UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.59193507A= | CA1549218565 | PDE4D | c.485T= (p.Phe162=) c.677T= (p.Phe226=) c.347T= (p.Phe116=) c.242T= (p.Phe81=) c.269T= (p.Phe90=) n.340T= c.311T= (p.Phe104=) c.494T= (p.Phe165=) c.287T= (p.Phe96=) c.-98-154536T= (n.-98-154536T=) n.189T= c.284T= (p.Phe95=) n.222T= c.641T= (p.Phe214=) c.464T= (p.Phe155=) c.257T= (p.Phe86=) c.236T= (p.Phe79=) c.173T= (p.Phe58=) c.-18T= (n.-18T=) c.-274T= (n.-274T=) c.479T= (p.Phe160=) | |
| 5 | g.59193507A>C | CA150719 | PDE4D | c.485T>G (p.Phe162Cys) c.677T>G (p.Phe226Cys) c.347T>G (p.Phe116Cys) c.242T>G (p.Phe81Cys) c.269T>G (p.Phe90Cys) n.340T>G c.311T>G (p.Phe104Cys) c.494T>G (p.Phe165Cys) c.287T>G (p.Phe96Cys) c.-98-154536T>G (n.-98-154536T>G) n.189T>G c.284T>G (p.Phe95Cys) n.222T>G c.641T>G (p.Phe214Cys) c.464T>G (p.Phe155Cys) c.257T>G (p.Phe86Cys) c.236T>G (p.Phe79Cys) c.173T>G (p.Phe58Cys) c.-18T>G (n.-18T>G) c.-274T>G (n.-274T>G) c.479T>G (p.Phe160Cys) | ClinVar dbSNP |
| 5 | g.59193507A>G | CA128848 | PDE4D | c.485T>C (p.Phe162Ser) c.677T>C (p.Phe226Ser) c.347T>C (p.Phe116Ser) c.242T>C (p.Phe81Ser) c.269T>C (p.Phe90Ser) n.340T>C c.311T>C (p.Phe104Ser) c.494T>C (p.Phe165Ser) c.287T>C (p.Phe96Ser) c.-98-154536T>C (n.-98-154536T>C) n.189T>C c.284T>C (p.Phe95Ser) n.222T>C c.641T>C (p.Phe214Ser) c.464T>C (p.Phe155Ser) c.257T>C (p.Phe86Ser) c.236T>C (p.Phe79Ser) c.173T>C (p.Phe58Ser) c.-18T>C (n.-18T>C) c.-274T>C (n.-274T>C) c.479T>C (p.Phe160Ser) | ClinVar dbSNP |
| 5 | g.59193507A>T | CA359930484 | PDE4D | c.485T>A (p.Phe162Tyr) c.677T>A (p.Phe226Tyr) c.347T>A (p.Phe116Tyr) c.242T>A (p.Phe81Tyr) c.269T>A (p.Phe90Tyr) n.340T>A c.311T>A (p.Phe104Tyr) c.494T>A (p.Phe165Tyr) c.287T>A (p.Phe96Tyr) c.-98-154536T>A (n.-98-154536T>A) n.189T>A c.284T>A (p.Phe95Tyr) n.222T>A c.641T>A (p.Phe214Tyr) c.464T>A (p.Phe155Tyr) c.257T>A (p.Phe86Tyr) c.236T>A (p.Phe79Tyr) c.173T>A (p.Phe58Tyr) c.-18T>A (n.-18T>A) c.-274T>A (n.-274T>A) c.479T>A (p.Phe160Tyr) | |
| 5 | g.59193508A>C | CA359930487 | PDE4D | c.484T>G (p.Phe162Val) c.676T>G (p.Phe226Val) c.346T>G (p.Phe116Val) c.241T>G (p.Phe81Val) c.268T>G (p.Phe90Val) n.339T>G c.310T>G (p.Phe104Val) c.493T>G (p.Phe165Val) c.286T>G (p.Phe96Val) c.-98-154537T>G (n.-98-154537T>G) n.188T>G c.283T>G (p.Phe95Val) n.221T>G c.640T>G (p.Phe214Val) c.463T>G (p.Phe155Val) c.256T>G (p.Phe86Val) c.235T>G (p.Phe79Val) c.172T>G (p.Phe58Val) c.-19T>G (n.-19T>G) c.-275T>G (n.-275T>G) c.478T>G (p.Phe160Val) | |
| 5 | g.59193508A>G | CA359930485 | PDE4D | c.484T>C (p.Phe162Leu) c.676T>C (p.Phe226Leu) c.346T>C (p.Phe116Leu) c.241T>C (p.Phe81Leu) c.268T>C (p.Phe90Leu) n.339T>C c.310T>C (p.Phe104Leu) c.493T>C (p.Phe165Leu) c.286T>C (p.Phe96Leu) c.-98-154537T>C (n.-98-154537T>C) n.188T>C c.283T>C (p.Phe95Leu) n.221T>C c.640T>C (p.Phe214Leu) c.463T>C (p.Phe155Leu) c.256T>C (p.Phe86Leu) c.235T>C (p.Phe79Leu) c.172T>C (p.Phe58Leu) c.-19T>C (n.-19T>C) c.-275T>C (n.-275T>C) c.478T>C (p.Phe160Leu) | |
