| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.70435629C>A | CA376945977 | NODAL | c.548G>T (p.Arg183Leu) c.383G>T (p.Arg128Leu) c.149G>T (p.Arg50Leu) | |
| 10 | g.70435629C= | CA1918249867 | NODAL | c.548G= (p.Arg183=) c.383G= (p.Arg128=) c.149G= (p.Arg50=) | |
| 10 | g.70435629C>G | CA376945980 | NODAL | c.548G>C (p.Arg183Pro) c.383G>C (p.Arg128Pro) c.149G>C (p.Arg50Pro) | |
| 10 | g.70435629C>T | CA223516 | NODAL | c.548G>A (p.Arg183Gln) c.383G>A (p.Arg128Gln) c.149G>A (p.Arg50Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70435630G>A | CA5537583 | NODAL | c.547C>T (p.Arg183Trp) c.382C>T (p.Arg128Trp) c.148C>T (p.Arg50Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70435630G>C | CA376945984 | NODAL | c.547C>G (p.Arg183Gly) c.382C>G (p.Arg128Gly) c.148C>G (p.Arg50Gly) | |
| 10 | g.70435630G= | CA1918249868 | NODAL | c.547C= (p.Arg183=) c.382C= (p.Arg128=) c.148C= (p.Arg50=) | |
| 10 | g.70435630G>T | CA470278897 | NODAL | c.547C>A (p.Arg183=) c.382C>A (p.Arg128=) c.148C>A (p.Arg50=) | |
| 10 | g.70435631C>A | CA470278898 | NODAL | c.546G>T (p.Pro182=) c.381G>T (p.Pro127=) c.147G>T (p.Pro49=) | |
| 10 | g.70435631C= | CA1918249869 | NODAL | c.546G= (p.Pro182=) c.381G= (p.Pro127=) c.147G= (p.Pro49=) | |
| 10 | g.70435631C>G | CA470278899 | NODAL | c.546G>C (p.Pro182=) c.381G>C (p.Pro127=) c.147G>C (p.Pro49=) | |
| 10 | g.70435631C>T | CA5537584 | NODAL | c.546G>A (p.Pro182=) c.381G>A (p.Pro127=) c.147G>A (p.Pro49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70435632G>A | CA5537585 | NODAL | c.545C>T (p.Pro182Leu) c.380C>T (p.Pro127Leu) c.146C>T (p.Pro49Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.70435632G>C | CA376945988 | NODAL | c.545C>G (p.Pro182Arg) c.380C>G (p.Pro127Arg) c.146C>G (p.Pro49Arg) | |
| 10 | g.70435632G= | CA1918249870 | NODAL | c.545C= (p.Pro182=) c.380C= (p.Pro127=) c.146C= (p.Pro49=) | |
| 10 | g.70435632G>T | CA376945989 | NODAL | c.545C>A (p.Pro182Gln) c.380C>A (p.Pro127Gln) c.146C>A (p.Pro49Gln) | |
| 10 | g.70435633G>A | CA376945992 | NODAL | c.544C>T (p.Pro182Ser) c.379C>T (p.Pro127Ser) c.145C>T (p.Pro49Ser) | |
| 10 | g.70435633G>C | CA376945996 | NODAL | c.544C>G (p.Pro182Ala) c.379C>G (p.Pro127Ala) c.145C>G (p.Pro49Ala) | |
| 10 | g.70435633G>T | CA376945994 | NODAL | c.544C>A (p.Pro182Thr) c.379C>A (p.Pro127Thr) c.145C>A (p.Pro49Thr) | |
| 10 | g.70435634C>A | CA376945998 | NODAL | c.543G>T (p.Trp181Cys) c.378G>T (p.Trp126Cys) c.144G>T (p.Trp48Cys) | gnomAD v4 |
| 10 | g.70435634C>G | CA376946000 | NODAL | c.543G>C (p.Trp181Cys) c.378G>C (p.Trp126Cys) c.144G>C (p.Trp48Cys) | |
| 10 | g.70435634C>T | CA376946002 | NODAL | c.543G>A (p.Trp181Ter) c.378G>A (p.Trp126Ter) c.144G>A (p.Trp48Ter) | |
| 10 | g.70435635C>A | CA376946003 | NODAL | c.542G>T (p.Trp181Leu) c.377G>T (p.Trp126Leu) c.143G>T (p.Trp48Leu) | |
| 10 | g.70435635C>G | CA376946005 | NODAL | c.542G>C (p.Trp181Ser) c.377G>C (p.Trp126Ser) c.143G>C (p.Trp48Ser) | |
| 10 | g.70435635C>T | CA376946007 | NODAL | c.542G>A (p.Trp181Ter) c.377G>A (p.Trp126Ter) c.143G>A (p.Trp48Ter) | |
