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.48505035_48505036dup | CA2695220773 | FBN1 | c.1957_1958dup (p.Asp654LeufsTer?) n.631_632dup c.637-30378_637-30377dup (n.637-30378_637-30377dup) | ClinVar dbSNP |
| 15 | g.48505035_48505036del | CA10603350 | FBN1 | c.1957_1958del (p.Val653Ter) n.631_632del c.637-30378_637-30377del (n.637-30378_637-30377del) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48505029A= | CA2175527319 | FBN1 | c.1956T= (p.Cys652=) n.630T= c.637-30379T= (n.637-30379T=) | |
| 15 | g.48505029A>C | CA392338961 | FBN1 | c.1956T>G (p.Cys652Trp) n.630T>G c.637-30379T>G (n.637-30379T>G) | ClinVar dbSNP |
| 15 | g.48505029A>G | CA490025437 | FBN1 | c.1956T>C (p.Cys652=) n.630T>C c.637-30379T>C (n.637-30379T>C) | |
| 15 | g.48505029A>T | CA392338962 | FBN1 | c.1956T>A (p.Cys652Ter) n.630T>A c.637-30379T>A (n.637-30379T>A) | |
| 15 | g.48505030C>A | CA392338963 | FBN1 | c.1955G>T (p.Cys652Phe) n.629G>T c.637-30380G>T (n.637-30380G>T) | |
| 15 | g.48505030C= | CA2175527322 | FBN1 | c.1955G= (p.Cys652=) n.629G= c.637-30380G= (n.637-30380G=) | |
| 15 | g.48505030C>G | CA392338964 | FBN1 | c.1955G>C (p.Cys652Ser) n.629G>C c.637-30380G>C (n.637-30380G>C) | |
| 15 | g.48505030C>T | CA392338965 | FBN1 | c.1955G>A (p.Cys652Tyr) n.629G>A c.637-30380G>A (n.637-30380G>A) | ClinVar dbSNP |
| 15 | g.48505031A= | CA2175527326 | FBN1 | c.1954T= (p.Cys652=) n.628T= c.637-30381T= (n.637-30381T=) | |
| 15 | g.48505031A>C | CA392338968 | FBN1 | c.1954T>G (p.Cys652Gly) n.628T>G c.637-30381T>G (n.637-30381T>G) | |
| 15 | g.48505031A>G | CA392338967 | FBN1 | c.1954T>C (p.Cys652Arg) n.628T>C c.637-30381T>C (n.637-30381T>C) | ClinVar dbSNP |
| 15 | g.48505031A>T | CA392338966 | FBN1 | c.1954T>A (p.Cys652Ser) n.628T>A c.637-30381T>A (n.637-30381T>A) | |
| 15 | g.48505033_48505048del | CA2695220774 | FBN1 | c.1939_1954del (p.Leu647ValfsTer?) n.613_628del c.637-30396_637-30381del (n.637-30396_637-30381del) | |
| 15 | g.48505032C>A | CA490025451 | FBN1 | c.1953G>T (p.Val651=) n.627G>T c.637-30382G>T (n.637-30382G>T) | |
| 15 | g.48505032C>G | CA490025454 | FBN1 | c.1953G>C (p.Val651=) n.627G>C c.637-30382G>C (n.637-30382G>C) | |
| 15 | g.48505032C>T | CA490025456 | FBN1 | c.1953G>A (p.Val651=) n.627G>A c.637-30382G>A (n.637-30382G>A) | |
| 15 | g.48505033A= | CA2175527328 | FBN1 | c.1952T= (p.Val651=) n.626T= c.637-30383T= (n.637-30383T=) | |
| 15 | g.48505033A>C | CA392338969 | FBN1 | c.1952T>G (p.Val651Gly) n.626T>G c.637-30383T>G (n.637-30383T>G) | |
| 15 | g.48505033A>G | CA392338970 | FBN1 | c.1952T>C (p.Val651Ala) n.626T>C c.637-30383T>C (n.637-30383T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48505033A>T | CA392338971 | FBN1 | c.1952T>A (p.Val651Glu) n.626T>A c.637-30383T>A (n.637-30383T>A) | |
| 15 | g.48505034C>A | CA392338972 | FBN1 | c.1951G>T (p.Val651Leu) n.625G>T c.637-30384G>T (n.637-30384G>T) | |
| 15 | g.48505034C= | CA2175527331 | FBN1 | c.1951G= (p.Val651=) n.625G= c.637-30384G= (n.637-30384G=) | |
| 15 | g.48505034C>G | CA392338973 | FBN1 | c.1951G>C (p.Val651Leu) n.625G>C c.637-30384G>C (n.637-30384G>C) | gnomAD v4 |
| 15 | g.48505034C>T | CA392338974 | FBN1 | c.1951G>A (p.Val651Met) n.625G>A c.637-30384G>A (n.637-30384G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48505037_48505052dup | CA2573150784 | FBN1 | c.1936_1951dup (p.Val651GlyfsTer9) n.610_625dup c.637-30399_637-30384dup (n.637-30399_637-30384dup) | ClinVar dbSNP |
| 15 | g.48505035A>C | CA490025470 | FBN1 | c.1950T>G (p.Arg650=) n.624T>G c.637-30385T>G (n.637-30385T>G) | |
| 15 | g.48505035A>G | CA490025471 | FBN1 | c.1950T>C (p.Arg650=) n.624T>C c.637-30385T>C (n.637-30385T>C) | |
| 15 | g.48505035A>T | CA490025473 | FBN1 | c.1950T>A (p.Arg650=) n.624T>A c.637-30385T>A (n.637-30385T>A) | |
| 15 | g.48505036C>A | CA392338975 | FBN1 | c.1949G>T (p.Arg650Leu) n.623G>T c.637-30386G>T (n.637-30386G>T) | |
| 15 | g.48505036C= | CA2175527337 | FBN1 | c.1949G= (p.Arg650=) n.623G= c.637-30386G= (n.637-30386G=) | |
| 15 | g.48505036C>G | CA392338977 | FBN1 | c.1949G>C (p.Arg650Pro) n.623G>C c.637-30386G>C (n.637-30386G>C) | |
| 15 | g.48505036C>T | CA392338976 | FBN1 | c.1949G>A (p.Arg650His) n.623G>A c.637-30386G>A (n.637-30386G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48505036_48505037delinsCG | CA2175527341 | FBN1 | c.1948_1949delinsCG (p.Arg650=) n.622_623delinsCG c.637-30387_637-30386delinsCG (n.637-30387_637-30386delinsCG) | |
| 15 | g.48505037G>A | CA012686 | FBN1 | c.1948C>T (p.Arg650Cys) n.622C>T c.637-30387C>T (n.637-30387C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48505037G>C | CA392338978 | FBN1 | c.1948C>G (p.Arg650Gly) n.622C>G c.637-30387C>G (n.637-30387C>G) | |
| 15 | g.48505037G= | CA2175527349 | FBN1 | c.1948C= (p.Arg650=) n.622C= c.637-30387C= (n.637-30387C=) | |
| 15 | g.48505037G>T | CA392338979 | FBN1 | c.1948C>A (p.Arg650Ser) n.622C>A c.637-30387C>A (n.637-30387C>A) | |
| 15 | g.48505038dup | CA913187682 | FBN1 | c.1948dup (p.Arg650ProfsTer5) n.622dup c.637-30387dup (n.637-30387dup) | ClinVar dbSNP |
| 15 | g.48505038del | CA891844029 | FBN1 | c.1948del (p.Arg650ValfsTer?) n.622del c.637-30387del (n.637-30387del) | ClinVar dbSNP |
| 15 | g.48505038G>A | CA490025492 | FBN1 | c.1947C>T (p.Gly649=) n.621C>T c.637-30388C>T (n.637-30388C>T) | ClinVar dbSNP |
| 15 | g.48505038G>C | CA490025495 | FBN1 | c.1947C>G (p.Gly649=) n.621C>G c.637-30388C>G (n.637-30388C>G) | |
| 15 | g.48505038G>T | CA490025496 | FBN1 | c.1947C>A (p.Gly649=) n.621C>A c.637-30388C>A (n.637-30388C>A) | dbSNP |
| 15 | g.48505039C>A | CA392338980 | FBN1 | c.1946G>T (p.Gly649Val) n.620G>T c.637-30389G>T (n.637-30389G>T) | |
| 15 | g.48505039C= | CA2175527357 | FBN1 | c.1946G= (p.Gly649=) n.620G= c.637-30389G= (n.637-30389G=) | |
| 15 | g.48505039C>G | CA392338981 | FBN1 | c.1946G>C (p.Gly649Ala) n.620G>C c.637-30389G>C (n.637-30389G>C) | |
| 15 | g.48505039C>T | CA392338982 | FBN1 | c.1946G>A (p.Gly649Asp) n.620G>A c.637-30389G>A (n.637-30389G>A) | dbSNP gnomAD v4 |