| 5 | g.59193508A>T | CA359930486 | PDE4D | c.484T>A (p.Phe162Ile) c.676T>A (p.Phe226Ile) c.346T>A (p.Phe116Ile) c.241T>A (p.Phe81Ile) c.268T>A (p.Phe90Ile) n.339T>A c.310T>A (p.Phe104Ile) c.493T>A (p.Phe165Ile) c.286T>A (p.Phe96Ile) c.-98-154537T>A (n.-98-154537T>A) n.188T>A c.283T>A (p.Phe95Ile) n.221T>A c.640T>A (p.Phe214Ile) c.463T>A (p.Phe155Ile) c.256T>A (p.Phe86Ile) c.235T>A (p.Phe79Ile) c.172T>A (p.Phe58Ile) c.-19T>A (n.-19T>A) c.-275T>A (n.-275T>A) c.478T>A (p.Phe160Ile) | |
| 5 | g.59193509T>A | CA444501188 | PDE4D | c.483A>T (p.Pro161=) c.675A>T (p.Pro225=) c.345A>T (p.Pro115=) c.240A>T (p.Pro80=) c.267A>T (p.Pro89=) n.338A>T c.309A>T (p.Pro103=) c.492A>T (p.Pro164=) c.285A>T (p.Pro95=) c.-98-154538A>T (n.-98-154538A>T) n.187A>T c.282A>T (p.Pro94=) n.220A>T c.639A>T (p.Pro213=) c.462A>T (p.Pro154=) c.255A>T (p.Pro85=) c.234A>T (p.Pro78=) c.171A>T (p.Pro57=) c.-20A>T (n.-20A>T) c.-276A>T (n.-276A>T) c.477A>T (p.Pro159=) | |
| 5 | g.59193509T>C | CA444501189 | PDE4D | c.483A>G (p.Pro161=) c.675A>G (p.Pro225=) c.345A>G (p.Pro115=) c.240A>G (p.Pro80=) c.267A>G (p.Pro89=) n.338A>G c.309A>G (p.Pro103=) c.492A>G (p.Pro164=) c.285A>G (p.Pro95=) c.-98-154538A>G (n.-98-154538A>G) n.187A>G c.282A>G (p.Pro94=) n.220A>G c.639A>G (p.Pro213=) c.462A>G (p.Pro154=) c.255A>G (p.Pro85=) c.234A>G (p.Pro78=) c.171A>G (p.Pro57=) c.-20A>G (n.-20A>G) c.-276A>G (n.-276A>G) c.477A>G (p.Pro159=) | gnomAD v4 |
| 5 | g.59193509T>G | CA444501190 | PDE4D | c.483A>C (p.Pro161=) c.675A>C (p.Pro225=) c.345A>C (p.Pro115=) c.240A>C (p.Pro80=) c.267A>C (p.Pro89=) n.338A>C c.309A>C (p.Pro103=) c.492A>C (p.Pro164=) c.285A>C (p.Pro95=) c.-98-154538A>C (n.-98-154538A>C) n.187A>C c.282A>C (p.Pro94=) n.220A>C c.639A>C (p.Pro213=) c.462A>C (p.Pro154=) c.255A>C (p.Pro85=) c.234A>C (p.Pro78=) c.171A>C (p.Pro57=) c.-20A>C (n.-20A>C) c.-276A>C (n.-276A>C) c.477A>C (p.Pro159=) | |
| 5 | g.59193510G>A | CA359930488 | PDE4D | c.482C>T (p.Pro161Leu) c.674C>T (p.Pro225Leu) c.344C>T (p.Pro115Leu) c.239C>T (p.Pro80Leu) c.266C>T (p.Pro89Leu) n.337C>T c.308C>T (p.Pro103Leu) c.491C>T (p.Pro164Leu) c.284C>T (p.Pro95Leu) c.-98-154539C>T (n.-98-154539C>T) n.186C>T c.281C>T (p.Pro94Leu) n.219C>T c.638C>T (p.Pro213Leu) c.461C>T (p.Pro154Leu) c.254C>T (p.Pro85Leu) c.233C>T (p.Pro78Leu) c.170C>T (p.Pro57Leu) c.-21C>T (n.-21C>T) c.-277C>T (n.-277C>T) c.476C>T (p.Pro159Leu) | ClinVar |
| 5 | g.59193510G>C | CA359930489 | PDE4D | c.482C>G (p.Pro161Arg) c.674C>G (p.Pro225Arg) c.344C>G (p.Pro115Arg) c.239C>G (p.Pro80Arg) c.266C>G (p.Pro89Arg) n.337C>G c.308C>G (p.Pro103Arg) c.491C>G (p.Pro164Arg) c.284C>G (p.Pro95Arg) c.-98-154539C>G (n.-98-154539C>G) n.186C>G c.281C>G (p.Pro94Arg) n.219C>G c.638C>G (p.Pro213Arg) c.461C>G (p.Pro154Arg) c.254C>G (p.Pro85Arg) c.233C>G (p.Pro78Arg) c.170C>G (p.Pro57Arg) c.-21C>G (n.-21C>G) c.-277C>G (n.-277C>G) c.476C>G (p.Pro159Arg) | |
