| 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.102866590_102866591delinsAC | CA2059456965 | PAH | c.509+5_509+6delinsGT (n.509+5_509+6delinsGT) c.494+5_494+6delinsGT (n.494+5_494+6delinsGT) n.605+5_605+6delinsGT n.530+10871_530+10872delinsGT | |
| 12 | g.102866591del | CA229592 | PAH | c.509+5del (n.509+5del) c.494+5del (n.494+5del) n.605+5del n.530+10871del | ClinVar dbSNP |
| 12 | g.102866594A>C | CA386299436 | PAH | c.509+2T>G (n.509+2T>G) c.494+2T>G (n.494+2T>G) n.605+2T>G n.530+10868T>G | |
| 12 | g.102866594A>G | CA386299434 | PAH | c.509+2T>C (n.509+2T>C) c.494+2T>C (n.494+2T>C) n.605+2T>C n.530+10868T>C | |
| 12 | g.102866594A>T | CA386299432 | PAH | c.509+2T>A (n.509+2T>A) c.494+2T>A (n.494+2T>A) n.605+2T>A n.530+10868T>A | |
| 12 | g.102866594dup | CA2620527006 | PAH | c.509+2dup (n.509+2dup) c.494+2dup (n.494+2dup) n.605+2dup n.530+10868dup | gnomAD v4 |
| 12 | g.102866594_102866595delinsAC | CA2059456967 | PAH | c.509+1_509+2delinsGT (n.509+1_509+2delinsGT) c.494+1_494+2delinsGT (n.494+1_494+2delinsGT) n.605+1_605+2delinsGT n.530+10867_530+10868delinsGT | |
| 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.102866595del | CA229590 | PAH | c.509+1del (n.509+1del) c.494+1del (n.494+1del) n.605+1del n.530+10867del | ClinVar dbSNP |
| 12 | g.102866595C>A | CA386299438 | PAH | c.509+1G>T (n.509+1G>T) c.494+1G>T (n.494+1G>T) n.605+1G>T n.530+10867G>T | |
| 12 | g.102866595C= | CA2059456969 | PAH | c.509+1G= (n.509+1G=) c.494+1G= (n.494+1G=) n.605+1G= n.530+10867G= | |
| 12 | g.102866595C>G | CA386299439 | PAH | c.509+1G>C (n.509+1G>C) c.494+1G>C (n.494+1G>C) n.605+1G>C n.530+10867G>C | gnomAD v4 |
| 12 | g.102866595C>T | CA229589 | PAH | c.509+1G>A (n.509+1G>A) c.494+1G>A (n.494+1G>A) n.605+1G>A n.530+10867G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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.102866596T>A | CA386299444 | PAH | c.509A>T (p.His170Leu) c.494A>T (p.His165Leu) n.605A>T n.530+10866A>T | gnomAD v4 |
| 12 | g.102866596T>C | CA229593 | PAH | c.509A>G (p.His170Arg) c.494A>G (p.His165Arg) n.605A>G n.530+10866A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866596T>G | CA16020805 | PAH | c.509A>C (p.His170Pro) c.494A>C (p.His165Pro) n.605A>C n.530+10866A>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866596T= | CA2059456970 | PAH | c.509A= (p.His170=) c.494A= (p.His165=) n.605A= n.530+10866A= | |
| 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= |