| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.102866624A= | CA2059456991 | PAH | c.481T= (p.Phe161=) c.466T= (p.Phe156=) n.577T= n.530+10838T= | dbSNP |
| 12 | g.102866624A>C | CA386299568 | PAH | c.481T>G (p.Phe161Val) c.466T>G (p.Phe156Val) n.577T>G n.530+10838T>G | |
| 12 | g.102866624A>G | CA386299569 | PAH | c.481T>C (p.Phe161Leu) c.466T>C (p.Phe156Leu) n.577T>C n.530+10838T>C | dbSNP |
| 12 | g.102866624A>T | CA386299566 | PAH | c.481T>A (p.Phe161Ile) c.466T>A (p.Phe156Ile) n.577T>A n.530+10838T>A | |
| 12 | g.102866625C>A | CA386299572 | PAH | c.480G>T (p.Gln160His) c.465G>T (p.Gln155His) n.576G>T n.530+10837G>T | |
| 12 | g.102866625C= | CA3197761137 | PAH | c.480G= (p.Gln160=) c.465G= (p.Gln155=) n.576G= n.530+10837G= | dbSNP |
| 12 | g.102866625C>G | CA386299573 | PAH | c.480G>C (p.Gln160His) c.465G>C (p.Gln155His) n.576G>C n.530+10837G>C | |
| 12 | g.102866625C>T | CA481332100 | PAH | c.480G>A (p.Gln160=) c.465G>A (p.Gln155=) n.576G>A n.530+10837G>A | dbSNP gnomAD v4 |
| 12 | g.102866626T>A | CA386299575 | PAH | c.479A>T (p.Gln160Leu) c.464A>T (p.Gln155Leu) n.575A>T n.530+10836A>T | |
| 12 | g.102866626T>C | CA386299577 | PAH | c.479A>G (p.Gln160Arg) c.464A>G (p.Gln155Arg) n.575A>G n.530+10836A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102866626T>G | CA229573 | PAH | c.479A>C (p.Gln160Pro) c.464A>C (p.Gln155Pro) n.575A>C n.530+10836A>C | ClinVar dbSNP |
| 12 | g.102866626T= | CA2059456992 | PAH | c.479A= (p.Gln160=) c.464A= (p.Gln155=) n.575A= n.530+10836A= | dbSNP |
| 12 | g.102866627G>A | CA16020799 | PAH | c.478C>T (p.Gln160Ter) c.463C>T (p.Gln155Ter) n.574C>T n.530+10835C>T | ClinVar dbSNP |
| 12 | g.102866627G>C | CA386299581 | PAH | c.478C>G (p.Gln160Glu) c.463C>G (p.Gln155Glu) n.574C>G n.530+10835C>G | |
| 12 | g.102866627G= | CA3197761147 | PAH | c.478C= (p.Gln160=) c.463C= (p.Gln155=) n.574C= n.530+10835C= | dbSNP |
| 12 | g.102866627G>T | CA386299583 | PAH | c.478C>A (p.Gln160Lys) c.463C>A (p.Gln155Lys) n.574C>A n.530+10835C>A | |
| 12 | g.102866628C>A | CA386299586 | PAH | c.477G>T (p.Lys159Asn) c.462G>T (p.Lys154Asn) n.573G>T n.530+10834G>T | |
| 12 | g.102866628C= | CA3197761171 | PAH | c.477G= (p.Lys159=) c.462G= (p.Lys154=) n.573G= n.530+10834G= | dbSNP |
| 12 | g.102866628C>G | CA386299588 | PAH | c.477G>C (p.Lys159Asn) c.462G>C (p.Lys154Asn) n.573G>C n.530+10834G>C | dbSNP gnomAD v4 |
| 12 | g.102866628C>T | CA481332101 | PAH | c.477G>A (p.Lys159=) c.462G>A (p.Lys154=) n.573G>A n.530+10834G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102866629T>A | CA386299591 | PAH | c.476A>T (p.Lys159Met) c.461A>T (p.Lys154Met) n.572A>T n.530+10833A>T | |
| 12 | g.102866629T>C | CA386299592 | PAH | c.476A>G (p.Lys159Arg) c.461A>G (p.Lys154Arg) n.572A>G n.530+10833A>G | |
| 12 | g.102866629T>G | CA386299594 | PAH | c.476A>C (p.Lys159Thr) c.461A>C (p.Lys154Thr) n.572A>C n.530+10833A>C | |
| 12 | g.102866630T>A | CA386299600 | PAH | c.475A>T (p.Lys159Ter) c.460A>T (p.Lys154Ter) n.571A>T n.530+10832A>T | |
| 12 | g.102866630T>C | CA386299598 | PAH | c.475A>G (p.Lys159Glu) c.460A>G (p.Lys154Glu) n.571A>G n.530+10832A>G | |
| 12 | g.102866630T>G | CA386299596 | PAH | c.475A>C (p.Lys159Gln) c.460A>C (p.Lys154Gln) n.571A>C n.530+10832A>C | |
| 12 | g.102866631C>A | CA481332104 | PAH | c.474G>T (p.Arg158=) c.459G>T (p.Arg153=) n.570G>T n.530+10831G>T | |
| 12 | g.102866631C= | CA3194771228 | PAH | c.474G= (p.Arg158=) c.459G= (p.Arg153=) n.570G= n.530+10831G= | dbSNP |
| 12 | g.102866631C>G | CA481332103 | PAH | c.474G>C (p.Arg158=) c.459G>C (p.Arg153=) n.570G>C n.530+10831G>C | |
| 12 | g.102866631C>T | CA481332102 | PAH | c.474G>A (p.Arg158=) c.459G>A (p.Arg153=) n.570G>A n.530+10831G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.102866632dup | CA2979027172 | PAH | c.474dup (p.Lys159GlufsTer5) c.459dup (p.Lys154GlufsTer5) n.570dup n.530+10831dup | |
| 12 | g.102866632C>A | CA386299601 | PAH | c.473G>T (p.Arg158Leu) c.458G>T (p.Arg153Leu) n.569G>T n.530+10830G>T | |
| 12 | g.102866632C= | CA2059456993 | PAH | c.473G= (p.Arg158=) c.458G= (p.Arg153=) n.569G= n.530+10830G= | dbSNP |
| 12 | g.102866632C>G | CA229571 | PAH | c.473G>C (p.Arg158Pro) c.458G>C (p.Arg153Pro) n.569G>C n.530+10830G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102866632C>T | CA251530 | PAH | c.473G>A (p.Arg158Gln) c.458G>A (p.Arg153Gln) n.569G>A n.530+10830G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 dbSNP |
| 12 | g.102866633G= | CA2059456994 | PAH | c.472C= (p.Arg158=) c.457C= (p.Arg153=) n.568C= n.530+10829C= | dbSNP |
| 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= | dbSNP |
| 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= | dbSNP |