UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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 |
| 15 | g.48441737A>G | CA056289 | FBN1 | c.6147T>C (p.Ser2049=) c.1146T>C (p.Ser382=) c.*1910T>C (n.*1910T>C) c.1454T>C n.267T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441737A>T | CA269530690 | FBN1 | c.6147T>A (p.Ser2049Arg) c.1146T>A (p.Ser382Arg) c.*1910T>A (n.*1910T>A) c.1454T>A n.267T>A | ClinVar dbSNP |
| 15 | g.48441738C>A | CA392337998 | FBN1 | c.6146G>T (p.Ser2049Ile) c.1145G>T (p.Ser382Ile) c.*1909G>T (n.*1909G>T) c.1453G>T n.266G>T | |
| 15 | g.48441738C>G | CA392337995 | FBN1 | c.6146G>C (p.Ser2049Thr) c.1145G>C (p.Ser382Thr) c.*1909G>C (n.*1909G>C) c.1453G>C n.266G>C | |
| 15 | g.48441738C>T | CA392338000 | FBN1 | c.6146G>A (p.Ser2049Asn) c.1145G>A (p.Ser382Asn) c.*1909G>A (n.*1909G>A) c.1453G>A n.266G>A | |
| 15 | g.48441739del | CA2740096628 | FBN1 | c.6145del (p.Ser2049ValfsTer10) c.1144del (p.Ser382ValfsTer10) c.*1908del (n.*1908del) c.1452del n.265del | ClinVar |
| 15 | g.48441739T>A | CA392338003 | FBN1 | c.6145A>T (p.Ser2049Cys) c.1144A>T (p.Ser382Cys) c.*1908A>T (n.*1908A>T) c.1452A>T n.265A>T | |
| 15 | g.48441739T>C | CA392338004 | FBN1 | c.6145A>G (p.Ser2049Gly) c.1144A>G (p.Ser382Gly) c.*1908A>G (n.*1908A>G) c.1452A>G n.265A>G | ClinVar dbSNP |
| 15 | g.48441739T>G | CA392338005 | FBN1 | c.6145A>C (p.Ser2049Arg) c.1144A>C (p.Ser382Arg) c.*1908A>C (n.*1908A>C) c.1452A>C n.265A>C | ClinVar dbSNP |
| 15 | g.48441739T= | CA2175508661 | FBN1 | c.6145A= (p.Ser2049=) c.1144A= (p.Ser382=) c.*1908A= (n.*1908A=) c.1452A= n.265A= | |
| 15 | g.48441740G>A | CA490021360 | FBN1 | c.6144C>T (p.Ser2048=) c.1143C>T (p.Ser381=) c.*1907C>T (n.*1907C>T) c.1451C>T n.264C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441740G>C | CA490021356 | FBN1 | c.6144C>G (p.Ser2048=) c.1143C>G (p.Ser381=) c.*1907C>G (n.*1907C>G) c.1451C>G n.264C>G | |
| 15 | g.48441740G= | CA2175508665 | FBN1 | c.6144C= (p.Ser2048=) c.1143C= (p.Ser381=) c.*1907C= (n.*1907C=) c.1451C= n.264C= | |
| 15 | g.48441740G>T | CA490021355 | FBN1 | c.6144C>A (p.Ser2048=) c.1143C>A (p.Ser381=) c.*1907C>A (n.*1907C>A) c.1451C>A n.264C>A | |
| 15 | g.48441741G>A | CA392338006 | FBN1 | c.6143C>T (p.Ser2048Phe) c.1142C>T (p.Ser381Phe) c.*1906C>T (n.*1906C>T) c.1450C>T n.263C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48441741G>C | CA392338008 | FBN1 | c.6143C>G (p.Ser2048Cys) c.1142C>G (p.Ser381Cys) c.*1906C>G (n.*1906C>G) c.1450C>G n.263C>G | |
| 15 | g.48441741G= | CA2175508670 | FBN1 | c.6143C= (p.Ser2048=) c.1142C= (p.Ser381=) c.*1906C= (n.*1906C=) c.1450C= n.263C= | |
| 15 | g.48441741G>T | CA392338010 | FBN1 | c.6143C>A (p.Ser2048Tyr) c.1142C>A (p.Ser381Tyr) c.*1906C>A (n.*1906C>A) c.1450C>A n.263C>A | |
| 15 | g.48441742A>C | CA392338020 | FBN1 | c.6142T>G (p.Ser2048Ala) c.1141T>G (p.Ser381Ala) c.*1905T>G (n.*1905T>G) c.1449T>G n.262T>G | |
| 15 | g.48441742A>G | CA392338022 | FBN1 | c.6142T>C (p.Ser2048Pro) c.1141T>C (p.Ser381Pro) c.*1905T>C (n.*1905T>C) c.1449T>C n.262T>C | |
| 15 | g.48441742A>T | CA392338024 | FBN1 | c.6142T>A (p.Ser2048Thr) c.1141T>A (p.Ser381Thr) c.*1905T>A (n.*1905T>A) c.1449T>A n.262T>A | |
| 15 | g.48441743G>A | CA490021385 | FBN1 | c.6141C>T (p.Ser2047=) c.1140C>T (p.Ser380=) c.*1904C>T (n.*1904C>T) c.1448C>T n.261C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48441743G>C | CA490021390 | FBN1 | c.6141C>G (p.Ser2047=) c.1140C>G (p.Ser380=) c.*1904C>G (n.*1904C>G) c.1448C>G n.261C>G | |
| 15 | g.48441743G>T | CA490021388 | FBN1 | c.6141C>A (p.Ser2047=) c.1140C>A (p.Ser380=) c.*1904C>A (n.*1904C>A) c.1448C>A n.261C>A | |
| 15 | g.48441744G>A | CA16614801 | FBN1 | c.6140C>T (p.Ser2047Phe) c.1139C>T (p.Ser380Phe) c.*1903C>T (n.*1903C>T) c.1447C>T n.260C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48441744G>C | CA392338027 | FBN1 | c.6140C>G (p.Ser2047Cys) c.1139C>G (p.Ser380Cys) c.*1903C>G (n.*1903C>G) c.1447C>G n.260C>G | |
| 15 | g.48441744G= | CA2175508684 | FBN1 | c.6140C= (p.Ser2047=) c.1139C= (p.Ser380=) c.*1903C= (n.*1903C=) c.1447C= n.260C= | |
| 15 | g.48441744G>T | CA392338030 | FBN1 | c.6140C>A (p.Ser2047Tyr) c.1139C>A (p.Ser380Tyr) c.*1903C>A (n.*1903C>A) c.1447C>A n.260C>A | |
| 15 | g.48441744_48441745delinsGA | CA2175508681 | FBN1 | c.6139_6140delinsTC (p.Ser2047=) c.1138_1139delinsTC (p.Ser380=) c.*1902_*1903delinsTC (n.*1902_*1903delinsTC) c.1446_1447delinsTC n.259_260delinsTC | |
| 15 | g.48441745del | CA916082413 | FBN1 | c.6139del (p.Ser2047ProfsTer12) c.1138del (p.Ser380ProfsTer12) c.*1902del (n.*1902del) c.1446del n.259del | ClinVar dbSNP |
| 15 | g.48441745A= | CA2175508699 | FBN1 | c.6139T= (p.Ser2047=) c.1138T= (p.Ser380=) c.*1902T= (n.*1902T=) c.1446T= n.259T= | |
| 15 | g.48441745A>C | CA392338036 | FBN1 | c.6139T>G (p.Ser2047Ala) c.1138T>G (p.Ser380Ala) c.*1902T>G (n.*1902T>G) c.1446T>G n.259T>G | |
| 15 | g.48441745A>G | CA392338032 | FBN1 | c.6139T>C (p.Ser2047Pro) c.1138T>C (p.Ser380Pro) c.*1902T>C (n.*1902T>C) c.1446T>C n.259T>C | ClinVar dbSNP COSMIC |
| 15 | g.48441745A>T | CA392338034 | FBN1 | c.6139T>A (p.Ser2047Thr) c.1138T>A (p.Ser380Thr) c.*1902T>A (n.*1902T>A) c.1446T>A n.259T>A | |
| 15 | g.48441746C>A | CA392338039 | FBN1 | c.6138G>T (p.Leu2046Phe) c.1137G>T (p.Leu379Phe) c.*1901G>T (n.*1901G>T) c.1445G>T n.258G>T | gnomAD v4 |
