Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23426021A= | CA2123459305 | MYH7 | c.2105T= (p.Ile702=) n.2211T= | |
14 | g.23426021A>C | CA389049118 | MYH7 | c.2105T>G (p.Ile702Ser) n.2211T>G | |
14 | g.23426021A>G | CA389049119 | MYH7 | c.2105T>C (p.Ile702Thr) n.2211T>C | |
14 | g.23426021A>T | CA011696 | MYH7 | c.2105T>A (p.Ile702Asn) n.2211T>A | ClinVar dbSNP |
14 | g.23426022T>A | CA389049120 | MYH7 | c.2104A>T (p.Ile702Phe) n.2210A>T | |
14 | g.23426022T>C | CA279302 | MYH7 | c.2104A>G (p.Ile702Val) n.2210A>G | ClinVar dbSNP |
14 | g.23426022T>G | CA389049121 | MYH7 | c.2104A>C (p.Ile702Leu) n.2210A>C | |
14 | g.23426022T= | CA2123459312 | MYH7 | c.2104A= (p.Ile702=) n.2210A= | |
14 | g.23426023G>A | CA485766912 | MYH7 | c.2103C>T (p.Gly701=) n.2209C>T | |
14 | g.23426023G>C | CA485766913 | MYH7 | c.2103C>G (p.Gly701=) n.2209C>G | |
14 | g.23426023G>T | CA485766914 | MYH7 | c.2103C>A (p.Gly701=) n.2209C>A | COSMIC |
14 | g.23426024C>A | CA389049123 | MYH7 | c.2102G>T (p.Gly701Val) n.2208G>T | |
14 | g.23426024C>G | CA389049124 | MYH7 | c.2102G>C (p.Gly701Ala) n.2208G>C | |
14 | g.23426024C>T | CA389049122 | MYH7 | c.2102G>A (p.Gly701Asp) n.2208G>A | ClinVar |
14 | g.23426025C>A | CA389049125 | MYH7 | c.2101G>T (p.Gly701Cys) n.2207G>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23426025C= | CA2123459322 | MYH7 | c.2101G= (p.Gly701=) n.2207G= | |
14 | g.23426025C>G | CA389049126 | MYH7 | c.2101G>C (p.Gly701Arg) n.2207G>C | |
14 | g.23426025C>T | CA011689 | MYH7 | c.2101G>A (p.Gly701Ser) n.2207G>A | ClinVar dbSNP |
14 | g.23426026C>A | CA389049127 | MYH7 | c.2100G>T (p.Glu700Asp) n.2206G>T | |
14 | g.23426026C= | CA2123459331 | MYH7 | c.2100G= (p.Glu700=) n.2206G= | |
14 | g.23426026C>G | CA389049128 | MYH7 | c.2100G>C (p.Glu700Asp) n.2206G>C | |
14 | g.23426026C>T | CA031201 | MYH7 | c.2100G>A (p.Glu700=) n.2206G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23426027T>A | CA389049129 | MYH7 | c.2099A>T (p.Glu700Val) n.2205A>T | |
14 | g.23426027T>C | CA389049130 | MYH7 | c.2099A>G (p.Glu700Gly) n.2205A>G | ClinVar dbSNP |
14 | g.23426027T>G | CA389049131 | MYH7 | c.2099A>C (p.Glu700Ala) n.2205A>C | |
14 | g.23426027T= | CA2123459333 | MYH7 | c.2099A= (p.Glu700=) n.2205A= | |
14 | g.23426028C>A | CA389049132 | MYH7 | c.2098G>T (p.Glu700Ter) n.2204G>T | |
14 | g.23426028C= | CA2123459336 | MYH7 | c.2098G= (p.Glu700=) n.2204G= | |
14 | g.23426028C>G | CA389049133 | MYH7 | c.2098G>C (p.Glu700Gln) n.2204G>C | |
14 | g.23426028C>T | CA389049134 | MYH7 | c.2098G>A (p.Glu700Lys) n.2204G>A | |
14 | g.23426029C>A | CA485766920 | MYH7 | c.2097G>T (p.Leu699=) n.2203G>T | |
14 | g.23426029C= | CA2123459342 | MYH7 | c.2097G= (p.Leu699=) n.2203G= | |
14 | g.23426029C>G | CA485766921 | MYH7 | c.2097G>C (p.Leu699=) n.2203G>C | |
14 | g.23426029C>T | CA485766922 | MYH7 | c.2097G>A (p.Leu699=) n.2203G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23426033_23426045dup | CA704294509 | MYH7 | c.2085_2097dup (p.Glu700GlnfsTer?) n.2191_2203dup | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23426030A= | CA2123459346 | MYH7 | c.2096T= (p.Leu699=) n.2202T= | |
14 | g.23426030A>C | CA257821115 | MYH7 | c.2096T>G (p.Leu699Arg) n.2202T>G | dbSNP |
14 | g.23426030A>G | CA389049136 | MYH7 | c.2096T>C (p.Leu699Pro) n.2202T>C | |
14 | g.23426030A>T | CA389049135 | MYH7 | c.2096T>A (p.Leu699Gln) n.2202T>A | |
14 | g.23426031G>A | CA031161 | MYH7 | c.2095C>T (p.Leu699=) n.2201C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23426031G>C | CA389049137 | MYH7 | c.2095C>G (p.Leu699Val) n.2201C>G | |
14 | g.23426031G= | CA2123459349 | MYH7 | c.2095C= (p.Leu699=) n.2201C= | |
14 | g.23426031G>T | CA389049138 | MYH7 | c.2095C>A (p.Leu699Met) n.2201C>A | |
14 | g.23426032C>A | CA485766937 | MYH7 | c.2094G>T (p.Val698=) n.2200G>T | |
14 | g.23426032C= | CA2123459352 | MYH7 | c.2094G= (p.Val698=) n.2200G= | |
14 | g.23426032C>G | CA485766935 | MYH7 | c.2094G>C (p.Val698=) n.2200G>C | |
14 | g.23426032C>T | CA485766932 | MYH7 | c.2094G>A (p.Val698=) n.2200G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23426033A= | CA2123459359 | MYH7 | c.2093T= (p.Val698=) n.2199T= | |
14 | g.23426033A>C | CA389049139 | MYH7 | c.2093T>G (p.Val698Gly) n.2199T>G | |
14 | g.23426033A>G | CA011673 | MYH7 | c.2093T>C (p.Val698Ala) n.2199T>C | ClinVar dbSNP |