Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.50529248G>ACA367526686DDC,FIGNL1c.530C>T (p.Ala177Val)
c.296C>T (p.Ala99Val)
c.213-968C>T
c.435+8612C>T (n.435+8612C>T)
c.416C>T (p.Ala139Val)
n.329C>T
c.-11+13270C>T (n.-11+13270C>T)
c.179C>T (p.Ala60Val)
c.473C>T (p.Ala158Val)
 gnomAD v4
7g.50529248G>CCA367526684DDC,FIGNL1c.530C>G (p.Ala177Gly)
c.296C>G (p.Ala99Gly)
c.213-968C>G
c.435+8612C>G (n.435+8612C>G)
c.416C>G (p.Ala139Gly)
n.329C>G
c.-11+13270C>G (n.-11+13270C>G)
c.179C>G (p.Ala60Gly)
c.473C>G (p.Ala158Gly)
 dbSNP
7g.50529248G>TCA367526685DDC,FIGNL1c.530C>A (p.Ala177Asp)
c.296C>A (p.Ala99Asp)
c.213-968C>A
c.435+8612C>A (n.435+8612C>A)
c.416C>A (p.Ala139Asp)
n.329C>A
c.-11+13270C>A (n.-11+13270C>A)
c.179C>A (p.Ala60Asp)
c.473C>A (p.Ala158Asp)
7g.50529249C>ACA367526687DDC,FIGNL1c.529G>T (p.Ala177Ser)
c.295G>T (p.Ala99Ser)
c.213-969G>T
c.435+8611G>T (n.435+8611G>T)
c.415G>T (p.Ala139Ser)
n.328G>T
c.-11+13269G>T (n.-11+13269G>T)
c.178G>T (p.Ala60Ser)
c.472G>T (p.Ala158Ser)
7g.50529249C=CA1706649163DDC,FIGNL1c.529G= (p.Ala177=)
c.295G= (p.Ala99=)
c.213-969G=
c.435+8611G= (n.435+8611G=)
c.415G= (p.Ala139=)
n.328G=
c.-11+13269G= (n.-11+13269G=)
c.178G= (p.Ala60=)
c.472G= (p.Ala158=)
7g.50529249C>GCA367526688DDC,FIGNL1c.529G>C (p.Ala177Pro)
c.295G>C (p.Ala99Pro)
c.213-969G>C
c.435+8611G>C (n.435+8611G>C)
c.415G>C (p.Ala139Pro)
n.328G>C
c.-11+13269G>C (n.-11+13269G>C)
c.178G>C (p.Ala60Pro)
c.472G>C (p.Ala158Pro)
7g.50529249C>TCA367526689DDC,FIGNL1c.529G>A (p.Ala177Thr)
c.295G>A (p.Ala99Thr)
c.213-969G>A
c.435+8611G>A (n.435+8611G>A)
c.415G>A (p.Ala139Thr)
n.328G>A
c.-11+13269G>A (n.-11+13269G>A)
c.178G>A (p.Ala60Thr)
c.472G>A (p.Ala158Thr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.50529250C>ACA4262344DDC,FIGNL1c.528G>T (p.Gln176His)
c.294G>T (p.Gln98His)
c.213-970G>T
c.435+8610G>T (n.435+8610G>T)
c.414G>T (p.Gln138His)
n.327G>T
c.-11+13268G>T (n.-11+13268G>T)
c.177G>T (p.Gln59His)
c.471G>T (p.Gln157His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529250C=CA1706649165DDC,FIGNL1c.528G= (p.Gln176=)
c.294G= (p.Gln98=)
c.213-970G=
c.435+8610G= (n.435+8610G=)
c.414G= (p.Gln138=)
n.327G=
c.-11+13268G= (n.-11+13268G=)
c.177G= (p.Gln59=)
c.471G= (p.Gln157=)
7g.50529250C>GCA367526690DDC,FIGNL1c.528G>C (p.Gln176His)
c.294G>C (p.Gln98His)
c.213-970G>C
c.435+8610G>C (n.435+8610G>C)
c.414G>C (p.Gln138His)
n.327G>C
c.-11+13268G>C (n.-11+13268G>C)
c.177G>C (p.Gln59His)
c.471G>C (p.Gln157His)
7g.50529250C>TCA454937511DDC,FIGNL1c.528G>A (p.Gln176=)
c.294G>A (p.Gln98=)
c.213-970G>A
c.435+8610G>A (n.435+8610G>A)
c.414G>A (p.Gln138=)
n.327G>A
c.-11+13268G>A (n.-11+13268G>A)
c.177G>A (p.Gln59=)
c.471G>A (p.Gln157=)
 dbSNP gnomAD v2 gnomAD v4
7g.50529251T>ACA367526691DDC,FIGNL1c.527A>T (p.Gln176Leu)
c.293A>T (p.Gln98Leu)
c.213-971A>T
c.435+8609A>T (n.435+8609A>T)
c.413A>T (p.Gln138Leu)
n.326A>T
c.-11+13267A>T (n.-11+13267A>T)
c.176A>T (p.Gln59Leu)
c.470A>T (p.Gln157Leu)
 gnomAD v4
7g.50529251T>CCA4262345DDC,FIGNL1c.527A>G (p.Gln176Arg)
c.293A>G (p.Gln98Arg)
c.213-971A>G
c.435+8609A>G (n.435+8609A>G)
c.413A>G (p.Gln138Arg)
n.326A>G
c.-11+13267A>G (n.-11+13267A>G)
c.176A>G (p.Gln59Arg)
c.470A>G (p.Gln157Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529251T>GCA367526692DDC,FIGNL1c.527A>C (p.Gln176Pro)
c.293A>C (p.Gln98Pro)
c.213-971A>C
c.435+8609A>C (n.435+8609A>C)
c.413A>C (p.Gln138Pro)
n.326A>C
c.-11+13267A>C (n.-11+13267A>C)
c.176A>C (p.Gln59Pro)
c.470A>C (p.Gln157Pro)
7g.50529251T=CA1706649167DDC,FIGNL1c.527A= (p.Gln176=)
c.293A= (p.Gln98=)
c.213-971A=
c.435+8609A= (n.435+8609A=)
c.413A= (p.Gln138=)
n.326A=
c.-11+13267A= (n.-11+13267A=)
c.176A= (p.Gln59=)
c.470A= (p.Gln157=)
7g.50529252G>ACA367526693DDC,FIGNL1c.526C>T (p.Gln176Ter)
c.292C>T (p.Gln98Ter)
c.213-972C>T
c.435+8608C>T (n.435+8608C>T)
c.412C>T (p.Gln138Ter)
n.325C>T
c.-11+13266C>T (n.-11+13266C>T)
c.175C>T (p.Gln59Ter)
c.469C>T (p.Gln157Ter)
 ClinVar dbSNP gnomAD v4
7g.50529252G>CCA367526694DDC,FIGNL1c.526C>G (p.Gln176Glu)
c.292C>G (p.Gln98Glu)
c.213-972C>G
c.435+8608C>G (n.435+8608C>G)
c.412C>G (p.Gln138Glu)
n.325C>G
c.-11+13266C>G (n.-11+13266C>G)
c.175C>G (p.Gln59Glu)
c.469C>G (p.Gln157Glu)
 ClinVar dbSNP gnomAD v4
7g.50529252G=CA1706649170DDC,FIGNL1c.526C= (p.Gln176=)
c.292C= (p.Gln98=)
c.213-972C=
c.435+8608C= (n.435+8608C=)
c.412C= (p.Gln138=)
n.325C=
c.-11+13266C= (n.-11+13266C=)
c.175C= (p.Gln59=)
c.469C= (p.Gln157=)
7g.50529252G>TCA4262346DDC,FIGNL1c.526C>A (p.Gln176Lys)
c.292C>A (p.Gln98Lys)
c.213-972C>A
c.435+8608C>A (n.435+8608C>A)
c.412C>A (p.Gln138Lys)
n.325C>A
c.-11+13266C>A (n.-11+13266C>A)
c.175C>A (p.Gln59Lys)
c.469C>A (p.Gln157Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529253T>ACA454937512DDC,FIGNL1c.525A>T (p.Thr175=)
c.291A>T (p.Thr97=)
c.213-973A>T
c.435+8607A>T (n.435+8607A>T)
c.411A>T (p.Thr137=)
n.324A>T
c.-11+13265A>T (n.-11+13265A>T)
c.174A>T (p.Thr58=)
c.468A>T (p.Thr156=)
7g.50529253T>CCA454937513DDC,FIGNL1c.525A>G (p.Thr175=)
c.291A>G (p.Thr97=)
c.213-973A>G
c.435+8607A>G (n.435+8607A>G)
c.411A>G (p.Thr137=)
n.324A>G
c.-11+13265A>G (n.-11+13265A>G)
c.174A>G (p.Thr58=)
c.468A>G (p.Thr156=)
7g.50529253T>GCA454937514DDC,FIGNL1c.525A>C (p.Thr175=)
c.291A>C (p.Thr97=)
c.213-973A>C
c.435+8607A>C (n.435+8607A>C)
c.411A>C (p.Thr137=)
n.324A>C
c.-11+13265A>C (n.-11+13265A>C)
c.174A>C (p.Thr58=)
c.468A>C (p.Thr156=)
7g.50529254G>ACA367526696DDC,FIGNL1c.524C>T (p.Thr175Ile)
c.290C>T (p.Thr97Ile)
c.213-974C>T
c.435+8606C>T (n.435+8606C>T)
c.410C>T (p.Thr137Ile)
n.323C>T
c.-11+13264C>T (n.-11+13264C>T)
c.173C>T (p.Thr58Ile)
c.467C>T (p.Thr156Ile)
 gnomAD v4
7g.50529254G>CCA367526697DDC,FIGNL1c.524C>G (p.Thr175Arg)
c.290C>G (p.Thr97Arg)
c.213-974C>G
c.435+8606C>G (n.435+8606C>G)
c.410C>G (p.Thr137Arg)
n.323C>G
c.-11+13264C>G (n.-11+13264C>G)
c.173C>G (p.Thr58Arg)
c.467C>G (p.Thr156Arg)
7g.50529254G>TCA367526695DDC,FIGNL1c.524C>A (p.Thr175Lys)
c.290C>A (p.Thr97Lys)
c.213-974C>A
c.435+8606C>A (n.435+8606C>A)
c.410C>A (p.Thr137Lys)
n.323C>A
c.-11+13264C>A (n.-11+13264C>A)
c.173C>A (p.Thr58Lys)
c.467C>A (p.Thr156Lys)
7g.50529255T>ACA367526698DDC,FIGNL1c.523A>T (p.Thr175Ser)
c.289A>T (p.Thr97Ser)
c.213-975A>T
c.435+8605A>T (n.435+8605A>T)
c.409A>T (p.Thr137Ser)
n.322A>T
c.-11+13263A>T (n.-11+13263A>T)
c.172A>T (p.Thr58Ser)
c.466A>T (p.Thr156Ser)
7g.50529255T>CCA367526699DDC,FIGNL1c.523A>G (p.Thr175Ala)
c.289A>G (p.Thr97Ala)
c.213-975A>G
c.435+8605A>G (n.435+8605A>G)
c.409A>G (p.Thr137Ala)
n.322A>G
c.-11+13263A>G (n.-11+13263A>G)
c.172A>G (p.Thr58Ala)
c.466A>G (p.Thr156Ala)
7g.50529255T>GCA367526700DDC,FIGNL1c.523A>C (p.Thr175Pro)
c.289A>C (p.Thr97Pro)
c.213-975A>C
c.435+8605A>C (n.435+8605A>C)
c.409A>C (p.Thr137Pro)
n.322A>C
c.-11+13263A>C (n.-11+13263A>C)
c.172A>C (p.Thr58Pro)
c.466A>C (p.Thr156Pro)
 gnomAD v4
7g.50529256G>ACA4262347DDC,FIGNL1c.522C>T (p.Leu174=)
c.288C>T (p.Leu96=)
c.213-976C>T
c.435+8604C>T (n.435+8604C>T)
c.408C>T (p.Leu136=)
n.321C>T
c.-11+13262C>T (n.-11+13262C>T)
c.171C>T (p.Leu57=)
c.465C>T (p.Leu155=)
 dbSNP ExAC gnomAD v4
7g.50529256G>CCA454937516DDC,FIGNL1c.522C>G (p.Leu174=)
c.288C>G (p.Leu96=)
c.213-976C>G
c.435+8604C>G (n.435+8604C>G)
c.408C>G (p.Leu136=)
n.321C>G
c.-11+13262C>G (n.-11+13262C>G)
c.171C>G (p.Leu57=)
c.465C>G (p.Leu155=)
7g.50529256G=CA1706649172DDC,FIGNL1c.522C= (p.Leu174=)
c.288C= (p.Leu96=)
c.213-976C=
c.435+8604C= (n.435+8604C=)
c.408C= (p.Leu136=)
n.321C=
c.-11+13262C= (n.-11+13262C=)
c.171C= (p.Leu57=)
c.465C= (p.Leu155=)
7g.50529256G>TCA454937515DDC,FIGNL1c.522C>A (p.Leu174=)
c.288C>A (p.Leu96=)
c.213-976C>A
c.435+8604C>A (n.435+8604C>A)
c.408C>A (p.Leu136=)
n.321C>A
c.-11+13262C>A (n.-11+13262C>A)
c.171C>A (p.Leu57=)
c.465C>A (p.Leu155=)
7g.50529257A>CCA367526701DDC,FIGNL1c.521T>G (p.Leu174Arg)
c.287T>G (p.Leu96Arg)
c.213-977T>G
c.435+8603T>G (n.435+8603T>G)
c.407T>G (p.Leu136Arg)
n.320T>G
c.-11+13261T>G (n.-11+13261T>G)
c.170T>G (p.Leu57Arg)
c.464T>G (p.Leu155Arg)
7g.50529257A>GCA367526702DDC,FIGNL1c.521T>C (p.Leu174Pro)
c.287T>C (p.Leu96Pro)
c.213-977T>C
c.435+8603T>C (n.435+8603T>C)
c.407T>C (p.Leu136Pro)
n.320T>C
c.-11+13261T>C (n.-11+13261T>C)
c.170T>C (p.Leu57Pro)
c.464T>C (p.Leu155Pro)
 gnomAD v4
7g.50529257A>TCA367526703DDC,FIGNL1c.521T>A (p.Leu174His)
c.287T>A (p.Leu96His)
c.213-977T>A
c.435+8603T>A (n.435+8603T>A)
c.407T>A (p.Leu136His)
n.320T>A
c.-11+13261T>A (n.-11+13261T>A)
c.170T>A (p.Leu57His)
c.464T>A (p.Leu155His)
7g.50529258G>ACA367526704DDC,FIGNL1c.520C>T (p.Leu174Phe)
c.286C>T (p.Leu96Phe)
c.213-978C>T
c.435+8602C>T (n.435+8602C>T)
c.406C>T (p.Leu136Phe)
n.319C>T
c.-11+13260C>T (n.-11+13260C>T)
c.169C>T (p.Leu57Phe)
c.463C>T (p.Leu155Phe)
7g.50529258G>CCA367526705DDC,FIGNL1c.520C>G (p.Leu174Val)
c.286C>G (p.Leu96Val)
c.213-978C>G
c.435+8602C>G (n.435+8602C>G)
c.406C>G (p.Leu136Val)
n.319C>G
c.-11+13260C>G (n.-11+13260C>G)
c.169C>G (p.Leu57Val)
c.463C>G (p.Leu155Val)
7g.50529258G>TCA367526706DDC,FIGNL1c.520C>A (p.Leu174Ile)
c.286C>A (p.Leu96Ile)
c.213-978C>A
c.435+8602C>A (n.435+8602C>A)
c.406C>A (p.Leu136Ile)
n.319C>A
c.-11+13260C>A (n.-11+13260C>A)
c.169C>A (p.Leu57Ile)
c.463C>A (p.Leu155Ile)
7g.50529259C>ACA367526707DDC,FIGNL1c.519G>T (p.Glu173Asp)
c.285G>T (p.Glu95Asp)
c.213-979G>T
c.435+8601G>T (n.435+8601G>T)
c.405G>T (p.Glu135Asp)
n.318G>T
c.-11+13259G>T (n.-11+13259G>T)
c.168G>T (p.Glu56Asp)
c.462G>T (p.Glu154Asp)
7g.50529259C=CA1706649174DDC,FIGNL1c.519G= (p.Glu173=)
c.285G= (p.Glu95=)
c.213-979G=
c.435+8601G= (n.435+8601G=)
c.405G= (p.Glu135=)
n.318G=
c.-11+13259G= (n.-11+13259G=)
c.168G= (p.Glu56=)
c.462G= (p.Glu154=)
7g.50529259C>GCA4262348DDC,FIGNL1c.519G>C (p.Glu173Asp)
c.285G>C (p.Glu95Asp)
c.213-979G>C
c.435+8601G>C (n.435+8601G>C)
c.405G>C (p.Glu135Asp)
n.318G>C
c.-11+13259G>C (n.-11+13259G>C)
c.168G>C (p.Glu56Asp)
c.462G>C (p.Glu154Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.50529259C>TCA454937517DDC,FIGNL1c.519G>A (p.Glu173=)
c.285G>A (p.Glu95=)
c.213-979G>A
c.435+8601G>A (n.435+8601G>A)
c.405G>A (p.Glu135=)
n.318G>A
c.-11+13259G>A (n.-11+13259G>A)
c.168G>A (p.Glu56=)
c.462G>A (p.Glu154=)
 dbSNP gnomAD v3 gnomAD v4
7g.50529260T>ACA367526709DDC,FIGNL1c.518A>T (p.Glu173Val)
c.284A>T (p.Glu95Val)
c.213-980A>T
c.435+8600A>T (n.435+8600A>T)
c.404A>T (p.Glu135Val)
n.317A>T
c.-11+13258A>T (n.-11+13258A>T)
