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 |
|---|---|---|---|---|---|
| 3 | g.15644513A= | CA1347663902 | BTD | c.597A= (p.Ala199=) c.399+2456A= (n.399+2456A=) c.165+2456A= (n.165+2456A=) c.657A= (p.Ala219=) c.663A= (p.Ala221=) c.375A= (p.Ala125=) c.*2375A= (n.*2375A=) | |
| 3 | g.15644513A>C | CA432819369 | BTD | c.597A>C (p.Ala199=) c.399+2456A>C (n.399+2456A>C) c.165+2456A>C (n.165+2456A>C) c.657A>C (p.Ala219=) c.663A>C (p.Ala221=) c.375A>C (p.Ala125=) c.*2375A>C (n.*2375A>C) | |
| 3 | g.15644513A>G | CA432819370 | BTD | c.597A>G (p.Ala199=) c.399+2456A>G (n.399+2456A>G) c.165+2456A>G (n.165+2456A>G) c.657A>G (p.Ala219=) c.663A>G (p.Ala221=) c.375A>G (p.Ala125=) c.*2375A>G (n.*2375A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644513A>T | CA432819371 | BTD | c.597A>T (p.Ala199=) c.399+2456A>T (n.399+2456A>T) c.165+2456A>T (n.165+2456A>T) c.657A>T (p.Ala219=) c.663A>T (p.Ala221=) c.375A>T (p.Ala125=) c.*2375A>T (n.*2375A>T) | |
| 3 | g.15644514G>A | CA351606772 | BTD | c.598G>A (p.Ala200Thr) c.399+2457G>A (n.399+2457G>A) c.165+2457G>A (n.165+2457G>A) c.658G>A (p.Ala220Thr) c.664G>A (p.Ala222Thr) c.376G>A (p.Ala126Thr) c.*2376G>A (n.*2376G>A) | |
| 3 | g.15644514G>C | CA351606773 | BTD | c.598G>C (p.Ala200Pro) c.399+2457G>C (n.399+2457G>C) c.165+2457G>C (n.165+2457G>C) c.658G>C (p.Ala220Pro) c.664G>C (p.Ala222Pro) c.376G>C (p.Ala126Pro) c.*2376G>C (n.*2376G>C) | |
| 3 | g.15644514G>T | CA351606774 | BTD | c.598G>T (p.Ala200Ser) c.399+2457G>T (n.399+2457G>T) c.165+2457G>T (n.165+2457G>T) c.658G>T (p.Ala220Ser) c.664G>T (p.Ala222Ser) c.376G>T (p.Ala126Ser) c.*2376G>T (n.*2376G>T) | |
| 3 | g.15644515C>A | CA351606775 | BTD | c.599C>A (p.Ala200Glu) c.399+2458C>A (n.399+2458C>A) c.165+2458C>A (n.165+2458C>A) c.659C>A (p.Ala220Glu) c.665C>A (p.Ala222Glu) c.377C>A (p.Ala126Glu) c.*2377C>A (n.*2377C>A) | gnomAD v4 |
| 3 | g.15644515C>G | CA351606776 | BTD | c.599C>G (p.Ala200Gly) c.399+2458C>G (n.399+2458C>G) c.165+2458C>G (n.165+2458C>G) c.659C>G (p.Ala220Gly) c.665C>G (p.Ala222Gly) c.377C>G (p.Ala126Gly) c.*2377C>G (n.*2377C>G) | |
| 3 | g.15644515C>T | CA351606777 | BTD | c.599C>T (p.Ala200Val) c.399+2458C>T (n.399+2458C>T) c.165+2458C>T (n.165+2458C>T) c.659C>T (p.Ala220Val) c.665C>T (p.Ala222Val) c.377C>T (p.Ala126Val) c.*2377C>T (n.*2377C>T) | |
| 3 | g.15644516A= | CA1347663906 | BTD | c.600A= (p.Ala200=) c.399+2459A= (n.399+2459A=) c.165+2459A= (n.165+2459A=) c.660A= (p.Ala220=) c.666A= (p.Ala222=) c.378A= (p.Ala126=) c.*2378A= (n.*2378A=) | |
| 3 | g.15644516A>C | CA432819375 | BTD | c.600A>C (p.Ala200=) c.399+2459A>C (n.399+2459A>C) c.165+2459A>C (n.165+2459A>C) c.660A>C (p.Ala220=) c.666A>C (p.Ala222=) c.378A>C (p.Ala126=) c.*2378A>C (n.*2378A>C) | |