| 15 | g.48441746C>G | CA392338045 | FBN1 | c.6138G>C (p.Leu2046Phe) c.1137G>C (p.Leu379Phe) c.*1901G>C (n.*1901G>C) c.1445G>C n.258G>C | |
| 15 | g.48441746C>T | CA490021418 | FBN1 | c.6138G>A (p.Leu2046=) c.1137G>A (p.Leu379=) c.*1901G>A (n.*1901G>A) c.1445G>A n.258G>A | |
| 15 | g.48441747A>C | CA392338046 | FBN1 | c.6137T>G (p.Leu2046Trp) c.1136T>G (p.Leu379Trp) c.*1900T>G (n.*1900T>G) c.1444T>G n.257T>G | gnomAD v4 |
| 15 | g.48441747A>G | CA392338048 | FBN1 | c.6137T>C (p.Leu2046Ser) c.1136T>C (p.Leu379Ser) c.*1900T>C (n.*1900T>C) c.1444T>C n.257T>C | |
| 15 | g.48441747A>T | CA392338050 | FBN1 | c.6137T>A (p.Leu2046Ter) c.1136T>A (p.Leu379Ter) c.*1900T>A (n.*1900T>A) c.1444T>A n.257T>A | |
| 15 | g.48441748A= | CA2175508719 | FBN1 | c.6136T= (p.Leu2046=) c.1135T= (p.Leu379=) c.*1899T= (n.*1899T=) c.1443T= n.256T= | |
| 15 | g.48441748A>C | CA392338054 | FBN1 | c.6136T>G (p.Leu2046Val) c.1135T>G (p.Leu379Val) c.*1899T>G (n.*1899T>G) c.1443T>G n.256T>G | |
| 15 | g.48441748A>G | CA056281 | FBN1 | c.6136T>C (p.Leu2046=) c.1135T>C (p.Leu379=) c.*1899T>C (n.*1899T>C) c.1443T>C n.256T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48441748A>T | CA392338057 | FBN1 | c.6136T>A (p.Leu2046Met) c.1135T>A (p.Leu379Met) c.*1899T>A (n.*1899T>A) c.1443T>A n.256T>A | |
| 15 | g.48441749G>A | CA490021441 | FBN1 | c.6135C>T (p.Ser2045=) c.1134C>T (p.Ser378=) c.*1898C>T (n.*1898C>T) c.1442C>T n.255C>T | dbSNP |
| 15 | g.48441749G>C | CA490021443 | FBN1 | c.6135C>G (p.Ser2045=) c.1134C>G (p.Ser378=) c.*1898C>G (n.*1898C>G) c.1442C>G n.255C>G | |
| 15 | g.48441749G= | CA2175508725 | FBN1 | c.6135C= (p.Ser2045=) c.1134C= (p.Ser378=) c.*1898C= (n.*1898C=) c.1442C= n.255C= | |
| 15 | g.48441749G>T | CA490021445 | FBN1 | c.6135C>A (p.Ser2045=) c.1134C>A (p.Ser378=) c.*1898C>A (n.*1898C>A) c.1442C>A n.255C>A | |
| 15 | g.48441750G>A | CA392338060 | FBN1 | c.6134C>T (p.Ser2045Phe) c.1133C>T (p.Ser378Phe) c.*1897C>T (n.*1897C>T) c.1441C>T n.254C>T | ClinVar dbSNP |
| 15 | g.48441750G>C | CA392338063 | FBN1 | c.6134C>G (p.Ser2045Cys) c.1133C>G (p.Ser378Cys) c.*1897C>G (n.*1897C>G) c.1441C>G n.254C>G | |
| 15 | g.48441750G= | CA2175508731 | FBN1 | c.6134C= (p.Ser2045=) c.1133C= (p.Ser378=) c.*1897C= (n.*1897C=) c.1441C= n.254C= | |
| 15 | g.48441750G>T | CA392338065 | FBN1 | c.6134C>A (p.Ser2045Tyr) c.1133C>A (p.Ser378Tyr) c.*1897C>A (n.*1897C>A) c.1441C>A n.254C>A | |
| 15 | g.48441751A>C | CA392338071 | FBN1 | c.6133T>G (p.Ser2045Ala) c.1132T>G (p.Ser378Ala) c.*1896T>G (n.*1896T>G) c.1440T>G n.253T>G | |
| 15 | g.48441751A>G | CA392338072 | FBN1 | c.6133T>C (p.Ser2045Pro) c.1132T>C (p.Ser378Pro) c.*1896T>C (n.*1896T>C) c.1440T>C n.253T>C | gnomAD v4 |
| 15 | g.48441751A>T | CA392338069 | FBN1 | c.6133T>A (p.Ser2045Thr) c.1132T>A (p.Ser378Thr) c.*1896T>A (n.*1896T>A) c.1440T>A n.253T>A | |
| 15 | g.48441752A>C | CA392338077 | FBN1 | c.6132T>G (p.Phe2044Leu) c.1131T>G (p.Phe377Leu) c.*1895T>G (n.*1895T>G) c.1439T>G n.252T>G | |
| 15 | g.48441752A>G | CA490021468 | FBN1 | c.6132T>C (p.Phe2044=) c.1131T>C (p.Phe377=) c.*1895T>C (n.*1895T>C) c.1439T>C n.252T>C | gnomAD v4 |
| 15 | g.48441752A>T | CA392338080 | FBN1 | c.6132T>A (p.Phe2044Leu) c.1131T>A (p.Phe377Leu) c.*1895T>A (n.*1895T>A) c.1439T>A n.252T>A | |
| 15 | g.48441753A>C | CA392338082 | FBN1 | c.6131T>G (p.Phe2044Cys) c.1130T>G (p.Phe377Cys) c.*1894T>G (n.*1894T>G) c.1438T>G n.251T>G | |
| 15 | g.48441753A>G | CA392338084 | FBN1 | c.6131T>C (p.Phe2044Ser) c.1130T>C (p.Phe377Ser) c.*1894T>C (n.*1894T>C) c.1438T>C n.251T>C | |
| 15 | g.48441753A>T | CA392338087 | FBN1 | c.6131T>A (p.Phe2044Tyr) c.1130T>A (p.Phe377Tyr) c.*1894T>A (n.*1894T>A) c.1438T>A n.251T>A | |
| 15 | g.48441753_48441763delinsAACCCTTCTGG | CA2175508738 | FBN1 | c.6121_6131delinsCCAGAAGGGTT (p.Pro2041=) c.1120_1130delinsCCAGAAGGGTT (p.Pro374=) c.*1884_*1894delinsCCAGAAGGGTT (n.*1884_*1894delinsCCAGAAGGGTT) c.1428_1438delinsCCAGAAGGGTT n.241_251delinsCCAGAAGGGTT | |
| 15 | g.48441754A= | CA2175508752 | FBN1 | c.6130T= (p.Phe2044=) c.1129T= (p.Phe377=) c.*1893T= (n.*1893T=) c.1437T= n.250T= | |
| 15 | g.48441754A>C | CA392338092 | FBN1 | c.6130T>G (p.Phe2044Val) c.1129T>G (p.Phe377Val) c.*1893T>G (n.*1893T>G) c.1437T>G n.250T>G | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48441754A>G | CA392338094 | FBN1 | c.6130T>C (p.Phe2044Leu) c.1129T>C (p.Phe377Leu) c.*1893T>C (n.*1893T>C) c.1437T>C n.250T>C | |
| 15 | g.48441754A>T | CA392338097 | FBN1 | c.6130T>A (p.Phe2044Ile) c.1129T>A (p.Phe377Ile) c.*1893T>A (n.*1893T>A) c.1437T>A n.250T>A | |
| 15 | g.48441754_48441755delinsAC | CA2175508749 | FBN1 | c.6129_6130delinsGT (p.Gly2043=) c.1128_1129delinsGT (p.Gly376=) c.*1892_*1893delinsGT (n.*1892_*1893delinsGT) c.1436_1437delinsGT n.249_250delinsGT | |
| 15 | g.48441756_48441765del | CA916082414 | FBN1 | c.6121_6130del (p.Pro2041PhefsTer15) c.1120_1129del (p.Pro374PhefsTer15) c.*1884_*1893del (n.*1884_*1893del) c.1428_1437del n.241_250del | ClinVar dbSNP |
| 15 | g.48441755C>A | CA490021483 | FBN1 | c.6129G>T (p.Gly2043=) c.1128G>T (p.Gly376=) c.*1892G>T (n.*1892G>T) c.1436G>T n.249G>T | ClinVar |
| 15 | g.48441755C= | CA2175508771 | FBN1 | c.6129G= (p.Gly2043=) c.1128G= (p.Gly376=) c.*1892G= (n.*1892G=) c.1436G= n.249G= | |