| 15 | g.48505040C>A | CA392338983 | FBN1 | c.1945G>T (p.Gly649Cys) n.619G>T c.637-30390G>T (n.637-30390G>T) | |
| 15 | g.48505040C>G | CA392338984 | FBN1 | c.1945G>C (p.Gly649Arg) n.619G>C c.637-30390G>C (n.637-30390G>C) | |
| 15 | g.48505040C>T | CA392338985 | FBN1 | c.1945G>A (p.Gly649Ser) n.619G>A c.637-30390G>A (n.637-30390G>A) | |
| 15 | g.48505041A>C | CA392338986 | FBN1 | c.1944T>G (p.Asp648Glu) n.618T>G c.637-30391T>G (n.637-30391T>G) | |
| 15 | g.48505041A>G | CA490025510 | FBN1 | c.1944T>C (p.Asp648=) n.618T>C c.637-30391T>C (n.637-30391T>C) | gnomAD v4 |
| 15 | g.48505041A>T | CA392338987 | FBN1 | c.1944T>A (p.Asp648Glu) n.618T>A c.637-30391T>A (n.637-30391T>A) | ClinVar dbSNP |
| 15 | g.48505042T>A | CA392338989 | FBN1 | c.1943A>T (p.Asp648Val) n.617A>T c.637-30392A>T (n.637-30392A>T) | |
| 15 | g.48505042T>C | CA392338990 | FBN1 | c.1943A>G (p.Asp648Gly) n.617A>G c.637-30392A>G (n.637-30392A>G) | gnomAD v4 |
| 15 | g.48505042T>G | CA392338988 | FBN1 | c.1943A>C (p.Asp648Ala) n.617A>C c.637-30392A>C (n.637-30392A>C) | |
| 15 | g.48505043C>A | CA392338993 | FBN1 | c.1942G>T (p.Asp648Tyr) n.616G>T c.637-30393G>T (n.637-30393G>T) | |
| 15 | g.48505043C>G | CA392338991 | FBN1 | c.1942G>C (p.Asp648His) n.616G>C c.637-30393G>C (n.637-30393G>C) | |
| 15 | g.48505043C>T | CA392338992 | FBN1 | c.1942G>A (p.Asp648Asn) n.616G>A c.637-30393G>A (n.637-30393G>A) | gnomAD v4 |
| 15 | g.48505044del | CA2740096673 | FBN1 | c.1942del (p.Asp648MetfsTer?) n.616del c.637-30393del (n.637-30393del) | ClinVar |
| 15 | g.48505044C>A | CA490025527 | FBN1 | c.1941G>T (p.Leu647=) n.615G>T c.637-30394G>T (n.637-30394G>T) | |
| 15 | g.48505044C= | CA2175527361 | FBN1 | c.1941G= (p.Leu647=) n.615G= c.637-30394G= (n.637-30394G=) | |
| 15 | g.48505044C>G | CA046328 | FBN1 | c.1941G>C (p.Leu647=) n.615G>C c.637-30394G>C (n.637-30394G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48505044C>T | CA490025524 | FBN1 | c.1941G>A (p.Leu647=) n.615G>A c.637-30394G>A (n.637-30394G>A) | |
| 15 | g.48505045A= | CA2175527363 | FBN1 | c.1940T= (p.Leu647=) n.614T= c.637-30395T= (n.637-30395T=) | |
| 15 | g.48505045A>C | CA392338994 | FBN1 | c.1940T>G (p.Leu647Arg) n.614T>G c.637-30395T>G (n.637-30395T>G) | |
| 15 | g.48505045A>G | CA392338995 | FBN1 | c.1940T>C (p.Leu647Pro) n.614T>C c.637-30395T>C (n.637-30395T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48505045A>T | CA392338996 | FBN1 | c.1940T>A (p.Leu647Gln) n.614T>A c.637-30395T>A (n.637-30395T>A) | |
| 15 | g.48505046G>A | CA490025534 | FBN1 | c.1939C>T (p.Leu647=) n.613C>T c.637-30396C>T (n.637-30396C>T) | |
| 15 | g.48505046G>C | CA392338998 | FBN1 | c.1939C>G (p.Leu647Val) n.613C>G c.637-30396C>G (n.637-30396C>G) | ClinVar gnomAD v4 |
| 15 | g.48505046G>T | CA392338997 | FBN1 | c.1939C>A (p.Leu647Met) n.613C>A c.637-30396C>A (n.637-30396C>A) | |
| 15 | g.48505047A= | CA2175527367 | FBN1 | c.1938T= (p.Gly646=) n.612T= c.637-30397T= (n.637-30397T=) | |
| 15 | g.48505047A>C | CA490025549 | FBN1 | c.1938T>G (p.Gly646=) n.612T>G c.637-30397T>G (n.637-30397T>G) | dbSNP |
| 15 | g.48505047A>G | CA490025546 | FBN1 | c.1938T>C (p.Gly646=) n.612T>C c.637-30397T>C (n.637-30397T>C) | |
| 15 | g.48505047A>T | CA490025544 | FBN1 | c.1938T>A (p.Gly646=) n.612T>A c.637-30397T>A (n.637-30397T>A) | |
| 15 | g.48505048C>A | CA392338999 | FBN1 | c.1937G>T (p.Gly646Val) n.611G>T c.637-30398G>T (n.637-30398G>T) | |
| 15 | g.48505048C= | CA2175527373 | FBN1 | c.1937G= (p.Gly646=) n.611G= c.637-30398G= (n.637-30398G=) | |
| 15 | g.48505048C>G | CA392339000 | FBN1 | c.1937G>C (p.Gly646Ala) n.611G>C c.637-30398G>C (n.637-30398G>C) | |
| 15 | g.48505048C>T | CA392339001 | FBN1 | c.1937G>A (p.Gly646Asp) n.611G>A c.637-30398G>A (n.637-30398G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48505049C>A | CA392339002 | FBN1 | c.1936G>T (p.Gly646Cys) n.610G>T c.637-30399G>T (n.637-30399G>T) | |
| 15 | g.48505049C>G | CA392339003 | FBN1 | c.1936G>C (p.Gly646Arg) n.610G>C c.637-30399G>C (n.637-30399G>C) | |
| 15 | g.48505049C>T | CA392339004 | FBN1 | c.1936G>A (p.Gly646Ser) n.610G>A c.637-30399G>A (n.637-30399G>A) | |
| 15 | g.48505050C>A | CA490025560 | FBN1 | c.1935G>T (p.Val645=) n.609G>T c.637-30400G>T (n.637-30400G>T) | |
| 15 | g.48505050C>G | CA490025565 | FBN1 | c.1935G>C (p.Val645=) n.609G>C c.637-30400G>C (n.637-30400G>C) | gnomAD v4 |
| 15 | g.48505050C>T | CA490025562 | FBN1 | c.1935G>A (p.Val645=) n.609G>A c.637-30400G>A (n.637-30400G>A) | |
| 15 | g.48505051A= | CA2175527375 | FBN1 | c.1934T= (p.Val645=) n.608T= c.637-30401T= (n.637-30401T=) | |
| 15 | g.48505051A>C | CA046315 | FBN1 | c.1934T>G (p.Val645Gly) n.608T>G c.637-30401T>G (n.637-30401T>G) | dbSNP ExAC gnomAD v2 |
| 15 | g.48505051A>G | CA392339006 | FBN1 | c.1934T>C (p.Val645Ala) n.608T>C c.637-30401T>C (n.637-30401T>C) | |
| 15 | g.48505051A>T | CA392339005 | FBN1 | c.1934T>A (p.Val645Glu) n.608T>A c.637-30401T>A (n.637-30401T>A) | |
| 15 | g.48505052C>A | CA392339007 | FBN1 | c.1933G>T (p.Val645Leu) n.607G>T c.637-30402G>T (n.637-30402G>T) | |
| 15 | g.48505052C>G | CA392339008 | FBN1 | c.1933G>C (p.Val645Leu) n.607G>C c.637-30402G>C (n.637-30402G>C) | |
| 15 | g.48505052C>T | CA392339009 | FBN1 | c.1933G>A (p.Val645Met) n.607G>A c.637-30402G>A (n.637-30402G>A) | |
| 15 | g.48505053A>C | CA490025578 | FBN1 | c.1932T>G (p.Ala644=) n.606T>G c.637-30403T>G (n.637-30403T>G) | |
| 15 | g.48505053A>G | CA490025581 | FBN1 | c.1932T>C (p.Ala644=) n.606T>C c.637-30403T>C (n.637-30403T>C) | |
| 15 | g.48505053A>T | CA490025583 | FBN1 | c.1932T>A (p.Ala644=) n.606T>A c.637-30403T>A (n.637-30403T>A) | |
| 15 | g.48505054G>A | CA392339010 | FBN1 | c.1931C>T (p.Ala644Val) n.605C>T c.637-30404C>T (n.637-30404C>T) | dbSNP |
| 15 | g.48505054G>C | CA392339011 | FBN1 | c.1931C>G (p.Ala644Gly) n.605C>G c.637-30404C>G (n.637-30404C>G) | |
| 15 | g.48505054G= | CA2175527378 | FBN1 | c.1931C= (p.Ala644=) n.605C= c.637-30404C= (n.637-30404C=) | |
| 15 | g.48505054G>T | CA392339012 | FBN1 | c.1931C>A (p.Ala644Asp) n.605C>A c.637-30404C>A (n.637-30404C>A) | |