| 5 | g.59193510G>T | CA359930490 | PDE4D | c.482C>A (p.Pro161Gln) c.674C>A (p.Pro225Gln) c.344C>A (p.Pro115Gln) c.239C>A (p.Pro80Gln) c.266C>A (p.Pro89Gln) n.337C>A c.308C>A (p.Pro103Gln) c.491C>A (p.Pro164Gln) c.284C>A (p.Pro95Gln) c.-98-154539C>A (n.-98-154539C>A) n.186C>A c.281C>A (p.Pro94Gln) n.219C>A c.638C>A (p.Pro213Gln) c.461C>A (p.Pro154Gln) c.254C>A (p.Pro85Gln) c.233C>A (p.Pro78Gln) c.170C>A (p.Pro57Gln) c.-21C>A (n.-21C>A) c.-277C>A (n.-277C>A) c.476C>A (p.Pro159Gln) | |
| 5 | g.59193511G>A | CA359930491 | PDE4D | c.481C>T (p.Pro161Ser) c.673C>T (p.Pro225Ser) c.343C>T (p.Pro115Ser) c.238C>T (p.Pro80Ser) c.265C>T (p.Pro89Ser) n.336C>T c.307C>T (p.Pro103Ser) c.490C>T (p.Pro164Ser) c.283C>T (p.Pro95Ser) c.-98-154540C>T (n.-98-154540C>T) n.185C>T c.280C>T (p.Pro94Ser) n.218C>T c.637C>T (p.Pro213Ser) c.460C>T (p.Pro154Ser) c.253C>T (p.Pro85Ser) c.232C>T (p.Pro78Ser) c.169C>T (p.Pro57Ser) c.-22C>T (n.-22C>T) c.-278C>T (n.-278C>T) c.475C>T (p.Pro159Ser) | |
| 5 | g.59193511G>C | CA359930492 | PDE4D | c.481C>G (p.Pro161Ala) c.673C>G (p.Pro225Ala) c.343C>G (p.Pro115Ala) c.238C>G (p.Pro80Ala) c.265C>G (p.Pro89Ala) n.336C>G c.307C>G (p.Pro103Ala) c.490C>G (p.Pro164Ala) c.283C>G (p.Pro95Ala) c.-98-154540C>G (n.-98-154540C>G) n.185C>G c.280C>G (p.Pro94Ala) n.218C>G c.637C>G (p.Pro213Ala) c.460C>G (p.Pro154Ala) c.253C>G (p.Pro85Ala) c.232C>G (p.Pro78Ala) c.169C>G (p.Pro57Ala) c.-22C>G (n.-22C>G) c.-278C>G (n.-278C>G) c.475C>G (p.Pro159Ala) | |
| 5 | g.59193511G= | CA1549218566 | PDE4D | c.481C= (p.Pro161=) c.673C= (p.Pro225=) c.343C= (p.Pro115=) c.238C= (p.Pro80=) c.265C= (p.Pro89=) n.336C= c.307C= (p.Pro103=) c.490C= (p.Pro164=) c.283C= (p.Pro95=) c.-98-154540C= (n.-98-154540C=) n.185C= c.280C= (p.Pro94=) n.218C= c.637C= (p.Pro213=) c.460C= (p.Pro154=) c.253C= (p.Pro85=) c.232C= (p.Pro78=) c.169C= (p.Pro57=) c.-22C= (n.-22C=) c.-278C= (n.-278C=) c.475C= (p.Pro159=) | |
| 5 | g.59193511G>T | CA128846 | PDE4D | c.481C>A (p.Pro161Thr) c.673C>A (p.Pro225Thr) c.343C>A (p.Pro115Thr) c.238C>A (p.Pro80Thr) c.265C>A (p.Pro89Thr) n.336C>A c.307C>A (p.Pro103Thr) c.490C>A (p.Pro164Thr) c.283C>A (p.Pro95Thr) c.-98-154540C>A (n.-98-154540C>A) n.185C>A c.280C>A (p.Pro94Thr) n.218C>A c.637C>A (p.Pro213Thr) c.460C>A (p.Pro154Thr) c.253C>A (p.Pro85Thr) c.232C>A (p.Pro78Thr) c.169C>A (p.Pro57Thr) c.-22C>A (n.-22C>A) c.-278C>A (n.-278C>A) c.475C>A (p.Pro159Thr) | ClinVar dbSNP |
| 5 | g.59193512A>C | CA444501191 | PDE4D | c.480T>G (p.Thr160=) c.672T>G (p.Thr224=) c.342T>G (p.Thr114=) c.237T>G (p.Thr79=) c.264T>G (p.Thr88=) n.335T>G c.306T>G (p.Thr102=) c.489T>G (p.Thr163=) c.282T>G (p.Thr94=) c.-98-154541T>G (n.-98-154541T>G) n.184T>G c.279T>G (p.Thr93=) n.217T>G c.636T>G (p.Thr212=) c.459T>G (p.Thr153=) c.252T>G (p.Thr84=) c.231T>G (p.Thr77=) c.168T>G (p.Thr56=) c.-23T>G (n.-23T>G) c.-279T>G (n.-279T>G) c.474T>G (p.Thr158=) | |
| 5 | g.59193512A>G | CA444501192 | PDE4D | c.480T>C (p.Thr160=) c.672T>C (p.Thr224=) c.342T>C (p.Thr114=) c.237T>C (p.Thr79=) c.264T>C (p.Thr88=) n.335T>C c.306T>C (p.Thr102=) c.489T>C (p.Thr163=) c.282T>C (p.Thr94=) c.-98-154541T>C (n.-98-154541T>C) n.184T>C c.279T>C (p.Thr93=) n.217T>C c.636T>C (p.Thr212=) c.459T>C (p.Thr153=) c.252T>C (p.Thr84=) c.231T>C (p.Thr77=) c.168T>C (p.Thr56=) c.-23T>C (n.-23T>C) c.-279T>C (n.-279T>C) c.474T>C (p.Thr158=) | |
