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.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.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 |