Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.48965198_48965246del | CA2586287852 | FTL | c.201_249del (p.Ala68GlufsTer?) | gnomAD v4 |
19 | g.48965225_48965263del | CA2586287878 | FTL | c.228_266del (p.Arg77_Arg89del) | gnomAD v4 |
19 | g.48965233C>A | CA2586287886 | FTL | c.236C>A (p.Ala79Asp) | gnomAD v4 |
19 | g.48965233C= | CA2340161067 | FTL | c.236C= (p.Ala79=) | |
19 | g.48965233C>T | CA2340161068 | FTL | c.236C>T (p.Ala79Val) | dbSNP gnomAD v4 |
19 | g.48965234C= | CA2340161069 | FTL | c.237C= (p.Ala79=) | |
19 | g.48965234C>T | CA2340161070 | FTL | c.237C>T (p.Ala79=) | dbSNP gnomAD v4 |
19 | g.48965235G>A | CA309374793 | FTL | c.238G>A (p.Ala80Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.48965235G= | CA2340161073 | FTL | c.238G= (p.Ala80=) | |
19 | g.48965235G>T | CA2340161074 | FTL | c.238G>T (p.Ala80Ser) | dbSNP gnomAD v4 |
19 | g.48965236C>A | CA2582225008 | FTL | c.239C>A (p.Ala80Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.48965236C>T | CA2586287887 | FTL | c.239C>T (p.Ala80Val) | gnomAD v4 |
19 | g.48965237T>C | CA309374795 | FTL | c.240T>C (p.Ala80=) | dbSNP |
19 | g.48965237T= | CA2340161077 | FTL | c.240T= (p.Ala80=) | |
19 | g.48965238A>C | CA2586287888 | FTL | c.241A>C (p.Ser81Arg) | gnomAD v4 |
19 | g.48965239G>T | CA2586287889 | FTL | c.242G>T (p.Ser81Ile) | gnomAD v4 |
19 | g.48965240C>A | CA2586287890 | FTL | c.243C>A (p.Ser81Arg) | gnomAD v4 |
19 | g.48965240C>T | CA2586287891 | FTL | c.243C>T (p.Ser81=) | gnomAD v4 |
19 | g.48965242C>A | CA2586287893 | FTL | c.245C>A (p.Pro82His) | gnomAD v4 |
19 | g.48965242C= | CA2340161079 | FTL | c.245C= (p.Pro82=) | |
19 | g.48965242C>G | CA2586287892 | FTL | c.245C>G (p.Pro82Arg) | gnomAD v4 |
19 | g.48965242C>T | CA883052030 | FTL | c.245C>T (p.Pro82Leu) | dbSNP gnomAD v4 |
19 | g.48965243T>A | CA2586287894 | FTL | c.246T>A (p.Pro82=) | gnomAD v4 |
19 | g.48965243T>C | CA2586287895 | FTL | c.246T>C (p.Pro82=) | gnomAD v4 |
19 | g.48965244C>G | CA2586287896 | FTL | c.247C>G (p.Pro83Ala) | gnomAD v4 |
19 | g.48965246C>G | CA2586287897 | FTL | c.249C>G (p.Pro83=) | gnomAD v4 |
19 | g.48965247C>A | CA2586287898 | FTL | c.250C>A (p.Arg84=) | gnomAD v4 |
19 | g.48965247C= | CA2340161080 | FTL | c.250C= (p.Arg84=) | |
19 | g.48965247C>G | CA309374797 | FTL | c.250C>G (p.Arg84Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.48965247C>T | CA2586287899 | FTL | c.250C>T (p.Arg84Ter) | gnomAD v4 |
19 | g.48965248G>A | CA2814670074 | FTL | c.251G>A (p.Arg84Gln) | |
19 | g.48965248G>T | CA2586287900 | FTL | c.251G>T (p.Arg84Leu) | gnomAD v4 |
19 | g.48965250G>A | CA2586287901 | FTL | c.253G>A (p.Ala85Thr) | gnomAD v4 |
19 | g.48965250G>T | CA2586287902 | FTL | c.253G>T (p.Ala85Ser) | gnomAD v4 |
19 | g.48965251C>T | CA2586287903 | FTL | c.254C>T (p.Ala85Val) | gnomAD v4 |
19 | g.48965252G>A | CA2586287905 | FTL | c.255G>A (p.Ala85=) | gnomAD v4 |
19 | g.48965255_48965269del | CA2586287904 | FTL | c.258_272del (p.Cys87_Pro91del) | gnomAD v4 |
19 | g.48965253C= | CA2340161082 | FTL | c.256C= (p.Pro86=) | |
19 | g.48965253C>T | CA996657252 | FTL | c.256C>T (p.Pro86Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.48965254C>A | CA2586287906 | FTL | c.257C>A (p.Pro86His) | gnomAD v4 |
19 | g.48965256T>C | CA2586287907 | FTL | c.259T>C (p.Cys87Arg) | gnomAD v4 |
19 | g.48965257G>A | CA2586287908 | FTL | c.260G>A (p.Cys87Tyr) | gnomAD v4 |
19 | g.48965257G>T | CA2586287909 | FTL | c.260G>T (p.Cys87Phe) | gnomAD v4 |
19 | g.48965259C>A | CA2586287910 | FTL | c.262C>A (p.Leu88Ile) | gnomAD v4 |
19 | g.48965259C= | CA2340161083 | FTL | c.262C= (p.Leu88=) | |
19 | g.48965259C>G | CA309374806 | FTL | c.262C>G (p.Leu88Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.48965259C>T | CA2586287911 | FTL | c.262C>T (p.Leu88Phe) | gnomAD v4 |
19 | g.48965260T>C | CA2586287912 | FTL | c.263T>C (p.Leu88Pro) | gnomAD v4 |
19 | g.48965260T>G | CA309374807 | FTL | c.263T>G (p.Leu88Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.48965260T= | CA2340161085 | FTL | c.263T= (p.Leu88=) |