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.102866597G>A | CA386299449 | PAH | c.508C>T (p.His170Tyr) c.493C>T (p.His165Tyr) n.604C>T n.530+10865C>T | |
| 12 | g.102866597G>C | CA273111 | PAH | c.508C>G (p.His170Asp) c.493C>G (p.His165Asp) n.604C>G n.530+10865C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102866597G= | CA2059456971 | PAH | c.508C= (p.His170=) c.493C= (p.His165=) n.604C= n.530+10865C= | |
| 12 | g.102866597G>T | CA386299451 | PAH | c.508C>A (p.His170Asn) c.493C>A (p.His165Asn) n.604C>A n.530+10865C>A | |
| 12 | g.102866597_102866599delinsTGG | CA2695217251 | PAH | c.506_508delinsCCA (p.Arg169_His170delinsProAsn) c.491_493delinsCCA (p.Arg164_His165delinsProAsn) n.602_604delinsCCA n.530+10863_530+10865delinsCCA | |
| 12 | g.102866598G>A | CA481332082 | PAH | c.507C>T (p.Arg169=) c.492C>T (p.Arg164=) n.603C>T n.530+10864C>T | |
| 12 | g.102866598G>C | CA481332083 | PAH | c.507C>G (p.Arg169=) c.492C>G (p.Arg164=) n.603C>G n.530+10864C>G | |
| 12 | g.102866598G>T | CA481332084 | PAH | c.507C>A (p.Arg169=) c.492C>A (p.Arg164=) n.603C>A n.530+10864C>A | |
| 12 | g.102866599del | CA2695217252 | PAH | c.506del (p.Arg169ProfsTer26) c.491del (p.Arg164ProfsTer26) n.602del n.530+10863del | |
| 12 | g.102866599C>A | CA386299454 | PAH | c.506G>T (p.Arg169Leu) c.491G>T (p.Arg164Leu) n.602G>T n.530+10863G>T | ClinVar gnomAD v4 |
| 12 | g.102866599C= | CA2059456972 | PAH | c.506G= (p.Arg169=) c.491G= (p.Arg164=) n.602G= n.530+10863G= | |
| 12 | g.102866599C>G | CA386299458 | PAH | c.506G>C (p.Arg169Pro) c.491G>C (p.Arg164Pro) n.602G>C n.530+10863G>C | ClinVar dbSNP |
| 12 | g.102866599C>T | CA286505 | PAH | c.506G>A (p.Arg169His) c.491G>A (p.Arg164His) n.602G>A n.530+10863G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866600G>A | CA267693 | PAH | c.505C>T (p.Arg169Cys) c.490C>T (p.Arg164Cys) n.601C>T n.530+10862C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102866600G>C | CA16020804 | PAH | c.505C>G (p.Arg169Gly) c.490C>G (p.Arg164Gly) n.601C>G n.530+10862C>G | ClinVar dbSNP |
| 12 | g.102866600G= | CA2059456973 | PAH | c.505C= (p.Arg169=) c.490C= (p.Arg164=) n.601C= n.530+10862C= | |
| 12 | g.102866600G>T | CA16020803 | PAH | c.505C>A (p.Arg169Ser) c.490C>A (p.Arg164Ser) n.601C>A n.530+10862C>A | ClinVar dbSNP |
| 12 | g.102866601_102866602insGAGGG | CA386299459 | PAH | c.505_506insCTCCC (p.Arg169ProfsTer28) c.490_491insCTCCC (p.Arg164ProfsTer28) n.601_602insCTCCC n.530+10862_530+10863insCTCCC | dbSNP |
| 12 | g.102866601_102866602insGGGGGG | CA242485366 | PAH | c.505_506insCCCCCC (p.Tyr168_Arg169insProPro) c.490_491insCCCCCC (p.Tyr163_Arg164insProPro) n.601_602insCCCCCC n.530+10862_530+10863insCCCCCC | dbSNP |
| 12 | g.102866601G>A | CA481332086 | PAH | c.504C>T (p.Tyr168=) c.489C>T (p.Tyr163=) n.600C>T n.530+10861C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866601G>C | CA386299465 | PAH | c.504C>G (p.Tyr168Ter) c.489C>G (p.Tyr163Ter) n.600C>G n.530+10861C>G | |
| 12 | g.102866601G= | CA2059456974 | PAH | c.504C= (p.Tyr168=) c.489C= (p.Tyr163=) n.600C= n.530+10861C= | |
| 12 | g.102866601G>T | CA267656 | PAH | c.504C>A (p.Tyr168Ter) c.489C>A (p.Tyr163Ter) n.600C>A n.530+10861C>A | ClinVar dbSNP |
| 12 | g.102866601_102866602delinsGT | CA2059456975 | PAH | c.503_504delinsAC (p.Tyr168=) c.488_489delinsAC (p.Tyr163=) n.599_600delinsAC n.530+10860_530+10861delinsAC | |
| 12 | g.102866602del | CA229588 | PAH | c.503del (p.Tyr168SerfsTer27) c.488del (p.Tyr163SerfsTer27) n.599del n.530+10860del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102866602T>A | CA386299468 | PAH | c.503A>T (p.Tyr168Phe) c.488A>T (p.Tyr163Phe) n.599A>T n.530+10860A>T | |
| 12 | g.102866602T>C | CA386299470 | PAH | c.503A>G (p.Tyr168Cys) c.488A>G (p.Tyr163Cys) n.599A>G n.530+10860A>G | |
| 12 | g.102866602T>G | CA386299472 | PAH | c.503A>C (p.Tyr168Ser) c.488A>C (p.Tyr163Ser) n.599A>C n.530+10860A>C | dbSNP gnomAD v4 |
| 12 | g.102866602T= | CA2059456976 | PAH | c.503A= (p.Tyr168=) c.488A= (p.Tyr163=) n.599A= n.530+10860A= | |
| 12 | g.102866602_102866603del | CA645584085 | PAH | c.502_503del (p.Tyr168ProfsTer?) c.487_488del (p.Tyr163ProfsTer?) n.598_599del n.530+10859_530+10860del | COSMIC |
| 12 | g.102866603A= | CA2059456977 | PAH | c.502T= (p.Tyr168=) c.487T= (p.Tyr163=) n.598T= n.530+10859T= | |
| 12 | g.102866603A>C | CA386299475 | PAH | c.502T>G (p.Tyr168Asp) c.487T>G (p.Tyr163Asp) n.598T>G n.530+10859T>G | |
| 12 | g.102866603A>G | CA229586 | PAH | c.502T>C (p.Tyr168His) c.487T>C (p.Tyr163His) n.598T>C n.530+10859T>C | ClinVar dbSNP |
