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 |
|---|---|---|---|---|---|
| 12 | g.102865713_102871066del | CA916084429 | PAH | c.442-4403_509+883del c.427-4403_494+883del n.538-4403_605+883del n.530+6396_531-10381del | ClinVar |
| 12 | g.102865820_102866770del | CA16020806 | PAH | c.442-102_509+781del c.427-102_494+781del n.538-102_605+781del n.530+10697_531-10483del | |
| 12 | g.102866372_102868042del | CA916084427 | PAH | c.442-1377_509+226del c.427-1377_494+226del n.538-1377_605+226del n.530+9422_531-11038del | ClinVar |
| 12 | g.102866594_102866662delinsACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAAC | CA2059456968 | PAH | c.443_509+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT c.428_494+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT n.539_605+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT n.530+10800_530+10868delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT | |
| 12 | g.102866596_102866663del | CA229552 | PAH | c.443_509+1del c.428_494+1del n.539_605+1del n.530+10800_530+10867del | ClinVar dbSNP |
| 12 | g.102866615T>A | CA386299520 | PAH | c.490A>T (p.Ile164Phe) c.475A>T (p.Ile159Phe) n.586A>T n.530+10847A>T | |
| 12 | g.102866615T>C | CA229576 | PAH | c.490A>G (p.Ile164Val) c.475A>G (p.Ile159Val) n.586A>G n.530+10847A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866615T>G | CA386299523 | PAH | c.490A>C (p.Ile164Leu) c.475A>C (p.Ile159Leu) n.586A>C n.530+10847A>C | |
| 12 | g.102866615T= | CA2059456987 | PAH | c.490A= (p.Ile164=) c.475A= (p.Ile159=) n.586A= n.530+10847A= | |
| 12 | g.102866616G>A | CA481332095 | PAH | c.489C>T (p.Asp163=) c.474C>T (p.Asp158=) n.585C>T n.530+10846C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102866616G>C | CA386299526 | PAH | c.489C>G (p.Asp163Glu) c.474C>G (p.Asp158Glu) n.585C>G n.530+10846C>G | |
| 12 | g.102866616G= | CA2059456988 | PAH | c.489C= (p.Asp163=) c.474C= (p.Asp158=) n.585C= n.530+10846C= | |
| 12 | g.102866616G>T | CA386299528 | PAH | c.489C>A (p.Asp163Glu) c.474C>A (p.Asp158Glu) n.585C>A n.530+10846C>A | dbSNP gnomAD v4 COSMIC |
| 12 | g.102866617T>A | CA386299530 | PAH | c.488A>T (p.Asp163Val) c.473A>T (p.Asp158Val) n.584A>T n.530+10845A>T | |
| 12 | g.102866617T>C | CA386299532 | PAH | c.488A>G (p.Asp163Gly) c.473A>G (p.Asp158Gly) n.584A>G n.530+10845A>G | |
| 12 | g.102866617T>G | CA386299534 | PAH | c.488A>C (p.Asp163Ala) c.473A>C (p.Asp158Ala) n.584A>C n.530+10845A>C | |
| 12 | g.102866618C>A | CA386299539 | PAH | c.487G>T (p.Asp163Tyr) c.472G>T (p.Asp158Tyr) n.583G>T n.530+10844G>T | |
| 12 | g.102866618C>G | CA386299541 | PAH | c.487G>C (p.Asp163His) c.472G>C (p.Asp158His) n.583G>C n.530+10844G>C | |
| 12 | g.102866618C>T | CA386299536 | PAH | c.487G>A (p.Asp163Asn) c.472G>A (p.Asp158Asn) n.583G>A n.530+10844G>A | |
| 12 | g.102866619A>C | CA481332096 | PAH | c.486T>G (p.Ala162=) c.471T>G (p.Ala157=) n.582T>G n.530+10843T>G | |
| 12 | g.102866619A>G | CA481332097 | PAH | c.486T>C (p.Ala162=) c.471T>C (p.Ala157=) n.582T>C n.530+10843T>C | |
| 12 | g.102866619A>T | CA481332098 | PAH | c.486T>A (p.Ala162=) c.471T>A (p.Ala157=) n.582T>A n.530+10843T>A | |
| 12 | g.102866620G>A | CA386299544 | PAH | c.485C>T (p.Ala162Val) c.470C>T (p.Ala157Val) n.581C>T n.530+10842C>T | |
