A (n.*1551+1G>A) c.1095+1G>A | ClinVar dbSNP |
| 15 | g.48446706C>A | CA392340998 | FBN1 | c.5788G>T (p.Asp1930Tyr) n.4462G>T c.787G>T (p.Asp263Tyr) c.*1551G>T (n.*1551G>T) c.1095G>T | ClinVar dbSNP |
| 15 | g.48446706C= | CA2175494848 | FBN1 | c.5788G= (p.Asp1930=) n.4462G= c.787G= (p.Asp263=) c.*1551G= (n.*1551G=) c.1095G= | |
| 15 | g.48446706C>G | CA392341000 | FBN1 | c.5788G>C (p.Asp1930His) n.4462G>C c.787G>C (p.Asp263His) c.*1551G>C (n.*1551G>C) c.1095G>C | ClinVar dbSNP |
| 15 | g.48446706C>T | CA392341002 | FBN1 | c.5788G>A (p.Asp1930Asn) n.4462G>A c.787G>A (p.Asp263Asn) c.*1551G>A (n.*1551G>A) c.1095G>A | ClinVar dbSNP |
| 15 | g.48446707T>A | CA490022954 | FBN1 | c.5787A>T (p.Ile1929=) n.4461A>T c.786A>T (p.Ile262=) c.*1550A>T (n.*1550A>T) c.1094A>T | |
| 15 | g.48446707T>C | CA392341003 | FBN1 | c.5787A>G (p.Ile1929Met) n.4461A>G c.786A>G (p.Ile262Met) c.*1550A>G (n.*1550A>G) c.1094A>G | |
| 15 | g.48446707T>G | CA490022955 | FBN1 | c.5787A>C (p.Ile1929=) n.4461A>C c.786A>C (p.Ile262=) c.*1550A>C (n.*1550A>C) c.1094A>C | |
| 15 | g.48446708A= | CA2175494849 | FBN1 | c.5786T= (p.Ile1929=) n.4460T= c.785T= (p.Ile262=) c.*1549T= (n.*1549T=) c.1093T= | |
| 15 | g.48446708A>C | CA392341004 | FBN1 | c.5786T>G (p.Ile1929Arg) n.4460T>G c.785T>G (p.Ile262Arg) c.*1549T>G (n.*1549T>G) c.1093T>G | |
| 15 | g.48446708A>G | CA055522 | FBN1 | c.5786T>C (p.Ile1929Thr) n.4460T>C c.785T>C (p.Ile262Thr) c.*1549T>C (n.*1549T>C) c.1093T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446708A>T | CA392341007 | FBN1 | c.5786T>A (p.Ile1929Lys) n.4460T>A c.785T>A (p.Ile262Lys) c.*1549T>A (n.*1549T>A) c.1093T>A | |
| 15 | g.48446709T>A | CA392341009 | FBN1 | c.5785A>T (p.Ile1929Leu) n.4459A>T c.784A>T (p.Ile262Leu) c.*1548A>T (n.*1548A>T) c.1092A>T | |
| 15 | g.48446709T>C | CA055517 | FBN1 | c.5785A>G (p.Ile1929Val) n.4459A>G c.784A>G (p.Ile262Val) c.*1548A>G (n.*1548A>G) c.1092A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446709T>G | CA392341012 | FBN1 | c.5785A>C (p.Ile1929Leu) n.4459A>C c.784A>C (p.Ile262Leu) c.*1548A>C (n.*1548A>C) c.1092A>C | |
| 15 | g.48446709T= | CA2175494853 | FBN1 | c.5785A= (p.Ile1929=) n.4459A= c.784A= (p.Ile262=) c.*1548A= (n.*1548A=) c.1092A= | |
| 15 | g.48446710A>C | CA392341013 | FBN1 | c.5784T>G (p.Cys1928Trp) n.4458T>G c.783T>G (p.Cys261Trp) c.*1547T>G (n.*1547T>G) c.1091T>G | |
