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.15411C>A | CA913173794 | MT-CYB | c.665C>A (p.Pro222His) | |
| MT | m.15411C= | CA2513206044 | MT-CYB | c.665C= (p.Pro222=) | |
| MT | m.15411C>G | CA913173795 | MT-CYB | c.665C>G (p.Pro222Arg) | |
| MT | m.15411C>T | CA913173796 | MT-CYB | c.665C>T (p.Pro222Leu) | |
| MT | m.15411_15412del | CA2573105336 | MT-CYB | c.665_666del (p.Pro222LeufsTer?) | |
| MT | m.15412T>A | CA337100389 | MT-CYB | c.666T>A (p.Pro222=) | dbSNP |
| MT | m.15412T>C | CA913173797 | MT-CYB | c.666T>C (p.Pro222=) | dbSNP |
| MT | m.15412T>G | CA913173798 | MT-CYB | c.666T>G (p.Pro222=) | dbSNP |
| MT | m.15412T= | CA2499568999 | MT-CYB | c.666T= (p.Pro222=) | |
| MT | m.15413T>A | CA913173799 | MT-CYB | c.667T>A (p.Tyr223Asn) | |
| MT | m.15413T>C | CA913173800 | MT-CYB | c.667T>C (p.Tyr223His) | ClinVar dbSNP |
| MT | m.15413T>G | CA913173801 | MT-CYB | c.667T>G (p.Tyr223Asp) | |
| MT | m.15413T= | CA2499569000 | MT-CYB | c.667T= (p.Tyr223=) | |
| MT | m.15414A= | CA2499569001 | MT-CYB | c.668A= (p.Tyr223=) | |
| MT | m.15414A>C | CA913173802 | MT-CYB | c.668A>C (p.Tyr223Ser) | |
| MT | m.15414A>G | CA913173803 | MT-CYB | c.668A>G (p.Tyr223Cys) | |
| MT | m.15414A>T | CA913173804 | MT-CYB | c.668A>T (p.Tyr223Phe) | ClinVar dbSNP |
| MT | m.15414_15415insGAT | CA2573105337 | MT-CYB | c.668_669insGAT (p.Tyr223Ter) | |
| MT | m.15415C>A | CA913173807 | MT-CYB | c.669C>A (p.Tyr223Ter) | |
| MT | m.15415C= | CA2573329134 | MT-CYB | c.669C= (p.Tyr223=) | |
| MT | m.15415C>G | CA913173806 | MT-CYB | c.669C>G (p.Tyr223Ter) | |
| MT | m.15415C>T | CA913173805 | MT-CYB | c.669C>T (p.Tyr223=) | |
| MT | m.15416T>A | CA913173810 | MT-CYB | c.670T>A (p.Tyr224Asn) | |
| MT | m.15416T>C | CA913173809 | MT-CYB | c.670T>C (p.Tyr224His) | |
| MT | m.15416T>G | CA913173808 | MT-CYB | c.670T>G (p.Tyr224Asp) | |
| MT | m.15416T= | CA2573329136 | MT-CYB | c.670T= (p.Tyr224=) | |
| MT | m.15417A= | CA2573329137 | MT-CYB | c.671A= (p.Tyr224=) | |
| MT | m.15417A>C | CA913173813 | MT-CYB | c.671A>C (p.Tyr224Ser) | |
| MT | m.15417A>G | CA913173812 | MT-CYB | c.671A>G (p.Tyr224Cys) | |
| MT | m.15417A>T | CA913173811 | MT-CYB | c.671A>T (p.Tyr224Phe) | |
| MT | m.15418C>A | CA913173814 | MT-CYB | c.672C>A (p.Tyr224Ter) | |
| MT | m.15418C= | CA2573329138 | MT-CYB | c.672C= (p.Tyr224=) | |
| MT | m.15418C>G | CA913173815 | MT-CYB | c.672C>G (p.Tyr224Ter) | |
| MT | m.15418C>T | CA913173816 | MT-CYB | c.672C>T (p.Tyr224=) | dbSNP |
| MT | m.15419A= | CA2573329139 | MT-CYB | c.673A= (p.Thr225=) | |
| MT | m.15419A>C | CA913173818 | MT-CYB | c.673A>C (p.Thr225Pro) | |
| MT | m.15419A>G | CA913173819 | MT-CYB | c.673A>G (p.Thr225Ala) | |
| MT | m.15419A>T | CA913173817 | MT-CYB | c.673A>T (p.Thr225Ser) | |
| MT | m.15420C>A | CA913173822 | MT-CYB | c.674C>A (p.Thr225Lys) | |
| MT | m.15420C= | CA2573329142 | MT-CYB | c.674C= (p.Thr225=) | |
| MT | m.15420C>G | CA913173821 | MT-CYB | c.674C>G (p.Thr225Arg) | |
| MT | m.15420C>T | CA913173820 | MT-CYB | c.674C>T (p.Thr225Ile) | |
| MT | m.15421A= | CA2499569002 | MT-CYB | c.675A= (p.Thr225=) | |
| MT | m.15421A>C | CA913173825 | MT-CYB | c.675A>C (p.Thr225=) | |
| MT | m.15421A>G | CA913173824 | MT-CYB | c.675A>G (p.Thr225=) | dbSNP |
| MT | m.15421A>T | CA913173823 | MT-CYB | c.675A>T (p.Thr225=) | |
| MT | m.15422A= | CA2499569003 | MT-CYB | c.676A= (p.Ile226=) |