| 15 | g.48505055C>A | CA392339013 | FBN1 | c.1930G>T (p.Ala644Ser) n.604G>T c.637-30405G>T (n.637-30405G>T) | |
| 15 | g.48505055C= | CA2175527381 | FBN1 | c.1930G= (p.Ala644=) n.604G= c.637-30405G= (n.637-30405G=) | |
| 15 | g.48505055C>G | CA392339014 | FBN1 | c.1930G>C (p.Ala644Pro) n.604G>C c.637-30405G>C (n.637-30405G>C) | ClinVar dbSNP |
| 15 | g.48505055C>T | CA392339015 | FBN1 | c.1930G>A (p.Ala644Thr) n.604G>A c.637-30405G>A (n.637-30405G>A) | |
| 15 | g.48505055_48505056delinsAA | CA658798348 | FBN1 | c.1929_1930delinsTT (p.Ala644Ser) n.603_604delinsTT c.637-30406_637-30405delinsTT (n.637-30406_637-30405delinsTT) | ClinVar dbSNP |
| 15 | g.48505055_48505056delinsCC | CA2175527384 | FBN1 | c.1929_1930delinsGG (p.Leu643=) n.603_604delinsGG c.637-30406_637-30405delinsGG (n.637-30406_637-30405delinsGG) | |
| 15 | g.48505056C>A | CA490025593 | FBN1 | c.1929G>T (p.Leu643=) n.603G>T c.637-30406G>T (n.637-30406G>T) | |
| 15 | g.48505056C>G | CA490025595 | FBN1 | c.1929G>C (p.Leu643=) n.603G>C c.637-30406G>C (n.637-30406G>C) | |
| 15 | g.48505056C>T | CA490025597 | FBN1 | c.1929G>A (p.Leu643=) n.603G>A c.637-30406G>A (n.637-30406G>A) | |
| 15 | g.48505057A= | CA2175527385 | FBN1 | c.1928T= (p.Leu643=) n.602T= c.637-30407T= (n.637-30407T=) | |
| 15 | g.48505057A>C | CA392339016 | FBN1 | c.1928T>G (p.Leu643Arg) n.602T>G c.637-30407T>G (n.637-30407T>G) | ClinVar dbSNP |
| 15 | g.48505057A>G | CA392339017 | FBN1 | c.1928T>C (p.Leu643Pro) n.602T>C c.637-30407T>C (n.637-30407T>C) | |
| 15 | g.48505057A>T | CA392339018 | FBN1 | c.1928T>A (p.Leu643Gln) n.602T>A c.637-30407T>A (n.637-30407T>A) | |
| 15 | g.48505058G>A | CA490025605 | FBN1 | c.1927C>T (p.Leu643=) n.601C>T c.637-30408C>T (n.637-30408C>T) | |
| 15 | g.48505058G>C | CA392339020 | FBN1 | c.1927C>G (p.Leu643Val) n.601C>G c.637-30408C>G (n.637-30408C>G) | |
| 15 | g.48505058G>T | CA392339019 | FBN1 | c.1927C>A (p.Leu643Met) n.601C>A c.637-30408C>A (n.637-30408C>A) | |
| 15 | g.48505059T>A | CA490025612 | FBN1 | c.1926A>T (p.Gly642=) n.600A>T c.637-30409A>T (n.637-30409A>T) | |
| 15 | g.48505059T>C | CA490025615 | FBN1 | c.1926A>G (p.Gly642=) n.600A>G c.637-30409A>G (n.637-30409A>G) | gnomAD v4 |
| 15 | g.48505059T>G | CA490025617 | FBN1 | c.1926A>C (p.Gly642=) n.600A>C c.637-30409A>C (n.637-30409A>C) | |
| 15 | g.48505060C>A | CA392339021 | FBN1 | c.1925G>T (p.Gly642Val) n.599G>T c.637-30410G>T (n.637-30410G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48505060C= | CA2175527386 | FBN1 | c.1925G= (p.Gly642=) n.599G= c.637-30410G= (n.637-30410G=) | |
| 15 | g.48505060C>G | CA392339022 | FBN1 | c.1925G>C (p.Gly642Ala) n.599G>C c.637-30410G>C (n.637-30410G>C) | |
| 15 | g.48505060C>T | CA392339023 | FBN1 | c.1925G>A (p.Gly642Glu) n.599G>A c.637-30410G>A (n.637-30410G>A) | |
| 15 | g.48505061C>A | CA392339024 | FBN1 | c.1924G>T (p.Gly642Ter) n.598G>T c.637-30411G>T (n.637-30411G>T) | |
| 15 | g.48505061C>G | CA392339025 | FBN1 | c.1924G>C (p.Gly642Arg) n.598G>C c.637-30411G>C (n.637-30411G>C) | |
| 15 | g.48505061C>T | CA392339026 | FBN1 | c.1924G>A (p.Gly642Arg) n.598G>A c.637-30411G>A (n.637-30411G>A) | ClinVar gnomAD v4 |
| 15 | g.48505063_48505070del | CA2695220775 | FBN1 | c.1917_1924del (p.Cys639TrpfsTer13) n.591_598del c.637-30418_637-30411del (n.637-30418_637-30411del) | |
| 15 | g.48505062A= | CA2175527388 | FBN1 | c.1923T= (p.Pro641=) n.597T= c.637-30412T= (n.637-30412T=) | |
| 15 | g.48505062A>C | CA490025629 | FBN1 | c.1923T>G (p.Pro641=) n.597T>G c.637-30412T>G (n.637-30412T>G) | |
| 15 | g.48505062A>G | CA490025630 | FBN1 | c.1923T>C (p.Pro641=) n.597T>C c.637-30412T>C (n.637-30412T>C) | dbSNP |
| 15 | g.48505062A>T | CA490025632 | FBN1 | c.1923T>A (p.Pro641=) n.597T>A c.637-30412T>A (n.637-30412T>A) | dbSNP |
| 15 | g.48505063G>A | CA046297 | FBN1 | c.1922C>T (p.Pro641Leu) n.596C>T c.637-30413C>T (n.637-30413C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48505063G>C | CA392339027 | FBN1 | c.1922C>G (p.Pro641Arg) n.596C>G c.637-30413C>G (n.637-30413C>G) | |
| 15 | g.48505063G= | CA2175527390 | FBN1 | c.1922C= (p.Pro641=) n.596C= c.637-30413C= (n.637-30413C=) | |
| 15 | g.48505063G>T | CA392339028 | FBN1 | c.1922C>A (p.Pro641His) n.596C>A c.637-30413C>A (n.637-30413C>A) | |
| 15 | g.48505064G>A | CA392339029 | FBN1 | c.1921C>T (p.Pro641Ser) n.595C>T c.637-30414C>T (n.637-30414C>T) | |
| 15 | g.48505064G>C | CA392339030 | FBN1 | c.1921C>G (p.Pro641Ala) n.595C>G c.637-30414C>G (n.637-30414C>G) | |
| 15 | g.48505064G>T | CA392339031 | FBN1 | c.1921C>A (p.Pro641Thr) n.595C>A c.637-30414C>A (n.637-30414C>A) | |
| 15 | g.48505065G>A | CA490025647 | FBN1 | c.1920C>T (p.Phe640=) n.594C>T c.637-30415C>T (n.637-30415C>T) | COSMIC |
| 15 | g.48505065G>C | CA392339032 | FBN1 | c.1920C>G (p.Phe640Leu) n.594C>G c.637-30415C>G (n.637-30415C>G) | |
| 15 | g.48505065G>T | CA392339033 | FBN1 | c.1920C>A (p.Phe640Leu) n.594C>A c.637-30415C>A (n.637-30415C>A) | |
| 15 | g.48505066A>C | CA392339036 | FBN1 | c.1919T>G (p.Phe640Cys) n.593T>G c.637-30416T>G (n.637-30416T>G) | |
| 15 | g.48505066A>G | CA392339034 | FBN1 | c.1919T>C (p.Phe640Ser) n.593T>C c.637-30416T>C (n.637-30416T>C) | |
| 15 | g.48505066A>T | CA392339035 | FBN1 | c.1919T>A (p.Phe640Tyr) n.593T>A c.637-30416T>A (n.637-30416T>A) | |
| 15 | g.48505067_48505082del | CA2695220776 | FBN1 | c.1904_1919del (p.Tyr635SerfsTer?) n.578_593del c.637-30431_637-30416del (n.637-30431_637-30416del) | |
| 15 | g.48505067A>C | CA392339037 | FBN1 | c.1918T>G (p.Phe640Val) n.592T>G c.637-30417T>G (n.637-30417T>G) | gnomAD v4 |
| 15 | g.48505067A>G | CA392339038 | FBN1 | c.1918T>C (p.Phe640Leu) n.592T>C c.637-30417T>C (n.637-30417T>C) | |
| 15 | g.48505067A>T | CA392339039 | FBN1 | c.1918T>A (p.Phe640Ile) n.592T>A c.637-30417T>A (n.637-30417T>A) | |
| 15 | g.48505068G>A | CA490025660 | FBN1 | c.1917C>T (p.Cys639=) n.591C>T c.637-30418C>T (n.637-30418C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48505068G>C | CA392339040 | FBN1 | c.1917C>G (p.Cys639Trp) n.591C>G c.637-30418C>G (n.637-30418C>G) | |