| 15 | g.48441755C>G | CA056272 | FBN1 | c.6129G>C (p.Gly2043=) c.1128G>C (p.Gly376=) c.*1892G>C (n.*1892G>C) c.1436G>C n.249G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48441755C>T | CA490021488 | FBN1 | c.6129G>A (p.Gly2043=) c.1128G>A (p.Gly376=) c.*1892G>A (n.*1892G>A) c.1436G>A n.249G>A | gnomAD v4 |
| 15 | g.48441757del | CA016254 | FBN1 | c.6129del (p.Ser2045ProfsTer14) c.1128del (p.Ser378ProfsTer14) c.*1892del (n.*1892del) c.1436del n.249del | ClinVar dbSNP |
| 15 | g.48441756C>A | CA392338102 | FBN1 | c.6128G>T (p.Gly2043Val) c.1127G>T (p.Gly376Val) c.*1891G>T (n.*1891G>T) c.1435G>T n.248G>T | |
| 15 | g.48441756C>G | CA392338106 | FBN1 | c.6128G>C (p.Gly2043Ala) c.1127G>C (p.Gly376Ala) c.*1891G>C (n.*1891G>C) c.1435G>C n.248G>C | |
| 15 | g.48441756C>T | CA392338109 | FBN1 | c.6128G>A (p.Gly2043Glu) c.1127G>A (p.Gly376Glu) c.*1891G>A (n.*1891G>A) c.1435G>A n.248G>A | |
| 15 | g.48441757C>A | CA392338114 | FBN1 | c.6127G>T (p.Gly2043Trp) c.1126G>T (p.Gly376Trp) c.*1890G>T (n.*1890G>T) c.1434G>T n.247G>T | |
| 15 | g.48441757C= | CA2175508778 | FBN1 | c.6127G= (p.Gly2043=) c.1126G= (p.Gly376=) c.*1890G= (n.*1890G=) c.1434G= n.247G= | |
| 15 | g.48441757C>G | CA392338112 | FBN1 | c.6127G>C (p.Gly2043Arg) c.1126G>C (p.Gly376Arg) c.*1890G>C (n.*1890G>C) c.1434G>C n.247G>C | |
| 15 | g.48441757C>T | CA269530712 | FBN1 | c.6127G>A (p.Gly2043Arg) c.1126G>A (p.Gly376Arg) c.*1890G>A (n.*1890G>A) c.1434G>A n.247G>A | dbSNP |
| 15 | g.48441758T>A | CA392338117 | FBN1 | c.6126A>T (p.Glu2042Asp) c.1125A>T (p.Glu375Asp) c.*1889A>T (n.*1889A>T) c.1433A>T n.246A>T | |
| 15 | g.48441758T>C | CA490021516 | FBN1 | c.6126A>G (p.Glu2042=) c.1125A>G (p.Glu375=) c.*1889A>G (n.*1889A>G) c.1433A>G n.246A>G | |
| 15 | g.48441758T>G | CA392338120 | FBN1 | c.6126A>C (p.Glu2042Asp) c.1125A>C (p.Glu375Asp) c.*1889A>C (n.*1889A>C) c.1433A>C n.246A>C | |
| 15 | g.48441759del | CA2740096629 | FBN1 | c.6126del (p.Ser2045ProfsTer14) c.1125del (p.Ser378ProfsTer14) c.*1889del (n.*1889del) c.1433del n.246del | ClinVar |
| 15 | g.48441759T>A | CA392338124 | FBN1 | c.6125A>T (p.Glu2042Val) c.1124A>T (p.Glu375Val) c.*1888A>T (n.*1888A>T) c.1432A>T n.245A>T | |
| 15 | g.48441759T>C | CA392338127 | FBN1 | c.6125A>G (p.Glu2042Gly) c.1124A>G (p.Glu375Gly) c.*1888A>G (n.*1888A>G) c.1432A>G n.245A>G | |
| 15 | g.48441759T>G | CA392338129 | FBN1 | c.6125A>C (p.Glu2042Ala) c.1124A>C (p.Glu375Ala) c.*1888A>C (n.*1888A>C) c.1432A>C n.245A>C | |
| 15 | g.48441760C>A | CA392338132 | FBN1 | c.6124G>T (p.Glu2042Ter) c.1123G>T (p.Glu375Ter) c.*1887G>T (n.*1887G>T) c.1431G>T n.244G>T | |
| 15 | g.48441760C= | CA2175508781 | FBN1 | c.6124G= (p.Glu2042=) c.1123G= (p.Glu375=) c.*1887G= (n.*1887G=) c.1431G= n.244G= | |
| 15 | g.48441760C>G | CA392338134 | FBN1 | c.6124G>C (p.Glu2042Gln) c.1123G>C (p.Glu375Gln) c.*1887G>C (n.*1887G>C) c.1431G>C n.244G>C | |
| 15 | g.48441760C>T | CA392338137 | FBN1 | c.6124G>A (p.Glu2042Lys) c.1123G>A (p.Glu375Lys) c.*1887G>A (n.*1887G>A) c.1431G>A n.244G>A | dbSNP COSMIC |
| 15 | g.48441761T>A | CA490021523 | FBN1 | c.6123A>T (p.Pro2041=) c.1122A>T (p.Pro374=) c.*1886A>T (n.*1886A>T) c.1430A>T n.243A>T | |
| 15 | g.48441761T>C | CA490021524 | FBN1 | c.6123A>G (p.Pro2041=) c.1122A>G (p.Pro374=) c.*1886A>G (n.*1886A>G) c.1430A>G n.243A>G | ClinVar gnomAD v4 |
| 15 | g.48441761T>G | CA490021526 | FBN1 | c.6123A>C (p.Pro2041=) c.1122A>C (p.Pro374=) c.*1886A>C (n.*1886A>C) c.1430A>C n.243A>C | |
| 15 | g.48441762G>A | CA392338141 | FBN1 | c.6122C>T (p.Pro2041Leu) c.1121C>T (p.Pro374Leu) c.*1885C>T (n.*1885C>T) c.1429C>T n.242C>T | ClinVar |
| 15 | g.48441762G>C | CA392338142 | FBN1 | c.6122C>G (p.Pro2041Arg) c.1121C>G (p.Pro374Arg) c.*1885C>G (n.*1885C>G) c.1429C>G n.242C>G | |
| 15 | g.48441762G>T | CA392338145 | FBN1 | c.6122C>A (p.Pro2041Gln) c.1121C>A (p.Pro374Gln) c.*1885C>A (n.*1885C>A) c.1429C>A n.242C>A | |
| 15 | g.48441763G>A | CA392338150 | FBN1 | c.6121C>T (p.Pro2041Ser) c.1120C>T (p.Pro374Ser) c.*1884C>T (n.*1884C>T) c.1428C>T n.241C>T | gnomAD v4 |
| 15 | g.48441763G>C | CA392338152 | FBN1 | c.6121C>G (p.Pro2041Ala) c.1120C>G (p.Pro374Ala) c.*1884C>G (n.*1884C>G) c.1428C>G n.241C>G | |
| 15 | g.48441763G>T | CA392338156 | FBN1 | c.6121C>A (p.Pro2041Thr) c.1120C>A (p.Pro374Thr) c.*1884C>A (n.*1884C>A) c.1428C>A n.241C>A | |
| 15 | g.48441763_48441765delinsGAC | CA2175508786 | FBN1 | c.6119_6121delinsGTC (p.Cys2040=) c.1118_1120delinsGTC (p.Cys373=) c.*1882_*1884delinsGTC (n.*1882_*1884delinsGTC) c.1426_1428delinsGTC n.239_241delinsGTC | |
| 15 | g.48441764A= | CA2175508811 | FBN1 | c.6120T= (p.Cys2040=) c.1119T= (p.Cys373=) c.*1883T= (n.*1883T=) c.1427T= n.240T= | |
| 15 | g.48441764A>C | CA392338159 | FBN1 | c.6120T>G (p.Cys2040Trp) c.1119T>G (p.Cys373Trp) c.*1883T>G (n.*1883T>G) c.1427T>G n.240T>G | ClinVar |
| 15 | g.48441764A>G | CA016244 | FBN1 | c.6120T>C (p.Cys2040=) c.1119T>C (p.Cys373=) c.*1883T>C (n.*1883T>C) c.1427T>C n.240T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48441764A>T | CA392338158 | FBN1 | c.6120T>A (p.Cys2040Ter) c.1119T>A (p.Cys373Ter) c.*1883T>A (n.*1883T>A) c.1427T>A n.240T>A | |
| 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.48441765C>A | CA392338163 | FBN1 | c.6119G>T (p.Cys2040Phe) c.1118G>T (p.Cys373Phe) c.*1882G>T (n.*1882G>T) c.1426G>T n.239G>T | ClinVar |
| 15 | g.48441765C= | CA2175508820 | FBN1 | c.6119G= (p.Cys2040=) c.1118G= (p.Cys373=) c.*1882G= (n.*1882G=) c.1426G= n.239G= | |