| 12 | g.102866603A>T | CA386299477 | PAH | c.502T>A (p.Tyr168Asn) c.487T>A (p.Tyr163Asn) n.598T>A n.530+10859T>A | dbSNP |
| 12 | g.102866604G>A | CA481332087 | PAH | c.501C>T (p.Asn167=) c.486C>T (p.Asn162=) n.597C>T n.530+10858C>T | |
| 12 | g.102866604G>C | CA242485390 | PAH | c.501C>G (p.Asn167Lys) c.486C>G (p.Asn162Lys) n.597C>G n.530+10858C>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102866604G= | CA2059456978 | PAH | c.501C= (p.Asn167=) c.486C= (p.Asn162=) n.597C= n.530+10858C= | |
| 12 | g.102866604G>T | CA386299479 | PAH | c.501C>A (p.Asn167Lys) c.486C>A (p.Asn162Lys) n.597C>A n.530+10858C>A | |
| 12 | g.102866605T>A | CA220584 | PAH | c.500A>T (p.Asn167Ile) c.485A>T (p.Asn162Ile) n.596A>T n.530+10857A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866605T>C | CA229585 | PAH | c.500A>G (p.Asn167Ser) c.485A>G (p.Asn162Ser) n.596A>G n.530+10857A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866605T>G | CA386299484 | PAH | c.500A>C (p.Asn167Thr) c.485A>C (p.Asn162Thr) n.596A>C n.530+10857A>C | dbSNP |
| 12 | g.102866605T= | CA2059456979 | PAH | c.500A= (p.Asn167=) c.485A= (p.Asn162=) n.596A= n.530+10857A= | |
| 12 | g.102866606T>A | CA16020802 | PAH | c.499A>T (p.Asn167Tyr) c.484A>T (p.Asn162Tyr) n.595A>T n.530+10856A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866606T>C | CA386299491 | PAH | c.499A>G (p.Asn167Asp) c.484A>G (p.Asn162Asp) n.595A>G n.530+10856A>G | |
| 12 | g.102866606T>G | CA386299489 | PAH | c.499A>C (p.Asn167His) c.484A>C (p.Asn162His) n.595A>C n.530+10856A>C | |
| 12 | g.102866606T= | CA2059456980 | PAH | c.499A= (p.Asn167=) c.484A= (p.Asn162=) n.595A= n.530+10856A= | |
| 12 | g.102866607G>A | CA481332089 | PAH | c.498C>T (p.Tyr166=) c.483C>T (p.Tyr161=) n.594C>T n.530+10855C>T | |
| 12 | g.102866607G>C | CA16020801 | PAH | c.498C>G (p.Tyr166Ter) c.483C>G (p.Tyr161Ter) n.594C>G n.530+10855C>G | ClinVar dbSNP |
| 12 | g.102866607G= | CA2059456981 | PAH | c.498C= (p.Tyr166=) c.483C= (p.Tyr161=) n.594C= n.530+10855C= | |
| 12 | g.102866607G>T | CA229583 | PAH | c.498C>A (p.Tyr166Ter) c.483C>A (p.Tyr161Ter) n.594C>A n.530+10855C>A | ClinVar dbSNP |
| 12 | g.102866608T>A | CA386299494 | PAH | c.497A>T (p.Tyr166Phe) c.482A>T (p.Tyr161Phe) n.593A>T n.530+10854A>T | |
| 12 | g.102866608T>C | CA6748915 | PAH | c.497A>G (p.Tyr166Cys) c.482A>G (p.Tyr161Cys) n.593A>G n.530+10854A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102866608T>G | CA386299497 | PAH | c.497A>C (p.Tyr166Ser) c.482A>C (p.Tyr161Ser) n.593A>C n.530+10854A>C | |
| 12 | g.102866608T= | CA2059456982 | PAH | c.497A= (p.Tyr166=) c.482A= (p.Tyr161=) n.593A= n.530+10854A= | |
| 12 | g.102866609A>C | CA386299499 | PAH | c.496T>G (p.Tyr166Asp) c.481T>G (p.Tyr161Asp) n.592T>G n.530+10853T>G | |
| 12 | g.102866609A>G | CA386299501 | PAH | c.496T>C (p.Tyr166His) c.481T>C (p.Tyr161His) n.592T>C n.530+10853T>C | |
| 12 | g.102866609A>T | CA386299503 | PAH | c.496T>A (p.Tyr166Asn) c.481T>A (p.Tyr161Asn) n.592T>A n.530+10853T>A | |
| 12 | g.102866610_102866613del | CA2580085681 | PAH | c.493_496del (p.Ala165ThrfsTer29) c.478_481del (p.Ala160ThrfsTer29) n.589_592del n.530+10850_530+10853del | ClinVar |
| 12 | g.102866610G>A | CA481332090 | PAH | c.495C>T (p.Ala165=) c.480C>T (p.Ala160=) n.591C>T n.530+10852C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866610G>C | CA481332091 | PAH | c.495C>G (p.Ala165=) c.480C>G (p.Ala160=) n.591C>G n.530+10852C>G | |
| 12 | g.102866610G= | CA2059456983 | PAH | c.495C= (p.Ala165=) c.480C= (p.Ala160=) n.591C= n.530+10852C= | |
| 12 | g.102866610G>T | CA481332092 | PAH | c.495C>A (p.Ala165=) c.480C>A (p.Ala160=) n.591C>A n.530+10852C>A | |
| 12 | g.102866611G>A | CA386299506 | PAH | c.494C>T (p.Ala165Val) c.479C>T (p.Ala160Val) n.590C>T n.530+10851C>T | gnomAD v4 |
| 12 | g.102866611G>C | CA386299508 | PAH | c.494C>G (p.Ala165Gly) c.479C>G (p.Ala160Gly) n.590C>G n.530+10851C>G | |
| 12 | g.102866611G= | CA2059456984 | PAH | c.494C= (p.Ala165=) c.479C= (p.Ala160=) n.590C= n.530+10851C= | |
| 12 | g.102866611G>T | CA16020800 | PAH | c.494C>A (p.Ala165Asp) c.479C>A (p.Ala160Asp) n.590C>A n.530+10851C>A | ClinVar dbSNP |
| 12 | g.102866611_102866612insA | CA2695217253 | PAH | c.493_494insT (p.Ala165ValfsTer?) c.478_479insT (p.Ala160ValfsTer?) n.589_590insT n.530+10850_530+10851insT | |
| 12 | g.102866612C>A | CA386299512 | PAH | c.493G>T (p.Ala165Ser) c.478G>T (p.Ala160Ser) n.589G>T n.530+10850G>T | |
| 12 | g.102866612C= | CA2059456985 | PAH | c.493G= (p.Ala165=) c.478G= (p.Ala160=) n.589G= n.530+10850G= | |