| 5 | g.59193512A>T | CA444501193 | PDE4D | c.480T>A (p.Thr160=) c.672T>A (p.Thr224=) c.342T>A (p.Thr114=) c.237T>A (p.Thr79=) c.264T>A (p.Thr88=) n.335T>A c.306T>A (p.Thr102=) c.489T>A (p.Thr163=) c.282T>A (p.Thr94=) c.-98-154541T>A (n.-98-154541T>A) n.184T>A c.279T>A (p.Thr93=) n.217T>A c.636T>A (p.Thr212=) c.459T>A (p.Thr153=) c.252T>A (p.Thr84=) c.231T>A (p.Thr77=) c.168T>A (p.Thr56=) c.-23T>A (n.-23T>A) c.-279T>A (n.-279T>A) c.474T>A (p.Thr158=) | |
| 5 | g.59193513G>A | CA359930493 | PDE4D | c.479C>T (p.Thr160Ile) c.671C>T (p.Thr224Ile) c.341C>T (p.Thr114Ile) c.236C>T (p.Thr79Ile) c.263C>T (p.Thr88Ile) n.334C>T c.305C>T (p.Thr102Ile) c.488C>T (p.Thr163Ile) c.281C>T (p.Thr94Ile) c.-98-154542C>T (n.-98-154542C>T) n.183C>T c.278C>T (p.Thr93Ile) n.216C>T c.635C>T (p.Thr212Ile) c.458C>T (p.Thr153Ile) c.251C>T (p.Thr84Ile) c.230C>T (p.Thr77Ile) c.167C>T (p.Thr56Ile) c.-24C>T (n.-24C>T) c.-280C>T (n.-280C>T) c.473C>T (p.Thr158Ile) | |
| 5 | g.59193513G>C | CA359930494 | PDE4D | c.479C>G (p.Thr160Ser) c.671C>G (p.Thr224Ser) c.341C>G (p.Thr114Ser) c.236C>G (p.Thr79Ser) c.263C>G (p.Thr88Ser) n.334C>G c.305C>G (p.Thr102Ser) c.488C>G (p.Thr163Ser) c.281C>G (p.Thr94Ser) c.-98-154542C>G (n.-98-154542C>G) n.183C>G c.278C>G (p.Thr93Ser) n.216C>G c.635C>G (p.Thr212Ser) c.458C>G (p.Thr153Ser) c.251C>G (p.Thr84Ser) c.230C>G (p.Thr77Ser) c.167C>G (p.Thr56Ser) c.-24C>G (n.-24C>G) c.-280C>G (n.-280C>G) c.473C>G (p.Thr158Ser) | |
| 5 | g.59193513G>T | CA359930495 | PDE4D | c.479C>A (p.Thr160Asn) c.671C>A (p.Thr224Asn) c.341C>A (p.Thr114Asn) c.236C>A (p.Thr79Asn) c.263C>A (p.Thr88Asn) n.334C>A c.305C>A (p.Thr102Asn) c.488C>A (p.Thr163Asn) c.281C>A (p.Thr94Asn) c.-98-154542C>A (n.-98-154542C>A) n.183C>A c.278C>A (p.Thr93Asn) n.216C>A c.635C>A (p.Thr212Asn) c.458C>A (p.Thr153Asn) c.251C>A (p.Thr84Asn) c.230C>A (p.Thr77Asn) c.167C>A (p.Thr56Asn) c.-24C>A (n.-24C>A) c.-280C>A (n.-280C>A) c.473C>A (p.Thr158Asn) | |
| 5 | g.59193514T>A | CA359930496 | PDE4D | c.478A>T (p.Thr160Ser) c.670A>T (p.Thr224Ser) c.340A>T (p.Thr114Ser) c.235A>T (p.Thr79Ser) c.262A>T (p.Thr88Ser) n.333A>T c.304A>T (p.Thr102Ser) c.487A>T (p.Thr163Ser) c.280A>T (p.Thr94Ser) c.-98-154543A>T (n.-98-154543A>T) n.182A>T c.277A>T (p.Thr93Ser) n.215A>T c.634A>T (p.Thr212Ser) c.457A>T (p.Thr153Ser) c.250A>T (p.Thr84Ser) c.229A>T (p.Thr77Ser) c.166A>T (p.Thr56Ser) c.-25A>T (n.-25A>T) c.-281A>T (n.-281A>T) c.472A>T (p.Thr158Ser) | |
| 5 | g.59193514T>C | CA359930497 | PDE4D | c.478A>G (p.Thr160Ala) c.670A>G (p.Thr224Ala) c.340A>G (p.Thr114Ala) c.235A>G (p.Thr79Ala) c.262A>G (p.Thr88Ala) n.333A>G c.304A>G (p.Thr102Ala) c.487A>G (p.Thr163Ala) c.280A>G (p.Thr94Ala) c.-98-154543A>G (n.-98-154543A>G) n.182A>G c.277A>G (p.Thr93Ala) n.215A>G c.634A>G (p.Thr212Ala) c.457A>G (p.Thr153Ala) c.250A>G (p.Thr84Ala) c.229A>G (p.Thr77Ala) c.166A>G (p.Thr56Ala) c.-25A>G (n.-25A>G) c.-281A>G (n.-281A>G) c.472A>G (p.Thr158Ala) | |