| 15 | g.48441765C>G | CA392338164 | FBN1 | c.6119G>C (p.Cys2040Ser) c.1118G>C (p.Cys373Ser) c.*1882G>C (n.*1882G>C) c.1426G>C n.239G>C | |
| 15 | g.48441765C>T | CA016237 | FBN1 | c.6119G>A (p.Cys2040Tyr) c.1118G>A (p.Cys373Tyr) c.*1882G>A (n.*1882G>A) c.1426G>A n.239G>A | ClinVar dbSNP |
| 15 | g.48441766A= | CA2175508830 | FBN1 | c.6118T= (p.Cys2040=) c.1117T= (p.Cys373=) c.*1881T= (n.*1881T=) c.1425T= n.238T= | |
| 15 | g.48441766A>C | CA392338169 | FBN1 | c.6118T>G (p.Cys2040Gly) c.1117T>G (p.Cys373Gly) c.*1881T>G (n.*1881T>G) c.1425T>G n.238T>G | |
| 15 | g.48441766A>G | CA392338170 | FBN1 | c.6118T>C (p.Cys2040Arg) c.1117T>C (p.Cys373Arg) c.*1881T>C (n.*1881T>C) c.1425T>C n.238T>C | ClinVar dbSNP |
| 15 | g.48441766A>T | CA392338173 | FBN1 | c.6118T>A (p.Cys2040Ser) c.1117T>A (p.Cys373Ser) c.*1881T>A (n.*1881T>A) c.1425T>A n.238T>A | |
| 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 | |
| 15 | g.48441780C>G | CA392338268 | FBN1 | c.6104G>C (p.Ser2035Thr) c.1103G>C (p.Ser368Thr) c.*1867G>C (n.*1867G>C) c.1411G>C n.224G>C | |
| 15 | g.48441780C>T | CA392338270 | FBN1 | c.6104G>A (p.Ser2035Asn) c.1103G>A (p.Ser368Asn) c.*1867G>A (n.*1867G>A) c.1411G>A n.224G>A | |
| 15 | g.48441781T>A | CA392338275 | FBN1 | c.6103A>T (p.Ser2035Cys) c.1102A>T (p.Ser368Cys) c.*1866A>T (n.*1866A>T) c.1410A>T n.223A>T | |
| 15 | g.48441781T>C | CA392338279 | FBN1 | c.6103A>G (p.Ser2035Gly) c.1102A>G (p.Ser368Gly) c.*1866A>G (n.*1866A>G) c.1410A>G n.223A>G | |
| 15 | g.48441781T>G | CA392338277 | FBN1 | c.6103A>C (p.Ser2035Arg) c.1102A>C (p.Ser368Arg) c.*1866A>C (n.*1866A>C) c.1410A>C n.223A>C | |
| 15 | g.48441782G>A | CA056241 | FBN1 | c.6102C>T (p.Gly2034=) c.1101C>T (p.Gly367=) c.*1865C>T (n.*1865C>T) c.1409C>T n.222C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48441782G>C | CA490021590 | FBN1 | c.6102C>G (p.Gly2034=) c.1101C>G (p.Gly367=) c.*1865C>G (n.*1865C>G) c.1409C>G n.222C>G | |
| 15 | g.48441782G= | CA2175508884 | FBN1 | c.6102C= (p.Gly2034=) c.1101C= (p.Gly367=) c.*1865C= (n.*1865C=) c.1409C= n.222C= | |
| 15 | g.48441782G>T | CA490021591 | FBN1 | c.6102C>A (p.Gly2034=) c.1101C>A (p.Gly367=) c.*1865C>A (n.*1865C>A) c.1409C>A n.222C>A | |
| 15 | g.48441783C>A | CA392338284 | FBN1 | c.6101G>T (p.Gly2034Val) c.1100G>T (p.Gly367Val) c.*1864G>T (n.*1864G>T) c.1408G>T n.221G>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48441783C= | CA2175508890 | FBN1 | c.6101G= (p.Gly2034=) c.1100G= (p.Gly367=) c.*1864G= (n.*1864G=) c.1408G= n.221G= | |
| 15 | g.48441783C>G | CA392338287 | FBN1 | c.6101G>C (p.Gly2034Ala) c.1100G>C (p.Gly367Ala) c.*1864G>C (n.*1864G>C) c.1408G>C n.221G>C | |
| 15 | g.48441783C>T | CA392338289 | FBN1 | c.6101G>A (p.Gly2034Asp) c.1100G>A (p.Gly367Asp) c.*1864G>A (n.*1864G>A) c.1408G>A n.221G>A | |
| 15 | g.48441784C>A | CA392338293 | FBN1 | c.6100G>T (p.Gly2034Cys) c.1099G>T (p.Gly367Cys) c.*1863G>T (n.*1863G>T) c.1407G>T n.220G>T | |
| 15 | g.48441784C>G | CA392338299 | FBN1 | c.6100G>C (p.Gly2034Arg) c.1099G>C (p.Gly367Arg) c.*1863G>C (n.*1863G>C) c.1407G>C n.220G>C | |
| 15 | g.48441784C>T | CA392338296 | FBN1 | c.6100G>A (p.Gly2034Ser) c.1099G>A (p.Gly367Ser) c.*1863G>A (n.*1863G>A) c.1407G>A n.220G>A | |
| 15 | g.48441785T>A | CA392338306 | FBN1 | c.6099A>T (p.Glu2033Asp) c.1098A>T (p.Glu366Asp) c.*1862A>T (n.*1862A>T) c.1406A>T n.219A>T | |
| 15 | g.48441785T>C | CA490021594 | FBN1 | c.6099A>G (p.Glu2033=) c.1098A>G (p.Glu366=) c.*1862A>G (n.*1862A>G) c.1406A>G n.219A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48441785T>G | CA392338309 | FBN1 | c.6099A>C (p.Glu2033Asp) c.1098A>C (p.Glu366Asp) c.*1862A>C (n.*1862A>C) c.1406A>C n.219A>C | |
| 15 | g.48441785T= | CA2175508898 | FBN1 | c.6099A= (p.Glu2033=) c.1098A= (p.Glu366=) c.*1862A= (n.*1862A=) c.1406A= n.219A= | |
| 15 | g.48441786T>A | CA392338313 | FBN1 | c.6098A>T (p.Glu2033Val) c.1097A>T (p.Glu366Val) c.*1861A>T (n.*1861A>T) c.1405A>T n.218A>T | |
| 15 | g.48441786T>C | CA392338315 | FBN1 | c.6098A>G (p.Glu2033Gly) c.1097A>G (p.Glu366Gly) c.*1861A>G (n.*1861A>G) c.1405A>G n.218A>G | |
| 15 | g.48441786T>G | CA392338318 | FBN1 | c.6098A>C (p.Glu2033Ala) c.1097A>C (p.Glu366Ala) c.*1861A>C (n.*1861A>C) c.1405A>C n.218A>C | |
| 15 | g.48441787C>A | CA392338321 | FBN1 | c.6097G>T (p.Glu2033Ter) c.1096G>T (p.Glu366Ter) c.*1860G>T (n.*1860G>T) c.1404G>T n.217G>T | |
| 15 | g.48441787C= | CA2175508909 | FBN1 | c.6097G= (p.Glu2033=) c.1096G= (p.Glu366=) c.*1860G= (n.*1860G=) c.1404G= n.217G= | |
| 15 | g.48441787C>G | CA392338323 | FBN1 | c.6097G>C (p.Glu2033Gln) c.1096G>C (p.Glu366Gln) c.*1860G>C (n.*1860G>C) c.1404G>C n.217G>C | |
| 15 | g.48441787C>T | CA392338325 | FBN1 | c.6097G>A (p.Glu2033Lys) c.1096G>A (p.Glu366Lys) c.*1860G>A (n.*1860G>A) c.1404G>A n.217G>A | ClinVar dbSNP |
| 15 | g.48441788A>C | CA490021596 | FBN1 | c.6096T>G (p.Thr2032=) c.1095T>G (p.Thr365=) c.*1859T>G (n.*1859T>G) c.1403T>G n.216T>G | |
| 15 | g.48441788A>G | CA490021598 | FBN1 | c.6096T>C (p.Thr2032=) c.1095T>C (p.Thr365=) c.*1859T>C (n.*1859T>C) c.1403T>C n.216T>C | |
| 15 | g.48441788A>T | CA490021599 | FBN1 | c.6096T>A (p.Thr2032=) c.1095T>A (p.Thr365=) c.*1859T>A (n.*1859T>A) c.1403T>A n.216T>A | |
| 15 | g.48441789G>A | CA392338330 | FBN1 | c.6095C>T (p.Thr2032Ile) c.1094C>T (p.Thr365Ile) c.*1858C>T (n.*1858C>T) c.1402C>T n.215C>T | gnomAD v4 |