| 12 | g.102866612C>G | CA229581 | PAH | c.493G>C (p.Ala165Pro) c.478G>C (p.Ala160Pro) n.589G>C n.530+10850G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102866612C>T | CA229579 | PAH | c.493G>A (p.Ala165Thr) c.478G>A (p.Ala160Thr) n.589G>A n.530+10850G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866613A>C | CA386299515 | PAH | c.492T>G (p.Ile164Met) c.477T>G (p.Ile159Met) n.588T>G n.530+10849T>G | |
| 12 | g.102866613A>G | CA481332093 | PAH | c.492T>C (p.Ile164=) c.477T>C (p.Ile159=) n.588T>C n.530+10849T>C | |
| 12 | g.102866613A>T | CA481332094 | PAH | c.492T>A (p.Ile164=) c.477T>A (p.Ile159=) n.588T>A n.530+10849T>A | |
| 12 | g.102866614A= | CA2059456986 | PAH | c.491T= (p.Ile164=) c.476T= (p.Ile159=) n.587T= n.530+10848T= | |
| 12 | g.102866614A>C | CA386299516 | PAH | c.491T>G (p.Ile164Ser) c.476T>G (p.Ile159Ser) n.587T>G n.530+10848T>G | |
| 12 | g.102866614A>G | CA229578 | PAH | c.491T>C (p.Ile164Thr) c.476T>C (p.Ile159Thr) n.587T>C n.530+10848T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866614A>T | CA386299517 | PAH | c.491T>A (p.Ile164Asn) c.476T>A (p.Ile159Asn) n.587T>A n.530+10848T>A | |
| 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 | |
| 12 | g.102866628C>A | CA386299586 | PAH | c.477G>T (p.Lys159Asn) c.462G>T (p.Lys154Asn) n.573G>T n.530+10834G>T | |
| 12 | g.102866628C>G | CA386299588 | PAH | c.477G>C (p.Lys159Asn) c.462G>C (p.Lys154Asn) n.573G>C n.530+10834G>C | gnomAD v4 |
| 12 | g.102866628C>T | CA481332101 | PAH | c.477G>A (p.Lys159=) c.462G>A (p.Lys154=) n.573G>A n.530+10834G>A | ClinVar gnomAD v4 |
| 12 | g.102866629T>A | CA386299591 | PAH | c.476A>T (p.Lys159Met) c.461A>T (p.Lys154Met) n.572A>T n.530+10833A>T | |
| 12 | g.102866629T>C | CA386299592 | PAH | c.476A>G (p.Lys159Arg) c.461A>G (p.Lys154Arg) n.572A>G n.530+10833A>G | |
| 12 | g.102866629T>G | CA386299594 | PAH | c.476A>C (p.Lys159Thr) c.461A>C (p.Lys154Thr) n.572A>C n.530+10833A>C | |
| 12 | g.102866630T>A | CA386299600 | PAH | c.475A>T (p.Lys159Ter) c.460A>T (p.Lys154Ter) n.571A>T n.530+10832A>T | |
| 12 | g.102866630T>C | CA386299598 | PAH | c.475A>G (p.Lys159Glu) c.460A>G (p.Lys154Glu) n.571A>G n.530+10832A>G | |
| 12 | g.102866630T>G | CA386299596 | PAH | c.475A>C (p.Lys159Gln) c.460A>C (p.Lys154Gln) n.571A>C n.530+10832A>C | |
| 12 | g.102866631C>A | CA481332104 | PAH | c.474G>T (p.Arg158=) c.459G>T (p.Arg153=) n.570G>T n.530+10831G>T | |
| 12 | g.102866631C>G | CA481332103 | PAH | c.474G>C (p.Arg158=) c.459G>C (p.Arg153=) n.570G>C n.530+10831G>C | |
| 12 | g.102866631C>T | CA481332102 | PAH | c.474G>A (p.Arg158=) c.459G>A (p.Arg153=) n.570G>A n.530+10831G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.102866632C>A | CA386299601 | PAH | c.473G>T (p.Arg158Leu) c.458G>T (p.Arg153Leu) n.569G>T n.530+10830G>T | |
| 12 | g.102866632C= | CA2059456993 | PAH | c.473G= (p.Arg158=) c.458G= (p.Arg153=) n.569G= n.530+10830G= | |
| 12 | g.102866632C>G | CA229571 | PAH | c.473G>C (p.Arg158Pro) c.458G>C (p.Arg153Pro) n.569G>C n.530+10830G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102866632C>T | CA251530 | PAH | c.473G>A (p.Arg158Gln) c.458G>A (p.Arg153Gln) n.569G>A n.530+10830G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866633G>A | CA229570 | PAH | c.472C>T (p.Arg158Trp) c.457C>T (p.Arg153Trp) n.568C>T n.530+10829C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866633G>C | CA386299607 | PAH | c.472C>G (p.Arg158Gly) c.457C>G (p.Arg153Gly) n.568C>G n.530+10829C>G | ClinVar |
| 12 | g.102866633G= | CA2059456994 | PAH | c.472C= (p.Arg158=) c.457C= (p.Arg153=) n.568C= n.530+10829C= | |
| 12 | g.102866633G>T | CA481332105 | PAH | c.472C>A (p.Arg158=) c.457C>A (p.Arg153=) n.568C>A n.530+10829C>A | |
| 12 | g.102866634T>A | CA386299609 | PAH | c.471A>T (p.Arg157Ser) c.456A>T (p.Arg152Ser) n.567A>T n.530+10828A>T | |
| 12 | g.102866634T>C | CA242485488 | PAH | c.471A>G (p.Arg157=) c.456A>G (p.Arg152=) n.567A>G n.530+10828A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102866634T>G | CA229569 | PAH | c.471A>C (p.Arg157Ser) c.456A>C (p.Arg152Ser) n.567A>C n.530+10828A>C | ClinVar dbSNP |
| 12 | g.102866634T= | CA2059456995 | PAH | c.471A= (p.Arg157=) c.456A= (p.Arg152=) n.567A= n.530+10828A= | |
| 12 | g.102866634_102866635delinsGT | CA16020798 | PAH | c.470_471delinsAC (p.Arg157Asn) c.455_456delinsAC (p.Arg152Asn) n.566_567delinsAC n.530+10827_530+10828delinsAC | ClinVar dbSNP |
| 12 | g.102866634_102866635delinsTC | CA2059456996 | PAH | c.470_471delinsGA (p.Arg157=) c.455_456delinsGA (p.Arg152=) n.566_567delinsGA n.530+10827_530+10828delinsGA | |
