Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.50470046C>ACA574298286DDC,FIGNL1c.1140+27G>T (n.1140+27G>T)
c.906+27G>T (n.906+27G>T)
c.782+27G>T
c.861+27G>T (n.861+27G>T)
c.*241+27G>T (n.*241+27G>T)
n.296+27G>T
c.-10-22749G>T (n.-10-22749G>T)
c.996+27G>T (n.996+27G>T)
c.1026+27G>T (n.1026+27G>T)
c.789+27G>T (n.789+27G>T)
c.1083+27G>T (n.1083+27G>T)
 dbSNP gnomAD v2 gnomAD v4
7g.50470046C=CA1706619818DDC,FIGNL1c.1140+27G= (n.1140+27G=)
c.906+27G= (n.906+27G=)
c.782+27G=
c.861+27G= (n.861+27G=)
c.*241+27G= (n.*241+27G=)
n.296+27G=
c.-10-22749G= (n.-10-22749G=)
c.996+27G= (n.996+27G=)
c.1026+27G= (n.1026+27G=)
c.789+27G= (n.789+27G=)
c.1083+27G= (n.1083+27G=)
7g.50470046C>GCA1706619819DDC,FIGNL1c.1140+27G>C (n.1140+27G>C)
c.906+27G>C (n.906+27G>C)
c.782+27G>C
c.861+27G>C (n.861+27G>C)
c.*241+27G>C (n.*241+27G>C)
n.296+27G>C
c.-10-22749G>C (n.-10-22749G>C)
c.996+27G>C (n.996+27G>C)
c.1026+27G>C (n.1026+27G>C)
c.789+27G>C (n.789+27G>C)
c.1083+27G>C (n.1083+27G>C)
 dbSNP
7g.50470046C>TCA4262058DDC,FIGNL1c.1140+27G>A (n.1140+27G>A)
c.906+27G>A (n.906+27G>A)
c.782+27G>A
c.861+27G>A (n.861+27G>A)
c.*241+27G>A (n.*241+27G>A)
n.296+27G>A
c.-10-22749G>A (n.-10-22749G>A)
c.996+27G>A (n.996+27G>A)
c.1026+27G>A (n.1026+27G>A)
c.789+27G>A (n.789+27G>A)
c.1083+27G>A (n.1083+27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50470047G>ACA4262059DDC,FIGNL1c.1140+26C>T (n.1140+26C>T)
c.906+26C>T (n.906+26C>T)
c.782+26C>T
c.861+26C>T (n.861+26C>T)
c.*241+26C>T (n.*241+26C>T)
n.296+26C>T
c.-10-22750C>T (n.-10-22750C>T)
c.996+26C>T (n.996+26C>T)
c.1026+26C>T (n.1026+26C>T)
c.789+26C>T (n.789+26C>T)
c.1083+26C>T (n.1083+26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50470047G=CA1706619820DDC,FIGNL1c.1140+26C= (n.1140+26C=)
c.906+26C= (n.906+26C=)
c.782+26C=
c.861+26C= (n.861+26C=)
c.*241+26C= (n.*241+26C=)
n.296+26C=
c.-10-22750C= (n.-10-22750C=)
c.996+26C= (n.996+26C=)
c.1026+26C= (n.1026+26C=)
c.789+26C= (n.789+26C=)
c.1083+26C= (n.1083+26C=)
7g.50470047G>TCA4262060DDC,FIGNL1c.1140+26C>A (n.1140+26C>A)
c.906+26C>A (n.906+26C>A)
c.782+26C>A
c.861+26C>A (n.861+26C>A)
c.*241+26C>A (n.*241+26C>A)
n.296+26C>A
c.-10-22750C>A (n.-10-22750C>A)
c.996+26C>A (n.996+26C>A)
c.1026+26C>A (n.1026+26C>A)
c.789+26C>A (n.789+26C>A)
c.1083+26C>A (n.1083+26C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50470048T>CCA4262061DDC,FIGNL1c.1140+25A>G (n.1140+25A>G)
c.906+25A>G (n.906+25A>G)
c.782+25A>G
c.861+25A>G (n.861+25A>G)
c.*241+25A>G (n.*241+25A>G)
n.296+25A>G
c.-10-22751A>G (n.-10-22751A>G)
c.996+25A>G (n.996+25A>G)
c.1026+25A>G (n.1026+25A>G)
c.789+25A>G (n.789+25A>G)
c.1083+25A>G (n.1083+25A>G)
 dbSNP ExAC gnomAD v2
7g.50470048T=CA1706619821DDC,FIGNL1c.1140+25A= (n.1140+25A=)
c.906+25A= (n.906+25A=)
c.782+25A=
c.861+25A= (n.861+25A=)
c.*241+25A= (n.*241+25A=)
n.296+25A=
c.-10-22751A= (n.-10-22751A=)
c.996+25A= (n.996+25A=)
c.1026+25A= (n.1026+25A=)
c.789+25A= (n.789+25A=)
c.1083+25A= (n.1083+25A=)
7g.50470049G>TCA2578891304DDC,FIGNL1c.1140+24C>A (n.1140+24C>A)
c.906+24C>A (n.906+24C>A)
c.782+24C>A
c.861+24C>A (n.861+24C>A)
c.*241+24C>A (n.*241+24C>A)
n.296+24C>A
c.-10-22752C>A (n.-10-22752C>A)
c.996+24C>A (n.996+24C>A)
c.1026+24C>A (n.1026+24C>A)
c.789+24C>A (n.789+24C>A)
c.1083+24C>A (n.1083+24C>A)
 gnomAD v4
7g.50470050A=CA1706619822DDC,FIGNL1c.1140+23T= (n.1140+23T=)
c.906+23T= (n.906+23T=)
c.782+23T=
c.861+23T= (n.861+23T=)
c.*241+23T= (n.*241+23T=)
n.296+23T=
c.-10-22753T= (n.-10-22753T=)
c.996+23T= (n.996+23T=)
c.1026+23T= (n.1026+23T=)
c.789+23T= (n.789+23T=)
c.1083+23T= (n.1083+23T=)
7g.50470050A>CCA2578891305DDC,FIGNL1c.1140+23T>G (n.1140+23T>G)
c.906+23T>G (n.906+23T>G)
c.782+23T>G
c.861+23T>G (n.861+23T>G)
c.*241+23T>G (n.*241+23T>G)
n.296+23T>G
c.-10-22753T>G (n.-10-22753T>G)
c.996+23T>G (n.996+23T>G)
c.1026+23T>G (n.1026+23T>G)
c.789+23T>G (n.789+23T>G)
c.1083+23T>G (n.1083+23T>G)
7g.50470050A>GCA1706619823DDC,FIGNL1c.1140+23T>C (n.1140+23T>C)
c.906+23T>C (n.906+23T>C)
c.782+23T>C
c.861+23T>C (n.861+23T>C)
c.*241+23T>C (n.*241+23T>C)
n.296+23T>C
c.-10-22753T>C (n.-10-22753T>C)
c.996+23T>C (n.996+23T>C)
c.1026+23T>C (n.1026+23T>C)
c.789+23T>C (n.789+23T>C)
c.1083+23T>C (n.1083+23T>C)
 dbSNP
7g.50470050A>TCA2578891306DDC,FIGNL1c.1140+23T>A (n.1140+23T>A)
c.906+23T>A (n.906+23T>A)
c.782+23T>A
c.861+23T>A (n.861+23T>A)
c.*241+23T>A (n.*241+23T>A)
n.296+23T>A
c.-10-22753T>A (n.-10-22753T>A)
c.996+23T>A (n.996+23T>A)
c.1026+23T>A (n.1026+23T>A)
c.789+23T>A (n.789+23T>A)
c.1083+23T>A (n.1083+23T>A)
 gnomAD v4
7g.50470053A>CCA2682808961DDC,FIGNL1c.1140+20T>G (n.1140+20T>G)
c.906+20T>G (n.906+20T>G)
c.782+20T>G
c.861+20T>G (n.861+20T>G)
c.*241+20T>G (n.*241+20T>G)
n.296+20T>G
c.-10-22756T>G (n.-10-22756T>G)
c.996+20T>G (n.996+20T>G)
c.1026+20T>G (n.1026+20T>G)
c.789+20T>G (n.789+20T>G)
c.1083+20T>G (n.1083+20T>G)
 gnomAD v4
7g.50470053A>GCA2682808962DDC,FIGNL1c.1140+20T>C (n.1140+20T>C)
c.906+20T>C (n.906+20T>C)
c.782+20T>C
c.861+20T>C (n.861+20T>C)
c.*241+20T>C (n.*241+20T>C)
n.296+20T>C
c.-10-22756T>C (n.-10-22756T>C)
c.996+20T>C (n.996+20T>C)
c.1026+20T>C (n.1026+20T>C)
c.789+20T>C (n.789+20T>C)
c.1083+20T>C (n.1083+20T>C)
 gnomAD v4
7g.50470054A=CA1706619824DDC,FIGNL1c.1140+19T= (n.1140+19T=)
c.906+19T= (n.906+19T=)
c.782+19T=
c.861+19T= (n.861+19T=)
c.*241+19T= (n.*241+19T=)
n.296+19T=
c.-10-22757T= (n.-10-22757T=)
c.996+19T= (n.996+19T=)
c.1026+19T= (n.1026+19T=)
c.789+19T= (n.789+19T=)
c.1083+19T= (n.1083+19T=)
7g.50470054A>GCA574298287DDC,FIGNL1c.1140+19T>C (n.1140+19T>C)
c.906+19T>C (n.906+19T>C)
c.782+19T>C
c.861+19T>C (n.861+19T>C)
c.*241+19T>C (n.*241+19T>C)
n.296+19T>C
c.-10-22757T>C (n.-10-22757T>C)
c.996+19T>C (n.996+19T>C)
c.1026+19T>C (n.1026+19T>C)
c.789+19T>C (n.789+19T>C)
c.1083+19T>C (n.1083+19T>C)
 dbSNP gnomAD v2 gnomAD v4
7g.50470056A=CA1706619825DDC,FIGNL1c.1140+17T= (n.1140+17T=)
c.906+17T= (n.906+17T=)
c.782+17T=
c.861+17T= (n.861+17T=)
c.*241+17T= (n.*241+17T=)
n.296+17T=
c.-10-22759T= (n.-10-22759T=)
c.996+17T= (n.996+17T=)
c.1026+17T= (n.1026+17T=)
c.789+17T= (n.789+17T=)
c.1083+17T= (n.1083+17T=)
7g.50470056A>CCA158224330DDC,FIGNL1c.1140+17T>G (n.1140+17T>G)
c.906+17T>G (n.906+17T>G)
c.782+17T>G
c.861+17T>G (n.861+17T>G)
c.*241+17T>G (n.*241+17T>G)
n.296+17T>G
c.-10-22759T>G (n.-10-22759T>G)
c.996+17T>G (n.996+17T>G)
c.1026+17T>G (n.1026+17T>G)
c.789+17T>G (n.789+17T>G)
c.1083+17T>G (n.1083+17T>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.50470056A>GCA4262062DDC,FIGNL1c.1140+17T>C (n.1140+17T>C)
c.906+17T>C (n.906+17T>C)
c.782+17T>C
c.861+17T>C (n.861+17T>C)
c.*241+17T>C (n.*241+17T>C)
n.296+17T>C
c.-10-22759T>C (n.-10-22759T>C)
c.996+17T>C (n.996+17T>C)
c.1026+17T>C (n.1026+17T>C)
c.789+17T>C (n.789+17T>C)
c.1083+17T>C (n.1083+17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.50470057A>GCA2578891307DDC,FIGNL1c.1140+16T>C (n.1140+16T>C)
c.906+16T>C (n.906+16T>C)
c.782+16T>C
c.861+16T>C (n.861+16T>C)
c.*241+16T>C (n.*241+16T>C)
n.296+16T>C
c.-10-22760T>C (n.-10-22760T>C)
c.996+16T>C (n.996+16T>C)
c.1026+16T>C (n.1026+16T>C)
c.789+16T>C (n.789+16T>C)
c.1083+16T>C (n.1083+16T>C)
7g.50470063delCA2578891308DDC,FIGNL1c.1140+14del (n.1140+14del)
c.906+14del (n.906+14del)
c.782+14del
c.861+14del (n.861+14del)
c.*241+14del (n.*241+14del)
n.296+14del
c.-10-22762del (n.-10-22762del)
c.996+14del (n.996+14del)
c.1026+14del (n.1026+14del)
c.789+14del (n.789+14del)
c.1083+14del (n.1083+14del)
 gnomAD v4
7g.50470065A>GCA2682808963DDC,FIGNL1c.1140+8T>C (n.1140+8T>C)
c.906+8T>C (n.906+8T>C)
c.782+8T>C
c.861+8T>C (n.861+8T>C)
c.*241+8T>C (n.*241+8T>C)
n.296+8T>C
c.-10-22768T>C (n.-10-22768T>C)
c.996+8T>C (n.996+8T>C)
c.1026+8T>C (n.1026+8T>C)
c.789+8T>C (n.789+8T>C)
c.1083+8T>C (n.1083+8T>C)
 gnomAD v4
7g.50470066A=CA1706619826DDC,FIGNL1c.1140+7T= (n.1140+7T=)
c.906+7T= (n.906+7T=)
c.782+7T=
c.861+7T= (n.861+7T=)
c.*241+7T= (n.*241+7T=)
n.296+7T=
c.-10-22769T= (n.-10-22769T=)
c.996+7T= (n.996+7T=)
c.1026+7T= (n.1026+7T=)
c.789+7T= (n.789+7T=)
c.1083+7T= (n.1083+7T=)
7g.50470066A>TCA1706619827DDC,FIGNL1c.1140+7T>A (n.1140+7T>A)
c.906+7T>A (n.906+7T>A)
c.782+7T>A
c.861+7T>A (n.861+7T>A)
c.*241+7T>A (n.*241+7T>A)
n.296+7T>A
c.-10-22769T>A (n.-10-22769T>A)
c.996+7T>A (n.996+7T>A)
c.1026+7T>A (n.1026+7T>A)
c.789+7T>A (n.789+7T>A)
c.1083+7T>A (n.1083+7T>A)
 dbSNP
7g.50470068G>ACA1101199649DDC,FIGNL1c.1140+5C>T (n.1140+5C>T)
c.906+5C>T (n.906+5C>T)
c.782+5C>T
c.861+5C>T (n.861+5C>T)
c.*241+5C>T (n.*241+5C>T)
n.296+5C>T
c.-10-22771C>T (n.-10-22771C>T)
c.996+5C>T (n.996+5C>T)
c.1026+5C>T (n.1026+5C>T)
c.789+5C>T (n.789+5C>T)
c.1083+5C>T (n.1083+5C>T)
 dbSNP gnomAD v3 gnomAD v4
7g.50470068G=CA1706619828DDC,FIGNL1c.1140+5C= (n.1140+5C=)
c.906+5C= (n.906+5C=)
c.782+5C=
c.861+5C= (n.861+5C=)
c.*241+5C= (n.*241+5C=)
n.296+5C=
c.-10-22771C= (n.-10-22771C=)
c.996+5C= (n.996+5C=)
c.1026+5C= (n.1026+5C=)
c.789+5C= (n.789+5C=)
c.1083+5C= (n.1083+5C=)
7g.50470068G>TCA2682808964DDC,FIGNL1c.1140+5C>A (n.1140+5C>A)
c.906+5C>A (n.906+5C>A)
c.782+5C>A
c.861+5C>A (n.861+5C>A)
c.*241+5C>A (n.*241+5C>A)
n.296+5C>A
c.-10-22771C>A (n.-10-22771C>A)
c.996+5C>A (n.996+5C>A)
c.1026+5C>A (n.1026+5C>A)
c.789+5C>A (n.789+5C>A)
c.1083+5C>A (n.1083+5C>A)
 gnomAD v4
7g.50470069T>CCA574298288DDC,FIGNL1c.1140+4A>G (n.1140+4A>G)
c.906+4A>G (n.906+4A>G)
c.782+4A>G
c.861+4A>G (n.861+4A>G)
c.*241+4A>G (n.*241+4A>G)
n.296+4A>G
c.-10-22772A>G (n.-10-22772A>G)
c.996+4A>G (n.996+4A>G)
c.1026+4A>G (n.1026+4A>G)
c.789+4A>G (n.789+4A>G)
c.1083+4A>G (n.1083+4A>G)
 dbSNP gnomAD v2 gnomAD v4
7g.50470069T=CA1706619829DDC,FIGNL1c.1140+4A= (n.1140+4A=)
c.906+4A= (n.906+4A=)
c.782+4A=
c.861+4A= (n.861+4A=)
c.*241+4A= (n.*241+4A=)
n.296+4A=
c.-10-22772A= (n.-10-22772A=)
c.996+4A= (n.996+4A=)
c.1026+4A= (n.1026+4A=)
c.789+4A= (n.789+4A=)
c.1083+4A= (n.1083+4A=)
7g.50470070C>TCA2682808965DDC,FIGNL1c.1140+3G>A (n.1140+3G>A)
c.906+3G>A (n.906+3G>A)
c.782+3G>A
c.861+3G>A (n.861+3G>A)
c.*241+3G>A (n.*241+3G>A)
n.296+3G>A
c.-10-22773G>A (n.-10-22773G>A)
c.996+3G>A (n.996+3G>A)
c.1026+3G>A (n.1026+3G>A)
c.789+3G>A (n.789+3G>A)
c.1083+3G>A (n.1083+3G>A)
 gnomAD v4
7g.50470071A=CA1706619830DDC,FIGNL1c.1140+2T= (n.1140+2T=)
c.906+2T= (n.906+2T=)
c.782+2T=
c.861+2T= (n.861+2T=)
c.*241+2T= (n.*241+2T=)
