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 |
|---|---|---|---|---|---|
| 16 | g.28845316T>A | CA395417953 | TUFM | c.412A>T (p.Lys138Ter) c.248-261A>T (n.248-261A>T) | |
| 16 | g.28845316T>C | CA395417955 | TUFM | c.412A>G (p.Lys138Glu) c.248-261A>G (n.248-261A>G) | |
| 16 | g.28845316T>G | CA395417959 | TUFM | c.412A>C (p.Lys138Gln) c.248-261A>C (n.248-261A>C) | COSMIC |
| 16 | g.28845317A>C | CA494484822 | TUFM | c.411T>G (p.Val137=) c.248-262T>G (n.248-262T>G) | |
| 16 | g.28845317A>G | CA494484823 | TUFM | c.411T>C (p.Val137=) c.248-262T>C (n.248-262T>C) | |
| 16 | g.28845317A>T | CA494484824 | TUFM | c.411T>A (p.Val137=) c.248-262T>A (n.248-262T>A) | |
| 16 | g.28845318A>C | CA395417960 | TUFM | c.410T>G (p.Val137Gly) c.248-263T>G (n.248-263T>G) | |
| 16 | g.28845318A>G | CA395417961 | TUFM | c.410T>C (p.Val137Ala) c.248-263T>C (n.248-263T>C) | |
| 16 | g.28845318A>T | CA395417962 | TUFM | c.410T>A (p.Val137Asp) c.248-263T>A (n.248-263T>A) | |
| 16 | g.28845319C>A | CA395417969 | TUFM | c.409G>T (p.Val137Phe) c.248-264G>T (n.248-264G>T) | |
| 16 | g.28845319C>G | CA395417963 | TUFM | c.409G>C (p.Val137Leu) c.248-264G>C (n.248-264G>C) | |
| 16 | g.28845319C>T | CA395417965 | TUFM | c.409G>A (p.Val137Ile) c.248-264G>A (n.248-264G>A) | ClinVar |
| 16 | g.28845320A>C | CA395417976 | TUFM | c.408T>G (p.Tyr136Ter) c.248-265T>G (n.248-265T>G) | |
| 16 | g.28845320A>G | CA494484825 | TUFM | c.408T>C (p.Tyr136=) c.248-265T>C (n.248-265T>C) | |
| 16 | g.28845320A>T | CA395417977 | TUFM | c.408T>A (p.Tyr136Ter) c.248-265T>A (n.248-265T>A) | |
| 16 | g.28845321T>A | CA395417980 | TUFM | c.407A>T (p.Tyr136Phe) c.248-266A>T (n.248-266A>T) | |
| 16 | g.28845321T>C | CA395417981 | TUFM | c.407A>G (p.Tyr136Cys) c.248-266A>G (n.248-266A>G) | |
| 16 | g.28845321T>G | CA395417983 | TUFM | c.407A>C (p.Tyr136Ser) c.248-266A>C (n.248-266A>C) | |
| 16 | g.28845322A>C | CA395417986 | TUFM | c.406T>G (p.Tyr136Asp) c.248-267T>G (n.248-267T>G) | |
| 16 | g.28845322A>G | CA395417991 | TUFM | c.406T>C (p.Tyr136His) c.248-267T>C (n.248-267T>C) | |
| 16 | g.28845322A>T | CA395417989 | TUFM | c.406T>A (p.Tyr136Asn) c.248-267T>A (n.248-267T>A) | |
| 16 | g.28845323A= | CA2215863797 | TUFM | c.405T= (p.Asp135=) c.248-268T= (n.248-268T=) | |
| 16 | g.28845323A>C | CA395417993 | TUFM | c.405T>G (p.Asp135Glu) c.248-268T>G (n.248-268T>G) | |
| 16 | g.28845323A>G | CA494484826 | TUFM | c.405T>C (p.Asp135=) c.248-268T>C (n.248-268T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845323A>T | CA395417994 | TUFM | c.405T>A (p.Asp135Glu) c.248-268T>A (n.248-268T>A) | |