| 5 | g.59193514T>G | CA359930498 | PDE4D | c.478A>C (p.Thr160Pro) c.670A>C (p.Thr224Pro) c.340A>C (p.Thr114Pro) c.235A>C (p.Thr79Pro) c.262A>C (p.Thr88Pro) n.333A>C c.304A>C (p.Thr102Pro) c.487A>C (p.Thr163Pro) c.280A>C (p.Thr94Pro) c.-98-154543A>C (n.-98-154543A>C) n.182A>C c.277A>C (p.Thr93Pro) n.215A>C c.634A>C (p.Thr212Pro) c.457A>C (p.Thr153Pro) c.250A>C (p.Thr84Pro) c.229A>C (p.Thr77Pro) c.166A>C (p.Thr56Pro) c.-25A>C (n.-25A>C) c.-281A>C (n.-281A>C) c.472A>C (p.Thr158Pro) | |
| 5 | g.59193515C>A | CA444501194 | PDE4D | c.477G>T (p.Val159=) c.669G>T (p.Val223=) c.339G>T (p.Val113=) c.234G>T (p.Val78=) c.261G>T (p.Val87=) n.332G>T c.303G>T (p.Val101=) c.486G>T (p.Val162=) c.279G>T (p.Val93=) c.-98-154544G>T (n.-98-154544G>T) n.181G>T c.276G>T (p.Val92=) n.214G>T c.633G>T (p.Val211=) c.456G>T (p.Val152=) c.249G>T (p.Val83=) c.228G>T (p.Val76=) c.165G>T (p.Val55=) c.-26G>T (n.-26G>T) c.-282G>T (n.-282G>T) c.471G>T (p.Val157=) | |
| 5 | g.59193515C>G | CA444501195 | PDE4D | c.477G>C (p.Val159=) c.669G>C (p.Val223=) c.339G>C (p.Val113=) c.234G>C (p.Val78=) c.261G>C (p.Val87=) n.332G>C c.303G>C (p.Val101=) c.486G>C (p.Val162=) c.279G>C (p.Val93=) c.-98-154544G>C (n.-98-154544G>C) n.181G>C c.276G>C (p.Val92=) n.214G>C c.633G>C (p.Val211=) c.456G>C (p.Val152=) c.249G>C (p.Val83=) c.228G>C (p.Val76=) c.165G>C (p.Val55=) c.-26G>C (n.-26G>C) c.-282G>C (n.-282G>C) c.471G>C (p.Val157=) | |
| 5 | g.59193515C>T | CA444501196 | PDE4D | c.477G>A (p.Val159=) c.669G>A (p.Val223=) c.339G>A (p.Val113=) c.234G>A (p.Val78=) c.261G>A (p.Val87=) n.332G>A c.303G>A (p.Val101=) c.486G>A (p.Val162=) c.279G>A (p.Val93=) c.-98-154544G>A (n.-98-154544G>A) n.181G>A c.276G>A (p.Val92=) n.214G>A c.633G>A (p.Val211=) c.456G>A (p.Val152=) c.249G>A (p.Val83=) c.228G>A (p.Val76=) c.165G>A (p.Val55=) c.-26G>A (n.-26G>A) c.-282G>A (n.-282G>A) c.471G>A (p.Val157=) | gnomAD v4 |
| 5 | g.59193516A>C | CA359930501 | PDE4D | c.476T>G (p.Val159Gly) c.668T>G (p.Val223Gly) c.338T>G (p.Val113Gly) c.233T>G (p.Val78Gly) c.260T>G (p.Val87Gly) n.331T>G c.302T>G (p.Val101Gly) c.485T>G (p.Val162Gly) c.278T>G (p.Val93Gly) c.-98-154545T>G (n.-98-154545T>G) n.180T>G c.275T>G (p.Val92Gly) n.213T>G c.632T>G (p.Val211Gly) c.455T>G (p.Val152Gly) c.248T>G (p.Val83Gly) c.227T>G (p.Val76Gly) c.164T>G (p.Val55Gly) c.-27T>G (n.-27T>G) c.-283T>G (n.-283T>G) c.470T>G (p.Val157Gly) | |
| 5 | g.59193516A>G | CA359930500 | PDE4D | c.476T>C (p.Val159Ala) c.668T>C (p.Val223Ala) c.338T>C (p.Val113Ala) c.233T>C (p.Val78Ala) c.260T>C (p.Val87Ala) n.331T>C c.302T>C (p.Val101Ala) c.485T>C (p.Val162Ala) c.278T>C (p.Val93Ala) c.-98-154545T>C (n.-98-154545T>C) n.180T>C c.275T>C (p.Val92Ala) n.213T>C c.632T>C (p.Val211Ala) c.455T>C (p.Val152Ala) c.248T>C (p.Val83Ala) c.227T>C (p.Val76Ala) c.164T>C (p.Val55Ala) c.-27T>C (n.-27T>C) c.-283T>C (n.-283T>C) c.470T>C (p.Val157Ala) | |