| 12 | g.102866634_102866636delinsGTG | CA2695217254 | PAH | c.469_471delinsCAC (p.Arg157His) c.454_456delinsCAC (p.Arg152His) n.565_567delinsCAC n.530+10826_530+10828delinsCAC | |
| 12 | g.102866635C>A | CA229567 | PAH | c.470G>T (p.Arg157Ile) c.455G>T (p.Arg152Ile) n.566G>T n.530+10827G>T | ClinVar dbSNP |
| 12 | g.102866635C= | CA2059456997 | PAH | c.470G= (p.Arg157=) c.455G= (p.Arg152=) n.566G= n.530+10827G= | |
| 12 | g.102866635C>G | CA16020797 | PAH | c.470G>C (p.Arg157Thr) c.455G>C (p.Arg152Thr) n.566G>C n.530+10827G>C | ClinVar dbSNP |
| 12 | g.102866635C>T | CA229565 | PAH | c.470G>A (p.Arg157Lys) c.455G>A (p.Arg152Lys) n.566G>A n.530+10827G>A | ClinVar dbSNP |
| 12 | g.102866636T>A | CA386299616 | PAH | c.469A>T (p.Arg157Ter) c.454A>T (p.Arg152Ter) n.565A>T n.530+10826A>T | |
| 12 | g.102866636T>C | CA386299619 | PAH | c.469A>G (p.Arg157Gly) c.454A>G (p.Arg152Gly) n.565A>G n.530+10826A>G | |
| 12 | g.102866636T>G | CA481332106 | PAH | c.469A>C (p.Arg157=) c.454A>C (p.Arg152=) n.565A>C n.530+10826A>C | |
| 12 | g.102866636_102866674dup | CA2797243704 | PAH | c.442-11_469dup c.427-11_454dup n.538-11_565dup n.530+10788_530+10826dup | |
| 12 | g.102866637T>A | CA481332107 | PAH | c.468A>T (p.Ala156=) c.453A>T (p.Ala151=) n.564A>T n.530+10825A>T | |
| 12 | g.102866637T>C | CA481332108 | PAH | c.468A>G (p.Ala156=) c.453A>G (p.Ala151=) n.564A>G n.530+10825A>G | |
| 12 | g.102866637T>G | CA481332109 | PAH | c.468A>C (p.Ala156=) c.453A>C (p.Ala151=) n.564A>C n.530+10825A>C | |
| 12 | g.102866638del | CA2580085685 | PAH | c.467del (p.Ala156GlufsTer?) c.452del (p.Ala151GlufsTer?) n.563del n.530+10824del | ClinVar |
| 12 | g.102866638G>A | CA242485507 | PAH | c.467C>T (p.Ala156Val) c.452C>T (p.Ala151Val) n.563C>T n.530+10824C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102866638G>C | CA386299622 | PAH | c.467C>G (p.Ala156Gly) c.452C>G (p.Ala151Gly) n.563C>G n.530+10824C>G | ClinVar dbSNP |
| 12 | g.102866638G= | CA2059456998 | PAH | c.467C= (p.Ala156=) c.452C= (p.Ala151=) n.563C= n.530+10824C= | |
| 12 | g.102866638G>T | CA386299625 | PAH | c.467C>A (p.Ala156Glu) c.452C>A (p.Ala151Glu) n.563C>A n.530+10824C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866639C>A | CA386299626 | PAH | c.466G>T (p.Ala156Ser) c.451G>T (p.Ala151Ser) n.562G>T n.530+10823G>T | |
| 12 | g.102866639C= | CA2059456999 | PAH | c.466G= (p.Ala156=) c.451G= (p.Ala151=) n.562G= n.530+10823G= | |
| 12 | g.102866639C>G | CA229562 | PAH | c.466G>C (p.Ala156Pro) c.451G>C (p.Ala151Pro) n.562G>C n.530+10823G>C | ClinVar dbSNP |
| 12 | g.102866639C>T | CA386299627 | PAH | c.466G>A (p.Ala156Thr) c.451G>A (p.Ala151Thr) n.562G>A n.530+10823G>A | |
| 12 | g.102866640A= | CA2059457000 | PAH | c.465T= (p.Arg155=) c.450T= (p.Arg150=) n.561T= n.530+10822T= | |
| 12 | g.102866640A>C | CA481332110 | PAH | c.465T>G (p.Arg155=) c.450T>G (p.Arg150=) n.561T>G n.530+10822T>G | |
| 12 | g.102866640A>G | CA481332111 | PAH | c.465T>C (p.Arg155=) c.450T>C (p.Arg150=) n.561T>C n.530+10822T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102866640A>T | CA481332112 | PAH | c.465T>A (p.Arg155=) c.450T>A (p.Arg150=) n.561T>A n.530+10822T>A | |
| 12 | g.102866641C>A | CA386299629 | PAH | c.464G>T (p.Arg155Leu) c.449G>T (p.Arg150Leu) n.560G>T n.530+10821G>T | |
| 12 | g.102866641C= | CA2059457002 | PAH | c.464G= (p.Arg155=) c.449G= (p.Arg150=) n.560G= n.530+10821G= | |
| 12 | g.102866641C>G | CA229561 | PAH | c.464G>C (p.Arg155Pro) c.449G>C (p.Arg150Pro) n.560G>C n.530+10821G>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866641C>T | CA229559 | PAH | c.464G>A (p.Arg155His) c.449G>A (p.Arg150His) n.560G>A n.530+10821G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102866641_102866642delinsCG | CA2059457001 | PAH | c.463_464delinsCG (p.Arg155=) c.448_449delinsCG (p.Arg150=) n.559_560delinsCG n.530+10820_530+10821delinsCG | |
| 12 | g.102866642G>A | CA6748917 | PAH | c.463C>T (p.Arg155Cys) c.448C>T (p.Arg150Cys) n.559C>T n.530+10820C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866642G>C | CA386299630 | PAH | c.463C>G (p.Arg155Gly) c.448C>G (p.Arg150Gly) n.559C>G n.530+10820C>G | |
| 12 | g.102866642G= | CA2059457003 | PAH | c.463C= (p.Arg155=) c.448C= (p.Arg150=) n.559C= n.530+10820C= | |
| 12 | g.102866642G>T | CA386299633 | PAH | c.463C>A (p.Arg155Ser) c.448C>A (p.Arg150Ser) n.559C>A n.530+10820C>A | |
| 12 | g.102866643del | CA1139532470 | PAH | c.463del (p.Arg155ValfsTer?) c.448del (p.Arg150ValfsTer?) n.559del n.530+10820del | ClinVar dbSNP |
| 12 | g.102866644_102866651dup | CA16020796 | PAH | c.456_463dup (p.Arg155LeufsTer?) c.441_448dup (p.Arg150LeufsTer?) n.552_559dup n.530+10813_530+10820dup | ClinVar dbSNP |