n.296+2T=
c.-10-22774T= (n.-10-22774T=)
c.996+2T= (n.996+2T=)
c.1026+2T= (n.1026+2T=)
c.789+2T= (n.789+2T=)
c.1083+2T= (n.1083+2T=)
7g.50470071A>CCA367533001DDC,FIGNL1c.1140+2T>G (n.1140+2T>G)
c.906+2T>G (n.906+2T>G)
c.782+2T>G
c.861+2T>G (n.861+2T>G)
c.*241+2T>G (n.*241+2T>G)
n.296+2T>G
c.-10-22774T>G (n.-10-22774T>G)
c.996+2T>G (n.996+2T>G)
c.1026+2T>G (n.1026+2T>G)
c.789+2T>G (n.789+2T>G)
c.1083+2T>G (n.1083+2T>G)
7g.50470071A>GCA367533003DDC,FIGNL1c.1140+2T>C (n.1140+2T>C)
c.906+2T>C (n.906+2T>C)
c.782+2T>C
c.861+2T>C (n.861+2T>C)
c.*241+2T>C (n.*241+2T>C)
n.296+2T>C
c.-10-22774T>C (n.-10-22774T>C)
c.996+2T>C (n.996+2T>C)
c.1026+2T>C (n.1026+2T>C)
c.789+2T>C (n.789+2T>C)
c.1083+2T>C (n.1083+2T>C)
 dbSNP gnomAD v3 gnomAD v4
7g.50470071A>TCA367533011DDC,FIGNL1c.1140+2T>A (n.1140+2T>A)
c.906+2T>A (n.906+2T>A)
c.782+2T>A
c.861+2T>A (n.861+2T>A)
c.*241+2T>A (n.*241+2T>A)
n.296+2T>A
c.-10-22774T>A (n.-10-22774T>A)
c.996+2T>A (n.996+2T>A)
c.1026+2T>A (n.1026+2T>A)
c.789+2T>A (n.789+2T>A)
c.1083+2T>A (n.1083+2T>A)
7g.50470072C>ACA367533012DDC,FIGNL1c.1140+1G>T (n.1140+1G>T)
c.906+1G>T (n.906+1G>T)
c.782+1G>T
c.861+1G>T (n.861+1G>T)
c.*241+1G>T (n.*241+1G>T)
n.296+1G>T
c.-10-22775G>T (n.-10-22775G>T)
c.996+1G>T (n.996+1G>T)
c.1026+1G>T (n.1026+1G>T)
c.789+1G>T (n.789+1G>T)
c.1083+1G>T (n.1083+1G>T)
7g.50470072C>GCA367533014DDC,FIGNL1c.1140+1G>C (n.1140+1G>C)
c.906+1G>C (n.906+1G>C)
c.782+1G>C
c.861+1G>C (n.861+1G>C)
c.*241+1G>C (n.*241+1G>C)
n.296+1G>C
c.-10-22775G>C (n.-10-22775G>C)
c.996+1G>C (n.996+1G>C)
c.1026+1G>C (n.1026+1G>C)
c.789+1G>C (n.789+1G>C)
c.1083+1G>C (n.1083+1G>C)
 gnomAD v4
7g.50470072C>TCA367533022DDC,FIGNL1c.1140+1G>A (n.1140+1G>A)
c.906+1G>A (n.906+1G>A)
c.782+1G>A
c.861+1G>A (n.861+1G>A)
c.*241+1G>A (n.*241+1G>A)
n.296+1G>A
c.-10-22775G>A (n.-10-22775G>A)
c.996+1G>A (n.996+1G>A)
c.1026+1G>A (n.1026+1G>A)
c.789+1G>A (n.789+1G>A)
c.1083+1G>A (n.1083+1G>A)
7g.50470073C>ACA367533025DDC,FIGNL1c.1140G>T (p.Lys380Asn)
c.906G>T (p.Lys302Asn)
c.782G>T
c.861G>T (p.Lys287Asn)
c.*241G>T (n.*241G>T)
n.296G>T
c.-10-22776G>T (n.-10-22776G>T)
c.996G>T (p.Lys332Asn)
c.1026G>T (p.Lys342Asn)
c.789G>T (p.Lys263Asn)
c.1083G>T (p.Lys361Asn)
7g.50470073C>GCA367533027DDC,FIGNL1c.1140G>C (p.Lys380Asn)
c.906G>C (p.Lys302Asn)
c.782G>C
c.861G>C (p.Lys287Asn)
c.*241G>C (n.*241G>C)
n.296G>C
c.-10-22776G>C (n.-10-22776G>C)
c.996G>C (p.Lys332Asn)
c.1026G>C (p.Lys342Asn)
c.789G>C (p.Lys263Asn)
c.1083G>C (p.Lys361Asn)
7g.50470073C>TCA454931731DDC,FIGNL1c.1140G>A (p.Lys380=)
c.906G>A (p.Lys302=)
c.782G>A
c.861G>A (p.Lys287=)
c.*241G>A (n.*241G>A)
n.296G>A
c.-10-22776G>A (n.-10-22776G>A)
c.996G>A (p.Lys332=)
c.1026G>A (p.Lys342=)
c.789G>A (p.Lys263=)
c.1083G>A (p.Lys361=)
7g.50470074T>ACA367533033DDC,FIGNL1c.1139A>T (p.Lys380Met)
c.905A>T (p.Lys302Met)
c.781A>T
c.860A>T (p.Lys287Met)
c.*240A>T (n.*240A>T)
n.295A>T
c.-10-22777A>T (n.-10-22777A>T)
c.995A>T (p.Lys332Met)
c.1025A>T (p.Lys342Met)
c.788A>T (p.Lys263Met)
c.1082A>T (p.Lys361Met)
7g.50470074T>CCA367533032DDC,FIGNL1c.1139A>G (p.Lys380Arg)
c.905A>G (p.Lys302Arg)
c.781A>G
c.860A>G (p.Lys287Arg)
c.*240A>G (n.*240A>G)
n.295A>G
c.-10-22777A>G (n.-10-22777A>G)
c.995A>G (p.Lys332Arg)
c.1025A>G (p.Lys342Arg)
c.788A>G (p.Lys263Arg)
c.1082A>G (p.Lys361Arg)
7g.50470074T>GCA367533031DDC,FIGNL1c.1139A>C (p.Lys380Thr)
c.905A>C (p.Lys302Thr)
c.781A>C
c.860A>C (p.Lys287Thr)
c.*240A>C (n.*240A>C)
n.295A>C
c.-10-22777A>C (n.-10-22777A>C)
c.995A>C (p.Lys332Thr)
c.1025A>C (p.Lys342Thr)
c.788A>C (p.Lys263Thr)
c.1082A>C (p.Lys361Thr)
7g.50470075T>ACA367533034DDC,FIGNL1c.1138A>T (p.Lys380Ter)
c.904A>T (p.Lys302Ter)
c.780A>T
c.859A>T (p.Lys287Ter)
c.*239A>T (n.*239A>T)
n.294A>T
c.-10-22778A>T (n.-10-22778A>T)
c.994A>T (p.Lys332Ter)
c.1024A>T (p.Lys342Ter)
c.787A>T (p.Lys263Ter)
c.1081A>T (p.Lys361Ter)
7g.50470075T>CCA367533035DDC,FIGNL1c.1138A>G (p.Lys380Glu)
c.904A>G (p.Lys302Glu)
c.780A>G
c.859A>G (p.Lys287Glu)
c.*239A>G (n.*239A>G)
n.294A>G
c.-10-22778A>G (n.-10-22778A>G)
c.994A>G (p.Lys332Glu)
c.1024A>G (p.Lys342Glu)
c.787A>G (p.Lys263Glu)
c.1081A>G (p.Lys361Glu)
7g.50470075T>GCA367533036DDC,FIGNL1c.1138A>C (p.Lys380Gln)
c.904A>C (p.Lys302Gln)
c.780A>C
c.859A>C (p.Lys287Gln)
c.*239A>C (n.*239A>C)
n.294A>C
c.-10-22778A>C (n.-10-22778A>C)
c.994A>C (p.Lys332Gln)
c.1024A>C (p.Lys342Gln)
c.787A>C (p.Lys263Gln)
c.1081A>C (p.Lys361Gln)
7g.50470076G>ACA454931734DDC,FIGNL1c.1137C>T (p.Arg379=)
c.903C>T (p.Arg301=)
c.779C>T
c.858C>T (p.Arg286=)
c.*238C>T (n.*238C>T)
n.293C>T
c.-10-22779C>T (n.-10-22779C>T)
c.993C>T (p.Arg331=)
c.1023C>T (p.Arg341=)
c.786C>T (p.Arg262=)
c.1080C>T (p.Arg360=)
 gnomAD v4
7g.50470076G>CCA454931733DDC,FIGNL1c.1137C>G (p.Arg379=)
c.903C>G (p.Arg301=)
c.779C>G
c.858C>G (p.Arg286=)
c.*238C>G (n.*238C>G)
n.293C>G
c.-10-22779C>G (n.-10-22779C>G)
c.993C>G (p.Arg331=)
c.1023C>G (p.Arg341=)
c.786C>G (p.Arg262=)
c.1080C>G (p.Arg360=)
7g.50470076G>TCA454931732DDC,FIGNL1c.1137C>A (p.Arg379=)
c.903C>A (p.Arg301=)
c.779C>A
c.858C>A (p.Arg286=)
c.*238C>A (n.*238C>A)
n.293C>A
c.-10-22779C>A (n.-10-22779C>A)
c.993C>A (p.Arg331=)
c.1023C>A (p.Arg341=)
c.786C>A (p.Arg262=)
c.1080C>A (p.Arg360=)
 gnomAD v4
7g.50470077C>ACA367533037DDC,FIGNL1c.1136G>T (p.Arg379Leu)
c.902G>T (p.Arg301Leu)
c.778G>T
c.857G>T (p.Arg286Leu)
c.*237G>T (n.*237G>T)
n.292G>T
c.-10-22780G>T (n.-10-22780G>T)
c.992G>T (p.Arg331Leu)
c.1022G>T (p.Arg341Leu)
c.785G>T (p.Arg262Leu)
c.1079G>T (p.Arg360Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.50470077C=CA1706619831DDC,FIGNL1c.1136G= (p.Arg379=)
c.902G= (p.Arg301=)
c.778G=
c.857G= (p.Arg286=)
c.*237G= (n.*237G=)
n.292G=
c.-10-22780G= (n.-10-22780G=)
c.992G= (p.Arg331=)
c.1022G= (p.Arg341=)
c.785G= (p.Arg262=)
c.1079G= (p.Arg360=)
7g.50470077C>GCA367533038DDC,FIGNL1c.1136G>C (p.Arg379Pro)
c.902G>C (p.Arg301Pro)
c.778G>C
c.857G>C (p.Arg286Pro)
c.*237G>C (n.*237G>C)
n.292G>C
c.-10-22780G>C (n.-10-22780G>C)
c.992G>C (p.Arg331Pro)
c.1022G>C (p.Arg341Pro)
c.785G>C (p.Arg262Pro)
c.1079G>C (p.Arg360Pro)
 gnomAD v4
7g.50470077C>TCA4262063DDC,FIGNL1c.1136G>A (p.Arg379His)
c.902G>A (p.Arg301His)
c.778G>A
c.857G>A (p.Arg286His)
c.*237G>A (n.*237G>A)
n.292G>A
c.-10-22780G>A (n.-10-22780G>A)
c.992G>A (p.Arg331His)
c.1022G>A (p.Arg341His)
c.785G>A (p.Arg262His)
c.1079G>A (p.Arg360His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50470078G>ACA4262064DDC,FIGNL1c.1135C>T (p.Arg379Cys)
c.901C>T (p.Arg301Cys)
c.777C>T
c.856C>T (p.Arg286Cys)
c.*236C>T (n.*236C>T)
n.291C>T
c.-10-22781C>T (n.-10-22781C>T)
c.991C>T (p.Arg331Cys)
c.1021C>T (p.Arg341Cys)
c.784C>T (p.Arg262Cys)
c.1078C>T (p.Arg360Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.50470078G>CCA367533049DDC,FIGNL1c.1135C>G (p.Arg379Gly)
c.901C>G (p.Arg301Gly)
c.777C>G
c.856C>G (p.Arg286Gly)
c.*236C>G (n.*236C>G)
n.291C>G
c.-10-22781C>G (n.-10-22781C>G)
c.991C>G (p.Arg331Gly)
c.1021C>G (p.Arg341Gly)
c.784C>G (p.Arg262Gly)
c.1078C>G (p.Arg360Gly)
7g.50470078G=CA1706619832DDC,FIGNL1c.1135C= (p.Arg379=)
c.901C= (p.Arg301=)
c.777C=
c.856C= (p.Arg286=)
c.*236C= (n.*236C=)
n.291C=
c.-10-22781C= (n.-10-22781C=)
c.991C= (p.Arg331=)
c.1021C= (p.Arg341=)
c.784C= (p.Arg262=)
c.1078C= (p.Arg360=)
7g.50470078G>TCA367533052DDC,FIGNL1c.1135C>A (p.Arg379Ser)
c.901C>A (p.Arg301Ser)
c.777C>A
c.856C>A (p.Arg286Ser)
c.*236C>A (n.*236C>A)
n.291C>A
c.-10-22781C>A (n.-10-22781C>A)
c.991C>A (p.Arg331Ser)
c.1021C>A (p.Arg341Ser)
c.784C>A (p.Arg262Ser)
c.1078C>A (p.Arg360Ser)
 gnomAD v4 COSMIC
7g.50470079G>ACA454931735DDC,FIGNL1c.1134C>T (p.Ile378=)
c.900C>T (p.Ile300=)
c.776C>T
c.855C>T (p.Ile285=)
c.*235C>T (n.*235C>T)
n.290C>T
c.-10-22782C>T (n.-10-22782C>T)
c.990C>T (p.Ile330=)
c.1020C>T (p.Ile340=)
c.783C>T (p.Ile261=)
c.1077C>T (p.Ile359=)
 ClinVar
7g.50470079G>CCA367533053DDC,FIGNL1c.1134C>G (p.Ile378Met)
c.900C>G (p.Ile300Met)
c.776C>G
c.855C>G (p.Ile285Met)
c.*235C>G (n.*235C>G)
n.290C>G
c.-10-22782C>G (n.-10-22782C>G)
c.990C>G (p.Ile330Met)
c.1020C>G (p.Ile340Met)
c.783C>G (p.Ile261Met)
c.1077C>G (p.Ile359Met)
 COSMIC
7g.50470079G>TCA454931736DDC,FIGNL1c.1134C>A (p.Ile378=)
c.900C>A (p.Ile300=)
c.776C>A
c.855C>A (p.Ile285=)
c.*235C>A (n.*235C>A)
n.290C>A
c.-10-22782C>A (n.-10-22782C>A)
c.990C>A (p.Ile330=)
c.1020C>A (p.Ile340=)
c.783C>A (p.Ile261=)
c.1077C>A (p.Ile359=)
 gnomAD v4
7g.50470080A>CCA367533055DDC,FIGNL1c.1133T>G (p.Ile378Ser)
c.899T>G (p.Ile300Ser)
c.775T>G
c.854T>G (p.Ile285Ser)
c.*234T>G (n.*234T>G)
n.289T>G
c.-10-22783T>G (n.-10-22783T>G)
c.989T>G (p.Ile330Ser)
c.1019T>G (p.Ile340Ser)
c.782T>G (p.Ile261Ser)
c.1076T>G (p.Ile359Ser)
7g.50470080A>GCA367533065DDC,FIGNL1c.1133T>C (p.Ile378Thr)
c.899T>C (p.Ile300Thr)
c.775T>C
c.854T>C (p.Ile285Thr)
c.*234T>C (n.*234T>C)
n.289T>C
c.-10-22783T>C (n.-10-22783T>C)
c.989T>C (p.Ile330Thr)
c.1019T>C (p.Ile340Thr)
c.782T>C (p.Ile261Thr)
c.1076T>C (p.Ile359Thr)
 gnomAD v4
7g.50470080A>TCA367533067DDC,FIGNL1c.1133T>A (p.Ile378Asn)
c.899T>A (p.Ile300Asn)
c.775T>A
c.854T>A (p.Ile285Asn)
c.*234T>A (n.*234T>A)
n.289T>A
c.-10-22783T>A (n.-10-22783T>A)
c.989T>A (p.Ile330Asn)
c.1019T>A (p.Ile340Asn)
c.782T>A (p.Ile261Asn)
c.1076T>A (p.Ile359Asn)
7g.50470081T>ACA367533071DDC,FIGNL1c.1132A>T (p.Ile378Phe)
c.898A>T (p.Ile300Phe)
c.774A>T
c.853A>T (p.Ile285Phe)
c.*233A>T (n.*233A>T)
n.288A>T
c.-10-22784A>T (n.-10-22784A>T)
c.988A>T (p.Ile330Phe)
c.1018A>T (p.Ile340Phe)
c.781A>T (p.Ile261Phe)
c.1075A>T (p.Ile359Phe)
7g.50470081T>CCA4262065DDC,FIGNL1c.1132A>G (p.Ile378Val)
c.898A>G (p.Ile300Val)
c.774A>G
c.853A>G (p.Ile285Val)
c.*233A>G (n.*233A>G)
n.288A>G
c.-10-22784A>G (n.-10-22784A>G)
c.988A>G (p.Ile330Val)
c.1018A>G (p.Ile340Val)
c.781A>G (p.Ile261Val)
c.1075A>G (p.Ile359Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50470081T>GCA367533073DDC,FIGNL1c.1132A>C (p.Ile378Leu)
c.898A>C (p.Ile300Leu)
c.774A>C
c.853A>C (p.Ile285Leu)
c.*233A>C (n.*233A>C)
n.288A>C
c.-10-22784A>C (n.-10-22784A>C)
c.988A>C (p.Ile330Leu)
c.1018A>C (p.Ile340Leu)
c.781A>C (p.Ile261Leu)
c.1075A>C (p.Ile359Leu)
7g.50470081T=CA1706619833DDC,FIGNL1c.1132A= (p.Ile378=)
c.898A= (p.Ile300=)
c.774A=
c.853A= (p.Ile285=)
c.*233A= (n.*233A=)
n.288A=
c.-10-22784A= (n.-10-22784A=)
c.988A= (p.Ile330=)
c.1018A= (p.Ile340=)
c.781A= (p.Ile261=)
c.1075A= (p.Ile359=)
