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.59215856A= | CA1549229332 | PDE4D | c.376T= (p.Ser126=) c.568T= (p.Ser190=) c.238T= (p.Ser80=) c.133T= (p.Ser45=) c.160T= (p.Ser54=) n.231T= c.202T= (p.Ser68=) c.385T= (p.Ser129=) c.178T= (p.Ser60=) c.-98-176885T= (n.-98-176885T=) n.331T= n.80T= c.175T= (p.Ser59=) n.113T= c.532T= (p.Ser178=) c.355T= (p.Ser119=) c.148T= (p.Ser50=) c.127T= (p.Ser43=) c.64T= (p.Ser22=) c.-127T= (n.-127T=) c.-383T= (n.-383T=) c.370T= (p.Ser124=) | |
| 5 | g.59215856A>C | CA128850 | PDE4D | c.376T>G (p.Ser126Ala) c.568T>G (p.Ser190Ala) c.238T>G (p.Ser80Ala) c.133T>G (p.Ser45Ala) c.160T>G (p.Ser54Ala) n.231T>G c.202T>G (p.Ser68Ala) c.385T>G (p.Ser129Ala) c.178T>G (p.Ser60Ala) c.-98-176885T>G (n.-98-176885T>G) n.331T>G n.80T>G c.175T>G (p.Ser59Ala) n.113T>G c.532T>G (p.Ser178Ala) c.355T>G (p.Ser119Ala) c.148T>G (p.Ser50Ala) c.127T>G (p.Ser43Ala) c.64T>G (p.Ser22Ala) c.-127T>G (n.-127T>G) c.-383T>G (n.-383T>G) c.370T>G (p.Ser124Ala) | ClinVar dbSNP |
| 5 | g.59215856A>G | CA359930891 | PDE4D | c.376T>C (p.Ser126Pro) c.568T>C (p.Ser190Pro) c.238T>C (p.Ser80Pro) c.133T>C (p.Ser45Pro) c.160T>C (p.Ser54Pro) n.231T>C c.202T>C (p.Ser68Pro) c.385T>C (p.Ser129Pro) c.178T>C (p.Ser60Pro) c.-98-176885T>C (n.-98-176885T>C) n.331T>C n.80T>C c.175T>C (p.Ser59Pro) n.113T>C c.532T>C (p.Ser178Pro) c.355T>C (p.Ser119Pro) c.148T>C (p.Ser50Pro) c.127T>C (p.Ser43Pro) c.64T>C (p.Ser22Pro) c.-127T>C (n.-127T>C) c.-383T>C (n.-383T>C) c.370T>C (p.Ser124Pro) | |
| 5 | g.59215856A>T | CA359930892 | PDE4D | c.376T>A (p.Ser126Thr) c.568T>A (p.Ser190Thr) c.238T>A (p.Ser80Thr) c.133T>A (p.Ser45Thr) c.160T>A (p.Ser54Thr) n.231T>A c.202T>A (p.Ser68Thr) c.385T>A (p.Ser129Thr) c.178T>A (p.Ser60Thr) c.-98-176885T>A (n.-98-176885T>A) n.331T>A n.80T>A c.175T>A (p.Ser59Thr) n.113T>A c.532T>A (p.Ser178Thr) c.355T>A (p.Ser119Thr) c.148T>A (p.Ser50Thr) c.127T>A (p.Ser43Thr) c.64T>A (p.Ser22Thr) c.-127T>A (n.-127T>A) c.-383T>A (n.-383T>A) c.370T>A (p.Ser124Thr) | |
| 5 | g.59215857C>A | CA359930893 | PDE4D | c.375G>T (p.Glu125Asp) c.567G>T (p.Glu189Asp) c.237G>T (p.Glu79Asp) c.132G>T (p.Glu44Asp) c.159G>T (p.Glu53Asp) n.230G>T c.201G>T (p.Glu67Asp) c.384G>T (p.Glu128Asp) c.177G>T (p.Glu59Asp) c.-98-176886G>T (n.-98-176886G>T) n.330G>T n.79G>T c.174G>T (p.Glu58Asp) n.112G>T c.531G>T (p.Glu177Asp) c.354G>T (p.Glu118Asp) c.147G>T (p.Glu49Asp) c.126G>T (p.Glu42Asp) c.63G>T (p.Glu21Asp) c.-128G>T (n.-128G>T) c.-384G>T (n.-384G>T) c.369G>T (p.Glu123Asp) | gnomAD v4 |
| 5 | g.59215857C>G | CA359930894 | PDE4D | c.375G>C (p.Glu125Asp) c.567G>C (p.Glu189Asp) c.237G>C (p.Glu79Asp) c.132G>C (p.Glu44Asp) c.159G>C (p.Glu53Asp) n.230G>C c.201G>C (p.Glu67Asp) c.384G>C (p.Glu128Asp) c.177G>C (p.Glu59Asp) c.-98-176886G>C (n.-98-176886G>C) n.330G>C n.79G>C c.174G>C (p.Glu58Asp) n.112G>C c.531G>C (p.Glu177Asp) c.354G>C (p.Glu118Asp) c.147G>C (p.Glu49Asp) c.126G>C (p.Glu42Asp) c.63G>C (p.Glu21Asp) c.-128G>C (n.-128G>C) c.-384G>C (n.-384G>C) c.369G>C (p.Glu123Asp) | |