c.167A>T (p.Glu56Val)
c.461A>T (p.Glu154Val)
7g.50529260T>CCA367526710DDC,FIGNL1c.518A>G (p.Glu173Gly)
c.284A>G (p.Glu95Gly)
c.213-980A>G
c.435+8600A>G (n.435+8600A>G)
c.404A>G (p.Glu135Gly)
n.317A>G
c.-11+13258A>G (n.-11+13258A>G)
c.167A>G (p.Glu56Gly)
c.461A>G (p.Glu154Gly)
7g.50529260T>GCA367526708DDC,FIGNL1c.518A>C (p.Glu173Ala)
c.284A>C (p.Glu95Ala)
c.213-980A>C
c.435+8600A>C (n.435+8600A>C)
c.404A>C (p.Glu135Ala)
n.317A>C
c.-11+13258A>C (n.-11+13258A>C)
c.167A>C (p.Glu56Ala)
c.461A>C (p.Glu154Ala)
7g.50529261C>ACA367526711DDC,FIGNL1c.517G>T (p.Glu173Ter)
c.283G>T (p.Glu95Ter)
c.213-981G>T
c.435+8599G>T (n.435+8599G>T)
c.403G>T (p.Glu135Ter)
n.316G>T
c.-11+13257G>T (n.-11+13257G>T)
c.166G>T (p.Glu56Ter)
c.460G>T (p.Glu154Ter)
7g.50529261C>GCA367526712DDC,FIGNL1c.517G>C (p.Glu173Gln)
c.283G>C (p.Glu95Gln)
c.213-981G>C
c.435+8599G>C (n.435+8599G>C)
c.403G>C (p.Glu135Gln)
n.316G>C
c.-11+13257G>C (n.-11+13257G>C)
c.166G>C (p.Glu56Gln)
c.460G>C (p.Glu154Gln)
7g.50529261C>TCA367526713DDC,FIGNL1c.517G>A (p.Glu173Lys)
c.283G>A (p.Glu95Lys)
c.213-981G>A
c.435+8599G>A (n.435+8599G>A)
c.403G>A (p.Glu135Lys)
n.316G>A
c.-11+13257G>A (n.-11+13257G>A)
c.166G>A (p.Glu56Lys)
c.460G>A (p.Glu154Lys)
 gnomAD v4
7g.50529262T>ACA454937518DDC,FIGNL1c.516A>T (p.Pro172=)
c.282A>T (p.Pro94=)
c.213-982A>T
c.435+8598A>T (n.435+8598A>T)
c.402A>T (p.Pro134=)
n.315A>T
c.-11+13256A>T (n.-11+13256A>T)
c.165A>T (p.Pro55=)
c.459A>T (p.Pro153=)
7g.50529262T>CCA454937519DDC,FIGNL1c.516A>G (p.Pro172=)
c.282A>G (p.Pro94=)
c.213-982A>G
c.435+8598A>G (n.435+8598A>G)
c.402A>G (p.Pro134=)
n.315A>G
c.-11+13256A>G (n.-11+13256A>G)
c.165A>G (p.Pro55=)
c.459A>G (p.Pro153=)
7g.50529262T>GCA454937520DDC,FIGNL1c.516A>C (p.Pro172=)
c.282A>C (p.Pro94=)
c.213-982A>C
c.435+8598A>C (n.435+8598A>C)
c.402A>C (p.Pro134=)
n.315A>C
c.-11+13256A>C (n.-11+13256A>C)
c.165A>C (p.Pro55=)
c.459A>C (p.Pro153=)
7g.50529263G>ACA367526714DDC,FIGNL1c.515C>T (p.Pro172Leu)
c.281C>T (p.Pro94Leu)
c.213-983C>T
c.435+8597C>T (n.435+8597C>T)
c.401C>T (p.Pro134Leu)
n.314C>T
c.-11+13255C>T (n.-11+13255C>T)
c.164C>T (p.Pro55Leu)
c.458C>T (p.Pro153Leu)
7g.50529263G>CCA367526715DDC,FIGNL1c.515C>G (p.Pro172Arg)
c.281C>G (p.Pro94Arg)
c.213-983C>G
c.435+8597C>G (n.435+8597C>G)
c.401C>G (p.Pro134Arg)
n.314C>G
c.-11+13255C>G (n.-11+13255C>G)
c.164C>G (p.Pro55Arg)
c.458C>G (p.Pro153Arg)
 COSMIC COSMIC
7g.50529263G>TCA367526716DDC,FIGNL1c.515C>A (p.Pro172Gln)
c.281C>A (p.Pro94Gln)
c.213-983C>A
c.435+8597C>A (n.435+8597C>A)
c.401C>A (p.Pro134Gln)
n.314C>A
c.-11+13255C>A (n.-11+13255C>A)
c.164C>A (p.Pro55Gln)
c.458C>A (p.Pro153Gln)
 gnomAD v4
7g.50529264G>ACA367526719DDC,FIGNL1c.514C>T (p.Pro172Ser)
c.280C>T (p.Pro94Ser)
c.213-984C>T
c.435+8596C>T (n.435+8596C>T)
c.400C>T (p.Pro134Ser)
n.313C>T
c.-11+13254C>T (n.-11+13254C>T)
c.163C>T (p.Pro55Ser)
c.457C>T (p.Pro153Ser)
 gnomAD v4
7g.50529264G>CCA367526717DDC,FIGNL1c.514C>G (p.Pro172Ala)
c.280C>G (p.Pro94Ala)
c.213-984C>G
c.435+8596C>G (n.435+8596C>G)
c.400C>G (p.Pro134Ala)
n.313C>G
c.-11+13254C>G (n.-11+13254C>G)
c.163C>G (p.Pro55Ala)
c.457C>G (p.Pro153Ala)
7g.50529264G>TCA367526718DDC,FIGNL1c.514C>A (p.Pro172Thr)
c.280C>A (p.Pro94Thr)
c.213-984C>A
c.435+8596C>A (n.435+8596C>A)
c.400C>A (p.Pro134Thr)
n.313C>A
c.-11+13254C>A (n.-11+13254C>A)
c.163C>A (p.Pro55Thr)
c.457C>A (p.Pro153Thr)
7g.50529265G>ACA158232913DDC,FIGNL1c.513C>T (p.Ser171=)
c.279C>T (p.Ser93=)
c.213-985C>T
c.435+8595C>T (n.435+8595C>T)
c.399C>T (p.Ser133=)
n.312C>T
c.-11+13253C>T (n.-11+13253C>T)
c.162C>T (p.Ser54=)
c.456C>T (p.Ser152=)
 dbSNP gnomAD v3 gnomAD v4
7g.50529265G>CCA454937521DDC,FIGNL1c.513C>G (p.Ser171=)
c.279C>G (p.Ser93=)
c.213-985C>G
c.435+8595C>G (n.435+8595C>G)
c.399C>G (p.Ser133=)
n.312C>G
c.-11+13253C>G (n.-11+13253C>G)
c.162C>G (p.Ser54=)
c.456C>G (p.Ser152=)
7g.50529265G=CA1706649176DDC,FIGNL1c.513C= (p.Ser171=)
c.279C= (p.Ser93=)
c.213-985C=
c.435+8595C= (n.435+8595C=)
c.399C= (p.Ser133=)
n.312C=
c.-11+13253C= (n.-11+13253C=)
c.162C= (p.Ser54=)
c.456C= (p.Ser152=)
7g.50529265G>TCA454937522DDC,FIGNL1c.513C>A (p.Ser171=)
c.279C>A (p.Ser93=)
c.213-985C>A
c.435+8595C>A (n.435+8595C>A)
c.399C>A (p.Ser133=)
n.312C>A
c.-11+13253C>A (n.-11+13253C>A)
c.162C>A (p.Ser54=)
c.456C>A (p.Ser152=)
7g.50529266G>ACA367526720DDC,FIGNL1c.512C>T (p.Ser171Phe)
c.278C>T (p.Ser93Phe)
c.213-986C>T
c.435+8594C>T (n.435+8594C>T)
c.398C>T (p.Ser133Phe)
n.311C>T
c.-11+13252C>T (n.-11+13252C>T)
c.161C>T (p.Ser54Phe)
c.455C>T (p.Ser152Phe)
7g.50529266G>CCA367526721DDC,FIGNL1c.512C>G (p.Ser171Cys)
c.278C>G (p.Ser93Cys)
c.213-986C>G
c.435+8594C>G (n.435+8594C>G)
c.398C>G (p.Ser133Cys)
n.311C>G
c.-11+13252C>G (n.-11+13252C>G)
c.161C>G (p.Ser54Cys)
c.455C>G (p.Ser152Cys)
7g.50529266G>TCA367526722DDC,FIGNL1c.512C>A (p.Ser171Tyr)
c.278C>A (p.Ser93Tyr)
c.213-986C>A
c.435+8594C>A (n.435+8594C>A)
c.398C>A (p.Ser133Tyr)
n.311C>A
c.-11+13252C>A (n.-11+13252C>A)
c.161C>A (p.Ser54Tyr)
c.455C>A (p.Ser152Tyr)
7g.50529267A>CCA367526723DDC,FIGNL1c.511T>G (p.Ser171Ala)
c.277T>G (p.Ser93Ala)
c.213-987T>G
c.435+8593T>G (n.435+8593T>G)
c.397T>G (p.Ser133Ala)
n.310T>G
c.-11+13251T>G (n.-11+13251T>G)
c.160T>G (p.Ser54Ala)
c.454T>G (p.Ser152Ala)
7g.50529267A>GCA367526724DDC,FIGNL1c.511T>C (p.Ser171Pro)
c.277T>C (p.Ser93Pro)
c.213-987T>C
c.435+8593T>C (n.435+8593T>C)
c.397T>C (p.Ser133Pro)
n.310T>C
c.-11+13251T>C (n.-11+13251T>C)
c.160T>C (p.Ser54Pro)
c.454T>C (p.Ser152Pro)
 COSMIC COSMIC
7g.50529267A>TCA367526725DDC,FIGNL1c.511T>A (p.Ser171Thr)
c.277T>A (p.Ser93Thr)
c.213-987T>A
c.435+8593T>A (n.435+8593T>A)
c.397T>A (p.Ser133Thr)
n.310T>A
c.-11+13251T>A (n.-11+13251T>A)
c.160T>A (p.Ser54Thr)
c.454T>A (p.Ser152Thr)
7g.50529268C>ACA454937523DDC,FIGNL1c.510G>T (p.Ala170=)
c.276G>T (p.Ala92=)
c.213-988G>T
c.435+8592G>T (n.435+8592G>T)
c.396G>T (p.Ala132=)
n.309G>T
c.-11+13250G>T (n.-11+13250G>T)
c.159G>T (p.Ala53=)
c.453G>T (p.Ala151=)
7g.50529268C=CA1706649179DDC,FIGNL1c.510G= (p.Ala170=)
c.276G= (p.Ala92=)
c.213-988G=
c.435+8592G= (n.435+8592G=)
c.396G= (p.Ala132=)
n.309G=
c.-11+13250G= (n.-11+13250G=)
c.159G= (p.Ala53=)
c.453G= (p.Ala151=)
7g.50529268C>GCA454937524DDC,FIGNL1c.510G>C (p.Ala170=)
c.276G>C (p.Ala92=)
c.213-988G>C
c.435+8592G>C (n.435+8592G>C)
c.396G>C (p.Ala132=)
n.309G>C
c.-11+13250G>C (n.-11+13250G>C)
c.159G>C (p.Ala53=)
c.453G>C (p.Ala151=)
7g.50529268C>TCA4262349DDC,FIGNL1c.510G>A (p.Ala170=)
c.276G>A (p.Ala92=)
c.213-988G>A
c.435+8592G>A (n.435+8592G>A)
c.396G>A (p.Ala132=)
n.309G>A
c.-11+13250G>A (n.-11+13250G>A)
c.159G>A (p.Ala53=)
c.453G>A (p.Ala151=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.50529269G>ACA4262350DDC,FIGNL1c.509C>T (p.Ala170Val)
c.275C>T (p.Ala92Val)
c.213-989C>T
c.435+8591C>T (n.435+8591C>T)
c.395C>T (p.Ala132Val)
n.308C>T
c.-11+13249C>T (n.-11+13249C>T)
c.158C>T (p.Ala53Val)
c.452C>T (p.Ala151Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529269G>CCA367526726DDC,FIGNL1c.509C>G (p.Ala170Gly)
c.275C>G (p.Ala92Gly)
c.213-989C>G
c.435+8591C>G (n.435+8591C>G)
c.395C>G (p.Ala132Gly)
n.308C>G
c.-11+13249C>G (n.-11+13249C>G)
c.158C>G (p.Ala53Gly)
c.452C>G (p.Ala151Gly)
 gnomAD v4
7g.50529269G=CA1706649181DDC,FIGNL1c.509C= (p.Ala170=)
c.275C= (p.Ala92=)
c.213-989C=
c.435+8591C= (n.435+8591C=)
c.395C= (p.Ala132=)
n.308C=
c.-11+13249C= (n.-11+13249C=)
c.158C= (p.Ala53=)
c.452C= (p.Ala151=)
7g.50529269G>TCA367526727DDC,FIGNL1c.509C>A (p.Ala170Glu)
c.275C>A (p.Ala92Glu)
c.213-989C>A
c.435+8591C>A (n.435+8591C>A)
c.395C>A (p.Ala132Glu)
n.308C>A
c.-11+13249C>A (n.-11+13249C>A)
c.158C>A (p.Ala53Glu)
c.452C>A (p.Ala151Glu)
7g.50529270C>ACA367526728DDC,FIGNL1c.508G>T (p.Ala170Ser)
c.274G>T (p.Ala92Ser)
c.213-990G>T
c.435+8590G>T (n.435+8590G>T)
c.394G>T (p.Ala132Ser)
n.307G>T
c.-11+13248G>T (n.-11+13248G>T)
c.157G>T (p.Ala53Ser)
c.451G>T (p.Ala151Ser)
7g.50529270C>GCA367526729DDC,FIGNL1c.508G>C (p.Ala170Pro)
c.274G>C (p.Ala92Pro)
c.213-990G>C
c.435+8590G>C (n.435+8590G>C)
c.394G>C (p.Ala132Pro)
n.307G>C
c.-11+13248G>C (n.-11+13248G>C)
c.157G>C (p.Ala53Pro)
c.451G>C (p.Ala151Pro)
7g.50529270C>TCA367526730DDC,FIGNL1c.508G>A (p.Ala170Thr)
c.274G>A (p.Ala92Thr)
c.213-990G>A
c.435+8590G>A (n.435+8590G>A)
c.394G>A (p.Ala132Thr)
n.307G>A
c.-11+13248G>A (n.-11+13248G>A)
c.157G>A (p.Ala53Thr)
c.451G>A (p.Ala151Thr)
7g.50529271T>ACA454937525DDC,FIGNL1c.507A>T (p.Ala169=)
c.273A>T (p.Ala91=)
c.213-991A>T
c.435+8589A>T (n.435+8589A>T)
c.393A>T (p.Ala131=)
n.306A>T
c.-11+13247A>T (n.-11+13247A>T)
c.156A>T (p.Ala52=)
c.450A>T (p.Ala150=)
7g.50529271T>CCA454937526DDC,FIGNL1c.507A>G (p.Ala169=)
c.273A>G (p.Ala91=)
c.213-991A>G
c.435+8589A>G (n.435+8589A>G)
c.393A>G (p.Ala131=)
n.306A>G
c.-11+13247A>G (n.-11+13247A>G)
c.156A>G (p.Ala52=)
c.450A>G (p.Ala150=)
 ClinVar dbSNP
7g.50529271T>GCA454937527DDC,FIGNL1c.507A>C (p.Ala169=)
c.273A>C (p.Ala91=)
c.213-991A>C
c.435+8589A>C (n.435+8589A>C)
c.393A>C (p.Ala131=)
n.306A>C
c.-11+13247A>C (n.-11+13247A>C)
c.156A>C (p.Ala52=)
c.450A>C (p.Ala150=)
7g.50529272G>ACA367526731DDC,FIGNL1c.506C>T (p.Ala169Val)
c.272C>T (p.Ala91Val)
c.213-992C>T
c.435+8588C>T (n.435+8588C>T)
c.392C>T (p.Ala131Val)
n.305C>T
c.-11+13246C>T (n.-11+13246C>T)
c.155C>T (p.Ala52Val)
c.449C>T (p.Ala150Val)
7g.50529272G>CCA367526732DDC,FIGNL1c.506C>G (p.Ala169Gly)
c.272C>G (p.Ala91Gly)
c.213-992C>G
c.435+8588C>G (n.435+8588C>G)
c.392C>G (p.Ala131Gly)
n.305C>G
c.-11+13246C>G (n.-11+13246C>G)
c.155C>G (p.Ala52Gly)
c.449C>G (p.Ala150Gly)
7g.50529272G>TCA367526733DDC,FIGNL1c.506C>A (p.Ala169Glu)
c.272C>A (p.Ala91Glu)
c.213-992C>A
c.435+8588C>A (n.435+8588C>A)
c.392C>A (p.Ala131Glu)
n.305C>A
c.-11+13246C>A (n.-11+13246C>A)
c.155C>A (p.Ala52Glu)
c.449C>A (p.Ala150Glu)
7g.50529273C>ACA367526734DDC,FIGNL1c.505G>T (p.Ala169Ser)
c.271G>T (p.Ala91Ser)
c.213-993G>T
c.435+8587G>T (n.435+8587G>T)
c.391G>T (p.Ala131Ser)
n.304G>T
c.-11+13245G>T (n.-11+13245G>T)
c.154G>T (p.Ala52Ser)
c.448G>T (p.Ala150Ser)
7g.50529273C>GCA367526736DDC,FIGNL1c.505G>C (p.Ala169Pro)
c.271G>C (p.Ala91Pro)
c.213-993G>C
c.435+8587G>C (n.435+8587G>C)
c.391G>C (p.Ala131Pro)
n.304G>C
c.-11+13245G>C (n.-11+13245G>C)
c.154G>C (p.Ala52Pro)
c.448G>C (p.Ala150Pro)
7g.50529273C>TCA367526735DDC,FIGNL1c.505G>A (p.Ala169Thr)
c.271G>A (p.Ala91Thr)
c.213-993G>A
c.435+8587G>A (n.435+8587G>A)
