| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.70435529G>A | CA5537557 | NODAL | c.648C>T (p.Ala216=) c.483C>T (p.Ala161=) c.249C>T (p.Ala83=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70435529G>C | CA470279518 | NODAL | c.648C>G (p.Ala216=) c.483C>G (p.Ala161=) c.249C>G (p.Ala83=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70435529G= | CA1918249824 | NODAL | c.648C= (p.Ala216=) c.483C= (p.Ala161=) c.249C= (p.Ala83=) | |
| 10 | g.70435529G>T | CA470279521 | NODAL | c.648C>A (p.Ala216=) c.483C>A (p.Ala161=) c.249C>A (p.Ala83=) | |
| 10 | g.70435530G>A | CA376945696 | NODAL | c.647C>T (p.Ala216Val) c.482C>T (p.Ala161Val) c.248C>T (p.Ala83Val) | gnomAD v4 |
| 10 | g.70435530G>C | CA376945694 | NODAL | c.647C>G (p.Ala216Gly) c.482C>G (p.Ala161Gly) c.248C>G (p.Ala83Gly) | |
| 10 | g.70435530G>T | CA376945695 | NODAL | c.647C>A (p.Ala216Asp) c.482C>A (p.Ala161Asp) c.248C>A (p.Ala83Asp) | |
| 10 | g.70435531C>A | CA376945697 | NODAL | c.646G>T (p.Ala216Ser) c.481G>T (p.Ala161Ser) c.247G>T (p.Ala83Ser) | |
| 10 | g.70435531C>G | CA376945698 | NODAL | c.646G>C (p.Ala216Pro) c.481G>C (p.Ala161Pro) c.247G>C (p.Ala83Pro) | |
| 10 | g.70435531C>T | CA376945699 | NODAL | c.646G>A (p.Ala216Thr) c.481G>A (p.Ala161Thr) c.247G>A (p.Ala83Thr) | |
| 10 | g.70435532T>A | CA376945700 | NODAL | c.645A>T (p.Glu215Asp) c.480A>T (p.Glu160Asp) c.246A>T (p.Glu82Asp) | |
| 10 | g.70435532T>C | CA470279529 | NODAL | c.645A>G (p.Glu215=) c.480A>G (p.Glu160=) c.246A>G (p.Glu82=) | |
| 10 | g.70435532T>G | CA376945701 | NODAL | c.645A>C (p.Glu215Asp) c.480A>C (p.Glu160Asp) c.246A>C (p.Glu82Asp) | gnomAD v4 |
| 10 | g.70435533T>A | CA376945702 | NODAL | c.644A>T (p.Glu215Val) c.479A>T (p.Glu160Val) c.245A>T (p.Glu82Val) | |
| 10 | g.70435533T>C | CA376945703 | NODAL | c.644A>G (p.Glu215Gly) c.479A>G (p.Glu160Gly) c.245A>G (p.Glu82Gly) | |
| 10 | g.70435533T>G | CA376945704 | NODAL | c.644A>C (p.Glu215Ala) c.479A>C (p.Glu160Ala) c.245A>C (p.Glu82Ala) | |
| 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) |