| 15 | g.48505068G= | CA2175527393 | FBN1 | c.1917C= (p.Cys639=) n.591C= c.637-30418C= (n.637-30418C=) | |
| 15 | g.48505068G>T | CA392339041 | FBN1 | c.1917C>A (p.Cys639Ter) n.591C>A c.637-30418C>A (n.637-30418C>A) | |
| 15 | g.48505068_48505069delinsCA | CA1139663976 | FBN1 | c.1916_1917delinsTG (p.Cys639Leu) n.590_591delinsTG c.637-30419_637-30418delinsTG (n.637-30419_637-30418delinsTG) | ClinVar dbSNP |
| 15 | g.48505068_48505069delinsGC | CA2175527394 | FBN1 | c.1916_1917delinsGC (p.Cys639=) n.590_591delinsGC c.637-30419_637-30418delinsGC (n.637-30419_637-30418delinsGC) | |
| 15 | g.48505069C>A | CA392339042 | FBN1 | c.1916G>T (p.Cys639Phe) n.590G>T c.637-30419G>T (n.637-30419G>T) | ClinVar dbSNP |
| 15 | g.48505069C= | CA2175527396 | FBN1 | c.1916G= (p.Cys639=) n.590G= c.637-30419G= (n.637-30419G=) | |
| 15 | g.48505069C>G | CA392339043 | FBN1 | c.1916G>C (p.Cys639Ser) n.590G>C c.637-30419G>C (n.637-30419G>C) | ClinVar dbSNP |
| 15 | g.48505069C>T | CA10583253 | FBN1 | c.1916G>A (p.Cys639Tyr) n.590G>A c.637-30419G>A (n.637-30419G>A) | ClinVar dbSNP |
| 15 | g.48505070A= | CA2175527398 | FBN1 | c.1915T= (p.Cys639=) n.589T= c.637-30420T= (n.637-30420T=) | |
| 15 | g.48505070A>C | CA392339044 | FBN1 | c.1915T>G (p.Cys639Gly) n.589T>G c.637-30420T>G (n.637-30420T>G) | |
| 15 | g.48505070A>G | CA392339045 | FBN1 | c.1915T>C (p.Cys639Arg) n.589T>C c.637-30420T>C (n.637-30420T>C) | ClinVar dbSNP COSMIC |
| 15 | g.48505070A>T | CA16614529 | FBN1 | c.1915T>A (p.Cys639Ser) n.589T>A c.637-30420T>A (n.637-30420T>A) | ClinVar dbSNP |
| 15 | g.48505070_48505074del | CA2695197286 | FBN1 | c.1911_1915del (p.Cys637TrpfsTer16) n.585_589del c.637-30424_637-30420del (n.637-30424_637-30420del) | ClinVar |
| 15 | g.48505071T>A | CA392339046 | FBN1 | c.1914A>T (p.Glu638Asp) n.588A>T c.637-30421A>T (n.637-30421A>T) | |
| 15 | g.48505071T>C | CA490025677 | FBN1 | c.1914A>G (p.Glu638=) n.588A>G c.637-30421A>G (n.637-30421A>G) | |
| 15 | g.48505071T>G | CA012675 | FBN1 | c.1914A>C (p.Glu638Asp) n.588A>C c.637-30421A>C (n.637-30421A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48505071T= | CA2175527401 | FBN1 | c.1914A= (p.Glu638=) n.588A= c.637-30421A= (n.637-30421A=) | |
| 15 | g.48505072T>A | CA392339047 | FBN1 | c.1913A>T (p.Glu638Val) n.587A>T c.637-30422A>T (n.637-30422A>T) | |
| 15 | g.48505072T>C | CA392339049 | FBN1 | c.1913A>G (p.Glu638Gly) n.587A>G c.637-30422A>G (n.637-30422A>G) | |
| 15 | g.48505072T>G | CA392339048 | FBN1 | c.1913A>C (p.Glu638Ala) n.587A>C c.637-30422A>C (n.637-30422A>C) | gnomAD v4 |
| 15 | g.48505074_48505078del | CA2573150788 | FBN1 | c.1909_1913del (p.Cys637MetfsTer16) n.583_587del c.637-30426_637-30422del (n.637-30426_637-30422del) | dbSNP |
| 15 | g.48505073C>A | CA392339050 | FBN1 | c.1912G>T (p.Glu638Ter) n.586G>T c.637-30423G>T (n.637-30423G>T) | |
| 15 | g.48505073C>G | CA392339051 | FBN1 | c.1912G>C (p.Glu638Gln) n.586G>C c.637-30423G>C (n.637-30423G>C) | |
| 15 | g.48505073C>T | CA392339052 | FBN1 | c.1912G>A (p.Glu638Lys) n.586G>A c.637-30423G>A (n.637-30423G>A) | ClinVar dbSNP |
| 15 | g.48505074A>C | CA392339053 | FBN1 | c.1911T>G (p.Cys637Trp) n.585T>G c.637-30424T>G (n.637-30424T>G) | |
| 15 | g.48505074A>G | CA490025691 | FBN1 | c.1911T>C (p.Cys637=) n.585T>C c.637-30424T>C (n.637-30424T>C) | COSMIC |
| 15 | g.48505074A>T | CA392339054 | FBN1 | c.1911T>A (p.Cys637Ter) n.585T>A c.637-30424T>A (n.637-30424T>A) | |
| 15 | g.48505075C>A | CA392339057 | FBN1 | c.1910G>T (p.Cys637Phe) n.584G>T c.637-30425G>T (n.637-30425G>T) | |
| 15 | g.48505075C= | CA2175527403 | FBN1 | c.1910G= (p.Cys637=) n.584G= c.637-30425G= (n.637-30425G=) | |
| 15 | g.48505075C>G | CA392339056 | FBN1 | c.1910G>C (p.Cys637Ser) n.584G>C c.637-30425G>C (n.637-30425G>C) | ClinVar dbSNP |
| 15 | g.48505075C>T | CA392339055 | FBN1 | c.1910G>A (p.Cys637Tyr) n.584G>A c.637-30425G>A (n.637-30425G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48505076A= | CA2175527405 | FBN1 | c.1909T= (p.Cys637=) n.583T= c.637-30426T= (n.637-30426T=) | |
| 15 | g.48505076A>C | CA392339058 | FBN1 | c.1909T>G (p.Cys637Gly) n.583T>G c.637-30426T>G (n.637-30426T>G) | |
| 15 | g.48505076A>G | CA353632 | FBN1 | c.1909T>C (p.Cys637Arg) n.583T>C c.637-30426T>C (n.637-30426T>C) | ClinVar dbSNP |
| 15 | g.48505076A>T | CA392339059 | FBN1 | c.1909T>A (p.Cys637Ser) n.583T>A c.637-30426T>A (n.637-30426T>A) | ClinVar |
| 15 | g.48505077T>A | CA392339060 | FBN1 | c.1908A>T (p.Arg636Ser) n.582A>T c.637-30427A>T (n.637-30427A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48505077T>C | CA10587854 | FBN1 | c.1908A>G (p.Arg636=) n.582A>G c.637-30427A>G (n.637-30427A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48505077T>G | CA392339061 | FBN1 | c.1908A>C (p.Arg636Ser) n.582A>C c.637-30427A>C (n.637-30427A>C) | |
| 15 | g.48505077T= | CA2175527408 | FBN1 | c.1908A= (p.Arg636=) n.582A= c.637-30427A= (n.637-30427A=) | |
| 15 | g.48505078C>A | CA392339064 | FBN1 | c.1907G>T (p.Arg636Ile) n.581G>T c.637-30428G>T (n.637-30428G>T) | gnomAD v4 |
| 15 | g.48505078C= | CA2175527409 | FBN1 | c.1907G= (p.Arg636=) n.581G= c.637-30428G= (n.637-30428G=) | |
| 15 | g.48505078C>G | CA392339062 | FBN1 | c.1907G>C (p.Arg636Thr) n.581G>C c.637-30428G>C (n.637-30428G>C) | |
| 15 | g.48505078C>T | CA392339063 | FBN1 | c.1907G>A (p.Arg636Lys) n.581G>A c.637-30428G>A (n.637-30428G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48505079T>A | CA392339065 | FBN1 | c.1906A>T (p.Arg636Ter) n.580A>T c.637-30429A>T (n.637-30429A>T) | |
| 15 | g.48505079T>C | CA392339066 | FBN1 | c.1906A>G (p.Arg636Gly) n.580A>G c.637-30429A>G (n.637-30429A>G) | |
| 15 | g.48505079T>G | CA490025721 | FBN1 | c.1906A>C (p.Arg636=) n.580A>C c.637-30429A>C (n.637-30429A>C) | |
| 15 | g.48505080G>A | CA490025723 | FBN1 | c.1905C>T (p.Tyr635=) n.579C>T c.637-30430C>T (n.637-30430C>T) | |
| 15 | g.48505080G>C | CA392339067 | FBN1 | c.1905C>G (p.Tyr635Ter) n.579C>G c.637-30430C>G (n.637-30430C>G) | |