| 15 | g.48441789G>C | CA056223 | FBN1 | c.6095C>G (p.Thr2032Ser) c.1094C>G (p.Thr365Ser) c.*1858C>G (n.*1858C>G) c.1402C>G n.215C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441789G= | CA2175508913 | FBN1 | c.6095C= (p.Thr2032=) c.1094C= (p.Thr365=) c.*1858C= (n.*1858C=) c.1402C= n.215C= | |
| 15 | g.48441789G>T | CA392338332 | FBN1 | c.6095C>A (p.Thr2032Asn) c.1094C>A (p.Thr365Asn) c.*1858C>A (n.*1858C>A) c.1402C>A n.215C>A | |
| 15 | g.48441790T>A | CA056215 | FBN1 | c.6094A>T (p.Thr2032Ser) c.1093A>T (p.Thr365Ser) c.*1857A>T (n.*1857A>T) c.1401A>T n.214A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48441790T>C | CA392338340 | FBN1 | c.6094A>G (p.Thr2032Ala) c.1093A>G (p.Thr365Ala) c.*1857A>G (n.*1857A>G) c.1401A>G n.214A>G | ClinVar |
| 15 | g.48441790T>G | CA392338338 | FBN1 | c.6094A>C (p.Thr2032Pro) c.1093A>C (p.Thr365Pro) c.*1857A>C (n.*1857A>C) c.1401A>C n.214A>C | |
| 15 | g.48441790T= | CA2175508922 | FBN1 | c.6094A= (p.Thr2032=) c.1093A= (p.Thr365=) c.*1857A= (n.*1857A=) c.1401A= n.214A= | |
| 15 | g.48441791G>A | CA490021602 | FBN1 | c.6093C>T (p.Asn2031=) c.1092C>T (p.Asn364=) c.*1856C>T (n.*1856C>T) c.1400C>T n.213C>T | |
| 15 | g.48441791G>C | CA392338344 | FBN1 | c.6093C>G (p.Asn2031Lys) c.1092C>G (p.Asn364Lys) c.*1856C>G (n.*1856C>G) c.1400C>G n.213C>G | |
| 15 | g.48441791G>T | CA392338346 | FBN1 | c.6093C>A (p.Asn2031Lys) c.1092C>A (p.Asn364Lys) c.*1856C>A (n.*1856C>A) c.1400C>A n.213C>A | |
| 15 | g.48441792T>A | CA392338350 | FBN1 | c.6092A>T (p.Asn2031Ile) c.1091A>T (p.Asn364Ile) c.*1855A>T (n.*1855A>T) c.1399A>T n.212A>T | |
| 15 | g.48441792T>C | CA392338352 | FBN1 | c.6092A>G (p.Asn2031Ser) c.1091A>G (p.Asn364Ser) c.*1855A>G (n.*1855A>G) c.1399A>G n.212A>G | |
| 15 | g.48441792T>G | CA392338355 | FBN1 | c.6092A>C (p.Asn2031Thr) c.1091A>C (p.Asn364Thr) c.*1855A>C (n.*1855A>C) c.1399A>C n.212A>C | |
| 15 | g.48441793T>A | CA392338357 | FBN1 | c.6091A>T (p.Asn2031Tyr) c.1090A>T (p.Asn364Tyr) c.*1854A>T (n.*1854A>T) c.1398A>T n.211A>T | |
| 15 | g.48441793T>C | CA392338360 | FBN1 | c.6091A>G (p.Asn2031Asp) c.1090A>G (p.Asn364Asp) c.*1854A>G (n.*1854A>G) c.1398A>G n.211A>G | |
| 15 | g.48441793T>G | CA392338363 | FBN1 | c.6091A>C (p.Asn2031His) c.1090A>C (p.Asn364His) c.*1854A>C (n.*1854A>C) c.1398A>C n.211A>C | |
| 15 | g.48441793T= | CA2175508925 | FBN1 | c.6091A= (p.Asn2031=) c.1090A= (p.Asn364=) c.*1854A= (n.*1854A=) c.1398A= n.211A= | |
| 15 | g.48441794A>C | CA392338366 | FBN1 | c.6090T>G (p.Ser2030Arg) c.1089T>G (p.Ser363Arg) c.*1853T>G (n.*1853T>G) c.1397T>G n.210T>G | |
| 15 | g.48441794A>G | CA490021607 | FBN1 | c.6090T>C (p.Ser2030=) c.1089T>C (p.Ser363=) c.*1853T>C (n.*1853T>C) c.1397T>C n.210T>C | |
| 15 | g.48441794A>T | CA392338369 | FBN1 | c.6090T>A (p.Ser2030Arg) c.1089T>A (p.Ser363Arg) c.*1853T>A (n.*1853T>A) c.1397T>A n.210T>A | |
| 15 | g.48441794dup | CA645584726 | FBN1 | c.6090dup (p.Asn2031Ter) c.1089dup (p.Asn364Ter) c.*1853dup (n.*1853dup) c.1397dup n.210dup | ClinVar dbSNP COSMIC |
| 15 | g.48441795C>A | CA392338372 | FBN1 | c.6089G>T (p.Ser2030Ile) c.1088G>T (p.Ser363Ile) c.*1852G>T (n.*1852G>T) c.1396G>T n.209G>T | |
| 15 | g.48441795C= | CA2175508932 | FBN1 | c.6089G= (p.Ser2030=) c.1088G= (p.Ser363=) c.*1852G= (n.*1852G=) c.1396G= n.209G= | |
| 15 | g.48441795C>G | CA056208 | FBN1 | c.6089G>C (p.Ser2030Thr) c.1088G>C (p.Ser363Thr) c.*1852G>C (n.*1852G>C) c.1396G>C n.209G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48441795C>T | CA392338376 | FBN1 | c.6089G>A (p.Ser2030Asn) c.1088G>A (p.Ser363Asn) c.*1852G>A (n.*1852G>A) c.1396G>A n.209G>A | |
| 15 | g.48441796T>A | CA392338388 | FBN1 | c.6088A>T (p.Ser2030Cys) c.1087A>T (p.Ser363Cys) c.*1851A>T (n.*1851A>T) c.1395A>T n.208A>T | |
| 15 | g.48441796T>C | CA392338383 | FBN1 | c.6088A>G (p.Ser2030Gly) c.1087A>G (p.Ser363Gly) c.*1851A>G (n.*1851A>G) c.1395A>G n.208A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48441796T>G | CA392338382 | FBN1 | c.6088A>C (p.Ser2030Arg) c.1087A>C (p.Ser363Arg) c.*1851A>C (n.*1851A>C) c.1395A>C n.208A>C | |
| 15 | g.48441796T= | CA2175508939 | FBN1 | c.6088A= (p.Ser2030=) c.1087A= (p.Ser363=) c.*1851A= (n.*1851A=) c.1395A= n.208A= | |
| 15 | g.48441797G>A | CA490021609 | FBN1 | c.6087C>T (p.Cys2029=) c.1086C>T (p.Cys362=) c.*1850C>T (n.*1850C>T) c.1394C>T n.207C>T | |
| 15 | g.48441797G>C | CA392338392 | FBN1 | c.6087C>G (p.Cys2029Trp) c.1086C>G (p.Cys362Trp) c.*1850C>G (n.*1850C>G) c.1394C>G n.207C>G | ClinVar dbSNP |
| 15 | g.48441797G= | CA2175508948 | FBN1 | c.6087C= (p.Cys2029=) c.1086C= (p.Cys362=) c.*1850C= (n.*1850C=) c.1394C= n.207C= | |
| 15 | g.48441797G>T | CA392338394 | FBN1 | c.6087C>A (p.Cys2029Ter) c.1086C>A (p.Cys362Ter) c.*1850C>A (n.*1850C>A) c.1394C>A n.207C>A | ClinVar dbSNP |
| 15 | g.48441798C>A | CA392338397 | FBN1 | c.6086G>T (p.Cys2029Phe) c.1085G>T (p.Cys362Phe) c.*1849G>T (n.*1849G>T) c.1393G>T n.206G>T | |
| 15 | g.48441798C= | CA2175508958 | FBN1 | c.6086G= (p.Cys2029=) c.1085G= (p.Cys362=) c.*1849G= (n.*1849G=) c.1393G= n.206G= | |
| 15 | g.48441798C>G | CA392338400 | FBN1 | c.6086G>C (p.Cys2029Ser) c.1085G>C (p.Cys362Ser) c.*1849G>C (n.*1849G>C) c.1393G>C n.206G>C | |
| 15 | g.48441798C>T | CA16042943 | FBN1 | c.6086G>A (p.Cys2029Tyr) c.1085G>A (p.Cys362Tyr) c.*1849G>A (n.*1849G>A) c.1393G>A n.206G>A | ClinVar dbSNP |
