| 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.102866633G>A | CA229570 | PAH | c.472C>T (p.Arg158Trp) c.457C>T (p.Arg153Trp) n.568C>T n.530+10829C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866633G>C | CA386299607 | PAH | c.472C>G (p.Arg158Gly) c.457C>G (p.Arg153Gly) n.568C>G n.530+10829C>G | ClinVar |
| 12 | g.102866633G= | CA2059456994 | PAH | c.472C= (p.Arg158=) c.457C= (p.Arg153=) n.568C= n.530+10829C= | |
| 12 | g.102866633G>T | CA481332105 | PAH | c.472C>A (p.Arg158=) c.457C>A (p.Arg153=) n.568C>A n.530+10829C>A | |
| 12 | g.102866634T>A | CA386299609 | PAH | c.471A>T (p.Arg157Ser) c.456A>T (p.Arg152Ser) n.567A>T n.530+10828A>T | |
| 12 | g.102866634T>C | CA242485488 | PAH | c.471A>G (p.Arg157=) c.456A>G (p.Arg152=) n.567A>G n.530+10828A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102866634T>G | CA229569 | PAH | c.471A>C (p.Arg157Ser) c.456A>C (p.Arg152Ser) n.567A>C n.530+10828A>C | ClinVar dbSNP |
| 12 | g.102866634T= | CA2059456995 | PAH | c.471A= (p.Arg157=) c.456A= (p.Arg152=) n.567A= n.530+10828A= | |
| 12 | g.102866634_102866635delinsGT | CA16020798 | PAH | c.470_471delinsAC (p.Arg157Asn) c.455_456delinsAC (p.Arg152Asn) n.566_567delinsAC n.530+10827_530+10828delinsAC | ClinVar dbSNP |
| 12 | g.102866634_102866635delinsTC | CA2059456996 | PAH | c.470_471delinsGA (p.Arg157=) c.455_456delinsGA (p.Arg152=) n.566_567delinsGA n.530+10827_530+10828delinsGA | |
| 12 | g.102866634_102866636delinsGTG | CA2695217254 | PAH | c.469_471delinsCAC (p.Arg157His) c.454_456delinsCAC (p.Arg152His) n.565_567delinsCAC n.530+10826_530+10828delinsCAC | |
| 12 | g.102866635C>A | CA229567 | PAH | c.470G>T (p.Arg157Ile) c.455G>T (p.Arg152Ile) n.566G>T n.530+10827G>T | ClinVar dbSNP |
| 12 | g.102866635C= | CA2059456997 | PAH | c.470G= (p.Arg157=) c.455G= (p.Arg152=) n.566G= n.530+10827G= | |
| 12 | g.102866635C>G | CA16020797 | PAH | c.470G>C (p.Arg157Thr) c.455G>C (p.Arg152Thr) n.566G>C n.530+10827G>C | ClinVar dbSNP |
| 12 | g.102866635C>T | CA229565 | PAH | c.470G>A (p.Arg157Lys) c.455G>A (p.Arg152Lys) n.566G>A n.530+10827G>A | ClinVar dbSNP |
| 12 | g.102866636T>A | CA386299616 | PAH | c.469A>T (p.Arg157Ter) c.454A>T (p.Arg152Ter) n.565A>T n.530+10826A>T | |
| 12 | g.102866636T>C | CA386299619 | PAH | c.469A>G (p.Arg157Gly) c.454A>G (p.Arg152Gly) n.565A>G n.530+10826A>G | |
| 12 | g.102866636T>G | CA481332106 | PAH | c.469A>C (p.Arg157=) c.454A>C (p.Arg152=) n.565A>C n.530+10826A>C | |
| 12 | g.102866637T>A | CA481332107 | PAH | c.468A>T (p.Ala156=) c.453A>T (p.Ala151=) n.564A>T n.530+10825A>T | |
| 12 | g.102866637T>C | CA481332108 | PAH | c.468A>G (p.Ala156=) c.453A>G (p.Ala151=) n.564A>G n.530+10825A>G | |
| 12 | g.102866637T>G | CA481332109 | PAH | c.468A>C (p.Ala156=) c.453A>C (p.Ala151=) n.564A>C n.530+10825A>C | |
| 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 |