| 10 | g.70435636A>C | CA376946012 | NODAL | c.541T>G (p.Trp181Gly) c.376T>G (p.Trp126Gly) c.142T>G (p.Trp48Gly) | |
| 10 | g.70435636A>G | CA376946008 | NODAL | c.541T>C (p.Trp181Arg) c.376T>C (p.Trp126Arg) c.142T>C (p.Trp48Arg) | gnomAD v4 |
| 10 | g.70435636A>T | CA376946010 | NODAL | c.541T>A (p.Trp181Arg) c.376T>A (p.Trp126Arg) c.142T>A (p.Trp48Arg) | |
| 10 | g.70435637G>A | CA470278900 | NODAL | c.540C>T (p.Cys180=) c.375C>T (p.Cys125=) c.141C>T (p.Cys47=) | |
| 10 | g.70435637G>C | CA376946014 | NODAL | c.540C>G (p.Cys180Trp) c.375C>G (p.Cys125Trp) c.141C>G (p.Cys47Trp) | gnomAD v4 |
| 10 | g.70435637G>T | CA376946015 | NODAL | c.540C>A (p.Cys180Ter) c.375C>A (p.Cys125Ter) c.141C>A (p.Cys47Ter) | |
| 10 | g.70435638C>A | CA376946018 | NODAL | c.539G>T (p.Cys180Phe) c.374G>T (p.Cys125Phe) c.140G>T (p.Cys47Phe) | |
| 10 | g.70435638C= | CA1918249871 | NODAL | c.539G= (p.Cys180=) c.374G= (p.Cys125=) c.140G= (p.Cys47=) | |
| 10 | g.70435638C>G | CA376946020 | NODAL | c.539G>C (p.Cys180Ser) c.374G>C (p.Cys125Ser) c.140G>C (p.Cys47Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70435638C>T | CA376946022 | NODAL | c.539G>A (p.Cys180Tyr) c.374G>A (p.Cys125Tyr) c.140G>A (p.Cys47Tyr) | |
| 10 | g.70435639A>C | CA376946025 | NODAL | c.538T>G (p.Cys180Gly) c.373T>G (p.Cys125Gly) c.139T>G (p.Cys47Gly) | |
| 10 | g.70435639A>G | CA376946028 | NODAL | c.538T>C (p.Cys180Arg) c.373T>C (p.Cys125Arg) c.139T>C (p.Cys47Arg) | |
| 10 | g.70435639A>T | CA376946026 | NODAL | c.538T>A (p.Cys180Ser) c.373T>A (p.Cys125Ser) c.139T>A (p.Cys47Ser) | |
| 10 | g.70435640C>A | CA376946031 | NODAL | c.537G>T (p.Glu179Asp) c.372G>T (p.Glu124Asp) c.138G>T (p.Glu46Asp) | |
| 10 | g.70435640C>G | CA376946032 | NODAL | c.537G>C (p.Glu179Asp) c.372G>C (p.Glu124Asp) c.138G>C (p.Glu46Asp) | |
| 10 | g.70435640C>T | CA470278901 | NODAL | c.537G>A (p.Glu179=) c.372G>A (p.Glu124=) c.138G>A (p.Glu46=) | |
| 10 | g.70435641T>A | CA376946033 | NODAL | c.536A>T (p.Glu179Val) c.371A>T (p.Glu124Val) c.137A>T (p.Glu46Val) | |
| 10 | g.70435641T>C | CA209321818 | NODAL | c.536A>G (p.Glu179Gly) c.371A>G (p.Glu124Gly) c.137A>G (p.Glu46Gly) | dbSNP gnomAD v4 |
| 10 | g.70435641T>G | CA376946036 | NODAL | c.536A>C (p.Glu179Ala) c.371A>C (p.Glu124Ala) c.137A>C (p.Glu46Ala) | |
| 10 | g.70435641T= | CA1918249872 | NODAL | c.536A= (p.Glu179=) c.371A= (p.Glu124=) c.137A= (p.Glu46=) | |
| 10 | g.70435642C>A | CA376946038 | NODAL | c.535G>T (p.Glu179Ter) c.370G>T (p.Glu124Ter) c.136G>T (p.Glu46Ter) | |
| 10 | g.70435642C= | CA1918249873 | NODAL | c.535G= (p.Glu179=) c.370G= (p.Glu124=) c.136G= (p.Glu46=) | |
| 10 | g.70435642C>G | CA376946040 | NODAL | c.535G>C (p.Glu179Gln) c.370G>C (p.Glu124Gln) c.136G>C (p.Glu46Gln) | |
| 10 | g.70435642C>T | CA376946041 | NODAL | c.535G>A (p.Glu179Lys) c.370G>A (p.Glu124Lys) c.136G>A (p.Glu46Lys) | dbSNP gnomAD v2 |
| 10 | g.70435643T>A | CA470278902 | NODAL | c.534A>T (p.Gly178=) c.369A>T (p.Gly123=) c.135A>T (p.Gly45=) | gnomAD v4 |