| 5 | g.59193516A>T | CA359930499 | PDE4D | c.476T>A (p.Val159Glu) c.668T>A (p.Val223Glu) c.338T>A (p.Val113Glu) c.233T>A (p.Val78Glu) c.260T>A (p.Val87Glu) n.331T>A c.302T>A (p.Val101Glu) c.485T>A (p.Val162Glu) c.278T>A (p.Val93Glu) c.-98-154545T>A (n.-98-154545T>A) n.180T>A c.275T>A (p.Val92Glu) n.213T>A c.632T>A (p.Val211Glu) c.455T>A (p.Val152Glu) c.248T>A (p.Val83Glu) c.227T>A (p.Val76Glu) c.164T>A (p.Val55Glu) c.-27T>A (n.-27T>A) c.-283T>A (n.-283T>A) c.470T>A (p.Val157Glu) | |
| 5 | g.59193517C>A | CA359930504 | PDE4D | c.475G>T (p.Val159Leu) c.667G>T (p.Val223Leu) c.337G>T (p.Val113Leu) c.232G>T (p.Val78Leu) c.259G>T (p.Val87Leu) n.330G>T c.301G>T (p.Val101Leu) c.484G>T (p.Val162Leu) c.277G>T (p.Val93Leu) c.-98-154546G>T (n.-98-154546G>T) n.179G>T c.274G>T (p.Val92Leu) n.212G>T c.631G>T (p.Val211Leu) c.454G>T (p.Val152Leu) c.247G>T (p.Val83Leu) c.226G>T (p.Val76Leu) c.163G>T (p.Val55Leu) c.-28G>T (n.-28G>T) c.-284G>T (n.-284G>T) c.469G>T (p.Val157Leu) | gnomAD v4 |
| 5 | g.59193517C>G | CA359930502 | PDE4D | c.475G>C (p.Val159Leu) c.667G>C (p.Val223Leu) c.337G>C (p.Val113Leu) c.232G>C (p.Val78Leu) c.259G>C (p.Val87Leu) n.330G>C c.301G>C (p.Val101Leu) c.484G>C (p.Val162Leu) c.277G>C (p.Val93Leu) c.-98-154546G>C (n.-98-154546G>C) n.179G>C c.274G>C (p.Val92Leu) n.212G>C c.631G>C (p.Val211Leu) c.454G>C (p.Val152Leu) c.247G>C (p.Val83Leu) c.226G>C (p.Val76Leu) c.163G>C (p.Val55Leu) c.-28G>C (n.-28G>C) c.-284G>C (n.-284G>C) c.469G>C (p.Val157Leu) | |
| 5 | g.59193517C>T | CA359930503 | PDE4D | c.475G>A (p.Val159Met) c.667G>A (p.Val223Met) c.337G>A (p.Val113Met) c.232G>A (p.Val78Met) c.259G>A (p.Val87Met) n.330G>A c.301G>A (p.Val101Met) c.484G>A (p.Val162Met) c.277G>A (p.Val93Met) c.-98-154546G>A (n.-98-154546G>A) n.179G>A c.274G>A (p.Val92Met) n.212G>A c.631G>A (p.Val211Met) c.454G>A (p.Val152Met) c.247G>A (p.Val83Met) c.226G>A (p.Val76Met) c.163G>A (p.Val55Met) c.-28G>A (n.-28G>A) c.-284G>A (n.-284G>A) c.469G>A (p.Val157Met) | |
| 5 | g.59193518A>C | CA359930505 | PDE4D | c.474T>G (p.Ile158Met) c.666T>G (p.Ile222Met) c.336T>G (p.Ile112Met) c.231T>G (p.Ile77Met) c.258T>G (p.Ile86Met) n.329T>G c.300T>G (p.Ile100Met) c.483T>G (p.Ile161Met) c.276T>G (p.Ile92Met) c.-98-154547T>G (n.-98-154547T>G) n.178T>G c.273T>G (p.Ile91Met) n.211T>G c.630T>G (p.Ile210Met) c.453T>G (p.Ile151Met) c.246T>G (p.Ile82Met) c.225T>G (p.Ile75Met) c.162T>G (p.Ile54Met) c.-29T>G (n.-29T>G) c.-285T>G (n.-285T>G) c.468T>G (p.Ile156Met) | |
| 5 | g.59193518A>G | CA444501197 | PDE4D | c.474T>C (p.Ile158=) c.666T>C (p.Ile222=) c.336T>C (p.Ile112=) c.231T>C (p.Ile77=) c.258T>C (p.Ile86=) n.329T>C c.300T>C (p.Ile100=) c.483T>C (p.Ile161=) c.276T>C (p.Ile92=) c.-98-154547T>C (n.-98-154547T>C) n.178T>C c.273T>C (p.Ile91=) n.211T>C c.630T>C (p.Ile210=) c.453T>C (p.Ile151=) c.246T>C (p.Ile82=) c.225T>C (p.Ile75=) c.162T>C (p.Ile54=) c.-29T>C (n.-29T>C) c.-285T>C (n.-285T>C) c.468T>C (p.Ile156=) | |