c.391G>A (p.Ala131Thr)
n.304G>A
c.-11+13245G>A (n.-11+13245G>A)
c.154G>A (p.Ala52Thr)
c.448G>A (p.Ala150Thr)
 gnomAD v4
7g.50529274C>ACA367526737DDC,FIGNL1c.504G>T (p.Gln168His)
c.270G>T (p.Gln90His)
c.213-994G>T
c.435+8586G>T (n.435+8586G>T)
c.390G>T (p.Gln130His)
n.303G>T
c.-11+13244G>T (n.-11+13244G>T)
c.153G>T (p.Gln51His)
c.447G>T (p.Gln149His)
7g.50529274C>GCA367526738DDC,FIGNL1c.504G>C (p.Gln168His)
c.270G>C (p.Gln90His)
c.213-994G>C
c.435+8586G>C (n.435+8586G>C)
c.390G>C (p.Gln130His)
n.303G>C
c.-11+13244G>C (n.-11+13244G>C)
c.153G>C (p.Gln51His)
c.447G>C (p.Gln149His)
7g.50529274C>TCA454937528DDC,FIGNL1c.504G>A (p.Gln168=)
c.270G>A (p.Gln90=)
c.213-994G>A
c.435+8586G>A (n.435+8586G>A)
c.390G>A (p.Gln130=)
n.303G>A
c.-11+13244G>A (n.-11+13244G>A)
c.153G>A (p.Gln51=)
c.447G>A (p.Gln149=)
 gnomAD v4
7g.50529275T>ACA367526739DDC,FIGNL1c.503A>T (p.Gln168Leu)
c.269A>T (p.Gln90Leu)
c.213-995A>T
c.435+8585A>T (n.435+8585A>T)
c.389A>T (p.Gln130Leu)
n.302A>T
c.-11+13243A>T (n.-11+13243A>T)
c.152A>T (p.Gln51Leu)
c.446A>T (p.Gln149Leu)
7g.50529275T>CCA367526740DDC,FIGNL1c.503A>G (p.Gln168Arg)
c.269A>G (p.Gln90Arg)
c.213-995A>G
c.435+8585A>G (n.435+8585A>G)
c.389A>G (p.Gln130Arg)
n.302A>G
c.-11+13243A>G (n.-11+13243A>G)
c.152A>G (p.Gln51Arg)
c.446A>G (p.Gln149Arg)
7g.50529275T>GCA367526741DDC,FIGNL1c.503A>C (p.Gln168Pro)
c.269A>C (p.Gln90Pro)
c.213-995A>C
c.435+8585A>C (n.435+8585A>C)
c.389A>C (p.Gln130Pro)
n.302A>C
c.-11+13243A>C (n.-11+13243A>C)
c.152A>C (p.Gln51Pro)
c.446A>C (p.Gln149Pro)
7g.50529276G>ACA367526742DDC,FIGNL1c.502C>T (p.Gln168Ter)
c.268C>T (p.Gln90Ter)
c.213-996C>T
c.435+8584C>T (n.435+8584C>T)
c.388C>T (p.Gln130Ter)
n.301C>T
c.-11+13242C>T (n.-11+13242C>T)
c.151C>T (p.Gln51Ter)
c.445C>T (p.Gln149Ter)
 gnomAD v4
7g.50529276G>CCA367526744DDC,FIGNL1c.502C>G (p.Gln168Glu)
c.268C>G (p.Gln90Glu)
c.213-996C>G
c.435+8584C>G (n.435+8584C>G)
c.388C>G (p.Gln130Glu)
n.301C>G
c.-11+13242C>G (n.-11+13242C>G)
c.151C>G (p.Gln51Glu)
c.445C>G (p.Gln149Glu)
 dbSNP gnomAD v2 gnomAD v4
7g.50529276G=CA1706649183DDC,FIGNL1c.502C= (p.Gln168=)
c.268C= (p.Gln90=)
c.213-996C=
c.435+8584C= (n.435+8584C=)
c.388C= (p.Gln130=)
n.301C=
c.-11+13242C= (n.-11+13242C=)
c.151C= (p.Gln51=)
c.445C= (p.Gln149=)
7g.50529276G>TCA367526743DDC,FIGNL1c.502C>A (p.Gln168Lys)
c.268C>A (p.Gln90Lys)
c.213-996C>A
c.435+8584C>A (n.435+8584C>A)
c.388C>A (p.Gln130Lys)
n.301C>A
c.-11+13242C>A (n.-11+13242C>A)
c.151C>A (p.Gln51Lys)
c.445C>A (p.Gln149Lys)
7g.50529277C>ACA454937530DDC,FIGNL1c.501G>T (p.Leu167=)
c.267G>T (p.Leu89=)
c.213-997G>T
c.435+8583G>T (n.435+8583G>T)
c.387G>T (p.Leu129=)
n.300G>T
c.-11+13241G>T (n.-11+13241G>T)
c.150G>T (p.Leu50=)
c.444G>T (p.Leu148=)
 COSMIC
7g.50529277C>GCA454937531DDC,FIGNL1c.501G>C (p.Leu167=)
c.267G>C (p.Leu89=)
c.213-997G>C
c.435+8583G>C (n.435+8583G>C)
c.387G>C (p.Leu129=)
n.300G>C
c.-11+13241G>C (n.-11+13241G>C)
c.150G>C (p.Leu50=)
c.444G>C (p.Leu148=)
7g.50529277C>TCA454937529DDC,FIGNL1c.501G>A (p.Leu167=)
c.267G>A (p.Leu89=)
c.213-997G>A
c.435+8583G>A (n.435+8583G>A)
c.387G>A (p.Leu129=)
n.300G>A
c.-11+13241G>A (n.-11+13241G>A)
c.150G>A (p.Leu50=)
c.444G>A (p.Leu148=)
7g.50529278A>CCA367526745DDC,FIGNL1c.500T>G (p.Leu167Arg)
c.266T>G (p.Leu89Arg)
c.213-998T>G
c.435+8582T>G (n.435+8582T>G)
c.386T>G (p.Leu129Arg)
n.299T>G
c.-11+13240T>G (n.-11+13240T>G)
c.149T>G (p.Leu50Arg)
c.443T>G (p.Leu148Arg)
7g.50529278A>GCA367526746DDC,FIGNL1c.500T>C (p.Leu167Pro)
c.266T>C (p.Leu89Pro)
c.213-998T>C
c.435+8582T>C (n.435+8582T>C)
c.386T>C (p.Leu129Pro)
n.299T>C
c.-11+13240T>C (n.-11+13240T>C)
c.149T>C (p.Leu50Pro)
c.443T>C (p.Leu148Pro)
7g.50529278A>TCA367526747DDC,FIGNL1c.500T>A (p.Leu167Gln)
c.266T>A (p.Leu89Gln)
c.213-998T>A
c.435+8582T>A (n.435+8582T>A)
c.386T>A (p.Leu129Gln)
n.299T>A
c.-11+13240T>A (n.-11+13240T>A)
c.149T>A (p.Leu50Gln)
c.443T>A (p.Leu148Gln)
7g.50529279G>ACA454937532DDC,FIGNL1c.499C>T (p.Leu167=)
c.265C>T (p.Leu89=)
c.213-999C>T
c.435+8581C>T (n.435+8581C>T)
c.385C>T (p.Leu129=)
n.298C>T
c.-11+13239C>T (n.-11+13239C>T)
c.148C>T (p.Leu50=)
c.442C>T (p.Leu148=)
7g.50529279G>CCA367526748DDC,FIGNL1c.499C>G (p.Leu167Val)
c.265C>G (p.Leu89Val)
c.213-999C>G
c.435+8581C>G (n.435+8581C>G)
c.385C>G (p.Leu129Val)
n.298C>G
c.-11+13239C>G (n.-11+13239C>G)
c.148C>G (p.Leu50Val)
c.442C>G (p.Leu148Val)
7g.50529279G>TCA367526749DDC,FIGNL1c.499C>A (p.Leu167Met)
c.265C>A (p.Leu89Met)
c.213-999C>A
c.435+8581C>A (n.435+8581C>A)
c.385C>A (p.Leu129Met)
n.298C>A
c.-11+13239C>A (n.-11+13239C>A)
c.148C>A (p.Leu50Met)
c.442C>A (p.Leu148Met)
7g.50529279_50529280delinsGCCA1706649185DDC,FIGNL1c.498_499delinsGC (p.Arg166=)
c.264_265delinsGC (p.Arg88=)
c.213-1000_213-999delinsGC
c.435+8580_435+8581delinsGC (n.435+8580_435+8581delinsGC)
c.384_385delinsGC (p.Arg128=)
n.297_298delinsGC
c.-11+13238_-11+13239delinsGC (n.-11+13238_-11+13239delinsGC)
c.147_148delinsGC (p.Arg49=)
c.441_442delinsGC (p.Arg147=)
7g.50529280C>ACA454937535DDC,FIGNL1c.498G>T (p.Arg166=)
c.264G>T (p.Arg88=)
c.213-1000G>T
c.435+8580G>T (n.435+8580G>T)
c.384G>T (p.Arg128=)
n.297G>T
c.-11+13238G>T (n.-11+13238G>T)
c.147G>T (p.Arg49=)
c.441G>T (p.Arg147=)
7g.50529280C>GCA454937533DDC,FIGNL1c.498G>C (p.Arg166=)
c.264G>C (p.Arg88=)
c.213-1000G>C
c.435+8580G>C (n.435+8580G>C)
c.384G>C (p.Arg128=)
n.297G>C
c.-11+13238G>C (n.-11+13238G>C)
c.147G>C (p.Arg49=)
c.441G>C (p.Arg147=)
7g.50529280C>TCA454937534DDC,FIGNL1c.498G>A (p.Arg166=)
c.264G>A (p.Arg88=)
c.213-1000G>A
c.435+8580G>A (n.435+8580G>A)
c.384G>A (p.Arg128=)
n.297G>A
c.-11+13238G>A (n.-11+13238G>A)
c.147G>A (p.Arg49=)
c.441G>A (p.Arg147=)
 gnomAD v4
7g.50529281delCA918003248DDC,FIGNL1c.498del (p.Leu167CysfsTer?)
c.264del (p.Leu89CysfsTer?)
c.213-1000del
c.435+8580del (n.435+8580del)
c.384del (p.Leu129CysfsTer?)
n.297del
c.-11+13238del (n.-11+13238del)
c.147del (p.Leu50CysfsTer?)
c.441del (p.Leu148CysfsTer?)
 dbSNP
7g.50529281C>ACA367526750DDC,FIGNL1c.497G>T (p.Arg166Leu)
c.263G>T (p.Arg88Leu)
c.213-1001G>T
c.435+8579G>T (n.435+8579G>T)
c.383G>T (p.Arg128Leu)
n.296G>T
c.-11+13237G>T (n.-11+13237G>T)
c.146G>T (p.Arg49Leu)
c.440G>T (p.Arg147Leu)
 gnomAD v4
7g.50529281C=CA1706649188DDC,FIGNL1c.497G= (p.Arg166=)
c.263G= (p.Arg88=)
c.213-1001G=
c.435+8579G= (n.435+8579G=)
c.383G= (p.Arg128=)
n.296G=
c.-11+13237G= (n.-11+13237G=)
c.146G= (p.Arg49=)
c.440G= (p.Arg147=)
7g.50529281C>GCA4262351DDC,FIGNL1c.497G>C (p.Arg166Pro)
c.263G>C (p.Arg88Pro)
c.213-1001G>C
c.435+8579G>C (n.435+8579G>C)
c.383G>C (p.Arg128Pro)
n.296G>C
c.-11+13237G>C (n.-11+13237G>C)
c.146G>C (p.Arg49Pro)
c.440G>C (p.Arg147Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529281C>TCA4262352DDC,FIGNL1c.497G>A (p.Arg166Gln)
c.263G>A (p.Arg88Gln)
c.213-1001G>A
c.435+8579G>A (n.435+8579G>A)
c.383G>A (p.Arg128Gln)
n.296G>A
c.-11+13237G>A (n.-11+13237G>A)
c.146G>A (p.Arg49Gln)
c.440G>A (p.Arg147Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50529282G>ACA4262353DDC,FIGNL1c.496C>T (p.Arg166Trp)
c.262C>T (p.Arg88Trp)
c.213-1002C>T
c.435+8578C>T (n.435+8578C>T)
c.382C>T (p.Arg128Trp)
n.295C>T
c.-11+13236C>T (n.-11+13236C>T)
c.145C>T (p.Arg49Trp)
c.439C>T (p.Arg147Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.50529282G>CCA367526751DDC,FIGNL1c.496C>G (p.Arg166Gly)
c.262C>G (p.Arg88Gly)
c.213-1002C>G
c.435+8578C>G (n.435+8578C>G)
c.382C>G (p.Arg128Gly)
n.295C>G
c.-11+13236C>G (n.-11+13236C>G)
c.145C>G (p.Arg49Gly)
c.439C>G (p.Arg147Gly)
7g.50529282G=CA1706649190DDC,FIGNL1c.496C= (p.Arg166=)
c.262C= (p.Arg88=)
c.213-1002C=
c.435+8578C= (n.435+8578C=)
c.382C= (p.Arg128=)
n.295C=
c.-11+13236C= (n.-11+13236C=)
c.145C= (p.Arg49=)
c.439C= (p.Arg147=)
7g.50529282G>TCA454937536DDC,FIGNL1c.496C>A (p.Arg166=)
c.262C>A (p.Arg88=)
c.213-1002C>A
c.435+8578C>A (n.435+8578C>A)
c.382C>A (p.Arg128=)
n.295C>A
c.-11+13236C>A (n.-11+13236C>A)
c.145C>A (p.Arg49=)
c.439C>A (p.Arg147=)
 dbSNP
7g.50529283A>CCA367526752DDC,FIGNL1c.495T>G (p.His165Gln)
c.261T>G (p.His87Gln)
c.213-1003T>G
c.435+8577T>G (n.435+8577T>G)
c.381T>G (p.His127Gln)
n.294T>G
c.-11+13235T>G (n.-11+13235T>G)
c.144T>G (p.His48Gln)
c.438T>G (p.His146Gln)
7g.50529283A>GCA454937537DDC,FIGNL1c.495T>C (p.His165=)
c.261T>C (p.His87=)
c.213-1003T>C
c.435+8577T>C (n.435+8577T>C)
c.381T>C (p.His127=)
n.294T>C
c.-11+13235T>C (n.-11+13235T>C)
c.144T>C (p.His48=)
c.438T>C (p.His146=)
7g.50529283A>TCA367526753DDC,FIGNL1c.495T>A (p.His165Gln)
c.261T>A (p.His87Gln)
c.213-1003T>A
c.435+8577T>A (n.435+8577T>A)
c.381T>A (p.His127Gln)
n.294T>A
c.-11+13235T>A (n.-11+13235T>A)
c.144T>A (p.His48Gln)
c.438T>A (p.His146Gln)
7g.50529284T>ACA367526754DDC,FIGNL1c.494A>T (p.His165Leu)
c.260A>T (p.His87Leu)
c.213-1004A>T
c.435+8576A>T (n.435+8576A>T)
c.380A>T (p.His127Leu)
n.293A>T
c.-11+13234A>T (n.-11+13234A>T)
c.143A>T (p.His48Leu)
c.437A>T (p.His146Leu)
7g.50529284T>CCA367526756DDC,FIGNL1c.494A>G (p.His165Arg)
c.260A>G (p.His87Arg)
c.213-1004A>G
c.435+8576A>G (n.435+8576A>G)
c.380A>G (p.His127Arg)
n.293A>G
c.-11+13234A>G (n.-11+13234A>G)
c.143A>G (p.His48Arg)
c.437A>G (p.His146Arg)
 ClinVar
7g.50529284T>GCA367526755DDC,FIGNL1c.494A>C (p.His165Pro)
c.260A>C (p.His87Pro)
c.213-1004A>C
c.435+8576A>C (n.435+8576A>C)
c.380A>C (p.His127Pro)
n.293A>C
c.-11+13234A>C (n.-11+13234A>C)
c.143A>C (p.His48Pro)
c.437A>C (p.His146Pro)
7g.50529285G>ACA367526757DDC,FIGNL1c.493C>T (p.His165Tyr)
c.259C>T (p.His87Tyr)
c.213-1005C>T
c.435+8575C>T (n.435+8575C>T)
c.379C>T (p.His127Tyr)
n.292C>T
c.-11+13233C>T (n.-11+13233C>T)
c.142C>T (p.His48Tyr)
c.436C>T (p.His146Tyr)
 dbSNP gnomAD v3 gnomAD v4
7g.50529285G>CCA367526758DDC,FIGNL1c.493C>G (p.His165Asp)
c.259C>G (p.His87Asp)
c.213-1005C>G
c.435+8575C>G (n.435+8575C>G)
c.379C>G (p.His127Asp)
n.292C>G
c.-11+13233C>G (n.-11+13233C>G)
c.142C>G (p.His48Asp)
c.436C>G (p.His146Asp)
7g.50529285G=CA1706649191DDC,FIGNL1c.493C= (p.His165=)
c.259C= (p.His87=)
c.213-1005C=
c.435+8575C= (n.435+8575C=)
c.379C= (p.His127=)
n.292C=
c.-11+13233C= (n.-11+13233C=)
c.142C= (p.His48=)
c.436C= (p.His146=)
7g.50529285G>TCA367526759DDC,FIGNL1c.493C>A (p.His165Asn)
c.259C>A (p.His87Asn)
c.213-1005C>A
c.435+8575C>A (n.435+8575C>A)
c.379C>A (p.His127Asn)
n.292C>A
c.-11+13233C>A (n.-11+13233C>A)
c.142C>A (p.His48Asn)
c.436C>A (p.His146Asn)
7g.50529286delCA2682812979DDC,FIGNL1c.493del (p.His165IlefsTer?)