| 5 | g.59215857C>T | CA444501342 | PDE4D | c.375G>A (p.Glu125=) c.567G>A (p.Glu189=) c.237G>A (p.Glu79=) c.132G>A (p.Glu44=) c.159G>A (p.Glu53=) n.230G>A c.201G>A (p.Glu67=) c.384G>A (p.Glu128=) c.177G>A (p.Glu59=) c.-98-176886G>A (n.-98-176886G>A) n.330G>A n.79G>A c.174G>A (p.Glu58=) n.112G>A c.531G>A (p.Glu177=) c.354G>A (p.Glu118=) c.147G>A (p.Glu49=) c.126G>A (p.Glu42=) c.63G>A (p.Glu21=) c.-128G>A (n.-128G>A) c.-384G>A (n.-384G>A) c.369G>A (p.Glu123=) | gnomAD v4 |
| 5 | g.59215858T>A | CA359930895 | PDE4D | c.374A>T (p.Glu125Val) c.566A>T (p.Glu189Val) c.236A>T (p.Glu79Val) c.131A>T (p.Glu44Val) c.158A>T (p.Glu53Val) n.229A>T c.200A>T (p.Glu67Val) c.383A>T (p.Glu128Val) c.176A>T (p.Glu59Val) c.-98-176887A>T (n.-98-176887A>T) n.329A>T n.78A>T c.173A>T (p.Glu58Val) n.111A>T c.530A>T (p.Glu177Val) c.353A>T (p.Glu118Val) c.146A>T (p.Glu49Val) c.125A>T (p.Glu42Val) c.62A>T (p.Glu21Val) c.-129A>T (n.-129A>T) c.-385A>T (n.-385A>T) c.368A>T (p.Glu123Val) | |
| 5 | g.59215858T>C | CA359930896 | PDE4D | c.374A>G (p.Glu125Gly) c.566A>G (p.Glu189Gly) c.236A>G (p.Glu79Gly) c.131A>G (p.Glu44Gly) c.158A>G (p.Glu53Gly) n.229A>G c.200A>G (p.Glu67Gly) c.383A>G (p.Glu128Gly) c.176A>G (p.Glu59Gly) c.-98-176887A>G (n.-98-176887A>G) n.329A>G n.78A>G c.173A>G (p.Glu58Gly) n.111A>G c.530A>G (p.Glu177Gly) c.353A>G (p.Glu118Gly) c.146A>G (p.Glu49Gly) c.125A>G (p.Glu42Gly) c.62A>G (p.Glu21Gly) c.-129A>G (n.-129A>G) c.-385A>G (n.-385A>G) c.368A>G (p.Glu123Gly) | |
| 5 | g.59215858T>G | CA359930897 | PDE4D | c.374A>C (p.Glu125Ala) c.566A>C (p.Glu189Ala) c.236A>C (p.Glu79Ala) c.131A>C (p.Glu44Ala) c.158A>C (p.Glu53Ala) n.229A>C c.200A>C (p.Glu67Ala) c.383A>C (p.Glu128Ala) c.176A>C (p.Glu59Ala) c.-98-176887A>C (n.-98-176887A>C) n.329A>C n.78A>C c.173A>C (p.Glu58Ala) n.111A>C c.530A>C (p.Glu177Ala) c.353A>C (p.Glu118Ala) c.146A>C (p.Glu49Ala) c.125A>C (p.Glu42Ala) c.62A>C (p.Glu21Ala) c.-129A>C (n.-129A>C) c.-385A>C (n.-385A>C) c.368A>C (p.Glu123Ala) | |
| 5 | g.59215859C>A | CA359930900 | PDE4D | c.373G>T (p.Glu125Ter) c.565G>T (p.Glu189Ter) c.235G>T (p.Glu79Ter) c.130G>T (p.Glu44Ter) c.157G>T (p.Glu53Ter) n.228G>T c.199G>T (p.Glu67Ter) c.382G>T (p.Glu128Ter) c.175G>T (p.Glu59Ter) c.-98-176888G>T (n.-98-176888G>T) n.328G>T n.77G>T c.172G>T (p.Glu58Ter) n.110G>T c.529G>T (p.Glu177Ter) c.352G>T (p.Glu118Ter) c.145G>T (p.Glu49Ter) c.124G>T (p.Glu42Ter) c.61G>T (p.Glu21Ter) c.-130G>T (n.-130G>T) c.-386G>T (n.-386G>T) c.367G>T (p.Glu123Ter) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 5 | g.59215859C>G | CA359930898 | PDE4D | c.373G>C (p.Glu125Gln) c.565G>C (p.Glu189Gln) c.235G>C (p.Glu79Gln) c.130G>C (p.Glu44Gln) c.157G>C (p.Glu53Gln) n.228G>C c.199G>C (p.Glu67Gln) c.382G>C (p.Glu128Gln) c.175G>C (p.Glu59Gln) c.-98-176888G>C (n.-98-176888G>C) n.328G>C n.77G>C c.172G>C (p.Glu58Gln) n.110G>C c.529G>C (p.Glu177Gln) c.352G>C (p.Glu118Gln) c.145G>C (p.Glu49Gln) c.124G>C (p.Glu42Gln) c.61G>C (p.Glu21Gln) c.-130G>C (n.-130G>C) c.-386G>C (n.-386G>C) c.367G>C (p.Glu123Gln) | |