| 16 | g.28845324T>A | CA395417995 | TUFM | c.404A>T (p.Asp135Val) c.248-269A>T (n.248-269A>T) | |
| 16 | g.28845324T>C | CA395417996 | TUFM | c.404A>G (p.Asp135Gly) c.248-269A>G (n.248-269A>G) | |
| 16 | g.28845324T>G | CA395417997 | TUFM | c.404A>C (p.Asp135Ala) c.248-269A>C (n.248-269A>C) | |
| 16 | g.28845325C>A | CA395417998 | TUFM | c.403G>T (p.Asp135Tyr) c.248-270G>T (n.248-270G>T) | gnomAD v4 |
| 16 | g.28845325C>G | CA395417999 | TUFM | c.403G>C (p.Asp135His) c.248-270G>C (n.248-270G>C) | |
| 16 | g.28845325C>T | CA395418001 | TUFM | c.403G>A (p.Asp135Asn) c.248-270G>A (n.248-270G>A) | |
| 16 | g.28845326T>A | CA494484827 | TUFM | c.402A>T (p.Ala134=) c.248-271A>T (n.248-271A>T) | |
| 16 | g.28845326T>C | CA494484828 | TUFM | c.402A>G (p.Ala134=) c.248-271A>G (n.248-271A>G) | gnomAD v4 |
| 16 | g.28845326T>G | CA494484829 | TUFM | c.402A>C (p.Ala134=) c.248-271A>C (n.248-271A>C) | |
| 16 | g.28845327G>A | CA395418003 | TUFM | c.401C>T (p.Ala134Val) c.248-272C>T (n.248-272C>T) | |
| 16 | g.28845327G>C | CA395418011 | TUFM | c.401C>G (p.Ala134Gly) c.248-272C>G (n.248-272C>G) | |
| 16 | g.28845327G>T | CA395418013 | TUFM | c.401C>A (p.Ala134Glu) c.248-272C>A (n.248-272C>A) | |
| 16 | g.28845328C>A | CA395418015 | TUFM | c.400G>T (p.Ala134Ser) c.248-273G>T (n.248-273G>T) | |
| 16 | g.28845328C>G | CA395418017 | TUFM | c.400G>C (p.Ala134Pro) c.248-273G>C (n.248-273G>C) | |
| 16 | g.28845328C>T | CA395418016 | TUFM | c.400G>A (p.Ala134Thr) c.248-273G>A (n.248-273G>A) | |
| 16 | g.28845329A>C | CA395418018 | TUFM | c.399T>G (p.His133Gln) c.248-274T>G (n.248-274T>G) | |
| 16 | g.28845329A>G | CA494484830 | TUFM | c.399T>C (p.His133=) c.248-274T>C (n.248-274T>C) | ClinVar dbSNP |
| 16 | g.28845329A>T | CA395418019 | TUFM | c.399T>A (p.His133Gln) c.248-274T>A (n.248-274T>A) | gnomAD v4 |
| 16 | g.28845330T>A | CA395418020 | TUFM | c.398A>T (p.His133Leu) c.248-275A>T (n.248-275A>T) | |
| 16 | g.28845330T>C | CA395418022 | TUFM | c.398A>G (p.His133Arg) c.248-275A>G (n.248-275A>G) | dbSNP gnomAD v2 |
| 16 | g.28845330T>G | CA395418028 | TUFM | c.398A>C (p.His133Pro) c.248-275A>C (n.248-275A>C) | |
| 16 | g.28845330T= | CA2215863804 | TUFM | c.398A= (p.His133=) c.248-275A= (n.248-275A=) | |
| 16 | g.28845331G>A | CA395418029 | TUFM | c.397C>T (p.His133Tyr) c.248-276C>T (n.248-276C>T) | |
| 16 | g.28845331G>C | CA395418030 | TUFM | c.397C>G (p.His133Asp) c.248-276C>G (n.248-276C>G) | |
| 16 | g.28845331G>T | CA395418031 | TUFM | c.397C>A (p.His133Asn) c.248-276C>A (n.248-276C>A) |