c.259del (p.His87IlefsTer?)
c.213-1005del
c.435+8575del (n.435+8575del)
c.379del (p.His127IlefsTer?)
n.292del
c.-11+13233del (n.-11+13233del)
c.142del (p.His48IlefsTer?)
c.436del (p.His146IlefsTer?)
 gnomAD v4
7g.50529286G>ACA454937538DDC,FIGNL1c.492C>T (p.Ile164=)
c.258C>T (p.Ile86=)
c.213-1006C>T
c.435+8574C>T (n.435+8574C>T)
c.378C>T (p.Ile126=)
n.291C>T
c.-11+13232C>T (n.-11+13232C>T)
c.141C>T (p.Ile47=)
c.435C>T (p.Ile145=)
7g.50529286G>CCA367526760DDC,FIGNL1c.492C>G (p.Ile164Met)
c.258C>G (p.Ile86Met)
c.213-1006C>G
c.435+8574C>G (n.435+8574C>G)
c.378C>G (p.Ile126Met)
n.291C>G
c.-11+13232C>G (n.-11+13232C>G)
c.141C>G (p.Ile47Met)
c.435C>G (p.Ile145Met)
7g.50529286G>TCA454937539DDC,FIGNL1c.492C>A (p.Ile164=)
c.258C>A (p.Ile86=)
c.213-1006C>A
c.435+8574C>A (n.435+8574C>A)
c.378C>A (p.Ile126=)
n.291C>A
c.-11+13232C>A (n.-11+13232C>A)
c.141C>A (p.Ile47=)
c.435C>A (p.Ile145=)
7g.50529287A=CA1706649193DDC,FIGNL1c.491T= (p.Ile164=)
c.257T= (p.Ile86=)
c.213-1007T=
c.435+8573T= (n.435+8573T=)
c.377T= (p.Ile126=)
n.290T=
c.-11+13231T= (n.-11+13231T=)
c.140T= (p.Ile47=)
c.434T= (p.Ile145=)
7g.50529287A>CCA367526761DDC,FIGNL1c.491T>G (p.Ile164Ser)
c.257T>G (p.Ile86Ser)
c.213-1007T>G
c.435+8573T>G (n.435+8573T>G)
c.377T>G (p.Ile126Ser)
n.290T>G
c.-11+13231T>G (n.-11+13231T>G)
c.140T>G (p.Ile47Ser)
c.434T>G (p.Ile145Ser)
7g.50529287A>GCA367526762DDC,FIGNL1c.491T>C (p.Ile164Thr)
c.257T>C (p.Ile86Thr)
c.213-1007T>C
c.435+8573T>C (n.435+8573T>C)
c.377T>C (p.Ile126Thr)
n.290T>C
c.-11+13231T>C (n.-11+13231T>C)
c.140T>C (p.Ile47Thr)
c.434T>C (p.Ile145Thr)
 dbSNP
7g.50529287A>TCA367526763DDC,FIGNL1c.491T>A (p.Ile164Asn)
c.257T>A (p.Ile86Asn)
c.213-1007T>A
c.435+8573T>A (n.435+8573T>A)
c.377T>A (p.Ile126Asn)
n.290T>A
c.-11+13231T>A (n.-11+13231T>A)
c.140T>A (p.Ile47Asn)
c.434T>A (p.Ile145Asn)
7g.50529288T>ACA367526764DDC,FIGNL1c.490A>T (p.Ile164Phe)
c.256A>T (p.Ile86Phe)
c.213-1008A>T
c.435+8572A>T (n.435+8572A>T)
c.376A>T (p.Ile126Phe)
n.289A>T
c.-11+13230A>T (n.-11+13230A>T)
c.139A>T (p.Ile47Phe)
c.433A>T (p.Ile145Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.50529288T>CCA367526765DDC,FIGNL1c.490A>G (p.Ile164Val)
c.256A>G (p.Ile86Val)
c.213-1008A>G
c.435+8572A>G (n.435+8572A>G)
c.376A>G (p.Ile126Val)
n.289A>G
c.-11+13230A>G (n.-11+13230A>G)
c.139A>G (p.Ile47Val)
c.433A>G (p.Ile145Val)
7g.50529288T>GCA367526766DDC,FIGNL1c.490A>C (p.Ile164Leu)
c.256A>C (p.Ile86Leu)
c.213-1008A>C
c.435+8572A>C (n.435+8572A>C)
c.376A>C (p.Ile126Leu)
n.289A>C
c.-11+13230A>C (n.-11+13230A>C)
c.139A>C (p.Ile47Leu)
c.433A>C (p.Ile145Leu)
7g.50529288T=CA1706649195DDC,FIGNL1c.490A= (p.Ile164=)
c.256A= (p.Ile86=)
c.213-1008A=
c.435+8572A= (n.435+8572A=)
c.376A= (p.Ile126=)
n.289A=
c.-11+13230A= (n.-11+13230A=)
c.139A= (p.Ile47=)
c.433A= (p.Ile145=)
7g.50529289C>ACA454937540DDC,FIGNL1c.489G>T (p.Val163=)
c.255G>T (p.Val85=)
c.213-1009G>T
c.435+8571G>T (n.435+8571G>T)
c.375G>T (p.Val125=)
n.288G>T
c.-11+13229G>T (n.-11+13229G>T)
c.138G>T (p.Val46=)
c.432G>T (p.Val144=)
7g.50529289C>GCA454937541DDC,FIGNL1c.489G>C (p.Val163=)
c.255G>C (p.Val85=)
c.213-1009G>C
c.435+8571G>C (n.435+8571G>C)
c.375G>C (p.Val125=)
n.288G>C
c.-11+13229G>C (n.-11+13229G>C)
c.138G>C (p.Val46=)
c.432G>C (p.Val144=)
7g.50529289C>TCA454937542DDC,FIGNL1c.489G>A (p.Val163=)
c.255G>A (p.Val85=)
c.213-1009G>A
c.435+8571G>A (n.435+8571G>A)
c.375G>A (p.Val125=)
n.288G>A
c.-11+13229G>A (n.-11+13229G>A)
c.138G>A (p.Val46=)
c.432G>A (p.Val144=)
 COSMIC COSMIC
7g.50529290A>CCA367526767DDC,FIGNL1c.488T>G (p.Val163Gly)
c.254T>G (p.Val85Gly)
c.213-1010T>G
c.435+8570T>G (n.435+8570T>G)
c.374T>G (p.Val125Gly)
n.287T>G
c.-11+13228T>G (n.-11+13228T>G)
c.137T>G (p.Val46Gly)
c.431T>G (p.Val144Gly)
7g.50529290A>GCA367526768DDC,FIGNL1c.488T>C (p.Val163Ala)
c.254T>C (p.Val85Ala)
c.213-1010T>C
c.435+8570T>C (n.435+8570T>C)
c.374T>C (p.Val125Ala)
n.287T>C
c.-11+13228T>C (n.-11+13228T>C)
c.137T>C (p.Val46Ala)
c.431T>C (p.Val144Ala)
7g.50529290A>TCA367526769DDC,FIGNL1c.488T>A (p.Val163Glu)
c.254T>A (p.Val85Glu)
c.213-1010T>A
c.435+8570T>A (n.435+8570T>A)
c.374T>A (p.Val125Glu)
n.287T>A
c.-11+13228T>A (n.-11+13228T>A)
c.137T>A (p.Val46Glu)
c.431T>A (p.Val144Glu)
7g.50529291C>ACA367526772DDC,FIGNL1c.487G>T (p.Val163Leu)
c.253G>T (p.Val85Leu)
c.213-1011G>T
c.435+8569G>T (n.435+8569G>T)
c.373G>T (p.Val125Leu)
n.286G>T
c.-11+13227G>T (n.-11+13227G>T)
c.136G>T (p.Val46Leu)
c.430G>T (p.Val144Leu)
7g.50529291C>GCA367526770DDC,FIGNL1c.487G>C (p.Val163Leu)
c.253G>C (p.Val85Leu)
c.213-1011G>C
c.435+8569G>C (n.435+8569G>C)
c.373G>C (p.Val125Leu)
n.286G>C
c.-11+13227G>C (n.-11+13227G>C)
c.136G>C (p.Val46Leu)
c.430G>C (p.Val144Leu)
7g.50529291C>TCA367526771DDC,FIGNL1c.487G>A (p.Val163Met)
c.253G>A (p.Val85Met)
c.213-1011G>A
c.435+8569G>A (n.435+8569G>A)
c.373G>A (p.Val125Met)
n.286G>A
c.-11+13227G>A (n.-11+13227G>A)
c.136G>A (p.Val46Met)
c.430G>A (p.Val144Met)
 gnomAD v4
7g.50529292T>ACA367526773DDC,FIGNL1c.486A>T (p.Lys162Asn)
c.252A>T (p.Lys84Asn)
c.213-1012A>T
c.435+8568A>T (n.435+8568A>T)
c.372A>T (p.Lys124Asn)
n.285A>T
c.-11+13226A>T (n.-11+13226A>T)
c.135A>T (p.Lys45Asn)
c.429A>T (p.Lys143Asn)
7g.50529292T>CCA454937543DDC,FIGNL1c.486A>G (p.Lys162=)
c.252A>G (p.Lys84=)
c.213-1012A>G
c.435+8568A>G (n.435+8568A>G)
c.372A>G (p.Lys124=)
n.285A>G
c.-11+13226A>G (n.-11+13226A>G)
c.135A>G (p.Lys45=)
c.429A>G (p.Lys143=)
7g.50529292T>GCA4262354DDC,FIGNL1c.486A>C (p.Lys162Asn)
c.252A>C (p.Lys84Asn)
c.213-1012A>C
c.435+8568A>C (n.435+8568A>C)
c.372A>C (p.Lys124Asn)
n.285A>C
c.-11+13226A>C (n.-11+13226A>C)
c.135A>C (p.Lys45Asn)
c.429A>C (p.Lys143Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50529292T=CA1706649197DDC,FIGNL1c.486A= (p.Lys162=)
c.252A= (p.Lys84=)
c.213-1012A=
c.435+8568A= (n.435+8568A=)
c.372A= (p.Lys124=)
n.285A=
c.-11+13226A= (n.-11+13226A=)
c.135A= (p.Lys45=)
c.429A= (p.Lys143=)
7g.50529293T>ACA367526774DDC,FIGNL1c.485A>T (p.Lys162Ile)
c.251A>T (p.Lys84Ile)
c.213-1013A>T
c.435+8567A>T (n.435+8567A>T)
c.371A>T (p.Lys124Ile)
n.284A>T
c.-11+13225A>T (n.-11+13225A>T)
c.134A>T (p.Lys45Ile)
c.428A>T (p.Lys143Ile)
7g.50529293T>CCA158232914DDC,FIGNL1c.485A>G (p.Lys162Arg)
c.251A>G (p.Lys84Arg)
c.213-1013A>G
c.435+8567A>G (n.435+8567A>G)
c.371A>G (p.Lys124Arg)
n.284A>G
c.-11+13225A>G (n.-11+13225A>G)
c.134A>G (p.Lys45Arg)
c.428A>G (p.Lys143Arg)
 dbSNP
7g.50529293T>GCA367526775DDC,FIGNL1c.485A>C (p.Lys162Thr)
c.251A>C (p.Lys84Thr)
c.213-1013A>C
c.435+8567A>C (n.435+8567A>C)
c.371A>C (p.Lys124Thr)
n.284A>C
c.-11+13225A>C (n.-11+13225A>C)
c.134A>C (p.Lys45Thr)
c.428A>C (p.Lys143Thr)
 ClinVar gnomAD v4
7g.50529293T=CA1706649199DDC,FIGNL1c.485A= (p.Lys162=)
c.251A= (p.Lys84=)
c.213-1013A=
c.435+8567A= (n.435+8567A=)
c.371A= (p.Lys124=)
n.284A=
c.-11+13225A= (n.-11+13225A=)
c.134A= (p.Lys45=)
c.428A= (p.Lys143=)
7g.50529294T>ACA367526776DDC,FIGNL1c.484A>T (p.Lys162Ter)
c.250A>T (p.Lys84Ter)
c.213-1014A>T
c.435+8566A>T (n.435+8566A>T)
c.370A>T (p.Lys124Ter)
n.283A>T
c.-11+13224A>T (n.-11+13224A>T)
c.133A>T (p.Lys45Ter)
c.427A>T (p.Lys143Ter)
7g.50529294T>CCA367526777DDC,FIGNL1c.484A>G (p.Lys162Glu)
c.250A>G (p.Lys84Glu)
c.213-1014A>G
c.435+8566A>G (n.435+8566A>G)
c.370A>G (p.Lys124Glu)
n.283A>G
c.-11+13224A>G (n.-11+13224A>G)
c.133A>G (p.Lys45Glu)
c.427A>G (p.Lys143Glu)
 dbSNP
7g.50529294T>GCA367526778DDC,FIGNL1c.484A>C (p.Lys162Gln)
c.250A>C (p.Lys84Gln)
c.213-1014A>C
c.435+8566A>C (n.435+8566A>C)
c.370A>C (p.Lys124Gln)
n.283A>C
c.-11+13224A>C (n.-11+13224A>C)
c.133A>C (p.Lys45Gln)
c.427A>C (p.Lys143Gln)
7g.50529294T=CA1706649202DDC,FIGNL1c.484A= (p.Lys162=)
c.250A= (p.Lys84=)
c.213-1014A=
c.435+8566A= (n.435+8566A=)
c.370A= (p.Lys124=)
n.283A=
c.-11+13224A= (n.-11+13224A=)
c.133A= (p.Lys45=)
c.427A= (p.Lys143=)
7g.50529295G>ACA454937544DDC,FIGNL1c.483C>T (p.Thr161=)
c.249C>T (p.Thr83=)
c.213-1015C>T
c.435+8565C>T (n.435+8565C>T)
c.369C>T (p.Thr123=)
n.282C>T
c.-11+13223C>T (n.-11+13223C>T)
c.132C>T (p.Thr44=)
c.426C>T (p.Thr142=)
7g.50529295G>CCA454937545DDC,FIGNL1c.483C>G (p.Thr161=)
c.249C>G (p.Thr83=)
c.213-1015C>G
c.435+8565C>G (n.435+8565C>G)
c.369C>G (p.Thr123=)
n.282C>G
c.-11+13223C>G (n.-11+13223C>G)
c.132C>G (p.Thr44=)
c.426C>G (p.Thr142=)
7g.50529295G>TCA454937546DDC,FIGNL1c.483C>A (p.Thr161=)
c.249C>A (p.Thr83=)
c.213-1015C>A
c.435+8565C>A (n.435+8565C>A)
c.369C>A (p.Thr123=)
n.282C>A
c.-11+13223C>A (n.-11+13223C>A)
c.132C>A (p.Thr44=)
c.426C>A (p.Thr142=)
 ClinVar dbSNP
7g.50529296G>ACA158232915DDC,FIGNL1c.482C>T (p.Thr161Ile)
c.248C>T (p.Thr83Ile)
c.213-1016C>T
c.435+8564C>T (n.435+8564C>T)
c.368C>T (p.Thr123Ile)
n.281C>T
c.-11+13222C>T (n.-11+13222C>T)
c.131C>T (p.Thr44Ile)
c.425C>T (p.Thr142Ile)
 dbSNP gnomAD v2 gnomAD v4
7g.50529296G>CCA367526779DDC,FIGNL1c.482C>G (p.Thr161Ser)
c.248C>G (p.Thr83Ser)
c.213-1016C>G
c.435+8564C>G (n.435+8564C>G)
c.368C>G (p.Thr123Ser)
n.281C>G
c.-11+13222C>G (n.-11+13222C>G)
c.131C>G (p.Thr44Ser)
c.425C>G (p.Thr142Ser)
7g.50529296G=CA1706649204DDC,FIGNL1c.482C= (p.Thr161=)
c.248C= (p.Thr83=)
c.213-1016C=
c.435+8564C= (n.435+8564C=)
c.368C= (p.Thr123=)
n.281C=
c.-11+13222C= (n.-11+13222C=)
c.131C= (p.Thr44=)
c.425C= (p.Thr142=)
7g.50529296G>TCA367526780DDC,FIGNL1c.482C>A (p.Thr161Asn)
c.248C>A (p.Thr83Asn)
c.213-1016C>A
c.435+8564C>A (n.435+8564C>A)
c.368C>A (p.Thr123Asn)
n.281C>A
c.-11+13222C>A (n.-11+13222C>A)
c.131C>A (p.Thr44Asn)
c.425C>A (p.Thr142Asn)
7g.50529297T>ACA367526781DDC,FIGNL1c.481A>T (p.Thr161Ser)
c.247A>T (p.Thr83Ser)
c.213-1017A>T
c.435+8563A>T (n.435+8563A>T)
c.367A>T (p.Thr123Ser)
n.280A>T
c.-11+13221A>T (n.-11+13221A>T)
c.130A>T (p.Thr44Ser)
c.424A>T (p.Thr142Ser)
7g.50529297T>CCA367526783DDC,FIGNL1c.481A>G (p.Thr161Ala)
c.247A>G (p.Thr83Ala)
c.213-1017A>G
c.435+8563A>G (n.435+8563A>G)
c.367A>G (p.Thr123Ala)
n.280A>G
c.-11+13221A>G (n.-11+13221A>G)
c.130A>G (p.Thr44Ala)
c.424A>G (p.Thr142Ala)
7g.50529297T>GCA367526782DDC,FIGNL1c.481A>C (p.Thr161Pro)
c.247A>C (p.Thr83Pro)
c.213-1017A>C
c.435+8563A>C (n.435+8563A>C)
c.367A>C (p.Thr123Pro)
n.280A>C
c.-11+13221A>C (n.-11+13221A>C)
c.130A>C (p.Thr44Pro)
c.424A>C (p.Thr142Pro)
7g.50529297_50529298delinsTCCA1706649206DDC,FIGNL1c.480_481delinsGA (p.Arg160=)