7g.50470082A>CCA367533077DDC,FIGNL1c.1131T>G (p.Tyr377Ter)
c.897T>G (p.Tyr299Ter)
c.773T>G
c.852T>G (p.Tyr284Ter)
c.*232T>G (n.*232T>G)
n.287T>G
c.-10-22785T>G (n.-10-22785T>G)
c.987T>G (p.Tyr329Ter)
c.1017T>G (p.Tyr339Ter)
c.780T>G (p.Tyr260Ter)
c.1074T>G (p.Tyr358Ter)
7g.50470082A>GCA454931737DDC,FIGNL1c.1131T>C (p.Tyr377=)
c.897T>C (p.Tyr299=)
c.773T>C
c.852T>C (p.Tyr284=)
c.*232T>C (n.*232T>C)
n.287T>C
c.-10-22785T>C (n.-10-22785T>C)
c.987T>C (p.Tyr329=)
c.1017T>C (p.Tyr339=)
c.780T>C (p.Tyr260=)
c.1074T>C (p.Tyr358=)
7g.50470082A>TCA367533079DDC,FIGNL1c.1131T>A (p.Tyr377Ter)
c.897T>A (p.Tyr299Ter)
c.773T>A
c.852T>A (p.Tyr284Ter)
c.*232T>A (n.*232T>A)
n.287T>A
c.-10-22785T>A (n.-10-22785T>A)
c.987T>A (p.Tyr329Ter)
c.1017T>A (p.Tyr339Ter)
c.780T>A (p.Tyr260Ter)
c.1074T>A (p.Tyr358Ter)
7g.50470083T>ACA367533081DDC,FIGNL1c.1130A>T (p.Tyr377Phe)
c.896A>T (p.Tyr299Phe)
c.772A>T
c.851A>T (p.Tyr284Phe)
c.*231A>T (n.*231A>T)
n.286A>T
c.-10-22786A>T (n.-10-22786A>T)
c.986A>T (p.Tyr329Phe)
c.1016A>T (p.Tyr339Phe)
c.779A>T (p.Tyr260Phe)
c.1073A>T (p.Tyr358Phe)
7g.50470083T>CCA367533084DDC,FIGNL1c.1130A>G (p.Tyr377Cys)
c.896A>G (p.Tyr299Cys)
c.772A>G
c.851A>G (p.Tyr284Cys)
c.*231A>G (n.*231A>G)
n.286A>G
c.-10-22786A>G (n.-10-22786A>G)
c.986A>G (p.Tyr329Cys)
c.1016A>G (p.Tyr339Cys)
c.779A>G (p.Tyr260Cys)
c.1073A>G (p.Tyr358Cys)
 gnomAD v4
7g.50470083T>GCA367533086DDC,FIGNL1c.1130A>C (p.Tyr377Ser)
c.896A>C (p.Tyr299Ser)
c.772A>C
c.851A>C (p.Tyr284Ser)
c.*231A>C (n.*231A>C)
n.286A>C
c.-10-22786A>C (n.-10-22786A>C)
c.986A>C (p.Tyr329Ser)
c.1016A>C (p.Tyr339Ser)
c.779A>C (p.Tyr260Ser)
c.1073A>C (p.Tyr358Ser)
7g.50470084A>CCA367533092DDC,FIGNL1c.1129T>G (p.Tyr377Asp)
c.895T>G (p.Tyr299Asp)
c.771T>G
c.850T>G (p.Tyr284Asp)
c.*230T>G (n.*230T>G)
n.285T>G
c.-10-22787T>G (n.-10-22787T>G)
c.985T>G (p.Tyr329Asp)
c.1015T>G (p.Tyr339Asp)
c.778T>G (p.Tyr260Asp)
c.1072T>G (p.Tyr358Asp)
 gnomAD v4
7g.50470084A>GCA367533095DDC,FIGNL1c.1129T>C (p.Tyr377His)
c.895T>C (p.Tyr299His)
c.771T>C
c.850T>C (p.Tyr284His)
c.*230T>C (n.*230T>C)
n.285T>C
c.-10-22787T>C (n.-10-22787T>C)
c.985T>C (p.Tyr329His)
c.1015T>C (p.Tyr339His)
c.778T>C (p.Tyr260His)
c.1072T>C (p.Tyr358His)
7g.50470084A>TCA367533108DDC,FIGNL1c.1129T>A (p.Tyr377Asn)
c.895T>A (p.Tyr299Asn)
c.771T>A
c.850T>A (p.Tyr284Asn)
c.*230T>A (n.*230T>A)
n.285T>A
c.-10-22787T>A (n.-10-22787T>A)
c.985T>A (p.Tyr329Asn)
c.1015T>A (p.Tyr339Asn)
c.778T>A (p.Tyr260Asn)
c.1072T>A (p.Tyr358Asn)
7g.50470085A=CA1706619834DDC,FIGNL1c.1128T= (p.Ala376=)
c.894T= (p.Ala298=)
c.770T=
c.849T= (p.Ala283=)
c.*229T= (n.*229T=)
n.284T=
c.-10-22788T= (n.-10-22788T=)
c.984T= (p.Ala328=)
c.1014T= (p.Ala338=)
c.777T= (p.Ala259=)
c.1071T= (p.Ala357=)
7g.50470085A>CCA454931738DDC,FIGNL1c.1128T>G (p.Ala376=)
c.894T>G (p.Ala298=)
c.770T>G
c.849T>G (p.Ala283=)
c.*229T>G (n.*229T>G)
n.284T>G
c.-10-22788T>G (n.-10-22788T>G)
c.984T>G (p.Ala328=)
c.1014T>G (p.Ala338=)
c.777T>G (p.Ala259=)
c.1071T>G (p.Ala357=)
 dbSNP
7g.50470085A>GCA454931739DDC,FIGNL1c.1128T>C (p.Ala376=)
c.894T>C (p.Ala298=)
c.770T>C
c.849T>C (p.Ala283=)
c.*229T>C (n.*229T>C)
n.284T>C
c.-10-22788T>C (n.-10-22788T>C)
c.984T>C (p.Ala328=)
c.1014T>C (p.Ala338=)
c.777T>C (p.Ala259=)
c.1071T>C (p.Ala357=)
7g.50470085A>TCA454931740DDC,FIGNL1c.1128T>A (p.Ala376=)
c.894T>A (p.Ala298=)
c.770T>A
c.849T>A (p.Ala283=)
c.*229T>A (n.*229T>A)
n.284T>A
c.-10-22788T>A (n.-10-22788T>A)
c.984T>A (p.Ala328=)
c.1014T>A (p.Ala338=)
c.777T>A (p.Ala259=)
c.1071T>A (p.Ala357=)
7g.50470086G>ACA367533109DDC,FIGNL1c.1127C>T (p.Ala376Val)
c.893C>T (p.Ala298Val)
c.769C>T
c.848C>T (p.Ala283Val)
c.*228C>T (n.*228C>T)
n.283C>T
c.-10-22789C>T (n.-10-22789C>T)
c.983C>T (p.Ala328Val)
c.1013C>T (p.Ala338Val)
c.776C>T (p.Ala259Val)
c.1070C>T (p.Ala357Val)
7g.50470086G>CCA367533110DDC,FIGNL1c.1127C>G (p.Ala376Gly)
c.893C>G (p.Ala298Gly)
c.769C>G
c.848C>G (p.Ala283Gly)
c.*228C>G (n.*228C>G)
n.283C>G
c.-10-22789C>G (n.-10-22789C>G)
c.983C>G (p.Ala328Gly)
c.1013C>G (p.Ala338Gly)
c.776C>G (p.Ala259Gly)
c.1070C>G (p.Ala357Gly)
7g.50470086G>TCA367533111DDC,FIGNL1c.1127C>A (p.Ala376Asp)
c.893C>A (p.Ala298Asp)
c.769C>A
c.848C>A (p.Ala283Asp)
c.*228C>A (n.*228C>A)
n.283C>A
c.-10-22789C>A (n.-10-22789C>A)
c.983C>A (p.Ala328Asp)
c.1013C>A (p.Ala338Asp)
c.776C>A (p.Ala259Asp)
c.1070C>A (p.Ala357Asp)
 gnomAD v4
7g.50470087C>ACA367533117DDC,FIGNL1c.1126G>T (p.Ala376Ser)
c.892G>T (p.Ala298Ser)
c.768G>T
c.847G>T (p.Ala283Ser)
c.*227G>T (n.*227G>T)
n.282G>T
c.-10-22790G>T (n.-10-22790G>T)
c.982G>T (p.Ala328Ser)
c.1012G>T (p.Ala338Ser)
c.775G>T (p.Ala259Ser)
c.1069G>T (p.Ala357Ser)
7g.50470087C>GCA367533119DDC,FIGNL1c.1126G>C (p.Ala376Pro)
c.892G>C (p.Ala298Pro)
c.768G>C
c.847G>C (p.Ala283Pro)
c.*227G>C (n.*227G>C)
n.282G>C
c.-10-22790G>C (n.-10-22790G>C)
c.982G>C (p.Ala328Pro)
c.1012G>C (p.Ala338Pro)
c.775G>C (p.Ala259Pro)
c.1069G>C (p.Ala357Pro)
7g.50470087C>TCA367533115DDC,FIGNL1c.1126G>A (p.Ala376Thr)
c.892G>A (p.Ala298Thr)
c.768G>A
c.847G>A (p.Ala283Thr)
c.*227G>A (n.*227G>A)
n.282G>A
c.-10-22790G>A (n.-10-22790G>A)
c.982G>A (p.Ala328Thr)
c.1012G>A (p.Ala338Thr)
c.775G>A (p.Ala259Thr)
c.1069G>A (p.Ala357Thr)
7g.50470088C>ACA367533121DDC,FIGNL1c.1125G>T (p.Gln375His)
c.891G>T (p.Gln297His)
c.767G>T
c.846G>T (p.Gln282His)
c.*226G>T (n.*226G>T)
n.281G>T
c.-10-22791G>T (n.-10-22791G>T)
c.981G>T (p.Gln327His)
c.1011G>T (p.Gln337His)
c.774G>T (p.Gln258His)
c.1068G>T (p.Gln356His)
7g.50470088C>GCA367533129DDC,FIGNL1c.1125G>C (p.Gln375His)
c.891G>C (p.Gln297His)
c.767G>C
c.846G>C (p.Gln282His)
c.*226G>C (n.*226G>C)
n.281G>C
c.-10-22791G>C (n.-10-22791G>C)
c.981G>C (p.Gln327His)
c.1011G>C (p.Gln337His)
c.774G>C (p.Gln258His)
c.1068G>C (p.Gln356His)
7g.50470088C>TCA454931741DDC,FIGNL1c.1125G>A (p.Gln375=)
c.891G>A (p.Gln297=)
c.767G>A
c.846G>A (p.Gln282=)
c.*226G>A (n.*226G>A)
n.281G>A
c.-10-22791G>A (n.-10-22791G>A)
c.981G>A (p.Gln327=)
c.1011G>A (p.Gln337=)
c.774G>A (p.Gln258=)
c.1068G>A (p.Gln356=)
7g.50470089T>ACA367533133DDC,FIGNL1c.1124A>T (p.Gln375Leu)
c.890A>T (p.Gln297Leu)
c.766A>T
c.845A>T (p.Gln282Leu)
c.*225A>T (n.*225A>T)
n.280A>T
c.-10-22792A>T (n.-10-22792A>T)
c.980A>T (p.Gln327Leu)
c.1010A>T (p.Gln337Leu)
c.773A>T (p.Gln258Leu)
c.1067A>T (p.Gln356Leu)
7g.50470089T>CCA367533140DDC,FIGNL1c.1124A>G (p.Gln375Arg)
c.890A>G (p.Gln297Arg)
c.766A>G
c.845A>G (p.Gln282Arg)
c.*225A>G (n.*225A>G)
n.280A>G
c.-10-22792A>G (n.-10-22792A>G)
c.980A>G (p.Gln327Arg)
c.1010A>G (p.Gln337Arg)
c.773A>G (p.Gln258Arg)
c.1067A>G (p.Gln356Arg)
 gnomAD v4
7g.50470089T>GCA367533147DDC,FIGNL1c.1124A>C (p.Gln375Pro)
c.890A>C (p.Gln297Pro)
c.766A>C
c.845A>C (p.Gln282Pro)
c.*225A>C (n.*225A>C)
n.280A>C
c.-10-22792A>C (n.-10-22792A>C)
c.980A>C (p.Gln327Pro)
c.1010A>C (p.Gln337Pro)
c.773A>C (p.Gln258Pro)
c.1067A>C (p.Gln356Pro)
7g.50470090G>ACA4262066DDC,FIGNL1c.1123C>T (p.Gln375Ter)
c.889C>T (p.Gln297Ter)
c.765C>T
c.844C>T (p.Gln282Ter)
c.*224C>T (n.*224C>T)
n.279C>T
c.-10-22793C>T (n.-10-22793C>T)
c.979C>T (p.Gln327Ter)
c.1009C>T (p.Gln337Ter)
c.772C>T (p.Gln258Ter)
c.1066C>T (p.Gln356Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50470090G>CCA367533153DDC,FIGNL1c.1123C>G (p.Gln375Glu)
c.889C>G (p.Gln297Glu)
c.765C>G
c.844C>G (p.Gln282Glu)
c.*224C>G (n.*224C>G)
n.279C>G
c.-10-22793C>G (n.-10-22793C>G)
c.979C>G (p.Gln327Glu)
c.1009C>G (p.Gln337Glu)
c.772C>G (p.Gln258Glu)
c.1066C>G (p.Gln356Glu)
7g.50470090G=CA1706619835DDC,FIGNL1c.1123C= (p.Gln375=)
c.889C= (p.Gln297=)
c.765C=
c.844C= (p.Gln282=)
c.*224C= (n.*224C=)
n.279C=
c.-10-22793C= (n.-10-22793C=)
c.979C= (p.Gln327=)
c.1009C= (p.Gln337=)
c.772C= (p.Gln258=)
c.1066C= (p.Gln356=)
7g.50470090G>TCA367533154DDC,FIGNL1c.1123C>A (p.Gln375Lys)
c.889C>A (p.Gln297Lys)
c.765C>A
c.844C>A (p.Gln282Lys)
c.*224C>A (n.*224C>A)
n.279C>A
c.-10-22793C>A (n.-10-22793C>A)
c.979C>A (p.Gln327Lys)
c.1009C>A (p.Gln337Lys)
c.772C>A (p.Gln258Lys)
c.1066C>A (p.Gln356Lys)
7g.50470091C>ACA454931742DDC,FIGNL1c.1122G>T (p.Leu374=)
c.888G>T (p.Leu296=)
c.764G>T
c.843G>T (p.Leu281=)
c.*223G>T (n.*223G>T)
n.278G>T
c.-10-22794G>T (n.-10-22794G>T)
c.978G>T (p.Leu326=)
c.1008G>T (p.Leu336=)
c.771G>T (p.Leu257=)
c.1065G>T (p.Leu355=)
7g.50470091C=CA1706619836DDC,FIGNL1c.1122G= (p.Leu374=)
c.888G= (p.Leu296=)
c.764G=
c.843G= (p.Leu281=)
c.*223G= (n.*223G=)
n.278G=
c.-10-22794G= (n.-10-22794G=)
c.978G= (p.Leu326=)
c.1008G= (p.Leu336=)
c.771G= (p.Leu257=)
c.1065G= (p.Leu355=)
7g.50470091C>GCA158224340DDC,FIGNL1c.1122G>C (p.Leu374=)
c.888G>C (p.Leu296=)
c.764G>C
c.843G>C (p.Leu281=)
c.*223G>C (n.*223G>C)
n.278G>C
c.-10-22794G>C (n.-10-22794G>C)
c.978G>C (p.Leu326=)
c.1008G>C (p.Leu336=)
c.771G>C (p.Leu257=)
c.1065G>C (p.Leu355=)
 dbSNP
7g.50470091C>TCA454931743DDC,FIGNL1c.1122G>A (p.Leu374=)
c.888G>A (p.Leu296=)
c.764G>A
c.843G>A (p.Leu281=)
c.*223G>A (n.*223G>A)
n.278G>A
c.-10-22794G>A (n.-10-22794G>A)
c.978G>A (p.Leu326=)
c.1008G>A (p.Leu336=)
c.771G>A (p.Leu257=)
c.1065G>A (p.Leu355=)
 gnomAD v4
7g.50470092A>CCA367533155DDC,FIGNL1c.1121T>G (p.Leu374Arg)
c.887T>G (p.Leu296Arg)
c.763T>G
c.842T>G (p.Leu281Arg)
c.*222T>G (n.*222T>G)
n.277T>G
c.-10-22795T>G (n.-10-22795T>G)
c.977T>G (p.Leu326Arg)
c.1007T>G (p.Leu336Arg)
c.770T>G (p.Leu257Arg)
c.1064T>G (p.Leu355Arg)
7g.50470092A>GCA367533156DDC,FIGNL1c.1121T>C (p.Leu374Pro)
c.887T>C (p.Leu296Pro)
c.763T>C
c.842T>C (p.Leu281Pro)
c.*222T>C (n.*222T>C)
n.277T>C
c.-10-22795T>C (n.-10-22795T>C)
c.977T>C (p.Leu326Pro)
c.1007T>C (p.Leu336Pro)
c.770T>C (p.Leu257Pro)
c.1064T>C (p.Leu355Pro)
7g.50470092A>TCA367533157DDC,FIGNL1c.1121T>A (p.Leu374Gln)
c.887T>A (p.Leu296Gln)
c.763T>A
c.842T>A (p.Leu281Gln)
c.*222T>A (n.*222T>A)
n.277T>A
c.-10-22795T>A (n.-10-22795T>A)
c.977T>A (p.Leu326Gln)
c.1007T>A (p.Leu336Gln)
c.770T>A (p.Leu257Gln)
c.1064T>A (p.Leu355Gln)
7g.50470092_50470093delinsAGCA1706619837DDC,FIGNL1c.1120_1121delinsCT (p.Leu374=)
c.886_887delinsCT (p.Leu296=)
c.762_763delinsCT
c.841_842delinsCT (p.Leu281=)
c.*221_*222delinsCT (n.*221_*222delinsCT)
n.276_277delinsCT
c.-10-22796_-10-22795delinsCT (n.-10-22796_-10-22795delinsCT)
c.976_977delinsCT (p.Leu326=)
c.1006_1007delinsCT (p.Leu336=)
c.769_770delinsCT (p.Leu257=)
c.1063_1064delinsCT (p.Leu355=)
7g.50470093delCA574298294DDC,FIGNL1c.1120del (p.Leu374CysfsTer?)
