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 |
|---|---|---|---|---|---|
| 19 | g.36065984C>A | CA272797 | WDR62 | c.359C>A (p.Ser120Tyr) c.443C>A (p.Ser148Tyr) n.423C>A n.682C>A n.450C>A c.425C>A (p.Ser142Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.36065984C= | CA2333953243 | WDR62 | c.359C= (p.Ser120=) c.443C= (p.Ser148=) n.423C= n.682C= n.450C= c.425C= (p.Ser142=) | |
| 19 | g.36065984C>G | CA405426326 | WDR62 | c.359C>G (p.Ser120Cys) c.443C>G (p.Ser148Cys) n.423C>G n.682C>G n.450C>G c.425C>G (p.Ser142Cys) | |
| 19 | g.36065984C>T | CA405426327 | WDR62 | c.359C>T (p.Ser120Phe) c.443C>T (p.Ser148Phe) n.423C>T n.682C>T n.450C>T c.425C>T (p.Ser142Phe) | |
| 19 | g.36065985C>A | CA507109480 | WDR62 | c.360C>A (p.Ser120=) c.444C>A (p.Ser148=) n.424C>A n.683C>A n.451C>A c.426C>A (p.Ser142=) | |
| 19 | g.36065985C= | CA2333953244 | WDR62 | c.360C= (p.Ser120=) c.444C= (p.Ser148=) n.424C= n.683C= n.451C= c.426C= (p.Ser142=) | |
| 19 | g.36065985C>G | CA507109481 | WDR62 | c.360C>G (p.Ser120=) c.444C>G (p.Ser148=) n.424C>G n.683C>G n.451C>G c.426C>G (p.Ser142=) | |
| 19 | g.36065985C>T | CA307841036 | WDR62 | c.360C>T (p.Ser120=) c.444C>T (p.Ser148=) n.424C>T n.683C>T n.451C>T c.426C>T (p.Ser142=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.36065986C>A | CA405426329 | WDR62 | c.361C>A (p.Pro121Thr) c.445C>A (p.Pro149Thr) n.425C>A n.684C>A n.452C>A c.427C>A (p.Pro143Thr) | |
| 19 | g.36065986C>G | CA405426330 | WDR62 | c.361C>G (p.Pro121Ala) c.445C>G (p.Pro149Ala) n.425C>G n.684C>G n.452C>G c.427C>G (p.Pro143Ala) | gnomAD v4 |
| 19 | g.36065986C>T | CA405426328 | WDR62 | c.361C>T (p.Pro121Ser) c.445C>T (p.Pro149Ser) n.425C>T n.684C>T n.452C>T c.427C>T (p.Pro143Ser) | gnomAD v4 |
| 19 | g.36065987C>A | CA405426333 | WDR62 | c.362C>A (p.Pro121His) c.446C>A (p.Pro149His) n.426C>A n.685C>A n.453C>A c.428C>A (p.Pro143His) | |
| 19 | g.36065987C= | CA2333953245 | WDR62 | c.362C= (p.Pro121=) c.446C= (p.Pro149=) n.426C= n.685C= n.453C= c.428C= (p.Pro143=) | |
| 19 | g.36065987C>G | CA405426331 | WDR62 | c.362C>G (p.Pro121Arg) c.446C>G (p.Pro149Arg) n.426C>G n.685C>G n.453C>G c.428C>G (p.Pro143Arg) | |
| 19 | g.36065987C>T | CA405426332 | WDR62 | c.362C>T (p.Pro121Leu) c.446C>T (p.Pro149Leu) n.426C>T n.685C>T n.453C>T c.428C>T (p.Pro143Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.36065987_36065988delinsCT | CA2333953246 | WDR62 | c.362_363delinsCT (p.Pro121=) c.446_447delinsCT (p.Pro149=) n.426_427delinsCT n.685_686delinsCT n.453_454delinsCT c.428_429delinsCT (p.Pro143=) | |
| 19 | g.36065988del | CA259978 | WDR62 | c.363del (p.Asp122MetfsTer5) c.447del (p.Asp150MetfsTer5) n.427del n.686del n.454del c.429del (p.Asp144MetfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.36065988T>A | CA507109482 | WDR62 | c.363T>A (p.Pro121=) c.447T>A (p.Pro149=) n.427T>A n.686T>A n.454T>A c.429T>A (p.Pro143=) | |