c.246_247delinsGA (p.Arg82=)
c.213-1018_213-1017delinsGA
c.435+8562_435+8563delinsGA (n.435+8562_435+8563delinsGA)
c.366_367delinsGA (p.Arg122=)
n.279_280delinsGA
c.-11+13220_-11+13221delinsGA (n.-11+13220_-11+13221delinsGA)
c.129_130delinsGA (p.Arg43=)
c.423_424delinsGA (p.Arg141=)
7g.50529298C>ACA454937549DDC,FIGNL1c.480G>T (p.Arg160=)
c.246G>T (p.Arg82=)
c.213-1018G>T
c.435+8562G>T (n.435+8562G>T)
c.366G>T (p.Arg122=)
n.279G>T
c.-11+13220G>T (n.-11+13220G>T)
c.129G>T (p.Arg43=)
c.423G>T (p.Arg141=)
 dbSNP gnomAD v4
7g.50529298C=CA1706649208DDC,FIGNL1c.480G= (p.Arg160=)
c.246G= (p.Arg82=)
c.213-1018G=
c.435+8562G= (n.435+8562G=)
c.366G= (p.Arg122=)
n.279G=
c.-11+13220G= (n.-11+13220G=)
c.129G= (p.Arg43=)
c.423G= (p.Arg141=)
7g.50529298C>GCA454937548DDC,FIGNL1c.480G>C (p.Arg160=)
c.246G>C (p.Arg82=)
c.213-1018G>C
c.435+8562G>C (n.435+8562G>C)
c.366G>C (p.Arg122=)
n.279G>C
c.-11+13220G>C (n.-11+13220G>C)
c.129G>C (p.Arg43=)
c.423G>C (p.Arg141=)
7g.50529298C>TCA454937547DDC,FIGNL1c.480G>A (p.Arg160=)
c.246G>A (p.Arg82=)
c.213-1018G>A
c.435+8562G>A (n.435+8562G>A)
c.366G>A (p.Arg122=)
n.279G>A
c.-11+13220G>A (n.-11+13220G>A)
c.129G>A (p.Arg43=)
c.423G>A (p.Arg141=)
 COSMIC COSMIC
7g.50529299delCA1139771368DDC,FIGNL1c.480del (p.Thr161ProfsTer3)
c.246del (p.Thr83ProfsTer3)
c.213-1018del
c.435+8562del (n.435+8562del)
c.366del (p.Thr123ProfsTer3)
n.279del
c.-11+13220del (n.-11+13220del)
c.129del (p.Thr44ProfsTer3)
c.423del (p.Thr142ProfsTer3)
 ClinVar dbSNP
7g.50529299C>ACA367526784DDC,FIGNL1c.479G>T (p.Arg160Leu)
c.245G>T (p.Arg82Leu)
c.213-1019G>T
c.435+8561G>T (n.435+8561G>T)
c.365G>T (p.Arg122Leu)
n.278G>T
c.-11+13219G>T (n.-11+13219G>T)
c.128G>T (p.Arg43Leu)
c.422G>T (p.Arg141Leu)
7g.50529299C=CA1706649210DDC,FIGNL1c.479G= (p.Arg160=)
c.245G= (p.Arg82=)
c.213-1019G=
c.435+8561G= (n.435+8561G=)
c.365G= (p.Arg122=)
n.278G=
c.-11+13219G= (n.-11+13219G=)
c.128G= (p.Arg43=)
c.422G= (p.Arg141=)
7g.50529299C>GCA367526786DDC,FIGNL1c.479G>C (p.Arg160Pro)
c.245G>C (p.Arg82Pro)
c.213-1019G>C
c.435+8561G>C (n.435+8561G>C)
c.365G>C (p.Arg122Pro)
n.278G>C
c.-11+13219G>C (n.-11+13219G>C)
c.128G>C (p.Arg43Pro)
c.422G>C (p.Arg141Pro)
 gnomAD v4
7g.50529299C>TCA367526785DDC,FIGNL1c.479G>A (p.Arg160Gln)
c.245G>A (p.Arg82Gln)
c.213-1019G>A
c.435+8561G>A (n.435+8561G>A)
c.365G>A (p.Arg122Gln)
n.278G>A
c.-11+13219G>A (n.-11+13219G>A)
c.128G>A (p.Arg43Gln)
c.422G>A (p.Arg141Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.50529300G>ACA10626215DDC,FIGNL1c.478C>T (p.Arg160Trp)
c.244C>T (p.Arg82Trp)
c.213-1020C>T
c.435+8560C>T (n.435+8560C>T)
c.364C>T (p.Arg122Trp)
n.277C>T
c.-11+13218C>T (n.-11+13218C>T)
c.127C>T (p.Arg43Trp)
c.421C>T (p.Arg141Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.50529300G>CCA367526787DDC,FIGNL1c.478C>G (p.Arg160Gly)
c.244C>G (p.Arg82Gly)
c.213-1020C>G
c.435+8560C>G (n.435+8560C>G)
c.364C>G (p.Arg122Gly)
n.277C>G
c.-11+13218C>G (n.-11+13218C>G)
c.127C>G (p.Arg43Gly)
c.421C>G (p.Arg141Gly)
 gnomAD v4
7g.50529300G=CA1706649213DDC,FIGNL1c.478C= (p.Arg160=)
c.244C= (p.Arg82=)
c.213-1020C=
c.435+8560C= (n.435+8560C=)
c.364C= (p.Arg122=)
n.277C=
c.-11+13218C= (n.-11+13218C=)
c.127C= (p.Arg43=)
c.421C= (p.Arg141=)
7g.50529300G>TCA454937550DDC,FIGNL1c.478C>A (p.Arg160=)
c.244C>A (p.Arg82=)
c.213-1020C>A
c.435+8560C>A (n.435+8560C>A)
c.364C>A (p.Arg122=)
n.277C>A
c.-11+13218C>A (n.-11+13218C>A)
c.127C>A (p.Arg43=)
c.421C>A (p.Arg141=)
 dbSNP
7g.50529301A>CCA454937551DDC,FIGNL1c.477T>G (p.Ala159=)
c.243T>G (p.Ala81=)
c.213-1021T>G
c.435+8559T>G (n.435+8559T>G)
c.363T>G (p.Ala121=)
n.276T>G
c.-11+13217T>G (n.-11+13217T>G)
c.126T>G (p.Ala42=)
c.420T>G (p.Ala140=)
7g.50529301A>GCA454937553DDC,FIGNL1c.477T>C (p.Ala159=)
c.243T>C (p.Ala81=)
c.213-1021T>C
c.435+8559T>C (n.435+8559T>C)
c.363T>C (p.Ala121=)
n.276T>C
c.-11+13217T>C (n.-11+13217T>C)
c.126T>C (p.Ala42=)
c.420T>C (p.Ala140=)
 gnomAD v4
7g.50529301A>TCA454937552DDC,FIGNL1c.477T>A (p.Ala159=)
c.243T>A (p.Ala81=)
c.213-1021T>A
c.435+8559T>A (n.435+8559T>A)
c.363T>A (p.Ala121=)
n.276T>A
c.-11+13217T>A (n.-11+13217T>A)
c.126T>A (p.Ala42=)
c.420T>A (p.Ala140=)
7g.50529302G>ACA4262355DDC,FIGNL1c.476C>T (p.Ala159Val)
c.242C>T (p.Ala81Val)
c.213-1022C>T
c.435+8558C>T (n.435+8558C>T)
c.362C>T (p.Ala121Val)
n.275C>T
c.-11+13216C>T (n.-11+13216C>T)
c.125C>T (p.Ala42Val)
c.419C>T (p.Ala140Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529302G>CCA367526788DDC,FIGNL1c.476C>G (p.Ala159Gly)
c.242C>G (p.Ala81Gly)
c.213-1022C>G
c.435+8558C>G (n.435+8558C>G)
c.362C>G (p.Ala121Gly)
n.275C>G
c.-11+13216C>G (n.-11+13216C>G)
c.125C>G (p.Ala42Gly)
c.419C>G (p.Ala140Gly)
 gnomAD v4
7g.50529302G=CA1706649217DDC,FIGNL1c.476C= (p.Ala159=)
c.242C= (p.Ala81=)
c.213-1022C=
c.435+8558C= (n.435+8558C=)
c.362C= (p.Ala121=)
n.275C=
c.-11+13216C= (n.-11+13216C=)
c.125C= (p.Ala42=)
c.419C= (p.Ala140=)
7g.50529302G>TCA367526789DDC,FIGNL1c.476C>A (p.Ala159Asp)
c.242C>A (p.Ala81Asp)
c.213-1022C>A
c.435+8558C>A (n.435+8558C>A)
c.362C>A (p.Ala121Asp)
n.275C>A
c.-11+13216C>A (n.-11+13216C>A)
c.125C>A (p.Ala42Asp)
c.419C>A (p.Ala140Asp)
7g.50529303C>ACA4262356DDC,FIGNL1c.475G>T (p.Ala159Ser)
c.241G>T (p.Ala81Ser)
c.213-1023G>T
c.435+8557G>T (n.435+8557G>T)
c.361G>T (p.Ala121Ser)
n.274G>T
c.-11+13215G>T (n.-11+13215G>T)
c.124G>T (p.Ala42Ser)
c.418G>T (p.Ala140Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.50529303C=CA1706649220DDC,FIGNL1c.475G= (p.Ala159=)
c.241G= (p.Ala81=)
c.213-1023G=
c.435+8557G= (n.435+8557G=)
c.361G= (p.Ala121=)
n.274G=
c.-11+13215G= (n.-11+13215G=)
c.124G= (p.Ala42=)
c.418G= (p.Ala140=)
7g.50529303C>GCA367526790DDC,FIGNL1c.475G>C (p.Ala159Pro)
c.241G>C (p.Ala81Pro)
c.213-1023G>C
c.435+8557G>C (n.435+8557G>C)
c.361G>C (p.Ala121Pro)
n.274G>C
c.-11+13215G>C (n.-11+13215G>C)
c.124G>C (p.Ala42Pro)
c.418G>C (p.Ala140Pro)
7g.50529303C>TCA367526791DDC,FIGNL1c.475G>A (p.Ala159Thr)
c.241G>A (p.Ala81Thr)
c.213-1023G>A
c.435+8557G>A (n.435+8557G>A)
c.361G>A (p.Ala121Thr)
n.274G>A
c.-11+13215G>A (n.-11+13215G>A)
c.124G>A (p.Ala42Thr)
c.418G>A (p.Ala140Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.50529304G>ACA4262357DDC,FIGNL1c.474C>T (p.Ala158=)
c.240C>T (p.Ala80=)
c.213-1024C>T
c.435+8556C>T (n.435+8556C>T)
c.360C>T (p.Ala120=)
n.273C>T
c.-11+13214C>T (n.-11+13214C>T)
c.123C>T (p.Ala41=)
c.417C>T (p.Ala139=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529304G>CCA454937555DDC,FIGNL1c.474C>G (p.Ala158=)
c.240C>G (p.Ala80=)
c.213-1024C>G
c.435+8556C>G (n.435+8556C>G)
c.360C>G (p.Ala120=)
n.273C>G
c.-11+13214C>G (n.-11+13214C>G)
c.123C>G (p.Ala41=)
c.417C>G (p.Ala139=)
 gnomAD v4
7g.50529304G=CA1706649222DDC,FIGNL1c.474C= (p.Ala158=)
c.240C= (p.Ala80=)
c.213-1024C=
c.435+8556C= (n.435+8556C=)
c.360C= (p.Ala120=)
n.273C=
c.-11+13214C= (n.-11+13214C=)
c.123C= (p.Ala41=)
c.417C= (p.Ala139=)
7g.50529304G>TCA454937554DDC,FIGNL1c.474C>A (p.Ala158=)
c.240C>A (p.Ala80=)
c.213-1024C>A
c.435+8556C>A (n.435+8556C>A)
c.360C>A (p.Ala120=)
n.273C>A
c.-11+13214C>A (n.-11+13214C>A)
c.123C>A (p.Ala41=)
c.417C>A (p.Ala139=)
7g.50529305G>ACA367526792DDC,FIGNL1c.473C>T (p.Ala158Val)
c.239C>T (p.Ala80Val)
c.213-1025C>T
c.435+8555C>T (n.435+8555C>T)
c.359C>T (p.Ala120Val)
n.272C>T
c.-11+13213C>T (n.-11+13213C>T)
c.122C>T (p.Ala41Val)
c.416C>T (p.Ala139Val)
 gnomAD v4
7g.50529305G>CCA367526793DDC,FIGNL1c.473C>G (p.Ala158Gly)
c.239C>G (p.Ala80Gly)
c.213-1025C>G
c.435+8555C>G (n.435+8555C>G)
c.359C>G (p.Ala120Gly)
n.272C>G
c.-11+13213C>G (n.-11+13213C>G)
c.122C>G (p.Ala41Gly)
c.416C>G (p.Ala139Gly)
7g.50529305G>TCA367526794DDC,FIGNL1c.473C>A (p.Ala158Asp)
c.239C>A (p.Ala80Asp)
c.213-1025C>A
c.435+8555C>A (n.435+8555C>A)
c.359C>A (p.Ala120Asp)
n.272C>A
c.-11+13213C>A (n.-11+13213C>A)
c.122C>A (p.Ala41Asp)
c.416C>A (p.Ala139Asp)
7g.50529306C>ACA367526797DDC,FIGNL1c.472G>T (p.Ala158Ser)
c.238G>T (p.Ala80Ser)
c.213-1026G>T
c.435+8554G>T (n.435+8554G>T)
c.358G>T (p.Ala120Ser)
n.271G>T
c.-11+13212G>T (n.-11+13212G>T)
c.121G>T (p.Ala41Ser)
c.415G>T (p.Ala139Ser)
 gnomAD v4
7g.50529306C>GCA367526796DDC,FIGNL1c.472G>C (p.Ala158Pro)
c.238G>C (p.Ala80Pro)
c.213-1026G>C
c.435+8554G>C (n.435+8554G>C)
c.358G>C (p.Ala120Pro)
n.271G>C
c.-11+13212G>C (n.-11+13212G>C)
c.121G>C (p.Ala41Pro)
c.415G>C (p.Ala139Pro)
7g.50529306C>TCA367526795DDC,FIGNL1c.472G>A (p.Ala158Thr)
c.238G>A (p.Ala80Thr)
c.213-1026G>A
c.435+8554G>A (n.435+8554G>A)
c.358G>A (p.Ala120Thr)
n.271G>A
c.-11+13212G>A (n.-11+13212G>A)
c.121G>A (p.Ala41Thr)
c.415G>A (p.Ala139Thr)
 gnomAD v4
7g.50529307C>ACA454937556DDC,FIGNL1c.471G>T (p.Leu157=)
c.237G>T (p.Leu79=)
c.213-1027G>T
c.435+8553G>T (n.435+8553G>T)
c.357G>T (p.Leu119=)
n.270G>T
c.-11+13211G>T (n.-11+13211G>T)
c.120G>T (p.Leu40=)
c.414G>T (p.Leu138=)
 gnomAD v4
7g.50529307C>GCA454937558DDC,FIGNL1c.471G>C (p.Leu157=)
c.237G>C (p.Leu79=)
c.213-1027G>C
c.435+8553G>C (n.435+8553G>C)
c.357G>C (p.Leu119=)
n.270G>C
c.-11+13211G>C (n.-11+13211G>C)
c.120G>C (p.Leu40=)
c.414G>C (p.Leu138=)
7g.50529307C>TCA454937557DDC,FIGNL1c.471G>A (p.Leu157=)
c.237G>A (p.Leu79=)
c.213-1027G>A
c.435+8553G>A (n.435+8553G>A)
c.357G>A (p.Leu119=)
n.270G>A
c.-11+13211G>A (n.-11+13211G>A)
c.120G>A (p.Leu40=)
c.414G>A (p.Leu138=)
7g.50529308A>CCA367526798DDC,FIGNL1c.470T>G (p.Leu157Arg)
c.236T>G (p.Leu79Arg)
c.213-1028T>G
c.435+8552T>G (n.435+8552T>G)
c.356T>G (p.Leu119Arg)
n.269T>G
c.-11+13210T>G (n.-11+13210T>G)
c.119T>G (p.Leu40Arg)
c.413T>G (p.Leu138Arg)
7g.50529308A>GCA367526799DDC,FIGNL1c.470T>C (p.Leu157Pro)
c.236T>C (p.Leu79Pro)
c.213-1028T>C
c.435+8552T>C (n.435+8552T>C)
c.356T>C (p.Leu119Pro)
n.269T>C
c.-11+13210T>C (n.-11+13210T>C)
c.119T>C (p.Leu40Pro)
c.413T>C (p.Leu138Pro)
7g.50529308A>TCA367526800DDC,FIGNL1c.470T>A (p.Leu157Gln)
c.236T>A (p.Leu79Gln)
c.213-1028T>A
c.435+8552T>A (n.435+8552T>A)
c.356T>A (p.Leu119Gln)
n.269T>A
c.-11+13210T>A (n.-11+13210T>A)
c.119T>A (p.Leu40Gln)
c.413T>A (p.Leu138Gln)
7g.50529309G>ACA158232916DDC,FIGNL1c.469C>T (p.Leu157=)
c.235C>T (p.Leu79=)
c.213-1029C>T
c.435+8551C>T (n.435+8551C>T)
c.355C>T (p.Leu119=)
n.268C>T
c.-11+13209C>T (n.-11+13209C>T)
c.118C>T (p.Leu40=)
