Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.50529178T>ACA2682812969DDC,FIGNL1c.570+30A>T (n.570+30A>T)
c.336+30A>T (n.336+30A>T)
c.213-898A>T
c.435+8682A>T (n.435+8682A>T)
c.456+30A>T (n.456+30A>T)
n.369+30A>T
c.-11+13340A>T (n.-11+13340A>T)
c.219+30A>T (n.219+30A>T)
c.513+30A>T (n.513+30A>T)
 gnomAD v4
7g.50529179C=CA1706649059DDC,FIGNL1c.570+29G= (n.570+29G=)
c.336+29G= (n.336+29G=)
c.213-899G=
c.435+8681G= (n.435+8681G=)
c.456+29G= (n.456+29G=)
n.369+29G=
c.-11+13339G= (n.-11+13339G=)
c.219+29G= (n.219+29G=)
c.513+29G= (n.513+29G=)
7g.50529179C>GCA574296895DDC,FIGNL1c.570+29G>C (n.570+29G>C)
c.336+29G>C (n.336+29G>C)
c.213-899G>C
c.435+8681G>C (n.435+8681G>C)
c.456+29G>C (n.456+29G>C)
n.369+29G>C
c.-11+13339G>C (n.-11+13339G>C)
c.219+29G>C (n.219+29G>C)
c.513+29G>C (n.513+29G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.50529181T>ACA2682812970DDC,FIGNL1c.570+27A>T (n.570+27A>T)
c.336+27A>T (n.336+27A>T)
c.213-901A>T
c.435+8679A>T (n.435+8679A>T)
c.456+27A>T (n.456+27A>T)
n.369+27A>T
c.-11+13337A>T (n.-11+13337A>T)
c.219+27A>T (n.219+27A>T)
c.513+27A>T (n.513+27A>T)
 gnomAD v4
7g.50529181T>CCA2682812971DDC,FIGNL1c.570+27A>G (n.570+27A>G)
c.336+27A>G (n.336+27A>G)
c.213-901A>G
c.435+8679A>G (n.435+8679A>G)
c.456+27A>G (n.456+27A>G)
n.369+27A>G
c.-11+13337A>G (n.-11+13337A>G)
c.219+27A>G (n.219+27A>G)
c.513+27A>G (n.513+27A>G)
 gnomAD v4
7g.50529184C>ACA1706649062DDC,FIGNL1c.570+24G>T (n.570+24G>T)
c.336+24G>T (n.336+24G>T)
c.213-904G>T
c.435+8676G>T (n.435+8676G>T)
c.456+24G>T (n.456+24G>T)
n.369+24G>T
c.-11+13334G>T (n.-11+13334G>T)
c.219+24G>T (n.219+24G>T)
c.513+24G>T (n.513+24G>T)
 dbSNP
7g.50529184C=CA1706649061DDC,FIGNL1c.570+24G= (n.570+24G=)
c.336+24G= (n.336+24G=)
c.213-904G=
c.435+8676G= (n.435+8676G=)
c.456+24G= (n.456+24G=)
n.369+24G=
c.-11+13334G= (n.-11+13334G=)
c.219+24G= (n.219+24G=)
c.513+24G= (n.513+24G=)
7g.50529185T>GCA2578891618DDC,FIGNL1c.570+23A>C (n.570+23A>C)
c.336+23A>C (n.336+23A>C)
c.213-905A>C
c.435+8675A>C (n.435+8675A>C)
c.456+23A>C (n.456+23A>C)
n.369+23A>C
c.-11+13333A>C (n.-11+13333A>C)
c.219+23A>C (n.219+23A>C)
c.513+23A>C (n.513+23A>C)
 gnomAD v4
7g.50529186G>ACA1706649064DDC,FIGNL1c.570+22C>T (n.570+22C>T)
c.336+22C>T (n.336+22C>T)
c.213-906C>T
c.435+8674C>T (n.435+8674C>T)
c.456+22C>T (n.456+22C>T)
n.369+22C>T
c.-11+13332C>T (n.-11+13332C>T)
c.219+22C>T (n.219+22C>T)
c.513+22C>T (n.513+22C>T)
 dbSNP
7g.50529186G=CA1706649063DDC,FIGNL1c.570+22C= (n.570+22C=)
c.336+22C= (n.336+22C=)
c.213-906C=
c.435+8674C= (n.435+8674C=)
c.456+22C= (n.456+22C=)
n.369+22C=
c.-11+13332C= (n.-11+13332C=)
c.219+22C= (n.219+22C=)
c.513+22C= (n.513+22C=)
7g.50529186G>TCA2682812972DDC,FIGNL1c.570+22C>A (n.570+22C>A)
c.336+22C>A (n.336+22C>A)
c.213-906C>A
c.435+8674C>A (n.435+8674C>A)
c.456+22C>A (n.456+22C>A)
n.369+22C>A
c.-11+13332C>A (n.-11+13332C>A)
c.219+22C>A (n.219+22C>A)
c.513+22C>A (n.513+22C>A)
 gnomAD v4
7g.50529188T>CCA2578891619DDC,FIGNL1c.570+20A>G (n.570+20A>G)
c.336+20A>G (n.336+20A>G)
c.213-908A>G
c.435+8672A>G (n.435+8672A>G)
c.456+20A>G (n.456+20A>G)
n.369+20A>G
c.-11+13330A>G (n.-11+13330A>G)
c.219+20A>G (n.219+20A>G)
c.513+20A>G (n.513+20A>G)
7g.50529189A=CA1706649065DDC,FIGNL1c.570+19T= (n.570+19T=)
c.336+19T= (n.336+19T=)
c.213-909T=
c.435+8671T= (n.435+8671T=)
c.456+19T= (n.456+19T=)
n.369+19T=
c.-11+13329T= (n.-11+13329T=)
c.219+19T= (n.219+19T=)
c.513+19T= (n.513+19T=)
7g.50529189A>GCA2682812973DDC,FIGNL1c.570+19T>C (n.570+19T>C)
c.336+19T>C (n.336+19T>C)
c.213-909T>C
c.435+8671T>C (n.435+8671T>C)
c.456+19T>C (n.456+19T>C)
n.369+19T>C
c.-11+13329T>C (n.-11+13329T>C)
c.219+19T>C (n.219+19T>C)
c.513+19T>C (n.513+19T>C)
 gnomAD v4
7g.50529190C>ACA4262336DDC,FIGNL1c.570+18G>T (n.570+18G>T)
c.336+18G>T (n.336+18G>T)
c.213-910G>T
c.435+8670G>T (n.435+8670G>T)
c.456+18G>T (n.456+18G>T)
n.369+18G>T
c.-11+13328G>T (n.-11+13328G>T)
c.219+18G>T (n.219+18G>T)
c.513+18G>T (n.513+18G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50529190C=CA1706649067DDC,FIGNL1c.570+18G= (n.570+18G=)
c.336+18G= (n.336+18G=)
c.213-910G=
c.435+8670G= (n.435+8670G=)
c.456+18G= (n.456+18G=)
n.369+18G=
c.-11+13328G= (n.-11+13328G=)
c.219+18G= (n.219+18G=)
c.513+18G= (n.513+18G=)
7g.50529190C>TCA1706649069DDC,FIGNL1c.570+18G>A (n.570+18G>A)
c.336+18G>A (n.336+18G>A)
c.213-910G>A
c.435+8670G>A (n.435+8670G>A)
c.456+18G>A (n.456+18G>A)
n.369+18G>A
c.-11+13328G>A (n.-11+13328G>A)
c.219+18G>A (n.219+18G>A)
c.513+18G>A (n.513+18G>A)
 dbSNP gnomAD v4
7g.50529194dupCA4262335DDC,FIGNL1c.570+18dup (n.570+18dup)
c.336+18dup (n.336+18dup)
c.213-910dup
c.435+8670dup (n.435+8670dup)
c.456+18dup (n.456+18dup)
n.369+18dup
c.-11+13328dup (n.-11+13328dup)
c.219+18dup (n.219+18dup)
c.513+18dup (n.513+18dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50529194delCA2578891620DDC,FIGNL1c.570+18del (n.570+18del)
c.336+18del (n.336+18del)
c.213-910del
c.435+8670del (n.435+8670del)
c.456+18del (n.456+18del)
n.369+18del
c.-11+13328del (n.-11+13328del)
c.219+18del (n.219+18del)
c.513+18del (n.513+18del)
 gnomAD v4
7g.50529191C>ACA2682812974DDC,FIGNL1c.570+17G>T (n.570+17G>T)
c.336+17G>T (n.336+17G>T)
c.213-911G>T
c.435+8669G>T (n.435+8669G>T)
c.456+17G>T (n.456+17G>T)
n.369+17G>T
c.-11+13327G>T (n.-11+13327G>T)
c.219+17G>T (n.219+17G>T)
c.513+17G>T (n.513+17G>T)
 gnomAD v4
7g.50529193C>ACA2775391439DDC,FIGNL1c.570+15G>T (n.570+15G>T)
c.336+15G>T (n.336+15G>T)
c.213-913G>T
c.435+8667G>T (n.435+8667G>T)
c.456+15G>T (n.456+15G>T)
n.369+15G>T
c.-11+13325G>T (n.-11+13325G>T)
c.219+15G>T (n.219+15G>T)
c.513+15G>T (n.513+15G>T)