c.886del (p.Leu296CysfsTer?)
c.762del
c.841del (p.Leu281CysfsTer?)
c.*221del (n.*221del)
n.276del
c.-10-22796del (n.-10-22796del)
c.976del (p.Leu326CysfsTer?)
c.1006del (p.Leu336CysfsTer?)
c.769del (p.Leu257CysfsTer?)
c.1063del (p.Leu355CysfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.50470093G>ACA454931744DDC,FIGNL1c.1120C>T (p.Leu374=)
c.886C>T (p.Leu296=)
c.762C>T
c.841C>T (p.Leu281=)
c.*221C>T (n.*221C>T)
n.276C>T
c.-10-22796C>T (n.-10-22796C>T)
c.976C>T (p.Leu326=)
c.1006C>T (p.Leu336=)
c.769C>T (p.Leu257=)
c.1063C>T (p.Leu355=)
7g.50470093G>CCA367533158DDC,FIGNL1c.1120C>G (p.Leu374Val)
c.886C>G (p.Leu296Val)
c.762C>G
c.841C>G (p.Leu281Val)
c.*221C>G (n.*221C>G)
n.276C>G
c.-10-22796C>G (n.-10-22796C>G)
c.976C>G (p.Leu326Val)
c.1006C>G (p.Leu336Val)
c.769C>G (p.Leu257Val)
c.1063C>G (p.Leu355Val)
7g.50470093G>TCA367533159DDC,FIGNL1c.1120C>A (p.Leu374Met)
c.886C>A (p.Leu296Met)
c.762C>A
c.841C>A (p.Leu281Met)
c.*221C>A (n.*221C>A)
n.276C>A
c.-10-22796C>A (n.-10-22796C>A)
c.976C>A (p.Leu326Met)
c.1006C>A (p.Leu336Met)
c.769C>A (p.Leu257Met)
c.1063C>A (p.Leu355Met)
 gnomAD v4
7g.50470094T>ACA454931745DDC,FIGNL1c.1119A>T (p.Gly373=)
c.885A>T (p.Gly295=)
c.761A>T
c.840A>T (p.Gly280=)
c.*220A>T (n.*220A>T)
n.275A>T
c.-10-22797A>T (n.-10-22797A>T)
c.975A>T (p.Gly325=)
c.1005A>T (p.Gly335=)
c.768A>T (p.Gly256=)
c.1062A>T (p.Gly354=)
7g.50470094T>CCA454931746DDC,FIGNL1c.1119A>G (p.Gly373=)
c.885A>G (p.Gly295=)
c.761A>G
c.840A>G (p.Gly280=)
c.*220A>G (n.*220A>G)
n.275A>G
c.-10-22797A>G (n.-10-22797A>G)
c.975A>G (p.Gly325=)
c.1005A>G (p.Gly335=)
c.768A>G (p.Gly256=)
c.1062A>G (p.Gly354=)
7g.50470094T>GCA454931747DDC,FIGNL1c.1119A>C (p.Gly373=)
c.885A>C (p.Gly295=)
c.761A>C
c.840A>C (p.Gly280=)
c.*220A>C (n.*220A>C)
n.275A>C
c.-10-22797A>C (n.-10-22797A>C)
c.975A>C (p.Gly325=)
c.1005A>C (p.Gly335=)
c.768A>C (p.Gly256=)
c.1062A>C (p.Gly354=)
7g.50470095C>ACA367533167DDC,FIGNL1c.1118G>T (p.Gly373Val)
c.884G>T (p.Gly295Val)
c.760G>T
c.839G>T (p.Gly280Val)
c.*219G>T (n.*219G>T)
n.274G>T
c.-10-22798G>T (n.-10-22798G>T)
c.974G>T (p.Gly325Val)
c.1004G>T (p.Gly335Val)
c.767G>T (p.Gly256Val)
c.1061G>T (p.Gly354Val)
7g.50470095C>GCA367533165DDC,FIGNL1c.1118G>C (p.Gly373Ala)
c.884G>C (p.Gly295Ala)
c.760G>C
c.839G>C (p.Gly280Ala)
c.*219G>C (n.*219G>C)
n.274G>C
c.-10-22798G>C (n.-10-22798G>C)
c.974G>C (p.Gly325Ala)
c.1004G>C (p.Gly335Ala)
c.767G>C (p.Gly256Ala)
c.1061G>C (p.Gly354Ala)
7g.50470095C>TCA367533163DDC,FIGNL1c.1118G>A (p.Gly373Glu)
c.884G>A (p.Gly295Glu)
c.760G>A
c.839G>A (p.Gly280Glu)
c.*219G>A (n.*219G>A)
n.274G>A
c.-10-22798G>A (n.-10-22798G>A)
c.974G>A (p.Gly325Glu)
c.1004G>A (p.Gly335Glu)
c.767G>A (p.Gly256Glu)
c.1061G>A (p.Gly354Glu)
 COSMIC
7g.50470096C>ACA367533172DDC,FIGNL1c.1117G>T (p.Gly373Ter)
c.883G>T (p.Gly295Ter)
c.759G>T
c.838G>T (p.Gly280Ter)
c.*218G>T (n.*218G>T)
n.273G>T
c.-10-22799G>T (n.-10-22799G>T)
c.973G>T (p.Gly325Ter)
c.1003G>T (p.Gly335Ter)
c.766G>T (p.Gly256Ter)
c.1060G>T (p.Gly354Ter)
 COSMIC
7g.50470096C=CA1706619838DDC,FIGNL1c.1117G= (p.Gly373=)
c.883G= (p.Gly295=)
c.759G=
c.838G= (p.Gly280=)
c.*218G= (n.*218G=)
n.273G=
c.-10-22799G= (n.-10-22799G=)
c.973G= (p.Gly325=)
c.1003G= (p.Gly335=)
c.766G= (p.Gly256=)
c.1060G= (p.Gly354=)
7g.50470096C>GCA367533173DDC,FIGNL1c.1117G>C (p.Gly373Arg)
c.883G>C (p.Gly295Arg)
c.759G>C
c.838G>C (p.Gly280Arg)
c.*218G>C (n.*218G>C)
n.273G>C
c.-10-22799G>C (n.-10-22799G>C)
c.973G>C (p.Gly325Arg)
c.1003G>C (p.Gly335Arg)
c.766G>C (p.Gly256Arg)
c.1060G>C (p.Gly354Arg)
7g.50470096C>TCA367533175DDC,FIGNL1c.1117G>A (p.Gly373Arg)
c.883G>A (p.Gly295Arg)
c.759G>A
c.838G>A (p.Gly280Arg)
c.*218G>A (n.*218G>A)
n.273G>A
c.-10-22799G>A (n.-10-22799G>A)
c.973G>A (p.Gly325Arg)
c.1003G>A (p.Gly335Arg)
c.766G>A (p.Gly256Arg)
c.1060G>A (p.Gly354Arg)
 dbSNP
7g.50470097T>ACA367533179DDC,FIGNL1c.1116A>T (p.Lys372Asn)
c.882A>T (p.Lys294Asn)
c.758A>T
c.837A>T (p.Lys279Asn)
c.*217A>T (n.*217A>T)
n.272A>T
c.-10-22800A>T (n.-10-22800A>T)
c.972A>T (p.Lys324Asn)
c.1002A>T (p.Lys334Asn)
c.765A>T (p.Lys255Asn)
c.1059A>T (p.Lys353Asn)
7g.50470097T>CCA454931748DDC,FIGNL1c.1116A>G (p.Lys372=)
c.882A>G (p.Lys294=)
c.758A>G
c.837A>G (p.Lys279=)
c.*217A>G (n.*217A>G)
n.272A>G
c.-10-22800A>G (n.-10-22800A>G)
c.972A>G (p.Lys324=)
c.1002A>G (p.Lys334=)
c.765A>G (p.Lys255=)
c.1059A>G (p.Lys353=)
7g.50470097T>GCA367533184DDC,FIGNL1c.1116A>C (p.Lys372Asn)
c.882A>C (p.Lys294Asn)
c.758A>C
c.837A>C (p.Lys279Asn)
c.*217A>C (n.*217A>C)
n.272A>C
c.-10-22800A>C (n.-10-22800A>C)
c.972A>C (p.Lys324Asn)
c.1002A>C (p.Lys334Asn)
c.765A>C (p.Lys255Asn)
c.1059A>C (p.Lys353Asn)
7g.50470097T=CA1706619839DDC,FIGNL1c.1116A= (p.Lys372=)
c.882A= (p.Lys294=)
c.758A=
c.837A= (p.Lys279=)
c.*217A= (n.*217A=)
n.272A=
c.-10-22800A= (n.-10-22800A=)
c.972A= (p.Lys324=)
c.1002A= (p.Lys334=)
c.765A= (p.Lys255=)
c.1059A= (p.Lys353=)
7g.50470098T>ACA367533191DDC,FIGNL1c.1115A>T (p.Lys372Ile)
c.881A>T (p.Lys294Ile)
c.757A>T
c.836A>T (p.Lys279Ile)
c.*216A>T (n.*216A>T)
n.271A>T
c.-10-22801A>T (n.-10-22801A>T)
c.971A>T (p.Lys324Ile)
c.1001A>T (p.Lys334Ile)
c.764A>T (p.Lys255Ile)
c.1058A>T (p.Lys353Ile)
7g.50470098T>CCA367533192DDC,FIGNL1c.1115A>G (p.Lys372Arg)
c.881A>G (p.Lys294Arg)
c.757A>G
c.836A>G (p.Lys279Arg)
c.*216A>G (n.*216A>G)
n.271A>G
c.-10-22801A>G (n.-10-22801A>G)
c.971A>G (p.Lys324Arg)
c.1001A>G (p.Lys334Arg)
c.764A>G (p.Lys255Arg)
c.1058A>G (p.Lys353Arg)
7g.50470098T>GCA367533193DDC,FIGNL1c.1115A>C (p.Lys372Thr)
c.881A>C (p.Lys294Thr)
c.757A>C
c.836A>C (p.Lys279Thr)
c.*216A>C (n.*216A>C)
n.271A>C
c.-10-22801A>C (n.-10-22801A>C)
c.971A>C (p.Lys324Thr)
c.1001A>C (p.Lys334Thr)
c.764A>C (p.Lys255Thr)
c.1058A>C (p.Lys353Thr)
7g.50470098_50470099insATATGTATCA574298295DDC,FIGNL1c.1115_1116insTACATATA (p.Lys372AsnfsTer?)
c.881_882insTACATATA (p.Lys294AsnfsTer?)
c.757_758insTACATATA
c.836_837insTACATATA (p.Lys279AsnfsTer?)
c.*216_*217insTACATATA (n.*216_*217insTACATATA)
n.271_272insTACATATA
c.-10-22801_-10-22800insTACATATA (n.-10-22801_-10-22800insTACATATA)
c.971_972insTACATATA (p.Lys324AsnfsTer?)
c.1001_1002insTACATATA (p.Lys334AsnfsTer?)
c.764_765insTACATATA (p.Lys255AsnfsTer?)
c.1058_1059insTACATATA (p.Lys353AsnfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.50470099T>ACA367533197DDC,FIGNL1c.1114A>T (p.Lys372Ter)
c.880A>T (p.Lys294Ter)
c.756A>T
c.835A>T (p.Lys279Ter)
c.*215A>T (n.*215A>T)
n.270A>T
c.-10-22802A>T (n.-10-22802A>T)
c.970A>T (p.Lys324Ter)
c.1000A>T (p.Lys334Ter)
c.763A>T (p.Lys255Ter)
c.1057A>T (p.Lys353Ter)
7g.50470099T>CCA367533209DDC,FIGNL1c.1114A>G (p.Lys372Glu)
c.880A>G (p.Lys294Glu)
c.756A>G
c.835A>G (p.Lys279Glu)
c.*215A>G (n.*215A>G)
n.270A>G
c.-10-22802A>G (n.-10-22802A>G)
c.970A>G (p.Lys324Glu)
c.1000A>G (p.Lys334Glu)
c.763A>G (p.Lys255Glu)
c.1057A>G (p.Lys353Glu)
7g.50470099T>GCA367533210DDC,FIGNL1c.1114A>C (p.Lys372Gln)
c.880A>C (p.Lys294Gln)
c.756A>C
c.835A>C (p.Lys279Gln)
c.*215A>C (n.*215A>C)
n.270A>C
c.-10-22802A>C (n.-10-22802A>C)
c.970A>C (p.Lys324Gln)
c.1000A>C (p.Lys334Gln)
c.763A>C (p.Lys255Gln)
c.1057A>C (p.Lys353Gln)
 gnomAD v4
7g.50470100G>ACA454931749DDC,FIGNL1c.1113C>T (p.Val371=)
c.879C>T (p.Val293=)
c.755C>T
c.834C>T (p.Val278=)
c.*214C>T (n.*214C>T)
n.269C>T
c.-10-22803C>T (n.-10-22803C>T)
c.969C>T (p.Val323=)
c.999C>T (p.Val333=)
c.762C>T (p.Val254=)
c.1056C>T (p.Val352=)
7g.50470100G>CCA454931750DDC,FIGNL1c.1113C>G (p.Val371=)
c.879C>G (p.Val293=)
c.755C>G
c.834C>G (p.Val278=)
c.*214C>G (n.*214C>G)
n.269C>G
c.-10-22803C>G (n.-10-22803C>G)
c.969C>G (p.Val323=)
c.999C>G (p.Val333=)
c.762C>G (p.Val254=)
c.1056C>G (p.Val352=)
 COSMIC
7g.50470100G>TCA454931751DDC,FIGNL1c.1113C>A (p.Val371=)
c.879C>A (p.Val293=)
c.755C>A
c.834C>A (p.Val278=)
c.*214C>A (n.*214C>A)
n.269C>A
c.-10-22803C>A (n.-10-22803C>A)
c.969C>A (p.Val323=)
c.999C>A (p.Val333=)
c.762C>A (p.Val254=)
c.1056C>A (p.Val352=)
7g.50470101A>CCA367533213DDC,FIGNL1c.1112T>G (p.Val371Gly)
c.878T>G (p.Val293Gly)
c.754T>G
c.833T>G (p.Val278Gly)
c.*213T>G (n.*213T>G)
n.268T>G
c.-10-22804T>G (n.-10-22804T>G)
c.968T>G (p.Val323Gly)
c.998T>G (p.Val333Gly)
c.761T>G (p.Val254Gly)
c.1055T>G (p.Val352Gly)
7g.50470101A>GCA367533214DDC,FIGNL1c.1112T>C (p.Val371Ala)
c.878T>C (p.Val293Ala)
c.754T>C
c.833T>C (p.Val278Ala)
c.*213T>C (n.*213T>C)
n.268T>C
c.-10-22804T>C (n.-10-22804T>C)
c.968T>C (p.Val323Ala)
c.998T>C (p.Val333Ala)
c.761T>C (p.Val254Ala)
c.1055T>C (p.Val352Ala)
7g.50470101A>TCA367533215DDC,FIGNL1c.1112T>A (p.Val371Asp)
c.878T>A (p.Val293Asp)
c.754T>A
c.833T>A (p.Val278Asp)
c.*213T>A (n.*213T>A)
n.268T>A
c.-10-22804T>A (n.-10-22804T>A)
c.968T>A (p.Val323Asp)
c.998T>A (p.Val333Asp)
c.761T>A (p.Val254Asp)
c.1055T>A (p.Val352Asp)
7g.50470102C>ACA367533218DDC,FIGNL1c.1111G>T (p.Val371Phe)
c.877G>T (p.Val293Phe)
c.753G>T
c.832G>T (p.Val278Phe)
c.*212G>T (n.*212G>T)
n.267G>T
c.-10-22805G>T (n.-10-22805G>T)
c.967G>T (p.Val323Phe)
c.997G>T (p.Val333Phe)
c.760G>T (p.Val254Phe)
c.1054G>T (p.Val352Phe)
7g.50470102C>GCA367533221DDC,FIGNL1c.1111G>C (p.Val371Leu)
c.877G>C (p.Val293Leu)
c.753G>C
c.832G>C (p.Val278Leu)
c.*212G>C (n.*212G>C)
n.267G>C
c.-10-22805G>C (n.-10-22805G>C)
c.967G>C (p.Val323Leu)
c.997G>C (p.Val333Leu)
c.760G>C (p.Val254Leu)
c.1054G>C (p.Val352Leu)
7g.50470102C>TCA367533216DDC,FIGNL1c.1111G>A (p.Val371Ile)
c.877G>A (p.Val293Ile)
c.753G>A
c.832G>A (p.Val278Ile)
c.*212G>A (n.*212G>A)
n.267G>A
c.-10-22805G>A (n.-10-22805G>A)
c.967G>A (p.Val323Ile)
c.997G>A (p.Val333Ile)
c.760G>A (p.Val254Ile)
c.1054G>A (p.Val352Ile)
7g.50470103T>ACA454931752DDC,FIGNL1c.1110A>T (p.Gly370=)
c.876A>T (p.Gly292=)
c.752A>T