| 15 | g.48446710A>G | CA490022959 | FBN1 | c.5784T>C (p.Cys1928=) n.4458T>C c.783T>C (p.Cys261=) c.*1547T>C (n.*1547T>C) c.1091T>C | COSMIC |
| 15 | g.48446710A>T | CA392341014 | FBN1 | c.5784T>A (p.Cys1928Ter) n.4458T>A c.783T>A (p.Cys261Ter) c.*1547T>A (n.*1547T>A) c.1091T>A | |
| 15 | g.48446710dup | CA2628347782 | FBN1 | c.5784dup (p.Ile1929TyrfsTer4) n.4458dup c.783dup (p.Ile262TyrfsTer4) c.*1547dup (n.*1547dup) c.1091dup | gnomAD v4 |
| 15 | g.48446711C>A | CA016047 | FBN1 | c.5783G>T (p.Cys1928Phe) n.4457G>T c.782G>T (p.Cys261Phe) c.*1546G>T (n.*1546G>T) c.1090G>T | ClinVar dbSNP |
| 15 | g.48446711C= | CA2175494859 | FBN1 | c.5783G= (p.Cys1928=) n.4457G= c.782G= (p.Cys261=) c.*1546G= (n.*1546G=) c.1090G= | |
| 15 | g.48446711C>G | CA392341015 | FBN1 | c.5783G>C (p.Cys1928Ser) n.4457G>C c.782G>C (p.Cys261Ser) c.*1546G>C (n.*1546G>C) c.1090G>C | |
| 15 | g.48446711C>T | CA392341016 | FBN1 | c.5783G>A (p.Cys1928Tyr) n.4457G>A c.782G>A (p.Cys261Tyr) c.*1546G>A (n.*1546G>A) c.1090G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48446712A= | CA2175494867 | FBN1 | c.5782T= (p.Cys1928=) n.4456T= c.781T= (p.Cys261=) c.*1545T= (n.*1545T=) c.1089T= | |
| 15 | g.48446712A>C | CA392341017 | FBN1 | c.5782T>G (p.Cys1928Gly) n.4456T>G c.781T>G (p.Cys261Gly) c.*1545T>G (n.*1545T>G) c.1089T>G | |
| 15 | g.48446712A>G | CA16602236 | FBN1 | c.5782T>C (p.Cys1928Arg) n.4456T>C c.781T>C (p.Cys261Arg) c.*1545T>C (n.*1545T>C) c.1089T>C | ClinVar dbSNP |
| 15 | g.48446712A>T | CA392341019 | FBN1 | c.5782T>A (p.Cys1928Ser) n.4456T>A c.781T>A (p.Cys261Ser) c.*1545T>A (n.*1545T>A) c.1089T>A | |
| 15 | g.48446713G>A | CA490022961 | FBN1 | c.5781C>T (p.Asp1927=) n.4455C>T c.780C>T (p.Asp260=) c.*1544C>T (n.*1544C>T) c.1088C>T | |
| 15 | g.48446713G>C | CA392341021 | FBN1 | c.5781C>G (p.Asp1927Glu) n.4455C>G c.780C>G (p.Asp260Glu) c.*1544C>G (n.*1544C>G) c.1088C>G | |
| 15 | g.48446713G>T | CA392341022 | FBN1 | c.5781C>A (p.Asp1927Glu) n.4455C>A c.780C>A (p.Asp260Glu) c.*1544C>A (n.*1544C>A) c.1088C>A | gnomAD v4 |
| 15 | g.48446714T>A | CA392341025 | FBN1 | c.5780A>T (p.Asp1927Val) n.4454A>T c.779A>T (p.Asp260Val) c.*1543A>T (n.*1543A>T) c.1087A>T | |
| 15 | g.48446714T>C | CA392341027 | FBN1 | c.5780A>G (p.Asp1927Gly) n.4454A>G c.779A>G (p.Asp260Gly) c.*1543A>G (n.*1543A>G) c.1087A>G | |
| 15 | g.48446714T>G | CA392341029 | FBN1 | c.5780A>C (p.Asp1927Ala) n.4454A>C c.779A>C (p.Asp260Ala) c.*1543A>C (n.*1543A>C) c.1087A>C |