| 5 | g.59215859C>T | CA359930899 | PDE4D | c.373G>A (p.Glu125Lys) c.565G>A (p.Glu189Lys) c.235G>A (p.Glu79Lys) c.130G>A (p.Glu44Lys) c.157G>A (p.Glu53Lys) n.228G>A c.199G>A (p.Glu67Lys) c.382G>A (p.Glu128Lys) c.175G>A (p.Glu59Lys) c.-98-176888G>A (n.-98-176888G>A) n.328G>A n.77G>A c.172G>A (p.Glu58Lys) n.110G>A c.529G>A (p.Glu177Lys) c.352G>A (p.Glu118Lys) c.145G>A (p.Glu49Lys) c.124G>A (p.Glu42Lys) c.61G>A (p.Glu21Lys) c.-130G>A (n.-130G>A) c.-386G>A (n.-386G>A) c.367G>A (p.Glu123Lys) | |
| 5 | g.59215860C>A | CA444501344 | PDE4D | c.372G>T (p.Arg124=) c.564G>T (p.Arg188=) c.234G>T (p.Arg78=) c.129G>T (p.Arg43=) c.156G>T (p.Arg52=) n.227G>T c.198G>T (p.Arg66=) c.381G>T (p.Arg127=) c.174G>T (p.Arg58=) c.-98-176889G>T (n.-98-176889G>T) n.327G>T n.76G>T c.171G>T (p.Arg57=) n.109G>T c.528G>T (p.Arg176=) c.351G>T (p.Arg117=) c.144G>T (p.Arg48=) c.123G>T (p.Arg41=) c.60G>T (p.Arg20=) c.-131G>T (n.-131G>T) c.-387G>T (n.-387G>T) c.366G>T (p.Arg122=) | |
| 5 | g.59215860C= | CA1549229333 | PDE4D | c.372G= (p.Arg124=) c.564G= (p.Arg188=) c.234G= (p.Arg78=) c.129G= (p.Arg43=) c.156G= (p.Arg52=) n.227G= c.198G= (p.Arg66=) c.381G= (p.Arg127=) c.174G= (p.Arg58=) c.-98-176889G= (n.-98-176889G=) n.327G= n.76G= c.171G= (p.Arg57=) n.109G= c.528G= (p.Arg176=) c.351G= (p.Arg117=) c.144G= (p.Arg48=) c.123G= (p.Arg41=) c.60G= (p.Arg20=) c.-131G= (n.-131G=) c.-387G= (n.-387G=) c.366G= (p.Arg122=) | |
| 5 | g.59215860C>G | CA444501345 | PDE4D | c.372G>C (p.Arg124=) c.564G>C (p.Arg188=) c.234G>C (p.Arg78=) c.129G>C (p.Arg43=) c.156G>C (p.Arg52=) n.227G>C c.198G>C (p.Arg66=) c.381G>C (p.Arg127=) c.174G>C (p.Arg58=) c.-98-176889G>C (n.-98-176889G>C) n.327G>C n.76G>C c.171G>C (p.Arg57=) n.109G>C c.528G>C (p.Arg176=) c.351G>C (p.Arg117=) c.144G>C (p.Arg48=) c.123G>C (p.Arg41=) c.60G>C (p.Arg20=) c.-131G>C (n.-131G>C) c.-387G>C (n.-387G>C) c.366G>C (p.Arg122=) | |
| 5 | g.59215860C>T | CA444501346 | PDE4D | c.372G>A (p.Arg124=) c.564G>A (p.Arg188=) c.234G>A (p.Arg78=) c.129G>A (p.Arg43=) c.156G>A (p.Arg52=) n.227G>A c.198G>A (p.Arg66=) c.381G>A (p.Arg127=) c.174G>A (p.Arg58=) c.-98-176889G>A (n.-98-176889G>A) n.327G>A n.76G>A c.171G>A (p.Arg57=) n.109G>A c.528G>A (p.Arg176=) c.351G>A (p.Arg117=) c.144G>A (p.Arg48=) c.123G>A (p.Arg41=) c.60G>A (p.Arg20=) c.-131G>A (n.-131G>A) c.-387G>A (n.-387G>A) c.366G>A (p.Arg122=) | dbSNP gnomAD v4 |
| 5 | g.59215861C>A | CA359930901 | PDE4D | c.371G>T (p.Arg124Leu) c.563G>T (p.Arg188Leu) c.233G>T (p.Arg78Leu) c.128G>T (p.Arg43Leu) c.155G>T (p.Arg52Leu) n.226G>T c.197G>T (p.Arg66Leu) c.380G>T (p.Arg127Leu) c.173G>T (p.Arg58Leu) c.-98-176890G>T (n.-98-176890G>T) n.326G>T n.75G>T c.170G>T (p.Arg57Leu) n.108G>T c.527G>T (p.Arg176Leu) c.350G>T (p.Arg117Leu) c.143G>T (p.Arg48Leu) c.122G>T (p.Arg41Leu) c.59G>T (p.Arg20Leu) c.-132G>T (n.-132G>T) c.-388G>T (n.-388G>T) c.365G>T (p.Arg122Leu) | |
| 5 | g.59215861C>G | CA359930902 | PDE4D | c.371G>C (p.Arg124Pro) c.563G>C (p.Arg188Pro) c.233G>C (p.Arg78Pro) c.128G>C (p.Arg43Pro) c.155G>C (p.Arg52Pro) n.226G>C c.197G>C (p.Arg66Pro) c.380G>C (p.Arg127Pro) c.173G>C (p.Arg58Pro) c.-98-176890G>C (n.-98-176890G>C) n.326G>C n.75G>C c.170G>C (p.Arg57Pro) n.108G>C c.527G>C (p.Arg176Pro) c.350G>C (p.Arg117Pro) c.143G>C (p.Arg48Pro) c.122G>C (p.Arg41Pro) c.59G>C (p.Arg20Pro) c.-132G>C (n.-132G>C) c.-388G>C (n.-388G>C) c.365G>C (p.Arg122Pro) | |