c.412C>T (p.Leu138=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.50529309G>CCA367526801DDC,FIGNL1c.469C>G (p.Leu157Val)
c.235C>G (p.Leu79Val)
c.213-1029C>G
c.435+8551C>G (n.435+8551C>G)
c.355C>G (p.Leu119Val)
n.268C>G
c.-11+13209C>G (n.-11+13209C>G)
c.118C>G (p.Leu40Val)
c.412C>G (p.Leu138Val)
7g.50529309G=CA1706649225DDC,FIGNL1c.469C= (p.Leu157=)
c.235C= (p.Leu79=)
c.213-1029C=
c.435+8551C= (n.435+8551C=)
c.355C= (p.Leu119=)
n.268C=
c.-11+13209C= (n.-11+13209C=)
c.118C= (p.Leu40=)
c.412C= (p.Leu138=)
7g.50529309G>TCA367526802DDC,FIGNL1c.469C>A (p.Leu157Met)
c.235C>A (p.Leu79Met)
c.213-1029C>A
c.435+8551C>A (n.435+8551C>A)
c.355C>A (p.Leu119Met)
n.268C>A
c.-11+13209C>A (n.-11+13209C>A)
c.118C>A (p.Leu40Met)
c.412C>A (p.Leu138Met)
 gnomAD v4
7g.50529310C>ACA4262358DDC,FIGNL1c.468G>T (p.Leu156=)
c.234G>T (p.Leu78=)
c.213-1030G>T
c.435+8550G>T (n.435+8550G>T)
c.354G>T (p.Leu118=)
n.267G>T
c.-11+13208G>T (n.-11+13208G>T)
c.117G>T (p.Leu39=)
c.411G>T (p.Leu137=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.50529310C=CA1706649227DDC,FIGNL1c.468G= (p.Leu156=)
c.234G= (p.Leu78=)
c.213-1030G=
c.435+8550G= (n.435+8550G=)
c.354G= (p.Leu118=)
n.267G=
c.-11+13208G= (n.-11+13208G=)
c.117G= (p.Leu39=)
c.411G= (p.Leu137=)
7g.50529310C>GCA454937559DDC,FIGNL1c.468G>C (p.Leu156=)
c.234G>C (p.Leu78=)
c.213-1030G>C
c.435+8550G>C (n.435+8550G>C)
c.354G>C (p.Leu118=)
n.267G>C
c.-11+13208G>C (n.-11+13208G>C)
c.117G>C (p.Leu39=)
c.411G>C (p.Leu137=)
7g.50529310C>TCA454937560DDC,FIGNL1c.468G>A (p.Leu156=)
c.234G>A (p.Leu78=)
c.213-1030G>A
c.435+8550G>A (n.435+8550G>A)
c.354G>A (p.Leu118=)
n.267G>A
c.-11+13208G>A (n.-11+13208G>A)
c.117G>A (p.Leu39=)
c.411G>A (p.Leu137=)
 dbSNP gnomAD v4
7g.50529311A>CCA367526803DDC,FIGNL1c.467T>G (p.Leu156Arg)
c.233T>G (p.Leu78Arg)
c.213-1031T>G
c.435+8549T>G (n.435+8549T>G)
c.353T>G (p.Leu118Arg)
n.266T>G
c.-11+13207T>G (n.-11+13207T>G)
c.116T>G (p.Leu39Arg)
c.410T>G (p.Leu137Arg)
7g.50529311A>GCA367526804DDC,FIGNL1c.467T>C (p.Leu156Pro)
c.233T>C (p.Leu78Pro)
c.213-1031T>C
c.435+8549T>C (n.435+8549T>C)
c.353T>C (p.Leu118Pro)
n.266T>C
c.-11+13207T>C (n.-11+13207T>C)
c.116T>C (p.Leu39Pro)
c.410T>C (p.Leu137Pro)
7g.50529311A>TCA367526805DDC,FIGNL1c.467T>A (p.Leu156Gln)
c.233T>A (p.Leu78Gln)
c.213-1031T>A
c.435+8549T>A (n.435+8549T>A)
c.353T>A (p.Leu118Gln)
n.266T>A
c.-11+13207T>A (n.-11+13207T>A)
c.116T>A (p.Leu39Gln)
c.410T>A (p.Leu137Gln)
7g.50529311_50529312delinsAGCA1706649229DDC,FIGNL1c.466_467delinsCT (p.Leu156=)
c.232_233delinsCT (p.Leu78=)
c.213-1032_213-1031delinsCT
c.435+8548_435+8549delinsCT (n.435+8548_435+8549delinsCT)
c.352_353delinsCT (p.Leu118=)
n.265_266delinsCT
c.-11+13206_-11+13207delinsCT (n.-11+13206_-11+13207delinsCT)
c.115_116delinsCT (p.Leu39=)
c.409_410delinsCT (p.Leu137=)
7g.50529312G>ACA454937561DDC,FIGNL1c.466C>T (p.Leu156=)
c.232C>T (p.Leu78=)
c.213-1032C>T
c.435+8548C>T (n.435+8548C>T)
c.352C>T (p.Leu118=)
n.265C>T
c.-11+13206C>T (n.-11+13206C>T)
c.115C>T (p.Leu39=)
c.409C>T (p.Leu137=)
7g.50529312G>CCA367526806DDC,FIGNL1c.466C>G (p.Leu156Val)
c.232C>G (p.Leu78Val)
c.213-1032C>G
c.435+8548C>G (n.435+8548C>G)
c.352C>G (p.Leu118Val)
n.265C>G
c.-11+13206C>G (n.-11+13206C>G)
c.115C>G (p.Leu39Val)
c.409C>G (p.Leu137Val)
7g.50529312G>TCA367526807DDC,FIGNL1c.466C>A (p.Leu156Met)
c.232C>A (p.Leu78Met)
c.213-1032C>A
c.435+8548C>A (n.435+8548C>A)
c.352C>A (p.Leu118Met)
n.265C>A
c.-11+13206C>A (n.-11+13206C>A)
c.115C>A (p.Leu39Met)
c.409C>A (p.Leu137Met)
7g.50529314delCA4262359DDC,FIGNL1c.466del (p.Leu156CysfsTer8)
c.232del (p.Leu78CysfsTer8)
c.213-1032del
c.435+8548del (n.435+8548del)
c.352del (p.Leu118CysfsTer8)
n.265del
c.-11+13206del (n.-11+13206del)
c.115del (p.Leu39CysfsTer8)
c.409del (p.Leu137CysfsTer8)
 dbSNP ExAC gnomAD v2
7g.50529313G>ACA454937564DDC,FIGNL1c.465C>T (p.Ala155=)
c.231C>T (p.Ala77=)
c.213-1033C>T
c.435+8547C>T (n.435+8547C>T)
c.351C>T (p.Ala117=)
n.264C>T
c.-11+13205C>T (n.-11+13205C>T)
c.114C>T (p.Ala38=)
c.408C>T (p.Ala136=)
7g.50529313G>CCA454937562DDC,FIGNL1c.465C>G (p.Ala155=)
c.231C>G (p.Ala77=)
c.213-1033C>G
c.435+8547C>G (n.435+8547C>G)
c.351C>G (p.Ala117=)
n.264C>G
c.-11+13205C>G (n.-11+13205C>G)
c.114C>G (p.Ala38=)
c.408C>G (p.Ala136=)
 gnomAD v4
7g.50529313G>TCA454937563DDC,FIGNL1c.465C>A (p.Ala155=)
c.231C>A (p.Ala77=)
c.213-1033C>A
c.435+8547C>A (n.435+8547C>A)
c.351C>A (p.Ala117=)
n.264C>A
c.-11+13205C>A (n.-11+13205C>A)
c.114C>A (p.Ala38=)
c.408C>A (p.Ala136=)
7g.50529314G>ACA367526809DDC,FIGNL1c.464C>T (p.Ala155Val)
c.230C>T (p.Ala77Val)
c.213-1034C>T
c.435+8546C>T (n.435+8546C>T)
c.350C>T (p.Ala117Val)
n.263C>T
c.-11+13204C>T (n.-11+13204C>T)
c.113C>T (p.Ala38Val)
c.407C>T (p.Ala136Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.50529314G>CCA367526810DDC,FIGNL1c.464C>G (p.Ala155Gly)
c.230C>G (p.Ala77Gly)
c.213-1034C>G
c.435+8546C>G (n.435+8546C>G)
c.350C>G (p.Ala117Gly)
n.263C>G
c.-11+13204C>G (n.-11+13204C>G)
c.113C>G (p.Ala38Gly)
c.407C>G (p.Ala136Gly)
7g.50529314G=CA1706649231DDC,FIGNL1c.464C= (p.Ala155=)
c.230C= (p.Ala77=)
c.213-1034C=
c.435+8546C= (n.435+8546C=)
c.350C= (p.Ala117=)
n.263C=
c.-11+13204C= (n.-11+13204C=)
c.113C= (p.Ala38=)
c.407C= (p.Ala136=)
7g.50529314G>TCA367526808DDC,FIGNL1c.464C>A (p.Ala155Asp)
c.230C>A (p.Ala77Asp)
c.213-1034C>A
c.435+8546C>A (n.435+8546C>A)
c.350C>A (p.Ala117Asp)
n.263C>A
c.-11+13204C>A (n.-11+13204C>A)
c.113C>A (p.Ala38Asp)
c.407C>A (p.Ala136Asp)
7g.50529315C>ACA4262360DDC,FIGNL1c.463G>T (p.Ala155Ser)
c.229G>T (p.Ala77Ser)
c.213-1035G>T
c.435+8545G>T (n.435+8545G>T)
c.349G>T (p.Ala117Ser)
n.262G>T
c.-11+13203G>T (n.-11+13203G>T)
c.112G>T (p.Ala38Ser)
c.406G>T (p.Ala136Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50529315C=CA1706649233DDC,FIGNL1c.463G= (p.Ala155=)
c.229G= (p.Ala77=)
c.213-1035G=
c.435+8545G= (n.435+8545G=)
c.349G= (p.Ala117=)
n.262G=
c.-11+13203G= (n.-11+13203G=)
c.112G= (p.Ala38=)
c.406G= (p.Ala136=)
7g.50529315C>GCA367526811DDC,FIGNL1c.463G>C (p.Ala155Pro)
c.229G>C (p.Ala77Pro)
c.213-1035G>C
c.435+8545G>C (n.435+8545G>C)
c.349G>C (p.Ala117Pro)
n.262G>C
c.-11+13203G>C (n.-11+13203G>C)
c.112G>C (p.Ala38Pro)
c.406G>C (p.Ala136Pro)
7g.50529315C>TCA367526812DDC,FIGNL1c.463G>A (p.Ala155Thr)
c.229G>A (p.Ala77Thr)
c.213-1035G>A
c.435+8545G>A (n.435+8545G>A)
c.349G>A (p.Ala117Thr)
n.262G>A
c.-11+13203G>A (n.-11+13203G>A)
c.112G>A (p.Ala38Thr)
c.406G>A (p.Ala136Thr)
 gnomAD v4
7g.50529316C>ACA454937565DDC,FIGNL1c.462G>T (p.Val154=)
c.228G>T (p.Val76=)
c.213-1036G>T
c.435+8544G>T (n.435+8544G>T)
c.348G>T (p.Val116=)
n.261G>T
c.-11+13202G>T (n.-11+13202G>T)
c.111G>T (p.Val37=)
c.405G>T (p.Val135=)
7g.50529316C>GCA454937566DDC,FIGNL1c.462G>C (p.Val154=)
c.228G>C (p.Val76=)
c.213-1036G>C
c.435+8544G>C (n.435+8544G>C)
c.348G>C (p.Val116=)
n.261G>C
c.-11+13202G>C (n.-11+13202G>C)
c.111G>C (p.Val37=)
c.405G>C (p.Val135=)
7g.50529316C>TCA454937567DDC,FIGNL1c.462G>A (p.Val154=)
c.228G>A (p.Val76=)
c.213-1036G>A
c.435+8544G>A (n.435+8544G>A)
c.348G>A (p.Val116=)
n.261G>A
c.-11+13202G>A (n.-11+13202G>A)
c.111G>A (p.Val37=)
c.405G>A (p.Val135=)
7g.50529317A>CCA367526813DDC,FIGNL1c.461T>G (p.Val154Gly)
c.227T>G (p.Val76Gly)
c.213-1037T>G
c.435+8543T>G (n.435+8543T>G)
c.347T>G (p.Val116Gly)
n.260T>G
c.-11+13201T>G (n.-11+13201T>G)
c.110T>G (p.Val37Gly)
c.404T>G (p.Val135Gly)
7g.50529317A>GCA367526814DDC,FIGNL1c.461T>C (p.Val154Ala)
c.227T>C (p.Val76Ala)
c.213-1037T>C
c.435+8543T>C (n.435+8543T>C)
c.347T>C (p.Val116Ala)
n.260T>C
c.-11+13201T>C (n.-11+13201T>C)
c.110T>C (p.Val37Ala)
c.404T>C (p.Val135Ala)
 gnomAD v4
7g.50529317A>TCA367526815DDC,FIGNL1c.461T>A (p.Val154Glu)
c.227T>A (p.Val76Glu)
c.213-1037T>A
c.435+8543T>A (n.435+8543T>A)
c.347T>A (p.Val116Glu)
n.260T>A
c.-11+13201T>A (n.-11+13201T>A)
c.110T>A (p.Val37Glu)
c.404T>A (p.Val135Glu)
7g.50529318C>ACA367526816DDC,FIGNL1c.460G>T (p.Val154Leu)
c.226G>T (p.Val76Leu)
c.213-1038G>T
c.435+8542G>T (n.435+8542G>T)
c.346G>T (p.Val116Leu)
n.259G>T
c.-11+13200G>T (n.-11+13200G>T)
c.109G>T (p.Val37Leu)
c.403G>T (p.Val135Leu)
7g.50529318C>GCA367526817DDC,FIGNL1c.460G>C (p.Val154Leu)
c.226G>C (p.Val76Leu)
c.213-1038G>C
c.435+8542G>C (n.435+8542G>C)
c.346G>C (p.Val116Leu)
n.259G>C
c.-11+13200G>C (n.-11+13200G>C)
c.109G>C (p.Val37Leu)
c.403G>C (p.Val135Leu)
7g.50529318C>TCA367526818DDC,FIGNL1c.460G>A (p.Val154Met)
c.226G>A (p.Val76Met)
c.213-1038G>A
c.435+8542G>A (n.435+8542G>A)
c.346G>A (p.Val116Met)
n.259G>A
c.-11+13200G>A (n.-11+13200G>A)
c.109G>A (p.Val37Met)
c.403G>A (p.Val135Met)
7g.50529319C>ACA454937568DDC,FIGNL1c.459G>T (p.Leu153=)
c.225G>T (p.Leu75=)
c.213-1039G>T
c.435+8541G>T (n.435+8541G>T)
c.345G>T (p.Leu115=)
n.258G>T
c.-11+13199G>T (n.-11+13199G>T)
c.108G>T (p.Leu36=)
c.402G>T (p.Leu134=)
7g.50529319C=CA1706649235DDC,FIGNL1c.459G= (p.Leu153=)
c.225G= (p.Leu75=)
c.213-1039G=
c.435+8541G= (n.435+8541G=)
c.345G= (p.Leu115=)
n.258G=
c.-11+13199G= (n.-11+13199G=)
c.108G= (p.Leu36=)
c.402G= (p.Leu134=)
7g.50529319C>GCA454937569DDC,FIGNL1c.459G>C (p.Leu153=)
c.225G>C (p.Leu75=)
c.213-1039G>C
c.435+8541G>C (n.435+8541G>C)
c.345G>C (p.Leu115=)
n.258G>C
c.-11+13199G>C (n.-11+13199G>C)
c.108G>C (p.Leu36=)
c.402G>C (p.Leu134=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.50529319C>TCA4262361DDC,FIGNL1c.459G>A (p.Leu153=)
c.225G>A (p.Leu75=)
c.213-1039G>A
c.435+8541G>A (n.435+8541G>A)
c.345G>A (p.Leu115=)
n.258G>A
c.-11+13199G>A (n.-11+13199G>A)
c.108G>A (p.Leu36=)
c.402G>A (p.Leu134=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50529320A>CCA367526819DDC,FIGNL1c.458T>G (p.Leu153Arg)
c.224T>G (p.Leu75Arg)
c.213-1040T>G
c.435+8540T>G (n.435+8540T>G)
c.344T>G (p.Leu115Arg)
n.257T>G
c.-11+13198T>G (n.-11+13198T>G)
c.107T>G (p.Leu36Arg)
c.401T>G (p.Leu134Arg)
7g.50529320A>GCA367526820DDC,FIGNL1c.458T>C (p.Leu153Pro)
c.224T>C (p.Leu75Pro)
c.213-1040T>C
c.435+8540T>C (n.435+8540T>C)
c.344T>C (p.Leu115Pro)
n.257T>C
c.-11+13198T>C (n.-11+13198T>C)
c.107T>C (p.Leu36Pro)
c.401T>C (p.Leu134Pro)
7g.50529320A>TCA367526821DDC,FIGNL1c.458T>A (p.Leu153Gln)
c.224T>A (p.Leu75Gln)
c.213-1040T>A
c.435+8540T>A (n.435+8540T>A)
c.344T>A (p.Leu115Gln)
n.257T>A
c.-11+13198T>A (n.-11+13198T>A)
c.107T>A (p.Leu36Gln)
c.401T>A (p.Leu134Gln)
7g.50529321G>ACA4262362DDC,FIGNL1c.457C>T (p.Leu153=)