| 15 | g.48505080G>T | CA392339068 | FBN1 | c.1905C>A (p.Tyr635Ter) n.579C>A c.637-30430C>A (n.637-30430C>A) | |
| 15 | g.48505081T>A | CA392339069 | FBN1 | c.1904A>T (p.Tyr635Phe) n.578A>T c.637-30431A>T (n.637-30431A>T) | |
| 15 | g.48505081T>C | CA392339070 | FBN1 | c.1904A>G (p.Tyr635Cys) n.578A>G c.637-30431A>G (n.637-30431A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48505081T>G | CA392339071 | FBN1 | c.1904A>C (p.Tyr635Ser) n.578A>C c.637-30431A>C (n.637-30431A>C) | |
| 15 | g.48505081T= | CA2175527410 | FBN1 | c.1904A= (p.Tyr635=) n.578A= c.637-30431A= (n.637-30431A=) | |
| 15 | g.48505082A>C | CA392339072 | FBN1 | c.1903T>G (p.Tyr635Asp) n.577T>G c.637-30432T>G (n.637-30432T>G) | |
| 15 | g.48505082A>G | CA392339073 | FBN1 | c.1903T>C (p.Tyr635His) n.577T>C c.637-30432T>C (n.637-30432T>C) | |
| 15 | g.48505082A>T | CA392339074 | FBN1 | c.1903T>A (p.Tyr635Asn) n.577T>A c.637-30432T>A (n.637-30432T>A) | |
| 15 | g.48505083G>A | CA490025739 | FBN1 | c.1902C>T (p.Ser634=) n.576C>T c.637-30433C>T (n.637-30433C>T) | dbSNP |
| 15 | g.48505083G>C | CA490025741 | FBN1 | c.1902C>G (p.Ser634=) n.576C>G c.637-30433C>G (n.637-30433C>G) | |
| 15 | g.48505083G= | CA2175527412 | FBN1 | c.1902C= (p.Ser634=) n.576C= c.637-30433C= (n.637-30433C=) | |
| 15 | g.48505083G>T | CA490025743 | FBN1 | c.1902C>A (p.Ser634=) n.576C>A c.637-30433C>A (n.637-30433C>A) | |
| 15 | g.48505084G>A | CA046281 | FBN1 | c.1901C>T (p.Ser634Phe) n.575C>T c.637-30434C>T (n.637-30434C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48505084G>C | CA392339075 | FBN1 | c.1901C>G (p.Ser634Cys) n.575C>G c.637-30434C>G (n.637-30434C>G) | |
| 15 | g.48505084G= | CA2175527413 | FBN1 | c.1901C= (p.Ser634=) n.575C= c.637-30434C= (n.637-30434C=) | |
| 15 | g.48505084G>T | CA392339076 | FBN1 | c.1901C>A (p.Ser634Tyr) n.575C>A c.637-30434C>A (n.637-30434C>A) | |
| 15 | g.48505085A= | CA2175527415 | FBN1 | c.1900T= (p.Ser634=) n.574T= c.637-30435T= (n.637-30435T=) | |
| 15 | g.48505085A>C | CA392339077 | FBN1 | c.1900T>G (p.Ser634Ala) n.574T>G c.637-30435T>G (n.637-30435T>G) | |
| 15 | g.48505085A>G | CA392339079 | FBN1 | c.1900T>C (p.Ser634Pro) n.574T>C c.637-30435T>C (n.637-30435T>C) | ClinVar dbSNP |
| 15 | g.48505085A>T | CA392339078 | FBN1 | c.1900T>A (p.Ser634Thr) n.574T>A c.637-30435T>A (n.637-30435T>A) | |
| 15 | g.48505086G>A | CA490025760 | FBN1 | c.1899C>T (p.Gly633=) n.573C>T c.637-30436C>T (n.637-30436C>T) | dbSNP |
| 15 | g.48505086G>C | CA490025763 | FBN1 | c.1899C>G (p.Gly633=) n.573C>G c.637-30436C>G (n.637-30436C>G) | |
| 15 | g.48505086G= | CA2175527417 | FBN1 | c.1899C= (p.Gly633=) n.573C= c.637-30436C= (n.637-30436C=) | |
| 15 | g.48505086G>T | CA490025759 | FBN1 | c.1899C>A (p.Gly633=) n.573C>A c.637-30436C>A (n.637-30436C>A) | |
| 15 | g.48505088_48505102del | CA2695220779 | FBN1 | c.1885_1899del (p.Val629_Gly633del) n.559_573del c.637-30450_637-30436del (n.637-30450_637-30436del) | |
| 15 | g.48505087C>A | CA392339080 | FBN1 | c.1898G>T (p.Gly633Val) n.572G>T c.637-30437G>T (n.637-30437G>T) | |
| 15 | g.48505087C= | CA2175527418 | FBN1 | c.1898G= (p.Gly633=) n.572G= c.637-30437G= (n.637-30437G=) | |
| 15 | g.48505087C>G | CA392339081 | FBN1 | c.1898G>C (p.Gly633Ala) n.572G>C c.637-30437G>C (n.637-30437G>C) | ClinVar dbSNP |
| 15 | g.48505087C>T | CA392339082 | FBN1 | c.1898G>A (p.Gly633Asp) n.572G>A c.637-30437G>A (n.637-30437G>A) | |
| 15 | g.48505088C>A | CA392339083 | FBN1 | c.1897G>T (p.Gly633Cys) n.571G>T c.637-30438G>T (n.637-30438G>T) | ClinVar dbSNP |
| 15 | g.48505088C>G | CA392339084 | FBN1 | c.1897G>C (p.Gly633Arg) n.571G>C c.637-30438G>C (n.637-30438G>C) | |
| 15 | g.48505088C>T | CA392339085 | FBN1 | c.1897G>A (p.Gly633Ser) n.571G>A c.637-30438G>A (n.637-30438G>A) | ClinVar dbSNP |
| 15 | g.48505089A>C | CA392339087 | FBN1 | c.1896T>G (p.Asp632Glu) n.570T>G c.637-30439T>G (n.637-30439T>G) | |
| 15 | g.48505089A>G | CA490025777 | FBN1 | c.1896T>C (p.Asp632=) n.570T>C c.637-30439T>C (n.637-30439T>C) | |
| 15 | g.48505089A>T | CA392339086 | FBN1 | c.1896T>A (p.Asp632Glu) n.570T>A c.637-30439T>A (n.637-30439T>A) | |
| 15 | g.48505090T>A | CA392339088 | FBN1 | c.1895A>T (p.Asp632Val) n.569A>T c.637-30440A>T (n.637-30440A>T) | |
| 15 | g.48505090T>C | CA392339089 | FBN1 | c.1895A>G (p.Asp632Gly) n.569A>G c.637-30440A>G (n.637-30440A>G) | gnomAD v4 |
| 15 | g.48505090T>G | CA392339090 | FBN1 | c.1895A>C (p.Asp632Ala) n.569A>C c.637-30440A>C (n.637-30440A>C) | |
| 15 | g.48505091C>A | CA392339091 | FBN1 | c.1894G>T (p.Asp632Tyr) n.568G>T c.637-30441G>T (n.637-30441G>T) | |
| 15 | g.48505091C>G | CA392339092 | FBN1 | c.1894G>C (p.Asp632His) n.568G>C c.637-30441G>C (n.637-30441G>C) | |
| 15 | g.48505091C>T | CA392339093 | FBN1 | c.1894G>A (p.Asp632Asn) n.568G>A c.637-30441G>A (n.637-30441G>A) | |
| 15 | g.48505092A= | CA2175527420 | FBN1 | c.1893T= (p.Thr631=) n.567T= c.637-30442T= (n.637-30442T=) | |
| 15 | g.48505092A>C | CA490025791 | FBN1 | c.1893T>G (p.Thr631=) n.567T>G c.637-30442T>G (n.637-30442T>G) | |
| 15 | g.48505092A>G | CA490025793 | FBN1 | c.1893T>C (p.Thr631=) n.567T>C c.637-30442T>C (n.637-30442T>C) | ClinVar dbSNP |
| 15 | g.48505092A>T | CA490025792 | FBN1 | c.1893T>A (p.Thr631=) n.567T>A c.637-30442T>A (n.637-30442T>A) | |
| 15 | g.48505093G>A | CA392339094 | FBN1 | c.1892C>T (p.Thr631Ile) n.566C>T c.637-30443C>T (n.637-30443C>T) | gnomAD v4 |
| 15 | g.48505093G>C | CA269550040 | FBN1 | c.1892C>G (p.Thr631Ser) n.566C>G c.637-30443C>G (n.637-30443C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48505093G= | CA2175527421 | FBN1 | c.1892C= (p.Thr631=) n.566C= c.637-30443C= (n.637-30443C=) | |
| 15 | g.48505093G>T | CA392339095 | FBN1 | c.1892C>A (p.Thr631Asn) n.566C>A c.637-30443C>A (n.637-30443C>A) | |
| 15 | g.48505094del | CA2580089622 | FBN1 | c.1891del (p.Thr631LeufsTer?) n.565del c.637-30444del (n.637-30444del) | ClinVar |
| 15 | g.48505094T>A | CA392339096 | FBN1 | c.1891A>T (p.Thr631Ser) n.565A>T c.637-30444A>T (n.637-30444A>T) | |
