| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.48441767_48441768del | CA16042960 | FBN1 | c.6119_6120del (p.Cys2040SerfsTer26) c.1118_1119del (p.Cys373SerfsTer26) c.*1882_*1883del (n.*1882_*1883del) c.1426_1427del n.239_240del | ClinVar dbSNP |
| 15 | g.48441767C>A | CA490021546 | FBN1 | c.6117G>T (p.Leu2039=) c.1116G>T (p.Leu372=) c.*1880G>T (n.*1880G>T) c.1424G>T n.237G>T | |
| 15 | g.48441767C>G | CA490021548 | FBN1 | c.6117G>C (p.Leu2039=) c.1116G>C (p.Leu372=) c.*1880G>C (n.*1880G>C) c.1424G>C n.237G>C | |
| 15 | g.48441767C>T | CA490021550 | FBN1 | c.6117G>A (p.Leu2039=) c.1116G>A (p.Leu372=) c.*1880G>A (n.*1880G>A) c.1424G>A n.237G>A | gnomAD v4 |
| 15 | g.48441768A>C | CA392338176 | FBN1 | c.6116T>G (p.Leu2039Arg) c.1115T>G (p.Leu372Arg) c.*1879T>G (n.*1879T>G) c.1423T>G n.236T>G | |
| 15 | g.48441768A>G | CA392338178 | FBN1 | c.6116T>C (p.Leu2039Pro) c.1115T>C (p.Leu372Pro) c.*1879T>C (n.*1879T>C) c.1423T>C n.236T>C | |
| 15 | g.48441768A>T | CA392338181 | FBN1 | c.6116T>A (p.Leu2039Gln) c.1115T>A (p.Leu372Gln) c.*1879T>A (n.*1879T>A) c.1423T>A n.236T>A | |
| 15 | g.48441769G>A | CA490021555 | FBN1 | c.6115C>T (p.Leu2039=) c.1114C>T (p.Leu372=) c.*1878C>T (n.*1878C>T) c.1422C>T n.235C>T | |
| 15 | g.48441769G>C | CA392338185 | FBN1 | c.6115C>G (p.Leu2039Val) c.1114C>G (p.Leu372Val) c.*1878C>G (n.*1878C>G) c.1422C>G n.235C>G | |
| 15 | g.48441769G>T | CA392338188 | FBN1 | c.6115C>A (p.Leu2039Met) c.1114C>A (p.Leu372Met) c.*1878C>A (n.*1878C>A) c.1422C>A n.235C>A | |
| 15 | g.48441770A>C | CA392338190 | FBN1 | c.6114T>G (p.Cys2038Trp) c.1113T>G (p.Cys371Trp) c.*1877T>G (n.*1877T>G) c.1421T>G n.234T>G | |
| 15 | g.48441770A>G | CA490021562 | FBN1 | c.6114T>C (p.Cys2038=) c.1113T>C (p.Cys371=) c.*1877T>C (n.*1877T>C) c.1421T>C n.234T>C | |
| 15 | g.48441770A>T | CA392338193 | FBN1 | c.6114T>A (p.Cys2038Ter) c.1113T>A (p.Cys371Ter) c.*1877T>A (n.*1877T>A) c.1421T>A n.234T>A | |
| 15 | g.48441771del | CA2573150944 | FBN1 | c.6113del (p.Cys2038PhefsTer21) c.1112del (p.Cys371PhefsTer21) c.*1876del (n.*1876del) c.1420del n.233del | ClinVar dbSNP |
| 15 | g.48441771C>A | CA392338201 | FBN1 | c.6113G>T (p.Cys2038Phe) c.1112G>T (p.Cys371Phe) c.*1876G>T (n.*1876G>T) c.1420G>T n.233G>T | ClinVar |
| 15 | g.48441771C= | CA2175508838 | FBN1 | c.6113G= (p.Cys2038=) c.1112G= (p.Cys371=) c.*1876G= (n.*1876G=) c.1420G= n.233G= | |