c.223C>T (p.Leu75=)
c.213-1041C>T
c.435+8539C>T (n.435+8539C>T)
c.343C>T (p.Leu115=)
n.256C>T
c.-11+13197C>T (n.-11+13197C>T)
c.106C>T (p.Leu36=)
c.400C>T (p.Leu134=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529321G>CCA367526823DDC,FIGNL1c.457C>G (p.Leu153Val)
c.223C>G (p.Leu75Val)
c.213-1041C>G
c.435+8539C>G (n.435+8539C>G)
c.343C>G (p.Leu115Val)
n.256C>G
c.-11+13197C>G (n.-11+13197C>G)
c.106C>G (p.Leu36Val)
c.400C>G (p.Leu134Val)
7g.50529321G=CA1706649238DDC,FIGNL1c.457C= (p.Leu153=)
c.223C= (p.Leu75=)
c.213-1041C=
c.435+8539C= (n.435+8539C=)
c.343C= (p.Leu115=)
n.256C=
c.-11+13197C= (n.-11+13197C=)
c.106C= (p.Leu36=)
c.400C= (p.Leu134=)
7g.50529321G>TCA367526822DDC,FIGNL1c.457C>A (p.Leu153Met)
c.223C>A (p.Leu75Met)
c.213-1041C>A
c.435+8539C>A (n.435+8539C>A)
c.343C>A (p.Leu115Met)
n.256C>A
c.-11+13197C>A (n.-11+13197C>A)
c.106C>A (p.Leu36Met)
c.400C>A (p.Leu134Met)
7g.50529322G>ACA4262363DDC,FIGNL1c.456C>T (p.Thr152=)
c.222C>T (p.Thr74=)
c.213-1042C>T
c.435+8538C>T (n.435+8538C>T)
c.342C>T (p.Thr114=)
n.255C>T
c.-11+13196C>T (n.-11+13196C>T)
c.105C>T (p.Thr35=)
c.399C>T (p.Thr133=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50529322G>CCA454937571DDC,FIGNL1c.456C>G (p.Thr152=)
c.222C>G (p.Thr74=)
c.213-1042C>G
c.435+8538C>G (n.435+8538C>G)
c.342C>G (p.Thr114=)
n.255C>G
c.-11+13196C>G (n.-11+13196C>G)
c.105C>G (p.Thr35=)
c.399C>G (p.Thr133=)
7g.50529322G=CA1706649240DDC,FIGNL1c.456C= (p.Thr152=)
c.222C= (p.Thr74=)
c.213-1042C=
c.435+8538C= (n.435+8538C=)
c.342C= (p.Thr114=)
n.255C=
c.-11+13196C= (n.-11+13196C=)
c.105C= (p.Thr35=)
c.399C= (p.Thr133=)
7g.50529322G>TCA454937570DDC,FIGNL1c.456C>A (p.Thr152=)
c.222C>A (p.Thr74=)
c.213-1042C>A
c.435+8538C>A (n.435+8538C>A)
c.342C>A (p.Thr114=)
n.255C>A
c.-11+13196C>A (n.-11+13196C>A)
c.105C>A (p.Thr35=)
c.399C>A (p.Thr133=)
7g.50529323G>ACA367526824DDC,FIGNL1c.455C>T (p.Thr152Ile)
c.221C>T (p.Thr74Ile)
c.213-1043C>T
c.435+8537C>T (n.435+8537C>T)
c.341C>T (p.Thr114Ile)
n.254C>T
c.-11+13195C>T (n.-11+13195C>T)
c.104C>T (p.Thr35Ile)
c.398C>T (p.Thr133Ile)
7g.50529323G>CCA367526825DDC,FIGNL1c.455C>G (p.Thr152Ser)
c.221C>G (p.Thr74Ser)
c.213-1043C>G
c.435+8537C>G (n.435+8537C>G)
c.341C>G (p.Thr114Ser)
n.254C>G
c.-11+13195C>G (n.-11+13195C>G)
c.104C>G (p.Thr35Ser)
c.398C>G (p.Thr133Ser)
7g.50529323G=CA1706649243DDC,FIGNL1c.455C= (p.Thr152=)
c.221C= (p.Thr74=)
c.213-1043C=
c.435+8537C= (n.435+8537C=)
c.341C= (p.Thr114=)
n.254C=
c.-11+13195C= (n.-11+13195C=)
c.104C= (p.Thr35=)
c.398C= (p.Thr133=)
7g.50529323G>TCA4262364DDC,FIGNL1c.455C>A (p.Thr152Asn)
c.221C>A (p.Thr74Asn)
c.213-1043C>A
c.435+8537C>A (n.435+8537C>A)
c.341C>A (p.Thr114Asn)
n.254C>A
c.-11+13195C>A (n.-11+13195C>A)
c.104C>A (p.Thr35Asn)
c.398C>A (p.Thr133Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529324T>ACA367526826DDC,FIGNL1c.454A>T (p.Thr152Ser)
c.220A>T (p.Thr74Ser)
c.213-1044A>T
c.435+8536A>T (n.435+8536A>T)
c.340A>T (p.Thr114Ser)
n.253A>T
c.-11+13194A>T (n.-11+13194A>T)
c.103A>T (p.Thr35Ser)
c.397A>T (p.Thr133Ser)
7g.50529324T>CCA367526827DDC,FIGNL1c.454A>G (p.Thr152Ala)
c.220A>G (p.Thr74Ala)
c.213-1044A>G
c.435+8536A>G (n.435+8536A>G)
c.340A>G (p.Thr114Ala)
n.253A>G
c.-11+13194A>G (n.-11+13194A>G)
c.103A>G (p.Thr35Ala)
c.397A>G (p.Thr133Ala)
7g.50529324T>GCA367526828DDC,FIGNL1c.454A>C (p.Thr152Pro)
c.220A>C (p.Thr74Pro)
c.213-1044A>C
c.435+8536A>C (n.435+8536A>C)
c.340A>C (p.Thr114Pro)
n.253A>C
c.-11+13194A>C (n.-11+13194A>C)
c.103A>C (p.Thr35Pro)
c.397A>C (p.Thr133Pro)
 dbSNP
7g.50529324T=CA1706649245DDC,FIGNL1c.454A= (p.Thr152=)
c.220A= (p.Thr74=)
c.213-1044A=
c.435+8536A= (n.435+8536A=)
c.340A= (p.Thr114=)
n.253A=
c.-11+13194A= (n.-11+13194A=)
c.103A= (p.Thr35=)
c.397A= (p.Thr133=)
7g.50529325G>ACA454937572DDC,FIGNL1c.453C>T (p.Ala151=)
c.219C>T (p.Ala73=)
c.213-1045C>T
c.435+8535C>T (n.435+8535C>T)
c.339C>T (p.Ala113=)
n.252C>T
c.-11+13193C>T (n.-11+13193C>T)
c.102C>T (p.Ala34=)
c.396C>T (p.Ala132=)
 gnomAD v4
7g.50529325G>CCA454937573DDC,FIGNL1c.453C>G (p.Ala151=)
c.219C>G (p.Ala73=)
c.213-1045C>G
c.435+8535C>G (n.435+8535C>G)
c.339C>G (p.Ala113=)
n.252C>G
c.-11+13193C>G (n.-11+13193C>G)
c.102C>G (p.Ala34=)
c.396C>G (p.Ala132=)
7g.50529325G>TCA454937574DDC,FIGNL1c.453C>A (p.Ala151=)
c.219C>A (p.Ala73=)
c.213-1045C>A
c.435+8535C>A (n.435+8535C>A)
c.339C>A (p.Ala113=)
n.252C>A
c.-11+13193C>A (n.-11+13193C>A)
c.102C>A (p.Ala34=)
c.396C>A (p.Ala132=)
7g.50529326G>ACA367526829DDC,FIGNL1c.452C>T (p.Ala151Val)
c.218C>T (p.Ala73Val)
c.213-1046C>T
c.435+8534C>T (n.435+8534C>T)
c.338C>T (p.Ala113Val)
n.251C>T
c.-11+13192C>T (n.-11+13192C>T)
c.101C>T (p.Ala34Val)
c.395C>T (p.Ala132Val)
7g.50529326G>CCA367526830DDC,FIGNL1c.452C>G (p.Ala151Gly)
c.218C>G (p.Ala73Gly)
c.213-1046C>G
c.435+8534C>G (n.435+8534C>G)
c.338C>G (p.Ala113Gly)
n.251C>G
c.-11+13192C>G (n.-11+13192C>G)
c.101C>G (p.Ala34Gly)
c.395C>G (p.Ala132Gly)
7g.50529326G>TCA367526831DDC,FIGNL1c.452C>A (p.Ala151Asp)
c.218C>A (p.Ala73Asp)
c.213-1046C>A
c.435+8534C>A (n.435+8534C>A)
c.338C>A (p.Ala113Asp)
n.251C>A
c.-11+13192C>A (n.-11+13192C>A)
c.101C>A (p.Ala34Asp)
c.395C>A (p.Ala132Asp)
7g.50529327C>ACA367526833DDC,FIGNL1c.451G>T (p.Ala151Ser)
c.217G>T (p.Ala73Ser)
c.213-1047G>T
c.435+8533G>T (n.435+8533G>T)
c.337G>T (p.Ala113Ser)
n.250G>T
c.-11+13191G>T (n.-11+13191G>T)
c.100G>T (p.Ala34Ser)
c.394G>T (p.Ala132Ser)
7g.50529327C>GCA367526834DDC,FIGNL1c.451G>C (p.Ala151Pro)
c.217G>C (p.Ala73Pro)
c.213-1047G>C
c.435+8533G>C (n.435+8533G>C)
c.337G>C (p.Ala113Pro)
n.250G>C
c.-11+13191G>C (n.-11+13191G>C)
c.100G>C (p.Ala34Pro)
c.394G>C (p.Ala132Pro)
7g.50529327C>TCA367526832DDC,FIGNL1c.451G>A (p.Ala151Thr)
c.217G>A (p.Ala73Thr)
c.213-1047G>A
c.435+8533G>A (n.435+8533G>A)
c.337G>A (p.Ala113Thr)
n.250G>A
c.-11+13191G>A (n.-11+13191G>A)
c.100G>A (p.Ala34Thr)
c.394G>A (p.Ala132Thr)
7g.50529328T>ACA367526835DDC,FIGNL1c.450A>T (p.Glu150Asp)
c.216A>T (p.Glu72Asp)
c.213-1048A>T
c.435+8532A>T (n.435+8532A>T)
c.336A>T (p.Glu112Asp)
n.249A>T
c.-11+13190A>T (n.-11+13190A>T)
c.99A>T (p.Glu33Asp)
c.393A>T (p.Glu131Asp)
7g.50529328T>CCA454937575DDC,FIGNL1c.450A>G (p.Glu150=)
c.216A>G (p.Glu72=)
c.213-1048A>G
c.435+8532A>G (n.435+8532A>G)
c.336A>G (p.Glu112=)
n.249A>G
c.-11+13190A>G (n.-11+13190A>G)
c.99A>G (p.Glu33=)
c.393A>G (p.Glu131=)
 gnomAD v4
7g.50529328T>GCA367526836DDC,FIGNL1c.450A>C (p.Glu150Asp)
c.216A>C (p.Glu72Asp)
c.213-1048A>C
c.435+8532A>C (n.435+8532A>C)
c.336A>C (p.Glu112Asp)
n.249A>C
c.-11+13190A>C (n.-11+13190A>C)
c.99A>C (p.Glu33Asp)
c.393A>C (p.Glu131Asp)
7g.50529329T>ACA367526837DDC,FIGNL1c.449A>T (p.Glu150Val)
c.215A>T (p.Glu72Val)
c.213-1049A>T
c.435+8531A>T (n.435+8531A>T)
c.335A>T (p.Glu112Val)
n.248A>T
c.-11+13189A>T (n.-11+13189A>T)
c.98A>T (p.Glu33Val)
c.392A>T (p.Glu131Val)
7g.50529329T>CCA367526838DDC,FIGNL1c.449A>G (p.Glu150Gly)
c.215A>G (p.Glu72Gly)
c.213-1049A>G
c.435+8531A>G (n.435+8531A>G)
c.335A>G (p.Glu112Gly)
n.248A>G
c.-11+13189A>G (n.-11+13189A>G)
c.98A>G (p.Glu33Gly)
c.392A>G (p.Glu131Gly)
7g.50529329T>GCA367526839DDC,FIGNL1c.449A>C (p.Glu150Ala)
c.215A>C (p.Glu72Ala)
c.213-1049A>C
c.435+8531A>C (n.435+8531A>C)
c.335A>C (p.Glu112Ala)
n.248A>C
c.-11+13189A>C (n.-11+13189A>C)
c.98A>C (p.Glu33Ala)
c.392A>C (p.Glu131Ala)
7g.50529330C>ACA367526840DDC,FIGNL1c.448G>T (p.Glu150Ter)
c.214G>T (p.Glu72Ter)
c.213-1050G>T
c.435+8530G>T (n.435+8530G>T)
c.334G>T (p.Glu112Ter)
n.247G>T
c.-11+13188G>T (n.-11+13188G>T)
c.97G>T (p.Glu33Ter)
c.391G>T (p.Glu131Ter)
7g.50529330C=CA1706649247DDC,FIGNL1c.448G= (p.Glu150=)
c.214G= (p.Glu72=)
c.213-1050G=
c.435+8530G= (n.435+8530G=)
c.334G= (p.Glu112=)
n.247G=
c.-11+13188G= (n.-11+13188G=)
c.97G= (p.Glu33=)
c.391G= (p.Glu131=)
7g.50529330C>GCA367526841DDC,FIGNL1c.448G>C (p.Glu150Gln)
c.214G>C (p.Glu72Gln)
c.213-1050G>C
c.435+8530G>C (n.435+8530G>C)
c.334G>C (p.Glu112Gln)
n.247G>C
c.-11+13188G>C (n.-11+13188G>C)
c.97G>C (p.Glu33Gln)
c.391G>C (p.Glu131Gln)
7g.50529330C>TCA4262365DDC,FIGNL1c.448G>A (p.Glu150Lys)
c.214G>A (p.Glu72Lys)
c.213-1050G>A
c.435+8530G>A (n.435+8530G>A)
c.334G>A (p.Glu112Lys)
n.247G>A
c.-11+13188G>A (n.-11+13188G>A)
c.97G>A (p.Glu33Lys)
c.391G>A (p.Glu131Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.50529331A>CCA367526842DDC,FIGNL1c.447T>G (p.Ser149Arg)
c.213T>G (p.Ser71Arg)
c.213-1051T>G
c.435+8529T>G (n.435+8529T>G)
c.333T>G (p.Ser111Arg)
n.246T>G
c.-11+13187T>G (n.-11+13187T>G)
c.96T>G (p.Ser32Arg)
c.390T>G (p.Ser130Arg)
7g.50529331A>GCA454937576DDC,FIGNL1c.447T>C (p.Ser149=)
c.213T>C (p.Ser71=)
c.213-1051T>C
c.435+8529T>C (n.435+8529T>C)
c.333T>C (p.Ser111=)
n.246T>C
c.-11+13187T>C (n.-11+13187T>C)
c.96T>C (p.Ser32=)
c.390T>C (p.Ser130=)
7g.50529331A>TCA367526843DDC,FIGNL1c.447T>A (p.Ser149Arg)
c.213T>A (p.Ser71Arg)
c.213-1051T>A
c.435+8529T>A (n.435+8529T>A)
c.333T>A (p.Ser111Arg)
n.246T>A
c.-11+13187T>A (n.-11+13187T>A)
c.96T>A (p.Ser32Arg)
c.390T>A (p.Ser130Arg)
7g.50529332C>ACA367526844DDC,FIGNL1c.446G>T (p.Ser149Ile)
c.212G>T (p.Ser71Ile)
c.213-1052G>T
c.435+8528G>T (n.435+8528G>T)
c.332G>T (p.Ser111Ile)
n.245G>T
c.-11+13186G>T (n.-11+13186G>T)
c.95G>T (p.Ser32Ile)
c.389G>T (p.Ser130Ile)
7g.50529332C=CA1706649250DDC,FIGNL1c.446G= (p.Ser149=)
c.212G= (p.Ser71=)
c.213-1052G=
c.435+8528G= (n.435+8528G=)
c.332G= (p.Ser111=)
n.245G=
c.-11+13186G= (n.-11+13186G=)
c.95G= (p.Ser32=)
c.389G= (p.Ser130=)
7g.50529332C>GCA367526845DDC,FIGNL1c.446G>C (p.Ser149Thr)
c.212G>C (p.Ser71Thr)
c.213-1052G>C
c.435+8528G>C (n.435+8528G>C)
c.332G>C (p.Ser111Thr)
n.245G>C
c.-11+13186G>C (n.-11+13186G>C)
c.95G>C (p.Ser32Thr)
c.389G>C (p.Ser130Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.50529332C>TCA158232917DDC,FIGNL1c.446G>A (p.Ser149Asn)
c.212G>A (p.Ser71Asn)
c.213-1052G>A
c.435+8528G>A (n.435+8528G>A)
c.332G>A (p.Ser111Asn)
n.245G>A
c.-11+13186G>A (n.-11+13186G>A)
c.95G>A (p.Ser32Asn)
c.389G>A (p.Ser130Asn)
 dbSNP gnomAD v4
7g.50529333T>ACA367526848DDC,FIGNL1c.445A>T (p.Ser149Cys)
c.211A>T (p.Ser71Cys)
c.213-1053A>T
c.435+8527A>T (n.435+8527A>T)
c.331A>T (p.Ser111Cys)
n.244A>T
c.-11+13185A>T (n.-11+13185A>T)
c.94A>T (p.Ser32Cys)
c.388A>T (p.Ser130Cys)
7g.50529333T>CCA367526847DDC,FIGNL1c.445A>G (p.Ser149Gly)
