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.102866636_102866674dup | CA2797243704 | PAH | c.442-11_469dup c.427-11_454dup n.538-11_565dup n.530+10788_530+10826dup | |
12 | g.102866638del | CA2580085685 | PAH | c.467del (p.Ala156GlufsTer?) c.452del (p.Ala151GlufsTer?) n.563del n.530+10824del | ClinVar |
12 | g.102866638G>A | CA242485507 | PAH | c.467C>T (p.Ala156Val) c.452C>T (p.Ala151Val) n.563C>T n.530+10824C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102866638G>C | CA386299622 | PAH | c.467C>G (p.Ala156Gly) c.452C>G (p.Ala151Gly) n.563C>G n.530+10824C>G | ClinVar dbSNP |
12 | g.102866638G= | CA2059456998 | PAH | c.467C= (p.Ala156=) c.452C= (p.Ala151=) n.563C= n.530+10824C= | |
12 | g.102866638G>T | CA386299625 | PAH | c.467C>A (p.Ala156Glu) c.452C>A (p.Ala151Glu) n.563C>A n.530+10824C>A | ClinVar dbSNP gnomAD v4 |
12 | g.102866639C>A | CA386299626 | PAH | c.466G>T (p.Ala156Ser) c.451G>T (p.Ala151Ser) n.562G>T n.530+10823G>T | |
12 | g.102866639C= | CA2059456999 | PAH | c.466G= (p.Ala156=) c.451G= (p.Ala151=) n.562G= n.530+10823G= | |
12 | g.102866639C>G | CA229562 | PAH | c.466G>C (p.Ala156Pro) c.451G>C (p.Ala151Pro) n.562G>C n.530+10823G>C | ClinVar dbSNP |
12 | g.102866639C>T | CA386299627 | PAH | c.466G>A (p.Ala156Thr) c.451G>A (p.Ala151Thr) n.562G>A n.530+10823G>A | |
12 | g.102866640A= | CA2059457000 | PAH | c.465T= (p.Arg155=) c.450T= (p.Arg150=) n.561T= n.530+10822T= | |
12 | g.102866640A>C | CA481332110 | PAH | c.465T>G (p.Arg155=) c.450T>G (p.Arg150=) n.561T>G n.530+10822T>G | |
12 | g.102866640A>G | CA481332111 | PAH | c.465T>C (p.Arg155=) c.450T>C (p.Arg150=) n.561T>C n.530+10822T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102866640A>T | CA481332112 | PAH | c.465T>A (p.Arg155=) c.450T>A (p.Arg150=) n.561T>A n.530+10822T>A | |
12 | g.102866641C>A | CA386299629 | PAH | c.464G>T (p.Arg155Leu) c.449G>T (p.Arg150Leu) n.560G>T n.530+10821G>T | |
12 | g.102866641C= | CA2059457002 | PAH | c.464G= (p.Arg155=) c.449G= (p.Arg150=) n.560G= n.530+10821G= | |
12 | g.102866641C>G | CA229561 | PAH | c.464G>C (p.Arg155Pro) c.449G>C (p.Arg150Pro) n.560G>C n.530+10821G>C | ClinVar dbSNP gnomAD v4 |
12 | g.102866641C>T | CA229559 | PAH | c.464G>A (p.Arg155His) c.449G>A (p.Arg150His) n.560G>A n.530+10821G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.102866641_102866642delinsCG | CA2059457001 | PAH | c.463_464delinsCG (p.Arg155=) c.448_449delinsCG (p.Arg150=) n.559_560delinsCG n.530+10820_530+10821delinsCG | |
12 | g.102866642G>A | CA6748917 | PAH | c.463C>T (p.Arg155Cys) c.448C>T (p.Arg150Cys) n.559C>T n.530+10820C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102866642G>C | CA386299630 | PAH | c.463C>G (p.Arg155Gly) c.448C>G (p.Arg150Gly) n.559C>G n.530+10820C>G | |
12 | g.102866642G= | CA2059457003 | PAH | c.463C= (p.Arg155=) c.448C= (p.Arg150=) n.559C= n.530+10820C= | |
12 | g.102866642G>T | CA386299633 | PAH | c.463C>A (p.Arg155Ser) c.448C>A (p.Arg150Ser) n.559C>A n.530+10820C>A | |
12 | g.102866643del | CA1139532470 | PAH | c.463del (p.Arg155ValfsTer?) c.448del (p.Arg150ValfsTer?) n.559del n.530+10820del | 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.102866643G>A | CA481332113 | PAH | c.462C>T (p.Tyr154=) c.447C>T (p.Tyr149=) n.558C>T n.530+10819C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102866643G>C | CA386299635 | PAH | c.462C>G (p.Tyr154Ter) c.447C>G (p.Tyr149Ter) n.558C>G n.530+10819C>G | |
12 | g.102866643G= | CA2059457004 | PAH | c.462C= (p.Tyr154=) c.447C= (p.Tyr149=) n.558C= n.530+10819C= | |
12 | g.102866643G>T | CA386299637 | PAH | c.462C>A (p.Tyr154Ter) c.447C>A (p.Tyr149Ter) n.558C>A n.530+10819C>A | ClinVar dbSNP gnomAD v4 |
12 | g.102866644T>A | CA16020795 | PAH | c.461A>T (p.Tyr154Phe) c.446A>T (p.Tyr149Phe) n.557A>T n.530+10818A>T | ClinVar dbSNP gnomAD v4 |
12 | g.102866644T>C | CA16020794 | PAH | c.461A>G (p.Tyr154Cys) c.446A>G (p.Tyr149Cys) n.557A>G n.530+10818A>G | ClinVar dbSNP |
12 | g.102866644T>G | CA386299641 | PAH | c.461A>C (p.Tyr154Ser) c.446A>C (p.Tyr149Ser) n.557A>C n.530+10818A>C | |
12 | g.102866644T= | CA2059457005 | PAH | c.461A= (p.Tyr154=) c.446A= (p.Tyr149=) n.557A= n.530+10818A= | |
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 |