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 |
|---|---|---|---|---|---|
| 6 | g.167341387A>C | CA366424665 | TTLL2 | c.1487A>C (p.Asp496Ala) c.1268A>C (p.Asp423Ala) | |
| 6 | g.167341387A>G | CA366424666 | TTLL2 | c.1487A>G (p.Asp496Gly) c.1268A>G (p.Asp423Gly) | gnomAD v4 |
| 6 | g.167341387A>T | CA366424667 | TTLL2 | c.1487A>T (p.Asp496Val) c.1268A>T (p.Asp423Val) | |
| 6 | g.167341388T>A | CA366424668 | TTLL2 | c.1488T>A (p.Asp496Glu) c.1269T>A (p.Asp423Glu) | gnomAD v4 |
| 6 | g.167341388T>C | CA453305314 | TTLL2 | c.1488T>C (p.Asp496=) c.1269T>C (p.Asp423=) | |
| 6 | g.167341388T>G | CA366424669 | TTLL2 | c.1488T>G (p.Asp496Glu) c.1269T>G (p.Asp423Glu) | COSMIC |
| 6 | g.167341389T>A | CA366424670 | TTLL2 | c.1489T>A (p.Phe497Ile) c.1270T>A (p.Phe424Ile) | |
| 6 | g.167341389T>C | CA366424671 | TTLL2 | c.1489T>C (p.Phe497Leu) c.1270T>C (p.Phe424Leu) | |
| 6 | g.167341389T>G | CA366424672 | TTLL2 | c.1489T>G (p.Phe497Val) c.1270T>G (p.Phe424Val) | |
| 6 | g.167341390T>A | CA366424673 | TTLL2 | c.1490T>A (p.Phe497Tyr) c.1271T>A (p.Phe424Tyr) | |
| 6 | g.167341390T>C | CA366424674 | TTLL2 | c.1490T>C (p.Phe497Ser) c.1271T>C (p.Phe424Ser) | |
| 6 | g.167341390T>G | CA366424675 | TTLL2 | c.1490T>G (p.Phe497Cys) c.1271T>G (p.Phe424Cys) | |
| 6 | g.167341391T>A | CA366424676 | TTLL2 | c.1491T>A (p.Phe497Leu) c.1272T>A (p.Phe424Leu) | |
| 6 | g.167341391T>C | CA453305322 | TTLL2 | c.1491T>C (p.Phe497=) c.1272T>C (p.Phe424=) | |
| 6 | g.167341391T>G | CA366424677 | TTLL2 | c.1491T>G (p.Phe497Leu) c.1272T>G (p.Phe424Leu) | |
| 6 | g.167341392C>A | CA366424678 | TTLL2 | c.1492C>A (p.His498Asn) c.1273C>A (p.His425Asn) | |
| 6 | g.167341392C>G | CA366424679 | TTLL2 | c.1492C>G (p.His498Asp) c.1273C>G (p.His425Asp) | |
| 6 | g.167341392C>T | CA366424680 | TTLL2 | c.1492C>T (p.His498Tyr) c.1273C>T (p.His425Tyr) | gnomAD v4 COSMIC |
| 6 | g.167341393A>C | CA366424683 | TTLL2 | c.1493A>C (p.His498Pro) c.1274A>C (p.His425Pro) | |
| 6 | g.167341393A>G | CA366424682 | TTLL2 | c.1493A>G (p.His498Arg) c.1274A>G (p.His425Arg) | |
| 6 | g.167341393A>T | CA366424681 | TTLL2 | c.1493A>T (p.His498Leu) c.1274A>T (p.His425Leu) | |
| 6 | g.167341394T>A | CA366424684 | TTLL2 | c.1494T>A (p.His498Gln) c.1275T>A (p.His425Gln) | |
| 6 | g.167341394T>C | CA453305327 | TTLL2 | c.1494T>C (p.His498=) c.1275T>C (p.His425=) | |
| 6 | g.167341394T>G | CA366424685 | TTLL2 | c.1494T>G (p.His498Gln) c.1275T>G (p.His425Gln) | |
| 6 | g.167341395C>A | CA366424686 | TTLL2 | c.1495C>A (p.Leu499Met) c.1276C>A (p.Leu426Met) | |