| 5 | g.59193518A>T | CA444501198 | PDE4D | c.474T>A (p.Ile158=) c.666T>A (p.Ile222=) c.336T>A (p.Ile112=) c.231T>A (p.Ile77=) c.258T>A (p.Ile86=) n.329T>A c.300T>A (p.Ile100=) c.483T>A (p.Ile161=) c.276T>A (p.Ile92=) c.-98-154547T>A (n.-98-154547T>A) n.178T>A c.273T>A (p.Ile91=) n.211T>A c.630T>A (p.Ile210=) c.453T>A (p.Ile151=) c.246T>A (p.Ile82=) c.225T>A (p.Ile75=) c.162T>A (p.Ile54=) c.-29T>A (n.-29T>A) c.-285T>A (n.-285T>A) c.468T>A (p.Ile156=) | |
| 5 | g.59193519A>C | CA359930506 | PDE4D | c.473T>G (p.Ile158Ser) c.665T>G (p.Ile222Ser) c.335T>G (p.Ile112Ser) c.230T>G (p.Ile77Ser) c.257T>G (p.Ile86Ser) n.328T>G c.299T>G (p.Ile100Ser) c.482T>G (p.Ile161Ser) c.275T>G (p.Ile92Ser) c.-98-154548T>G (n.-98-154548T>G) n.177T>G c.272T>G (p.Ile91Ser) n.210T>G c.629T>G (p.Ile210Ser) c.452T>G (p.Ile151Ser) c.245T>G (p.Ile82Ser) c.224T>G (p.Ile75Ser) c.161T>G (p.Ile54Ser) c.-30T>G (n.-30T>G) c.-286T>G (n.-286T>G) c.467T>G (p.Ile156Ser) | |
| 5 | g.59193519A>G | CA359930507 | PDE4D | c.473T>C (p.Ile158Thr) c.665T>C (p.Ile222Thr) c.335T>C (p.Ile112Thr) c.230T>C (p.Ile77Thr) c.257T>C (p.Ile86Thr) n.328T>C c.299T>C (p.Ile100Thr) c.482T>C (p.Ile161Thr) c.275T>C (p.Ile92Thr) c.-98-154548T>C (n.-98-154548T>C) n.177T>C c.272T>C (p.Ile91Thr) n.210T>C c.629T>C (p.Ile210Thr) c.452T>C (p.Ile151Thr) c.245T>C (p.Ile82Thr) c.224T>C (p.Ile75Thr) c.161T>C (p.Ile54Thr) c.-30T>C (n.-30T>C) c.-286T>C (n.-286T>C) c.467T>C (p.Ile156Thr) | |
| 5 | g.59193519A>T | CA359930508 | PDE4D | c.473T>A (p.Ile158Asn) c.665T>A (p.Ile222Asn) c.335T>A (p.Ile112Asn) c.230T>A (p.Ile77Asn) c.257T>A (p.Ile86Asn) n.328T>A c.299T>A (p.Ile100Asn) c.482T>A (p.Ile161Asn) c.275T>A (p.Ile92Asn) c.-98-154548T>A (n.-98-154548T>A) n.177T>A c.272T>A (p.Ile91Asn) n.210T>A c.629T>A (p.Ile210Asn) c.452T>A (p.Ile151Asn) c.245T>A (p.Ile82Asn) c.224T>A (p.Ile75Asn) c.161T>A (p.Ile54Asn) c.-30T>A (n.-30T>A) c.-286T>A (n.-286T>A) c.467T>A (p.Ile156Asn) | |
| 5 | g.59193520T>A | CA359930509 | PDE4D | c.472A>T (p.Ile158Phe) c.664A>T (p.Ile222Phe) c.334A>T (p.Ile112Phe) c.229A>T (p.Ile77Phe) c.256A>T (p.Ile86Phe) n.327A>T c.298A>T (p.Ile100Phe) c.481A>T (p.Ile161Phe) c.274A>T (p.Ile92Phe) c.-98-154549A>T (n.-98-154549A>T) n.176A>T c.271A>T (p.Ile91Phe) n.209A>T c.628A>T (p.Ile210Phe) c.451A>T (p.Ile151Phe) c.244A>T (p.Ile82Phe) c.223A>T (p.Ile75Phe) c.160A>T (p.Ile54Phe) c.-31A>T (n.-31A>T) c.-287A>T (n.-287A>T) c.466A>T (p.Ile156Phe) | gnomAD v4 |
| 5 | g.59193520T>C | CA359930510 | PDE4D | c.472A>G (p.Ile158Val) c.664A>G (p.Ile222Val) c.334A>G (p.Ile112Val) c.229A>G (p.Ile77Val) c.256A>G (p.Ile86Val) n.327A>G c.298A>G (p.Ile100Val) c.481A>G (p.Ile161Val) c.274A>G (p.Ile92Val) c.-98-154549A>G (n.-98-154549A>G) n.176A>G c.271A>G (p.Ile91Val) n.209A>G c.628A>G (p.Ile210Val) c.451A>G (p.Ile151Val) c.244A>G (p.Ile82Val) c.223A>G (p.Ile75Val) c.160A>G (p.Ile54Val) c.-31A>G (n.-31A>G) c.-287A>G (n.-287A>G) c.466A>G (p.Ile156Val) | |
| 5 | g.59193520T>G | CA359930511 | PDE4D | c.472A>C (p.Ile158Leu) c.664A>C (p.Ile222Leu) c.334A>C (p.Ile112Leu) c.229A>C (p.Ile77Leu) c.256A>C (p.Ile86Leu) n.327A>C c.298A>C (p.Ile100Leu) c.481A>C (p.Ile161Leu) c.274A>C (p.Ile92Leu) c.-98-154549A>C (n.-98-154549A>C) n.176A>C c.271A>C (p.Ile91Leu) n.209A>C c.628A>C (p.Ile210Leu) c.451A>C (p.Ile151Leu) c.244A>C (p.Ile82Leu) c.223A>C (p.Ile75Leu) c.160A>C (p.Ile54Leu) c.-31A>C (n.-31A>C) c.-287A>C (n.-287A>C) c.466A>C (p.Ile156Leu) | |
