Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31595155C>A | CA297521 | TTR | c.236C>A (p.Thr79Lys) c.140C>A (p.Thr47Lys) n.262C>A | ClinVar dbSNP |
18 | g.31595155C= | CA2293887811 | TTR | c.236C= (p.Thr79=) c.140C= (p.Thr47=) n.262C= | |
18 | g.31595155C>G | CA402156954 | TTR | c.236C>G (p.Thr79Arg) c.140C>G (p.Thr47Arg) n.262C>G | |
18 | g.31595155C>T | CA402156955 | TTR | c.236C>T (p.Thr79Ile) c.140C>T (p.Thr47Ile) n.262C>T | gnomAD v4 COSMIC |
18 | g.31595156A>C | CA503610362 | TTR | c.237A>C (p.Thr79=) c.141A>C (p.Thr47=) n.263A>C | |
18 | g.31595156A>G | CA503610363 | TTR | c.237A>G (p.Thr79=) c.141A>G (p.Thr47=) n.263A>G | |
18 | g.31595156A>T | CA503610364 | TTR | c.237A>T (p.Thr79=) c.141A>T (p.Thr47=) n.263A>T | |
18 | g.31595157del | CA2641409516 | TTR | c.238del (p.Thr80LeufsTer6) c.142del (p.Thr48LeufsTer6) n.264del | gnomAD v4 |
18 | g.31595157A= | CA2293887812 | TTR | c.238A= (p.Thr80=) c.142A= (p.Thr48=) n.264A= | |
18 | g.31595157A>C | CA402156956 | TTR | c.238A>C (p.Thr80Pro) c.142A>C (p.Thr48Pro) n.264A>C | |
18 | g.31595157A>G | CA256798 | TTR | c.238A>G (p.Thr80Ala) c.142A>G (p.Thr48Ala) n.264A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31595157A>T | CA402156957 | TTR | c.238A>T (p.Thr80Ser) c.142A>T (p.Thr48Ser) n.264A>T | |
18 | g.31595158C>A | CA402156958 | TTR | c.239C>A (p.Thr80Asn) c.143C>A (p.Thr48Asn) n.265C>A | |
18 | g.31595158C= | CA2293887813 | TTR | c.239C= (p.Thr80=) c.143C= (p.Thr48=) n.265C= | |
18 | g.31595158C>G | CA402156959 | TTR | c.239C>G (p.Thr80Ser) c.143C>G (p.Thr48Ser) n.265C>G | ClinVar dbSNP |
18 | g.31595158C>T | CA402156960 | TTR | c.239C>T (p.Thr80Ile) c.143C>T (p.Thr48Ile) n.265C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.31595159T>A | CA503610367 | TTR | c.240T>A (p.Thr80=) c.144T>A (p.Thr48=) n.266T>A | |
18 | g.31595159T>C | CA503610368 | TTR | c.240T>C (p.Thr80=) c.144T>C (p.Thr48=) n.266T>C | gnomAD v4 |
18 | g.31595159T>G | CA503610370 | TTR | c.240T>G (p.Thr80=) c.144T>G (p.Thr48=) n.266T>G | gnomAD v4 |
18 | g.31595160G>A | CA256839 | TTR | c.241G>A (p.Glu81Lys) c.145G>A (p.Glu49Lys) n.267G>A | ClinVar dbSNP gnomAD v4 |
18 | g.31595160G>C | CA402156961 | TTR | c.241G>C (p.Glu81Gln) c.145G>C (p.Glu49Gln) n.267G>C | gnomAD v4 |
18 | g.31595160G= | CA2293887814 | TTR | c.241G= (p.Glu81=) c.145G= (p.Glu49=) n.267G= | |
18 | g.31595160G>T | CA402156962 | TTR | c.241G>T (p.Glu81Ter) c.145G>T (p.Glu49Ter) n.267G>T | |
18 | g.31595161A= | CA2293887815 | TTR | c.242A= (p.Glu81=) c.146A= (p.Glu49=) n.268A= | |