| 5 | g.59215861C>T | CA359930903 | PDE4D | c.371G>A (p.Arg124Gln) c.563G>A (p.Arg188Gln) c.233G>A (p.Arg78Gln) c.128G>A (p.Arg43Gln) c.155G>A (p.Arg52Gln) n.226G>A c.197G>A (p.Arg66Gln) c.380G>A (p.Arg127Gln) c.173G>A (p.Arg58Gln) c.-98-176890G>A (n.-98-176890G>A) n.326G>A n.75G>A c.170G>A (p.Arg57Gln) n.108G>A c.527G>A (p.Arg176Gln) c.350G>A (p.Arg117Gln) c.143G>A (p.Arg48Gln) c.122G>A (p.Arg41Gln) c.59G>A (p.Arg20Gln) c.-132G>A (n.-132G>A) c.-388G>A (n.-388G>A) c.365G>A (p.Arg122Gln) | |
| 5 | g.59215862G>A | CA359930904 | PDE4D | c.370C>T (p.Arg124Trp) c.562C>T (p.Arg188Trp) c.232C>T (p.Arg78Trp) c.127C>T (p.Arg43Trp) c.154C>T (p.Arg52Trp) n.225C>T c.196C>T (p.Arg66Trp) c.379C>T (p.Arg127Trp) c.172C>T (p.Arg58Trp) c.-98-176891C>T (n.-98-176891C>T) n.325C>T n.74C>T c.169C>T (p.Arg57Trp) n.107C>T c.526C>T (p.Arg176Trp) c.349C>T (p.Arg117Trp) c.142C>T (p.Arg48Trp) c.121C>T (p.Arg41Trp) c.58C>T (p.Arg20Trp) c.-133C>T (n.-133C>T) c.-389C>T (n.-389C>T) c.364C>T (p.Arg122Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.59215862G>C | CA359930905 | PDE4D | c.370C>G (p.Arg124Gly) c.562C>G (p.Arg188Gly) c.232C>G (p.Arg78Gly) c.127C>G (p.Arg43Gly) c.154C>G (p.Arg52Gly) n.225C>G c.196C>G (p.Arg66Gly) c.379C>G (p.Arg127Gly) c.172C>G (p.Arg58Gly) c.-98-176891C>G (n.-98-176891C>G) n.325C>G n.74C>G c.169C>G (p.Arg57Gly) n.107C>G c.526C>G (p.Arg176Gly) c.349C>G (p.Arg117Gly) c.142C>G (p.Arg48Gly) c.121C>G (p.Arg41Gly) c.58C>G (p.Arg20Gly) c.-133C>G (n.-133C>G) c.-389C>G (n.-389C>G) c.364C>G (p.Arg122Gly) | |
| 5 | g.59215862G= | CA1549229334 | PDE4D | c.370C= (p.Arg124=) c.562C= (p.Arg188=) c.232C= (p.Arg78=) c.127C= (p.Arg43=) c.154C= (p.Arg52=) n.225C= c.196C= (p.Arg66=) c.379C= (p.Arg127=) c.172C= (p.Arg58=) c.-98-176891C= (n.-98-176891C=) n.325C= n.74C= c.169C= (p.Arg57=) n.107C= c.526C= (p.Arg176=) c.349C= (p.Arg117=) c.142C= (p.Arg48=) c.121C= (p.Arg41=) c.58C= (p.Arg20=) c.-133C= (n.-133C=) c.-389C= (n.-389C=) c.364C= (p.Arg122=) | |
| 5 | g.59215862G>T | CA444501348 | PDE4D | c.370C>A (p.Arg124=) c.562C>A (p.Arg188=) c.232C>A (p.Arg78=) c.127C>A (p.Arg43=) c.154C>A (p.Arg52=) n.225C>A c.196C>A (p.Arg66=) c.379C>A (p.Arg127=) c.172C>A (p.Arg58=) c.-98-176891C>A (n.-98-176891C>A) n.325C>A n.74C>A c.169C>A (p.Arg57=) n.107C>A c.526C>A (p.Arg176=) c.349C>A (p.Arg117=) c.142C>A (p.Arg48=) c.121C>A (p.Arg41=) c.58C>A (p.Arg20=) c.-133C>A (n.-133C>A) c.-389C>A (n.-389C>A) c.364C>A (p.Arg122=) | gnomAD v4 |
| 5 | g.59215863T>A | CA444501349 | PDE4D | c.369A>T (p.Arg123=) c.561A>T (p.Arg187=) c.231A>T (p.Arg77=) c.126A>T (p.Arg42=) c.153A>T (p.Arg51=) n.224A>T c.195A>T (p.Arg65=) c.378A>T (p.Arg126=) c.171A>T (p.Arg57=) c.-98-176892A>T (n.-98-176892A>T) n.324A>T n.73A>T c.168A>T (p.Arg56=) n.106A>T c.525A>T (p.Arg175=) c.348A>T (p.Arg116=) c.141A>T (p.Arg47=) c.120A>T (p.Arg40=) c.57A>T (p.Arg19=) c.-134A>T (n.-134A>T) c.-390A>T (n.-390A>T) c.363A>T (p.Arg121=) | |