c.211A>G (p.Ser71Gly)
c.213-1053A>G
c.435+8527A>G (n.435+8527A>G)
c.331A>G (p.Ser111Gly)
n.244A>G
c.-11+13185A>G (n.-11+13185A>G)
c.94A>G (p.Ser32Gly)
c.388A>G (p.Ser130Gly)
7g.50529333T>GCA367526846DDC,FIGNL1c.445A>C (p.Ser149Arg)
c.211A>C (p.Ser71Arg)
c.213-1053A>C
c.435+8527A>C (n.435+8527A>C)
c.331A>C (p.Ser111Arg)
n.244A>C
c.-11+13185A>C (n.-11+13185A>C)
c.94A>C (p.Ser32Arg)
c.388A>C (p.Ser130Arg)
7g.50529334G>ACA454937577DDC,FIGNL1c.444C>T (p.Ala148=)
c.210C>T (p.Ala70=)
c.213-1054C>T
c.435+8526C>T (n.435+8526C>T)
c.330C>T (p.Ala110=)
n.243C>T
c.-11+13184C>T (n.-11+13184C>T)
c.93C>T (p.Ala31=)
c.387C>T (p.Ala129=)
7g.50529334G>CCA454937578DDC,FIGNL1c.444C>G (p.Ala148=)
c.210C>G (p.Ala70=)
c.213-1054C>G
c.435+8526C>G (n.435+8526C>G)
c.330C>G (p.Ala110=)
n.243C>G
c.-11+13184C>G (n.-11+13184C>G)
c.93C>G (p.Ala31=)
c.387C>G (p.Ala129=)
7g.50529334G>TCA454937579DDC,FIGNL1c.444C>A (p.Ala148=)
c.210C>A (p.Ala70=)
c.213-1054C>A
c.435+8526C>A (n.435+8526C>A)
c.330C>A (p.Ala110=)
n.243C>A
c.-11+13184C>A (n.-11+13184C>A)
c.93C>A (p.Ala31=)
c.387C>A (p.Ala129=)
7g.50529335G>ACA367526849DDC,FIGNL1c.443C>T (p.Ala148Val)
c.209C>T (p.Ala70Val)
c.213-1055C>T
c.435+8525C>T (n.435+8525C>T)
c.329C>T (p.Ala110Val)
n.242C>T
c.-11+13183C>T (n.-11+13183C>T)
c.92C>T (p.Ala31Val)
c.386C>T (p.Ala129Val)
 gnomAD v4
7g.50529335G>CCA367526850DDC,FIGNL1c.443C>G (p.Ala148Gly)
c.209C>G (p.Ala70Gly)
c.213-1055C>G
c.435+8525C>G (n.435+8525C>G)
c.329C>G (p.Ala110Gly)
n.242C>G
c.-11+13183C>G (n.-11+13183C>G)
c.92C>G (p.Ala31Gly)
c.386C>G (p.Ala129Gly)
7g.50529335G>TCA367526851DDC,FIGNL1c.443C>A (p.Ala148Asp)
c.209C>A (p.Ala70Asp)
c.213-1055C>A
c.435+8525C>A (n.435+8525C>A)
c.329C>A (p.Ala110Asp)
n.242C>A
c.-11+13183C>A (n.-11+13183C>A)
c.92C>A (p.Ala31Asp)
c.386C>A (p.Ala129Asp)
7g.50529336C>ACA367526852DDC,FIGNL1c.442G>T (p.Ala148Ser)
c.208G>T (p.Ala70Ser)
c.213-1056G>T
c.435+8524G>T (n.435+8524G>T)
c.328G>T (p.Ala110Ser)
n.241G>T
c.-11+13182G>T (n.-11+13182G>T)
c.91G>T (p.Ala31Ser)
c.385G>T (p.Ala129Ser)
7g.50529336C>GCA367526853DDC,FIGNL1c.442G>C (p.Ala148Pro)
c.208G>C (p.Ala70Pro)
c.213-1056G>C
c.435+8524G>C (n.435+8524G>C)
c.328G>C (p.Ala110Pro)
n.241G>C
c.-11+13182G>C (n.-11+13182G>C)
c.91G>C (p.Ala31Pro)
c.385G>C (p.Ala129Pro)
7g.50529336C>TCA367526854DDC,FIGNL1c.442G>A (p.Ala148Thr)
c.208G>A (p.Ala70Thr)
c.213-1056G>A
c.435+8524G>A (n.435+8524G>A)
c.328G>A (p.Ala110Thr)
n.241G>A
c.-11+13182G>A (n.-11+13182G>A)
c.91G>A (p.Ala31Thr)
c.385G>A (p.Ala129Thr)
 gnomAD v4
7g.50529337A>CCA367526855DDC,FIGNL1c.441T>G (p.Ser147Arg)
c.207T>G (p.Ser69Arg)
c.213-1057T>G
c.435+8523T>G (n.435+8523T>G)
c.327T>G (p.Ser109Arg)
n.240T>G
c.-11+13181T>G (n.-11+13181T>G)
c.90T>G (p.Ser30Arg)
c.384T>G (p.Ser128Arg)
7g.50529337A>GCA454937580DDC,FIGNL1c.441T>C (p.Ser147=)
c.207T>C (p.Ser69=)
c.213-1057T>C
c.435+8523T>C (n.435+8523T>C)
c.327T>C (p.Ser109=)
n.240T>C
c.-11+13181T>C (n.-11+13181T>C)
c.90T>C (p.Ser30=)
c.384T>C (p.Ser128=)
7g.50529337A>TCA367526856DDC,FIGNL1c.441T>A (p.Ser147Arg)
c.207T>A (p.Ser69Arg)
c.213-1057T>A
c.435+8523T>A (n.435+8523T>A)
c.327T>A (p.Ser109Arg)
n.240T>A
c.-11+13181T>A (n.-11+13181T>A)
c.90T>A (p.Ser30Arg)
c.384T>A (p.Ser128Arg)
7g.50529338C>ACA367526857DDC,FIGNL1c.440G>T (p.Ser147Ile)
c.206G>T (p.Ser69Ile)
c.213-1058G>T
c.435+8522G>T (n.435+8522G>T)
c.326G>T (p.Ser109Ile)
n.239G>T
c.-11+13180G>T (n.-11+13180G>T)
c.89G>T (p.Ser30Ile)
c.383G>T (p.Ser128Ile)
 ClinVar dbSNP
7g.50529338C=CA1706649253DDC,FIGNL1c.440G= (p.Ser147=)
c.206G= (p.Ser69=)
c.213-1058G=
c.435+8522G= (n.435+8522G=)
c.326G= (p.Ser109=)
n.239G=
c.-11+13180G= (n.-11+13180G=)
c.89G= (p.Ser30=)
c.383G= (p.Ser128=)
7g.50529338C>GCA367526858DDC,FIGNL1c.440G>C (p.Ser147Thr)
c.206G>C (p.Ser69Thr)
c.213-1058G>C
c.435+8522G>C (n.435+8522G>C)
c.326G>C (p.Ser109Thr)
n.239G>C
c.-11+13180G>C (n.-11+13180G>C)
c.89G>C (p.Ser30Thr)
c.383G>C (p.Ser128Thr)
7g.50529338C>TCA367526859DDC,FIGNL1c.440G>A (p.Ser147Asn)
c.206G>A (p.Ser69Asn)
c.213-1058G>A
c.435+8522G>A (n.435+8522G>A)
c.326G>A (p.Ser109Asn)
n.239G>A
c.-11+13180G>A (n.-11+13180G>A)
c.89G>A (p.Ser30Asn)
c.383G>A (p.Ser128Asn)
 gnomAD v4
7g.50529339T>ACA367526860DDC,FIGNL1c.439A>T (p.Ser147Cys)
c.205A>T (p.Ser69Cys)
c.213-1059A>T
c.435+8521A>T (n.435+8521A>T)
c.325A>T (p.Ser109Cys)
n.238A>T
c.-11+13179A>T (n.-11+13179A>T)
c.88A>T (p.Ser30Cys)
c.382A>T (p.Ser128Cys)
7g.50529339T>CCA367526861DDC,FIGNL1c.439A>G (p.Ser147Gly)
c.205A>G (p.Ser69Gly)
c.213-1059A>G
c.435+8521A>G (n.435+8521A>G)
c.325A>G (p.Ser109Gly)
n.238A>G
c.-11+13179A>G (n.-11+13179A>G)
c.88A>G (p.Ser30Gly)
c.382A>G (p.Ser128Gly)
7g.50529339T>GCA127448DDC,FIGNL1c.439A>C (p.Ser147Arg)
c.205A>C (p.Ser69Arg)
c.213-1059A>C
c.435+8521A>C (n.435+8521A>C)
c.325A>C (p.Ser109Arg)
n.238A>C
c.-11+13179A>C (n.-11+13179A>C)
c.88A>C (p.Ser30Arg)
c.382A>C (p.Ser128Arg)
 ClinVar dbSNP
7g.50529339T=CA1706649256DDC,FIGNL1c.439A= (p.Ser147=)
c.205A= (p.Ser69=)
c.213-1059A=
c.435+8521A= (n.435+8521A=)
c.325A= (p.Ser109=)
n.238A=
c.-11+13179A= (n.-11+13179A=)
c.88A= (p.Ser30=)
c.382A= (p.Ser128=)
7g.50529340T>ACA454937581DDC,FIGNL1c.438A>T (p.Gly146=)
c.204A>T (p.Gly68=)
c.213-1060A>T
c.435+8520A>T (n.435+8520A>T)
c.324A>T (p.Gly108=)
n.237A>T
c.-11+13178A>T (n.-11+13178A>T)
c.87A>T (p.Gly29=)
c.381A>T (p.Gly127=)
7g.50529340T>CCA454937582DDC,FIGNL1c.438A>G (p.Gly146=)
c.204A>G (p.Gly68=)
c.213-1060A>G
c.435+8520A>G (n.435+8520A>G)
c.324A>G (p.Gly108=)
n.237A>G
c.-11+13178A>G (n.-11+13178A>G)
c.87A>G (p.Gly29=)
c.381A>G (p.Gly127=)
7g.50529340T>GCA454937583DDC,FIGNL1c.438A>C (p.Gly146=)
c.204A>C (p.Gly68=)
c.213-1060A>C
c.435+8520A>C (n.435+8520A>C)
c.324A>C (p.Gly108=)
n.237A>C
c.-11+13178A>C (n.-11+13178A>C)
c.87A>C (p.Gly29=)
c.381A>C (p.Gly127=)
7g.50529341C>ACA367526863DDC,FIGNL1c.437G>T (p.Gly146Val)
c.203G>T (p.Gly68Val)
c.213-1061G>T
c.435+8519G>T (n.435+8519G>T)
c.323G>T (p.Gly108Val)
n.236G>T
c.-11+13177G>T (n.-11+13177G>T)
c.86G>T (p.Gly29Val)
c.380G>T (p.Gly127Val)
7g.50529341C>GCA367526864DDC,FIGNL1c.437G>C (p.Gly146Ala)
c.203G>C (p.Gly68Ala)
c.213-1061G>C
c.435+8519G>C (n.435+8519G>C)
c.323G>C (p.Gly108Ala)
n.236G>C
c.-11+13177G>C (n.-11+13177G>C)
c.86G>C (p.Gly29Ala)
c.380G>C (p.Gly127Ala)
7g.50529341C>TCA367526862DDC,FIGNL1c.437G>A (p.Gly146Glu)
c.203G>A (p.Gly68Glu)
c.213-1061G>A
c.435+8519G>A (n.435+8519G>A)
c.323G>A (p.Gly108Glu)
n.236G>A
c.-11+13177G>A (n.-11+13177G>A)
c.86G>A (p.Gly29Glu)
c.380G>A (p.Gly127Glu)
7g.50529342_50529343delCA2578891622DDC,FIGNL1c.436_437del
c.202_203del
c.213-1062_213-1061del
c.435+8518_435+8519del (n.435+8518_435+8519del)
c.322_323del
n.235_236del
c.-11+13176_-11+13177del (n.-11+13176_-11+13177del)
c.85_86del
c.379_380del
 ClinVar gnomAD v4
7g.50529342C>ACA367526865DDC,FIGNL1c.436G>T (p.Gly146Ter)
c.202G>T (p.Gly68Ter)
c.213-1062G>T
c.435+8518G>T (n.435+8518G>T)
c.322G>T (p.Gly108Ter)
n.235G>T
c.-11+13176G>T (n.-11+13176G>T)
c.85G>T (p.Gly29Ter)
c.379G>T (p.Gly127Ter)
7g.50529342C>GCA367526867DDC,FIGNL1c.436G>C (p.Gly146Arg)
c.202G>C (p.Gly68Arg)
c.213-1062G>C
c.435+8518G>C (n.435+8518G>C)
c.322G>C (p.Gly108Arg)
n.235G>C
c.-11+13176G>C (n.-11+13176G>C)
c.85G>C (p.Gly29Arg)
c.379G>C (p.Gly127Arg)
7g.50529342C>TCA367526868DDC,FIGNL1c.436G>A (p.Gly146Arg)
c.202G>A (p.Gly68Arg)
c.213-1062G>A
c.435+8518G>A (n.435+8518G>A)
c.322G>A (p.Gly108Arg)
n.235G>A
c.-11+13176G>A (n.-11+13176G>A)
c.85G>A (p.Gly29Arg)
c.379G>A (p.Gly127Arg)
7g.50529343C>ACA367526869DDC,FIGNL1c.436-1G>T (n.436-1G>T)
c.202-1G>T (n.202-1G>T)
c.213-1063G>T
c.435+8517G>T (n.435+8517G>T)
c.322-1G>T (n.322-1G>T)
n.235-1G>T
c.-11+13175G>T (n.-11+13175G>T)
c.85-1G>T (n.85-1G>T)
c.379-1G>T (n.379-1G>T)
7g.50529343C=CA1706649259DDC,FIGNL1c.436-1G= (n.436-1G=)
c.202-1G= (n.202-1G=)
c.213-1063G=
c.435+8517G= (n.435+8517G=)
c.322-1G= (n.322-1G=)
n.235-1G=
c.-11+13175G= (n.-11+13175G=)
c.85-1G= (n.85-1G=)
c.379-1G= (n.379-1G=)
7g.50529343C>GCA367526870DDC,FIGNL1c.436-1G>C (n.436-1G>C)
c.202-1G>C (n.202-1G>C)
c.213-1063G>C
c.435+8517G>C (n.435+8517G>C)
c.322-1G>C (n.322-1G>C)
n.235-1G>C
c.-11+13175G>C (n.-11+13175G>C)
c.85-1G>C (n.85-1G>C)
c.379-1G>C (n.379-1G>C)
7g.50529343C>TCA367526871DDC,FIGNL1c.436-1G>A (n.436-1G>A)
c.202-1G>A (n.202-1G>A)
c.213-1063G>A
c.435+8517G>A (n.435+8517G>A)
c.322-1G>A (n.322-1G>A)
n.235-1G>A
c.-11+13175G>A (n.-11+13175G>A)
c.85-1G>A (n.85-1G>A)
c.379-1G>A (n.379-1G>A)
 dbSNP gnomAD v4
7g.50529344T>ACA367526872DDC,FIGNL1c.436-2A>T (n.436-2A>T)
c.202-2A>T (n.202-2A>T)
c.213-1064A>T
c.435+8516A>T (n.435+8516A>T)
c.322-2A>T (n.322-2A>T)
n.235-2A>T
c.-11+13174A>T (n.-11+13174A>T)
c.85-2A>T (n.85-2A>T)
c.379-2A>T (n.379-2A>T)
7g.50529344T>CCA367526873DDC,FIGNL1c.436-2A>G (n.436-2A>G)
c.202-2A>G (n.202-2A>G)
c.213-1064A>G
c.435+8516A>G (n.435+8516A>G)
c.322-2A>G (n.322-2A>G)
n.235-2A>G
c.-11+13174A>G (n.-11+13174A>G)
c.85-2A>G (n.85-2A>G)
c.379-2A>G (n.379-2A>G)
7g.50529344T>GCA367526874DDC,FIGNL1c.436-2A>C (n.436-2A>C)
c.202-2A>C (n.202-2A>C)
c.213-1064A>C
c.435+8516A>C (n.435+8516A>C)
c.322-2A>C (n.322-2A>C)
n.235-2A>C
c.-11+13174A>C (n.-11+13174A>C)
c.85-2A>C (n.85-2A>C)
c.379-2A>C (n.379-2A>C)
7g.50529345A=CA1706649260DDC,FIGNL1c.436-3T= (n.436-3T=)
c.202-3T= (n.202-3T=)
c.213-1065T=
c.435+8515T= (n.435+8515T=)
c.322-3T= (n.322-3T=)
n.235-3T=
c.-11+13173T= (n.-11+13173T=)
c.85-3T= (n.85-3T=)
c.379-3T= (n.379-3T=)
7g.50529345A>GCA1706649262DDC,FIGNL1c.436-3T>C (n.436-3T>C)
c.202-3T>C (n.202-3T>C)
c.213-1065T>C
c.435+8515T>C (n.435+8515T>C)
c.322-3T>C (n.322-3T>C)
n.235-3T>C
c.-11+13173T>C (n.-11+13173T>C)
c.85-3T>C (n.85-3T>C)
c.379-3T>C (n.379-3T>C)
 dbSNP gnomAD v4
7g.50529348T>CCA4262366DDC,FIGNL1c.436-6A>G (n.436-6A>G)
c.202-6A>G (n.202-6A>G)
c.213-1068A>G
c.435+8512A>G (n.435+8512A>G)
c.322-6A>G (n.322-6A>G)
n.235-6A>G
c.-11+13170A>G (n.-11+13170A>G)
c.85-6A>G (n.85-6A>G)
c.379-6A>G (n.379-6A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529348T=CA1706649264DDC,FIGNL1c.436-6A= (n.436-6A=)
c.202-6A= (n.202-6A=)
c.213-1068A=
c.435+8512A= (n.435+8512A=)
c.322-6A= (n.322-6A=)
n.235-6A=
c.-11+13170A= (n.-11+13170A=)
c.85-6A= (n.85-6A=)
c.379-6A= (n.379-6A=)

Number of alleles fetched