| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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 dbSNP gnomAD v4 |
| 12 | g.102866599C= | CA2059456972 | PAH | c.506G= (p.Arg169=) c.491G= (p.Arg164=) n.602G= n.530+10863G= | dbSNP |
| 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= | dbSNP |
| 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= | dbSNP |
| 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.102866601_102866605delinsATAGC | CA2837240917 | PAH | c.500_504delinsGCTAT (p.Asn167Ser) c.485_489delinsGCTAT (p.Asn162Ser) n.596_600delinsGCTAT n.530+10857_530+10861delinsGCTAT | ClinVar dbSNP |
| 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= | dbSNP dbSNP |
| 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= | dbSNP |
| 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 | ClinVar 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= | dbSNP |
| 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= | dbSNP |
| 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= | dbSNP |
| 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= | dbSNP |
| 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= | dbSNP |