| 3 | g.15644516A>G | CA2277357 | BTD | c.600A>G (p.Ala200=) c.399+2459A>G (n.399+2459A>G) c.165+2459A>G (n.165+2459A>G) c.660A>G (p.Ala220=) c.666A>G (p.Ala222=) c.378A>G (p.Ala126=) c.*2378A>G (n.*2378A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644516A>T | CA432819376 | BTD | c.600A>T (p.Ala200=) c.399+2459A>T (n.399+2459A>T) c.165+2459A>T (n.165+2459A>T) c.660A>T (p.Ala220=) c.666A>T (p.Ala222=) c.378A>T (p.Ala126=) c.*2378A>T (n.*2378A>T) | |
| 3 | g.15644517T>A | CA351606778 | BTD | c.601T>A (p.Phe201Ile) c.399+2460T>A (n.399+2460T>A) c.165+2460T>A (n.165+2460T>A) c.661T>A (p.Phe221Ile) c.667T>A (p.Phe223Ile) c.379T>A (p.Phe127Ile) c.*2379T>A (n.*2379T>A) | |
| 3 | g.15644517T>C | CA351606779 | BTD | c.601T>C (p.Phe201Leu) c.399+2460T>C (n.399+2460T>C) c.165+2460T>C (n.165+2460T>C) c.661T>C (p.Phe221Leu) c.667T>C (p.Phe223Leu) c.379T>C (p.Phe127Leu) c.*2379T>C (n.*2379T>C) | |
| 3 | g.15644517T>G | CA351606780 | BTD | c.601T>G (p.Phe201Val) c.399+2460T>G (n.399+2460T>G) c.165+2460T>G (n.165+2460T>G) c.661T>G (p.Phe221Val) c.667T>G (p.Phe223Val) c.379T>G (p.Phe127Val) c.*2379T>G (n.*2379T>G) | |
| 3 | g.15644518T>A | CA351606781 | BTD | c.602T>A (p.Phe201Tyr) c.399+2461T>A (n.399+2461T>A) c.165+2461T>A (n.165+2461T>A) c.662T>A (p.Phe221Tyr) c.668T>A (p.Phe223Tyr) c.380T>A (p.Phe127Tyr) c.*2380T>A (n.*2380T>A) | |
| 3 | g.15644518T>C | CA351606782 | BTD | c.602T>C (p.Phe201Ser) c.399+2461T>C (n.399+2461T>C) c.165+2461T>C (n.165+2461T>C) c.662T>C (p.Phe221Ser) c.668T>C (p.Phe223Ser) c.380T>C (p.Phe127Ser) c.*2380T>C (n.*2380T>C) | |
| 3 | g.15644518T>G | CA351606783 | BTD | c.602T>G (p.Phe201Cys) c.399+2461T>G (n.399+2461T>G) c.165+2461T>G (n.165+2461T>G) c.662T>G (p.Phe221Cys) c.668T>G (p.Phe223Cys) c.380T>G (p.Phe127Cys) c.*2380T>G (n.*2380T>G) | |
| 3 | g.15644519C>A | CA351606785 | BTD | c.603C>A (p.Phe201Leu) c.399+2462C>A (n.399+2462C>A) c.165+2462C>A (n.165+2462C>A) c.663C>A (p.Phe221Leu) c.669C>A (p.Phe223Leu) c.381C>A (p.Phe127Leu) c.*2381C>A (n.*2381C>A) | |
| 3 | g.15644519C= | CA1347663910 | BTD | c.603C= (p.Phe201=) c.399+2462C= (n.399+2462C=) c.165+2462C= (n.165+2462C=) c.663C= (p.Phe221=) c.669C= (p.Phe223=) c.381C= (p.Phe127=) c.*2381C= (n.*2381C=) | |
| 3 | g.15644519C>G | CA351606784 | BTD | c.603C>G (p.Phe201Leu) c.399+2462C>G (n.399+2462C>G) c.165+2462C>G (n.165+2462C>G) c.663C>G (p.Phe221Leu) c.669C>G (p.Phe223Leu) c.381C>G (p.Phe127Leu) c.*2381C>G (n.*2381C>G) | |
| 3 | g.15644519C>T | CA2277358 | BTD | c.603C>T (p.Phe201=) c.399+2462C>T (n.399+2462C>T) c.165+2462C>T (n.165+2462C>T) c.663C>T (p.Phe221=) c.669C>T (p.Phe223=) c.381C>T (p.Phe127=) c.*2381C>T (n.*2381C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644520G>A | CA2277359 | BTD | c.604G>A (p.Asp202Asn) c.399+2463G>A (n.399+2463G>A) c.165+2463G>A (n.165+2463G>A) c.664G>A (p.Asp222Asn) c.670G>A (p.Asp224Asn) c.382G>A (p.Asp128Asn) c.*2382G>A (n.