18 | g.31595161A>C | CA402156963 | TTR | c.242A>C (p.Glu81Ala) c.146A>C (p.Glu49Ala) n.268A>C | ClinVar |
18 | g.31595161A>G | CA402156964 | TTR | c.242A>G (p.Glu81Gly) c.146A>G (p.Glu49Gly) n.268A>G | ClinVar dbSNP |
18 | g.31595161A>T | CA402156965 | TTR | c.242A>T (p.Glu81Val) c.146A>T (p.Glu49Val) n.268A>T | |
18 | g.31595162G>A | CA503610371 | TTR | c.243G>A (p.Glu81=) c.147G>A (p.Glu49=) n.269G>A | |
18 | g.31595162G>C | CA402156966 | TTR | c.243G>C (p.Glu81Asp) c.147G>C (p.Glu49Asp) n.269G>C | |
18 | g.31595162G>T | CA402156967 | TTR | c.243G>T (p.Glu81Asp) c.147G>T (p.Glu49Asp) n.269G>T | |
18 | g.31595163G>A | CA402156968 | TTR | c.244G>A (p.Glu82Lys) c.148G>A (p.Glu50Lys) n.270G>A | ClinVar dbSNP |
18 | g.31595163G>C | CA402156969 | TTR | c.244G>C (p.Glu82Gln) c.148G>C (p.Glu50Gln) n.270G>C | |
18 | g.31595163G= | CA2293887816 | TTR | c.244G= (p.Glu82=) c.148G= (p.Glu50=) n.270G= | |
18 | g.31595163G>T | CA402156970 | TTR | c.244G>T (p.Glu82Ter) c.148G>T (p.Glu50Ter) n.270G>T | |
18 | g.31595164A>C | CA402156971 | TTR | c.245A>C (p.Glu82Ala) c.149A>C (p.Glu50Ala) n.271A>C | |
18 | g.31595164A>G | CA402156972 | TTR | c.245A>G (p.Glu82Gly) c.149A>G (p.Glu50Gly) n.271A>G | gnomAD v4 |
18 | g.31595164A>T | CA402156973 | TTR | c.245A>T (p.Glu82Val) c.149A>T (p.Glu50Val) n.271A>T | |
18 | g.31595165G>A | CA503610373 | TTR | c.246G>A (p.Glu82=) c.150G>A (p.Glu50=) n.272G>A | gnomAD v4 |
18 | g.31595165G>C | CA8928444 | TTR | c.246G>C (p.Glu82Asp) c.150G>C (p.Glu50Asp) n.272G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31595165G= | CA2293887817 | TTR | c.246G= (p.Glu82=) c.150G= (p.Glu50=) n.272G= | |
18 | g.31595165G>T | CA402156974 | TTR | c.246G>T (p.Glu82Asp) c.150G>T (p.Glu50Asp) n.272G>T | |
18 | g.31595166G>A | CA402156975 | TTR | c.247G>A (p.Glu83Lys) c.151G>A (p.Glu51Lys) n.273G>A | |
18 | g.31595166G>C | CA402156976 | TTR | c.247G>C (p.Glu83Gln) c.151G>C (p.Glu51Gln) n.273G>C | |
18 | g.31595166G>T | CA402156977 | TTR | c.247G>T (p.Glu83Ter) c.151G>T (p.Glu51Ter) n.273G>T | |
18 | g.31595167A>C | CA402156978 | TTR | c.248A>C (p.Glu83Ala) c.152A>C (p.Glu51Ala) n.274A>C | |
18 | g.31595167A>G | CA402156979 | TTR | c.248A>G (p.Glu83Gly) c.152A>G (p.Glu51Gly) n.274A>G | |
18 | g.31595167A>T | CA402156980 | TTR | c.248A>T (p.Glu83Val) c.152A>T (p.Glu51Val) n.274A>T | |
18 | g.31595168A>C | CA402156981 | TTR | c.249A>C (p.Glu83Asp) c.153A>C (p.Glu51Asp) n.275A>C | gnomAD v4 |
18 | g.31595168A>G | CA503610374 | TTR | c.249A>G (p.Glu83=) c.153A>G (p.Glu51=) n.275A>G | ClinVar |
18 | g.31595168A>T | CA402156982 | TTR | c.249A>T (p.Glu83Asp) c.153A>T (p.Glu51Asp) n.275A>T |