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.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=) | |
| 10 | g.70435548G>T | CA376945735 | NODAL | c.629C>A (p.Ser210Tyr) c.464C>A (p.Ser155Tyr) c.230C>A (p.Ser77Tyr) | COSMIC |
| 10 | g.70435549A= | CA1918249831 | NODAL | c.628T= (p.Ser210=) c.463T= (p.Ser155=) c.229T= (p.Ser77=) | |
| 10 | g.70435549A>C | CA376945736 | NODAL | c.628T>G (p.Ser210Ala) c.463T>G (p.Ser155Ala) c.229T>G (p.Ser77Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70435549A>G | CA376945737 | NODAL | c.628T>C (p.Ser210Pro) c.463T>C (p.Ser155Pro) c.229T>C (p.Ser77Pro) | gnomAD v4 |
| 10 | g.70435549A>T | CA376945738 | NODAL | c.628T>A (p.Ser210Thr) c.463T>A (p.Ser155Thr) c.229T>A (p.Ser77Thr) | gnomAD v4 |
| 10 | g.70435550C>A | CA470279571 | NODAL | c.627G>T (p.Gly209=) c.462G>T (p.Gly154=) c.228G>T (p.Gly76=) | |
| 10 | g.70435550C= | CA1918249832 | NODAL | c.627G= (p.Gly209=) c.462G= (p.Gly154=) c.228G= (p.Gly76=) | |
| 10 | g.70435550C>G | CA470279572 | NODAL | c.627G>C (p.Gly209=) c.462G>C (p.Gly154=) c.228G>C (p.Gly76=) | |
| 10 | g.70435550C>T | CA5537560 | NODAL | c.627G>A (p.Gly209=) c.462G>A (p.Gly154=) c.228G>A (p.Gly76=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.70435551C>A | CA376945740 | NODAL | c.626G>T (p.Gly209Val) c.461G>T (p.Gly154Val) c.227G>T (p.Gly76Val) | |
| 10 | g.70435551C>G | CA376945739 | NODAL | c.626G>C (p.Gly209Ala) c.461G>C (p.Gly154Ala) c.227G>C (p.Gly76Ala) | |
| 10 | g.70435551C>T | CA376945741 | NODAL | c.626G>A (p.Gly209Glu) c.461G>A (p.Gly154Glu) c.227G>A (p.Gly76Glu) | |
| 10 | g.70435552C>A | CA376945742 | NODAL | c.625G>T (p.Gly209Trp) c.460G>T (p.Gly154Trp) c.226G>T (p.Gly76Trp) | |
| 10 | g.70435552C>G | CA376945744 | NODAL | c.625G>C (p.Gly209Arg) c.460G>C (p.Gly154Arg) c.226G>C (p.Gly76Arg) | |
| 10 | g.70435552C>T | CA376945743 | NODAL | c.625G>A (p.Gly209Arg) c.460G>A (p.Gly154Arg) c.226G>A (p.Gly76Arg) | |
| 10 | g.70435553A= | CA1918249833 | NODAL | c.624T= (p.Gly208=) c.459T= (p.Gly153=) c.225T= (p.Gly75=) | |
| 10 | g.70435553A>C | CA470279576 | NODAL | c.624T>G (p.Gly208=) c.459T>G (p.Gly153=) c.225T>G (p.Gly75=) | dbSNP |
| 10 | g.70435553A>G | CA470279578 | NODAL | c.624T>C (p.Gly208=) c.459T>C (p.Gly153=) c.225T>C (p.Gly75=) | |
| 10 | g.70435553A>T | CA470279579 | NODAL | c.624T>A (p.Gly208=) c.459T>A (p.Gly153=) c.225T>A (p.Gly75=) | |
| 10 | g.70435553dup | CA2609507980 | NODAL | c.624dup (p.Gly209TrpfsTer?) c.459dup (p.Gly154TrpfsTer?) c.225dup (p.Gly76TrpfsTer?) | gnomAD v4 |
| 10 | g.70435554C>A | CA376945745 | NODAL | c.623G>T (p.Gly208Val) c.458G>T (p.Gly153Val) c.224G>T (p.Gly75Val) | |
| 10 | g.70435554C= | CA1918249834 | NODAL | c.623G= (p.Gly208=) c.458G= (p.Gly153=) c.224G= (p.Gly75=) | |
| 10 | g.70435554C>G | CA376945746 | NODAL | c.623G>C (p.Gly208Ala) c.458G>C (p.Gly153Ala) c.224G>C (p.Gly75Ala) | |
| 10 | g.70435554C>T | CA5537561 | NODAL | c.623G>A (p.Gly208Asp) c.458G>A (p.Gly153Asp) c.224G>A (p.Gly75Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70435555C>A | CA376945747 | NODAL | c.622G>T (p.Gly208Cys) c.457G>T (p.Gly153Cys) c.223G>T (p.Gly75Cys) | |
| 10 | g.70435555C= | CA1918249835 | NODAL | c.622G= (p.Gly208=) c.457G= (p.Gly153=) c.223G= (p.Gly75=) | |
| 10 | g.70435555C>G | CA376945748 | NODAL | c.622G>C (p.Gly208Arg) c.457G>C (p.Gly153Arg) c.223G>C (p.Gly75Arg) |