| 5 | g.59215863T>C | CA444501351 | PDE4D | c.369A>G (p.Arg123=) c.561A>G (p.Arg187=) c.231A>G (p.Arg77=) c.126A>G (p.Arg42=) c.153A>G (p.Arg51=) n.224A>G c.195A>G (p.Arg65=) c.378A>G (p.Arg126=) c.171A>G (p.Arg57=) c.-98-176892A>G (n.-98-176892A>G) n.324A>G n.73A>G c.168A>G (p.Arg56=) n.106A>G c.525A>G (p.Arg175=) c.348A>G (p.Arg116=) c.141A>G (p.Arg47=) c.120A>G (p.Arg40=) c.57A>G (p.Arg19=) c.-134A>G (n.-134A>G) c.-390A>G (n.-390A>G) c.363A>G (p.Arg121=) | gnomAD v4 |
| 5 | g.59215863T>G | CA444501352 | PDE4D | c.369A>C (p.Arg123=) c.561A>C (p.Arg187=) c.231A>C (p.Arg77=) c.126A>C (p.Arg42=) c.153A>C (p.Arg51=) n.224A>C c.195A>C (p.Arg65=) c.378A>C (p.Arg126=) c.171A>C (p.Arg57=) c.-98-176892A>C (n.-98-176892A>C) n.324A>C n.73A>C c.168A>C (p.Arg56=) n.106A>C c.525A>C (p.Arg175=) c.348A>C (p.Arg116=) c.141A>C (p.Arg47=) c.120A>C (p.Arg40=) c.57A>C (p.Arg19=) c.-134A>C (n.-134A>C) c.-390A>C (n.-390A>C) c.363A>C (p.Arg121=) | |
| 5 | g.59215864C>A | CA359930906 | PDE4D | c.368G>T (p.Arg123Leu) c.560G>T (p.Arg187Leu) c.230G>T (p.Arg77Leu) c.125G>T (p.Arg42Leu) c.152G>T (p.Arg51Leu) n.223G>T c.194G>T (p.Arg65Leu) c.377G>T (p.Arg126Leu) c.170G>T (p.Arg57Leu) c.-98-176893G>T (n.-98-176893G>T) n.323G>T n.72G>T c.167G>T (p.Arg56Leu) n.105G>T c.524G>T (p.Arg175Leu) c.347G>T (p.Arg116Leu) c.140G>T (p.Arg47Leu) c.119G>T (p.Arg40Leu) c.56G>T (p.Arg19Leu) c.-135G>T (n.-135G>T) c.-391G>T (n.-391G>T) c.362G>T (p.Arg121Leu) | |
| 5 | g.59215864C= | CA1549229335 | PDE4D | c.368G= (p.Arg123=) c.560G= (p.Arg187=) c.230G= (p.Arg77=) c.125G= (p.Arg42=) c.152G= (p.Arg51=) n.223G= c.194G= (p.Arg65=) c.377G= (p.Arg126=) c.170G= (p.Arg57=) c.-98-176893G= (n.-98-176893G=) n.323G= n.72G= c.167G= (p.Arg56=) n.105G= c.524G= (p.Arg175=) c.347G= (p.Arg116=) c.140G= (p.Arg47=) c.119G= (p.Arg40=) c.56G= (p.Arg19=) c.-135G= (n.-135G=) c.-391G= (n.-391G=) c.362G= (p.Arg121=) | |
| 5 | g.59215864C>G | CA359930907 | PDE4D | c.368G>C (p.Arg123Pro) c.560G>C (p.Arg187Pro) c.230G>C (p.Arg77Pro) c.125G>C (p.Arg42Pro) c.152G>C (p.Arg51Pro) n.223G>C c.194G>C (p.Arg65Pro) c.377G>C (p.Arg126Pro) c.170G>C (p.Arg57Pro) c.-98-176893G>C (n.-98-176893G>C) n.323G>C n.72G>C c.167G>C (p.Arg56Pro) n.105G>C c.524G>C (p.Arg175Pro) c.347G>C (p.Arg116Pro) c.140G>C (p.Arg47Pro) c.119G>C (p.Arg40Pro) c.56G>C (p.Arg19Pro) c.-135G>C (n.-135G>C) c.-391G>C (n.-391G>C) c.362G>C (p.Arg121Pro) | |
| 5 | g.59215864C>T | CA119158605 | PDE4D | c.368G>A (p.Arg123Gln) c.560G>A (p.Arg187Gln) c.230G>A (p.Arg77Gln) c.125G>A (p.Arg42Gln) c.152G>A (p.Arg51Gln) n.223G>A c.194G>A (p.Arg65Gln) c.377G>A (p.Arg126Gln) c.170G>A (p.Arg57Gln) c.-98-176893G>A (n.-98-176893G>A) n.323G>A n.72G>A c.167G>A (p.Arg56Gln) n.105G>A c.524G>A (p.Arg175Gln) c.347G>A (p.Arg116Gln) c.140G>A (p.Arg47Gln) c.119G>A (p.Arg40Gln) c.56G>A (p.Arg19Gln) c.-135G>A (n.-135G>A) c.-391G>A (n.-391G>A) c.362G>A (p.Arg121Gln) | dbSNP gnomAD v4 |