*2382G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644520G>C | CA278366 | BTD | c.604G>C (p.Asp202His) c.399+2463G>C (n.399+2463G>C) c.165+2463G>C (n.165+2463G>C) c.664G>C (p.Asp222His) c.670G>C (p.Asp224His) c.382G>C (p.Asp128His) c.*2382G>C (n.*2382G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644520G= | CA1347663920 | BTD | c.604G= (p.Asp202=) c.399+2463G= (n.399+2463G=) c.165+2463G= (n.165+2463G=) c.664G= (p.Asp222=) c.670G= (p.Asp224=) c.382G= (p.Asp128=) c.*2382G= (n.*2382G=) | |
| 3 | g.15644520G>T | CA351606786 | BTD | c.604G>T (p.Asp202Tyr) c.399+2463G>T (n.399+2463G>T) c.165+2463G>T (n.165+2463G>T) c.664G>T (p.Asp222Tyr) c.670G>T (p.Asp224Tyr) c.382G>T (p.Asp128Tyr) c.*2382G>T (n.*2382G>T) | |
| 3 | g.15644521A= | CA1347663928 | BTD | c.605A= (p.Asp202=) c.399+2464A= (n.399+2464A=) c.165+2464A= (n.165+2464A=) c.665A= (p.Asp222=) c.671A= (p.Asp224=) c.383A= (p.Asp128=) c.*2383A= (n.*2383A=) | |
| 3 | g.15644521A>C | CA351606787 | BTD | c.605A>C (p.Asp202Ala) c.399+2464A>C (n.399+2464A>C) c.165+2464A>C (n.165+2464A>C) c.665A>C (p.Asp222Ala) c.671A>C (p.Asp224Ala) c.383A>C (p.Asp128Ala) c.*2383A>C (n.*2383A>C) | |
| 3 | g.15644521A>G | CA351606788 | BTD | c.605A>G (p.Asp202Gly) c.399+2464A>G (n.399+2464A>G) c.165+2464A>G (n.165+2464A>G) c.665A>G (p.Asp222Gly) c.671A>G (p.Asp224Gly) c.383A>G (p.Asp128Gly) c.*2383A>G (n.*2383A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644521A>T | CA351606789 | BTD | c.605A>T (p.Asp202Val) c.399+2464A>T (n.399+2464A>T) c.165+2464A>T (n.165+2464A>T) c.665A>T (p.Asp222Val) c.671A>T (p.Asp224Val) c.383A>T (p.Asp128Val) c.*2383A>T (n.*2383A>T) | |
| 3 | g.15644522T>A | CA351606790 | BTD | c.606T>A (p.Asp202Glu) c.399+2465T>A (n.399+2465T>A) c.165+2465T>A (n.165+2465T>A) c.666T>A (p.Asp222Glu) c.672T>A (p.Asp224Glu) c.384T>A (p.Asp128Glu) c.*2384T>A (n.*2384T>A) | ClinVar |
| 3 | g.15644522T>C | CA432819377 | BTD | c.606T>C (p.Asp202=) c.399+2465T>C (n.399+2465T>C) c.165+2465T>C (n.165+2465T>C) c.666T>C (p.Asp222=) c.672T>C (p.Asp224=) c.384T>C (p.Asp128=) c.*2384T>C (n.*2384T>C) | dbSNP |
| 3 | g.15644522T>G | CA351606791 | BTD | c.606T>G (p.Asp202Glu) c.399+2465T>G (n.399+2465T>G) c.165+2465T>G (n.165+2465T>G) c.666T>G (p.Asp222Glu) c.672T>G (p.Asp224Glu) c.384T>G (p.Asp128Glu) c.*2384T>G (n.*2384T>G) | |
| 3 | g.15644522T= | CA1347663930 | BTD | c.606T= (p.Asp202=) c.399+2465T= (n.399+2465T=) c.165+2465T= (n.165+2465T=) c.666T= (p.Asp222=) c.672T= (p.Asp224=) c.384T= (p.Asp128=) c.*2384T= (n.*2384T=) | |
| 3 | g.15644523G>A | CA351606792 | BTD | c.607G>A (p.Val203Ile) c.399+2466G>A (n.399+2466G>A) c.165+2466G>A (n.165+2466G>A) c.667G>A (p.Val223Ile) c.673G>A (p.Val225Ile) c.385G>A (p.Val129Ile) c.*2385G>A (n.*2385G>A) | gnomAD v4 |
