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.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 |