7g.50529193C>GCA2578891621DDC,FIGNL1c.570+15G>C (n.570+15G>C)
c.336+15G>C (n.336+15G>C)
c.213-913G>C
c.435+8667G>C (n.435+8667G>C)
c.456+15G>C (n.456+15G>C)
n.369+15G>C
c.-11+13325G>C (n.-11+13325G>C)
c.219+15G>C (n.219+15G>C)
c.513+15G>C (n.513+15G>C)
7g.50529193C>TCA2682812975DDC,FIGNL1c.570+15G>A (n.570+15G>A)
c.336+15G>A (n.336+15G>A)
c.213-913G>A
c.435+8667G>A (n.435+8667G>A)
c.456+15G>A (n.456+15G>A)
n.369+15G>A
c.-11+13325G>A (n.-11+13325G>A)
c.219+15G>A (n.219+15G>A)
c.513+15G>A (n.513+15G>A)
 gnomAD v4
7g.50529194C=CA1706649072DDC,FIGNL1c.570+14G= (n.570+14G=)
c.336+14G= (n.336+14G=)
c.213-914G=
c.435+8666G= (n.435+8666G=)
c.456+14G= (n.456+14G=)
n.369+14G=
c.-11+13324G= (n.-11+13324G=)
c.219+14G= (n.219+14G=)
c.513+14G= (n.513+14G=)
7g.50529194C>GCA2682812976DDC,FIGNL1c.570+14G>C (n.570+14G>C)
c.336+14G>C (n.336+14G>C)
c.213-914G>C
c.435+8666G>C (n.435+8666G>C)
c.456+14G>C (n.456+14G>C)
n.369+14G>C
c.-11+13324G>C (n.-11+13324G>C)
c.219+14G>C (n.219+14G>C)
c.513+14G>C (n.513+14G>C)
 gnomAD v4
7g.50529194C>TCA158232910DDC,FIGNL1c.570+14G>A (n.570+14G>A)
c.336+14G>A (n.336+14G>A)
c.213-914G>A
c.435+8666G>A (n.435+8666G>A)
c.456+14G>A (n.456+14G>A)
n.369+14G>A
c.-11+13324G>A (n.-11+13324G>A)
c.219+14G>A (n.219+14G>A)
c.513+14G>A (n.513+14G>A)
 dbSNP gnomAD v4
7g.50529196C>ACA2682812977DDC,FIGNL1c.570+12G>T (n.570+12G>T)
c.336+12G>T (n.336+12G>T)
c.213-916G>T
c.435+8664G>T (n.435+8664G>T)
c.456+12G>T (n.456+12G>T)
n.369+12G>T
c.-11+13322G>T (n.-11+13322G>T)
c.219+12G>T (n.219+12G>T)
c.513+12G>T (n.513+12G>T)
 gnomAD v4
7g.50529196C=CA1706649074DDC,FIGNL1c.570+12G= (n.570+12G=)
c.336+12G= (n.336+12G=)
c.213-916G=
c.435+8664G= (n.435+8664G=)
c.456+12G= (n.456+12G=)
n.369+12G=
c.-11+13322G= (n.-11+13322G=)
c.219+12G= (n.219+12G=)
c.513+12G= (n.513+12G=)
7g.50529196C>TCA158232911DDC,FIGNL1c.570+12G>A (n.570+12G>A)
c.336+12G>A (n.336+12G>A)
c.213-916G>A
c.435+8664G>A (n.435+8664G>A)
c.456+12G>A (n.456+12G>A)
n.369+12G>A
c.-11+13322G>A (n.-11+13322G>A)
c.219+12G>A (n.219+12G>A)
c.513+12G>A (n.513+12G>A)
 dbSNP
7g.50529198dupCA839343693DDC,FIGNL1c.570+11dup (n.570+11dup)
c.336+11dup (n.336+11dup)
c.213-917dup
c.435+8663dup (n.435+8663dup)
c.456+11dup (n.456+11dup)
n.369+11dup
c.-11+13321dup (n.-11+13321dup)
c.219+11dup (n.219+11dup)
c.513+11dup (n.513+11dup)
 dbSNP gnomAD v3 gnomAD v4
7g.50529198A=CA1706649078DDC,FIGNL1c.570+10T= (n.570+10T=)
c.336+10T= (n.336+10T=)
c.213-918T=
c.435+8662T= (n.435+8662T=)
c.456+10T= (n.456+10T=)
n.369+10T=
c.-11+13320T= (n.-11+13320T=)
c.219+10T= (n.219+10T=)
c.513+10T= (n.513+10T=)
7g.50529198A>TCA574296901DDC,FIGNL1c.570+10T>A (n.570+10T>A)
c.336+10T>A (n.336+10T>A)
c.213-918T>A
c.435+8662T>A (n.435+8662T>A)
c.456+10T>A (n.456+10T>A)
n.369+10T>A
c.-11+13320T>A (n.-11+13320T>A)
c.219+10T>A (n.219+10T>A)
c.513+10T>A (n.513+10T>A)
 dbSNP gnomAD v2 gnomAD v4
7g.50529200A=CA1706649080DDC,FIGNL1c.570+8T= (n.570+8T=)
c.336+8T= (n.336+8T=)
c.213-920T=
c.435+8660T= (n.435+8660T=)
c.456+8T= (n.456+8T=)
n.369+8T=
c.-11+13318T= (n.-11+13318T=)
c.219+8T= (n.219+8T=)
c.513+8T= (n.513+8T=)
7g.50529200A>CCA574296902DDC,FIGNL1c.570+8T>G (n.570+8T>G)
c.336+8T>G (n.336+8T>G)
c.213-920T>G
c.435+8660T>G (n.435+8660T>G)
c.456+8T>G (n.456+8T>G)
n.369+8T>G
c.-11+13318T>G (n.-11+13318T>G)
c.219+8T>G (n.219+8T>G)
c.513+8T>G (n.513+8T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.50529200A>TCA2682812978DDC,FIGNL1c.570+8T>A (n.570+8T>A)
c.336+8T>A (n.336+8T>A)
c.213-920T>A
c.435+8660T>A (n.435+8660T>A)
c.456+8T>A (n.456+8T>A)
n.369+8T>A
c.-11+13318T>A (n.-11+13318T>A)
c.219+8T>A (n.219+8T>A)
c.513+8T>A (n.513+8T>A)
 gnomAD v4
7g.50529200_50529204delinsACACTCA1706649081DDC,FIGNL1c.570+4_570+8delinsAGTGT (n.570+4_570+8delinsAGTGT)
c.336+4_336+8delinsAGTGT (n.336+4_336+8delinsAGTGT)
c.213-924_213-920delinsAGTGT
c.435+8656_435+8660delinsAGTGT (n.435+8656_435+8660delinsAGTGT)
c.456+4_456+8delinsAGTGT (n.456+4_456+8delinsAGTGT)
n.369+4_369+8delinsAGTGT
c.-11+13314_-11+13318delinsAGTGT (n.-11+13314_-11+13318delinsAGTGT)
c.219+4_219+8delinsAGTGT (n.219+4_219+8delinsAGTGT)
c.513+4_513+8delinsAGTGT (n.513+4_513+8delinsAGTGT)
7g.50529204_50529207delCA839343703DDC,FIGNL1c.570+4_570+7del (n.570+4_570+7del)
c.336+4_336+7del (n.336+4_336+7del)
c.213-924_213-921del
c.435+8656_435+8659del (n.435+8656_435+8659del)
c.456+4_456+7del (n.456+4_456+7del)
n.369+4_369+7del
c.-11+13314_-11+13317del (n.-11+13314_-11+13317del)
c.219+4_219+7del (n.219+4_219+7del)
c.513+4_513+7del (n.513+4_513+7del)
 dbSNP gnomAD v3 gnomAD v4
7g.50529202A=CA1706649084DDC,FIGNL1c.570+6T= (n.570+6T=)
c.336+6T= (n.336+6T=)
c.213-922T=
c.435+8658T= (n.435+8658T=)
c.456+6T= (n.456+6T=)
n.369+6T=
c.-11+13316T= (n.-11+13316T=)
c.219+6T= (n.219+6T=)
c.513+6T= (n.513+6T=)
7g.50529202A>TCA574296903DDC,FIGNL1c.570+6T>A (n.570+6T>A)
c.336+6T>A (n.336+6T>A)
c.213-922T>A
c.435+8658T>A (n.435+8658T>A)
c.456+6T>A (n.456+6T>A)
n.369+6T>A
c.-11+13316T>A (n.-11+13316T>A)
c.219+6T>A (n.219+6T>A)
c.513+6T>A (n.513+6T>A)
 dbSNP gnomAD v2 gnomAD v4
7g.50529203C=CA1706649100DDC,FIGNL1c.570+5G= (n.570+5G=)
c.336+5G= (n.336+5G=)
c.213-923G=
c.435+8657G= (n.435+8657G=)
c.456+5G= (n.456+5G=)
n.369+5G=
c.-11+13315G= (n.-11+13315G=)
c.219+5G= (n.219+5G=)
c.513+5G= (n.513+5G=)
7g.50529203C>GCA2580077228DDC,FIGNL1c.570+5G>C (n.570+5G>C)
c.336+5G>C (n.336+5G>C)
c.213-923G>C
c.435+8657G>C (n.435+8657G>C)
c.456+5G>C (n.456+5G>C)
n.369+5G>C
c.-11+13315G>C (n.-11+13315G>C)
c.219+5G>C (n.219+5G>C)
c.513+5G>C (n.513+5G>C)
 ClinVar gnomAD v4
7g.50529203C>TCA1706649101DDC,FIGNL1c.570+5G>A (n.570+5G>A)
c.336+5G>A (n.336+5G>A)
c.213-923G>A
c.435+8657G>A (n.435+8657G>A)
c.456+5G>A (n.456+5G>A)
n.369+5G>A
c.-11+13315G>A (n.-11+13315G>A)
c.219+5G>A (n.219+5G>A)
c.513+5G>A (n.513+5G>A)
 dbSNP gnomAD v4
7g.50529206A>CCA367526595DDC,FIGNL1c.570+2T>G (n.570+2T>G)
c.336+2T>G (n.336+2T>G)
c.213-926T>G
c.435+8654T>G (n.435+8654T>G)
c.456+2T>G (n.456+2T>G)
n.369+2T>G
c.-11+13312T>G (n.-11+13312T>G)
c.219+2T>G (n.219+2T>G)
c.513+2T>G (n.513+2T>G)
7g.50529206A>GCA367526594DDC,FIGNL1c.570+2T>C (n.570+2T>C)
c.336+2T>C (n.336+2T>C)
c.213-926T>C
c.435+8654T>C (n.435+8654T>C)
c.456+2T>C (n.456+2T>C)
n.369+2T>C
c.-11+13312T>C (n.-11+13312T>C)
c.219+2T>C (n.219+2T>C)
c.513+2T>C (n.513+2T>C)
7g.50529206A>TCA367526593DDC,FIGNL1c.570+2T>A (n.570+2T>A)
c.336+2T>A (n.336+2T>A)
c.213-926T>A
c.435+8654T>A (n.435+8654T>A)
c.456+2T>A (n.456+2T>A)
n.369+2T>A
c.-11+13312T>A (n.-11+13312T>A)
c.219+2T>A (n.219+2T>A)
c.513+2T>A (n.513+2T>A)
7g.50529207C>ACA367526596DDC,FIGNL1c.570+1G>T (n.570+1G>T)
c.336+1G>T (n.336+1G>T)
c.213-927G>T
c.435+8653G>T (n.435+8653G>T)
c.456+1G>T (n.456+1G>T)
n.369+1G>T
c.-11+13311G>T (n.-11+13311G>T)
c.219+1G>T (n.219+1G>T)
c.513+1G>T (n.513+1G>T)
 gnomAD v4
7g.50529207C>GCA367526597DDC,FIGNL1c.570+1G>C (n.570+1G>C)
c.336+1G>C (n.336+1G>C)
c.213-927G>C
c.435+8653G>C (n.435+8653G>C)
c.456+1G>C (n.456+1G>C)
n.369+1G>C
c.-11+13311G>C (n.-11+13311G>C)
c.219+1G>C (n.219+1G>C)
c.513+1G>C (n.513+1G>C)
7g.50529207C>TCA367526598DDC,FIGNL1c.570+1G>A (n.570+1G>A)
c.336+1G>A (n.336+1G>A)
c.213-927G>A
c.435+8653G>A (n.435+8653G>A)
c.456+1G>A (n.456+1G>A)
n.369+1G>A
c.-11+13311G>A (n.-11+13311G>A)
c.219+1G>A (n.219+1G>A)
c.513+1G>A (n.513+1G>A)
7g.50529208C>ACA367526599DDC,FIGNL1c.570G>T (p.Gln190His)
c.336G>T (p.Gln112His)
c.213-928G>T
c.435+8652G>T (n.435+8652G>T)
c.456G>T (p.Gln152His)
n.369G>T
c.-11+13310G>T (n.-11+13310G>T)
c.219G>T (p.Gln73His)
c.513G>T (p.Gln171His)
 COSMIC COSMIC
7g.50529208C>GCA367526600DDC,FIGNL1c.570G>C (p.Gln190His)
c.336G>C (p.Gln112His)
c.213-928G>C
c.435+8652G>C (n.435+8652G>C)
c.456G>C (p.Gln152His)
n.369G>C
c.-11+13310G>C (n.-11+13310G>C)
c.219G>C (p.Gln73His)
c.513G>C (p.Gln171His)
7g.50529208C>TCA454937485DDC,FIGNL1c.570G>A (p.Gln190=)
c.336G>A (p.Gln112=)
c.213-928G>A
c.435+8652G>A (n.435+8652G>A)
c.456G>A (p.Gln152=)
n.369G>A
c.-11+13310G>A (n.-11+13310G>A)
c.219G>A (p.Gln73=)
c.513G>A (p.Gln171=)
7g.50529209T>ACA4262337DDC,FIGNL1c.569A>T (p.Gln190Leu)
c.335A>T (p.Gln112Leu)
c.213-929A>T
c.435+8651A>T (n.435+8651A>T)
c.455A>T (p.Gln152Leu)
n.368A>T
c.-11+13309A>T (n.-11+13309A>T)
c.218A>T (p.Gln73Leu)
c.512A>T (p.Gln171Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529209T>CCA367526601DDC,FIGNL1c.569A>G (p.Gln190Arg)
c.335A>G (p.Gln112Arg)
c.213-929A>G
c.435+8651A>G (n.435+8651A>G)
c.455A>G (p.Gln152Arg)
n.368A>G
c.-11+13309A>G (n.-11+13309A>G)
c.218A>G (p.Gln73Arg)
c.512A>G (p.Gln171Arg)
 gnomAD v4
7g.50529209T>GCA367526602DDC,FIGNL1c.569A>C (p.Gln190Pro)
c.335A>C (p.Gln112Pro)
c.213-929A>C
c.435+8651A>C (n.435+8651A>C)
c.455A>C (p.Gln152Pro)
n.368A>C
c.-11+13309A>C (n.-11+13309A>C)
c.218A>C (p.Gln73Pro)
c.512A>C (p.Gln171Pro)
7g.50529209T=CA1706649105DDC,FIGNL1c.569A= (p.Gln190=)
c.335A= (p.Gln112=)
c.213-929A=
c.435+8651A= (n.435+8651A=)
c.455A= (p.Gln152=)
n.368A=
c.-11+13309A= (n.-11+13309A=)
c.218A= (p.Gln73=)
c.512A= (p.Gln171=)
7g.50529209_50529210insATCGCA2026154274DDC,FIGNL1c.568_569insCGAT (p.Gln190ProfsTer?)
c.334_335insCGAT (p.Gln112ProfsTer?)
c.213-930_213-929insCGAT
c.435+8650_435+8651insCGAT (n.435+8650_435+8651insCGAT)
c.454_455insCGAT (p.Gln152ProfsTer?)
n.367_368insCGAT
c.-11+13308_-11+13309insCGAT (n.-11+13308_-11+13309insCGAT)
c.568_569insCGAT (p.Gln190ProfsTer16)
c.217_218insCGAT (p.Gln73ProfsTer?)
c.511_512insCGAT (p.Gln171ProfsTer?)
7g.50529210G>ACA367526603DDC,FIGNL1c.568C>T (p.Gln190Ter)
c.334C>T (p.Gln112Ter)
c.213-930C>T
c.435+8650C>T (n.435+8650C>T)
c.454C>T (p.Gln152Ter)
n.367C>T
c.-11+13308C>T (n.-11+13308C>T)
c.217C>T (p.Gln73Ter)
c.511C>T (p.Gln171Ter)
 ClinVar dbSNP
7g.50529210G>CCA367526604DDC,FIGNL1c.568C>G (p.Gln190Glu)
c.334C>G (p.Gln112Glu)
c.213-930C>G
c.435+8650C>G (n.435+8650C>G)
c.454C>G (p.Gln152Glu)
n.367C>G
c.-11+13308C>G (n.-11+13308C>G)
c.217C>G (p.Gln73Glu)
c.511C>G (p.Gln171Glu)
7g.50529210G>TCA367526605DDC,FIGNL1c.568C>A (p.Gln190Lys)
c.334C>A (p.Gln112Lys)
c.213-930C>A
c.435+8650C>A (n.435+8650C>A)
c.454C>A (p.Gln152Lys)
n.367C>A
c.-11+13308C>A (n.-11+13308C>A)
c.217C>A (p.Gln73Lys)
c.511C>A (p.Gln171Lys)
7g.50529213_50529217dupCA1706649109DDC,FIGNL1c.564_568dup (p.Gln190ProfsTer13)
c.330_334dup (p.Gln112ProfsTer13)
c.213-934_213-930dup
c.435+8646_435+8650dup (n.435+8646_435+8650dup)
c.450_454dup (p.Gln152ProfsTer13)
n.363_367dup
c.-11+13304_-11+13308dup (n.-11+13304_-11+13308dup)
c.564_568dup (p.Gln190ProfsTer20)
c.213_217dup (p.Gln73ProfsTer13)
c.507_511dup (p.Gln171ProfsTer13)
 ClinVar dbSNP
7g.50529211A>CCA367526606DDC,FIGNL1c.567T>G (p.Asp189Glu)
c.333T>G (p.Asp111Glu)
c.213-931T>G
c.435+8649T>G (n.435+8649T>G)
c.453T>G (p.Asp151Glu)
n.366T>G
c.-11+13307T>G (n.-11+13307T>G)
c.216T>G (p.Asp72Glu)
c.510T>G (p.Asp170Glu)
7g.50529211A>GCA454937486DDC,FIGNL1c.567T>C (p.Asp189=)
c.333T>C (p.Asp111=)
c.213-931T>C
c.435+8649T>C (n.435+8649T>C)
c.453T>C (p.Asp151=)
n.366T>C
c.-11+13307T>C (n.-11+13307T>C)
c.216T>C (p.Asp72=)
c.510T>C (p.Asp170=)
7g.50529211A>TCA367526607DDC,FIGNL1c.567T>A (p.Asp189Glu)
c.333T>A (p.Asp111Glu)
c.213-931T>A
c.435+8649T>A (n.435+8649T>A)
c.453T>A (p.Asp151Glu)
n.366T>A
c.-11+13307T>A (n.-11+13307T>A)
c.216T>A (p.Asp72Glu)
c.510T>A (p.Asp170Glu)
7g.50529212T>ACA367526609DDC,FIGNL1c.566A>T (p.Asp189Val)
c.332A>T (p.Asp111Val)
c.213-932A>T
c.435+8648A>T (n.435+8648A>T)
c.452A>T (p.Asp151Val)
n.365A>T
c.-11+13306A>T (n.-11+13306A>T)
c.215A>T (p.Asp72Val)
c.509A>T (p.Asp170Val)
 gnomAD v4
7g.50529212T>CCA367526610DDC,FIGNL1c.566A>G (p.Asp189Gly)
c.332A>G (p.Asp111Gly)
c.213-932A>G
c.435+8648A>G (n.435+8648A>G)
c.452A>G (p.Asp151Gly)
n.365A>G
c.-11+13306A>G (n.-11+13306A>G)
c.215A>G (p.Asp72Gly)
c.509A>G (p.Asp170Gly)
7g.50529212T>GCA367526608DDC,FIGNL1c.566A>C (p.Asp189Ala)
c.332A>C (p.Asp111Ala)
c.213-932A>C
c.435+8648A>C (n.435+8648A>C)
c.452A>C (p.Asp151Ala)
n.365A>C
c.-11+13306A>C (n.-11+13306A>C)
c.215A>C (p.Asp72Ala)
c.509A>C (p.Asp170Ala)
7g.50529213C>ACA367526612DDC,FIGNL1c.565G>T (p.Asp189Tyr)
c.331G>T (p.Asp111Tyr)
c.213-933G>T
c.435+8647G>T (n.435+8647G>T)
c.451G>T (p.Asp151Tyr)
n.364G>T
c.-11+13305G>T (n.-11+13305G>T)
c.214G>T (p.Asp72Tyr)
c.508G>T (p.Asp170Tyr)
7g.50529213C=CA1706649117DDC,FIGNL1c.565G= (p.Asp189=)
c.331G= (p.Asp111=)
c.213-933G=
c.435+8647G= (n.435+8647G=)
c.451G= (p.Asp151=)
n.364G=
c.-11+13305G= (n.-11+13305G=)
c.214G= (p.Asp72=)
c.508G= (p.Asp170=)
7g.50529213C>GCA4262338DDC,FIGNL1c.565G>C (p.Asp189His)
c.331G>C (p.Asp111His)
c.213-933G>C
c.435+8647G>C (n.435+8647G>C)
c.451G>C (p.Asp151His)
n.364G>C
c.-11+13305G>C (n.-11+13305G>C)
c.214G>C (p.Asp72His)
c.508G>C (p.Asp170His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529213C>TCA367526611DDC,FIGNL1c.565G>A (p.Asp189Asn)
c.331G>A (p.Asp111Asn)
c.213-933G>A
c.435+8647G>A (n.435+8647G>A)
c.451G>A (p.Asp151Asn)
n.364G>A
c.-11+13305G>A (n.-11+13305G>A)
c.214G>A (p.Asp72Asn)
c.508G>A (p.Asp170Asn)
 dbSNP gnomAD v2 gnomAD v4
7g.50529214G>ACA4262339DDC,FIGNL1c.564C>T (p.Ser188=)
c.330C>T (p.Ser110=)
c.213-934C>T
c.435+8646C>T (n.435+8646C>T)
c.450C>T (p.Ser150=)
n.363C>T
c.-11+13304C>T (n.-11+13304C>T)
c.213C>T (p.Ser71=)
c.507C>T (p.Ser169=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.50529214G>CCA454937488DDC,FIGNL1c.564C>G (p.Ser188=)
c.330C>G (p.Ser110=)
c.213-934C>G
c.435+8646C>G (n.435+8646C>G)
c.450C>G (p.Ser150=)
n.363C>G
c.-11+13304C>G (n.-11+13304C>G)
c.213C>G (p.Ser71=)
c.507C>G (p.Ser169=)
7g.50529214G=CA1706649126DDC,FIGNL1c.564C= (p.Ser188=)
c.330C= (p.Ser110=)
c.213-934C=
c.435+8646C= (n.435+8646C=)
c.450C= (p.Ser150=)
n.363C=
c.-11+13304C= (n.-11+13304C=)
c.213C= (p.Ser71=)
c.507C= (p.Ser169=)
7g.50529214G>TCA454937487DDC,FIGNL1c.564C>A (p.Ser188=)
c.330C>A (p.Ser110=)
c.213-934C>A
c.435+8646C>A (n.435+8646C>A)
c.450C>A (p.Ser150=)
n.363C>A
c.-11+13304C>A (n.-11+13304C>A)
c.213C>A (p.Ser71=)
c.507C>A (p.Ser169=)
7g.50529215G>ACA367526613DDC,FIGNL1c.563C>T (p.Ser188Phe)
c.329C>T (p.Ser110Phe)
c.213-935C>T
c.435+8645C>T (n.435+8645C>T)
c.449C>T (p.Ser150Phe)
n.362C>T
c.-11+13303C>T (n.-11+13303C>T)
c.212C>T (p.Ser71Phe)
c.506C>T (p.Ser169Phe)
7g.50529215G>CCA367526614DDC,FIGNL1c.563C>G (p.Ser188Cys)
c.329C>G (p.Ser110Cys)
c.213-935C>G
c.435+8645C>G (n.435+8645C>G)
c.449C>G (p.Ser150Cys)
n.362C>G
c.-11+13303C>G (n.-11+13303C>G)
c.212C>G (p.Ser71Cys)
c.506C>G (p.Ser169Cys)
7g.50529215G=CA1706649130DDC,FIGNL1c.563C= (p.Ser188=)
c.329C= (p.Ser110=)
c.213-935C=
c.435+8645C= (n.435+8645C=)
c.449C= (p.Ser150=)
n.362C=
c.-11+13303C= (n.-11+13303C=)
c.212C= (p.Ser71=)
c.506C= (p.Ser169=)
7g.50529215G>TCA367526615DDC,FIGNL1c.563C>A (p.Ser188Tyr)
c.329C>A (p.Ser110Tyr)
c.213-935C>A
c.435+8645C>A (n.435+8645C>A)
c.449C>A (p.Ser150Tyr)
n.362C>A
c.-11+13303C>A (n.-11+13303C>A)
c.212C>A (p.Ser71Tyr)
c.506C>A (p.Ser169Tyr)
 dbSNP
7g.50529216A>CCA367526616DDC,FIGNL1c.562T>G (p.Ser188Ala)
c.328T>G (p.Ser110Ala)
c.213-936T>G
c.435+8644T>G (n.435+8644T>G)
c.448T>G (p.Ser150Ala)
n.361T>G
c.-11+13302T>G (n.-11+13302T>G)
c.211T>G (p.Ser71Ala)
c.505T>G (p.Ser169Ala)
7g.50529216A>GCA367526617DDC,FIGNL1c.562T>C (p.Ser188Pro)
c.328T>C (p.Ser110Pro)
c.213-936T>C
c.435+8644T>C (n.435+8644T>C)
c.448T>C (p.Ser150Pro)
n.361T>C
c.-11+13302T>C (n.-11+13302T>C)
c.211T>C (p.Ser71Pro)
c.505T>C (p.Ser169Pro)
7g.50529216A>TCA367526618DDC,FIGNL1c.562T>A (p.Ser188Thr)
c.328T>A (p.Ser110Thr)
c.213-936T>A
c.435+8644T>A (n.435+8644T>A)
c.448T>A (p.Ser150Thr)
n.361T>A
c.-11+13302T>A (n.-11+13302T>A)
c.211T>A (p.Ser71Thr)
c.505T>A (p.Ser169Thr)
7g.50529217T>ACA454937489DDC,FIGNL1c.561A>T (p.Ser187=)
c.327A>T (p.Ser109=)
c.213-937A>T
c.435+8643A>T (n.435+8643A>T)
c.447A>T (p.Ser149=)
n.360A>T
c.-11+13301A>T (n.-11+13301A>T)
c.210A>T (p.Ser70=)
c.504A>T (p.Ser168=)
7g.50529217T>CCA4262340DDC,FIGNL1c.561A>G (p.Ser187=)
c.327A>G (p.Ser109=)
c.213-937A>G
c.435+8643A>G (n.435+8643A>G)
c.447A>G (p.Ser149=)
n.360A>G
c.-11+13301A>G (n.-11+13301A>G)
c.210A>G (p.Ser70=)
c.504A>G (p.Ser168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529217T>GCA454937490DDC,FIGNL1c.561A>C (p.Ser187=)
c.327A>C (p.Ser109=)
c.213-937A>C
c.435+8643A>C (n.435+8643A>C)
c.447A>C (p.Ser149=)
n.360A>C
c.-11+13301A>C (n.-11+13301A>C)
c.210A>C (p.Ser70=)
c.504A>C (p.Ser168=)
 dbSNP
7g.50529217T=CA1706649134DDC,FIGNL1c.561A= (p.Ser187=)
c.327A= (p.Ser109=)
c.213-937A=
c.435+8643A= (n.435+8643A=)
c.447A= (p.Ser149=)
n.360A=
c.-11+13301A= (n.-11+13301A=)
c.210A= (p.Ser70=)
c.504A= (p.Ser168=)
7g.50529218G>ACA367526619DDC,FIGNL1c.560C>T (p.Ser187Leu)
c.326C>T (p.Ser109Leu)
c.213-938C>T
c.435+8642C>T (n.435+8642C>T)
c.446C>T (p.Ser149Leu)
n.359C>T
c.-11+13300C>T (n.-11+13300C>T)
c.209C>T (p.Ser70Leu)
c.503C>T (p.Ser168Leu)
 COSMIC COSMIC
7g.50529218G>CCA367526620DDC,FIGNL1c.560C>G (p.Ser187Ter)
c.326C>G (p.Ser109Ter)
c.213-938C>G
c.435+8642C>G (n.435+8642C>G)
c.446C>G (p.Ser149Ter)
n.359C>G
c.-11+13300C>G (n.-11+13300C>G)
c.209C>G (p.Ser70Ter)
c.503C>G (p.Ser168Ter)
7g.50529218G>TCA367526621DDC,FIGNL1c.560C>A (p.Ser187Ter)
c.326C>A (p.Ser109Ter)
c.213-938C>A
c.435+8642C>A (n.435+8642C>A)
c.446C>A (p.Ser149Ter)
n.359C>A
c.-11+13300C>A (n.-11+13300C>A)
c.209C>A (p.Ser70Ter)
c.503C>A (p.Ser168Ter)
7g.50529219A>CCA367526622DDC,FIGNL1c.559T>G (p.Ser187Ala)
c.325T>G (p.Ser109Ala)
c.213-939T>G
c.435+8641T>G (n.435+8641T>G)
c.445T>G (p.Ser149Ala)
n.358T>G
c.-11+13299T>G (n.-11+13299T>G)
c.208T>G (p.Ser70Ala)
c.502T>G (p.Ser168Ala)
7g.50529219A>GCA367526624DDC,FIGNL1c.559T>C (p.Ser187Pro)
c.325T>C (p.Ser109Pro)
c.213-939T>C
c.435+8641T>C (n.435+8641T>C)
c.445T>C (p.Ser149Pro)
n.358T>C
c.-11+13299T>C (n.-11+13299T>C)
c.208T>C (p.Ser70Pro)
c.502T>C (p.Ser168Pro)
7g.50529219A>TCA367526623DDC,FIGNL1c.559T>A (p.Ser187Thr)
c.325T>A (p.Ser109Thr)
c.213-939T>A
c.435+8641T>A (n.435+8641T>A)
c.445T>A (p.Ser149Thr)
n.358T>A
c.-11+13299T>A (n.-11+13299T>A)
c.208T>A (p.Ser70Thr)
c.502T>A (p.Ser168Thr)
7g.50529220G>ACA454937491DDC,FIGNL1c.558C>T (p.Tyr186=)
c.324C>T (p.Tyr108=)
c.213-940C>T
c.435+8640C>T (n.435+8640C>T)
c.444C>T (p.Tyr148=)
n.357C>T
c.-11+13298C>T (n.-11+13298C>T)
c.207C>T (p.Tyr69=)
c.501C>T (p.Tyr167=)
 gnomAD v4
7g.50529220G>CCA367526625DDC,FIGNL1c.558C>G (p.Tyr186Ter)
c.324C>G (p.Tyr108Ter)
c.213-940C>G
c.435+8640C>G (n.435+8640C>G)
c.444C>G (p.Tyr148Ter)
n.357C>G
c.-11+13298C>G (n.-11+13298C>G)
c.207C>G (p.Tyr69Ter)
c.501C>G (p.Tyr167Ter)
7g.50529220G>TCA367526626DDC,FIGNL1c.558C>A (p.Tyr186Ter)
c.324C>A (p.Tyr108Ter)
c.213-940C>A
c.435+8640C>A (n.435+8640C>A)
c.444C>A (p.Tyr148Ter)
n.357C>A
c.-11+13298C>A (n.-11+13298C>A)
c.207C>A (p.Tyr69Ter)
c.501C>A (p.Tyr167Ter)
7g.50529221T>ACA367526627DDC,FIGNL1c.557A>T (p.Tyr186Phe)
c.323A>T (p.Tyr108Phe)
c.213-941A>T
c.435+8639A>T (n.435+8639A>T)
c.443A>T (p.Tyr148Phe)
n.356A>T
c.-11+13297A>T (n.-11+13297A>T)
c.206A>T (p.Tyr69Phe)
c.500A>T (p.Tyr167Phe)
7g.50529221T>CCA367526628DDC,FIGNL1c.557A>G (p.Tyr186Cys)
c.323A>G (p.Tyr108Cys)
c.213-941A>G
c.435+8639A>G (n.435+8639A>G)
c.443A>G (p.Tyr148Cys)
n.356A>G
c.-11+13297A>G (n.-11+13297A>G)
c.206A>G (p.Tyr69Cys)
c.500A>G (p.Tyr167Cys)
7g.50529221T>GCA367526629DDC,FIGNL1c.557A>C (p.Tyr186Ser)
c.323A>C (p.Tyr108Ser)
c.213-941A>C
c.435+8639A>C (n.435+8639A>C)
c.443A>C (p.Tyr148Ser)
n.356A>C
c.-11+13297A>C (n.-11+13297A>C)
c.206A>C (p.Tyr69Ser)
c.500A>C (p.Tyr167Ser)
7g.50529222A>CCA367526630DDC,FIGNL1c.556T>G (p.Tyr186Asp)
c.322T>G (p.Tyr108Asp)
c.213-942T>G
c.435+8638T>G (n.435+8638T>G)
c.442T>G (p.Tyr148Asp)
n.355T>G
c.-11+13296T>G (n.-11+13296T>G)
c.205T>G (p.Tyr69Asp)
c.499T>G (p.Tyr167Asp)
7g.50529222A>GCA367526631DDC,FIGNL1c.556T>C (p.Tyr186His)
c.322T>C (p.Tyr108His)
c.213-942T>C
c.435+8638T>C (n.435+8638T>C)
c.442T>C (p.Tyr148His)
n.355T>C
c.-11+13296T>C (n.-11+13296T>C)
c.205T>C (p.Tyr69His)
c.499T>C (p.Tyr167His)
7g.50529222A>TCA367526632DDC,FIGNL1c.556T>A (p.Tyr186Asn)
c.322T>A (p.Tyr108Asn)
c.213-942T>A
c.435+8638T>A (n.435+8638T>A)
c.442T>A (p.Tyr148Asn)
n.355T>A
c.-11+13296T>A (n.-11+13296T>A)
c.205T>A (p.Tyr69Asn)
c.499T>A (p.Tyr167Asn)
7g.50529223A>CCA454937492DDC,FIGNL1c.555T>G (p.Ala185=)
c.321T>G (p.Ala107=)
c.213-943T>G
c.435+8637T>G (n.435+8637T>G)
c.441T>G (p.Ala147=)
n.354T>G
c.-11+13295T>G (n.-11+13295T>G)
c.204T>G (p.Ala68=)
c.498T>G (p.Ala166=)
7g.50529223A>GCA454937493DDC,FIGNL1c.555T>C (p.Ala185=)
c.321T>C (p.Ala107=)
c.213-943T>C
c.435+8637T>C (n.435+8637T>C)
c.441T>C (p.Ala147=)
n.354T>C
c.-11+13295T>C (n.-11+13295T>C)
c.204T>C (p.Ala68=)
c.498T>C (p.Ala166=)
 gnomAD v4
7g.50529223A>TCA454937494DDC,FIGNL1c.555T>A (p.Ala185=)
c.321T>A (p.Ala107=)
c.213-943T>A
c.435+8637T>A (n.435+8637T>A)
c.441T>A (p.Ala147=)
n.354T>A
c.-11+13295T>A (n.-11+13295T>A)
c.204T>A (p.Ala68=)
c.498T>A (p.Ala166=)
7g.50529224G>ACA367526633DDC,FIGNL1c.554C>T (p.Ala185Val)
c.320C>T (p.Ala107Val)
c.213-944C>T
c.435+8636C>T (n.435+8636C>T)
c.440C>T (p.Ala147Val)
n.353C>T
c.-11+13294C>T (n.-11+13294C>T)
c.203C>T (p.Ala68Val)
c.497C>T (p.Ala166Val)
 COSMIC COSMIC
7g.50529224G>CCA367526634DDC,FIGNL1c.554C>G (p.Ala185Gly)
c.320C>G (p.Ala107Gly)
c.213-944C>G
c.435+8636C>G (n.435+8636C>G)
c.440C>G (p.Ala147Gly)
n.353C>G
c.-11+13294C>G (n.-11+13294C>G)
c.203C>G (p.Ala68Gly)
c.497C>G (p.Ala166Gly)
7g.50529224G>TCA367526635DDC,FIGNL1c.554C>A (p.Ala185Asp)
c.320C>A (p.Ala107Asp)
c.213-944C>A
c.435+8636C>A (n.435+8636C>A)
c.440C>A (p.Ala147Asp)
n.353C>A
c.-11+13294C>A (n.-11+13294C>A)
c.203C>A (p.Ala68Asp)
c.497C>A (p.Ala166Asp)
7g.50529225C>ACA367526637DDC,FIGNL1c.553G>T (p.Ala185Ser)
c.319G>T (p.Ala107Ser)
c.213-945G>T
c.435+8635G>T (n.435+8635G>T)
c.439G>T (p.Ala147Ser)
n.352G>T
c.-11+13293G>T (n.-11+13293G>T)
c.202G>T (p.Ala68Ser)
c.496G>T (p.Ala166Ser)
7g.50529225C>GCA367526638DDC,FIGNL1c.553G>C (p.Ala185Pro)
c.319G>C (p.Ala107Pro)
c.213-945G>C
c.435+8635G>C (n.435+8635G>C)
c.439G>C (p.Ala147Pro)
n.352G>C
c.-11+13293G>C (n.-11+13293G>C)
c.202G>C (p.Ala68Pro)
c.496G>C (p.Ala166Pro)
7g.50529225C>TCA367526636DDC,FIGNL1c.553G>A (p.Ala185Thr)
c.319G>A (p.Ala107Thr)
c.213-945G>A
c.435+8635G>A (n.435+8635G>A)
c.439G>A (p.Ala147Thr)
n.352G>A
c.-11+13293G>A (n.-11+13293G>A)
c.202G>A (p.Ala68Thr)
c.496G>A (p.Ala166Thr)
 ClinVar gnomAD v4 COSMIC COSMIC
7g.50529226C>ACA454937495DDC,FIGNL1c.552G>T (p.Val184=)
c.318G>T (p.Val106=)
c.213-946G>T
c.435+8634G>T (n.435+8634G>T)
c.438G>T (p.Val146=)
n.351G>T
c.-11+13292G>T (n.-11+13292G>T)
c.201G>T (p.Val67=)
c.495G>T (p.Val165=)
7g.50529226C>GCA454937496DDC,FIGNL1c.552G>C (p.Val184=)
c.318G>C (p.Val106=)
c.213-946G>C
c.435+8634G>C (n.435+8634G>C)
c.438G>C (p.Val146=)
n.351G>C
c.-11+13292G>C (n.-11+13292G>C)
c.201G>C (p.Val67=)
c.495G>C (p.Val165=)
7g.50529226C>TCA454937497DDC,FIGNL1c.552G>A (p.Val184=)
c.318G>A (p.Val106=)
c.213-946G>A
c.435+8634G>A (n.435+8634G>A)
c.438G>A (p.Val146=)
n.351G>A
c.-11+13292G>A (n.-11+13292G>A)
c.201G>A (p.Val67=)
c.495G>A (p.Val165=)
 COSMIC COSMIC
7g.50529227A>CCA367526639DDC,FIGNL1c.551T>G (p.Val184Gly)
c.317T>G (p.Val106Gly)
c.213-947T>G
c.435+8633T>G (n.435+8633T>G)
c.437T>G (p.Val146Gly)
n.350T>G
c.-11+13291T>G (n.-11+13291T>G)
c.200T>G (p.Val67Gly)
c.494T>G (p.Val165Gly)
7g.50529227A>GCA367526640DDC,FIGNL1c.551T>C (p.Val184Ala)
c.317T>C (p.Val106Ala)
c.213-947T>C
c.435+8633T>C (n.435+8633T>C)
c.437T>C (p.Val146Ala)
n.350T>C
c.-11+13291T>C (n.-11+13291T>C)
c.200T>C (p.Val67Ala)
c.494T>C (p.Val165Ala)
 COSMIC COSMIC
7g.50529227A>TCA367526641DDC,FIGNL1c.551T>A (p.Val184Glu)
c.317T>A (p.Val106Glu)
c.213-947T>A
c.435+8633T>A (n.435+8633T>A)
c.437T>A (p.Val146Glu)
n.350T>A
c.-11+13291T>A (n.-11+13291T>A)
c.200T>A (p.Val67Glu)
c.494T>A (p.Val165Glu)
7g.50529228C>ACA367526642DDC,FIGNL1c.550G>T (p.Val184Leu)
c.316G>T (p.Val106Leu)
c.213-948G>T
c.435+8632G>T (n.435+8632G>T)
c.436G>T (p.Val146Leu)
n.349G>T
c.-11+13290G>T (n.-11+13290G>T)
c.199G>T (p.Val67Leu)
c.493G>T (p.Val165Leu)
 dbSNP
7g.50529228C=CA1706649142DDC,FIGNL1c.550G= (p.Val184=)
c.316G= (p.Val106=)
c.213-948G=
c.435+8632G= (n.435+8632G=)
c.436G= (p.Val146=)
n.349G=
c.-11+13290G= (n.-11+13290G=)
c.199G= (p.Val67=)
c.493G= (p.Val165=)
7g.50529228C>GCA4262341DDC,FIGNL1c.550G>C (p.Val184Leu)
c.316G>C (p.Val106Leu)
c.213-948G>C
c.435+8632G>C (n.435+8632G>C)
c.436G>C (p.Val146Leu)
n.349G>C
c.-11+13290G>C (n.-11+13290G>C)
c.199G>C (p.Val67Leu)
c.493G>C (p.Val165Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.50529228C>TCA367526643DDC,FIGNL1c.550G>A (p.Val184Met)
c.316G>A (p.Val106Met)
c.213-948G>A
c.435+8632G>A (n.435+8632G>A)
c.436G>A (p.Val146Met)
n.349G>A
c.-11+13290G>A (n.-11+13290G>A)
c.199G>A (p.Val67Met)
c.493G>A (p.Val165Met)
7g.50529229C>ACA454937498DDC,FIGNL1c.549G>T (p.Leu183=)
c.315G>T (p.Leu105=)
c.213-949G>T
c.435+8631G>T (n.435+8631G>T)
c.435G>T (p.Leu145=)
n.348G>T
c.-11+13289G>T (n.-11+13289G>T)
c.198G>T (p.Leu66=)
c.492G>T (p.Leu164=)
7g.50529229C>GCA454937499DDC,FIGNL1c.549G>C (p.Leu183=)
c.315G>C (p.Leu105=)
c.213-949G>C
c.435+8631G>C (n.435+8631G>C)
c.435G>C (p.Leu145=)
n.348G>C
c.-11+13289G>C (n.-11+13289G>C)
c.198G>C (p.Leu66=)
c.492G>C (p.Leu164=)
7g.50529229C>TCA454937500DDC,FIGNL1c.549G>A (p.Leu183=)
c.315G>A (p.Leu105=)
c.213-949G>A
c.435+8631G>A (n.435+8631G>A)
c.435G>A (p.Leu145=)
n.348G>A
c.-11+13289G>A (n.-11+13289G>A)
c.198G>A (p.Leu66=)
c.492G>A (p.Leu164=)
7g.50529230A=CA1706649144DDC,FIGNL1c.548T= (p.Leu183=)
c.314T= (p.Leu105=)
c.213-950T=
c.435+8630T= (n.435+8630T=)
c.434T= (p.Leu145=)
n.347T=
c.-11+13288T= (n.-11+13288T=)
c.197T= (p.Leu66=)
c.491T= (p.Leu164=)
7g.50529230A>CCA367526644DDC,FIGNL1c.548T>G (p.Leu183Arg)
c.314T>G (p.Leu105Arg)
c.213-950T>G
c.435+8630T>G (n.435+8630T>G)
c.434T>G (p.Leu145Arg)
n.347T>G
c.-11+13288T>G (n.-11+13288T>G)
c.197T>G (p.Leu66Arg)
c.491T>G (p.Leu164Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.50529230A>GCA367526645DDC,FIGNL1c.548T>C (p.Leu183Pro)
c.314T>C (p.Leu105Pro)
c.213-950T>C
c.435+8630T>C (n.435+8630T>C)
c.434T>C (p.Leu145Pro)
n.347T>C
c.-11+13288T>C (n.-11+13288T>C)
c.197T>C (p.Leu66Pro)
c.491T>C (p.Leu164Pro)
7g.50529230A>TCA367526646DDC,FIGNL1c.548T>A (p.Leu183Gln)
c.314T>A (p.Leu105Gln)
c.213-950T>A
c.435+8630T>A (n.435+8630T>A)
c.434T>A (p.Leu145Gln)
n.347T>A
c.-11+13288T>A (n.-11+13288T>A)
c.197T>A (p.Leu66Gln)
c.491T>A (p.Leu164Gln)
7g.50529231G>ACA454937501DDC,FIGNL1c.547C>T (p.Leu183=)
c.313C>T (p.Leu105=)
c.213-951C>T
c.435+8629C>T (n.435+8629C>T)
c.433C>T (p.Leu145=)
n.346C>T
c.-11+13287C>T (n.-11+13287C>T)
c.196C>T (p.Leu66=)
c.490C>T (p.Leu164=)
7g.50529231G>CCA367526647DDC,FIGNL1c.547C>G (p.Leu183Val)
c.313C>G (p.Leu105Val)
c.213-951C>G
c.435+8629C>G (n.435+8629C>G)
c.433C>G (p.Leu145Val)
n.346C>G
c.-11+13287C>G (n.-11+13287C>G)
c.196C>G (p.Leu66Val)
c.490C>G (p.Leu164Val)
 gnomAD v4
7g.50529231G>TCA367526648DDC,FIGNL1c.547C>A (p.Leu183Met)
c.313C>A (p.Leu105Met)
c.213-951C>A
c.435+8629C>A (n.435+8629C>A)
c.433C>A (p.Leu145Met)
n.346C>A
c.-11+13287C>A (n.-11+13287C>A)
c.196C>A (p.Leu66Met)
c.490C>A (p.Leu164Met)
7g.50529232C>ACA367526649DDC,FIGNL1c.546G>T (p.Lys182Asn)
c.312G>T (p.Lys104Asn)
c.213-952G>T
c.435+8628G>T (n.435+8628G>T)
c.432G>T (p.Lys144Asn)
n.345G>T
c.-11+13286G>T (n.-11+13286G>T)
c.195G>T (p.Lys65Asn)
c.489G>T (p.Lys163Asn)
7g.50529232C>GCA367526650DDC,FIGNL1c.546G>C (p.Lys182Asn)
c.312G>C (p.Lys104Asn)
c.213-952G>C
c.435+8628G>C (n.435+8628G>C)
c.432G>C (p.Lys144Asn)
n.345G>C
c.-11+13286G>C (n.-11+13286G>C)
c.195G>C (p.Lys65Asn)
c.489G>C (p.Lys163Asn)
7g.50529232C>TCA454937502DDC,FIGNL1c.546G>A (p.Lys182=)
c.312G>A (p.Lys104=)
c.213-952G>A
c.435+8628G>A (n.435+8628G>A)
c.432G>A (p.Lys144=)
n.345G>A
c.-11+13286G>A (n.-11+13286G>A)
c.195G>A (p.Lys65=)
c.489G>A (p.Lys163=)
7g.50529233T>ACA367526653DDC,FIGNL1c.545A>T (p.Lys182Met)
c.311A>T (p.Lys104Met)
c.213-953A>T
c.435+8627A>T (n.435+8627A>T)
c.431A>T (p.Lys144Met)
n.344A>T
c.-11+13285A>T (n.-11+13285A>T)
c.194A>T (p.Lys65Met)
c.488A>T (p.Lys163Met)
7g.50529233T>CCA367526652DDC,FIGNL1c.545A>G (p.Lys182Arg)
c.311A>G (p.Lys104Arg)
c.213-953A>G
c.435+8627A>G (n.435+8627A>G)
c.431A>G (p.Lys144Arg)
n.344A>G
c.-11+13285A>G (n.-11+13285A>G)
c.194A>G (p.Lys65Arg)
c.488A>G (p.Lys163Arg)
7g.50529233T>GCA367526651DDC,FIGNL1c.545A>C (p.Lys182Thr)
c.311A>C (p.Lys104Thr)
c.213-953A>C
c.435+8627A>C (n.435+8627A>C)
c.431A>C (p.Lys144Thr)
n.344A>C
c.-11+13285A>C (n.-11+13285A>C)
c.194A>C (p.Lys65Thr)
c.488A>C (p.Lys163Thr)
7g.50529234T>ACA367526654DDC,FIGNL1c.544A>T (p.Lys182Ter)
c.310A>T (p.Lys104Ter)
c.213-954A>T
c.435+8626A>T (n.435+8626A>T)
c.430A>T (p.Lys144Ter)
n.343A>T
c.-11+13284A>T (n.-11+13284A>T)
c.193A>T (p.Lys65Ter)
c.487A>T (p.Lys163Ter)
7g.50529234T>CCA367526655DDC,FIGNL1c.544A>G (p.Lys182Glu)
c.310A>G (p.Lys104Glu)
c.213-954A>G
c.435+8626A>G (n.435+8626A>G)
c.430A>G (p.Lys144Glu)
n.343A>G
c.-11+13284A>G (n.-11+13284A>G)
c.193A>G (p.Lys65Glu)
c.487A>G (p.Lys163Glu)
7g.50529234T>GCA367526656DDC,FIGNL1c.544A>C (p.Lys182Gln)
c.310A>C (p.Lys104Gln)
c.213-954A>C
c.435+8626A>C (n.435+8626A>C)
c.430A>C (p.Lys144Gln)
n.343A>C
c.-11+13284A>C (n.-11+13284A>C)
c.193A>C (p.Lys65Gln)
c.487A>C (p.Lys163Gln)
7g.50529235C>ACA367526657DDC,FIGNL1c.543G>T (p.Glu181Asp)
c.309G>T (p.Glu103Asp)
c.213-955G>T
c.435+8625G>T (n.435+8625G>T)
c.429G>T (p.Glu143Asp)
n.342G>T
c.-11+13283G>T (n.-11+13283G>T)
c.192G>T (p.Glu64Asp)
c.486G>T (p.Glu162Asp)
7g.50529235C>GCA367526658DDC,FIGNL1c.543G>C (p.Glu181Asp)
c.309G>C (p.Glu103Asp)
c.213-955G>C
c.435+8625G>C (n.435+8625G>C)
c.429G>C (p.Glu143Asp)
n.342G>C
c.-11+13283G>C (n.-11+13283G>C)
c.192G>C (p.Glu64Asp)
c.486G>C (p.Glu162Asp)
7g.50529235C>TCA454937503DDC,FIGNL1c.543G>A (p.Glu181=)
c.309G>A (p.Glu103=)
c.213-955G>A
c.435+8625G>A (n.435+8625G>A)
c.429G>A (p.Glu143=)
n.342G>A
c.-11+13283G>A (n.-11+13283G>A)
c.192G>A (p.Glu64=)
c.486G>A (p.Glu162=)
 COSMIC COSMIC
7g.50529236T>ACA367526659DDC,FIGNL1c.542A>T (p.Glu181Val)
c.308A>T (p.Glu103Val)
c.213-956A>T
c.435+8624A>T (n.435+8624A>T)
c.428A>T (p.Glu143Val)
n.341A>T
c.-11+13282A>T (n.-11+13282A>T)
c.191A>T (p.Glu64Val)
c.485A>T (p.Glu162Val)
7g.50529236T>CCA367526660DDC,FIGNL1c.542A>G (p.Glu181Gly)
c.308A>G (p.Glu103Gly)
c.213-956A>G
c.435+8624A>G (n.435+8624A>G)
c.428A>G (p.Glu143Gly)
n.341A>G
c.-11+13282A>G (n.-11+13282A>G)
c.191A>G (p.Glu64Gly)
c.485A>G (p.Glu162Gly)
7g.50529236T>GCA367526661DDC,FIGNL1c.542A>C (p.Glu181Ala)
c.308A>C (p.Glu103Ala)
c.213-956A>C
c.435+8624A>C (n.435+8624A>C)
c.428A>C (p.Glu143Ala)
n.341A>C
c.-11+13282A>C (n.-11+13282A>C)
c.191A>C (p.Glu64Ala)
c.485A>C (p.Glu162Ala)
7g.50529237C>ACA367526662DDC,FIGNL1c.541G>T (p.Glu181Ter)
c.307G>T (p.Glu103Ter)
c.213-957G>T
c.435+8623G>T (n.435+8623G>T)
c.427G>T (p.Glu143Ter)
n.340G>T
c.-11+13281G>T (n.-11+13281G>T)
c.190G>T (p.Glu64Ter)
c.484G>T (p.Glu162Ter)
7g.50529237C>GCA367526663DDC,FIGNL1c.541G>C (p.Glu181Gln)
c.307G>C (p.Glu103Gln)
c.213-957G>C
c.435+8623G>C (n.435+8623G>C)
c.427G>C (p.Glu143Gln)
n.340G>C
c.-11+13281G>C (n.-11+13281G>C)
c.190G>C (p.Glu64Gln)
c.484G>C (p.Glu162Gln)
7g.50529237C>TCA367526664DDC,FIGNL1c.541G>A (p.Glu181Lys)
c.307G>A (p.Glu103Lys)
c.213-957G>A
c.435+8623G>A (n.435+8623G>A)
c.427G>A (p.Glu143Lys)
n.340G>A
c.-11+13281G>A (n.-11+13281G>A)
c.190G>A (p.Glu64Lys)
c.484G>A (p.Glu162Lys)
7g.50529238C>ACA367526665DDC,FIGNL1c.540G>T (p.Met180Ile)
c.306G>T (p.Met102Ile)
c.213-958G>T
c.435+8622G>T (n.435+8622G>T)
c.426G>T (p.Met142Ile)
n.339G>T
c.-11+13280G>T (n.-11+13280G>T)
c.189G>T (p.Met63Ile)
c.483G>T (p.Met161Ile)
7g.50529238C>GCA367526666DDC,FIGNL1c.540G>C (p.Met180Ile)
c.306G>C (p.Met102Ile)
c.213-958G>C
c.435+8622G>C (n.435+8622G>C)
c.426G>C (p.Met142Ile)
n.339G>C
c.-11+13280G>C (n.-11+13280G>C)
c.189G>C (p.Met63Ile)
c.483G>C (p.Met161Ile)
7g.50529238C>TCA367526667DDC,FIGNL1c.540G>A (p.Met180Ile)
c.306G>A (p.Met102Ile)
c.213-958G>A
c.435+8622G>A (n.435+8622G>A)
c.426G>A (p.Met142Ile)
n.339G>A
c.-11+13280G>A (n.-11+13280G>A)
c.189G>A (p.Met63Ile)
c.483G>A (p.Met161Ile)
7g.50529239A>CCA367526669DDC,FIGNL1c.539T>G (p.Met180Arg)
c.305T>G (p.Met102Arg)
c.213-959T>G
c.435+8621T>G (n.435+8621T>G)
c.425T>G (p.Met142Arg)
n.338T>G
c.-11+13279T>G (n.-11+13279T>G)
c.188T>G (p.Met63Arg)
c.482T>G (p.Met161Arg)
 gnomAD v4
7g.50529239A>GCA367526670DDC,FIGNL1c.539T>C (p.Met180Thr)
c.305T>C (p.Met102Thr)
c.213-959T>C
c.435+8621T>C (n.435+8621T>C)
c.425T>C (p.Met142Thr)
n.338T>C
c.-11+13279T>C (n.-11+13279T>C)
c.188T>C (p.Met63Thr)
c.482T>C (p.Met161Thr)
7g.50529239A>TCA367526668DDC,FIGNL1c.539T>A (p.Met180Lys)
c.305T>A (p.Met102Lys)
c.213-959T>A
c.435+8621T>A (n.435+8621T>A)
c.425T>A (p.Met142Lys)
n.338T>A
c.-11+13279T>A (n.-11+13279T>A)
c.188T>A (p.Met63Lys)
c.482T>A (p.Met161Lys)
7g.50529240T>ACA367526672DDC,FIGNL1c.538A>T (p.Met180Leu)
c.304A>T (p.Met102Leu)
c.213-960A>T
c.435+8620A>T (n.435+8620A>T)
c.424A>T (p.Met142Leu)
n.337A>T
c.-11+13278A>T (n.-11+13278A>T)
c.187A>T (p.Met63Leu)
c.481A>T (p.Met161Leu)
7g.50529240T>CCA367526671DDC,FIGNL1c.538A>G (p.Met180Val)
c.304A>G (p.Met102Val)
c.213-960A>G
c.435+8620A>G (n.435+8620A>G)
c.424A>G (p.Met142Val)
n.337A>G
c.-11+13278A>G (n.-11+13278A>G)
c.187A>G (p.Met63Val)
c.481A>G (p.Met161Val)
 ClinVar dbSNP gnomAD v4
7g.50529240T>GCA367526673DDC,FIGNL1c.538A>C (p.Met180Leu)
c.304A>C (p.Met102Leu)
c.213-960A>C
c.435+8620A>C (n.435+8620A>C)
c.424A>C (p.Met142Leu)
n.337A>C
c.-11+13278A>C (n.-11+13278A>C)
c.187A>C (p.Met63Leu)
c.481A>C (p.Met161Leu)
 gnomAD v4 COSMIC COSMIC
7g.50529241G>ACA454937504DDC,FIGNL1c.537C>T (p.Ile179=)
c.303C>T (p.Ile101=)
c.213-961C>T
c.435+8619C>T (n.435+8619C>T)
c.423C>T (p.Ile141=)
n.336C>T
c.-11+13277C>T (n.-11+13277C>T)
c.186C>T (p.Ile62=)
c.480C>T (p.Ile160=)
 COSMIC COSMIC
7g.50529241G>CCA367526674DDC,FIGNL1c.537C>G (p.Ile179Met)
c.303C>G (p.Ile101Met)
c.213-961C>G
c.435+8619C>G (n.435+8619C>G)
c.423C>G (p.Ile141Met)
n.336C>G
c.-11+13277C>G (n.-11+13277C>G)
c.186C>G (p.Ile62Met)
c.480C>G (p.Ile160Met)
 gnomAD v4
7g.50529241G>TCA454937505DDC,FIGNL1c.537C>A (p.Ile179=)
c.303C>A (p.Ile101=)
c.213-961C>A
c.435+8619C>A (n.435+8619C>A)
c.423C>A (p.Ile141=)
n.336C>A
c.-11+13277C>A (n.-11+13277C>A)
c.186C>A (p.Ile62=)
c.480C>A (p.Ile160=)
7g.50529242A>CCA367526677DDC,FIGNL1c.536T>G (p.Ile179Ser)
c.302T>G (p.Ile101Ser)
c.213-962T>G
c.435+8618T>G (n.435+8618T>G)
c.422T>G (p.Ile141Ser)
n.335T>G
c.-11+13276T>G (n.-11+13276T>G)
c.185T>G (p.Ile62Ser)
c.479T>G (p.Ile160Ser)
7g.50529242A>GCA367526675DDC,FIGNL1c.536T>C (p.Ile179Thr)
c.302T>C (p.Ile101Thr)
c.213-962T>C
c.435+8618T>C (n.435+8618T>C)
c.422T>C (p.Ile141Thr)
n.335T>C
c.-11+13276T>C (n.-11+13276T>C)
c.185T>C (p.Ile62Thr)
c.479T>C (p.Ile160Thr)
7g.50529242A>TCA367526676DDC,FIGNL1c.536T>A (p.Ile179Asn)
c.302T>A (p.Ile101Asn)
c.213-962T>A
c.435+8618T>A (n.435+8618T>A)
c.422T>A (p.Ile141Asn)
n.335T>A
c.-11+13276T>A (n.-11+13276T>A)
c.185T>A (p.Ile62Asn)
c.479T>A (p.Ile160Asn)
7g.50529243T>ACA367526678DDC,FIGNL1c.535A>T (p.Ile179Phe)
c.301A>T (p.Ile101Phe)
c.213-963A>T
c.435+8617A>T (n.435+8617A>T)
c.421A>T (p.Ile141Phe)
n.334A>T
c.-11+13275A>T (n.-11+13275A>T)
c.184A>T (p.Ile62Phe)
c.478A>T (p.Ile160Phe)
7g.50529243T>CCA367526679DDC,FIGNL1c.535A>G (p.Ile179Val)
c.301A>G (p.Ile101Val)
c.213-963A>G
c.435+8617A>G (n.435+8617A>G)
c.421A>G (p.Ile141Val)
n.334A>G
c.-11+13275A>G (n.-11+13275A>G)
c.184A>G (p.Ile62Val)
c.478A>G (p.Ile160Val)
 dbSNP gnomAD v2 gnomAD v4
7g.50529243T>GCA10629251DDC,FIGNL1c.535A>C (p.Ile179Leu)
c.301A>C (p.Ile101Leu)
c.213-963A>C
c.435+8617A>C (n.435+8617A>C)
c.421A>C (p.Ile141Leu)
n.334A>C
c.-11+13275A>C (n.-11+13275A>C)
c.184A>C (p.Ile62Leu)
c.478A>C (p.Ile160Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.50529243T=CA1706649148DDC,FIGNL1c.535A= (p.Ile179=)
c.301A= (p.Ile101=)
c.213-963A=
c.435+8617A= (n.435+8617A=)
c.421A= (p.Ile141=)
n.334A=
c.-11+13275A= (n.-11+13275A=)
c.184A= (p.Ile62=)
c.478A= (p.Ile160=)
7g.50529244A>CCA454937506DDC,FIGNL1c.534T>G (p.Ala178=)
c.300T>G (p.Ala100=)
c.213-964T>G
c.435+8616T>G (n.435+8616T>G)
c.420T>G (p.Ala140=)
n.333T>G
c.-11+13274T>G (n.-11+13274T>G)
c.183T>G (p.Ala61=)
c.477T>G (p.Ala159=)
7g.50529244A>GCA454937507DDC,FIGNL1c.534T>C (p.Ala178=)
c.300T>C (p.Ala100=)
c.213-964T>C
c.435+8616T>C (n.435+8616T>C)
c.420T>C (p.Ala140=)
n.333T>C
c.-11+13274T>C (n.-11+13274T>C)
c.183T>C (p.Ala61=)
c.477T>C (p.Ala159=)
7g.50529244A>TCA454937508DDC,FIGNL1c.534T>A (p.Ala178=)
c.300T>A (p.Ala100=)
c.213-964T>A
c.435+8616T>A (n.435+8616T>A)
c.420T>A (p.Ala140=)
n.333T>A
c.-11+13274T>A (n.-11+13274T>A)
c.183T>A (p.Ala61=)
c.477T>A (p.Ala159=)
7g.50529245G>ACA158232912DDC,FIGNL1c.533C>T (p.Ala178Val)
c.299C>T (p.Ala100Val)
c.213-965C>T
c.435+8615C>T (n.435+8615C>T)
c.419C>T (p.Ala140Val)
n.332C>T
c.-11+13273C>T (n.-11+13273C>T)
c.182C>T (p.Ala61Val)
c.476C>T (p.Ala159Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.50529245G>CCA367526680DDC,FIGNL1c.533C>G (p.Ala178Gly)
c.299C>G (p.Ala100Gly)
c.213-965C>G
c.435+8615C>G (n.435+8615C>G)
c.419C>G (p.Ala140Gly)
n.332C>G
c.-11+13273C>G (n.-11+13273C>G)
c.182C>G (p.Ala61Gly)
c.476C>G (p.Ala159Gly)
7g.50529245G=CA1706649155DDC,FIGNL1c.533C= (p.Ala178=)
c.299C= (p.Ala100=)
c.213-965C=
c.435+8615C= (n.435+8615C=)
c.419C= (p.Ala140=)
n.332C=
c.-11+13273C= (n.-11+13273C=)
c.182C= (p.Ala61=)
c.476C= (p.Ala159=)
7g.50529245G>TCA4262342DDC,FIGNL1c.533C>A (p.Ala178Asp)
c.299C>A (p.Ala100Asp)
c.213-965C>A
c.435+8615C>A (n.435+8615C>A)
c.419C>A (p.Ala140Asp)
n.332C>A
c.-11+13273C>A (n.-11+13273C>A)
c.182C>A (p.Ala61Asp)
c.476C>A (p.Ala159Asp)
 ClinVar dbSNP ExAC gnomAD v4
7g.50529246C>ACA367526681DDC,FIGNL1c.532G>T (p.Ala178Ser)
c.298G>T (p.Ala100Ser)
c.213-966G>T
c.435+8614G>T (n.435+8614G>T)
c.418G>T (p.Ala140Ser)
n.331G>T
c.-11+13272G>T (n.-11+13272G>T)
c.181G>T (p.Ala61Ser)
c.475G>T (p.Ala159Ser)
 dbSNP
7g.50529246C=CA1706649157DDC,FIGNL1c.532G= (p.Ala178=)
c.298G= (p.Ala100=)
c.213-966G=
c.435+8614G= (n.435+8614G=)
c.418G= (p.Ala140=)
n.331G=
c.-11+13272G= (n.-11+13272G=)
c.181G= (p.Ala61=)
c.475G= (p.Ala159=)
7g.50529246C>GCA367526682DDC,FIGNL1c.532G>C (p.Ala178Pro)
c.298G>C (p.Ala100Pro)
c.213-966G>C
c.435+8614G>C (n.435+8614G>C)
c.418G>C (p.Ala140Pro)
n.331G>C
c.-11+13272G>C (n.-11+13272G>C)
c.181G>C (p.Ala61Pro)
c.475G>C (p.Ala159Pro)
7g.50529246C>TCA367526683DDC,FIGNL1c.532G>A (p.Ala178Thr)
c.298G>A (p.Ala100Thr)
c.213-966G>A
c.435+8614G>A (n.435+8614G>A)
c.418G>A (p.Ala140Thr)
n.331G>A
c.-11+13272G>A (n.-11+13272G>A)
c.181G>A (p.Ala61Thr)
c.475G>A (p.Ala159Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.50529247G>ACA4262343DDC,FIGNL1c.531C>T (p.Ala177=)
c.297C>T (p.Ala99=)
c.213-967C>T
c.435+8613C>T (n.435+8613C>T)
c.417C>T (p.Ala139=)
n.330C>T
c.-11+13271C>T (n.-11+13271C>T)
c.180C>T (p.Ala60=)
c.474C>T (p.Ala158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.50529247G>CCA454937509DDC,FIGNL1c.531C>G (p.Ala177=)
c.297C>G (p.Ala99=)
c.213-967C>G
c.435+8613C>G (n.435+8613C>G)
c.417C>G (p.Ala139=)
n.330C>G
c.-11+13271C>G (n.-11+13271C>G)
c.180C>G (p.Ala60=)
c.474C>G (p.Ala158=)
 ClinVar
7g.50529247G=CA1706649160DDC,FIGNL1c.531C= (p.Ala177=)
c.297C= (p.Ala99=)
c.213-967C=
c.435+8613C= (n.435+8613C=)
c.417C= (p.Ala139=)
n.330C=
c.-11+13271C= (n.-11+13271C=)
c.180C= (p.Ala60=)
c.474C= (p.Ala158=)
7g.50529247G>TCA454937510DDC,FIGNL1c.531C>A (p.Ala177=)
c.297C>A (p.Ala99=)
c.213-967C>A
c.435+8613C>A (n.435+8613C>A)
c.417C>A (p.Ala139=)
n.330C>A
c.-11+13271C>A (n.-11+13271C>A)
c.180C>A (p.Ala60=)
c.474C>A (p.Ala158=)
 COSMIC COSMIC
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)

Number of alleles fetched