| 5 | g.59215865G>A | CA359930908 | PDE4D | c.367C>T (p.Arg123Ter) c.559C>T (p.Arg187Ter) c.229C>T (p.Arg77Ter) c.124C>T (p.Arg42Ter) c.151C>T (p.Arg51Ter) n.222C>T c.193C>T (p.Arg65Ter) c.376C>T (p.Arg126Ter) c.169C>T (p.Arg57Ter) c.-98-176894C>T (n.-98-176894C>T) n.322C>T n.71C>T c.166C>T (p.Arg56Ter) n.104C>T c.523C>T (p.Arg175Ter) c.346C>T (p.Arg116Ter) c.139C>T (p.Arg47Ter) c.118C>T (p.Arg40Ter) c.55C>T (p.Arg19Ter) c.-136C>T (n.-136C>T) c.-392C>T (n.-392C>T) c.361C>T (p.Arg121Ter) | gnomAD v4 |
| 5 | g.59215865G>C | CA359930909 | PDE4D | c.367C>G (p.Arg123Gly) c.559C>G (p.Arg187Gly) c.229C>G (p.Arg77Gly) c.124C>G (p.Arg42Gly) c.151C>G (p.Arg51Gly) n.222C>G c.193C>G (p.Arg65Gly) c.376C>G (p.Arg126Gly) c.169C>G (p.Arg57Gly) c.-98-176894C>G (n.-98-176894C>G) n.322C>G n.71C>G c.166C>G (p.Arg56Gly) n.104C>G c.523C>G (p.Arg175Gly) c.346C>G (p.Arg116Gly) c.139C>G (p.Arg47Gly) c.118C>G (p.Arg40Gly) c.55C>G (p.Arg19Gly) c.-136C>G (n.-136C>G) c.-392C>G (n.-392C>G) c.361C>G (p.Arg121Gly) | |
| 5 | g.59215865G>T | CA444501353 | PDE4D | c.367C>A (p.Arg123=) c.559C>A (p.Arg187=) c.229C>A (p.Arg77=) c.124C>A (p.Arg42=) c.151C>A (p.Arg51=) n.222C>A c.193C>A (p.Arg65=) c.376C>A (p.Arg126=) c.169C>A (p.Arg57=) c.-98-176894C>A (n.-98-176894C>A) n.322C>A n.71C>A c.166C>A (p.Arg56=) n.104C>A c.523C>A (p.Arg175=) c.346C>A (p.Arg116=) c.139C>A (p.Arg47=) c.118C>A (p.Arg40=) c.55C>A (p.Arg19=) c.-136C>A (n.-136C>A) c.-392C>A (n.-392C>A) c.361C>A (p.Arg121=) | |
| 5 | g.59215866T>A | CA359930910 | PDE4D | c.366A>T (p.Gln122His) c.558A>T (p.Gln186His) c.228A>T (p.Gln76His) c.123A>T (p.Gln41His) c.150A>T (p.Gln50His) n.221A>T c.192A>T (p.Gln64His) c.375A>T (p.Gln125His) c.168A>T (p.Gln56His) c.-98-176895A>T (n.-98-176895A>T) n.321A>T n.70A>T c.165A>T (p.Gln55His) n.103A>T c.522A>T (p.Gln174His) c.345A>T (p.Gln115His) c.138A>T (p.Gln46His) c.117A>T (p.Gln39His) c.54A>T (p.Gln18His) c.-137A>T (n.-137A>T) c.-393A>T (n.-393A>T) c.360A>T (p.Gln120His) | |
| 5 | g.59215866T>C | CA444501354 | PDE4D | c.366A>G (p.Gln122=) c.558A>G (p.Gln186=) c.228A>G (p.Gln76=) c.123A>G (p.Gln41=) c.150A>G (p.Gln50=) n.221A>G c.192A>G (p.Gln64=) c.375A>G (p.Gln125=) c.168A>G (p.Gln56=) c.-98-176895A>G (n.-98-176895A>G) n.321A>G n.70A>G c.165A>G (p.Gln55=) n.103A>G c.522A>G (p.Gln174=) c.345A>G (p.Gln115=) c.138A>G (p.Gln46=) c.117A>G (p.Gln39=) c.54A>G (p.Gln18=) c.-137A>G (n.-137A>G) c.-393A>G (n.-393A>G) c.360A>G (p.Gln120=) | |
| 5 | g.59215866T>G | CA359930911 | PDE4D | c.366A>C (p.Gln122His) c.558A>C (p.Gln186His) c.228A>C (p.Gln76His) c.123A>C (p.Gln41His) c.150A>C (p.Gln50His) n.221A>C c.192A>C (p.Gln64His) c.375A>C (p.Gln125His) c.168A>C (p.Gln56His) c.-98-176895A>C (n.-98-176895A>C) n.321A>C n.70A>C c.165A>C (p.Gln55His) n.103A>C c.522A>C (p.Gln174His) c.345A>C (p.Gln115His) c.138A>C (p.Gln46His) c.117A>C (p.Gln39His) c.54A>C (p.Gln18His) c.-137A>C (n.-137A>C) c.-393A>C (n.-393A>C) c.360A>C (p.Gln120His) | |