| 15 | g.48505094T>C | CA392339097 | FBN1 | c.1891A>G (p.Thr631Ala) n.565A>G c.637-30444A>G (n.637-30444A>G) | |
| 15 | g.48505094T>G | CA392339098 | FBN1 | c.1891A>C (p.Thr631Pro) n.565A>C c.637-30444A>C (n.637-30444A>C) | ClinVar dbSNP |
| 15 | g.48505094T= | CA2175527424 | FBN1 | c.1891A= (p.Thr631=) n.565A= c.637-30444A= (n.637-30444A=) | |
| 15 | g.48505095G>A | CA490025794 | FBN1 | c.1890C>T (p.Asn630=) n.564C>T c.637-30445C>T (n.637-30445C>T) | |
| 15 | g.48505095G>C | CA392339099 | FBN1 | c.1890C>G (p.Asn630Lys) n.564C>G c.637-30445C>G (n.637-30445C>G) | |
| 15 | g.48505095G= | CA2175527428 | FBN1 | c.1890C= (p.Asn630=) n.564C= c.637-30445C= (n.637-30445C=) | |
| 15 | g.48505095G>T | CA012666 | FBN1 | c.1890C>A (p.Asn630Lys) n.564C>A c.637-30445C>A (n.637-30445C>A) | ClinVar dbSNP |
| 15 | g.48505095_48505096delinsCAGA | CA2695220780 | FBN1 | c.1889_1890delinsTCTG (p.Asn630IlefsTer2) n.563_564delinsTCTG c.637-30446_637-30445delinsTCTG (n.637-30446_637-30445delinsTCTG) | |
| 15 | g.48505095_48505097delinsGTT | CA2175527427 | FBN1 | c.1888_1890delinsAAC (p.Asn630=) n.562_564delinsAAC c.637-30447_637-30445delinsAAC (n.637-30447_637-30445delinsAAC) | |
| 15 | g.48505096T>A | CA012657 | FBN1 | c.1889A>T (p.Asn630Ile) n.563A>T c.637-30446A>T (n.637-30446A>T) | ClinVar dbSNP |
| 15 | g.48505096T>C | CA392339100 | FBN1 | c.1889A>G (p.Asn630Ser) n.563A>G c.637-30446A>G (n.637-30446A>G) | |
| 15 | g.48505096T>G | CA392339101 | FBN1 | c.1889A>C (p.Asn630Thr) n.563A>C c.637-30446A>C (n.637-30446A>C) | |
| 15 | g.48505096T= | CA2175527429 | FBN1 | c.1889A= (p.Asn630=) n.563A= c.637-30446A= (n.637-30446A=) | |
| 15 | g.48505096_48505097del | CA2695220781 | FBN1 | c.1888_1889del (p.Asn630HisfsTer2) n.562_563del c.637-30447_637-30446del (n.637-30447_637-30446del) | |
| 15 | g.48505096_48505097delinsG | CA16614669 | FBN1 | c.1888_1889delinsC (p.Asn630ProfsTer?) n.562_563delinsC c.637-30447_637-30446delinsC (n.637-30447_637-30446delinsC) | ClinVar dbSNP |
| 15 | g.48505097del | CA2499223008 | FBN1 | c.1889del (p.Asn630ThrfsTer?) n.563del c.637-30446del (n.637-30446del) | dbSNP |
| 15 | g.48505097T>A | CA392339102 | FBN1 | c.1888A>T (p.Asn630Tyr) n.562A>T c.637-30447A>T (n.637-30447A>T) | ClinVar dbSNP |
| 15 | g.48505097T>C | CA392339103 | FBN1 | c.1888A>G (p.Asn630Asp) n.562A>G c.637-30447A>G (n.637-30447A>G) | dbSNP |
| 15 | g.48505097T>G | CA392339104 | FBN1 | c.1888A>C (p.Asn630His) n.562A>C c.637-30447A>C (n.637-30447A>C) | ClinVar dbSNP |
| 15 | g.48505097T= | CA2175527432 | FBN1 | c.1888A= (p.Asn630=) n.562A= c.637-30447A= (n.637-30447A=) | |
| 15 | g.48505098G>A | CA490025795 | FBN1 | c.1887C>T (p.Val629=) n.561C>T c.637-30448C>T (n.637-30448C>T) | |
| 15 | g.48505098G>C | CA490025796 | FBN1 | c.1887C>G (p.Val629=) n.561C>G c.637-30448C>G (n.637-30448C>G) | |
| 15 | g.48505098G>T | CA490025797 | FBN1 | c.1887C>A (p.Val629=) n.561C>A c.637-30448C>A (n.637-30448C>A) | |
| 15 | g.48505099A>C | CA392339106 | FBN1 | c.1886T>G (p.Val629Gly) n.560T>G c.637-30449T>G (n.637-30449T>G) | |
| 15 | g.48505099A>G | CA392339107 | FBN1 | c.1886T>C (p.Val629Ala) n.560T>C c.637-30449T>C (n.637-30449T>C) | |
| 15 | g.48505099A>T | CA392339105 | FBN1 | c.1886T>A (p.Val629Asp) n.560T>A c.637-30449T>A (n.637-30449T>A) | |
| 15 | g.48505100del | CA645587589 | FBN1 | c.1885del (p.Val629SerfsTer?) n.559del c.637-30450del (n.637-30450del) | COSMIC |
| 15 | g.48505100C>A | CA392339108 | FBN1 | c.1885G>T (p.Val629Phe) n.559G>T c.637-30450G>T (n.637-30450G>T) | |
| 15 | g.48505100C= | CA2175527434 | FBN1 | c.1885G= (p.Val629=) n.559G= c.637-30450G= (n.637-30450G=) | |
| 15 | g.48505100C>G | CA392339109 | FBN1 | c.1885G>C (p.Val629Leu) n.559G>C c.637-30450G>C (n.637-30450G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48505100C>T | CA046249 | FBN1 | c.1885G>A (p.Val629Ile) n.559G>A c.637-30450G>A (n.637-30450G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48505101G>A | CA046238 | FBN1 | c.1884C>T (p.Cys628=) n.558C>T c.637-30451C>T (n.637-30451C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48505101G>C | CA392339111 | FBN1 | c.1884C>G (p.Cys628Trp) n.558C>G c.637-30451C>G (n.637-30451C>G) | ClinVar dbSNP |
| 15 | g.48505101G= | CA2175527436 | FBN1 | c.1884C= (p.Cys628=) n.558C= c.637-30451C= (n.637-30451C=) | |
| 15 | g.48505101G>T | CA392339110 | FBN1 | c.1884C>A (p.Cys628Ter) n.558C>A c.637-30451C>A (n.637-30451C>A) | |
| 15 | g.48505101_48505103delinsTTT | CA2695220782 | FBN1 | c.1882_1884delinsAAA (p.Cys628Lys) n.556_558delinsAAA c.637-30453_637-30451delinsAAA (n.637-30453_637-30451delinsAAA) | |
| 15 | g.48505102C>A | CA392339112 | FBN1 | c.1883G>T (p.Cys628Phe) n.557G>T c.637-30452G>T (n.637-30452G>T) | ClinVar dbSNP |
| 15 | g.48505102C= | CA2175527439 | FBN1 | c.1883G= (p.Cys628=) n.557G= c.637-30452G= (n.637-30452G=) | |
| 15 | g.48505102C>G | CA392339114 | FBN1 | c.1883G>C (p.Cys628Ser) n.557G>C c.637-30452G>C (n.637-30452G>C) | ClinVar |
| 15 | g.48505102C>T | CA392339113 | FBN1 | c.1883G>A (p.Cys628Tyr) n.557G>A c.637-30452G>A (n.637-30452G>A) | ClinVar dbSNP |
| 15 | g.48505102_48505104delinsTTG | CA915946596 | FBN1 | c.1881_1883delinsCAA (p.Cys628Asn) n.555_557delinsCAA c.637-30454_637-30452delinsCAA (n.637-30454_637-30452delinsCAA) | ClinVar |
| 15 | g.48505103A>C | CA392339115 | FBN1 | c.1882T>G (p.Cys628Gly) n.556T>G c.637-30453T>G (n.637-30453T>G) | |
| 15 | g.48505103A>G | CA392339117 | FBN1 | c.1882T>C (p.Cys628Arg) n.556T>C c.637-30453T>C (n.637-30453T>C) | ClinVar dbSNP |
| 15 | g.48505103A>T | CA392339116 | FBN1 | c.1882T>A (p.Cys628Ser) n.556T>A c.637-30453T>A (n.637-30453T>A) | |
| 15 | g.48505103_48505105delinsAAC | CA2175527441 | FBN1 | c.1880_1882delinsGTT (p.Arg627=) n.554_556delinsGTT c.637-30455_637-30453delinsGTT (n.637-30455_637-30453delinsGTT) | |
| 15 | g.48505104A= | CA2175527442 | FBN1 | c.1881T= (p.Arg627=) n.555T= c.637-30454T= (n.637-30454T=) | |
| 15 | g.48505104A>C | CA490025798 | FBN1 | c.1881T>G (p.Arg627=) n.555T>G c.637-30454T>G (n.637-30454T>G) | |