| 5 | g.59193521C>A | CA359930512 | PDE4D | c.471G>T (p.Leu157Phe) c.663G>T (p.Leu221Phe) c.333G>T (p.Leu111Phe) c.228G>T (p.Leu76Phe) c.255G>T (p.Leu85Phe) n.326G>T c.297G>T (p.Leu99Phe) c.480G>T (p.Leu160Phe) c.273G>T (p.Leu91Phe) c.-98-154550G>T (n.-98-154550G>T) n.175G>T c.270G>T (p.Leu90Phe) n.208G>T c.627G>T (p.Leu209Phe) c.450G>T (p.Leu150Phe) c.243G>T (p.Leu81Phe) c.222G>T (p.Leu74Phe) c.159G>T (p.Leu53Phe) c.-32G>T (n.-32G>T) c.-288G>T (n.-288G>T) c.465G>T (p.Leu155Phe) | |
| 5 | g.59193521C= | CA1549218567 | PDE4D | c.471G= (p.Leu157=) c.663G= (p.Leu221=) c.333G= (p.Leu111=) c.228G= (p.Leu76=) c.255G= (p.Leu85=) n.326G= c.297G= (p.Leu99=) c.480G= (p.Leu160=) c.273G= (p.Leu91=) c.-98-154550G= (n.-98-154550G=) n.175G= c.270G= (p.Leu90=) n.208G= c.627G= (p.Leu209=) c.450G= (p.Leu150=) c.243G= (p.Leu81=) c.222G= (p.Leu74=) c.159G= (p.Leu53=) c.-32G= (n.-32G=) c.-288G= (n.-288G=) c.465G= (p.Leu155=) | |
| 5 | g.59193521C>G | CA359930513 | PDE4D | c.471G>C (p.Leu157Phe) c.663G>C (p.Leu221Phe) c.333G>C (p.Leu111Phe) c.228G>C (p.Leu76Phe) c.255G>C (p.Leu85Phe) n.326G>C c.297G>C (p.Leu99Phe) c.480G>C (p.Leu160Phe) c.273G>C (p.Leu91Phe) c.-98-154550G>C (n.-98-154550G>C) n.175G>C c.270G>C (p.Leu90Phe) n.208G>C c.627G>C (p.Leu209Phe) c.450G>C (p.Leu150Phe) c.243G>C (p.Leu81Phe) c.222G>C (p.Leu74Phe) c.159G>C (p.Leu53Phe) c.-32G>C (n.-32G>C) c.-288G>C (n.-288G>C) c.465G>C (p.Leu155Phe) | |
| 5 | g.59193521C>T | CA444501199 | PDE4D | c.471G>A (p.Leu157=) c.663G>A (p.Leu221=) c.333G>A (p.Leu111=) c.228G>A (p.Leu76=) c.255G>A (p.Leu85=) n.326G>A c.297G>A (p.Leu99=) c.480G>A (p.Leu160=) c.273G>A (p.Leu91=) c.-98-154550G>A (n.-98-154550G>A) n.175G>A c.270G>A (p.Leu90=) n.208G>A c.627G>A (p.Leu209=) c.450G>A (p.Leu150=) c.243G>A (p.Leu81=) c.222G>A (p.Leu74=) c.159G>A (p.Leu53=) c.-32G>A (n.-32G>A) c.-288G>A (n.-288G>A) c.465G>A (p.Leu155=) | dbSNP gnomAD v4 |
| 5 | g.59193522A= | CA1549218568 | PDE4D | c.470T= (p.Leu157=) c.662T= (p.Leu221=) c.332T= (p.Leu111=) c.227T= (p.Leu76=) c.254T= (p.Leu85=) n.325T= c.296T= (p.Leu99=) c.479T= (p.Leu160=) c.272T= (p.Leu91=) c.-98-154551T= (n.-98-154551T=) n.174T= c.269T= (p.Leu90=) n.207T= c.626T= (p.Leu209=) c.449T= (p.Leu150=) c.242T= (p.Leu81=) c.221T= (p.Leu74=) c.158T= (p.Leu53=) c.-33T= (n.-33T=) c.-289T= (n.-289T=) c.464T= (p.Leu155=) | |
| 5 | g.59193522A>C | CA359930514 | PDE4D | c.470T>G (p.Leu157Trp) c.662T>G (p.Leu221Trp) c.332T>G (p.Leu111Trp) c.227T>G (p.Leu76Trp) c.254T>G (p.Leu85Trp) n.325T>G c.296T>G (p.Leu99Trp) c.479T>G (p.Leu160Trp) c.272T>G (p.Leu91Trp) c.-98-154551T>G (n.-98-154551T>G) n.174T>G c.269T>G (p.Leu90Trp) n.207T>G c.626T>G (p.Leu209Trp) c.449T>G (p.Leu150Trp) c.242T>G (p.Leu81Trp) c.221T>G (p.Leu74Trp) c.158T>G (p.Leu53Trp) c.-33T>G (n.-33T>G) c.-289T>G (n.-289T>G) c.464T>G (p.Leu155Trp) |