| 6 | g.167341395C>G | CA366424687 | TTLL2 | c.1495C>G (p.Leu499Val) c.1276C>G (p.Leu426Val) | |
| 6 | g.167341395C>T | CA453305329 | TTLL2 | c.1495C>T (p.Leu499=) c.1276C>T (p.Leu426=) | gnomAD v4 |
| 6 | g.167341396T>A | CA366424688 | TTLL2 | c.1496T>A (p.Leu499Gln) c.1277T>A (p.Leu426Gln) | |
| 6 | g.167341396T>C | CA366424689 | TTLL2 | c.1496T>C (p.Leu499Pro) c.1277T>C (p.Leu426Pro) | dbSNP |
| 6 | g.167341396T>G | CA366424690 | TTLL2 | c.1496T>G (p.Leu499Arg) c.1277T>G (p.Leu426Arg) | |
| 6 | g.167341396T= | CA1680342082 | TTLL2 | c.1496T= (p.Leu499=) c.1277T= (p.Leu426=) | |
| 6 | g.167341397G>A | CA453305331 | TTLL2 | c.1497G>A (p.Leu499=) c.1278G>A (p.Leu426=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.167341397G>C | CA453305332 | TTLL2 | c.1497G>C (p.Leu499=) c.1278G>C (p.Leu426=) | |
| 6 | g.167341397G= | CA1680342083 | TTLL2 | c.1497G= (p.Leu499=) c.1278G= (p.Leu426=) | |
| 6 | g.167341397G>T | CA453305333 | TTLL2 | c.1497G>T (p.Leu499=) c.1278G>T (p.Leu426=) | |
| 6 | g.167341398T>A | CA366424691 | TTLL2 | c.1498T>A (p.Ser500Thr) c.1279T>A (p.Ser427Thr) | |
| 6 | g.167341398T>C | CA366424692 | TTLL2 | c.1498T>C (p.Ser500Pro) c.1279T>C (p.Ser427Pro) | |
| 6 | g.167341398T>G | CA366424693 | TTLL2 | c.1498T>G (p.Ser500Ala) c.1279T>G (p.Ser427Ala) | |
| 6 | g.167341399C>A | CA366424694 | TTLL2 | c.1499C>A (p.Ser500Ter) c.1280C>A (p.Ser427Ter) | |
| 6 | g.167341399C= | CA1680342084 | TTLL2 | c.1499C= (p.Ser500=) c.1280C= (p.Ser427=) | |
| 6 | g.167341399C>G | CA4097547 | TTLL2 | c.1499C>G (p.Ser500Ter) c.1280C>G (p.Ser427Ter) | dbSNP ExAC gnomAD v2 COSMIC |
| 6 | g.167341399C>T | CA366424695 | TTLL2 | c.1499C>T (p.Ser500Leu) c.1280C>T (p.Ser427Leu) | |
| 6 | g.167341400A>C | CA453305338 | TTLL2 | c.1500A>C (p.Ser500=) c.1281A>C (p.Ser427=) | |
| 6 | g.167341400A>G | CA453305339 | TTLL2 | c.1500A>G (p.Ser500=) c.1281A>G (p.Ser427=) | |
| 6 | g.167341400A>T | CA453305340 | TTLL2 | c.1500A>T (p.Ser500=) c.1281A>T (p.Ser427=) | gnomAD v4 |
| 6 | g.167341401A= | CA1680342085 | TTLL2 | c.1501A= (p.Thr501=) c.1282A= (p.Thr428=) | |
| 6 | g.167341401A>C | CA366424698 | TTLL2 | c.1501A>C (p.Thr501Pro) c.1282A>C (p.Thr428Pro) | dbSNP gnomAD v2 |
| 6 | g.167341401A>G | CA366424697 | TTLL2 | c.1501A>G (p.Thr501Ala) c.1282A>G (p.Thr428Ala) | gnomAD v4 |
| 6 | g.167341401A>T | CA366424696 | TTLL2 | c.1501A>T (p.Thr501Ser) c.1282A>T (p.Thr428Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.167341402C>A | CA366424700 | TTLL2 | c.1502C>A (p.Thr501Lys) c.1283C>A (p.Thr428Lys) |