| 5 | g.59215867T>A | CA359930912 | PDE4D | c.365A>T (p.Gln122Leu) c.557A>T (p.Gln186Leu) c.227A>T (p.Gln76Leu) c.122A>T (p.Gln41Leu) c.149A>T (p.Gln50Leu) n.220A>T c.191A>T (p.Gln64Leu) c.374A>T (p.Gln125Leu) c.167A>T (p.Gln56Leu) c.-98-176896A>T (n.-98-176896A>T) n.320A>T n.69A>T c.164A>T (p.Gln55Leu) n.102A>T c.521A>T (p.Gln174Leu) c.344A>T (p.Gln115Leu) c.137A>T (p.Gln46Leu) c.116A>T (p.Gln39Leu) c.53A>T (p.Gln18Leu) c.-138A>T (n.-138A>T) c.-394A>T (n.-394A>T) c.359A>T (p.Gln120Leu) | |
| 5 | g.59215867T>C | CA359930913 | PDE4D | c.365A>G (p.Gln122Arg) c.557A>G (p.Gln186Arg) c.227A>G (p.Gln76Arg) c.122A>G (p.Gln41Arg) c.149A>G (p.Gln50Arg) n.220A>G c.191A>G (p.Gln64Arg) c.374A>G (p.Gln125Arg) c.167A>G (p.Gln56Arg) c.-98-176896A>G (n.-98-176896A>G) n.320A>G n.69A>G c.164A>G (p.Gln55Arg) n.102A>G c.521A>G (p.Gln174Arg) c.344A>G (p.Gln115Arg) c.137A>G (p.Gln46Arg) c.116A>G (p.Gln39Arg) c.53A>G (p.Gln18Arg) c.-138A>G (n.-138A>G) c.-394A>G (n.-394A>G) c.359A>G (p.Gln120Arg) | |
| 5 | g.59215867T>G | CA359930914 | PDE4D | c.365A>C (p.Gln122Pro) c.557A>C (p.Gln186Pro) c.227A>C (p.Gln76Pro) c.122A>C (p.Gln41Pro) c.149A>C (p.Gln50Pro) n.220A>C c.191A>C (p.Gln64Pro) c.374A>C (p.Gln125Pro) c.167A>C (p.Gln56Pro) c.-98-176896A>C (n.-98-176896A>C) n.320A>C n.69A>C c.164A>C (p.Gln55Pro) n.102A>C c.521A>C (p.Gln174Pro) c.344A>C (p.Gln115Pro) c.137A>C (p.Gln46Pro) c.116A>C (p.Gln39Pro) c.53A>C (p.Gln18Pro) c.-138A>C (n.-138A>C) c.-394A>C (n.-394A>C) c.359A>C (p.Gln120Pro) | |
| 5 | g.59215868G>A | CA359930915 | PDE4D | c.364C>T (p.Gln122Ter) c.556C>T (p.Gln186Ter) c.226C>T (p.Gln76Ter) c.121C>T (p.Gln41Ter) c.148C>T (p.Gln50Ter) n.219C>T c.190C>T (p.Gln64Ter) c.373C>T (p.Gln125Ter) c.166C>T (p.Gln56Ter) c.-98-176897C>T (n.-98-176897C>T) n.319C>T n.68C>T c.163C>T (p.Gln55Ter) n.101C>T c.520C>T (p.Gln174Ter) c.343C>T (p.Gln115Ter) c.136C>T (p.Gln46Ter) c.115C>T (p.Gln39Ter) c.52C>T (p.Gln18Ter) c.-139C>T (n.-139C>T) c.-395C>T (n.-395C>T) c.358C>T (p.Gln120Ter) | |
| 5 | g.59215868G>C | CA359930916 | PDE4D | c.364C>G (p.Gln122Glu) c.556C>G (p.Gln186Glu) c.226C>G (p.Gln76Glu) c.121C>G (p.Gln41Glu) c.148C>G (p.Gln50Glu) n.219C>G c.190C>G (p.Gln64Glu) c.373C>G (p.Gln125Glu) c.166C>G (p.Gln56Glu) c.-98-176897C>G (n.-98-176897C>G) n.319C>G n.68C>G c.163C>G (p.Gln55Glu) n.101C>G c.520C>G (p.Gln174Glu) c.343C>G (p.Gln115Glu) c.136C>G (p.Gln46Glu) c.115C>G (p.Gln39Glu) c.52C>G (p.Gln18Glu) c.-139C>G (n.-139C>G) c.-395C>G (n.-395C>G) c.358C>G (p.Gln120Glu) | |
| 5 | g.59215868G= | CA1549229336 | PDE4D | c.364C= (p.Gln122=) c.556C= (p.Gln186=) c.226C= (p.Gln76=) c.121C= (p.Gln41=) c.148C= (p.Gln50=) n.219C= c.190C= (p.Gln64=) c.373C= (p.Gln125=) c.166C= (p.Gln56=) c.-98-176897C= (n.-98-176897C=) n.319C= n.68C= c.163C= (p.Gln55=) n.101C= c.520C= (p.Gln174=) c.343C= (p.Gln115=) c.136C= (p.Gln46=) c.115C= (p.Gln39=) c.52C= (p.Gln18=) c.-139C= (n.-139C=) c.-395C= (n.-395C=) c.358C= (p.Gln120=) | |
