| 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.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 |