c.831A>T (p.Gly277=)
c.*211A>T (n.*211A>T)
n.266A>T
c.-10-22806A>T (n.-10-22806A>T)
c.966A>T (p.Gly322=)
c.996A>T (p.Gly332=)
c.759A>T (p.Gly253=)
c.1053A>T (p.Gly351=)
7g.50470103T>CCA454931754DDC,FIGNL1c.1110A>G (p.Gly370=)
c.876A>G (p.Gly292=)
c.752A>G
c.831A>G (p.Gly277=)
c.*211A>G (n.*211A>G)
n.266A>G
c.-10-22806A>G (n.-10-22806A>G)
c.966A>G (p.Gly322=)
c.996A>G (p.Gly332=)
c.759A>G (p.Gly253=)
c.1053A>G (p.Gly351=)
7g.50470103T>GCA454931753DDC,FIGNL1c.1110A>C (p.Gly370=)
c.876A>C (p.Gly292=)
c.752A>C
c.831A>C (p.Gly277=)
c.*211A>C (n.*211A>C)
n.266A>C
c.-10-22806A>C (n.-10-22806A>C)
c.966A>C (p.Gly322=)
c.996A>C (p.Gly332=)
c.759A>C (p.Gly253=)
c.1053A>C (p.Gly351=)
 dbSNP gnomAD v2 gnomAD v4
7g.50470103T=CA1706619840DDC,FIGNL1c.1110A= (p.Gly370=)
c.876A= (p.Gly292=)
c.752A=
c.831A= (p.Gly277=)
c.*211A= (n.*211A=)
n.266A=
c.-10-22806A= (n.-10-22806A=)
c.966A= (p.Gly322=)
c.996A= (p.Gly332=)
c.759A= (p.Gly253=)
c.1053A= (p.Gly351=)
7g.50470104C>ACA367533226DDC,FIGNL1c.1109G>T (p.Gly370Val)
c.875G>T (p.Gly292Val)
c.751G>T
c.830G>T (p.Gly277Val)
c.*210G>T (n.*210G>T)
n.265G>T
c.-10-22807G>T (n.-10-22807G>T)
c.965G>T (p.Gly322Val)
c.995G>T (p.Gly332Val)
c.758G>T (p.Gly253Val)
c.1052G>T (p.Gly351Val)
7g.50470104C=CA1706619841DDC,FIGNL1c.1109G= (p.Gly370=)
c.875G= (p.Gly292=)
c.751G=
c.830G= (p.Gly277=)
c.*210G= (n.*210G=)
n.265G=
c.-10-22807G= (n.-10-22807G=)
c.965G= (p.Gly322=)
c.995G= (p.Gly332=)
c.758G= (p.Gly253=)
c.1052G= (p.Gly351=)
7g.50470104C>GCA367533229DDC,FIGNL1c.1109G>C (p.Gly370Ala)
c.875G>C (p.Gly292Ala)
c.751G>C
c.830G>C (p.Gly277Ala)
c.*210G>C (n.*210G>C)
n.265G>C
c.-10-22807G>C (n.-10-22807G>C)
c.965G>C (p.Gly322Ala)
c.995G>C (p.Gly332Ala)
c.758G>C (p.Gly253Ala)
c.1052G>C (p.Gly351Ala)
7g.50470104C>TCA367533234DDC,FIGNL1c.1109G>A (p.Gly370Glu)
c.875G>A (p.Gly292Glu)
c.751G>A
c.830G>A (p.Gly277Glu)
c.*210G>A (n.*210G>A)
n.265G>A
c.-10-22807G>A (n.-10-22807G>A)
c.965G>A (p.Gly322Glu)
c.995G>A (p.Gly332Glu)
c.758G>A (p.Gly253Glu)
c.1052G>A (p.Gly351Glu)
 dbSNP gnomAD v4
7g.50470105C>ACA367533236DDC,FIGNL1c.1108G>T (p.Gly370Ter)
c.874G>T (p.Gly292Ter)
c.750G>T
c.829G>T (p.Gly277Ter)
c.*209G>T (n.*209G>T)
n.264G>T
c.-10-22808G>T (n.-10-22808G>T)
c.964G>T (p.Gly322Ter)
c.994G>T (p.Gly332Ter)
c.757G>T (p.Gly253Ter)
c.1051G>T (p.Gly351Ter)
7g.50470105C>GCA367533238DDC,FIGNL1c.1108G>C (p.Gly370Arg)
c.874G>C (p.Gly292Arg)
c.750G>C
c.829G>C (p.Gly277Arg)
c.*209G>C (n.*209G>C)
n.264G>C
c.-10-22808G>C (n.-10-22808G>C)
c.964G>C (p.Gly322Arg)
c.994G>C (p.Gly332Arg)
c.757G>C (p.Gly253Arg)
c.1051G>C (p.Gly351Arg)
7g.50470105C>TCA367533240DDC,FIGNL1c.1108G>A (p.Gly370Arg)
c.874G>A (p.Gly292Arg)
c.750G>A
c.829G>A (p.Gly277Arg)
c.*209G>A (n.*209G>A)
n.264G>A
c.-10-22808G>A (n.-10-22808G>A)
c.964G>A (p.Gly322Arg)
c.994G>A (p.Gly332Arg)
c.757G>A (p.Gly253Arg)
c.1051G>A (p.Gly351Arg)
 COSMIC
7g.50470106A>CCA367533245DDC,FIGNL1c.1107T>G (p.Tyr369Ter)
c.873T>G (p.Tyr291Ter)
c.749T>G
c.828T>G (p.Tyr276Ter)
c.*208T>G (n.*208T>G)
n.263T>G
c.-10-22809T>G (n.-10-22809T>G)
c.963T>G (p.Tyr321Ter)
c.993T>G (p.Tyr331Ter)
c.756T>G (p.Tyr252Ter)
c.1050T>G (p.Tyr350Ter)
7g.50470106A>GCA454931755DDC,FIGNL1c.1107T>C (p.Tyr369=)
c.873T>C (p.Tyr291=)
c.749T>C
c.828T>C (p.Tyr276=)
c.*208T>C (n.*208T>C)
n.263T>C
c.-10-22809T>C (n.-10-22809T>C)
c.963T>C (p.Tyr321=)
c.993T>C (p.Tyr331=)
c.756T>C (p.Tyr252=)
c.1050T>C (p.Tyr350=)
7g.50470106A>TCA367533242DDC,FIGNL1c.1107T>A (p.Tyr369Ter)
c.873T>A (p.Tyr291Ter)
c.749T>A
c.828T>A (p.Tyr276Ter)
c.*208T>A (n.*208T>A)
n.263T>A
c.-10-22809T>A (n.-10-22809T>A)
c.963T>A (p.Tyr321Ter)
c.993T>A (p.Tyr331Ter)
c.756T>A (p.Tyr252Ter)
c.1050T>A (p.Tyr350Ter)
 ClinVar
7g.50470107T>ACA367533246DDC,FIGNL1c.1106A>T (p.Tyr369Phe)
c.872A>T (p.Tyr291Phe)
c.748A>T
c.827A>T (p.Tyr276Phe)
c.*207A>T (n.*207A>T)
n.262A>T
c.-10-22810A>T (n.-10-22810A>T)
c.962A>T (p.Tyr321Phe)
c.992A>T (p.Tyr331Phe)
c.755A>T (p.Tyr252Phe)
c.1049A>T (p.Tyr350Phe)
7g.50470107T>CCA10629326DDC,FIGNL1c.1106A>G (p.Tyr369Cys)
c.872A>G (p.Tyr291Cys)
c.748A>G
c.827A>G (p.Tyr276Cys)
c.*207A>G (n.*207A>G)
n.262A>G
c.-10-22810A>G (n.-10-22810A>G)
c.962A>G (p.Tyr321Cys)
c.992A>G (p.Tyr331Cys)
c.755A>G (p.Tyr252Cys)
c.1049A>G (p.Tyr350Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.50470107T>GCA367533247DDC,FIGNL1c.1106A>C (p.Tyr369Ser)
c.872A>C (p.Tyr291Ser)
c.748A>C
c.827A>C (p.Tyr276Ser)
c.*207A>C (n.*207A>C)
n.262A>C
c.-10-22810A>C (n.-10-22810A>C)
c.962A>C (p.Tyr321Ser)
c.992A>C (p.Tyr331Ser)
c.755A>C (p.Tyr252Ser)
c.1049A>C (p.Tyr350Ser)
7g.50470107T=CA1706619842DDC,FIGNL1c.1106A= (p.Tyr369=)
c.872A= (p.Tyr291=)
c.748A=
c.827A= (p.Tyr276=)
c.*207A= (n.*207A=)
n.262A=
c.-10-22810A= (n.-10-22810A=)
c.962A= (p.Tyr321=)
c.992A= (p.Tyr331=)
c.755A= (p.Tyr252=)
c.1049A= (p.Tyr350=)
7g.50470108A>CCA367533248DDC,FIGNL1c.1105T>G (p.Tyr369Asp)
c.871T>G (p.Tyr291Asp)
c.747T>G
c.826T>G (p.Tyr276Asp)
c.*206T>G (n.*206T>G)
n.261T>G
c.-10-22811T>G (n.-10-22811T>G)
c.961T>G (p.Tyr321Asp)
c.991T>G (p.Tyr331Asp)
c.754T>G (p.Tyr252Asp)
c.1048T>G (p.Tyr350Asp)
7g.50470108A>GCA367533249DDC,FIGNL1c.1105T>C (p.Tyr369His)
c.871T>C (p.Tyr291His)
c.747T>C
c.826T>C (p.Tyr276His)
c.*206T>C (n.*206T>C)
n.261T>C
c.-10-22811T>C (n.-10-22811T>C)
c.961T>C (p.Tyr321His)
c.991T>C (p.Tyr331His)
c.754T>C (p.Tyr252His)
c.1048T>C (p.Tyr350His)
7g.50470108A>TCA367533251DDC,FIGNL1c.1105T>A (p.Tyr369Asn)
c.871T>A (p.Tyr291Asn)
c.747T>A
c.826T>A (p.Tyr276Asn)
c.*206T>A (n.*206T>A)
n.261T>A
c.-10-22811T>A (n.-10-22811T>A)
c.961T>A (p.Tyr321Asn)
c.991T>A (p.Tyr331Asn)
c.754T>A (p.Tyr252Asn)
c.1048T>A (p.Tyr350Asn)
7g.50470109C>ACA367533254DDC,FIGNL1c.1104G>T (p.Met368Ile)
c.870G>T (p.Met290Ile)
c.746G>T
c.825G>T (p.Met275Ile)
c.*205G>T (n.*205G>T)
n.260G>T
c.-10-22812G>T (n.-10-22812G>T)
c.960G>T (p.Met320Ile)
c.990G>T (p.Met330Ile)
c.753G>T (p.Met251Ile)
c.1047G>T (p.Met349Ile)
7g.50470109C=CA1706619843DDC,FIGNL1c.1104G= (p.Met368=)
c.870G= (p.Met290=)
c.746G=
c.825G= (p.Met275=)
c.*205G= (n.*205G=)
n.260G=
c.-10-22812G= (n.-10-22812G=)
c.960G= (p.Met320=)
c.990G= (p.Met330=)
c.753G= (p.Met251=)
c.1047G= (p.Met349=)
7g.50470109C>GCA367533265DDC,FIGNL1c.1104G>C (p.Met368Ile)
c.870G>C (p.Met290Ile)
c.746G>C
c.825G>C (p.Met275Ile)
c.*205G>C (n.*205G>C)
n.260G>C
c.-10-22812G>C (n.-10-22812G>C)
c.960G>C (p.Met320Ile)
c.990G>C (p.Met330Ile)
c.753G>C (p.Met251Ile)
c.1047G>C (p.Met349Ile)
7g.50470109C>TCA367533262DDC,FIGNL1c.1104G>A (p.Met368Ile)
c.870G>A (p.Met290Ile)
c.746G>A
c.825G>A (p.Met275Ile)
c.*205G>A (n.*205G>A)
n.260G>A
c.-10-22812G>A (n.-10-22812G>A)
c.960G>A (p.Met320Ile)
c.990G>A (p.Met330Ile)
c.753G>A (p.Met251Ile)
c.1047G>A (p.Met349Ile)
 dbSNP
7g.50470110A=CA1706619844DDC,FIGNL1c.1103T= (p.Met368=)
c.869T= (p.Met290=)
c.745T=
c.824T= (p.Met275=)
c.*204T= (n.*204T=)
n.259T=
c.-10-22813T= (n.-10-22813T=)
c.959T= (p.Met320=)
c.989T= (p.Met330=)
c.752T= (p.Met251=)
c.1046T= (p.Met349=)
7g.50470110A>CCA367533270DDC,FIGNL1c.1103T>G (p.Met368Arg)
c.869T>G (p.Met290Arg)
c.745T>G
c.824T>G (p.Met275Arg)
c.*204T>G (n.*204T>G)
n.259T>G
c.-10-22813T>G (n.-10-22813T>G)
c.959T>G (p.Met320Arg)
c.989T>G (p.Met330Arg)
c.752T>G (p.Met251Arg)
c.1046T>G (p.Met349Arg)
7g.50470110A>GCA4262067DDC,FIGNL1c.1103T>C (p.Met368Thr)
c.869T>C (p.Met290Thr)
c.745T>C
c.824T>C (p.Met275Thr)
c.*204T>C (n.*204T>C)
n.259T>C
c.-10-22813T>C (n.-10-22813T>C)
c.959T>C (p.Met320Thr)
c.989T>C (p.Met330Thr)
c.752T>C (p.Met251Thr)
c.1046T>C (p.Met349Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.50470110A>TCA367533281DDC,FIGNL1c.1103T>A (p.Met368Lys)
c.869T>A (p.Met290Lys)
c.745T>A
c.824T>A (p.Met275Lys)
c.*204T>A (n.*204T>A)
n.259T>A
c.-10-22813T>A (n.-10-22813T>A)
c.959T>A (p.Met320Lys)
c.989T>A (p.Met330Lys)
c.752T>A (p.Met251Lys)
c.1046T>A (p.Met349Lys)
 gnomAD v4
7g.50470111T>ACA367533282DDC,FIGNL1c.1102A>T (p.Met368Leu)
c.868A>T (p.Met290Leu)
c.744A>T
c.823A>T (p.Met275Leu)
c.*203A>T (n.*203A>T)
n.258A>T
c.-10-22814A>T (n.-10-22814A>T)
c.958A>T (p.Met320Leu)
c.988A>T (p.Met330Leu)
c.751A>T (p.Met251Leu)
c.1045A>T (p.Met349Leu)
 gnomAD v4
7g.50470111T>CCA367533285DDC,FIGNL1c.1102A>G (p.Met368Val)
c.868A>G (p.Met290Val)
c.744A>G
c.823A>G (p.Met275Val)
c.*203A>G (n.*203A>G)
n.258A>G
c.-10-22814A>G (n.-10-22814A>G)
c.958A>G (p.Met320Val)
c.988A>G (p.Met330Val)
c.751A>G (p.Met251Val)
c.1045A>G (p.Met349Val)
 gnomAD v4
7g.50470111T>GCA367533286DDC,FIGNL1c.1102A>C (p.Met368Leu)
c.868A>C (p.Met290Leu)
c.744A>C
c.823A>C (p.Met275Leu)
c.*203A>C (n.*203A>C)
n.258A>C
c.-10-22814A>C (n.-10-22814A>C)
c.958A>C (p.Met320Leu)
c.988A>C (p.Met330Leu)
c.751A>C (p.Met251Leu)
c.1045A>C (p.Met349Leu)
7g.50470112C>ACA367533289DDC,FIGNL1c.1101G>T (p.Arg367Ser)
c.867G>T (p.Arg289Ser)
c.743G>T
c.822G>T (p.Arg274Ser)
c.*202G>T (n.*202G>T)
n.257G>T
c.-10-22815G>T (n.-10-22815G>T)
c.957G>T (p.Arg319Ser)
c.987G>T (p.Arg329Ser)
c.750G>T (p.Arg250Ser)
c.1044G>T (p.Arg348Ser)
7g.50470112C>GCA367533292DDC,FIGNL1c.1101G>C (p.Arg367Ser)
c.867G>C (p.Arg289Ser)
c.743G>C
c.822G>C (p.Arg274Ser)
c.*202G>C (n.*202G>C)
n.257G>C
c.-10-22815G>C (n.-10-22815G>C)
c.957G>C (p.Arg319Ser)
c.987G>C (p.Arg329Ser)
c.750G>C (p.Arg250Ser)
c.1044G>C (p.Arg348Ser)
7g.50470112C>TCA454931756DDC,FIGNL1c.1101G>A (p.Arg367=)
c.867G>A (p.Arg289=)
c.743G>A
c.822G>A (p.Arg274=)
c.*202G>A (n.*202G>A)
n.257G>A
c.-10-22815G>A (n.-10-22815G>A)
c.957G>A (p.Arg319=)
c.987G>A (p.Arg329=)
c.750G>A (p.Arg250=)
c.1044G>A (p.Arg348=)
 COSMIC
7g.50470113C>ACA367533298DDC,FIGNL1c.1100G>T (p.Arg367Met)
c.866G>T (p.Arg289Met)
c.742G>T
c.821G>T (p.Arg274Met)
c.*201G>T (n.*201G>T)