| 5 | g.59215868G>T | CA359930917 | PDE4D | c.364C>A (p.Gln122Lys) c.556C>A (p.Gln186Lys) c.226C>A (p.Gln76Lys) c.121C>A (p.Gln41Lys) c.148C>A (p.Gln50Lys) n.219C>A c.190C>A (p.Gln64Lys) c.373C>A (p.Gln125Lys) c.166C>A (p.Gln56Lys) c.-98-176897C>A (n.-98-176897C>A) n.319C>A n.68C>A c.163C>A (p.Gln55Lys) n.101C>A c.520C>A (p.Gln174Lys) c.343C>A (p.Gln115Lys) c.136C>A (p.Gln46Lys) c.115C>A (p.Gln39Lys) c.52C>A (p.Gln18Lys) c.-139C>A (n.-139C>A) c.-395C>A (n.-395C>A) c.358C>A (p.Gln120Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.59215869A>C | CA359930918 | PDE4D | c.363T>G (p.Ser121Arg) c.555T>G (p.Ser185Arg) c.225T>G (p.Ser75Arg) c.120T>G (p.Ser40Arg) c.147T>G (p.Ser49Arg) n.218T>G c.189T>G (p.Ser63Arg) c.372T>G (p.Ser124Arg) c.165T>G (p.Ser55Arg) c.-98-176898T>G (n.-98-176898T>G) n.318T>G n.67T>G c.162T>G (p.Ser54Arg) n.100T>G c.519T>G (p.Ser173Arg) c.342T>G (p.Ser114Arg) c.135T>G (p.Ser45Arg) c.114T>G (p.Ser38Arg) c.51T>G (p.Ser17Arg) c.-140T>G (n.-140T>G) c.-396T>G (n.-396T>G) c.357T>G (p.Ser119Arg) | |
| 5 | g.59215869A>G | CA444501356 | PDE4D | c.363T>C (p.Ser121=) c.555T>C (p.Ser185=) c.225T>C (p.Ser75=) c.120T>C (p.Ser40=) c.147T>C (p.Ser49=) n.218T>C c.189T>C (p.Ser63=) c.372T>C (p.Ser124=) c.165T>C (p.Ser55=) c.-98-176898T>C (n.-98-176898T>C) n.318T>C n.67T>C c.162T>C (p.Ser54=) n.100T>C c.519T>C (p.Ser173=) c.342T>C (p.Ser114=) c.135T>C (p.Ser45=) c.114T>C (p.Ser38=) c.51T>C (p.Ser17=) c.-140T>C (n.-140T>C) c.-396T>C (n.-396T>C) c.357T>C (p.Ser119=) | |
| 5 | g.59215869A>T | CA359930919 | PDE4D | c.363T>A (p.Ser121Arg) c.555T>A (p.Ser185Arg) c.225T>A (p.Ser75Arg) c.120T>A (p.Ser40Arg) c.147T>A (p.Ser49Arg) n.218T>A c.189T>A (p.Ser63Arg) c.372T>A (p.Ser124Arg) c.165T>A (p.Ser55Arg) c.-98-176898T>A (n.-98-176898T>A) n.318T>A n.67T>A c.162T>A (p.Ser54Arg) n.100T>A c.519T>A (p.Ser173Arg) c.342T>A (p.Ser114Arg) c.135T>A (p.Ser45Arg) c.114T>A (p.Ser38Arg) c.51T>A (p.Ser17Arg) c.-140T>A (n.-140T>A) c.-396T>A (n.-396T>A) c.357T>A (p.Ser119Arg) | |
| 5 | g.59215870C>A | CA359930920 | PDE4D | c.362G>T (p.Ser121Ile) c.554G>T (p.Ser185Ile) c.224G>T (p.Ser75Ile) c.119G>T (p.Ser40Ile) c.146G>T (p.Ser49Ile) n.217G>T c.188G>T (p.Ser63Ile) c.371G>T (p.Ser124Ile) c.164G>T (p.Ser55Ile) c.-98-176899G>T (n.-98-176899G>T) n.317G>T n.66G>T c.161G>T (p.Ser54Ile) n.99G>T c.518G>T (p.Ser173Ile) c.341G>T (p.Ser114Ile) c.134G>T (p.Ser45Ile) c.113G>T (p.Ser38Ile) c.50G>T (p.Ser17Ile) c.-141G>T (n.-141G>T) c.-397G>T (n.-397G>T) c.356G>T (p.Ser119Ile) | |
| 5 | g.59215870C= | CA1549229337 | PDE4D | c.362G= (p.Ser121=) c.554G= (p.Ser185=) c.224G= (p.Ser75=) c.119G= (p.Ser40=) c.146G= (p.Ser49=) n.217G= c.188G= (p.Ser63=) c.371G= (p.Ser124=) c.164G= (p.Ser55=) c.-98-176899G= (n.-98-176899G=) n.317G= n.66G= c.161G= (p.Ser54=) n.99G= c.518G= (p.Ser173=) c.341G= (p.Ser114=) c.134G= (p.Ser45=) c.113G= (p.Ser38=) c.50G= (p.Ser17=) c.-141G= (n.-141G=) c.-397G= (n.-397G=) c.356G= (p.Ser119=) | |
| 5 | g.59215870C>G | CA359930921 | PDE4D | c.362G>C (p.Ser121Thr) c.554G>C (p.Ser185Thr) c.224G>C (p.Ser75Thr) c.119G>C (p.Ser40Thr) c.146G>C (p.Ser49Thr) n.217G>C c.188G>C (p.Ser63Thr) c.371G>C (p.Ser124Thr) c.164G>C (p.Ser55Thr) c.-98-176899G>C (n.-98-176899G>C) n.317G>C n.66G>C c.161G>C (p.Ser54Thr) n.99G>C c.518G>C (p.Ser173Thr) c.341G>C (p.Ser114Thr) c.134G>C (p.Ser45Thr) c.113G>C (p.Ser38Thr) c.50G>C (p.Ser17Thr) c.-141G>C (n.-141G>C) c.-397G>C (n.-397G>C) c.356G>C (p.Ser119Thr) |