| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48441724_48441731del | CA913203390 | FBN1 | c.6158_6163+2del c.1157_1162+2del c.*1921_*1926+2del c.1465_1470+2del n.278_283+2del | |
| 15 | g.48441720_48441846delinsCCTTGGCACCTTCTTCCACTGGAGGACAAGGAAAACCCTTCTGGACACAGACATTTGAAGCTGCCTTCAGTGTTACTGCATGTGCCCAGGGCACAAATTTCTGGCTCTTCGACACACTCATCAATAT | CA2175508586 | FBN1 | c.6038_6163+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG c.1037_1162+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG c.*1801_*1926+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG c.1345_1470+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG n.158_283+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG | |
| 15 | g.48441723_48441848del | CA658824940 | FBN1 | c.6038_6163del c.1037_1162del c.*1801_*1926del c.1345_1470del n.158_283del | ClinVar dbSNP |
| 15 | g.48441725G>A | CA490021256 | FBN1 | c.6159C>T (p.Cys2053=) c.1158C>T (p.Cys386=) c.*1922C>T (n.*1922C>T) c.1466C>T n.279C>T | |
| 15 | g.48441725G>C | CA392337894 | FBN1 | c.6159C>G (p.Cys2053Trp) c.1158C>G (p.Cys386Trp) c.*1922C>G (n.*1922C>G) c.1466C>G n.279C>G | |
| 15 | g.48441725G= | CA2175508607 | FBN1 | c.6159C= (p.Cys2053=) c.1158C= (p.Cys386=) c.*1922C= (n.*1922C=) c.1466C= n.279C= | |
| 15 | g.48441725G>T | CA16614635 | FBN1 | c.6159C>A (p.Cys2053Ter) c.1158C>A (p.Cys386Ter) c.*1922C>A (n.*1922C>A) c.1466C>A n.279C>A | ClinVar dbSNP |
| 15 | g.48441726C>A | CA269530687 | FBN1 | c.6158G>T (p.Cys2053Phe) c.1157G>T (p.Cys386Phe) c.*1921G>T (n.*1921G>T) c.1465G>T n.278G>T | dbSNP |
| 15 | g.48441726C= | CA2175508618 | FBN1 | c.6158G= (p.Cys2053=) c.1157G= (p.Cys386=) c.*1921G= (n.*1921G=) c.1465G= n.278G= | |
| 15 | g.48441726C>G | CA392337900 | FBN1 | c.6158G>C (p.Cys2053Ser) c.1157G>C (p.Cys386Ser) c.*1921G>C (n.*1921G>C) c.1465G>C n.278G>C | |
| 15 | g.48441726C>T | CA392337901 | FBN1 | c.6158G>A (p.Cys2053Tyr) c.1157G>A (p.Cys386Tyr) c.*1921G>A (n.*1921G>A) c.1465G>A n.278G>A | ClinVar dbSNP |
| 15 | g.48441727A>C | CA392337903 | FBN1 | c.6157T>G (p.Cys2053Gly) c.1156T>G (p.Cys386Gly) c.*1920T>G (n.*1920T>G) c.1464T>G n.277T>G | |
| 15 | g.48441727A>G | CA392337905 | FBN1 | c.6157T>C (p.Cys2053Arg) c.1156T>C (p.Cys386Arg) c.*1920T>C (n.*1920T>C) c.1464T>C n.277T>C | |
| 15 | g.48441727A>T | CA392337917 | FBN1 | c.6157T>A (p.Cys2053Ser) c.1156T>A (p.Cys386Ser) c.*1920T>A (n.*1920T>A) c.1464T>A n.277T>A | ClinVar |
| 15 | g.48441728C>A | CA392337921 | FBN1 | c.6156G>T (p.Arg2052Ser) c.1155G>T (p.Arg385Ser) c.*1919G>T (n.*1919G>T) c.1463G>T n.276G>T | |
