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.70435435G>A | CA16618976 | NODAL | c.742C>T (p.Arg248Trp) c.577C>T (p.Arg193Trp) c.343C>T (p.Arg115Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.70435435G>C | CA376945483 | NODAL | c.742C>G (p.Arg248Gly) c.577C>G (p.Arg193Gly) c.343C>G (p.Arg115Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70435435G= | CA1918249785 | NODAL | c.742C= (p.Arg248=) c.577C= (p.Arg193=) c.343C= (p.Arg115=) | |
| 10 | g.70435435G>T | CA470279245 | NODAL | c.742C>A (p.Arg248=) c.577C>A (p.Arg193=) c.343C>A (p.Arg115=) | |
| 10 | g.70435436A>C | CA376945484 | NODAL | c.741T>G (p.Cys247Trp) c.576T>G (p.Cys192Trp) c.342T>G (p.Cys114Trp) | |
| 10 | g.70435436A>G | CA470279247 | NODAL | c.741T>C (p.Cys247=) c.576T>C (p.Cys192=) c.342T>C (p.Cys114=) | |
| 10 | g.70435436A>T | CA376945485 | NODAL | c.741T>A (p.Cys247Ter) c.576T>A (p.Cys192Ter) c.342T>A (p.Cys114Ter) | |
| 10 | g.70435437C>A | CA376945486 | NODAL | c.740G>T (p.Cys247Phe) c.575G>T (p.Cys192Phe) c.341G>T (p.Cys114Phe) | |
| 10 | g.70435437C>G | CA376945487 | NODAL | c.740G>C (p.Cys247Ser) c.575G>C (p.Cys192Ser) c.341G>C (p.Cys114Ser) | |
| 10 | g.70435437C>T | CA376945488 | NODAL | c.740G>A (p.Cys247Tyr) c.575G>A (p.Cys192Tyr) c.341G>A (p.Cys114Tyr) | |
| 10 | g.70435438A>C | CA376945491 | NODAL | c.739T>G (p.Cys247Gly) c.574T>G (p.Cys192Gly) c.340T>G (p.Cys114Gly) | |
| 10 | g.70435438A>G | CA376945490 | NODAL | c.739T>C (p.Cys247Arg) c.574T>C (p.Cys192Arg) c.340T>C (p.Cys114Arg) | |
| 10 | g.70435438A>T | CA376945489 | NODAL | c.739T>A (p.Cys247Ser) c.574T>A (p.Cys192Ser) c.340T>A (p.Cys114Ser) | |
| 10 | g.70435439C>A | CA470279255 | NODAL | c.738G>T (p.Leu246=) c.573G>T (p.Leu191=) c.339G>T (p.Leu113=) | |
| 10 | g.70435439C>G | CA470279257 | NODAL | c.738G>C (p.Leu246=) c.573G>C (p.Leu191=) c.339G>C (p.Leu113=) | |
| 10 | g.70435439C>T | CA470279258 | NODAL | c.738G>A (p.Leu246=) c.573G>A (p.Leu191=) c.339G>A (p.Leu113=) | |
| 10 | g.70435440A>C | CA376945492 | NODAL | c.737T>G (p.Leu246Arg) c.572T>G (p.Leu191Arg) c.338T>G (p.Leu113Arg) | |
| 10 | g.70435440A>G | CA376945493 | NODAL | c.737T>C (p.Leu246Pro) c.572T>C (p.Leu191Pro) c.338T>C (p.Leu113Pro) | gnomAD v4 |
| 10 | g.70435440A>T | CA376945494 | NODAL | c.737T>A (p.Leu246Gln) c.572T>A (p.Leu191Gln) c.338T>A (p.Leu113Gln) | |
| 10 | g.70435441G>A | CA470279262 | NODAL | c.736C>T (p.Leu246=) c.571C>T (p.Leu191=) c.337C>T (p.Leu113=) | |
| 10 | g.70435441G>C | CA376945495 | NODAL | c.736C>G (p.Leu246Val) c.571C>G (p.Leu191Val) c.337C>G (p.Leu113Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.70435441G= | CA1918249786 | NODAL | c.736C= (p.Leu246=) c.571C= (p.Leu191=) c.337C= (p.Leu113=) | |
| 10 | g.70435441G>T | CA376945496 | NODAL | c.736C>A (p.Leu246Met) c.571C>A (p.Leu191Met) c.337C>A (p.Leu113Met) | |
| 10 | g.70435442T>A | CA376945497 | NODAL | c.735A>T (p.Gln245His) c.570A>T (p.Gln190His) c.336A>T (p.Gln112His) | |
| 10 | g.70435442T>C | CA470279266 | NODAL | c.735A>G (p.Gln245=) c.570A>G (p.Gln190=) c.336A>G (p.Gln112=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70435442T>G | CA376945498 | NODAL | c.735A>C (p.Gln245His) c.570A>C (p.Gln190His) c.336A>C (p.Gln112His) | |
