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.4182C>A | CA414774368 | MT-ND1 | c.876C>A (p.Asn292Lys) | |
| MT | m.4182C= | CA2499563770 | MT-ND1 | c.876C= (p.Asn292=) | |
| MT | m.4182C>G | CA414774369 | MT-ND1 | c.876C>G (p.Asn292Lys) | |
| MT | m.4182C>T | CA913177128 | MT-ND1 | c.876C>T (p.Asn292=) | dbSNP |
| MT | m.4183T>A | CA414774371 | MT-ND1 | c.877T>A (p.Phe293Ile) | |
| MT | m.4183T>C | CA414774372 | MT-ND1 | c.877T>C (p.Phe293Leu) | |
| MT | m.4183T>G | CA414774370 | MT-ND1 | c.877T>G (p.Phe293Val) | |
| MT | m.4183T= | CA2573329397 | MT-ND1 | c.877T= (p.Phe293=) | |
| MT | m.4184T>A | CA414774373 | MT-ND1 | c.878T>A (p.Phe293Tyr) | |
| MT | m.4184T>C | CA414774374 | MT-ND1 | c.878T>C (p.Phe293Ser) | |
| MT | m.4184T>G | CA414774375 | MT-ND1 | c.878T>G (p.Phe293Cys) | |
| MT | m.4184T= | CA2573329399 | MT-ND1 | c.878T= (p.Phe293=) | |
| MT | m.4185C>A | CA414774376 | MT-ND1 | c.879C>A (p.Phe293Leu) | |
| MT | m.4185C= | CA2573329401 | MT-ND1 | c.879C= (p.Phe293=) | |
| MT | m.4185C>G | CA414774377 | MT-ND1 | c.879C>G (p.Phe293Leu) | |
| MT | m.4185C>T | CA913177139 | MT-ND1 | c.879C>T (p.Phe293=) | dbSNP |
| MT | m.4186C>A | CA414774378 | MT-ND1 | c.880C>A (p.Leu294Ile) | |
| MT | m.4186C= | CA2499563771 | MT-ND1 | c.880C= (p.Leu294=) | |
| MT | m.4186C>G | CA414774379 | MT-ND1 | c.880C>G (p.Leu294Val) | |
| MT | m.4186C>T | CA913177142 | MT-ND1 | c.880C>T (p.Leu294=) | dbSNP |
| MT | m.4187T>A | CA414774380 | MT-ND1 | c.881T>A (p.Leu294Gln) | |
| MT | m.4187T>C | CA414774381 | MT-ND1 | c.881T>C (p.Leu294Pro) | dbSNP |
| MT | m.4187T>G | CA414774382 | MT-ND1 | c.881T>G (p.Leu294Arg) | |
| MT | m.4187T= | CA2499563772 | MT-ND1 | c.881T= (p.Leu294=) | |
| MT | m.4188A= | CA2499563773 | MT-ND1 | c.882A= (p.Leu294=) | |
| MT | m.4188A>C | CA913177166 | MT-ND1 | c.882A>C (p.Leu294=) | |
| MT | m.4188A>G | CA913177161 | MT-ND1 | c.882A>G (p.Leu294=) | dbSNP |
| MT | m.4188A>T | CA913177150 | MT-ND1 | c.882A>T (p.Leu294=) | dbSNP |
| MT | m.4189C>A | CA414774383 | MT-ND1 | c.883C>A (p.Pro295Thr) | |
| MT | m.4189C= | CA2573329405 | MT-ND1 | c.883C= (p.Pro295=) | |
| MT | m.4189C>G | CA414774384 | MT-ND1 | c.883C>G (p.Pro295Ala) | |
| MT | m.4189C>T | CA414774385 | MT-ND1 | c.883C>T (p.Pro295Ser) | |
| 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=) |