| 15 | g.48441728C>G | CA392337923 | FBN1 | c.6156G>C (p.Arg2052Ser) c.1155G>C (p.Arg385Ser) c.*1919G>C (n.*1919G>C) c.1463G>C n.276G>C | |
| 15 | g.48441728C>T | CA490021289 | FBN1 | c.6156G>A (p.Arg2052=) c.1155G>A (p.Arg385=) c.*1919G>A (n.*1919G>A) c.1463G>A n.276G>A | ClinVar |
| 15 | g.48441729C>A | CA392337926 | FBN1 | c.6155G>T (p.Arg2052Met) c.1154G>T (p.Arg385Met) c.*1918G>T (n.*1918G>T) c.1462G>T n.275G>T | |
| 15 | g.48441729C= | CA2175508624 | FBN1 | c.6155G= (p.Arg2052=) c.1154G= (p.Arg385=) c.*1918G= (n.*1918G=) c.1462G= n.275G= | |
| 15 | g.48441729C>G | CA392337929 | FBN1 | c.6155G>C (p.Arg2052Thr) c.1154G>C (p.Arg385Thr) c.*1918G>C (n.*1918G>C) c.1462G>C n.275G>C | |
| 15 | g.48441729C>T | CA392337932 | FBN1 | c.6155G>A (p.Arg2052Lys) c.1154G>A (p.Arg385Lys) c.*1918G>A (n.*1918G>A) c.1462G>A n.275G>A | dbSNP gnomAD v2 |
| 15 | g.48441730T>A | CA392337939 | FBN1 | c.6154A>T (p.Arg2052Trp) c.1153A>T (p.Arg385Trp) c.*1917A>T (n.*1917A>T) c.1461A>T n.274A>T | |
| 15 | g.48441730T>C | CA392337937 | FBN1 | c.6154A>G (p.Arg2052Gly) c.1153A>G (p.Arg385Gly) c.*1917A>G (n.*1917A>G) c.1461A>G n.274A>G | |
| 15 | g.48441730T>G | CA490021299 | FBN1 | c.6154A>C (p.Arg2052=) c.1153A>C (p.Arg385=) c.*1917A>C (n.*1917A>C) c.1461A>C n.274A>C | |
| 15 | g.48441731T>A | CA392337943 | FBN1 | c.6153A>T (p.Arg2051Ser) c.1152A>T (p.Arg384Ser) c.*1916A>T (n.*1916A>T) c.1460A>T n.273A>T | |
| 15 | g.48441731T>C | CA490021307 | FBN1 | c.6153A>G (p.Arg2051=) c.1152A>G (p.Arg384=) c.*1916A>G (n.*1916A>G) c.1460A>G n.273A>G | |
| 15 | g.48441731T>G | CA392337946 | FBN1 | c.6153A>C (p.Arg2051Ser) c.1152A>C (p.Arg384Ser) c.*1916A>C (n.*1916A>C) c.1460A>C n.273A>C | |
| 15 | g.48441732C>A | CA392337950 | FBN1 | c.6152G>T (p.Arg2051Ile) c.1151G>T (p.Arg384Ile) c.*1915G>T (n.*1915G>T) c.1459G>T n.272G>T | |
| 15 | g.48441732C>G | CA392337952 | FBN1 | c.6152G>C (p.Arg2051Thr) c.1151G>C (p.Arg384Thr) c.*1915G>C (n.*1915G>C) c.1459G>C n.272G>C | |
| 15 | g.48441732C>T | CA392337956 | FBN1 | c.6152G>A (p.Arg2051Lys) c.1151G>A (p.Arg384Lys) c.*1915G>A (n.*1915G>A) c.1459G>A n.272G>A | COSMIC |
| 15 | g.48441733T>A | CA392337958 | FBN1 | c.6151A>T (p.Arg2051Ter) c.1150A>T (p.Arg384Ter) c.*1914A>T (n.*1914A>T) c.1458A>T n.271A>T | ClinVar |
| 15 | g.48441733T>C | CA392337960 | FBN1 | c.6151A>G (p.Arg2051Gly) c.1150A>G (p.Arg384Gly) c.*1914A>G (n.*1914A>G) c.1458A>G n.271A>G | |
| 15 | g.48441733T>G | CA490021325 | FBN1 | c.6151A>C (p.Arg2051=) c.1150A>C (p.Arg384=) c.*1914A>C (n.*1914A>C) c.1458A>C n.271A>C | |
| 15 | g.48441734dup | CA2580089652 | FBN1 | c.6151dup (p.Arg2051LysfsTer16) c.1150dup (p.Arg384LysfsTer16) c.*1914dup (n.*1914dup) c.1458dup n.271dup | ClinVar |