| 15 | g.48505104A>G | CA490025799 | FBN1 | c.1881T>C (p.Arg627=) n.555T>C c.637-30454T>C (n.637-30454T>C) | |
| 15 | g.48505104A>T | CA490025800 | FBN1 | c.1881T>A (p.Arg627=) n.555T>A c.637-30454T>A (n.637-30454T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48505104_48505105del | CA658798349 | FBN1 | c.1880_1881del (p.Arg627LeufsTer5) n.554_555del c.637-30455_637-30454del (n.637-30455_637-30454del) | ClinVar dbSNP |
| 15 | g.48505105C>A | CA392339118 | FBN1 | c.1880G>T (p.Arg627Leu) n.554G>T c.637-30455G>T (n.637-30455G>T) | gnomAD v4 COSMIC |
| 15 | g.48505105C= | CA2175527444 | FBN1 | c.1880G= (p.Arg627=) n.554G= c.637-30455G= (n.637-30455G=) | |
| 15 | g.48505105C>G | CA392339119 | FBN1 | c.1880G>C (p.Arg627Pro) n.554G>C c.637-30455G>C (n.637-30455G>C) | COSMIC |
| 15 | g.48505105C>T | CA046227 | FBN1 | c.1880G>A (p.Arg627His) n.554G>A c.637-30455G>A (n.637-30455G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48505106G>A | CA012647 | FBN1 | c.1879C>T (p.Arg627Cys) n.553C>T c.637-30456C>T (n.637-30456C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48505106G>C | CA392339120 | FBN1 | c.1879C>G (p.Arg627Gly) n.553C>G c.637-30456C>G (n.637-30456C>G) | dbSNP |
| 15 | g.48505106G= | CA2175527446 | FBN1 | c.1879C= (p.Arg627=) n.553C= c.637-30456C= (n.637-30456C=) | |
| 15 | g.48505106G>T | CA392339121 | FBN1 | c.1879C>A (p.Arg627Ser) n.553C>A c.637-30456C>A (n.637-30456C>A) | |
| 15 | g.48505107C>A | CA490025804 | FBN1 | c.1878G>T (p.Gly626=) n.552G>T c.637-30457G>T (n.637-30457G>T) | gnomAD v4 |
| 15 | g.48505107C>G | CA490025801 | FBN1 | c.1878G>C (p.Gly626=) n.552G>C c.637-30457G>C (n.637-30457G>C) | |
| 15 | g.48505107C>T | CA490025802 | FBN1 | c.1878G>A (p.Gly626=) n.552G>A c.637-30457G>A (n.637-30457G>A) | gnomAD v4 |
| 15 | g.48505109del | CA2580089626 | FBN1 | c.1878del (p.Arg627ValfsTer?) n.552del c.637-30457del (n.637-30457del) | ClinVar |
| 15 | g.48505108C>A | CA392339122 | FBN1 | c.1877G>T (p.Gly626Val) n.551G>T c.637-30458G>T (n.637-30458G>T) | |
| 15 | g.48505108C>G | CA392339123 | FBN1 | c.1877G>C (p.Gly626Ala) n.551G>C c.637-30458G>C (n.637-30458G>C) | |
| 15 | g.48505108C>T | CA392339124 | FBN1 | c.1877G>A (p.Gly626Glu) n.551G>A c.637-30458G>A (n.637-30458G>A) | |
| 15 | g.48505109C>A | CA012638 | FBN1 | c.1876G>T (p.Gly626Trp) n.550G>T c.637-30459G>T (n.637-30459G>T) | dbSNP gnomAD v4 |
| 15 | g.48505109C= | CA2175527448 | FBN1 | c.1876G= (p.Gly626=) n.550G= c.637-30459G= (n.637-30459G=) | |
| 15 | g.48505109C>G | CA392339125 | FBN1 | c.1876G>C (p.Gly626Arg) n.550G>C c.637-30459G>C (n.637-30459G>C) | COSMIC |
| 15 | g.48505109C>T | CA10587855 | FBN1 | c.1876G>A (p.Gly626Arg) n.550G>A c.637-30459G>A (n.637-30459G>A) | ClinVar dbSNP |
| 15 | g.48505109_48505110delinsTG | CA916082406 | FBN1 | c.1875_1876delinsCA (p.Gly626Arg) n.549_550delinsCA c.637-30460_637-30459delinsCA (n.637-30460_637-30459delinsCA) | ClinVar |
| 15 | g.48505110A= | CA2175527451 | FBN1 | c.1875T= (p.Asn625=) n.549T= c.637-30460T= (n.637-30460T=) | |
| 15 | g.48505110A>C | CA392339126 | FBN1 | c.1875T>G (p.Asn625Lys) n.549T>G c.637-30460T>G (n.637-30460T>G) | |
| 15 | g.48505110A>G | CA012629 | FBN1 | c.1875T>C (p.Asn625=) n.549T>C c.637-30460T>C (n.637-30460T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48505110A>T | CA269550116 | FBN1 | c.1875T>A (p.Asn625Lys) n.549T>A c.637-30460T>A (n.637-30460T>A) | dbSNP gnomAD v4 |
| 15 | g.48505111T>A | CA392339127 | FBN1 | c.1874A>T (p.Asn625Ile) n.548A>T c.637-30461A>T (n.637-30461A>T) | |
| 15 | g.48505111T>C | CA392339129 | FBN1 | c.1874A>G (p.Asn625Ser) n.548A>G c.637-30461A>G (n.637-30461A>G) | dbSNP |
| 15 | g.48505111T>G | CA392339128 | FBN1 | c.1874A>C (p.Asn625Thr) n.548A>C c.637-30461A>C (n.637-30461A>C) | |
| 15 | g.48505111T= | CA2175527452 | FBN1 | c.1874A= (p.Asn625=) n.548A= c.637-30461A= (n.637-30461A=) | |
| 15 | g.48505112T>A | CA392339130 | FBN1 | c.1873A>T (p.Asn625Tyr) n.547A>T c.637-30462A>T (n.637-30462A>T) | |
| 15 | g.48505112T>C | CA392339131 | FBN1 | c.1873A>G (p.Asn625Asp) n.547A>G c.637-30462A>G (n.637-30462A>G) | gnomAD v4 |
| 15 | g.48505112T>G | CA392339132 | FBN1 | c.1873A>C (p.Asn625His) n.547A>C c.637-30462A>C (n.637-30462A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48505113C>A | CA392339133 | FBN1 | c.1872G>T (p.Met624Ile) n.546G>T c.637-30463G>T (n.637-30463G>T) | |
| 15 | g.48505113C>G | CA392339134 | FBN1 | c.1872G>C (p.Met624Ile) n.546G>C c.637-30463G>C (n.637-30463G>C) | ClinVar dbSNP |
| 15 | g.48505113C>T | CA392339135 | FBN1 | c.1872G>A (p.Met624Ile) n.546G>A c.637-30463G>A (n.637-30463G>A) | |
| 15 | g.48505114A= | CA2175527453 | FBN1 | c.1871T= (p.Met624=) n.545T= c.637-30464T= (n.637-30464T=) | |
| 15 | g.48505114A>C | CA392339136 | FBN1 | c.1871T>G (p.Met624Arg) n.545T>G c.637-30464T>G (n.637-30464T>G) | ClinVar dbSNP |
| 15 | g.48505114A>G | CA392339137 | FBN1 | c.1871T>C (p.Met624Thr) n.545T>C c.637-30464T>C (n.637-30464T>C) | ClinVar dbSNP |
| 15 | g.48505114A>T | CA392339138 | FBN1 | c.1871T>A (p.Met624Lys) n.545T>A c.637-30464T>A (n.637-30464T>A) | |
| 15 | g.48505115T>A | CA392339141 | FBN1 | c.1870A>T (p.Met624Leu) n.544A>T c.637-30465A>T (n.637-30465A>T) | gnomAD v4 |
| 15 | g.48505115T>C | CA392339140 | FBN1 | c.1870A>G (p.Met624Val) n.544A>G c.637-30465A>G (n.637-30465A>G) | dbSNP |
| 15 | g.48505115T>G | CA392339139 | FBN1 | c.1870A>C (p.Met624Leu) n.544A>C c.637-30465A>C (n.637-30465A>C) | |
| 15 | g.48505116G>A | CA490025849 | FBN1 | c.1869C>T (p.Cys623=) n.543C>T c.637-30466C>T (n.637-30466C>T) | dbSNP gnomAD v4 |
| 15 | g.48505116G>C | CA392339142 | FBN1 | c.1869C>G (p.Cys623Trp) n.543C>G c.637-30466C>G (n.637-30466C>G) | |
| 15 | g.48505116G= | CA2175527454 | FBN1 | c.1869C= (p.Cys623=) n.543C= c.637-30466C= (n.637-30466C=) | |
| 15 | g.48505116G>T | CA392339143 | FBN1 | c.1869C>A (p.Cys623Ter) n.543C>A c.637-30466C>A (n.637-30466C>A) | |
| 15 | g.48505117C>A | CA392339144 | FBN1 | c.1868G>T (p.Cys623Phe) n.542G>T c.637-30467G>T (n.637-30467G>T) | ClinVar dbSNP |