| 10 | g.70435442T= | CA1918249787 | NODAL | c.735A= (p.Gln245=) c.570A= (p.Gln190=) c.336A= (p.Gln112=) | |
| 10 | g.70435443del | CA2695196529 | NODAL | c.735del (p.Gln245HisfsTer14) c.570del (p.Gln190HisfsTer14) c.336del (p.Gln112HisfsTer14) | |
| 10 | g.70435443T>A | CA376945499 | NODAL | c.734A>T (p.Gln245Leu) c.569A>T (p.Gln190Leu) c.335A>T (p.Gln112Leu) | gnomAD v4 |
| 10 | g.70435443T>C | CA376945500 | NODAL | c.734A>G (p.Gln245Arg) c.569A>G (p.Gln190Arg) c.335A>G (p.Gln112Arg) | |
| 10 | g.70435443T>G | CA376945501 | NODAL | c.734A>C (p.Gln245Pro) c.569A>C (p.Gln190Pro) c.335A>C (p.Gln112Pro) | |
| 10 | g.70435444G>A | CA376945502 | NODAL | c.733C>T (p.Gln245Ter) c.568C>T (p.Gln190Ter) c.334C>T (p.Gln112Ter) | |
| 10 | g.70435444G>C | CA376945503 | NODAL | c.733C>G (p.Gln245Glu) c.568C>G (p.Gln190Glu) c.334C>G (p.Gln112Glu) | dbSNP |
| 10 | g.70435444G= | CA1918249788 | NODAL | c.733C= (p.Gln245=) c.568C= (p.Gln190=) c.334C= (p.Gln112=) | |
| 10 | g.70435444G>T | CA376945504 | NODAL | c.733C>A (p.Gln245Lys) c.568C>A (p.Gln190Lys) c.334C>A (p.Gln112Lys) | |
| 10 | g.70435445A>C | CA376945506 | NODAL | c.732T>G (p.Ser244Arg) c.567T>G (p.Ser189Arg) c.333T>G (p.Ser111Arg) | |
| 10 | g.70435445A>G | CA470279274 | NODAL | c.732T>C (p.Ser244=) c.567T>C (p.Ser189=) c.333T>C (p.Ser111=) | |
| 10 | g.70435445A>T | CA376945505 | NODAL | c.732T>A (p.Ser244Arg) c.567T>A (p.Ser189Arg) c.333T>A (p.Ser111Arg) | |
| 10 | g.70435446C>A | CA376945507 | NODAL | c.731G>T (p.Ser244Ile) c.566G>T (p.Ser189Ile) c.332G>T (p.Ser111Ile) | |
| 10 | g.70435446C= | CA1918249789 | NODAL | c.731G= (p.Ser244=) c.566G= (p.Ser189=) c.332G= (p.Ser111=) | |
| 10 | g.70435446C>G | CA5537540 | NODAL | c.731G>C (p.Ser244Thr) c.566G>C (p.Ser189Thr) c.332G>C (p.Ser111Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.70435446C>T | CA376945508 | NODAL | c.731G>A (p.Ser244Asn) c.566G>A (p.Ser189Asn) c.332G>A (p.Ser111Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.70435447T>A | CA376945509 | NODAL | c.730A>T (p.Ser244Cys) c.565A>T (p.Ser189Cys) c.331A>T (p.Ser111Cys) | |
| 10 | g.70435447T>C | CA376945511 | NODAL | c.730A>G (p.Ser244Gly) c.565A>G (p.Ser189Gly) c.331A>G (p.Ser111Gly) | |
| 10 | g.70435447T>G | CA376945510 | NODAL | c.730A>C (p.Ser244Arg) c.565A>C (p.Ser189Arg) c.331A>C (p.Ser111Arg) | |
| 10 | g.70435448T>A | CA376945512 | NODAL | c.729A>T (p.Arg243Ser) c.564A>T (p.Arg188Ser) c.330A>T (p.Arg110Ser) | |
| 10 | g.70435448T>C | CA470279280 | NODAL | c.729A>G (p.Arg243=) c.564A>G (p.Arg188=) c.330A>G (p.Arg110=) | |
| 10 | g.70435448T>G | CA376945513 | NODAL | c.729A>C (p.Arg243Ser) c.564A>C (p.Arg188Ser) c.330A>C (p.Arg110Ser) | |
| 10 | g.70435452_70435455del | CA2609507836 | NODAL | c.726_729del (p.Asp242GlufsTer16) c.561_564del (p.Asp187GlufsTer16) c.327_330del (p.Asp109GlufsTer16) | gnomAD v4 |
| 10 | g.70435449C>A | CA376945514 | NODAL | c.728G>T (p.Arg243Ile) c.563G>T (p.Arg188Ile) c.329G>T (p.Arg110Ile) |