| 15 | g.48441771C>G | CA392338198 | FBN1 | c.6113G>C (p.Cys2038Ser) c.1112G>C (p.Cys371Ser) c.*1876G>C (n.*1876G>C) c.1420G>C n.233G>C | ClinVar dbSNP |
| 15 | g.48441771C>T | CA269530715 | FBN1 | c.6113G>A (p.Cys2038Tyr) c.1112G>A (p.Cys371Tyr) c.*1876G>A (n.*1876G>A) c.1420G>A n.233G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441772A= | CA2175508851 | FBN1 | c.6112T= (p.Cys2038=) c.1111T= (p.Cys371=) c.*1875T= (n.*1875T=) c.1419T= n.232T= | |
| 15 | g.48441772A>C | CA16619946 | FBN1 | c.6112T>G (p.Cys2038Gly) c.1111T>G (p.Cys371Gly) c.*1875T>G (n.*1875T>G) c.1419T>G n.232T>G | ClinVar dbSNP |
| 15 | g.48441772A>G | CA392338206 | FBN1 | c.6112T>C (p.Cys2038Arg) c.1111T>C (p.Cys371Arg) c.*1875T>C (n.*1875T>C) c.1419T>C n.232T>C | |
| 15 | g.48441772A>T | CA392338209 | FBN1 | c.6112T>A (p.Cys2038Ser) c.1111T>A (p.Cys371Ser) c.*1875T>A (n.*1875T>A) c.1419T>A n.232T>A | |
| 15 | g.48441773T>A | CA392338213 | FBN1 | c.6111A>T (p.Lys2037Asn) c.1110A>T (p.Lys370Asn) c.*1874A>T (n.*1874A>T) c.1418A>T n.231A>T | |
| 15 | g.48441773T>C | CA056263 | FBN1 | c.6111A>G (p.Lys2037=) c.1110A>G (p.Lys370=) c.*1874A>G (n.*1874A>G) c.1418A>G n.231A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441773T>G | CA392338217 | FBN1 | c.6111A>C (p.Lys2037Asn) c.1110A>C (p.Lys370Asn) c.*1874A>C (n.*1874A>C) c.1418A>C n.231A>C | |
| 15 | g.48441773T= | CA2175508854 | FBN1 | c.6111A= (p.Lys2037=) c.1110A= (p.Lys370=) c.*1874A= (n.*1874A=) c.1418A= n.231A= | |
| 15 | g.48441774T>A | CA392338221 | FBN1 | c.6110A>T (p.Lys2037Ile) c.1109A>T (p.Lys370Ile) c.*1873A>T (n.*1873A>T) c.1417A>T n.230A>T | |
| 15 | g.48441774T>C | CA056253 | FBN1 | c.6110A>G (p.Lys2037Arg) c.1109A>G (p.Lys370Arg) c.*1873A>G (n.*1873A>G) c.1417A>G n.230A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441774T>G | CA056248 | FBN1 | c.6110A>C (p.Lys2037Thr) c.1109A>C (p.Lys370Thr) c.*1873A>C (n.*1873A>C) c.1417A>C n.230A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48441774T= | CA2175508858 | FBN1 | c.6110A= (p.Lys2037=) c.1109A= (p.Lys370=) c.*1873A= (n.*1873A=) c.1417A= n.230A= | |
| 15 | g.48441775T>A | CA392338227 | FBN1 | c.6109A>T (p.Lys2037Ter) c.1108A>T (p.Lys370Ter) c.*1872A>T (n.*1872A>T) c.1416A>T n.229A>T | |