| 12 | g.102866643G>A | CA481332113 | PAH | c.462C>T (p.Tyr154=) c.447C>T (p.Tyr149=) n.558C>T n.530+10819C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102866643G>C | CA386299635 | PAH | c.462C>G (p.Tyr154Ter) c.447C>G (p.Tyr149Ter) n.558C>G n.530+10819C>G | |
| 12 | g.102866643G= | CA2059457004 | PAH | c.462C= (p.Tyr154=) c.447C= (p.Tyr149=) n.558C= n.530+10819C= | |
| 12 | g.102866643G>T | CA386299637 | PAH | c.462C>A (p.Tyr154Ter) c.447C>A (p.Tyr149Ter) n.558C>A n.530+10819C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866644T>A | CA16020795 | PAH | c.461A>T (p.Tyr154Phe) c.446A>T (p.Tyr149Phe) n.557A>T n.530+10818A>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866644T>C | CA16020794 | PAH | c.461A>G (p.Tyr154Cys) c.446A>G (p.Tyr149Cys) n.557A>G n.530+10818A>G | ClinVar dbSNP |
| 12 | g.102866644T>G | CA386299641 | PAH | c.461A>C (p.Tyr154Ser) c.446A>C (p.Tyr149Ser) n.557A>C n.530+10818A>C | |
| 12 | g.102866644T= | CA2059457005 | PAH | c.461A= (p.Tyr154=) c.446A= (p.Tyr149=) n.557A= n.530+10818A= | |
| 12 | g.102866645A= | CA2059457006 | PAH | c.460T= (p.Tyr154=) c.445T= (p.Tyr149=) n.556T= n.530+10817T= | |
| 12 | g.102866645A>C | CA386299644 | PAH | c.460T>G (p.Tyr154Asp) c.445T>G (p.Tyr149Asp) n.556T>G n.530+10817T>G | |
| 12 | g.102866645A>G | CA229557 | PAH | c.460T>C (p.Tyr154His) c.445T>C (p.Tyr149His) n.556T>C n.530+10817T>C | ClinVar dbSNP |
| 12 | g.102866645A>T | CA229556 | PAH | c.460T>A (p.Tyr154Asn) c.445T>A (p.Tyr149Asn) n.556T>A n.530+10817T>A | ClinVar dbSNP |
| 12 | g.102866646C>A | CA481332114 | PAH | c.459G>T (p.Val153=) c.444G>T (p.Val148=) n.555G>T n.530+10816G>T | |
| 12 | g.102866646C>G | CA481332115 | PAH | c.459G>C (p.Val153=) c.444G>C (p.Val148=) n.555G>C n.530+10816G>C | |
| 12 | g.102866646C>T | CA481332116 | PAH | c.459G>A (p.Val153=) c.444G>A (p.Val148=) n.555G>A n.530+10816G>A | |
| 12 | g.102866647A>C | CA386299648 | PAH | c.458T>G (p.Val153Gly) c.443T>G (p.Val148Gly) n.554T>G n.530+10815T>G | |
| 12 | g.102866647A>G | CA386299650 | PAH | c.458T>C (p.Val153Ala) c.443T>C (p.Val148Ala) n.554T>C n.530+10815T>C | ClinVar |
| 12 | g.102866647A>T | CA386299652 | PAH | c.458T>A (p.Val153Glu) c.443T>A (p.Val148Glu) n.554T>A n.530+10815T>A | |
| 12 | g.102866648C>A | CA386299655 | PAH | c.457G>T (p.Val153Leu) c.442G>T (p.Val148Leu) n.553G>T n.530+10814G>T | |
| 12 | g.102866648C>G | CA386299657 | PAH | c.457G>C (p.Val153Leu) c.442G>C (p.Val148Leu) n.553G>C n.530+10814G>C | |
| 12 | g.102866648C>T | CA386299659 | PAH | c.457G>A (p.Val153Met) c.442G>A (p.Val148Met) n.553G>A n.530+10814G>A | gnomAD v4 |
| 12 | g.102866649A= | CA2059457007 | PAH | c.456T= (p.Pro152=) c.441T= (p.Pro147=) n.552T= n.530+10813T= | |
| 12 | g.102866649A>C | CA481332117 | PAH | c.456T>G (p.Pro152=) c.441T>G (p.Pro147=) n.552T>G n.530+10813T>G | |
| 12 | g.102866649A>G | CA242485549 | PAH | c.456T>C (p.Pro152=) c.441T>C (p.Pro147=) n.552T>C n.530+10813T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866649A>T | CA481332119 | PAH | c.456T>A (p.Pro152=) c.441T>A (p.Pro147=) n.552T>A n.530+10813T>A | |
| 12 | g.102866650G>A | CA386299661 | PAH | c.455C>T (p.Pro152Leu) c.440C>T (p.Pro147Leu) n.551C>T n.530+10812C>T | |
| 12 | g.102866650G>C | CA386299663 | PAH | c.455C>G (p.Pro152Arg) c.440C>G (p.Pro147Arg) n.551C>G n.530+10812C>G | |
| 12 | g.102866650G>T | CA386299665 | PAH | c.455C>A (p.Pro152His) c.440C>A (p.Pro147His) n.551C>A n.530+10812C>A | |
| 12 | g.102866651G>A | CA386299667 | PAH | c.454C>T (p.Pro152Ser) c.439C>T (p.Pro147Ser) n.550C>T n.530+10811C>T | gnomAD v4 COSMIC |
| 12 | g.102866651G>C | CA386299670 | PAH | c.454C>G (p.Pro152Ala) c.439C>G (p.Pro147Ala) n.550C>G n.530+10811C>G | |
| 12 | g.102866651G>T | CA386299672 | PAH | c.454C>A (p.Pro152Thr) c.439C>A (p.Pro147Thr) n.550C>A n.530+10811C>A | |
| 12 | g.102866652del | CA16020792 | PAH | c.453del (p.Pro152LeufsTer?) c.438del (p.Pro147LeufsTer?) n.549del n.530+10810del | |
| 12 | g.102866652A>C | CA386299674 | PAH | c.453T>G (p.Asp151Glu) c.438T>G (p.Asp146Glu) n.549T>G n.530+10810T>G | |
| 12 | g.102866652A>G | CA481332123 | PAH | c.453T>C (p.Asp151=) c.438T>C (p.Asp146=) n.549T>C n.530+10810T>C | |
| 12 | g.102866652A>T | CA16020793 | PAH | c.453T>A (p.Asp151Glu) c.438T>A (p.Asp146Glu) n.549T>A n.530+10810T>A | |
| 12 | g.102866653T>A | CA386299676 | PAH | c.452A>T (p.Asp151Val) c.437A>T (p.Asp146Val) n.548A>T n.530+10809A>T | |
| 12 | g.102866653T>C | CA229554 | PAH | c.452A>G (p.Asp151Gly) c.437A>G (p.Asp146Gly) n.548A>G n.530+10809A>G | ClinVar dbSNP |
