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.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.10950_15540del | CA2580102079 | ClinVar | ||
| MT | m.11263_15374del | CA645373341 | ClinVar | ||
| MT | m.15167T>A | CA913173132 | MT-CYB | c.421T>A (p.Ter141Arg) | |
| MT | m.15167T>C | CA913173131 | MT-CYB | c.421T>C (p.Ter141Arg) | |
| MT | m.15167T>G | CA913173130 | MT-CYB | c.421T>G (p.Ter141Gly) | |
| MT | m.15167T= | CA2573328610 | MT-CYB | c.421T= (p.Ter141=) | |
| MT | m.15168G>A | CA913173135 | MT-CYB | c.422G>A (p.Ter141=) | |
| MT | m.15168G>C | CA913173134 | MT-CYB | c.422G>C (p.Ter141Ser) | |
| MT | m.15168G= | CA2573328613 | MT-CYB | c.422G= (p.Ter141=) | |
| MT | m.15168G>T | CA913173133 | MT-CYB | c.422G>T (p.Ter141Leu) | |
| MT | m.15169del | CA2573105325 | MT-CYB | c.423del (p.Ter141TrpextTer5) | |
| MT | m.15169A= | CA2573328615 | MT-CYB | c.423A= (p.Ter141=) | |
| MT | m.15169A>C | CA913173136 | MT-CYB | c.423A>C (p.Ter141Cys) | |
| MT | m.15169A>G | CA913173138 | MT-CYB | c.423A>G (p.Ter141Trp) | |
| MT | m.15169A>T | CA913173137 | MT-CYB | c.423A>T (p.Ter141Cys) | |
| MT | m.15170G>A | CA913173140 | MT-CYB | c.424G>A (p.Gly142Arg) | ClinVar dbSNP |
| MT | m.15170G>C | CA913173139 | MT-CYB | c.424G>C (p.Gly142Arg) | |
| MT | m.15170G= | CA2573328619 | MT-CYB | c.424G= (p.Gly142=) | |
| MT | m.15170G>T | CA913173141 | MT-CYB | c.424G>T (p.Gly142Trp) | |
| MT | m.15171G>A | CA913173142 | MT-CYB | c.425G>A (p.Gly142Glu) | |
| MT | m.15171G>C | CA913173143 | MT-CYB | c.425G>C (p.Gly142Ala) | |
| MT | m.15171G= | CA2573328623 | MT-CYB | c.425G= (p.Gly142=) | |
| MT | m.15171G>T | CA913173144 | MT-CYB | c.425G>T (p.Gly142Val) | |
| MT | m.15172G>A | CA337100298 | MT-CYB | c.426G>A (p.Gly142=) | dbSNP |
| MT | m.15172G>C | CA913173145 | MT-CYB | c.426G>C (p.Gly142=) | |
| MT | m.15172G= | CA2499568864 | MT-CYB | c.426G= (p.Gly142=) | |
| MT | m.15172G>T | CA913173146 | MT-CYB | c.426G>T (p.Gly142=) | dbSNP |
| MT | m.15173G>A | CA337100300 | MT-CYB | c.427G>A (p.Ala143Thr) | dbSNP |
| MT | m.15173G>C | CA913173148 | MT-CYB | c.427G>C (p.Ala143Pro) | |
| MT | m.15173G= | CA2499568865 | MT-CYB | c.427G= (p.Ala143=) | |
| MT | m.15173G>T | CA913173147 | MT-CYB | c.427G>T (p.Ala143Ser) | |
| MT | m.15174C>A | CA913173149 | MT-CYB | c.428C>A (p.Ala143Asp) | |
| MT | m.15174C= | CA2573328630 | MT-CYB | c.428C= (p.Ala143=) | |
| MT | m.15174C>G | CA913173150 | MT-CYB | c.428C>G (p.Ala143Gly) | |
| MT | m.15174C>T | CA913173151 | MT-CYB | c.428C>T (p.Ala143Val) | dbSNP |
| MT | m.15175C>A | CA913173152 | MT-CYB | c.429C>A (p.Ala143=) | |
| MT | m.15175C= | CA2499568866 | MT-CYB | c.429C= (p.Ala143=) | |
| MT | m.15175C>G | CA913173153 | MT-CYB | c.429C>G (p.Ala143=) | |
| MT | m.15175C>T | CA913173154 | MT-CYB | c.429C>T (p.Ala143=) | dbSNP |
| MT | m.15176A= | CA2573328631 | MT-CYB | c.430A= (p.Thr144=) | |
| MT | m.15176A>C | CA913173155 | MT-CYB | c.430A>C (p.Thr144Pro) | |
| MT | m.15176A>G | CA913173156 | MT-CYB | c.430A>G (p.Thr144Ala) | |
| MT | m.15176A>T | CA913173157 | MT-CYB | c.430A>T (p.Thr144Ser) | |
| MT | m.15177C>A | CA913173160 | MT-CYB | c.431C>A (p.Thr144Lys) | |
| MT | m.15177C= | CA2573328633 | MT-CYB | c.431C= (p.Thr144=) | |
| MT | m.15177C>G | CA913173159 | MT-CYB | c.431C>G (p.Thr144Arg) | |
| MT | m.15177C>T | CA913173158 | MT-CYB | c.431C>T (p.Thr144Ile) | |
| MT | m.15178A= | CA2499568867 | MT-CYB | c.432A= (p.Thr144=) |