n.256G>T
c.-10-22816G>T (n.-10-22816G>T)
c.956G>T (p.Arg319Met)
c.986G>T (p.Arg329Met)
c.749G>T (p.Arg250Met)
c.1043G>T (p.Arg348Met)
7g.50470113C>GCA367533302DDC,FIGNL1c.1100G>C (p.Arg367Thr)
c.866G>C (p.Arg289Thr)
c.742G>C
c.821G>C (p.Arg274Thr)
c.*201G>C (n.*201G>C)
n.256G>C
c.-10-22816G>C (n.-10-22816G>C)
c.956G>C (p.Arg319Thr)
c.986G>C (p.Arg329Thr)
c.749G>C (p.Arg250Thr)
c.1043G>C (p.Arg348Thr)
7g.50470113C>TCA367533306DDC,FIGNL1c.1100G>A (p.Arg367Lys)
c.866G>A (p.Arg289Lys)
c.742G>A
c.821G>A (p.Arg274Lys)
c.*201G>A (n.*201G>A)
n.256G>A
c.-10-22816G>A (n.-10-22816G>A)
c.956G>A (p.Arg319Lys)
c.986G>A (p.Arg329Lys)
c.749G>A (p.Arg250Lys)
c.1043G>A (p.Arg348Lys)
 gnomAD v4
7g.50470114T>ACA367533319DDC,FIGNL1c.1099A>T (p.Arg367Trp)
c.865A>T (p.Arg289Trp)
c.741A>T
c.820A>T (p.Arg274Trp)
c.*200A>T (n.*200A>T)
n.255A>T
c.-10-22817A>T (n.-10-22817A>T)
c.955A>T (p.Arg319Trp)
c.985A>T (p.Arg329Trp)
c.748A>T (p.Arg250Trp)
c.1042A>T (p.Arg348Trp)
7g.50470114T>CCA367533316DDC,FIGNL1c.1099A>G (p.Arg367Gly)
c.865A>G (p.Arg289Gly)
c.741A>G
c.820A>G (p.Arg274Gly)
c.*200A>G (n.*200A>G)
n.255A>G
c.-10-22817A>G (n.-10-22817A>G)
c.955A>G (p.Arg319Gly)
c.985A>G (p.Arg329Gly)
c.748A>G (p.Arg250Gly)
c.1042A>G (p.Arg348Gly)
7g.50470114T>GCA454931757DDC,FIGNL1c.1099A>C (p.Arg367=)
c.865A>C (p.Arg289=)
c.741A>C
c.820A>C (p.Arg274=)
c.*200A>C (n.*200A>C)
n.255A>C
c.-10-22817A>C (n.-10-22817A>C)
c.955A>C (p.Arg319=)
c.985A>C (p.Arg329=)
c.748A>C (p.Arg250=)
c.1042A>C (p.Arg348=)
7g.50470115A>CCA367533321DDC,FIGNL1c.1098T>G (p.Phe366Leu)
c.864T>G (p.Phe288Leu)
c.740T>G
c.819T>G (p.Phe273Leu)
c.*199T>G (n.*199T>G)
n.254T>G
c.-10-22818T>G (n.-10-22818T>G)
c.954T>G (p.Phe318Leu)
c.984T>G (p.Phe328Leu)
c.747T>G (p.Phe249Leu)
c.1041T>G (p.Phe347Leu)
7g.50470115A>GCA454931758DDC,FIGNL1c.1098T>C (p.Phe366=)
c.864T>C (p.Phe288=)
c.740T>C
c.819T>C (p.Phe273=)
c.*199T>C (n.*199T>C)
n.254T>C
c.-10-22818T>C (n.-10-22818T>C)
c.954T>C (p.Phe318=)
c.984T>C (p.Phe328=)
c.747T>C (p.Phe249=)
c.1041T>C (p.Phe347=)
7g.50470115A>TCA367533325DDC,FIGNL1c.1098T>A (p.Phe366Leu)
c.864T>A (p.Phe288Leu)
c.740T>A
c.819T>A (p.Phe273Leu)
c.*199T>A (n.*199T>A)
n.254T>A
c.-10-22818T>A (n.-10-22818T>A)
c.954T>A (p.Phe318Leu)
c.984T>A (p.Phe328Leu)
c.747T>A (p.Phe249Leu)
c.1041T>A (p.Phe347Leu)
7g.50470116A>CCA367533329DDC,FIGNL1c.1097T>G (p.Phe366Cys)
c.863T>G (p.Phe288Cys)
c.739T>G
c.818T>G (p.Phe273Cys)
c.*198T>G (n.*198T>G)
n.253T>G
c.-10-22819T>G (n.-10-22819T>G)
c.953T>G (p.Phe318Cys)
c.983T>G (p.Phe328Cys)
c.746T>G (p.Phe249Cys)
c.1040T>G (p.Phe347Cys)
7g.50470116A>GCA367533335DDC,FIGNL1c.1097T>C (p.Phe366Ser)
c.863T>C (p.Phe288Ser)
c.739T>C
c.818T>C (p.Phe273Ser)
c.*198T>C (n.*198T>C)
n.253T>C
c.-10-22819T>C (n.-10-22819T>C)
c.953T>C (p.Phe318Ser)
c.983T>C (p.Phe328Ser)
c.746T>C (p.Phe249Ser)
c.1040T>C (p.Phe347Ser)
7g.50470116A>TCA367533333DDC,FIGNL1c.1097T>A (p.Phe366Tyr)
c.863T>A (p.Phe288Tyr)
c.739T>A
c.818T>A (p.Phe273Tyr)
c.*198T>A (n.*198T>A)
n.253T>A
c.-10-22819T>A (n.-10-22819T>A)
c.953T>A (p.Phe318Tyr)
c.983T>A (p.Phe328Tyr)
c.746T>A (p.Phe249Tyr)
c.1040T>A (p.Phe347Tyr)
 gnomAD v4
7g.50470117A=CA1706619845DDC,FIGNL1c.1096T= (p.Phe366=)
c.862T= (p.Phe288=)
c.738T=
c.817T= (p.Phe273=)
c.*197T= (n.*197T=)
n.252T=
c.-10-22820T= (n.-10-22820T=)
c.952T= (p.Phe318=)
c.982T= (p.Phe328=)
c.745T= (p.Phe249=)
c.1039T= (p.Phe347=)
7g.50470117A>CCA367533339DDC,FIGNL1c.1096T>G (p.Phe366Val)
c.862T>G (p.Phe288Val)
c.738T>G
c.817T>G (p.Phe273Val)
c.*197T>G (n.*197T>G)
n.252T>G
c.-10-22820T>G (n.-10-22820T>G)
c.952T>G (p.Phe318Val)
c.982T>G (p.Phe328Val)
c.745T>G (p.Phe249Val)
c.1039T>G (p.Phe347Val)
 dbSNP gnomAD v4
7g.50470117A>GCA367533343DDC,FIGNL1c.1096T>C (p.Phe366Leu)
c.862T>C (p.Phe288Leu)
c.738T>C
c.817T>C (p.Phe273Leu)
c.*197T>C (n.*197T>C)
n.252T>C
c.-10-22820T>C (n.-10-22820T>C)
c.952T>C (p.Phe318Leu)
c.982T>C (p.Phe328Leu)
c.745T>C (p.Phe249Leu)
c.1039T>C (p.Phe347Leu)
 gnomAD v4
7g.50470117A>TCA367533344DDC,FIGNL1c.1096T>A (p.Phe366Ile)
c.862T>A (p.Phe288Ile)
c.738T>A
c.817T>A (p.Phe273Ile)
c.*197T>A (n.*197T>A)
n.252T>A
c.-10-22820T>A (n.-10-22820T>A)
c.952T>A (p.Phe318Ile)
c.982T>A (p.Phe328Ile)
c.745T>A (p.Phe249Ile)
c.1039T>A (p.Phe347Ile)
7g.50470118T>ACA454931759DDC,FIGNL1c.1095A>T (p.Val365=)
c.861A>T (p.Val287=)
c.737A>T
c.816A>T (p.Val272=)
c.*196A>T (n.*196A>T)
n.251A>T
c.-10-22821A>T (n.-10-22821A>T)
c.951A>T (p.Val317=)
c.981A>T (p.Val327=)
c.744A>T (p.Val248=)
c.1038A>T (p.Val346=)
7g.50470118T>CCA454931760DDC,FIGNL1c.1095A>G (p.Val365=)
c.861A>G (p.Val287=)
c.737A>G
c.816A>G (p.Val272=)
c.*196A>G (n.*196A>G)
n.251A>G
c.-10-22821A>G (n.-10-22821A>G)
c.951A>G (p.Val317=)
c.981A>G (p.Val327=)
c.744A>G (p.Val248=)
c.1038A>G (p.Val346=)
7g.50470118T>GCA454931761DDC,FIGNL1c.1095A>C (p.Val365=)
c.861A>C (p.Val287=)
c.737A>C
c.816A>C (p.Val272=)
c.*196A>C (n.*196A>C)
n.251A>C
c.-10-22821A>C (n.-10-22821A>C)
c.951A>C (p.Val317=)
c.981A>C (p.Val327=)
c.744A>C (p.Val248=)
c.1038A>C (p.Val346=)
7g.50470119A>CCA367533347DDC,FIGNL1c.1094T>G (p.Val365Gly)
c.860T>G (p.Val287Gly)
c.736T>G
c.815T>G (p.Val272Gly)
c.*195T>G (n.*195T>G)
n.250T>G
c.-10-22822T>G (n.-10-22822T>G)
c.950T>G (p.Val317Gly)
c.980T>G (p.Val327Gly)
c.743T>G (p.Val248Gly)
c.1037T>G (p.Val346Gly)
7g.50470119A>GCA367533350DDC,FIGNL1c.1094T>C (p.Val365Ala)
c.860T>C (p.Val287Ala)
c.736T>C
c.815T>C (p.Val272Ala)
c.*195T>C (n.*195T>C)
n.250T>C
c.-10-22822T>C (n.-10-22822T>C)
c.950T>C (p.Val317Ala)
c.980T>C (p.Val327Ala)
c.743T>C (p.Val248Ala)
c.1037T>C (p.Val346Ala)
7g.50470119A>TCA367533351DDC,FIGNL1c.1094T>A (p.Val365Glu)
c.860T>A (p.Val287Glu)
c.736T>A
c.815T>A (p.Val272Glu)
c.*195T>A (n.*195T>A)
n.250T>A
c.-10-22822T>A (n.-10-22822T>A)
c.950T>A (p.Val317Glu)
c.980T>A (p.Val327Glu)
c.743T>A (p.Val248Glu)
c.1037T>A (p.Val346Glu)
7g.50470120C>ACA367533352DDC,FIGNL1c.1093G>T (p.Val365Leu)
c.859G>T (p.Val287Leu)
c.735G>T
c.814G>T (p.Val272Leu)
c.*194G>T (n.*194G>T)
n.249G>T
c.-10-22823G>T (n.-10-22823G>T)
c.949G>T (p.Val317Leu)
c.979G>T (p.Val327Leu)
c.742G>T (p.Val248Leu)
c.1036G>T (p.Val346Leu)
7g.50470120C>GCA367533353DDC,FIGNL1c.1093G>C (p.Val365Leu)
c.859G>C (p.Val287Leu)
c.735G>C
c.814G>C (p.Val272Leu)
c.*194G>C (n.*194G>C)
n.249G>C
c.-10-22823G>C (n.-10-22823G>C)
c.949G>C (p.Val317Leu)
c.979G>C (p.Val327Leu)
c.742G>C (p.Val248Leu)
c.1036G>C (p.Val346Leu)
7g.50470120C>TCA367533355DDC,FIGNL1c.1093G>A (p.Val365Ile)
c.859G>A (p.Val287Ile)
c.735G>A
c.814G>A (p.Val272Ile)
c.*194G>A (n.*194G>A)
n.249G>A
c.-10-22823G>A (n.-10-22823G>A)
c.949G>A (p.Val317Ile)
c.979G>A (p.Val327Ile)
c.742G>A (p.Val248Ile)
c.1036G>A (p.Val346Ile)
7g.50470121A>CCA367533363DDC,FIGNL1c.1092T>G (p.Phe364Leu)
c.858T>G (p.Phe286Leu)
c.734T>G
c.813T>G (p.Phe271Leu)
c.*193T>G (n.*193T>G)
n.248T>G
c.-10-22824T>G (n.-10-22824T>G)
c.948T>G (p.Phe316Leu)
c.978T>G (p.Phe326Leu)
c.741T>G (p.Phe247Leu)
c.1035T>G (p.Phe345Leu)
7g.50470121A>GCA454931762DDC,FIGNL1c.1092T>C (p.Phe364=)
c.858T>C (p.Phe286=)
c.734T>C
c.813T>C (p.Phe271=)
c.*193T>C (n.*193T>C)
n.248T>C
c.-10-22824T>C (n.-10-22824T>C)
c.948T>C (p.Phe316=)
c.978T>C (p.Phe326=)
c.741T>C (p.Phe247=)
c.1035T>C (p.Phe345=)
7g.50470121A>TCA367533367DDC,FIGNL1c.1092T>A (p.Phe364Leu)
c.858T>A (p.Phe286Leu)
c.734T>A
c.813T>A (p.Phe271Leu)
c.*193T>A (n.*193T>A)
n.248T>A
c.-10-22824T>A (n.-10-22824T>A)
c.948T>A (p.Phe316Leu)
c.978T>A (p.Phe326Leu)
c.741T>A (p.Phe247Leu)
c.1035T>A (p.Phe345Leu)
7g.50470122A>CCA367533382DDC,FIGNL1c.1091T>G (p.Phe364Cys)
c.857T>G (p.Phe286Cys)
c.733T>G
c.812T>G (p.Phe271Cys)
c.*192T>G (n.*192T>G)
n.247T>G
c.-10-22825T>G (n.-10-22825T>G)
c.947T>G (p.Phe316Cys)
c.977T>G (p.Phe326Cys)
c.740T>G (p.Phe247Cys)
c.1034T>G (p.Phe345Cys)
7g.50470122A>GCA367533373DDC,FIGNL1c.1091T>C (p.Phe364Ser)
c.857T>C (p.Phe286Ser)
c.733T>C
c.812T>C (p.Phe271Ser)
c.*192T>C (n.*192T>C)
n.247T>C
c.-10-22825T>C (n.-10-22825T>C)
c.947T>C (p.Phe316Ser)
c.977T>C (p.Phe326Ser)
c.740T>C (p.Phe247Ser)
c.1034T>C (p.Phe345Ser)
7g.50470122A>TCA367533370DDC,FIGNL1c.1091T>A (p.Phe364Tyr)
c.857T>A (p.Phe286Tyr)
c.733T>A
c.812T>A (p.Phe271Tyr)
c.*192T>A (n.*192T>A)
n.247T>A
c.-10-22825T>A (n.-10-22825T>A)
c.947T>A (p.Phe316Tyr)
c.977T>A (p.Phe326Tyr)
c.740T>A (p.Phe247Tyr)
c.1034T>A (p.Phe345Tyr)
7g.50470123A>CCA367533385DDC,FIGNL1c.1090T>G (p.Phe364Val)
c.856T>G (p.Phe286Val)
c.732T>G
c.811T>G (p.Phe271Val)
c.*191T>G (n.*191T>G)
n.246T>G
c.-10-22826T>G (n.-10-22826T>G)
c.946T>G (p.Phe316Val)
c.976T>G (p.Phe326Val)
c.739T>G (p.Phe247Val)
c.1033T>G (p.Phe345Val)
7g.50470123A>GCA367533387DDC,FIGNL1c.1090T>C (p.Phe364Leu)
c.856T>C (p.Phe286Leu)
c.732T>C
c.811T>C (p.Phe271Leu)
c.*191T>C (n.*191T>C)
n.246T>C
c.-10-22826T>C (n.-10-22826T>C)
c.946T>C (p.Phe316Leu)
c.976T>C (p.Phe326Leu)
c.739T>C (p.Phe247Leu)
c.1033T>C (p.Phe345Leu)
7g.50470123A>TCA367533398DDC,FIGNL1c.1090T>A (p.Phe364Ile)
c.856T>A (p.Phe286Ile)
c.732T>A
c.811T>A (p.Phe271Ile)
c.*191T>A (n.*191T>A)
n.246T>A
c.-10-22826T>A (n.-10-22826T>A)
c.946T>A (p.Phe316Ile)
c.976T>A (p.Phe326Ile)
c.739T>A (p.Phe247Ile)
c.1033T>A (p.Phe345Ile)
7g.50470124C>ACA367533401DDC,FIGNL1c.1089G>T (p.Trp363Cys)
c.855G>T (p.Trp285Cys)
c.731G>T
c.810G>T (p.Trp270Cys)
c.*190G>T (n.*190G>T)
n.245G>T
c.-10-22827G>T (n.-10-22827G>T)
c.945G>T (p.Trp315Cys)
c.975G>T (p.Trp325Cys)
c.738G>T (p.Trp246Cys)
c.1032G>T (p.Trp344Cys)
7g.50470124C=CA1706619846DDC,FIGNL1c.1089G= (p.Trp363=)
c.855G= (p.Trp285=)
c.731G=
c.810G= (p.Trp270=)
c.*190G= (n.*190G=)
n.245G=
c.-10-22827G= (n.-10-22827G=)
c.945G= (p.Trp315=)
c.975G= (p.Trp325=)
c.738G= (p.Trp246=)
c.1032G= (p.Trp344=)
