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 |
|---|---|---|---|---|---|
| MT | m.4190C>A | CA414774386 | MT-ND1 | c.884C>A (p.Pro295Gln) | |
| MT | m.4190C= | CA2573329408 | MT-ND1 | c.884C= (p.Pro295=) | |
| MT | m.4190C>G | CA414774388 | MT-ND1 | c.884C>G (p.Pro295Arg) | |
| MT | m.4190C>T | CA414774387 | MT-ND1 | c.884C>T (p.Pro295Leu) | |
| MT | m.4191A= | CA2573329409 | MT-ND1 | c.885A= (p.Pro295=) | |
| MT | m.4191A>C | CA913177184 | MT-ND1 | c.885A>C (p.Pro295=) | |
| MT | m.4191A>G | CA913177187 | MT-ND1 | c.885A>G (p.Pro295=) | dbSNP |
| MT | m.4191A>T | CA913177188 | MT-ND1 | c.885A>T (p.Pro295=) | |
| MT | m.4192C>A | CA414774389 | MT-ND1 | c.886C>A (p.Leu296Ile) | |
| MT | m.4192C= | CA2573329410 | MT-ND1 | c.886C= (p.Leu296=) | |
| MT | m.4192C>G | CA414774390 | MT-ND1 | c.886C>G (p.Leu296Val) | |
| MT | m.4192C>T | CA414774391 | MT-ND1 | c.886C>T (p.Leu296Phe) | |
| MT | m.4193T>A | CA414774392 | MT-ND1 | c.887T>A (p.Leu296His) | |
| MT | m.4193T>C | CA414774393 | MT-ND1 | c.887T>C (p.Leu296Pro) | ClinVar dbSNP |
| MT | m.4193T>G | CA414774394 | MT-ND1 | c.887T>G (p.Leu296Arg) | |
| MT | m.4193T= | CA2499563774 | MT-ND1 | c.887T= (p.Leu296=) | |
| MT | m.4194C>A | CA913177201 | MT-ND1 | c.888C>A (p.Leu296=) | |
| MT | m.4194C= | CA2499563775 | MT-ND1 | c.888C= (p.Leu296=) | |
| MT | m.4194C>G | CA913177204 | MT-ND1 | c.888C>G (p.Leu296=) | |
| MT | m.4194C>T | CA913177205 | MT-ND1 | c.888C>T (p.Leu296=) | dbSNP |
| MT | m.4195A= | CA2573329414 | MT-ND1 | c.889A= (p.Thr297=) | |
| MT | m.4195A>C | CA414774395 | MT-ND1 | c.889A>C (p.Thr297Pro) | |
| MT | m.4195A>G | CA414774396 | MT-ND1 | c.889A>G (p.Thr297Ala) | |
| MT | m.4195A>T | CA414774397 | MT-ND1 | c.889A>T (p.Thr297Ser) | |
| MT | m.4196C>A | CA414774398 | MT-ND1 | c.890C>A (p.Thr297Asn) | |
| MT | m.4196C= | CA2573329418 | MT-ND1 | c.890C= (p.Thr297=) | |
| MT | m.4196C>G | CA414774400 | MT-ND1 | c.890C>G (p.Thr297Ser) | |
| MT | m.4196C>T | CA414774399 | MT-ND1 | c.890C>T (p.Thr297Ile) | |
| MT | m.4197C>A | CA913177218 | MT-ND1 | c.891C>A (p.Thr297=) | |
| MT | m.4197C= | CA2499563776 | MT-ND1 | c.891C= (p.Thr297=) | |
| MT | m.4197C>G | CA913177219 | MT-ND1 | c.891C>G (p.Thr297=) | |
| MT | m.4197C>T | CA913177220 | MT-ND1 | c.891C>T (p.Thr297=) | dbSNP |
| MT | m.4198C>A | CA414774401 | MT-ND1 | c.892C>A (p.Leu298Ile) | |
| MT | m.4198C= | CA2499563777 | MT-ND1 | c.892C= (p.Leu298=) | |
| MT | m.4198C>G | CA414774402 | MT-ND1 | c.892C>G (p.Leu298Val) | |
| MT | m.4198C>T | CA337096819 | MT-ND1 | c.892C>T (p.Leu298=) | dbSNP |
| MT | m.4199T>A | CA414774403 | MT-ND1 | c.893T>A (p.Leu298Gln) | |
| MT | m.4199T>C | CA414774404 | MT-ND1 | c.893T>C (p.Leu298Pro) | |
| MT | m.4199T>G | CA414774405 | MT-ND1 | c.893T>G (p.Leu298Arg) | |
| MT | m.4199T= | CA2513226723 | MT-ND1 | c.893T= (p.Leu298=) | |
| MT | m.4200A= | CA2499563778 | MT-ND1 | c.894A= (p.Leu298=) | |
| MT | m.4200A>C | CA913177232 | MT-ND1 | c.894A>C (p.Leu298=) | |
| MT | m.4200A>G | CA913177233 | MT-ND1 | c.894A>G (p.Leu298=) | dbSNP |
| MT | m.4200A>T | CA913177235 | MT-ND1 | c.894A>T (p.Leu298=) | dbSNP |
| MT | m.4201G>A | CA414774406 | MT-ND1 | c.895G>A (p.Ala299Thr) | |
| MT | m.4201G>C | CA414774407 | MT-ND1 | c.895G>C (p.Ala299Pro) | |
| MT | m.4201G= | CA2573329422 | MT-ND1 | c.895G= (p.Ala299=) | |
| MT | m.4201G>T | CA414774408 | MT-ND1 | c.895G>T (p.Ala299Ser) | |
| MT | m.4202C>A | CA414774409 | MT-ND1 | c.896C>A (p.Ala299Glu) | |
| MT | m.4202C= | CA2573329424 | MT-ND1 | c.896C= (p.Ala299=) |