| 15 | g.48441799A= | CA2175508973 | FBN1 | c.6085T= (p.Cys2029=) c.1084T= (p.Cys362=) c.*1848T= (n.*1848T=) c.1392T= n.205T= | |
| 15 | g.48441799A>C | CA392338405 | FBN1 | c.6085T>G (p.Cys2029Gly) c.1084T>G (p.Cys362Gly) c.*1848T>G (n.*1848T>G) c.1392T>G n.205T>G | |
| 15 | g.48441799A>G | CA392338408 | FBN1 | c.6085T>C (p.Cys2029Arg) c.1084T>C (p.Cys362Arg) c.*1848T>C (n.*1848T>C) c.1392T>C n.205T>C | |
| 15 | g.48441799A>T | CA392338411 | FBN1 | c.6085T>A (p.Cys2029Ser) c.1084T>A (p.Cys362Ser) c.*1848T>A (n.*1848T>A) c.1392T>A n.205T>A | ClinVar dbSNP |
| 15 | g.48441800T>A | CA490021612 | FBN1 | c.6084A>T (p.Thr2028=) c.1083A>T (p.Thr361=) c.*1847A>T (n.*1847A>T) c.1391A>T n.204A>T | |
| 15 | g.48441800T>C | CA490021614 | FBN1 | c.6084A>G (p.Thr2028=) c.1083A>G (p.Thr361=) c.*1847A>G (n.*1847A>G) c.1391A>G n.204A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.48441800T>G | CA490021613 | FBN1 | c.6084A>C (p.Thr2028=) c.1083A>C (p.Thr361=) c.*1847A>C (n.*1847A>C) c.1391A>C n.204A>C | |
| 15 | g.48441800T= | CA2175508985 | FBN1 | c.6084A= (p.Thr2028=) c.1083A= (p.Thr361=) c.*1847A= (n.*1847A=) c.1391A= n.204A= | |
| 15 | g.48441801G>A | CA392338415 | FBN1 | c.6083C>T (p.Thr2028Ile) c.1082C>T (p.Thr361Ile) c.*1846C>T (n.*1846C>T) c.1390C>T n.203C>T | |
| 15 | g.48441801G>C | CA392338417 | FBN1 | c.6083C>G (p.Thr2028Arg) c.1082C>G (p.Thr361Arg) c.*1846C>G (n.*1846C>G) c.1390C>G n.203C>G | |
| 15 | g.48441801G>T | CA392338420 | FBN1 | c.6083C>A (p.Thr2028Lys) c.1082C>A (p.Thr361Lys) c.*1846C>A (n.*1846C>A) c.1390C>A n.203C>A | |
| 15 | g.48441802T>A | CA392338424 | FBN1 | c.6082A>T (p.Thr2028Ser) c.1081A>T (p.Thr361Ser) c.*1845A>T (n.*1845A>T) c.1389A>T n.202A>T | |
| 15 | g.48441802T>C | CA392338427 | FBN1 | c.6082A>G (p.Thr2028Ala) c.1081A>G (p.Thr361Ala) c.*1845A>G (n.*1845A>G) c.1389A>G n.202A>G | |
| 15 | g.48441802T>G | CA392338430 | FBN1 | c.6082A>C (p.Thr2028Pro) c.1081A>C (p.Thr361Pro) c.*1845A>C (n.*1845A>C) c.1389A>C n.202A>C | ClinVar |
| 15 | g.48441803G>A | CA490021621 | FBN1 | c.6081C>T (p.Gly2027=) c.1080C>T (p.Gly360=) c.*1844C>T (n.*1844C>T) c.1388C>T n.201C>T | |
| 15 | g.48441803G>C | CA490021620 | FBN1 | c.6081C>G (p.Gly2027=) c.1080C>G (p.Gly360=) c.*1844C>G (n.*1844C>G) c.1388C>G n.201C>G | |
| 15 | g.48441803G>T | CA490021619 | FBN1 | c.6081C>A (p.Gly2027=) c.1080C>A (p.Gly360=) c.*1844C>A (n.*1844C>A) c.1388C>A n.201C>A | |
| 15 | g.48441803_48441804delinsGC | CA2175508991 | FBN1 | c.6080_6081delinsGC (p.Gly2027=) c.1079_1080delinsGC (p.Gly360=) c.*1843_*1844delinsGC (n.*1843_*1844delinsGC) c.1387_1388delinsGC n.200_201delinsGC | |
| 15 | g.48441804C>A | CA10587807 | FBN1 | c.6080G>T (p.Gly2027Val) c.1079G>T (p.Gly360Val) c.*1843G>T (n.*1843G>T) c.1387G>T n.200G>T | ClinVar dbSNP |
| 15 | g.48441804C= | CA2175509003 | FBN1 | c.6080G= (p.Gly2027=) c.1079G= (p.Gly360=) c.*1843G= (n.*1843G=) c.1387G= n.200G= | |
| 15 | g.48441804C>G | CA392338436 | FBN1 | c.6080G>C (p.Gly2027Ala) c.1079G>C (p.Gly360Ala) c.*1843G>C (n.*1843G>C) c.1387G>C n.200G>C | |
| 15 | g.48441804C>T | CA392338433 | FBN1 | c.6080G>A (p.Gly2027Asp) c.1079G>A (p.Gly360Asp) c.*1843G>A (n.*1843G>A) c.1387G>A n.200G>A | |
| 15 | g.48441806del | CA658824941 | FBN1 | c.6080del (p.Gly2027AlafsTer?) c.1079del (p.Gly360AlafsTer?) c.*1843del (n.*1843del) c.1387del n.200del | ClinVar dbSNP |
| 15 | g.48441805_48441826del | CA2740096630 | FBN1 | c.6059_6080del (p.Glu2020AlafsTer?) c.1058_1079del (p.Glu353AlafsTer?) c.*1822_*1843del (n.*1822_*1843del) c.1366_1387del n.179_200del | ClinVar |
| 15 | g.48441805C>A | CA392338438 | FBN1 | c.6079G>T (p.Gly2027Cys) c.1078G>T (p.Gly360Cys) c.*1842G>T (n.*1842G>T) c.1386G>T n.199G>T | ClinVar dbSNP |
| 15 | g.48441805C= | CA2175509019 | FBN1 | c.6079G= (p.Gly2027=) c.1078G= (p.Gly360=) c.*1842G= (n.*1842G=) c.1386G= n.199G= | |
| 15 | g.48441805C>G | CA392338440 | FBN1 | c.6079G>C (p.Gly2027Arg) c.1078G>C (p.Gly360Arg) c.*1842G>C (n.*1842G>C) c.1386G>C n.199G>C | ClinVar dbSNP |
| 15 | g.48441805C>T | CA392338442 | FBN1 | c.6079G>A (p.Gly2027Ser) c.1078G>A (p.Gly360Ser) c.*1842G>A (n.*1842G>A) c.1386G>A n.199G>A | |
| 15 | g.48441806C>A | CA490021623 | FBN1 | c.6078G>T (p.Leu2026=) c.1077G>T (p.Leu359=) c.*1841G>T (n.*1841G>T) c.1385G>T n.198G>T | |
| 15 | g.48441806C>G | CA490021625 | FBN1 | c.6078G>C (p.Leu2026=) c.1077G>C (p.Leu359=) c.*1841G>C (n.*1841G>C) c.1385G>C n.198G>C | |
| 15 | g.48441806C>T | CA490021624 | FBN1 | c.6078G>A (p.Leu2026=) c.1077G>A (p.Leu359=) c.*1841G>A (n.*1841G>A) c.1385G>A n.198G>A | |
| 15 | g.48441807A>C | CA392338444 | FBN1 | c.6077T>G (p.Leu2026Arg) c.1076T>G (p.Leu359Arg) c.*1840T>G (n.*1840T>G) c.1384T>G n.197T>G | |
| 15 | g.48441807A>G | CA392338445 | FBN1 | c.6077T>C (p.Leu2026Pro) c.1076T>C (p.Leu359Pro) c.*1840T>C (n.*1840T>C) c.1384T>C n.197T>C | |
| 15 | g.48441807A>T | CA392338447 | FBN1 | c.6077T>A (p.Leu2026Gln) c.1076T>A (p.Leu359Gln) c.*1840T>A (n.*1840T>A) c.1384T>A n.197T>A | |
| 15 | g.48441808G>A | CA490021626 | FBN1 | c.6076C>T (p.Leu2026=) c.1075C>T (p.Leu359=) c.*1839C>T (n.*1839C>T) c.1383C>T n.196C>T | |
| 15 | g.48441808G>C | CA392338449 | FBN1 | c.6076C>G (p.Leu2026Val) c.1075C>G (p.Leu359Val) c.*1839C>G (n.*1839C>G) c.1383C>G n.196C>G | |