7g.50470124C>GCA367533410DDC,FIGNL1c.1089G>C (p.Trp363Cys)
c.855G>C (p.Trp285Cys)
c.731G>C
c.810G>C (p.Trp270Cys)
c.*190G>C (n.*190G>C)
n.245G>C
c.-10-22827G>C (n.-10-22827G>C)
c.945G>C (p.Trp315Cys)
c.975G>C (p.Trp325Cys)
c.738G>C (p.Trp246Cys)
c.1032G>C (p.Trp344Cys)
7g.50470124C>TCA367533413DDC,FIGNL1c.1089G>A (p.Trp363Ter)
c.855G>A (p.Trp285Ter)
c.731G>A
c.810G>A (p.Trp270Ter)
c.*190G>A (n.*190G>A)
n.245G>A
c.-10-22827G>A (n.-10-22827G>A)
c.945G>A (p.Trp315Ter)
c.975G>A (p.Trp325Ter)
c.738G>A (p.Trp246Ter)
c.1032G>A (p.Trp344Ter)
 dbSNP gnomAD v3 gnomAD v4
7g.50470125C>ACA367533416DDC,FIGNL1c.1088G>T (p.Trp363Leu)
c.854G>T (p.Trp285Leu)
c.730G>T
c.809G>T (p.Trp270Leu)
c.*189G>T (n.*189G>T)
n.244G>T
c.-10-22828G>T (n.-10-22828G>T)
c.944G>T (p.Trp315Leu)
c.974G>T (p.Trp325Leu)
c.737G>T (p.Trp246Leu)
c.1031G>T (p.Trp344Leu)
7g.50470125C>GCA367533422DDC,FIGNL1c.1088G>C (p.Trp363Ser)
c.854G>C (p.Trp285Ser)
c.730G>C
c.809G>C (p.Trp270Ser)
c.*189G>C (n.*189G>C)
n.244G>C
c.-10-22828G>C (n.-10-22828G>C)
c.944G>C (p.Trp315Ser)
c.974G>C (p.Trp325Ser)
c.737G>C (p.Trp246Ser)
c.1031G>C (p.Trp344Ser)
7g.50470125C>TCA367533425DDC,FIGNL1c.1088G>A (p.Trp363Ter)
c.854G>A (p.Trp285Ter)
c.730G>A
c.809G>A (p.Trp270Ter)
c.*189G>A (n.*189G>A)
n.244G>A
c.-10-22828G>A (n.-10-22828G>A)
c.944G>A (p.Trp315Ter)
c.974G>A (p.Trp325Ter)
c.737G>A (p.Trp246Ter)
c.1031G>A (p.Trp344Ter)
7g.50470126A=CA1706619847DDC,FIGNL1c.1087T= (p.Trp363=)
c.853T= (p.Trp285=)
c.729T=
c.808T= (p.Trp270=)
c.*188T= (n.*188T=)
n.243T=
c.-10-22829T= (n.-10-22829T=)
c.943T= (p.Trp315=)
c.973T= (p.Trp325=)
c.736T= (p.Trp246=)
c.1030T= (p.Trp344=)
7g.50470126A>CCA367533427DDC,FIGNL1c.1087T>G (p.Trp363Gly)
c.853T>G (p.Trp285Gly)
c.729T>G
c.808T>G (p.Trp270Gly)
c.*188T>G (n.*188T>G)
n.243T>G
c.-10-22829T>G (n.-10-22829T>G)
c.943T>G (p.Trp315Gly)
c.973T>G (p.Trp325Gly)
c.736T>G (p.Trp246Gly)
c.1030T>G (p.Trp344Gly)
7g.50470126A>GCA367533428DDC,FIGNL1c.1087T>C (p.Trp363Arg)
c.853T>C (p.Trp285Arg)
c.729T>C
c.808T>C (p.Trp270Arg)
c.*188T>C (n.*188T>C)
n.243T>C
c.-10-22829T>C (n.-10-22829T>C)
c.943T>C (p.Trp315Arg)
c.973T>C (p.Trp325Arg)
c.736T>C (p.Trp246Arg)
c.1030T>C (p.Trp344Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.50470126A>TCA367533429DDC,FIGNL1c.1087T>A (p.Trp363Arg)
c.853T>A (p.Trp285Arg)
c.729T>A
c.808T>A (p.Trp270Arg)
c.*188T>A (n.*188T>A)
n.243T>A
c.-10-22829T>A (n.-10-22829T>A)
c.943T>A (p.Trp315Arg)
c.973T>A (p.Trp325Arg)
c.736T>A (p.Trp246Arg)
c.1030T>A (p.Trp344Arg)
7g.50470127C>ACA367533431DDC,FIGNL1c.1086G>T (p.Met362Ile)
c.852G>T (p.Met284Ile)
c.728G>T
c.807G>T (p.Met269Ile)
c.*187G>T (n.*187G>T)
n.242G>T
c.-10-22830G>T (n.-10-22830G>T)
c.942G>T (p.Met314Ile)
c.972G>T (p.Met324Ile)
c.735G>T (p.Met245Ile)
c.1029G>T (p.Met343Ile)
7g.50470127C=CA1706619848DDC,FIGNL1c.1086G= (p.Met362=)
c.852G= (p.Met284=)
c.728G=
c.807G= (p.Met269=)
c.*187G= (n.*187G=)
n.242G=
c.-10-22830G= (n.-10-22830G=)
c.942G= (p.Met314=)
c.972G= (p.Met324=)
c.735G= (p.Met245=)
c.1029G= (p.Met343=)
7g.50470127C>GCA367533430DDC,FIGNL1c.1086G>C (p.Met362Ile)
c.852G>C (p.Met284Ile)
c.728G>C
c.807G>C (p.Met269Ile)
c.*187G>C (n.*187G>C)
n.242G>C
c.-10-22830G>C (n.-10-22830G>C)
c.942G>C (p.Met314Ile)
c.972G>C (p.Met324Ile)
c.735G>C (p.Met245Ile)
c.1029G>C (p.Met343Ile)
7g.50470127C>TCA158224346DDC,FIGNL1c.1086G>A (p.Met362Ile)
c.852G>A (p.Met284Ile)
c.728G>A
c.807G>A (p.Met269Ile)
c.*187G>A (n.*187G>A)
n.242G>A
c.-10-22830G>A (n.-10-22830G>A)
c.942G>A (p.Met314Ile)
c.972G>A (p.Met324Ile)
c.735G>A (p.Met245Ile)
c.1029G>A (p.Met343Ile)
 dbSNP gnomAD v3 gnomAD v4
7g.50470128A=CA1706619849DDC,FIGNL1c.1085T= (p.Met362=)
c.851T= (p.Met284=)
c.727T=
c.806T= (p.Met269=)
c.*186T= (n.*186T=)
n.241T=
c.-10-22831T= (n.-10-22831T=)
c.941T= (p.Met314=)
c.971T= (p.Met324=)
c.734T= (p.Met245=)
c.1028T= (p.Met343=)
7g.50470128A>CCA367533432DDC,FIGNL1c.1085T>G (p.Met362Arg)
c.851T>G (p.Met284Arg)
c.727T>G
c.806T>G (p.Met269Arg)
c.*186T>G (n.*186T>G)
n.241T>G
c.-10-22831T>G (n.-10-22831T>G)
c.941T>G (p.Met314Arg)
c.971T>G (p.Met324Arg)
c.734T>G (p.Met245Arg)
c.1028T>G (p.Met343Arg)
7g.50470128A>GCA158224348DDC,FIGNL1c.1085T>C (p.Met362Thr)
c.851T>C (p.Met284Thr)
c.727T>C
c.806T>C (p.Met269Thr)
c.*186T>C (n.*186T>C)
n.241T>C
c.-10-22831T>C (n.-10-22831T>C)
c.941T>C (p.Met314Thr)
c.971T>C (p.Met324Thr)
c.734T>C (p.Met245Thr)
c.1028T>C (p.Met343Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.50470128A>TCA367533437DDC,FIGNL1c.1085T>A (p.Met362Lys)
c.851T>A (p.Met284Lys)
c.727T>A
c.806T>A (p.Met269Lys)
c.*186T>A (n.*186T>A)
n.241T>A
c.-10-22831T>A (n.-10-22831T>A)
c.941T>A (p.Met314Lys)
c.971T>A (p.Met324Lys)
c.734T>A (p.Met245Lys)
c.1028T>A (p.Met343Lys)
7g.50470129T>ACA367533440DDC,FIGNL1c.1084A>T (p.Met362Leu)
c.850A>T (p.Met284Leu)
c.726A>T
c.805A>T (p.Met269Leu)
c.*185A>T (n.*185A>T)
n.240A>T
c.-10-22832A>T (n.-10-22832A>T)
c.940A>T (p.Met314Leu)
c.970A>T (p.Met324Leu)
c.733A>T (p.Met245Leu)
c.1027A>T (p.Met343Leu)
7g.50470129T>CCA367533441DDC,FIGNL1c.1084A>G (p.Met362Val)
c.850A>G (p.Met284Val)
c.726A>G
c.805A>G (p.Met269Val)
c.*185A>G (n.*185A>G)
n.240A>G
c.-10-22832A>G (n.-10-22832A>G)
c.940A>G (p.Met314Val)
c.970A>G (p.Met324Val)
c.733A>G (p.Met245Val)
c.1027A>G (p.Met343Val)
7g.50470129T>GCA367533446DDC,FIGNL1c.1084A>C (p.Met362Leu)
c.850A>C (p.Met284Leu)
c.726A>C
c.805A>C (p.Met269Leu)
c.*185A>C (n.*185A>C)
n.240A>C
c.-10-22832A>C (n.-10-22832A>C)
c.940A>C (p.Met314Leu)
c.970A>C (p.Met324Leu)
c.733A>C (p.Met245Leu)
c.1027A>C (p.Met343Leu)
7g.50470130T>ACA367533450DDC,FIGNL1c.1083A>T (p.Lys361Asn)
c.849A>T (p.Lys283Asn)
c.725A>T
c.804A>T (p.Lys268Asn)
c.*184A>T (n.*184A>T)
n.239A>T
c.-10-22833A>T (n.-10-22833A>T)
c.939A>T (p.Lys313Asn)
c.969A>T (p.Lys323Asn)
c.732A>T (p.Lys244Asn)
c.1026A>T (p.Lys342Asn)
7g.50470130T>CCA454931763DDC,FIGNL1c.1083A>G (p.Lys361=)
c.849A>G (p.Lys283=)
c.725A>G
c.804A>G (p.Lys268=)
c.*184A>G (n.*184A>G)
n.239A>G
c.-10-22833A>G (n.-10-22833A>G)
c.939A>G (p.Lys313=)
c.969A>G (p.Lys323=)
c.732A>G (p.Lys244=)
c.1026A>G (p.Lys342=)
7g.50470130T>GCA367533452DDC,FIGNL1c.1083A>C (p.Lys361Asn)
c.849A>C (p.Lys283Asn)
c.725A>C
c.804A>C (p.Lys268Asn)
c.*184A>C (n.*184A>C)
n.239A>C
c.-10-22833A>C (n.-10-22833A>C)
c.939A>C (p.Lys313Asn)
c.969A>C (p.Lys323Asn)
c.732A>C (p.Lys244Asn)
c.1026A>C (p.Lys342Asn)
7g.50470130_50470138delCA2682808966DDC,FIGNL1c.1075_1083del (p.Ser359_Lys361del)
c.841_849del (p.Ser281_Lys283del)
c.717_725del
c.796_804del (p.Ser266_Lys268del)
c.*176_*184del (n.*176_*184del)
n.231_239del
c.-10-22841_-10-22833del (n.-10-22841_-10-22833del)
c.931_939del (p.Ser311_Lys313del)
c.961_969del (p.Ser321_Lys323del)
c.724_732del (p.Ser242_Lys244del)
c.1018_1026del (p.Ser340_Lys342del)
 gnomAD v4
7g.50470131T>ACA367533455DDC,FIGNL1c.1082A>T (p.Lys361Ile)
c.848A>T (p.Lys283Ile)
c.724A>T
c.803A>T (p.Lys268Ile)
c.*183A>T (n.*183A>T)
n.238A>T
c.-10-22834A>T (n.-10-22834A>T)
c.938A>T (p.Lys313Ile)
c.968A>T (p.Lys323Ile)
c.731A>T (p.Lys244Ile)
c.1025A>T (p.Lys342Ile)
7g.50470131T>CCA367533460DDC,FIGNL1c.1082A>G (p.Lys361Arg)
c.848A>G (p.Lys283Arg)
c.724A>G
c.803A>G (p.Lys268Arg)
c.*183A>G (n.*183A>G)
n.238A>G
c.-10-22834A>G (n.-10-22834A>G)
c.938A>G (p.Lys313Arg)
c.968A>G (p.Lys323Arg)
c.731A>G (p.Lys244Arg)
c.1025A>G (p.Lys342Arg)
7g.50470131T>GCA367533464DDC,FIGNL1c.1082A>C (p.Lys361Thr)
c.848A>C (p.Lys283Thr)
c.724A>C
c.803A>C (p.Lys268Thr)
c.*183A>C (n.*183A>C)
n.238A>C
c.-10-22834A>C (n.-10-22834A>C)
c.938A>C (p.Lys313Thr)
c.968A>C (p.Lys323Thr)
c.731A>C (p.Lys244Thr)
c.1025A>C (p.Lys342Thr)
7g.50470132T>ACA367533468DDC,FIGNL1c.1081A>T (p.Lys361Ter)
c.847A>T (p.Lys283Ter)
c.723A>T
c.802A>T (p.Lys268Ter)
c.*182A>T (n.*182A>T)
n.237A>T
c.-10-22835A>T (n.-10-22835A>T)
c.937A>T (p.Lys313Ter)
c.967A>T (p.Lys323Ter)
c.730A>T (p.Lys244Ter)
c.1024A>T (p.Lys342Ter)
7g.50470132T>CCA367533472DDC,FIGNL1c.1081A>G (p.Lys361Glu)
c.847A>G (p.Lys283Glu)
c.723A>G
c.802A>G (p.Lys268Glu)
c.*182A>G (n.*182A>G)
n.237A>G
c.-10-22835A>G (n.-10-22835A>G)
c.937A>G (p.Lys313Glu)
c.967A>G (p.Lys323Glu)
c.730A>G (p.Lys244Glu)
c.1024A>G (p.Lys342Glu)
7g.50470132T>GCA367533474DDC,FIGNL1c.1081A>C (p.Lys361Gln)
c.847A>C (p.Lys283Gln)
c.723A>C
c.802A>C (p.Lys268Gln)
c.*182A>C (n.*182A>C)
n.237A>C
c.-10-22835A>C (n.-10-22835A>C)
c.937A>C (p.Lys313Gln)
c.967A>C (p.Lys323Gln)
c.730A>C (p.Lys244Gln)
c.1024A>C (p.Lys342Gln)
7g.50470133C>ACA367533481DDC,FIGNL1c.1080G>T (p.Leu360Phe)
c.846G>T (p.Leu282Phe)
c.722G>T
c.801G>T (p.Leu267Phe)
c.*181G>T (n.*181G>T)
n.236G>T
c.-10-22836G>T (n.-10-22836G>T)
c.936G>T (p.Leu312Phe)
c.966G>T (p.Leu322Phe)
c.729G>T (p.Leu243Phe)
c.1023G>T (p.Leu341Phe)
7g.50470133C>GCA367533484DDC,FIGNL1c.1080G>C (p.Leu360Phe)
c.846G>C (p.Leu282Phe)
c.722G>C
c.801G>C (p.Leu267Phe)
c.*181G>C (n.*181G>C)
n.236G>C
c.-10-22836G>C (n.-10-22836G>C)
c.936G>C (p.Leu312Phe)
c.966G>C (p.Leu322Phe)
c.729G>C (p.Leu243Phe)
c.1023G>C (p.Leu341Phe)
7g.50470133C>TCA454931765DDC,FIGNL1c.1080G>A (p.Leu360=)
c.846G>A (p.Leu282=)
c.722G>A
c.801G>A (p.Leu267=)
c.*181G>A (n.*181G>A)
n.236G>A
c.-10-22836G>A (n.-10-22836G>A)
c.936G>A (p.Leu312=)
c.966G>A (p.Leu322=)
c.729G>A (p.Leu243=)
c.1023G>A (p.Leu341=)
7g.50470133_50470136delCA2775390636DDC,FIGNL1c.1077_1080del (p.Leu360LysfsTer?)
c.843_846del (p.Leu282LysfsTer?)
c.719_722del
c.798_801del (p.Leu267LysfsTer?)
c.*178_*181del (n.*178_*181del)
n.233_236del
c.-10-22839_-10-22836del (n.-10-22839_-10-22836del)
c.933_936del (p.Leu312LysfsTer?)
c.963_966del (p.Leu322LysfsTer?)
c.726_729del (p.Leu243LysfsTer?)
c.1020_1023del (p.Leu341LysfsTer?)