| 12 | g.102866620G>C | CA386299545 | PAH | c.485C>G (p.Ala162Gly) c.470C>G (p.Ala157Gly) n.581C>G n.530+10842C>G | |
| 12 | g.102866620G>T | CA386299548 | PAH | c.485C>A (p.Ala162Asp) c.470C>A (p.Ala157Asp) n.581C>A n.530+10842C>A | |
| 12 | g.102866621C>A | CA6748916 | PAH | c.484G>T (p.Ala162Ser) c.469G>T (p.Ala157Ser) n.580G>T n.530+10841G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866621C= | CA2059456989 | PAH | c.484G= (p.Ala162=) c.469G= (p.Ala157=) n.580G= n.530+10841G= | |
| 12 | g.102866621C>G | CA386299551 | PAH | c.484G>C (p.Ala162Pro) c.469G>C (p.Ala157Pro) n.580G>C n.530+10841G>C | |
| 12 | g.102866621C>T | CA386299553 | PAH | c.484G>A (p.Ala162Thr) c.469G>A (p.Ala157Thr) n.580G>A n.530+10841G>A | |
| 12 | g.102866622A>C | CA386299556 | PAH | c.483T>G (p.Phe161Leu) c.468T>G (p.Phe156Leu) n.579T>G n.530+10840T>G | |
| 12 | g.102866622A>G | CA481332099 | PAH | c.483T>C (p.Phe161=) c.468T>C (p.Phe156=) n.579T>C n.530+10840T>C | |
| 12 | g.102866622A>T | CA386299558 | PAH | c.483T>A (p.Phe161Leu) c.468T>A (p.Phe156Leu) n.579T>A n.530+10840T>A | |
| 12 | g.102866623A= | CA2059456990 | PAH | c.482T= (p.Phe161=) c.467T= (p.Phe156=) n.578T= n.530+10839T= | |
| 12 | g.102866623A>C | CA386299560 | PAH | c.482T>G (p.Phe161Cys) c.467T>G (p.Phe156Cys) n.578T>G n.530+10839T>G | |
| 12 | g.102866623A>G | CA229575 | PAH | c.482T>C (p.Phe161Ser) c.467T>C (p.Phe156Ser) n.578T>C n.530+10839T>C | ClinVar dbSNP |
| 12 | g.102866623A>T | CA386299563 | PAH | c.482T>A (p.Phe161Tyr) c.467T>A (p.Phe156Tyr) n.578T>A n.530+10839T>A | |
| 12 | g.102866624A= | CA2059456991 | PAH | c.481T= (p.Phe161=) c.466T= (p.Phe156=) n.577T= n.530+10838T= | |
| 12 | g.102866624A>C | CA386299568 | PAH | c.481T>G (p.Phe161Val) c.466T>G (p.Phe156Val) n.577T>G n.530+10838T>G | |
| 12 | g.102866624A>G | CA386299569 | PAH | c.481T>C (p.Phe161Leu) c.466T>C (p.Phe156Leu) n.577T>C n.530+10838T>C | dbSNP |
| 12 | g.102866624A>T | CA386299566 | PAH | c.481T>A (p.Phe161Ile) c.466T>A (p.Phe156Ile) n.577T>A n.530+10838T>A | |
| 12 | g.102866625C>A | CA386299572 | PAH | c.480G>T (p.Gln160His) c.465G>T (p.Gln155His) n.576G>T n.530+10837G>T | |
| 12 | g.102866625C>G | CA386299573 | PAH | c.480G>C (p.Gln160His) c.465G>C (p.Gln155His) n.576G>C n.530+10837G>C | |
| 12 | g.102866625C>T | CA481332100 | PAH | c.480G>A (p.Gln160=) c.465G>A (p.Gln155=) n.576G>A n.530+10837G>A | gnomAD v4 |
| 12 | g.102866626T>A | CA386299575 | PAH | c.479A>T (p.Gln160Leu) c.464A>T (p.Gln155Leu) n.575A>T n.530+10836A>T | |
| 12 | g.102866626T>C | CA386299577 | PAH | c.479A>G (p.Gln160Arg) c.464A>G (p.Gln155Arg) n.575A>G n.530+10836A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102866626T>G | CA229573 | PAH | c.479A>C (p.Gln160Pro) c.464A>C (p.Gln155Pro) n.575A>C n.530+10836A>C | ClinVar dbSNP |
| 12 | g.102866626T= | CA2059456992 | PAH | c.479A= (p.Gln160=) c.464A= (p.Gln155=) n.575A= n.530+10836A= | |
| 12 | g.102866627G>A | CA16020799 | PAH | c.478C>T (p.Gln160Ter) c.463C>T (p.Gln155Ter) n.574C>T n.530+10835C>T | ClinVar |
| 12 | g.102866627G>C | CA386299581 | PAH | c.478C>G (p.Gln160Glu) c.463C>G (p.Gln155Glu) n.574C>G n.530+10835C>G | |
| 12 | g.102866627G>T | CA386299583 | PAH | c.478C>A (p.Gln160Lys) c.463C>A (p.Gln155Lys) n.574C>A n.530+10835C>A |