| 15 | g.48441734del | CA2695220192 | FBN1 | c.6151del (p.Arg2051GlufsTer8) c.1150del (p.Arg384GlufsTer8) c.*1914del (n.*1914del) c.1458del n.271del | |
| 15 | g.48441733_48441738delinsTTCCAC | CA2175508629 | FBN1 | c.6146_6151delinsGTGGAA (p.Ser2049=) c.1145_1150delinsGTGGAA (p.Ser382=) c.*1909_*1914delinsGTGGAA (n.*1909_*1914delinsGTGGAA) c.1453_1458delinsGTGGAA n.266_271delinsGTGGAA | |
| 15 | g.48441734T>A | CA490021328 | FBN1 | c.6150A>T (p.Gly2050=) c.1149A>T (p.Gly383=) c.*1913A>T (n.*1913A>T) c.1457A>T n.270A>T | |
| 15 | g.48441734T>C | CA490021331 | FBN1 | c.6150A>G (p.Gly2050=) c.1149A>G (p.Gly383=) c.*1913A>G (n.*1913A>G) c.1457A>G n.270A>G | |
| 15 | g.48441734T>G | CA490021332 | FBN1 | c.6150A>C (p.Gly2050=) c.1149A>C (p.Gly383=) c.*1913A>C (n.*1913A>C) c.1457A>C n.270A>C | gnomAD v4 |
| 15 | g.48441734_48441735delinsTC | CA2175508634 | FBN1 | c.6149_6150delinsGA (p.Gly2050=) c.1148_1149delinsGA (p.Gly383=) c.*1912_*1913delinsGA (n.*1912_*1913delinsGA) c.1456_1457delinsGA n.269_270delinsGA | |
| 15 | g.48441735_48441739del | CA658798331 | FBN1 | c.6146_6150del (p.Ser2049LysfsTer16) c.1145_1149del (p.Ser382LysfsTer16) c.*1909_*1913del (n.*1909_*1913del) c.1453_1457del n.266_270del | ClinVar dbSNP |
| 15 | g.48441735C>A | CA392337966 | FBN1 | c.6149G>T (p.Gly2050Val) c.1148G>T (p.Gly383Val) c.*1912G>T (n.*1912G>T) c.1456G>T n.269G>T | |
| 15 | g.48441735C>G | CA392337968 | FBN1 | c.6149G>C (p.Gly2050Ala) c.1148G>C (p.Gly383Ala) c.*1912G>C (n.*1912G>C) c.1456G>C n.269G>C | |
| 15 | g.48441735C>T | CA392337971 | FBN1 | c.6149G>A (p.Gly2050Glu) c.1148G>A (p.Gly383Glu) c.*1912G>A (n.*1912G>A) c.1456G>A n.269G>A | |
| 15 | g.48441736del | CA915946650 | FBN1 | c.6149del (p.Gly2050GlufsTer9) c.1148del (p.Gly383GlufsTer9) c.*1912del (n.*1912del) c.1456del n.269del | ClinVar dbSNP |
| 15 | g.48441736C>A | CA392337975 | FBN1 | c.6148G>T (p.Gly2050Ter) c.1147G>T (p.Gly383Ter) c.*1911G>T (n.*1911G>T) c.1455G>T n.268G>T | |
| 15 | g.48441736C>G | CA392337980 | FBN1 | c.6148G>C (p.Gly2050Arg) c.1147G>C (p.Gly383Arg) c.*1911G>C (n.*1911G>C) c.1455G>C n.268G>C | |
| 15 | g.48441736C>T | CA392337982 | FBN1 | c.6148G>A (p.Gly2050Arg) c.1147G>A (p.Gly383Arg) c.*1911G>A (n.*1911G>A) c.1455G>A n.268G>A | |
| 15 | g.48441737A= | CA2175508651 | FBN1 | c.6147T= (p.Ser2049=) c.1146T= (p.Ser382=) c.*1910T= (n.*1910T=) c.1454T= n.267T= | |
| 15 | g.48441737A>C | CA392337990 | FBN1 | c.6147T>G (p.Ser2049Arg) c.1146T>G (p.Ser382Arg) c.*1910T>G (n.*1910T>G) c.1454T>G n.267T>G | dbSNP gnomAD v2 gnomAD v4 |