7g.50470134A>CCA367533486DDC,FIGNL1c.1079T>G (p.Leu360Trp)
c.845T>G (p.Leu282Trp)
c.721T>G
c.800T>G (p.Leu267Trp)
c.*180T>G (n.*180T>G)
n.235T>G
c.-10-22837T>G (n.-10-22837T>G)
c.935T>G (p.Leu312Trp)
c.965T>G (p.Leu322Trp)
c.728T>G (p.Leu243Trp)
c.1022T>G (p.Leu341Trp)
7g.50470134A>GCA367533488DDC,FIGNL1c.1079T>C (p.Leu360Ser)
c.845T>C (p.Leu282Ser)
c.721T>C
c.800T>C (p.Leu267Ser)
c.*180T>C (n.*180T>C)
n.235T>C
c.-10-22837T>C (n.-10-22837T>C)
c.935T>C (p.Leu312Ser)
c.965T>C (p.Leu322Ser)
c.728T>C (p.Leu243Ser)
c.1022T>C (p.Leu341Ser)
7g.50470134A>TCA367533493DDC,FIGNL1c.1079T>A (p.Leu360Ter)
c.845T>A (p.Leu282Ter)
c.721T>A
c.800T>A (p.Leu267Ter)
c.*180T>A (n.*180T>A)
n.235T>A
c.-10-22837T>A (n.-10-22837T>A)
c.935T>A (p.Leu312Ter)
c.965T>A (p.Leu322Ter)
c.728T>A (p.Leu243Ter)
c.1022T>A (p.Leu341Ter)
7g.50470135A>CCA367533496DDC,FIGNL1c.1078T>G (p.Leu360Val)
c.844T>G (p.Leu282Val)
c.720T>G
c.799T>G (p.Leu267Val)
c.*179T>G (n.*179T>G)
n.234T>G
c.-10-22838T>G (n.-10-22838T>G)
c.934T>G (p.Leu312Val)
c.964T>G (p.Leu322Val)
c.727T>G (p.Leu243Val)
c.1021T>G (p.Leu341Val)
7g.50470135A>GCA454931766DDC,FIGNL1c.1078T>C (p.Leu360=)
c.844T>C (p.Leu282=)
c.720T>C
c.799T>C (p.Leu267=)
c.*179T>C (n.*179T>C)
n.234T>C
c.-10-22838T>C (n.-10-22838T>C)
c.934T>C (p.Leu312=)
c.964T>C (p.Leu322=)
c.727T>C (p.Leu243=)
c.1021T>C (p.Leu341=)
7g.50470135A>TCA367533499DDC,FIGNL1c.1078T>A (p.Leu360Met)
c.844T>A (p.Leu282Met)
c.720T>A
c.799T>A (p.Leu267Met)
c.*179T>A (n.*179T>A)
n.234T>A
c.-10-22838T>A (n.-10-22838T>A)
c.934T>A (p.Leu312Met)
c.964T>A (p.Leu322Met)
c.727T>A (p.Leu243Met)
c.1021T>A (p.Leu341Met)
7g.50470136A=CA1706619850DDC,FIGNL1c.1077T= (p.Ser359=)
c.843T= (p.Ser281=)
c.719T=
c.798T= (p.Ser266=)
c.*178T= (n.*178T=)
n.233T=
c.-10-22839T= (n.-10-22839T=)
c.933T= (p.Ser311=)
c.963T= (p.Ser321=)
c.726T= (p.Ser242=)
c.1020T= (p.Ser340=)
7g.50470136A>CCA454931767DDC,FIGNL1c.1077T>G (p.Ser359=)
c.843T>G (p.Ser281=)
c.719T>G
c.798T>G (p.Ser266=)
c.*178T>G (n.*178T>G)
n.233T>G
c.-10-22839T>G (n.-10-22839T>G)
c.933T>G (p.Ser311=)
c.963T>G (p.Ser321=)
c.726T>G (p.Ser242=)
c.1020T>G (p.Ser340=)
7g.50470136A>GCA454931768DDC,FIGNL1c.1077T>C (p.Ser359=)
c.843T>C (p.Ser281=)
c.719T>C
c.798T>C (p.Ser266=)
c.*178T>C (n.*178T>C)
n.233T>C
c.-10-22839T>C (n.-10-22839T>C)
c.933T>C (p.Ser311=)
c.963T>C (p.Ser321=)
c.726T>C (p.Ser242=)
c.1020T>C (p.Ser340=)
 gnomAD v4
7g.50470136A>TCA454931769DDC,FIGNL1c.1077T>A (p.Ser359=)
c.843T>A (p.Ser281=)
c.719T>A
c.798T>A (p.Ser266=)
c.*178T>A (n.*178T>A)
n.233T>A
c.-10-22839T>A (n.-10-22839T>A)
c.933T>A (p.Ser311=)
c.963T>A (p.Ser321=)
c.726T>A (p.Ser242=)
c.1020T>A (p.Ser340=)
 dbSNP gnomAD v3 gnomAD v4
7g.50470137G>ACA367533502DDC,FIGNL1c.1076C>T (p.Ser359Phe)
c.842C>T (p.Ser281Phe)
c.718C>T
c.797C>T (p.Ser266Phe)
c.*177C>T (n.*177C>T)
n.232C>T
c.-10-22840C>T (n.-10-22840C>T)
c.932C>T (p.Ser311Phe)
c.962C>T (p.Ser321Phe)
c.725C>T (p.Ser242Phe)
c.1019C>T (p.Ser340Phe)
7g.50470137G>CCA367533503DDC,FIGNL1c.1076C>G (p.Ser359Cys)
c.842C>G (p.Ser281Cys)
c.718C>G
c.797C>G (p.Ser266Cys)
c.*177C>G (n.*177C>G)
n.232C>G
c.-10-22840C>G (n.-10-22840C>G)
c.932C>G (p.Ser311Cys)
c.962C>G (p.Ser321Cys)
c.725C>G (p.Ser242Cys)
c.1019C>G (p.Ser340Cys)
7g.50470137G>TCA367533504DDC,FIGNL1c.1076C>A (p.Ser359Tyr)
c.842C>A (p.Ser281Tyr)
c.718C>A
c.797C>A (p.Ser266Tyr)
c.*177C>A (n.*177C>A)
n.232C>A
c.-10-22840C>A (n.-10-22840C>A)
c.932C>A (p.Ser311Tyr)
c.962C>A (p.Ser321Tyr)
c.725C>A (p.Ser242Tyr)
c.1019C>A (p.Ser340Tyr)
7g.50470138A>CCA367533505DDC,FIGNL1c.1075T>G (p.Ser359Ala)
c.841T>G (p.Ser281Ala)
c.717T>G
c.796T>G (p.Ser266Ala)
c.*176T>G (n.*176T>G)
n.231T>G
c.-10-22841T>G (n.-10-22841T>G)
c.931T>G (p.Ser311Ala)
c.961T>G (p.Ser321Ala)
c.724T>G (p.Ser242Ala)
c.1018T>G (p.Ser340Ala)
7g.50470138A>GCA367533508DDC,FIGNL1c.1075T>C (p.Ser359Pro)
c.841T>C (p.Ser281Pro)
c.717T>C
c.796T>C (p.Ser266Pro)
c.*176T>C (n.*176T>C)
n.231T>C
c.-10-22841T>C (n.-10-22841T>C)
c.931T>C (p.Ser311Pro)
c.961T>C (p.Ser321Pro)
c.724T>C (p.Ser242Pro)
c.1018T>C (p.Ser340Pro)
7g.50470138A>TCA367533509DDC,FIGNL1c.1075T>A (p.Ser359Thr)
c.841T>A (p.Ser281Thr)
c.717T>A
c.796T>A (p.Ser266Thr)
c.*176T>A (n.*176T>A)
n.231T>A
c.-10-22841T>A (n.-10-22841T>A)
c.931T>A (p.Ser311Thr)
c.961T>A (p.Ser321Thr)
c.724T>A (p.Ser242Thr)
c.1018T>A (p.Ser340Thr)
7g.50470139G>ACA454931770DDC,FIGNL1c.1074C>T (p.Arg358=)
c.840C>T (p.Arg280=)
c.716C>T
c.795C>T (p.Arg265=)
c.*175C>T (n.*175C>T)
n.230C>T
c.-10-22842C>T (n.-10-22842C>T)
c.930C>T (p.Arg310=)
c.960C>T (p.Arg320=)
c.723C>T (p.Arg241=)
c.1017C>T (p.Arg339=)
7g.50470139G>CCA454931771DDC,FIGNL1c.1074C>G (p.Arg358=)
c.840C>G (p.Arg280=)
c.716C>G
c.795C>G (p.Arg265=)
c.*175C>G (n.*175C>G)
n.230C>G
c.-10-22842C>G (n.-10-22842C>G)
c.930C>G (p.Arg310=)
c.960C>G (p.Arg320=)
c.723C>G (p.Arg241=)
c.1017C>G (p.Arg339=)
7g.50470139G=CA1706619851DDC,FIGNL1c.1074C= (p.Arg358=)
c.840C= (p.Arg280=)
c.716C=
c.795C= (p.Arg265=)
c.*175C= (n.*175C=)
n.230C=
c.-10-22842C= (n.-10-22842C=)
c.930C= (p.Arg310=)
c.960C= (p.Arg320=)
c.723C= (p.Arg241=)
c.1017C= (p.Arg339=)
7g.50470139G>TCA454931772DDC,FIGNL1c.1074C>A (p.Arg358=)
c.840C>A (p.Arg280=)
c.716C>A
c.795C>A (p.Arg265=)
c.*175C>A (n.*175C>A)
n.230C>A
c.-10-22842C>A (n.-10-22842C>A)
c.930C>A (p.Arg310=)
c.960C>A (p.Arg320=)
c.723C>A (p.Arg241=)
c.1017C>A (p.Arg339=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.50470140C>ACA367533514DDC,FIGNL1c.1073G>T (p.Arg358Leu)
c.839G>T (p.Arg280Leu)
c.715G>T
c.794G>T (p.Arg265Leu)
c.*174G>T (n.*174G>T)
n.229G>T
c.-10-22843G>T (n.-10-22843G>T)
c.929G>T (p.Arg310Leu)
c.959G>T (p.Arg320Leu)
c.722G>T (p.Arg241Leu)
c.1016G>T (p.Arg339Leu)
 gnomAD v4
7g.50470140C=CA1706619852DDC,FIGNL1c.1073G= (p.Arg358=)
c.839G= (p.Arg280=)
c.715G=
c.794G= (p.Arg265=)
c.*174G= (n.*174G=)
n.229G=
c.-10-22843G= (n.-10-22843G=)
c.929G= (p.Arg310=)
c.959G= (p.Arg320=)
c.722G= (p.Arg241=)
c.1016G= (p.Arg339=)
7g.50470140C>GCA367533512DDC,FIGNL1c.1073G>C (p.Arg358Pro)
c.839G>C (p.Arg280Pro)
c.715G>C
c.794G>C (p.Arg265Pro)
c.*174G>C (n.*174G>C)
n.229G>C
c.-10-22843G>C (n.-10-22843G>C)
c.929G>C (p.Arg310Pro)
c.959G>C (p.Arg320Pro)
c.722G>C (p.Arg241Pro)
c.1016G>C (p.Arg339Pro)
7g.50470140C>TCA4262068DDC,FIGNL1c.1073G>A (p.Arg358His)
c.839G>A (p.Arg280His)
c.715G>A
c.794G>A (p.Arg265His)
c.*174G>A (n.*174G>A)
n.229G>A
c.-10-22843G>A (n.-10-22843G>A)
c.929G>A (p.Arg310His)
c.959G>A (p.Arg320His)
c.722G>A (p.Arg241His)
c.1016G>A (p.Arg339His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50470141G>ACA367533517DDC,FIGNL1c.1072C>T (p.Arg358Cys)
c.838C>T (p.Arg280Cys)
c.714C>T
c.793C>T (p.Arg265Cys)
c.*173C>T (n.*173C>T)
n.228C>T
c.-10-22844C>T (n.-10-22844C>T)
c.928C>T (p.Arg310Cys)
c.958C>T (p.Arg320Cys)
c.721C>T (p.Arg241Cys)
c.1015C>T (p.Arg339Cys)
 ClinVar dbSNP gnomAD v4
7g.50470141G>CCA367533524DDC,FIGNL1c.1072C>G (p.Arg358Gly)
c.838C>G (p.Arg280Gly)
c.714C>G
c.793C>G (p.Arg265Gly)
c.*173C>G (n.*173C>G)
n.228C>G
c.-10-22844C>G (n.-10-22844C>G)
c.928C>G (p.Arg310Gly)
c.958C>G (p.Arg320Gly)
c.721C>G (p.Arg241Gly)
c.1015C>G (p.Arg339Gly)
7g.50470141G=CA1706619853DDC,FIGNL1c.1072C= (p.Arg358=)
c.838C= (p.Arg280=)
c.714C=
c.793C= (p.Arg265=)
c.*173C= (n.*173C=)
n.228C=
c.-10-22844C= (n.-10-22844C=)
c.928C= (p.Arg310=)
c.958C= (p.Arg320=)
c.721C= (p.Arg241=)
c.1015C= (p.Arg339=)
7g.50470141G>TCA367533519DDC,FIGNL1c.1072C>A (p.Arg358Ser)
c.838C>A (p.Arg280Ser)
c.714C>A
c.793C>A (p.Arg265Ser)
c.*173C>A (n.*173C>A)
n.228C>A
c.-10-22844C>A (n.-10-22844C>A)
c.928C>A (p.Arg310Ser)
c.958C>A (p.Arg320Ser)
c.721C>A (p.Arg241Ser)
c.1015C>A (p.Arg339Ser)
7g.50470142A>CCA367533529DDC,FIGNL1c.1071T>G (p.Phe357Leu)
c.837T>G (p.Phe279Leu)
c.713T>G
c.792T>G (p.Phe264Leu)
c.*172T>G (n.*172T>G)
n.227T>G
c.-10-22845T>G (n.-10-22845T>G)
c.927T>G (p.Phe309Leu)
c.957T>G (p.Phe319Leu)
c.720T>G (p.Phe240Leu)
c.1014T>G (p.Phe338Leu)
7g.50470142A>GCA454931774DDC,FIGNL1c.1071T>C (p.Phe357=)
c.837T>C (p.Phe279=)
c.713T>C
c.792T>C (p.Phe264=)
c.*172T>C (n.*172T>C)
n.227T>C
c.-10-22845T>C (n.-10-22845T>C)
c.927T>C (p.Phe309=)
c.957T>C (p.Phe319=)
c.720T>C (p.Phe240=)
c.1014T>C (p.Phe338=)
7g.50470142A>TCA367533530DDC,FIGNL1c.1071T>A (p.Phe357Leu)
c.837T>A (p.Phe279Leu)
c.713T>A
c.792T>A (p.Phe264Leu)
c.*172T>A (n.*172T>A)
n.227T>A
c.-10-22845T>A (n.-10-22845T>A)
c.927T>A (p.Phe309Leu)
c.957T>A (p.Phe319Leu)
c.720T>A (p.Phe240Leu)
c.1014T>A (p.Phe338Leu)
7g.50470143A>CCA367533531DDC,FIGNL1c.1070T>G (p.Phe357Cys)
c.836T>G (p.Phe279Cys)
c.712T>G
c.791T>G (p.Phe264Cys)
c.*171T>G (n.*171T>G)
n.226T>G
c.-10-22846T>G (n.-10-22846T>G)
c.926T>G (p.Phe309Cys)
c.956T>G (p.Phe319Cys)
c.719T>G (p.Phe240Cys)
c.1013T>G (p.Phe338Cys)
7g.50470143A>GCA367533536DDC,FIGNL1c.1070T>C (p.Phe357Ser)
c.836T>C (p.Phe279Ser)
c.712T>C
c.791T>C (p.Phe264Ser)
c.*171T>C (n.*171T>C)
n.226T>C
c.-10-22846T>C (n.-10-22846T>C)
c.926T>C (p.Phe309Ser)
c.956T>C (p.Phe319Ser)
c.719T>C (p.Phe240Ser)
c.1013T>C (p.Phe338Ser)
7g.50470143A>TCA367533538DDC,FIGNL1c.1070T>A (p.Phe357Tyr)
c.836T>A (p.Phe279Tyr)
c.712T>A
c.791T>A (p.Phe264Tyr)
c.*171T>A (n.*171T>A)
n.226T>A
c.-10-22846T>A (n.-10-22846T>A)
c.926T>A (p.Phe309Tyr)
c.956T>A (p.Phe319Tyr)
c.719T>A (p.Phe240Tyr)
c.1013T>A (p.Phe338Tyr)
7g.50470144A>CCA367533540DDC,FIGNL1c.1069T>G (p.Phe357Val)
c.835T>G (p.Phe279Val)
c.711T>G
c.790T>G (p.Phe264Val)
c.*170T>G (n.*170T>G)
n.225T>G
c.-10-22847T>G (n.-10-22847T>G)
c.925T>G (p.Phe309Val)
c.955T>G (p.Phe319Val)
c.718T>G (p.Phe240Val)
c.1012T>G (p.Phe338Val)
7g.50470144A>GCA367533541DDC,FIGNL1c.1069T>C (p.Phe357Leu)
c.835T>C (p.Phe279Leu)
c.711T>C
c.790T>C (p.Phe264Leu)
c.*170T>C (n.*170T>C)
n.225T>C
c.-10-22847T>C (n.-10-22847T>C)
c.925T>C (p.Phe309Leu)
c.955T>C (p.Phe319Leu)
c.718T>C (p.Phe240Leu)
c.1012T>C (p.Phe338Leu)
7g.50470144A>TCA367533544DDC,FIGNL1c.1069T>A (p.Phe357Ile)
c.835T>A (p.Phe279Ile)
c.711T>A
c.790T>A (p.Phe264Ile)
c.*170T>A (n.*170T>A)
n.225T>A
c.-10-22847T>A (n.-10-22847T>A)
c.925T>A (p.Phe309Ile)
c.955T>A (p.Phe319Ile)
c.718T>A (p.Phe240Ile)
c.1012T>A (p.Phe338Ile)
7g.50470145T>ACA367533546DDC,FIGNL1c.1068A>T (p.Arg356Ser)
c.834A>T (p.Arg278Ser)
c.710A>T
c.789A>T (p.Arg263Ser)
c.*169A>T (n.*169A>T)
n.224A>T
c.-10-22848A>T (n.-10-22848A>T)
c.924A>T (p.Arg308Ser)
c.954A>T (p.Arg318Ser)
c.717A>T (p.Arg239Ser)
c.1011A>T (p.Arg337Ser)
 COSMIC
7g.50470145T>CCA454931775DDC,FIGNL1c.1068A>G (p.Arg356=)
c.834A>G (p.Arg278=)
c.710A>G
c.789A>G (p.Arg263=)
c.*169A>G (n.*169A>G)
n.224A>G
c.-10-22848A>G (n.-10-22848A>G)
c.924A>G (p.Arg308=)
c.954A>G (p.Arg318=)
c.717A>G (p.Arg239=)
c.1011A>G (p.Arg337=)
7g.50470145T>GCA367533551DDC,FIGNL1c.1068A>C (p.Arg356Ser)
c.834A>C (p.Arg278Ser)
c.710A>C
c.789A>C (p.Arg263Ser)
c.*169A>C (n.*169A>C)
n.224A>C
c.-10-22848A>C (n.-10-22848A>C)
c.924A>C (p.Arg308Ser)
c.954A>C (p.Arg318Ser)
c.717A>C (p.Arg239Ser)
c.1011A>C (p.Arg337Ser)
 gnomAD v4
7g.50470148_50470150delCA2682808967DDC,FIGNL1c.1066_1068del (p.Arg356del)
c.832_834del (p.Arg278del)
c.708_710del
c.787_789del (p.Arg263del)
c.*167_*169del (n.*167_*169del)
n.222_224del
c.-10-22850_-10-22848del (n.-10-22850_-10-22848del)
c.922_924del (p.Arg308del)
c.952_954del (p.Arg318del)
c.715_717del (p.Arg239del)
c.1009_1011del (p.Arg337del)
 gnomAD v4
7g.50470146C>ACA367533567DDC,FIGNL1c.1067G>T (p.Arg356Ile)
c.833G>T (p.Arg278Ile)
c.709G>T
c.788G>T (p.Arg263Ile)
c.*168G>T (n.*168G>T)
n.223G>T
c.-10-22849G>T (n.-10-22849G>T)
c.923G>T (p.Arg308Ile)
c.953G>T (p.Arg318Ile)
c.716G>T (p.Arg239Ile)
c.1010G>T (p.Arg337Ile)
 ClinVar gnomAD v4 COSMIC
7g.50470146C>GCA367533565DDC,FIGNL1c.1067G>C (p.Arg356Thr)
c.833G>C (p.Arg278Thr)
c.709G>C
c.788G>C (p.Arg263Thr)
c.*168G>C (n.*168G>C)
n.223G>C
c.-10-22849G>C (n.-10-22849G>C)
c.923G>C (p.Arg308Thr)
c.953G>C (p.Arg318Thr)
c.716G>C (p.Arg239Thr)
c.1010G>C (p.Arg337Thr)
7g.50470146C>TCA367533555DDC,FIGNL1c.1067G>A (p.Arg356Lys)
c.833G>A (p.Arg278Lys)
c.709G>A
c.788G>A (p.Arg263Lys)
c.*168G>A (n.*168G>A)
n.223G>A
c.-10-22849G>A (n.-10-22849G>A)
c.923G>A (p.Arg308Lys)
c.953G>A (p.Arg318Lys)
c.716G>A (p.Arg239Lys)
c.1010G>A (p.Arg337Lys)

Number of alleles fetched