| 15 | g.48441775T>C | CA392338230 | FBN1 | c.6109A>G (p.Lys2037Glu) c.1108A>G (p.Lys370Glu) c.*1872A>G (n.*1872A>G) c.1416A>G n.229A>G | |
| 15 | g.48441775T>G | CA392338237 | FBN1 | c.6109A>C (p.Lys2037Gln) c.1108A>C (p.Lys370Gln) c.*1872A>C (n.*1872A>C) c.1416A>C n.229A>C | |
| 15 | g.48441776G>A | CA490021582 | FBN1 | c.6108C>T (p.Phe2036=) c.1107C>T (p.Phe369=) c.*1871C>T (n.*1871C>T) c.1415C>T n.228C>T | |
| 15 | g.48441776G>C | CA392338238 | FBN1 | c.6108C>G (p.Phe2036Leu) c.1107C>G (p.Phe369Leu) c.*1871C>G (n.*1871C>G) c.1415C>G n.228C>G | |
| 15 | g.48441776G>T | CA392338240 | FBN1 | c.6108C>A (p.Phe2036Leu) c.1107C>A (p.Phe369Leu) c.*1871C>A (n.*1871C>A) c.1415C>A n.228C>A | |
| 15 | g.48441777A>C | CA392338249 | FBN1 | c.6107T>G (p.Phe2036Cys) c.1106T>G (p.Phe369Cys) c.*1870T>G (n.*1870T>G) c.1414T>G n.227T>G | |
| 15 | g.48441777A>G | CA392338246 | FBN1 | c.6107T>C (p.Phe2036Ser) c.1106T>C (p.Phe369Ser) c.*1870T>C (n.*1870T>C) c.1414T>C n.227T>C | |
| 15 | g.48441777A>T | CA392338244 | FBN1 | c.6107T>A (p.Phe2036Tyr) c.1106T>A (p.Phe369Tyr) c.*1870T>A (n.*1870T>A) c.1414T>A n.227T>A | |
| 15 | g.48441778A= | CA2175508873 | FBN1 | c.6106T= (p.Phe2036=) c.1105T= (p.Phe369=) c.*1869T= (n.*1869T=) c.1413T= n.226T= | |
| 15 | g.48441778A>C | CA392338253 | FBN1 | c.6106T>G (p.Phe2036Val) c.1105T>G (p.Phe369Val) c.*1869T>G (n.*1869T>G) c.1413T>G n.226T>G | |
| 15 | g.48441778A>G | CA392338256 | FBN1 | c.6106T>C (p.Phe2036Leu) c.1105T>C (p.Phe369Leu) c.*1869T>C (n.*1869T>C) c.1413T>C n.226T>C | ClinVar dbSNP |
| 15 | g.48441778A>T | CA392338258 | FBN1 | c.6106T>A (p.Phe2036Ile) c.1105T>A (p.Phe369Ile) c.*1869T>A (n.*1869T>A) c.1413T>A n.226T>A | |
| 15 | g.48441779G>A | CA490021588 | FBN1 | c.6105C>T (p.Ser2035=) c.1104C>T (p.Ser368=) c.*1868C>T (n.*1868C>T) c.1412C>T n.225C>T | ClinVar dbSNP |
| 15 | g.48441779G>C | CA392338260 | FBN1 | c.6105C>G (p.Ser2035Arg) c.1104C>G (p.Ser368Arg) c.*1868C>G (n.*1868C>G) c.1412C>G n.225C>G | |
| 15 | g.48441779G= | CA2175508880 | FBN1 | c.6105C= (p.Ser2035=) c.1104C= (p.Ser368=) c.*1868C= (n.*1868C=) c.1412C= n.225C= | |
| 15 | g.48441779G>T | CA392338262 | FBN1 | c.6105C>A (p.Ser2035Arg) c.1104C>A (p.Ser368Arg) c.*1868C>A (n.*1868C>A) c.1412C>A n.225C>A | |
| 15 | g.48441780C>A | CA392338265 | FBN1 | c.6104G>T (p.Ser2035Ile) c.1103G>T (p.Ser368Ile) c.*1867G>T (n.*1867G>T) c.1411G>T n.224G>T |