| 3 | g.15644523G>C | CA351606793 | BTD | c.607G>C (p.Val203Leu) c.399+2466G>C (n.399+2466G>C) c.165+2466G>C (n.165+2466G>C) c.667G>C (p.Val223Leu) c.673G>C (p.Val225Leu) c.385G>C (p.Val129Leu) c.*2385G>C (n.*2385G>C) | |
| 3 | g.15644523G>T | CA351606794 | BTD | c.607G>T (p.Val203Phe) c.399+2466G>T (n.399+2466G>T) c.165+2466G>T (n.165+2466G>T) c.667G>T (p.Val223Phe) c.673G>T (p.Val225Phe) c.385G>T (p.Val129Phe) c.*2385G>T (n.*2385G>T) | |
| 3 | g.15644524T>A | CA351606795 | BTD | c.608T>A (p.Val203Asp) c.399+2467T>A (n.399+2467T>A) c.165+2467T>A (n.165+2467T>A) c.668T>A (p.Val223Asp) c.674T>A (p.Val225Asp) c.386T>A (p.Val129Asp) c.*2386T>A (n.*2386T>A) | |
| 3 | g.15644524T>C | CA351606796 | BTD | c.608T>C (p.Val203Ala) c.399+2467T>C (n.399+2467T>C) c.165+2467T>C (n.165+2467T>C) c.668T>C (p.Val223Ala) c.674T>C (p.Val225Ala) c.386T>C (p.Val129Ala) c.*2386T>C (n.*2386T>C) | |
| 3 | g.15644524T>G | CA351606797 | BTD | c.608T>G (p.Val203Gly) c.399+2467T>G (n.399+2467T>G) c.165+2467T>G (n.165+2467T>G) c.668T>G (p.Val223Gly) c.674T>G (p.Val225Gly) c.386T>G (p.Val129Gly) c.*2386T>G (n.*2386T>G) | |
| 3 | g.15644525T>A | CA432819379 | BTD | c.609T>A (p.Val203=) c.399+2468T>A (n.399+2468T>A) c.165+2468T>A (n.165+2468T>A) c.669T>A (p.Val223=) c.675T>A (p.Val225=) c.387T>A (p.Val129=) c.*2387T>A (n.*2387T>A) | |
| 3 | g.15644525T>C | CA432819381 | BTD | c.609T>C (p.Val203=) c.399+2468T>C (n.399+2468T>C) c.165+2468T>C (n.165+2468T>C) c.669T>C (p.Val223=) c.675T>C (p.Val225=) c.387T>C (p.Val129=) c.*2387T>C (n.*2387T>C) | COSMIC |
| 3 | g.15644525T>G | CA432819380 | BTD | c.609T>G (p.Val203=) c.399+2468T>G (n.399+2468T>G) c.165+2468T>G (n.165+2468T>G) c.669T>G (p.Val223=) c.675T>G (p.Val225=) c.387T>G (p.Val129=) c.*2387T>G (n.*2387T>G) | |
| 3 | g.15644526C>A | CA351606799 | BTD | c.610C>A (p.Pro204Thr) c.399+2469C>A (n.399+2469C>A) c.165+2469C>A (n.165+2469C>A) c.670C>A (p.Pro224Thr) c.676C>A (p.Pro226Thr) c.388C>A (p.Pro130Thr) c.*2388C>A (n.*2388C>A) | |
| 3 | g.15644526C= | CA1347663932 | BTD | c.610C= (p.Pro204=) c.399+2469C= (n.399+2469C=) c.165+2469C= (n.165+2469C=) c.670C= (p.Pro224=) c.676C= (p.Pro226=) c.388C= (p.Pro130=) c.*2388C= (n.*2388C=) | |
| 3 | g.15644526C>G | CA70621853 | BTD | c.610C>G (p.Pro204Ala) c.399+2469C>G (n.399+2469C>G) c.165+2469C>G (n.165+2469C>G) c.670C>G (p.Pro224Ala) c.676C>G (p.Pro226Ala) c.388C>G (p.Pro130Ala) c.*2388C>G (n.*2388C>G) | dbSNP gnomAD v4 |
| 3 | g.15644526C>T | CA351606798 | BTD | c.610C>T (p.Pro204Ser) c.399+2469C>T (n.399+2469C>T) c.165+2469C>T (n.165+2469C>T) c.670C>T (p.Pro224Ser) c.676C>T (p.Pro226Ser) c.388C>T (p.Pro130Ser) c.*2388C>T (n.*2388C>T) | gnomAD v4 |
| 3 | g.15644527C>A | CA351606800 | BTD | c.611C>A (p.Pro204His) c.399+2470C>A (n.399+2470C>A) c.165+2470C>A (n.165+2470C>A) c.671C>A (p.Pro224His) c.677C>A (p.Pro226His) c.389C>A (p.Pro130His) c.*2389C>A (n.*2389C>A) |