| 12 | g.102866653T>G | CA386299679 | PAH | c.452A>C (p.Asp151Ala) c.437A>C (p.Asp146Ala) n.548A>C n.530+10809A>C | |
| 12 | g.102866653T= | CA2059457008 | PAH | c.452A= (p.Asp151=) c.437A= (p.Asp146=) n.548A= n.530+10809A= | |
| 12 | g.102866654C>A | CA386299681 | PAH | c.451G>T (p.Asp151Tyr) c.436G>T (p.Asp146Tyr) n.547G>T n.530+10808G>T | COSMIC |
| 12 | g.102866654C= | CA2059457009 | PAH | c.451G= (p.Asp151=) c.436G= (p.Asp146=) n.547G= n.530+10808G= | |
| 12 | g.102866654C>G | CA229553 | PAH | c.451G>C (p.Asp151His) c.436G>C (p.Asp146His) n.547G>C n.530+10808G>C | ClinVar dbSNP |
| 12 | g.102866654C>T | CA386299685 | PAH | c.451G>A (p.Asp151Asn) c.436G>A (p.Asp146Asn) n.547G>A n.530+10808G>A | |
| 12 | g.102866655T>A | CA386299687 | PAH | c.450A>T (p.Lys150Asn) c.435A>T (p.Lys145Asn) n.546A>T n.530+10807A>T | |
| 12 | g.102866655T>C | CA6748918 | PAH | c.450A>G (p.Lys150=) c.435A>G (p.Lys145=) n.546A>G n.530+10807A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866655T>G | CA386299689 | PAH | c.450A>C (p.Lys150Asn) c.435A>C (p.Lys145Asn) n.546A>C n.530+10807A>C | |
| 12 | g.102866655T= | CA2059457010 | PAH | c.450A= (p.Lys150=) c.435A= (p.Lys145=) n.546A= n.530+10807A= | |
| 12 | g.102866657dup | CA2580085688 | PAH | c.450dup (p.Asp151ArgfsTer13) c.435dup (p.Asp146ArgfsTer13) n.546dup n.530+10807dup | ClinVar gnomAD v4 |
| 12 | g.102866656T>A | CA386299691 | PAH | c.449A>T (p.Lys150Ile) c.434A>T (p.Lys145Ile) n.545A>T n.530+10806A>T | |
| 12 | g.102866656T>C | CA386299694 | PAH | c.449A>G (p.Lys150Arg) c.434A>G (p.Lys145Arg) n.545A>G n.530+10806A>G | |
| 12 | g.102866656T>G | CA386299696 | PAH | c.449A>C (p.Lys150Thr) c.434A>C (p.Lys145Thr) n.545A>C n.530+10806A>C | |
| 12 | g.102866657T>A | CA386299699 | PAH | c.448A>T (p.Lys150Ter) c.433A>T (p.Lys145Ter) n.544A>T n.530+10805A>T | |
| 12 | g.102866657T>C | CA386299701 | PAH | c.448A>G (p.Lys150Glu) c.433A>G (p.Lys145Glu) n.544A>G n.530+10805A>G | dbSNP |
| 12 | g.102866657T>G | CA386299697 | PAH | c.448A>C (p.Lys150Gln) c.433A>C (p.Lys145Gln) n.544A>C n.530+10805A>C | |
| 12 | g.102866657T= | CA2059457011 | PAH | c.448A= (p.Lys150=) c.433A= (p.Lys145=) n.544A= n.530+10805A= | |
| 12 | g.102866658A= | CA2059457012 | PAH | c.447T= (p.Phe149=) c.432T= (p.Phe144=) n.543T= n.530+10804T= | |
| 12 | g.102866658A>C | CA386299705 | PAH | c.447T>G (p.Phe149Leu) c.432T>G (p.Phe144Leu) n.543T>G n.530+10804T>G | |
| 12 | g.102866658A>G | CA6748919 | PAH | c.447T>C (p.Phe149=) c.432T>C (p.Phe144=) n.543T>C n.530+10804T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102866658A>T | CA386299707 | PAH | c.447T>A (p.Phe149Leu) c.432T>A (p.Phe144Leu) n.543T>A n.530+10804T>A | |
| 12 | g.102866658_102866659delinsTT | CA645372268 | PAH | c.446_447delinsAA (p.Phe149Ter) c.431_432delinsAA (p.Phe144Ter) n.542_543delinsAA n.530+10803_530+10804delinsAA | |
| 12 | g.102866659A>C | CA386299709 | PAH | c.446T>G (p.Phe149Cys) c.431T>G (p.Phe144Cys) n.542T>G n.530+10803T>G | |
| 12 | g.102866659A>G | CA386299710 | PAH | c.446T>C (p.Phe149Ser) c.431T>C (p.Phe144Ser) n.542T>C n.530+10803T>C | gnomAD v4 |
| 12 | g.102866659A>T | CA386299712 | PAH | c.446T>A (p.Phe149Tyr) c.431T>A (p.Phe144Tyr) n.542T>A n.530+10803T>A | |
| 12 | g.102866660A>C | CA386299715 | PAH | c.445T>G (p.Phe149Val) c.430T>G (p.Phe144Val) n.541T>G n.530+10802T>G | |
| 12 | g.102866660A>G | CA386299717 | PAH | c.445T>C (p.Phe149Leu) c.430T>C (p.Phe144Leu) n.541T>C n.530+10802T>C | |
| 12 | g.102866660A>T | CA386299718 | PAH | c.445T>A (p.Phe149Ile) c.430T>A (p.Phe144Ile) n.541T>A n.530+10802T>A | |
| 12 | g.102866661A>C | CA481332131 | PAH | c.444T>G (p.Gly148=) c.429T>G (p.Gly143=) n.540T>G n.530+10801T>G | gnomAD v4 |
| 12 | g.102866661A>G | CA481332132 | PAH | c.444T>C (p.Gly148=) c.429T>C (p.Gly143=) n.540T>C n.530+10801T>C | |
| 12 | g.102866661A>T | CA481332133 | PAH | c.444T>A (p.Gly148=) c.429T>A (p.Gly143=) n.540T>A n.530+10801T>A | |
| 12 | g.102866661_102866662delinsAC | CA2059457013 | PAH | c.443_444delinsGT (p.Gly148=) c.428_429delinsGT (p.Gly143=) n.539_540delinsGT n.530+10800_530+10801delinsGT | |
| 12 | g.102866662C>A | CA16020791 | PAH | c.443G>T (p.Gly148Val) c.428G>T (p.Gly143Val) n.539G>T n.530+10800G>T | ClinVar dbSNP |
| 12 | g.102866662C= | CA2059457015 | PAH | c.443G= (p.Gly148=) c.428G= (p.Gly143=) n.539G= n.530+10800G= | |
| 12 | g.102866662C>G | CA386299721 | PAH | c.443G>C (p.Gly148Ala) c.428G>C (p.Gly143Ala) n.539G>C n.530+10800G>C | |
| 12 | g.102866662C>T | CA16020790 | PAH | c.443G>A (p.Gly148Asp) c.428G>A (p.Gly143Asp) n.539G>A n.530+10800G>A | ClinVar dbSNP |