| 15 | g.48441808G>T | CA392338450 | FBN1 | c.6076C>A (p.Leu2026Met) c.1075C>A (p.Leu359Met) c.*1839C>A (n.*1839C>A) c.1383C>A n.196C>A | |
| 15 | g.48441809G>A | CA490021628 | FBN1 | c.6075C>T (p.Ala2025=) c.1074C>T (p.Ala358=) c.*1838C>T (n.*1838C>T) c.1382C>T n.195C>T | |
| 15 | g.48441809G>C | CA490021630 | FBN1 | c.6075C>G (p.Ala2025=) c.1074C>G (p.Ala358=) c.*1838C>G (n.*1838C>G) c.1382C>G n.195C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48441809G= | CA2175509036 | FBN1 | c.6075C= (p.Ala2025=) c.1074C= (p.Ala358=) c.*1838C= (n.*1838C=) c.1382C= n.195C= | |
| 15 | g.48441809G>T | CA490021632 | FBN1 | c.6075C>A (p.Ala2025=) c.1074C>A (p.Ala358=) c.*1838C>A (n.*1838C>A) c.1382C>A n.195C>A | |
| 15 | g.48441810G>A | CA392338453 | FBN1 | c.6074C>T (p.Ala2025Val) c.1073C>T (p.Ala358Val) c.*1837C>T (n.*1837C>T) c.1381C>T n.194C>T | gnomAD v4 |
| 15 | g.48441810G>C | CA392338454 | FBN1 | c.6074C>G (p.Ala2025Gly) c.1073C>G (p.Ala358Gly) c.*1837C>G (n.*1837C>G) c.1381C>G n.194C>G | |
| 15 | g.48441810G>T | CA392338456 | FBN1 | c.6074C>A (p.Ala2025Asp) c.1073C>A (p.Ala358Asp) c.*1837C>A (n.*1837C>A) c.1381C>A n.194C>A | |
| 15 | g.48441811C>A | CA016230 | FBN1 | c.6073G>T (p.Ala2025Ser) c.1072G>T (p.Ala358Ser) c.*1836G>T (n.*1836G>T) c.1380G>T n.193G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441811C= | CA2175509041 | FBN1 | c.6073G= (p.Ala2025=) c.1072G= (p.Ala358=) c.*1836G= (n.*1836G=) c.1380G= n.193G= | |
| 15 | g.48441811C>G | CA392338459 | FBN1 | c.6073G>C (p.Ala2025Pro) c.1072G>C (p.Ala358Pro) c.*1836G>C (n.*1836G>C) c.1380G>C n.193G>C | |
| 15 | g.48441811C>T | CA392338460 | FBN1 | c.6073G>A (p.Ala2025Thr) c.1072G>A (p.Ala358Thr) c.*1836G>A (n.*1836G>A) c.1380G>A n.193G>A | ClinVar |
| 15 | g.48441812A>C | CA392338462 | FBN1 | c.6072T>G (p.Cys2024Trp) c.1071T>G (p.Cys357Trp) c.*1835T>G (n.*1835T>G) c.1379T>G n.192T>G | |
| 15 | g.48441812A>G | CA490021633 | FBN1 | c.6072T>C (p.Cys2024=) c.1071T>C (p.Cys357=) c.*1835T>C (n.*1835T>C) c.1379T>C n.192T>C | |
| 15 | g.48441812A>T | CA392338464 | FBN1 | c.6072T>A (p.Cys2024Ter) c.1071T>A (p.Cys357Ter) c.*1835T>A (n.*1835T>A) c.1379T>A n.192T>A | |
| 15 | g.48441813C>A | CA392338466 | FBN1 | c.6071G>T (p.Cys2024Phe) c.1070G>T (p.Cys357Phe) c.*1834G>T (n.*1834G>T) c.1378G>T n.191G>T | ClinVar dbSNP |
| 15 | g.48441813C= | CA2175509058 | FBN1 | c.6071G= (p.Cys2024=) c.1070G= (p.Cys357=) c.*1834G= (n.*1834G=) c.1378G= n.191G= | |
| 15 | g.48441813C>G | CA392338468 | FBN1 | c.6071G>C (p.Cys2024Ser) c.1070G>C (p.Cys357Ser) c.*1834G>C (n.*1834G>C) c.1378G>C n.191G>C | |
| 15 | g.48441813C>T | CA392338469 | FBN1 | c.6071G>A (p.Cys2024Tyr) c.1070G>A (p.Cys357Tyr) c.*1834G>A (n.*1834G>A) c.1378G>A n.191G>A | ClinVar dbSNP |
| 15 | g.48441814A>C | CA392338471 | FBN1 | c.6070T>G (p.Cys2024Gly) c.1069T>G (p.Cys357Gly) c.*1833T>G (n.*1833T>G) c.1377T>G n.190T>G | |
| 15 | g.48441814A>G | CA392338473 | FBN1 | c.6070T>C (p.Cys2024Arg) c.1069T>C (p.Cys357Arg) c.*1833T>C (n.*1833T>C) c.1377T>C n.190T>C | |
| 15 | g.48441814A>T | CA392338475 | FBN1 | c.6070T>A (p.Cys2024Ser) c.1069T>A (p.Cys357Ser) c.*1833T>A (n.*1833T>A) c.1377T>A n.190T>A | |
| 15 | g.48441816dup | CA915945981 | FBN1 | c.6070dup (p.Cys2024LeufsTer8) c.1069dup (p.Cys357LeufsTer8) c.*1833dup (n.*1833dup) c.1377dup n.190dup | ClinVar dbSNP |
| 15 | g.48441815A= | CA2175509071 | FBN1 | c.6069T= (p.Ile2023=) c.1068T= (p.Ile356=) c.*1832T= (n.*1832T=) c.1376T= n.189T= | |
| 15 | g.48441815A>C | CA392338477 | FBN1 | c.6069T>G (p.Ile2023Met) c.1068T>G (p.Ile356Met) c.*1832T>G (n.*1832T>G) c.1376T>G n.189T>G | dbSNP gnomAD v4 |
| 15 | g.48441815A>G | CA056197 | FBN1 | c.6069T>C (p.Ile2023=) c.1068T>C (p.Ile356=) c.*1832T>C (n.*1832T>C) c.1376T>C n.189T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48441815A>T | CA490021637 | FBN1 | c.6069T>A (p.Ile2023=) c.1068T>A (p.Ile356=) c.*1832T>A (n.*1832T>A) c.1376T>A n.189T>A | ClinVar dbSNP |
| 15 | g.48441816A= | CA2175509077 | FBN1 | c.6068T= (p.Ile2023=) c.1067T= (p.Ile356=) c.*1831T= (n.*1831T=) c.1375T= n.188T= | |
| 15 | g.48441816A>C | CA392338480 | FBN1 | c.6068T>G (p.Ile2023Ser) c.1067T>G (p.Ile356Ser) c.*1831T>G (n.*1831T>G) c.1375T>G n.188T>G | |
| 15 | g.48441816A>G | CA10587801 | FBN1 | c.6068T>C (p.Ile2023Thr) c.1067T>C (p.Ile356Thr) c.*1831T>C (n.*1831T>C) c.1375T>C n.188T>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.48441816A>T | CA392338482 | FBN1 | c.6068T>A (p.Ile2023Asn) c.1067T>A (p.Ile356Asn) c.*1831T>A (n.*1831T>A) c.1375T>A n.188T>A | |
| 15 | g.48441816_48441817insAGGGA | CA2573150945 | FBN1 | c.6068_6069insCCCTT (p.Cys2024ProfsTer?) c.1067_1068insCCCTT (p.Cys357ProfsTer?) c.*1831_*1832insCCCTT (n.*1831_*1832insCCCTT) c.1375_1376insCCCTT n.188_189insCCCTT | ClinVar dbSNP |
| 15 | g.48441816_48441817delinsAT | CA2175509080 | FBN1 | c.6067_6068delinsAT (p.Ile2023=) c.1066_1067delinsAT (p.Ile356=) c.*1830_*1831delinsAT (n.*1830_*1831delinsAT) c.1374_1375delinsAT n.187_188delinsAT | |
| 15 | g.48441817T>A | CA392338484 | FBN1 | c.6067A>T (p.Ile2023Phe) c.1066A>T (p.Ile356Phe) c.*1830A>T (n.*1830A>T) c.1374A>T n.187A>T | |
| 15 | g.48441817T>C | CA392338489 | FBN1 | c.6067A>G (p.Ile2023Val) c.1066A>G (p.Ile356Val) c.*1830A>G (n.*1830A>G) c.1374A>G n.187A>G | |
| 15 | g.48441817T>G | CA392338486 | FBN1 | c.6067A>C (p.Ile2023Leu) c.1066A>C (p.Ile356Leu) c.*1830A>C (n.*1830A>C) c.1374A>C n.187A>C | |