| 15 | g.48505117C= | CA2175527457 | FBN1 | c.1868G= (p.Cys623=) n.542G= c.637-30467G= (n.637-30467G=) | |
| 15 | g.48505117C>G | CA392339145 | FBN1 | c.1868G>C (p.Cys623Ser) n.542G>C c.637-30467G>C (n.637-30467G>C) | |
| 15 | g.48505117C>T | CA392339146 | FBN1 | c.1868G>A (p.Cys623Tyr) n.542G>A c.637-30467G>A (n.637-30467G>A) | ClinVar dbSNP COSMIC |
| 15 | g.48505117_48505118delinsAG | CA1139663977 | FBN1 | c.1867_1868delinsCT (p.Cys623Leu) n.541_542delinsCT c.637-30468_637-30467delinsCT (n.637-30468_637-30467delinsCT) | ClinVar dbSNP |
| 15 | g.48505117_48505118delinsCA | CA2175527460 | FBN1 | c.1867_1868delinsTG (p.Cys623=) n.541_542delinsTG c.637-30468_637-30467delinsTG (n.637-30468_637-30467delinsTG) | |
| 15 | g.48505118A>C | CA392339147 | FBN1 | c.1867T>G (p.Cys623Gly) n.541T>G c.637-30468T>G (n.637-30468T>G) | |
| 15 | g.48505118A>G | CA392339148 | FBN1 | c.1867T>C (p.Cys623Arg) n.541T>C c.637-30468T>C (n.637-30468T>C) | |
| 15 | g.48505118A>T | CA392339149 | FBN1 | c.1867T>A (p.Cys623Ser) n.541T>A c.637-30468T>A (n.637-30468T>A) | ClinVar dbSNP |
| 15 | g.48505119G>A | CA046207 | FBN1 | c.1866C>T (p.Ile622=) n.540C>T c.637-30469C>T (n.637-30469C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48505119G>C | CA392339150 | FBN1 | c.1866C>G (p.Ile622Met) n.540C>G c.637-30469C>G (n.637-30469C>G) | |
| 15 | g.48505119G= | CA2175527462 | FBN1 | c.1866C= (p.Ile622=) n.540C= c.637-30469C= (n.637-30469C=) | |
| 15 | g.48505119G>T | CA490025866 | FBN1 | c.1866C>A (p.Ile622=) n.540C>A c.637-30469C>A (n.637-30469C>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48505120A>C | CA392339151 | FBN1 | c.1865T>G (p.Ile622Ser) n.539T>G c.637-30470T>G (n.637-30470T>G) | |
| 15 | g.48505120A>G | CA392339152 | FBN1 | c.1865T>C (p.Ile622Thr) n.539T>C c.637-30470T>C (n.637-30470T>C) | |
| 15 | g.48505120A>T | CA392339153 | FBN1 | c.1865T>A (p.Ile622Asn) n.539T>A c.637-30470T>A (n.637-30470T>A) | |
| 15 | g.48505121T>A | CA392339154 | FBN1 | c.1864A>T (p.Ile622Phe) n.538A>T c.637-30471A>T (n.637-30471A>T) | gnomAD v4 |
| 15 | g.48505121T>C | CA392339156 | FBN1 | c.1864A>G (p.Ile622Val) n.538A>G c.637-30471A>G (n.637-30471A>G) | |
| 15 | g.48505121T>G | CA392339155 | FBN1 | c.1864A>C (p.Ile622Leu) n.538A>C c.637-30471A>C (n.637-30471A>C) | |
| 15 | g.48505122C>A | CA490025882 | FBN1 | c.1863G>T (p.Gly621=) n.537G>T c.637-30472G>T (n.637-30472G>T) | gnomAD v4 |
| 15 | g.48505122C= | CA2175527464 | FBN1 | c.1863G= (p.Gly621=) n.537G= c.637-30472G= (n.637-30472G=) | |
| 15 | g.48505122C>G | CA490025884 | FBN1 | c.1863G>C (p.Gly621=) n.537G>C c.637-30472G>C (n.637-30472G>C) | |
| 15 | g.48505122C>T | CA046193 | FBN1 | c.1863G>A (p.Gly621=) n.537G>A c.637-30472G>A (n.637-30472G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48505123C>A | CA392339157 | FBN1 | c.1862G>T (p.Gly621Val) n.536G>T c.637-30473G>T (n.637-30473G>T) | COSMIC |
| 15 | g.48505123C= | CA2175527467 | FBN1 | c.1862G= (p.Gly621=) n.536G= c.637-30473G= (n.637-30473G=) | |
| 15 | g.48505123C>G | CA392339158 | FBN1 | c.1862G>C (p.Gly621Ala) n.536G>C c.637-30473G>C (n.637-30473G>C) | |
| 15 | g.48505123C>T | CA392339159 | FBN1 | c.1862G>A (p.Gly621Glu) n.536G>A c.637-30473G>A (n.637-30473G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48505124C>A | CA392339160 | FBN1 | c.1861G>T (p.Gly621Trp) n.535G>T c.637-30474G>T (n.637-30474G>T) | |
| 15 | g.48505124C>G | CA392339161 | FBN1 | c.1861G>C (p.Gly621Arg) n.535G>C c.637-30474G>C (n.637-30474G>C) | |
| 15 | g.48505124C>T | CA392339162 | FBN1 | c.1861G>A (p.Gly621Arg) n.535G>A c.637-30474G>A (n.637-30474G>A) | |
| 15 | g.48505125del | CA2573150800 | FBN1 | c.1860del (p.Ile622SerfsTer3) n.534del c.637-30475del (n.637-30475del) | ClinVar dbSNP |
| 15 | g.48505125A= | CA2175527468 | FBN1 | c.1860T= (p.Pro620=) n.534T= c.637-30475T= (n.637-30475T=) | |
| 15 | g.48505125A>C | CA490025902 | FBN1 | c.1860T>G (p.Pro620=) n.534T>G c.637-30475T>G (n.637-30475T>G) | |
| 15 | g.48505125A>G | CA490025898 | FBN1 | c.1860T>C (p.Pro620=) n.534T>C c.637-30475T>C (n.637-30475T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48505125A>T | CA490025900 | FBN1 | c.1860T>A (p.Pro620=) n.534T>A c.637-30475T>A (n.637-30475T>A) | |
| 15 | g.48505126G>A | CA392339163 | FBN1 | c.1859C>T (p.Pro620Leu) n.533C>T c.637-30476C>T (n.637-30476C>T) | gnomAD v4 |
| 15 | g.48505126G>C | CA392339164 | FBN1 | c.1859C>G (p.Pro620Arg) n.533C>G c.637-30476C>G (n.637-30476C>G) | |
| 15 | g.48505126G>T | CA392339165 | FBN1 | c.1859C>A (p.Pro620His) n.533C>A c.637-30476C>A (n.637-30476C>A) | gnomAD v4 |
| 15 | g.48505129del | CA2740096678 | FBN1 | c.1859del (p.Pro620LeufsTer5) n.533del c.637-30476del (n.637-30476del) | ClinVar |
| 15 | g.48505127G>A | CA392339168 | FBN1 | c.1858C>T (p.Pro620Ser) n.532C>T c.637-30477C>T (n.637-30477C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48505127G>C | CA392339167 | FBN1 | c.1858C>G (p.Pro620Ala) n.532C>G c.637-30477C>G (n.637-30477C>G) | |
| 15 | g.48505127G= | CA2175527469 | FBN1 | c.1858C= (p.Pro620=) n.532C= c.637-30477C= (n.637-30477C=) | |
| 15 | g.48505127G>T | CA392339166 | FBN1 | c.1858C>A (p.Pro620Thr) n.532C>A c.637-30477C>A (n.637-30477C>A) | gnomAD v4 |
| 15 | g.48505128G>A | CA490025911 | FBN1 | c.1857C>T (p.Thr619=) n.531C>T c.637-30478C>T (n.637-30478C>T) | |
| 15 | g.48505128G>C | CA490025913 | FBN1 | c.1857C>G (p.Thr619=) n.531C>G c.637-30478C>G (n.637-30478C>G) | |
| 15 | g.48505128G>T | CA490025915 | FBN1 | c.1857C>A (p.Thr619=) n.531C>A c.637-30478C>A (n.637-30478C>A) | |
| 15 | g.48505129G>A | CA392339169 | FBN1 | c.1856C>T (p.Thr619Ile) n.530C>T c.637-30479C>T (n.637-30479C>T) | |
| 15 | g.48505129G>C | CA392339170 | FBN1 | c.1856C>G (p.Thr619Ser) n.530C>G c.637-30479C>G (n.637-30479C>G) | |
| 15 | g.48505129G= | CA2175527471 | FBN1 | c.1856C= (p.Thr619=) n.530C= c.637-30479C= (n.637-30479C=) | |
| 15 | g.48505129G>T | CA046166 | FBN1 | c.1856C>A (p.Thr619Asn) n.530C>A c.637-30479C>A (n.637-30479C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |