Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.50529181T>A | CA2682812970 | DDC,FIGNL1 | c.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 |
7 | g.50529181T>C | CA2682812971 | DDC,FIGNL1 | c.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 |
7 | g.50529184C>A | CA1706649062 | DDC,FIGNL1 | c.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 |
7 | g.50529184C= | CA1706649061 | DDC,FIGNL1 | c.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=) | |
7 | g.50529185T>G | CA2578891618 | DDC,FIGNL1 | c.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 |
7 | g.50529186G>A | CA1706649064 | DDC,FIGNL1 | c.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 |
7 | g.50529186G= | CA1706649063 | DDC,FIGNL1 | c.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=) | |
7 | g.50529186G>T | CA2682812972 | DDC,FIGNL1 | c.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 |
7 | g.50529188T>C | CA2578891619 | DDC,FIGNL1 | c.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) | |
7 | g.50529189A= | CA1706649065 | DDC,FIGNL1 | c.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=) | |
7 | g.50529189A>G | CA2682812973 | DDC,FIGNL1 | c.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 |
7 | g.50529190C>A | CA4262336 | DDC,FIGNL1 | c.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 |
7 | g.50529190C= | CA1706649067 | DDC,FIGNL1 | c.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=) | |
7 | g.50529190C>T | CA1706649069 | DDC,FIGNL1 | c.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 |
7 | g.50529194dup | CA4262335 | DDC,FIGNL1 | c.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 |
7 | g.50529194del | CA2578891620 | DDC,FIGNL1 | c.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 |
7 | g.50529191C>A | CA2682812974 | DDC,FIGNL1 | c.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 |
7 | g.50529193C>A | CA2775391439 | DDC,FIGNL1 | c.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) | |
7 | g.50529193C>G | CA2578891621 | DDC,FIGNL1 | c.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) | |
7 | g.50529193C>T | CA2682812975 | DDC,FIGNL1 | c.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 |
7 | g.50529194C= | CA1706649072 | DDC,FIGNL1 | c.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=) | |
7 | g.50529194C>G | CA2682812976 | DDC,FIGNL1 | c.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 |
7 | g.50529194C>T | CA158232910 | DDC,FIGNL1 | c.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 |
7 | g.50529196C>A | CA2682812977 | DDC,FIGNL1 | c.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 |
7 | g.50529196C= | CA1706649074 | DDC,FIGNL1 | c.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=) | |
7 | g.50529196C>T | CA158232911 | DDC,FIGNL1 | c.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 |
7 | g.50529198dup | CA839343693 | DDC,FIGNL1 | c.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 |
7 | g.50529198A= | CA1706649078 | DDC,FIGNL1 | c.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=) | |
7 | g.50529198A>T | CA574296901 | DDC,FIGNL1 | c.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 |
7 | g.50529200A= | CA1706649080 | DDC,FIGNL1 | c.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=) | |
7 | g.50529200A>C | CA574296902 | DDC,FIGNL1 | c.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 |
7 | g.50529200A>T | CA2682812978 | DDC,FIGNL1 | c.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 |
7 | g.50529200_50529204delinsACACT | CA1706649081 | DDC,FIGNL1 | c.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) | |
7 | g.50529204_50529207del | CA839343703 | DDC,FIGNL1 | c.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 |
7 | g.50529202A= | CA1706649084 | DDC,FIGNL1 | c.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=) | |
7 | g.50529202A>T | CA574296903 | DDC,FIGNL1 | c.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 |
7 | g.50529203C= | CA1706649100 | DDC,FIGNL1 | c.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=) | |
7 | g.50529203C>G | CA2580077228 | DDC,FIGNL1 | c.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 |
7 | g.50529203C>T | CA1706649101 | DDC,FIGNL1 | c.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 |
7 | g.50529206A>C | CA367526595 | DDC,FIGNL1 | c.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) | |
7 | g.50529206A>G | CA367526594 | DDC,FIGNL1 | c.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) | |
7 | g.50529206A>T | CA367526593 | DDC,FIGNL1 | c.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) | |
7 | g.50529207C>A | CA367526596 | DDC,FIGNL1 | c.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 |
7 | g.50529207C>G | CA367526597 | DDC,FIGNL1 | c.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) | |
7 | g.50529207C>T | CA367526598 | DDC,FIGNL1 | c.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) | |
7 | g.50529208C>A | CA367526599 | DDC,FIGNL1 | c.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 |
7 | g.50529208C>G | CA367526600 | DDC,FIGNL1 | c.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) | |
7 | g.50529208C>T | CA454937485 | DDC,FIGNL1 | c.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=) | |
7 | g.50529209T>A | CA4262337 | DDC,FIGNL1 | c.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 |
7 | g.50529209T>C | CA367526601 | DDC,FIGNL1 | c.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 |
7 | g.50529209T>G | CA367526602 | DDC,FIGNL1 | c.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) | |
7 | g.50529209T= | CA1706649105 | DDC,FIGNL1 | c.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=) | |
7 | g.50529209_50529210insATCG | CA2026154274 | DDC,FIGNL1 | c.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?) | |
7 | g.50529210G>A | CA367526603 | DDC,FIGNL1 | c.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 |
7 | g.50529210G>C | CA367526604 | DDC,FIGNL1 | c.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) | |
7 | g.50529210G>T | CA367526605 | DDC,FIGNL1 | c.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) | |
7 | g.50529213_50529217dup | CA1706649109 | DDC,FIGNL1 | c.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 |
7 | g.50529211A>C | CA367526606 | DDC,FIGNL1 | c.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) | |
7 | g.50529211A>G | CA454937486 | DDC,FIGNL1 | c.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=) | |
7 | g.50529211A>T | CA367526607 | DDC,FIGNL1 | c.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) | |
7 | g.50529212T>A | CA367526609 | DDC,FIGNL1 | c.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 |
7 | g.50529212T>C | CA367526610 | DDC,FIGNL1 | c.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) | |
7 | g.50529212T>G | CA367526608 | DDC,FIGNL1 | c.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) | |
7 | g.50529213C>A | CA367526612 | DDC,FIGNL1 | c.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) | |
7 | g.50529213C= | CA1706649117 | DDC,FIGNL1 | c.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=) | |
7 | g.50529213C>G | CA4262338 | DDC,FIGNL1 | c.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 |
7 | g.50529213C>T | CA367526611 | DDC,FIGNL1 | c.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 |
7 | g.50529214G>A | CA4262339 | DDC,FIGNL1 | c.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 |
7 | g.50529214G>C | CA454937488 | DDC,FIGNL1 | c.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=) | |
7 | g.50529214G= | CA1706649126 | DDC,FIGNL1 | c.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=) | |
7 | g.50529214G>T | CA454937487 | DDC,FIGNL1 | c.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=) | |
7 | g.50529215G>A | CA367526613 | DDC,FIGNL1 | c.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) | |
7 | g.50529215G>C | CA367526614 | DDC,FIGNL1 | c.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) | |
7 | g.50529215G= | CA1706649130 | DDC,FIGNL1 | c.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=) | |
7 | g.50529215G>T | CA367526615 | DDC,FIGNL1 | c.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 |
7 | g.50529216A>C | CA367526616 | DDC,FIGNL1 | c.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) | |
7 | g.50529216A>G | CA367526617 | DDC,FIGNL1 | c.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) | |
7 | g.50529216A>T | CA367526618 | DDC,FIGNL1 | c.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) | |
7 | g.50529217T>A | CA454937489 | DDC,FIGNL1 | c.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=) | |
7 | g.50529217T>C | CA4262340 | DDC,FIGNL1 | c.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 |
7 | g.50529217T>G | CA454937490 | DDC,FIGNL1 | c.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 |
7 | g.50529217T= | CA1706649134 | DDC,FIGNL1 | c.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=) | |
7 | g.50529218G>A | CA367526619 | DDC,FIGNL1 | c.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 |
7 | g.50529218G>C | CA367526620 | DDC,FIGNL1 | c.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) | |
7 | g.50529218G>T | CA367526621 | DDC,FIGNL1 | c.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) | |
7 | g.50529219A>C | CA367526622 | DDC,FIGNL1 | c.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) | |
7 | g.50529219A>G | CA367526624 | DDC,FIGNL1 | c.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) | |
7 | g.50529219A>T | CA367526623 | DDC,FIGNL1 | c.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) | |
7 | g.50529220G>A | CA454937491 | DDC,FIGNL1 | c.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 |
7 | g.50529220G>C | CA367526625 | DDC,FIGNL1 | c.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) | |
7 | g.50529220G>T | CA367526626 | DDC,FIGNL1 | c.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) | |
7 | g.50529221T>A | CA367526627 | DDC,FIGNL1 | c.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) | |
7 | g.50529221T>C | CA367526628 | DDC,FIGNL1 | c.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) | |
7 | g.50529221T>G | CA367526629 | DDC,FIGNL1 | c.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) | |
7 | g.50529222A>C | CA367526630 | DDC,FIGNL1 | c.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) | |
7 | g.50529222A>G | CA367526631 | DDC,FIGNL1 | c.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) | |
7 | g.50529222A>T | CA367526632 | DDC,FIGNL1 | c.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) | |
7 | g.50529223A>C | CA454937492 | DDC,FIGNL1 | c.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=) | |
7 | g.50529223A>G | CA454937493 | DDC,FIGNL1 | c.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 |
7 | g.50529223A>T | CA454937494 | DDC,FIGNL1 | c.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=) | |
7 | g.50529224G>A | CA367526633 | DDC,FIGNL1 | c.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 |
7 | g.50529224G>C | CA367526634 | DDC,FIGNL1 | c.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) | |
7 | g.50529224G>T | CA367526635 | DDC,FIGNL1 | c.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) | |
7 | g.50529225C>A | CA367526637 | DDC,FIGNL1 | c.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) | |
7 | g.50529225C>G | CA367526638 | DDC,FIGNL1 | c.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) | |
7 | g.50529225C>T | CA367526636 | DDC,FIGNL1 | c.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 |
7 | g.50529226C>A | CA454937495 | DDC,FIGNL1 | c.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=) | |
7 | g.50529226C>G | CA454937496 | DDC,FIGNL1 | c.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=) | |
7 | g.50529226C>T | CA454937497 | DDC,FIGNL1 | c.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 |
7 | g.50529227A>C | CA367526639 | DDC,FIGNL1 | c.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) | |
7 | g.50529227A>G | CA367526640 | DDC,FIGNL1 | c.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 |
7 | g.50529227A>T | CA367526641 | DDC,FIGNL1 | c.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) | |
7 | g.50529228C>A | CA367526642 | DDC,FIGNL1 | c.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 |
7 | g.50529228C= | CA1706649142 | DDC,FIGNL1 | c.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=) | |
7 | g.50529228C>G | CA4262341 | DDC,FIGNL1 | c.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 |
7 | g.50529228C>T | CA367526643 | DDC,FIGNL1 | c.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) | |
7 | g.50529229C>A | CA454937498 | DDC,FIGNL1 | c.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=) | |
7 | g.50529229C>G | CA454937499 | DDC,FIGNL1 | c.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=) | |
7 | g.50529229C>T | CA454937500 | DDC,FIGNL1 | c.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=) | |
7 | g.50529230A= | CA1706649144 | DDC,FIGNL1 | c.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=) | |
7 | g.50529230A>C | CA367526644 | DDC,FIGNL1 | c.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 |
7 | g.50529230A>G | CA367526645 | DDC,FIGNL1 | c.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) | |
7 | g.50529230A>T | CA367526646 | DDC,FIGNL1 | c.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) | |
7 | g.50529231G>A | CA454937501 | DDC,FIGNL1 | c.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=) | |
7 | g.50529231G>C | CA367526647 | DDC,FIGNL1 | c.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 |
7 | g.50529231G>T | CA367526648 | DDC,FIGNL1 | c.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) | |
7 | g.50529232C>A | CA367526649 | DDC,FIGNL1 | c.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) | |
7 | g.50529232C>G | CA367526650 | DDC,FIGNL1 | c.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) | |
7 | g.50529232C>T | CA454937502 | DDC,FIGNL1 | c.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=) | |
7 | g.50529233T>A | CA367526653 | DDC,FIGNL1 | c.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) | |
7 | g.50529233T>C | CA367526652 | DDC,FIGNL1 | c.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) | |
7 | g.50529233T>G | CA367526651 | DDC,FIGNL1 | c.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) | |
7 | g.50529234T>A | CA367526654 | DDC,FIGNL1 | c.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) | |
7 | g.50529234T>C | CA367526655 | DDC,FIGNL1 | c.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) | |
7 | g.50529234T>G | CA367526656 | DDC,FIGNL1 | c.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) | |
7 | g.50529235C>A | CA367526657 | DDC,FIGNL1 | c.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) | |
7 | g.50529235C>G | CA367526658 | DDC,FIGNL1 | c.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) | |
7 | g.50529235C>T | CA454937503 | DDC,FIGNL1 | c.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 |
7 | g.50529236T>A | CA367526659 | DDC,FIGNL1 | c.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) | |
7 | g.50529236T>C | CA367526660 | DDC,FIGNL1 | c.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) | |
7 | g.50529236T>G | CA367526661 | DDC,FIGNL1 | c.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) | |
7 | g.50529237C>A | CA367526662 | DDC,FIGNL1 | c.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) | |
7 | g.50529237C>G | CA367526663 | DDC,FIGNL1 | c.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) | |
7 | g.50529237C>T | CA367526664 | DDC,FIGNL1 | c.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) | |
7 | g.50529238C>A | CA367526665 | DDC,FIGNL1 | c.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) | |
7 | g.50529238C>G | CA367526666 | DDC,FIGNL1 | c.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) | |
7 | g.50529238C>T | CA367526667 | DDC,FIGNL1 | c.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) | |
7 | g.50529239A>C | CA367526669 | DDC,FIGNL1 | c.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 |
7 | g.50529239A>G | CA367526670 | DDC,FIGNL1 | c.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) | |
7 | g.50529239A>T | CA367526668 | DDC,FIGNL1 | c.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) | |
7 | g.50529240T>A | CA367526672 | DDC,FIGNL1 | c.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) | |
7 | g.50529240T>C | CA367526671 | DDC,FIGNL1 | c.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 |
7 | g.50529240T>G | CA367526673 | DDC,FIGNL1 | c.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 |
7 | g.50529241G>A | CA454937504 | DDC,FIGNL1 | c.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 |
7 | g.50529241G>C | CA367526674 | DDC,FIGNL1 | c.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 |
7 | g.50529241G>T | CA454937505 | DDC,FIGNL1 | c.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=) | |
7 | g.50529242A>C | CA367526677 | DDC,FIGNL1 | c.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) | |
7 | g.50529242A>G | CA367526675 | DDC,FIGNL1 | c.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) | |
7 | g.50529242A>T | CA367526676 | DDC,FIGNL1 | c.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) | |
7 | g.50529243T>A | CA367526678 | DDC,FIGNL1 | c.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) | |
7 | g.50529243T>C | CA367526679 | DDC,FIGNL1 | c.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 |
7 | g.50529243T>G | CA10629251 | DDC,FIGNL1 | c.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 |
7 | g.50529243T= | CA1706649148 | DDC,FIGNL1 | c.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=) | |
7 | g.50529244A>C | CA454937506 | DDC,FIGNL1 | c.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=) | |
7 | g.50529244A>G | CA454937507 | DDC,FIGNL1 | c.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=) | |
7 | g.50529244A>T | CA454937508 | DDC,FIGNL1 | c.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=) | |
7 | g.50529245G>A | CA158232912 | DDC,FIGNL1 | c.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 |
7 | g.50529245G>C | CA367526680 | DDC,FIGNL1 | c.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) | |
7 | g.50529245G= | CA1706649155 | DDC,FIGNL1 | c.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=) | |
7 | g.50529245G>T | CA4262342 | DDC,FIGNL1 | c.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 |
7 | g.50529246C>A | CA367526681 | DDC,FIGNL1 | c.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 |
7 | g.50529246C= | CA1706649157 | DDC,FIGNL1 | c.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=) | |
7 | g.50529246C>G | CA367526682 | DDC,FIGNL1 | c.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) | |
7 | g.50529246C>T | CA367526683 | DDC,FIGNL1 | c.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 |
7 | g.50529247G>A | CA4262343 | DDC,FIGNL1 | c.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 |
7 | g.50529247G>C | CA454937509 | DDC,FIGNL1 | c.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 |
7 | g.50529247G= | CA1706649160 | DDC,FIGNL1 | c.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=) | |
7 | g.50529247G>T | CA454937510 | DDC,FIGNL1 | c.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 |
7 | g.50529248G>A | CA367526686 | DDC,FIGNL1 | c.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 |
7 | g.50529248G>C | CA367526684 | DDC,FIGNL1 | c.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 |
7 | g.50529248G>T | CA367526685 | DDC,FIGNL1 | c.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) | |
7 | g.50529249C>A | CA367526687 | DDC,FIGNL1 | c.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) | |
7 | g.50529249C= | CA1706649163 | DDC,FIGNL1 | c.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=) | |
7 | g.50529249C>G | CA367526688 | DDC,FIGNL1 | c.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) | |
7 | g.50529249C>T | CA367526689 | DDC,FIGNL1 | c.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 |
7 | g.50529250C>A | CA4262344 | DDC,FIGNL1 | c.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 |
7 | g.50529250C= | CA1706649165 | DDC,FIGNL1 | c.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=) | |
7 | g.50529250C>G | CA367526690 | DDC,FIGNL1 | c.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) | |
7 | g.50529250C>T | CA454937511 | DDC,FIGNL1 | c.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 |
7 | g.50529251T>A | CA367526691 | DDC,FIGNL1 | c.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 |
7 | g.50529251T>C | CA4262345 | DDC,FIGNL1 | c.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 |
7 | g.50529251T>G | CA367526692 | DDC,FIGNL1 | c.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) | |
7 | g.50529251T= | CA1706649167 | DDC,FIGNL1 | c.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=) | |
7 | g.50529252G>A | CA367526693 | DDC,FIGNL1 | c.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 |
7 | g.50529252G>C | CA367526694 | DDC,FIGNL1 | c.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 |
7 | g.50529252G= | CA1706649170 | DDC,FIGNL1 | c.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=) | |
7 | g.50529252G>T | CA4262346 | DDC,FIGNL1 | c.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 |
7 | g.50529253T>A | CA454937512 | DDC,FIGNL1 | c.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=) | |
7 | g.50529253T>C | CA454937513 | DDC,FIGNL1 | c.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=) | |
7 | g.50529253T>G | CA454937514 | DDC,FIGNL1 | c.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=) | |
7 | g.50529254G>A | CA367526696 | DDC,FIGNL1 | c.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 |
7 | g.50529254G>C | CA367526697 | DDC,FIGNL1 | c.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) | |
7 | g.50529254G>T | CA367526695 | DDC,FIGNL1 | c.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) | |
7 | g.50529255T>A | CA367526698 | DDC,FIGNL1 | c.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) | |
7 | g.50529255T>C | CA367526699 | DDC,FIGNL1 | c.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) | |
7 | g.50529255T>G | CA367526700 | DDC,FIGNL1 | c.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 |
7 | g.50529256G>A | CA4262347 | DDC,FIGNL1 | c.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 |
7 | g.50529256G>C | CA454937516 | DDC,FIGNL1 | c.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=) | |
7 | g.50529256G= | CA1706649172 | DDC,FIGNL1 | c.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=) | |
7 | g.50529256G>T | CA454937515 | DDC,FIGNL1 | c.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=) | |
7 | g.50529257A>C | CA367526701 | DDC,FIGNL1 | c.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) | |
7 | g.50529257A>G | CA367526702 | DDC,FIGNL1 | c.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 |
7 | g.50529257A>T | CA367526703 | DDC,FIGNL1 | c.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) | |
7 | g.50529258G>A | CA367526704 | DDC,FIGNL1 | c.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) | |
7 | g.50529258G>C | CA367526705 | DDC,FIGNL1 | c.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) | |
7 | g.50529258G>T | CA367526706 | DDC,FIGNL1 | c.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) | |
7 | g.50529259C>A | CA367526707 | DDC,FIGNL1 | c.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) | |
7 | g.50529259C= | CA1706649174 | DDC,FIGNL1 | c.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=) | |
7 | g.50529259C>G | CA4262348 | DDC,FIGNL1 | c.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 |
7 | g.50529259C>T | CA454937517 | DDC,FIGNL1 | c.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 |
7 | g.50529260T>A | CA367526709 | DDC,FIGNL1 | c.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) | |
7 | g.50529260T>C | CA367526710 | DDC,FIGNL1 | c.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) | |
7 | g.50529260T>G | CA367526708 | DDC,FIGNL1 | c.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) | |
7 | g.50529261C>A | CA367526711 | DDC,FIGNL1 | c.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) | |
7 | g.50529261C>G | CA367526712 | DDC,FIGNL1 | c.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) | |
7 | g.50529261C>T | CA367526713 | DDC,FIGNL1 | c.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 |
7 | g.50529262T>A | CA454937518 | DDC,FIGNL1 | c.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=) | |
7 | g.50529262T>C | CA454937519 | DDC,FIGNL1 | c.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=) | |
7 | g.50529262T>G | CA454937520 | DDC,FIGNL1 | c.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=) | |
7 | g.50529263G>A | CA367526714 | DDC,FIGNL1 | c.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) | |
7 | g.50529263G>C | CA367526715 | DDC,FIGNL1 | c.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 |
7 | g.50529263G>T | CA367526716 | DDC,FIGNL1 | c.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 |
7 | g.50529264G>A | CA367526719 | DDC,FIGNL1 | c.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 |
7 | g.50529264G>C | CA367526717 | DDC,FIGNL1 | c.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) | |
7 | g.50529264G>T | CA367526718 | DDC,FIGNL1 | c.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) | |
7 | g.50529265G>A | CA158232913 | DDC,FIGNL1 | c.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 |
7 | g.50529265G>C | CA454937521 | DDC,FIGNL1 | c.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=) | |
7 | g.50529265G= | CA1706649176 | DDC,FIGNL1 | c.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=) | |
7 | g.50529265G>T | CA454937522 | DDC,FIGNL1 | c.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=) | |
7 | g.50529266G>A | CA367526720 | DDC,FIGNL1 | c.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) | |
7 | g.50529266G>C | CA367526721 | DDC,FIGNL1 | c.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) | |
7 | g.50529266G>T | CA367526722 | DDC,FIGNL1 | c.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) | |
7 | g.50529267A>C | CA367526723 | DDC,FIGNL1 | c.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) | |
7 | g.50529267A>G | CA367526724 | DDC,FIGNL1 | c.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 |
7 | g.50529267A>T | CA367526725 | DDC,FIGNL1 | c.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) | |
7 | g.50529268C>A | CA454937523 | DDC,FIGNL1 | c.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=) | |
7 | g.50529268C= | CA1706649179 | DDC,FIGNL1 | c.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=) | |
7 | g.50529268C>G | CA454937524 | DDC,FIGNL1 | c.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=) | |
7 | g.50529268C>T | CA4262349 | DDC,FIGNL1 | c.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 |
7 | g.50529269G>A | CA4262350 | DDC,FIGNL1 | c.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 |
7 | g.50529269G>C | CA367526726 | DDC,FIGNL1 | c.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 |
7 | g.50529269G= | CA1706649181 | DDC,FIGNL1 | c.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=) | |
7 | g.50529269G>T | CA367526727 | DDC,FIGNL1 | c.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) | |
7 | g.50529270C>A | CA367526728 | DDC,FIGNL1 | c.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) | |
7 | g.50529270C>G | CA367526729 | DDC,FIGNL1 | c.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) | |
7 | g.50529270C>T | CA367526730 | DDC,FIGNL1 | c.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) | |
7 | g.50529271T>A | CA454937525 | DDC,FIGNL1 | c.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=) | |
7 | g.50529271T>C | CA454937526 | DDC,FIGNL1 | c.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 |
7 | g.50529271T>G | CA454937527 | DDC,FIGNL1 | c.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=) | |
7 | g.50529272G>A | CA367526731 | DDC,FIGNL1 | c.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) | |
7 | g.50529272G>C | CA367526732 | DDC,FIGNL1 | c.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) | |
7 | g.50529272G>T | CA367526733 | DDC,FIGNL1 | c.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) | |
7 | g.50529273C>A | CA367526734 | DDC,FIGNL1 | c.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) | |
7 | g.50529273C>G | CA367526736 | DDC,FIGNL1 | c.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) | |
7 | g.50529273C>T | CA367526735 | DDC,FIGNL1 | c.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 |
7 | g.50529274C>A | CA367526737 | DDC,FIGNL1 | c.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) | |
7 | g.50529274C>G | CA367526738 | DDC,FIGNL1 | c.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) | |
7 | g.50529274C>T | CA454937528 | DDC,FIGNL1 | c.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 |
7 | g.50529275T>A | CA367526739 | DDC,FIGNL1 | c.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) | |
7 | g.50529275T>C | CA367526740 | DDC,FIGNL1 | c.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) | |
7 | g.50529275T>G | CA367526741 | DDC,FIGNL1 | c.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) | |
7 | g.50529276G>A | CA367526742 | DDC,FIGNL1 | c.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 |
7 | g.50529276G>C | CA367526744 | DDC,FIGNL1 | c.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 |
7 | g.50529276G= | CA1706649183 | DDC,FIGNL1 | c.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=) | |
7 | g.50529276G>T | CA367526743 | DDC,FIGNL1 | c.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) | |
7 | g.50529277C>A | CA454937530 | DDC,FIGNL1 | c.501G>T (p.Leu167=) c.267G>T (p.Leu89=) c.213-997G>T c.435+8583G>T (n.435+8583G>T) c.387G>T (p.Leu129=) n.300G>T c.-11+13241G>T (n.-11+13241G>T) c.150G>T (p.Leu50=) c.444G>T (p.Leu148=) | COSMIC |
7 | g.50529277C>G | CA454937531 | DDC,FIGNL1 | c.501G>C (p.Leu167=) c.267G>C (p.Leu89=) c.213-997G>C c.435+8583G>C (n.435+8583G>C) c.387G>C (p.Leu129=) n.300G>C c.-11+13241G>C (n.-11+13241G>C) c.150G>C (p.Leu50=) c.444G>C (p.Leu148=) | |
7 | g.50529277C>T | CA454937529 | DDC,FIGNL1 | c.501G>A (p.Leu167=) c.267G>A (p.Leu89=) c.213-997G>A c.435+8583G>A (n.435+8583G>A) c.387G>A (p.Leu129=) n.300G>A c.-11+13241G>A (n.-11+13241G>A) c.150G>A (p.Leu50=) c.444G>A (p.Leu148=) | |
7 | g.50529278A>C | CA367526745 | DDC,FIGNL1 | c.500T>G (p.Leu167Arg) c.266T>G (p.Leu89Arg) c.213-998T>G c.435+8582T>G (n.435+8582T>G) c.386T>G (p.Leu129Arg) n.299T>G c.-11+13240T>G (n.-11+13240T>G) c.149T>G (p.Leu50Arg) c.443T>G (p.Leu148Arg) | |
7 | g.50529278A>G | CA367526746 | DDC,FIGNL1 | c.500T>C (p.Leu167Pro) c.266T>C (p.Leu89Pro) c.213-998T>C c.435+8582T>C (n.435+8582T>C) c.386T>C (p.Leu129Pro) n.299T>C c.-11+13240T>C (n.-11+13240T>C) c.149T>C (p.Leu50Pro) c.443T>C (p.Leu148Pro) | |
7 | g.50529278A>T | CA367526747 | DDC,FIGNL1 | c.500T>A (p.Leu167Gln) c.266T>A (p.Leu89Gln) c.213-998T>A c.435+8582T>A (n.435+8582T>A) c.386T>A (p.Leu129Gln) n.299T>A c.-11+13240T>A (n.-11+13240T>A) c.149T>A (p.Leu50Gln) c.443T>A (p.Leu148Gln) | |
7 | g.50529279G>A | CA454937532 | DDC,FIGNL1 | c.499C>T (p.Leu167=) c.265C>T (p.Leu89=) c.213-999C>T c.435+8581C>T (n.435+8581C>T) c.385C>T (p.Leu129=) n.298C>T c.-11+13239C>T (n.-11+13239C>T) c.148C>T (p.Leu50=) c.442C>T (p.Leu148=) | |
7 | g.50529279G>C | CA367526748 | DDC,FIGNL1 | c.499C>G (p.Leu167Val) c.265C>G (p.Leu89Val) c.213-999C>G c.435+8581C>G (n.435+8581C>G) c.385C>G (p.Leu129Val) n.298C>G c.-11+13239C>G (n.-11+13239C>G) c.148C>G (p.Leu50Val) c.442C>G (p.Leu148Val) | |
7 | g.50529279G>T | CA367526749 | DDC,FIGNL1 | c.499C>A (p.Leu167Met) c.265C>A (p.Leu89Met) c.213-999C>A c.435+8581C>A (n.435+8581C>A) c.385C>A (p.Leu129Met) n.298C>A c.-11+13239C>A (n.-11+13239C>A) c.148C>A (p.Leu50Met) c.442C>A (p.Leu148Met) | |
7 | g.50529279_50529280delinsGC | CA1706649185 | DDC,FIGNL1 | c.498_499delinsGC (p.Arg166=) c.264_265delinsGC (p.Arg88=) c.213-1000_213-999delinsGC c.435+8580_435+8581delinsGC (n.435+8580_435+8581delinsGC) c.384_385delinsGC (p.Arg128=) n.297_298delinsGC c.-11+13238_-11+13239delinsGC (n.-11+13238_-11+13239delinsGC) c.147_148delinsGC (p.Arg49=) c.441_442delinsGC (p.Arg147=) | |
7 | g.50529280C>A | CA454937535 | DDC,FIGNL1 | c.498G>T (p.Arg166=) c.264G>T (p.Arg88=) c.213-1000G>T c.435+8580G>T (n.435+8580G>T) c.384G>T (p.Arg128=) n.297G>T c.-11+13238G>T (n.-11+13238G>T) c.147G>T (p.Arg49=) c.441G>T (p.Arg147=) | |
7 | g.50529280C>G | CA454937533 | DDC,FIGNL1 | c.498G>C (p.Arg166=) c.264G>C (p.Arg88=) c.213-1000G>C c.435+8580G>C (n.435+8580G>C) c.384G>C (p.Arg128=) n.297G>C c.-11+13238G>C (n.-11+13238G>C) c.147G>C (p.Arg49=) c.441G>C (p.Arg147=) | |
7 | g.50529280C>T | CA454937534 | DDC,FIGNL1 | c.498G>A (p.Arg166=) c.264G>A (p.Arg88=) c.213-1000G>A c.435+8580G>A (n.435+8580G>A) c.384G>A (p.Arg128=) n.297G>A c.-11+13238G>A (n.-11+13238G>A) c.147G>A (p.Arg49=) c.441G>A (p.Arg147=) | gnomAD v4 |
7 | g.50529281del | CA918003248 | DDC,FIGNL1 | c.498del (p.Leu167CysfsTer?) c.264del (p.Leu89CysfsTer?) c.213-1000del c.435+8580del (n.435+8580del) c.384del (p.Leu129CysfsTer?) n.297del c.-11+13238del (n.-11+13238del) c.147del (p.Leu50CysfsTer?) c.441del (p.Leu148CysfsTer?) | dbSNP |