| 12 | g.102866664del | CA2059457014 | PAH | c.443del c.428del n.539del n.530+10800del | dbSNP |
| 12 | g.102866663C>A | CA386299724 | PAH | c.442G>T (p.Gly148Cys) c.427G>T (p.Gly143Cys) n.538G>T n.530+10799G>T | |
| 12 | g.102866663C= | CA2059457016 | PAH | c.442G= (p.Gly148=) c.427G= (p.Gly143=) n.538G= n.530+10799G= | |
| 12 | g.102866663C>G | CA16020789 | PAH | c.442G>C (p.Gly148Arg) c.427G>C (p.Gly143Arg) n.538G>C n.530+10799G>C | ClinVar dbSNP |
| 12 | g.102866663C>T | CA229551 | PAH | c.442G>A (p.Gly148Ser) c.427G>A (p.Gly143Ser) n.538G>A n.530+10799G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102866664C>A | CA386299731 | PAH | c.442-1G>T (n.442-1G>T) c.427-1G>T (n.427-1G>T) n.538-1G>T n.530+10798G>T | |
| 12 | g.102866664C= | CA2059457017 | PAH | c.442-1G= (n.442-1G=) c.427-1G= (n.427-1G=) n.538-1G= n.530+10798G= | |
| 12 | g.102866664C>G | CA386299729 | PAH | c.442-1G>C (n.442-1G>C) c.427-1G>C (n.427-1G>C) n.538-1G>C n.530+10798G>C | ClinVar dbSNP |
| 12 | g.102866664C>T | CA229550 | PAH | c.442-1G>A (n.442-1G>A) c.427-1G>A (n.427-1G>A) n.538-1G>A n.530+10798G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866665T>A | CA386299733 | PAH | c.442-2A>T (n.442-2A>T) c.427-2A>T (n.427-2A>T) n.538-2A>T n.530+10797A>T | |
| 12 | g.102866665T>C | CA386299735 | PAH | c.442-2A>G (n.442-2A>G) c.427-2A>G (n.427-2A>G) n.538-2A>G n.530+10797A>G | ClinVar dbSNP |
| 12 | g.102866665T>G | CA267655 | PAH | c.442-2A>C (n.442-2A>C) c.427-2A>C (n.427-2A>C) n.538-2A>C n.530+10797A>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866665T= | CA2059457018 | PAH | c.442-2A= (n.442-2A=) c.427-2A= (n.427-2A=) n.538-2A= n.530+10797A= | |
| 12 | g.102866666A= | CA2059457019 | PAH | c.442-3T= (n.442-3T=) c.427-3T= (n.427-3T=) n.538-3T= n.530+10796T= | |
| 12 | g.102866666A>C | CA2695217255 | PAH | c.442-3T>G (n.442-3T>G) c.427-3T>G (n.427-3T>G) n.538-3T>G n.530+10796T>G | |
| 12 | g.102866666A>G | CA6748920 | PAH | c.442-3T>C (n.442-3T>C) c.427-3T>C (n.427-3T>C) n.538-3T>C n.530+10796T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102866667G>A | CA951241593 | PAH | c.442-4C>T (n.442-4C>T) c.427-4C>T (n.427-4C>T) n.538-4C>T n.530+10795C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102866667G>C | CA242485599 | PAH | c.442-4C>G (n.442-4C>G) c.427-4C>G (n.427-4C>G) n.538-4C>G n.530+10795C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102866667G= | CA2059457020 | PAH | c.442-4C= (n.442-4C=) c.427-4C= (n.427-4C=) n.538-4C= n.530+10795C= | |
| 12 | g.102866668G>C | CA286504 | PAH | c.442-5C>G (n.442-5C>G) c.427-5C>G (n.427-5C>G) n.538-5C>G n.530+10794C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866668G= | CA2059457021 | PAH | c.442-5C= (n.442-5C=) c.427-5C= (n.427-5C=) n.538-5C= n.530+10794C= | |
| 12 | g.102866670G>A | CA2620527082 | PAH | c.442-7C>T (n.442-7C>T) c.427-7C>T (n.427-7C>T) n.538-7C>T n.530+10792C>T | ClinVar gnomAD v4 |
| 12 | g.102866670G= | CA2059457022 | PAH | c.442-7C= (n.442-7C=) c.427-7C= (n.427-7C=) n.538-7C= n.530+10792C= | |
| 12 | g.102866670G>T | CA6748921 | PAH | c.442-7C>A (n.442-7C>A) c.427-7C>A (n.427-7C>A) n.538-7C>A n.530+10792C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102866672A>G | CA2620527083 | PAH | c.442-9T>C (n.442-9T>C) c.427-9T>C (n.427-9T>C) n.538-9T>C n.530+10790T>C | gnomAD v4 |
| 12 | g.102866673A>G | CA2739277287 | PAH | c.442-10T>C (n.442-10T>C) c.427-10T>C (n.427-10T>C) n.538-10T>C n.530+10789T>C | ClinVar |
| 12 | g.102866675G>C | CA2059457024 | PAH | c.442-12C>G (n.442-12C>G) c.427-12C>G (n.427-12C>G) n.538-12C>G n.530+10787C>G | dbSNP gnomAD v4 |
| 12 | g.102866675G= | CA2059457023 | PAH | c.442-12C= (n.442-12C=) c.427-12C= (n.427-12C=) n.538-12C= n.530+10787C= | |
| 12 | g.102866677G>A | CA6748922 | PAH | c.442-14C>T (n.442-14C>T) c.427-14C>T (n.427-14C>T) n.538-14C>T n.530+10785C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866677G>C | CA2739277288 | PAH | c.442-14C>G (n.442-14C>G) c.427-14C>G (n.427-14C>G) n.538-14C>G n.530+10785C>G | ClinVar |
| 12 | g.102866677G= | CA2059457025 | PAH | c.442-14C= (n.442-14C=) c.427-14C= (n.427-14C=) n.538-14C= n.530+10785C= | |
| 12 | g.102866677_102866679delinsGAC | CA2059457026 | PAH | c.442-16_442-14delinsGTC (n.442-16_442-14delinsGTC) c.427-16_427-14delinsGTC (n.427-16_427-14delinsGTC) n.538-16_538-14delinsGTC n.530+10783_530+10785delinsGTC | |
| 12 | g.102866680_102866681del | CA607156452 | PAH | c.442-16_442-15del (n.442-16_442-15del) c.427-16_427-15del (n.427-16_427-15del) n.538-16_538-15del n.530+10783_530+10784del | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102866679C= | CA2059457027 | PAH | c.442-16G= (n.442-16G=) c.427-16G= (n.427-16G=) n.538-16G= n.530+10783G= | |
