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.70435534C>A | CA376945705 | NODAL | c.643G>T (p.Glu215Ter) c.478G>T (p.Glu160Ter) c.244G>T (p.Glu82Ter) | |
| 10 | g.70435534C= | CA1918249825 | NODAL | c.643G= (p.Glu215=) c.478G= (p.Glu160=) c.244G= (p.Glu82=) | |
| 10 | g.70435534C>G | CA376945706 | NODAL | c.643G>C (p.Glu215Gln) c.478G>C (p.Glu160Gln) c.244G>C (p.Glu82Gln) | gnomAD v4 |
| 10 | g.70435534C>T | CA376945707 | NODAL | c.643G>A (p.Glu215Lys) c.478G>A (p.Glu160Lys) c.244G>A (p.Glu82Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70435535C>A | CA376945709 | NODAL | c.642G>T (p.Trp214Cys) c.477G>T (p.Trp159Cys) c.243G>T (p.Trp81Cys) | |
| 10 | g.70435535C>G | CA376945710 | NODAL | c.642G>C (p.Trp214Cys) c.477G>C (p.Trp159Cys) c.243G>C (p.Trp81Cys) | |
| 10 | g.70435535C>T | CA376945708 | NODAL | c.642G>A (p.Trp214Ter) c.477G>A (p.Trp159Ter) c.243G>A (p.Trp81Ter) | |
| 10 | g.70435536C>A | CA376945711 | NODAL | c.641G>T (p.Trp214Leu) c.476G>T (p.Trp159Leu) c.242G>T (p.Trp81Leu) | |
| 10 | g.70435536C>G | CA376945712 | NODAL | c.641G>C (p.Trp214Ser) c.476G>C (p.Trp159Ser) c.242G>C (p.Trp81Ser) | gnomAD v4 |
| 10 | g.70435536C>T | CA376945713 | NODAL | c.641G>A (p.Trp214Ter) c.476G>A (p.Trp159Ter) c.242G>A (p.Trp81Ter) | |
| 10 | g.70435537A= | CA1918249826 | NODAL | c.640T= (p.Trp214=) c.475T= (p.Trp159=) c.241T= (p.Trp81=) | |
| 10 | g.70435537A>C | CA376945714 | NODAL | c.640T>G (p.Trp214Gly) c.475T>G (p.Trp159Gly) c.241T>G (p.Trp81Gly) | |
| 10 | g.70435537A>G | CA5537559 | NODAL | c.640T>C (p.Trp214Arg) c.475T>C (p.Trp159Arg) c.241T>C (p.Trp81Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70435537A>T | CA5537558 | NODAL | c.640T>A (p.Trp214Arg) c.475T>A (p.Trp159Arg) c.241T>A (p.Trp81Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70435538C>A | CA470279538 | NODAL | c.639G>T (p.Leu213=) c.474G>T (p.Leu158=) c.240G>T (p.Leu80=) | |
| 10 | g.70435538C>G | CA470279539 | NODAL | c.639G>C (p.Leu213=) c.474G>C (p.Leu158=) c.240G>C (p.Leu80=) | |
| 10 | g.70435538C>T | CA470279540 | NODAL | c.639G>A (p.Leu213=) c.474G>A (p.Leu158=) c.240G>A (p.Leu80=) | gnomAD v4 |
| 10 | g.70435539A>C | CA376945715 | NODAL | c.638T>G (p.Leu213Arg) c.473T>G (p.Leu158Arg) c.239T>G (p.Leu80Arg) | |
| 10 | g.70435539A>G | CA376945716 | NODAL | c.638T>C (p.Leu213Pro) c.473T>C (p.Leu158Pro) c.239T>C (p.Leu80Pro) | |
| 10 | g.70435539A>T | CA376945717 | NODAL | c.638T>A (p.Leu213Gln) c.473T>A (p.Leu158Gln) c.239T>A (p.Leu80Gln) | |
| 10 | g.70435540G>A | CA470279542 | NODAL | c.637C>T (p.Leu213=) c.472C>T (p.Leu158=) c.238C>T (p.Leu80=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70435540G>C | CA376945718 | NODAL | c.637C>G (p.Leu213Val) c.472C>G (p.Leu158Val) c.238C>G (p.Leu80Val) | |
| 10 | g.70435540G= | CA1918249827 | NODAL | c.637C= (p.Leu213=) c.472C= (p.Leu158=) c.238C= (p.Leu80=) | |
| 10 | g.70435540G>T | CA376945719 | NODAL | c.637C>A (p.Leu213Met) c.472C>A (p.Leu158Met) c.238C>A (p.Leu80Met) | |
