UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 10 | g.70435643T>C | CA470278903 | NODAL | c.534A>G (p.Gly178=) c.369A>G (p.Gly123=) c.135A>G (p.Gly45=) | dbSNP |
| 10 | g.70435643T>G | CA470278904 | NODAL | c.534A>C (p.Gly178=) c.369A>C (p.Gly123=) c.135A>C (p.Gly45=) | |
| 10 | g.70435643T= | CA1918249874 | NODAL | c.534A= (p.Gly178=) c.369A= (p.Gly123=) c.135A= (p.Gly45=) | |
| 10 | g.70435644C>A | CA209321822 | NODAL | c.533G>T (p.Gly178Val) c.368G>T (p.Gly123Val) c.134G>T (p.Gly45Val) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70435644C= | CA1918249875 | NODAL | c.533G= (p.Gly178=) c.368G= (p.Gly123=) c.134G= (p.Gly45=) | |
| 10 | g.70435644C>G | CA376946044 | NODAL | c.533G>C (p.Gly178Ala) c.368G>C (p.Gly123Ala) c.134G>C (p.Gly45Ala) | |
| 10 | g.70435644C>T | CA376946046 | NODAL | c.533G>A (p.Gly178Glu) c.368G>A (p.Gly123Glu) c.134G>A (p.Gly45Glu) | dbSNP |
| 10 | g.70435645C>A | CA376946048 | NODAL | c.532G>T (p.Gly178Ter) c.367G>T (p.Gly123Ter) c.133G>T (p.Gly45Ter) | |
| 10 | g.70435645C= | CA1918249876 | NODAL | c.532G= (p.Gly178=) c.367G= (p.Gly123=) c.133G= (p.Gly45=) | |
| 10 | g.70435645C>G | CA376946051 | NODAL | c.532G>C (p.Gly178Arg) c.367G>C (p.Gly123Arg) c.133G>C (p.Gly45Arg) | |
| 10 | g.70435645C>T | CA5537586 | NODAL | c.532G>A (p.Gly178Arg) c.367G>A (p.Gly123Arg) c.133G>A (p.Gly45Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70435646A= | CA1918249877 | NODAL | c.531T= (p.Ala177=) c.366T= (p.Ala122=) c.132T= (p.Ala44=) | |
| 10 | g.70435646A>C | CA470278906 | NODAL | c.531T>G (p.Ala177=) c.366T>G (p.Ala122=) c.132T>G (p.Ala44=) | |
| 10 | g.70435646A>G | CA5537587 | NODAL | c.531T>C (p.Ala177=) c.366T>C (p.Ala122=) c.132T>C (p.Ala44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70435646A>T | CA470278905 | NODAL | c.531T>A (p.Ala177=) c.366T>A (p.Ala122=) c.132T>A (p.Ala44=) | |
| 10 | g.70435647G>A | CA376946054 | NODAL | c.530C>T (p.Ala177Val) c.365C>T (p.Ala122Val) c.131C>T (p.Ala44Val) | |
| 10 | g.70435647G>C | CA376946056 | NODAL | c.530C>G (p.Ala177Gly) c.365C>G (p.Ala122Gly) c.131C>G (p.Ala44Gly) | |
| 10 | g.70435647G>T | CA376946057 | NODAL | c.530C>A (p.Ala177Asp) c.365C>A (p.Ala122Asp) c.131C>A (p.Ala44Asp) | |
| 10 | g.70435648C>A | CA376946059 | NODAL | c.529G>T (p.Ala177Ser) c.364G>T (p.Ala122Ser) c.130G>T (p.Ala44Ser) | |
| 10 | g.70435648C>G | CA376946061 | NODAL | c.529G>C (p.Ala177Pro) c.364G>C (p.Ala122Pro) c.130G>C (p.Ala44Pro) | |
| 10 | g.70435648C>T | CA376946062 | NODAL | c.529G>A (p.Ala177Thr) c.364G>A (p.Ala122Thr) c.130G>A (p.Ala44Thr) | |
| 10 | g.70435649T>A | CA470278907 | NODAL | c.528A>T (p.Val176=) c.363A>T (p.Val121=) c.129A>T (p.Val43=) | |
| 10 | g.70435649T>C | CA470278908 | NODAL | c.528A>G (p.Val176=) c.363A>G (p.Val121=) c.129A>G (p.Val43=) | |
| 10 | g.70435649T>G | CA470278909 | NODAL | c.528A>C (p.Val176=) c.363A>C (p.Val121=) c.129A>C (p.Val43=) | |
| 10 | g.70435650A>C | CA376946063 | NODAL | c.527T>G (p.Val176Gly) c.362T>G (p.Val121Gly) c.128T>G (p.Val43Gly) | |
| 10 | g.70435650A>G | CA376946064 | NODAL | c.527T>C (p.Val176Ala) c.362T>C (p.Val121Ala) c.128T>C (p.Val43Ala) | |
| 10 | g.70435650A>T | CA376946065 | NODAL | c.527T>A (p.Val176Glu) c.362T>A (p.Val121Glu) c.128T>A (p.Val43Glu) | |
| 10 | g.70435651C>A | CA376946067 | NODAL | c.526G>T (p.Val176Leu) c.361G>T (p.Val121Leu) c.127G>T (p.Val43Leu) |