| 12 | g.102866679C>T | CA607156453 | PAH | c.442-16G>A (n.442-16G>A) c.427-16G>A (n.427-16G>A) n.538-16G>A n.530+10783G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102866680A= | CA2059457028 | PAH | c.442-17T= (n.442-17T=) c.427-17T= (n.427-17T=) n.538-17T= n.530+10782T= | |
| 12 | g.102866680A>G | CA682814345 | PAH | c.442-17T>C (n.442-17T>C) c.427-17T>C (n.427-17T>C) n.538-17T>C n.530+10782T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102866680A>T | CA2620527084 | PAH | c.442-17T>A (n.442-17T>A) c.427-17T>A (n.427-17T>A) n.538-17T>A n.530+10782T>A | gnomAD v4 |
| 12 | g.102866681C>A | CA2581063189 | PAH | c.442-18G>T (n.442-18G>T) c.427-18G>T (n.427-18G>T) n.538-18G>T n.530+10781G>T | |
| 12 | g.102866681C= | CA2059457029 | PAH | c.442-18G= (n.442-18G=) c.427-18G= (n.427-18G=) n.538-18G= n.530+10781G= | |
| 12 | g.102866681C>G | CA2581063190 | PAH | c.442-18G>C (n.442-18G>C) c.427-18G>C (n.427-18G>C) n.538-18G>C n.530+10781G>C | |
| 12 | g.102866681C>T | CA6748923 | PAH | c.442-18G>A (n.442-18G>A) c.427-18G>A (n.427-18G>A) n.538-18G>A n.530+10781G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866682C>A | CA2620527085 | PAH | c.442-19G>T (n.442-19G>T) c.427-19G>T (n.427-19G>T) n.538-19G>T n.530+10780G>T | gnomAD v4 |
| 12 | g.102866682C>T | CA2620527086 | PAH | c.442-19G>A (n.442-19G>A) c.427-19G>A (n.427-19G>A) n.538-19G>A n.530+10780G>A | gnomAD v4 |
| 12 | g.102866683T>C | CA2620527087 | PAH | c.442-20A>G (n.442-20A>G) c.427-20A>G (n.427-20A>G) n.538-20A>G n.530+10779A>G | gnomAD v4 |
| 12 | g.102866684G= | CA2059457030 | PAH | c.442-21C= (n.442-21C=) c.427-21C= (n.427-21C=) n.538-21C= n.530+10778C= | |
| 12 | g.102866684G>T | CA2059457031 | PAH | c.442-21C>A (n.442-21C>A) c.427-21C>A (n.427-21C>A) n.538-21C>A n.530+10778C>A | dbSNP gnomAD v4 |
| 12 | g.102866689_102866690del | CA2620527088 | PAH | c.442-24_442-23del (n.442-24_442-23del) c.427-24_427-23del (n.427-24_427-23del) n.538-24_538-23del n.530+10775_530+10776del | gnomAD v4 |
| 12 | g.102866687T>G | CA6748924 | PAH | c.442-24A>C (n.442-24A>C) c.427-24A>C (n.427-24A>C) n.538-24A>C n.530+10775A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102866687T= | CA2059457032 | PAH | c.442-24A= (n.442-24A=) c.427-24A= (n.427-24A=) n.538-24A= n.530+10775A= | |
| 12 | g.102866689T>A | CA6748925 | PAH | c.442-26A>T (n.442-26A>T) c.427-26A>T (n.427-26A>T) n.538-26A>T n.530+10773A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102866689T= | CA2059457033 | PAH | c.442-26A= (n.442-26A=) c.427-26A= (n.427-26A=) n.538-26A= n.530+10773A= | |
| 12 | g.102866690T>C | CA2059457035 | PAH | c.442-27A>G (n.442-27A>G) c.427-27A>G (n.427-27A>G) n.538-27A>G n.530+10772A>G | dbSNP gnomAD v4 |
| 12 | g.102866690T= | CA2059457034 | PAH | c.442-27A= (n.442-27A=) c.427-27A= (n.427-27A=) n.538-27A= n.530+10772A= | |
| 12 | g.102866691C>T | CA2575266936 | PAH | c.442-28G>A (n.442-28G>A) c.427-28G>A (n.427-28G>A) n.538-28G>A n.530+10771G>A | |
| 12 | g.102866694G>A | CA2620527089 | PAH | c.442-31C>T (n.442-31C>T) c.427-31C>T (n.427-31C>T) n.538-31C>T n.530+10768C>T | gnomAD v4 |
| 12 | g.102866694G>T | CA2620527090 | PAH | c.442-31C>A (n.442-31C>A) c.427-31C>A (n.427-31C>A) n.538-31C>A n.530+10768C>A | gnomAD v4 |
| 12 | g.102866695G>A | CA607156454 | PAH | c.442-32C>T (n.442-32C>T) c.427-32C>T (n.427-32C>T) n.538-32C>T n.530+10767C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102866695G>C | CA6748927 | PAH | c.442-32C>G (n.442-32C>G) c.427-32C>G (n.427-32C>G) n.538-32C>G n.530+10767C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866695G= | CA2059457036 | PAH | c.442-32C= (n.442-32C=) c.427-32C= (n.427-32C=) n.538-32C= n.530+10767C= | |
| 12 | g.102866695G>T | CA6748926 | PAH | c.442-32C>A (n.442-32C>A) c.427-32C>A (n.427-32C>A) n.538-32C>A n.530+10767C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102866696C= | CA2059457037 | PAH | c.442-33G= (n.442-33G=) c.427-33G= (n.427-33G=) n.538-33G= n.530+10766G= | |
| 12 | g.102866696C>T | CA242485637 | PAH | c.442-33G>A (n.442-33G>A) c.427-33G>A (n.427-33G>A) n.538-33G>A n.530+10766G>A | dbSNP |
| 12 | g.102866696_102866697insA | CA2620527091 | PAH | c.442-34_442-33insT (n.442-34_442-33insT) c.427-34_427-33insT (n.427-34_427-33insT) n.538-34_538-33insT n.530+10765_530+10766insT | gnomAD v4 |
| 12 | g.102866697T>C | CA2620527092 | PAH | c.442-34A>G (n.442-34A>G) c.427-34A>G (n.427-34A>G) n.538-34A>G n.530+10765A>G | gnomAD v4 |