| 10 | g.70435541C>A | CA376945720 | NODAL | c.636G>T (p.Leu212Phe) c.471G>T (p.Leu157Phe) c.237G>T (p.Leu79Phe) | |
| 10 | g.70435541C>G | CA376945721 | NODAL | c.636G>C (p.Leu212Phe) c.471G>C (p.Leu157Phe) c.237G>C (p.Leu79Phe) | |
| 10 | g.70435541C>T | CA470279546 | NODAL | c.636G>A (p.Leu212=) c.471G>A (p.Leu157=) c.237G>A (p.Leu79=) | |
| 10 | g.70435542A= | CA1918249828 | NODAL | c.635T= (p.Leu212=) c.470T= (p.Leu157=) c.236T= (p.Leu79=) | |
| 10 | g.70435542A>C | CA376945724 | NODAL | c.635T>G (p.Leu212Trp) c.470T>G (p.Leu157Trp) c.236T>G (p.Leu79Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70435542A>G | CA376945723 | NODAL | c.635T>C (p.Leu212Ser) c.470T>C (p.Leu157Ser) c.236T>C (p.Leu79Ser) | |
| 10 | g.70435542A>T | CA376945722 | NODAL | c.635T>A (p.Leu212Ter) c.470T>A (p.Leu157Ter) c.236T>A (p.Leu79Ter) | |
| 10 | g.70435543A>C | CA376945725 | NODAL | c.634T>G (p.Leu212Val) c.469T>G (p.Leu157Val) c.235T>G (p.Leu79Val) | |
| 10 | g.70435543A>G | CA470279552 | NODAL | c.634T>C (p.Leu212=) c.469T>C (p.Leu157=) c.235T>C (p.Leu79=) | |
| 10 | g.70435543A>T | CA376945726 | NODAL | c.634T>A (p.Leu212Met) c.469T>A (p.Leu157Met) c.235T>A (p.Leu79Met) | |
| 10 | g.70435544G>A | CA209321694 | NODAL | c.633C>T (p.Thr211=) c.468C>T (p.Thr156=) c.234C>T (p.Thr78=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70435544G>C | CA470279553 | NODAL | c.633C>G (p.Thr211=) c.468C>G (p.Thr156=) c.234C>G (p.Thr78=) | dbSNP |
| 10 | g.70435544G= | CA1918249829 | NODAL | c.633C= (p.Thr211=) c.468C= (p.Thr156=) c.234C= (p.Thr78=) | |
| 10 | g.70435544G>T | CA470279554 | NODAL | c.633C>A (p.Thr211=) c.468C>A (p.Thr156=) c.234C>A (p.Thr78=) | |
| 10 | g.70435545G>A | CA376945727 | NODAL | c.632C>T (p.Thr211Ile) c.467C>T (p.Thr156Ile) c.233C>T (p.Thr78Ile) | gnomAD v4 |
| 10 | g.70435545G>C | CA376945728 | NODAL | c.632C>G (p.Thr211Ser) c.467C>G (p.Thr156Ser) c.233C>G (p.Thr78Ser) | |
| 10 | g.70435545G>T | CA376945729 | NODAL | c.632C>A (p.Thr211Asn) c.467C>A (p.Thr156Asn) c.233C>A (p.Thr78Asn) | |
| 10 | g.70435546T>A | CA376945730 | NODAL | c.631A>T (p.Thr211Ser) c.466A>T (p.Thr156Ser) c.232A>T (p.Thr78Ser) | |
| 10 | g.70435546T>C | CA376945731 | NODAL | c.631A>G (p.Thr211Ala) c.466A>G (p.Thr156Ala) c.232A>G (p.Thr78Ala) | |
| 10 | g.70435546T>G | CA376945732 | NODAL | c.631A>C (p.Thr211Pro) c.466A>C (p.Thr156Pro) c.232A>C (p.Thr78Pro) | |
| 10 | g.70435547G>A | CA470279562 | NODAL | c.630C>T (p.Ser210=) c.465C>T (p.Ser155=) c.231C>T (p.Ser77=) | gnomAD v4 |
| 10 | g.70435547G>C | CA470279563 | NODAL | c.630C>G (p.Ser210=) c.465C>G (p.Ser155=) c.231C>G (p.Ser77=) | |
| 10 | g.70435547G>T | CA470279564 | NODAL | c.630C>A (p.Ser210=) c.465C>A (p.Ser155=) c.231C>A (p.Ser77=) | |
| 10 | g.70435548G>A | CA376945733 | NODAL | c.629C>T (p.Ser210Phe) c.464C>T (p.Ser155Phe) c.230C>T (p.Ser77Phe) | |
| 10 | g.70435548G>C | CA376945734 | NODAL | c.629C>G (p.Ser210Cys) c.464C>G (p.Ser155Cys) c.230C>G (p.Ser77Cys) | dbSNP |
| 10 | g.70435548G= | CA1918249830 | NODAL | c.629C= (p.Ser210=) c.464C= (p.Ser155=) c.230C= (p.Ser77=) |