| 15 | g.48441819del | CA915945982 | FBN1 | c.6067del (p.Ile2023PhefsTer?) c.1066del (p.Ile356PhefsTer?) c.*1830del (n.*1830del) c.1374del n.187del | ClinVar dbSNP |
| 15 | g.48441818T>A | CA392338491 | FBN1 | c.6066A>T (p.Glu2022Asp) c.1065A>T (p.Glu355Asp) c.*1829A>T (n.*1829A>T) c.1373A>T n.186A>T | |
| 15 | g.48441818T>C | CA490021638 | FBN1 | c.6066A>G (p.Glu2022=) c.1065A>G (p.Glu355=) c.*1829A>G (n.*1829A>G) c.1373A>G n.186A>G | |
| 15 | g.48441818T>G | CA392338494 | FBN1 | c.6066A>C (p.Glu2022Asp) c.1065A>C (p.Glu355Asp) c.*1829A>C (n.*1829A>C) c.1373A>C n.186A>C | |
| 15 | g.48441819T>A | CA392338497 | FBN1 | c.6065A>T (p.Glu2022Val) c.1064A>T (p.Glu355Val) c.*1828A>T (n.*1828A>T) c.1372A>T n.185A>T | |
| 15 | g.48441819T>C | CA392338498 | FBN1 | c.6065A>G (p.Glu2022Gly) c.1064A>G (p.Glu355Gly) c.*1828A>G (n.*1828A>G) c.1372A>G n.185A>G | |
| 15 | g.48441819T>G | CA392338499 | FBN1 | c.6065A>C (p.Glu2022Ala) c.1064A>C (p.Glu355Ala) c.*1828A>C (n.*1828A>C) c.1372A>C n.185A>C | |
| 15 | g.48441820C>A | CA392338501 | FBN1 | c.6064G>T (p.Glu2022Ter) c.1063G>T (p.Glu355Ter) c.*1827G>T (n.*1827G>T) c.1371G>T n.184G>T | ClinVar dbSNP |
| 15 | g.48441820C= | CA2175509096 | FBN1 | c.6064G= (p.Glu2022=) c.1063G= (p.Glu355=) c.*1827G= (n.*1827G=) c.1371G= n.184G= | |
| 15 | g.48441820C>G | CA392338503 | FBN1 | c.6064G>C (p.Glu2022Gln) c.1063G>C (p.Glu355Gln) c.*1827G>C (n.*1827G>C) c.1371G>C n.184G>C | |
| 15 | g.48441820C>T | CA392338506 | FBN1 | c.6064G>A (p.Glu2022Lys) c.1063G>A (p.Glu355Lys) c.*1827G>A (n.*1827G>A) c.1371G>A n.184G>A | gnomAD v4 |
| 15 | g.48441821T>A | CA490021642 | FBN1 | c.6063A>T (p.Pro2021=) c.1062A>T (p.Pro354=) c.*1826A>T (n.*1826A>T) c.1370A>T n.183A>T | |
| 15 | g.48441821T>C | CA490021644 | FBN1 | c.6063A>G (p.Pro2021=) c.1062A>G (p.Pro354=) c.*1826A>G (n.*1826A>G) c.1370A>G n.183A>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48441821T>G | CA490021643 | FBN1 | c.6063A>C (p.Pro2021=) c.1062A>C (p.Pro354=) c.*1826A>C (n.*1826A>C) c.1370A>C n.183A>C | |
| 15 | g.48441821T= | CA2175509101 | FBN1 | c.6063A= (p.Pro2021=) c.1062A= (p.Pro354=) c.*1826A= (n.*1826A=) c.1370A= n.183A= | |
| 15 | g.48441822G>A | CA392338513 | FBN1 | c.6062C>T (p.Pro2021Leu) c.1061C>T (p.Pro354Leu) c.*1825C>T (n.*1825C>T) c.1369C>T n.182C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48441822G>C | CA392338510 | FBN1 | c.6062C>G (p.Pro2021Arg) c.1061C>G (p.Pro354Arg) c.*1825C>G (n.*1825C>G) c.1369C>G n.182C>G | |
| 15 | g.48441822G= | CA2175509111 | FBN1 | c.6062C= (p.Pro2021=) c.1061C= (p.Pro354=) c.*1825C= (n.*1825C=) c.1369C= n.182C= | |
| 15 | g.48441822G>T | CA392338512 | FBN1 | c.6062C>A (p.Pro2021Gln) c.1061C>A (p.Pro354Gln) c.*1825C>A (n.*1825C>A) c.1369C>A n.182C>A | |
| 15 | g.48441823G>A | CA392338514 | FBN1 | c.6061C>T (p.Pro2021Ser) c.1060C>T (p.Pro354Ser) c.*1824C>T (n.*1824C>T) c.1368C>T n.181C>T | gnomAD v4 |
| 15 | g.48441823G>C | CA392338517 | FBN1 | c.6061C>G (p.Pro2021Ala) c.1060C>G (p.Pro354Ala) c.*1824C>G (n.*1824C>G) c.1368C>G n.181C>G | |
| 15 | g.48441823G>T | CA392338521 | FBN1 | c.6061C>A (p.Pro2021Thr) c.1060C>A (p.Pro354Thr) c.*1824C>A (n.*1824C>A) c.1368C>A n.181C>A | |
| 15 | g.48441824C>A | CA392338525 | FBN1 | c.6060G>T (p.Glu2020Asp) c.1059G>T (p.Glu353Asp) c.*1823G>T (n.*1823G>T) c.1367G>T n.180G>T | |
| 15 | g.48441824C= | CA2175509115 | FBN1 | c.6060G= (p.Glu2020=) c.1059G= (p.Glu353=) c.*1823G= (n.*1823G=) c.1367G= n.180G= | |
| 15 | g.48441824C>G | CA392338526 | FBN1 | c.6060G>C (p.Glu2020Asp) c.1059G>C (p.Glu353Asp) c.*1823G>C (n.*1823G>C) c.1367G>C n.180G>C | |
| 15 | g.48441824C>T | CA490021646 | FBN1 | c.6060G>A (p.Glu2020=) c.1059G>A (p.Glu353=) c.*1823G>A (n.*1823G>A) c.1367G>A n.180G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48441825T>A | CA392338534 | FBN1 | c.6059A>T (p.Glu2020Val) c.1058A>T (p.Glu353Val) c.*1822A>T (n.*1822A>T) c.1366A>T n.179A>T | |
| 15 | g.48441825T>C | CA392338529 | FBN1 | c.6059A>G (p.Glu2020Gly) c.1058A>G (p.Glu353Gly) c.*1822A>G (n.*1822A>G) c.1366A>G n.179A>G | |
| 15 | g.48441825T>G | CA392338530 | FBN1 | c.6059A>C (p.Glu2020Ala) c.1058A>C (p.Glu353Ala) c.*1822A>C (n.*1822A>C) c.1366A>C n.179A>C | |
| 15 | g.48441826C>A | CA392338540 | FBN1 | c.6058G>T (p.Glu2020Ter) c.1057G>T (p.Glu353Ter) c.*1821G>T (n.*1821G>T) c.1365G>T n.178G>T | |
| 15 | g.48441826C>G | CA392338542 | FBN1 | c.6058G>C (p.Glu2020Gln) c.1057G>C (p.Glu353Gln) c.*1821G>C (n.*1821G>C) c.1365G>C n.178G>C | gnomAD v4 |
| 15 | g.48441826C>T | CA392338544 | FBN1 | c.6058G>A (p.Glu2020Lys) c.1057G>A (p.Glu353Lys) c.*1821G>A (n.*1821G>A) c.1365G>A n.178G>A | |
| 15 | g.48441827T>A | CA392338550 | FBN1 | c.6057A>T (p.Glu2019Asp) c.1056A>T (p.Glu352Asp) c.*1820A>T (n.*1820A>T) c.1364A>T n.177A>T | |
| 15 | g.48441827T>C | CA490021647 | FBN1 | c.6057A>G (p.Glu2019=) c.1056A>G (p.Glu352=) c.*1820A>G (n.*1820A>G) c.1364A>G n.177A>G | |
| 15 | g.48441827T>G | CA392338552 | FBN1 | c.6057A>C (p.Glu2019Asp) c.1056A>C (p.Glu352Asp) c.*1820A>C (n.*1820A>C) c.1364A>C n.177A>C | |
| 15 | g.48441827_48441836delinsTTCGACACAC | CA2175509121 | FBN1 | c.6048_6057delinsGTGTGTCGAA (p.Glu2016=) c.1047_1056delinsGTGTGTCGAA (p.Glu349=) c.*1811_*1820delinsGTGTGTCGAA (n.*1811_*1820delinsGTGTGTCGAA) c.1355_1364delinsGTGTGTCGAA n.168_177delinsGTGTGTCGAA |