| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48441715_48441720del | CA2695220184 | FBN1 | c.6163+3_6163+8del (n.6163+3_6163+8del) c.1162+3_1162+8del (n.1162+3_1162+8del) c.*1926+3_*1926+8del (n.*1926+3_*1926+8del) c.1470+3_1470+8del n.283+3_283+8del | |
| 15 | g.48441717_48441720del | CA2695220186 | FBN1 | c.6163+3_6163+6del (n.6163+3_6163+6del) c.1162+3_1162+6del (n.1162+3_1162+6del) c.*1926+3_*1926+6del (n.*1926+3_*1926+6del) c.1470+3_1470+6del n.283+3_283+6del | |
| 15 | g.48441719_48441720del | CA2740096627 | FBN1 | c.6163+1_6163+2del (n.6163+1_6163+2del) c.1162+1_1162+2del (n.1162+1_1162+2del) c.*1926+1_*1926+2del (n.*1926+1_*1926+2del) c.1470+1_1470+2del n.283+1_283+2del | ClinVar |
| 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.48441720C>A | CA392337852 | FBN1 | c.6163+1G>T (n.6163+1G>T) c.1162+1G>T (n.1162+1G>T) c.*1926+1G>T (n.*1926+1G>T) c.1470+1G>T n.283+1G>T | |
| 15 | g.48441720C= | CA2175508579 | FBN1 | c.6163+1G= (n.6163+1G=) c.1162+1G= (n.1162+1G=) c.*1926+1G= (n.*1926+1G=) c.1470+1G= n.283+1G= | |
| 15 | g.48441720C>G | CA392337855 | FBN1 | c.6163+1G>C (n.6163+1G>C) c.1162+1G>C (n.1162+1G>C) c.*1926+1G>C (n.*1926+1G>C) c.1470+1G>C n.283+1G>C | |
| 15 | g.48441720C>T | CA392337857 | FBN1 | c.6163+1G>A (n.6163+1G>A) c.1162+1G>A (n.1162+1G>A) c.*1926+1G>A (n.*1926+1G>A) c.1470+1G>A n.283+1G>A | ClinVar dbSNP |
| 15 | g.48441721del | CA2695220188 | FBN1 | c.6163+1del c.1162+1del c.*1926+1del c.1470+1del n.283+1del | |
| 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.48441721C>A | CA392337862 | FBN1 | c.6163G>T (p.Asp2055Tyr) c.1162G>T (p.Asp388Tyr) c.*1926G>T (n.*1926G>T) c.1470G>T n.283G>T | |
| 15 | g.48441721C>G | CA392337865 | FBN1 | c.6163G>C (p.Asp2055His) c.1162G>C (p.Asp388His) c.*1926G>C (n.*1926G>C) c.1470G>C n.283G>C | |
| 15 | g.48441721C>T | CA392337867 | FBN1 | c.6163G>A (p.Asp2055Asn) c.1162G>A (p.Asp388Asn) c.*1926G>A (n.*1926G>A) c.1470G>A n.283G>A | |
| 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.48441722T>A | CA392337869 | FBN1 | c.6162A>T (p.Gln2054His) c.1161A>T (p.Gln387His) c.*1925A>T (n.*1925A>T) c.1469A>T n.282A>T | |
| 15 | g.48441722T>C | CA490021242 | FBN1 | c.6162A>G (p.Gln2054=) c.1161A>G (p.Gln387=) c.*1925A>G (n.*1925A>G) c.1469A>G n.282A>G | ClinVar |
| 15 | g.48441722T>G | CA392337872 | FBN1 | c.6162A>C (p.Gln2054His) c.1161A>C (p.Gln387His) c.*1925A>C (n.*1925A>C) c.1469A>C n.282A>C | |
| 15 | g.48441723T>A | CA392337876 | FBN1 | c.6161A>T (p.Gln2054Leu) c.1160A>T (p.Gln387Leu) c.*1924A>T (n.*1924A>T) c.1468A>T n.281A>T | |
| 15 | g.48441723T>C | CA392337877 | FBN1 | c.6161A>G (p.Gln2054Arg) c.1160A>G (p.Gln387Arg) c.*1924A>G (n.*1924A>G) c.1468A>G n.281A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.48441723T>G | CA392337881 | FBN1 | c.6161A>C (p.Gln2054Pro) c.1160A>C (p.Gln387Pro) c.*1924A>C (n.*1924A>C) c.1468A>C n.281A>C | |
| 15 | g.48441723T= | CA2175508593 | FBN1 | c.6161A= (p.Gln2054=) c.1160A= (p.Gln387=) c.*1924A= (n.*1924A=) c.1468A= n.281A= | |
| 15 | g.48441724G>A | CA392337890 | FBN1 | c.6160C>T (p.Gln2054Ter) c.1159C>T (p.Gln387Ter) c.*1923C>T (n.*1923C>T) c.1467C>T n.280C>T | ClinVar dbSNP |
| 15 | g.48441724G>C | CA392337886 | FBN1 | c.6160C>G (p.Gln2054Glu) c.1159C>G (p.Gln387Glu) c.*1923C>G (n.*1923C>G) c.1467C>G n.280C>G | |
| 15 | g.48441724G= | CA2175508600 | FBN1 | c.6160C= (p.Gln2054=) c.1159C= (p.Gln387=) c.*1923C= (n.*1923C=) c.1467C= n.280C= | |
| 15 | g.48441724G>T | CA392337884 | FBN1 | c.6160C>A (p.Gln2054Lys) c.1159C>A (p.Gln387Lys) c.*1923C>A (n.*1923C>A) c.1467C>A n.280C>A | |
| 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 |