| 19 | g.36065988T>C | CA507109483 | WDR62 | c.363T>C (p.Pro121=) c.447T>C (p.Pro149=) n.427T>C n.686T>C n.454T>C c.429T>C (p.Pro143=) | gnomAD v4 |
| 19 | g.36065988T>G | CA507109484 | WDR62 | c.363T>G (p.Pro121=) c.447T>G (p.Pro149=) n.427T>G n.686T>G n.454T>G c.429T>G (p.Pro143=) | |
| 19 | g.36065989G>A | CA9395251 | WDR62 | c.364G>A (p.Asp122Asn) c.448G>A (p.Asp150Asn) n.428G>A n.687G>A n.455G>A c.430G>A (p.Asp144Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.36065989G>C | CA405426334 | WDR62 | c.364G>C (p.Asp122His) c.448G>C (p.Asp150His) n.428G>C n.687G>C n.455G>C c.430G>C (p.Asp144His) | |
| 19 | g.36065989G= | CA2333953247 | WDR62 | c.364G= (p.Asp122=) c.448G= (p.Asp150=) n.428G= n.687G= n.455G= c.430G= (p.Asp144=) | |
| 19 | g.36065989G>T | CA405426335 | WDR62 | c.364G>T (p.Asp122Tyr) c.448G>T (p.Asp150Tyr) n.428G>T n.687G>T n.455G>T c.430G>T (p.Asp144Tyr) | |
| 19 | g.36065990A= | CA2333953248 | WDR62 | c.365A= (p.Asp122=) c.449A= (p.Asp150=) n.429A= n.688A= n.456A= c.431A= (p.Asp144=) | |
| 19 | g.36065990A>C | CA405426337 | WDR62 | c.365A>C (p.Asp122Ala) c.449A>C (p.Asp150Ala) n.429A>C n.688A>C n.456A>C c.431A>C (p.Asp144Ala) | |
| 19 | g.36065990A>G | CA405426336 | WDR62 | c.365A>G (p.Asp122Gly) c.449A>G (p.Asp150Gly) n.429A>G n.688A>G n.456A>G c.431A>G (p.Asp144Gly) | |
| 19 | g.36065990A>T | CA9395252 | WDR62 | c.365A>T (p.Asp122Val) c.449A>T (p.Asp150Val) n.429A>T n.688A>T n.456A>T c.431A>T (p.Asp144Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.36065991T>A | CA405426338 | WDR62 | c.366T>A (p.Asp122Glu) c.450T>A (p.Asp150Glu) n.430T>A n.689T>A n.457T>A c.432T>A (p.Asp144Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.36065991T>C | CA507109485 | WDR62 | c.366T>C (p.Asp122=) c.450T>C (p.Asp150=) n.430T>C n.689T>C n.457T>C c.432T>C (p.Asp144=) | |
| 19 | g.36065991T>G | CA405426339 | WDR62 | c.366T>G (p.Asp122Glu) c.450T>G (p.Asp150Glu) n.430T>G n.689T>G n.457T>G c.432T>G (p.Asp144Glu) | |
| 19 | g.36065991T= | CA2333953249 | WDR62 | c.366T= (p.Asp122=) c.450T= (p.Asp150=) n.430T= n.689T= n.457T= c.432T= (p.Asp144=) | |
| 19 | g.36065992G>A | CA9395253 | WDR62 | c.367G>A (p.Gly123Arg) c.451G>A (p.Gly151Arg) n.431G>A n.690G>A n.458G>A c.433G>A (p.Gly145Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.36065992G>C | CA405426340 | WDR62 | c.367G>C (p.Gly123Arg) c.451G>C (p.Gly151Arg) n.431G>C n.690G>C n.458G>C c.433G>C (p.Gly145Arg) | |
| 19 | g.36065992G= | CA2333953250 | WDR62 | c.367G= (p.Gly123=) c.451G= (p.Gly151=) n.431G= n.690G= n.458G= c.433G= (p.Gly145=) | |
| 19 | g.36065992G>T | CA405426341 | WDR62 | c.367G>T (p.Gly123Trp) c.451G>T (p.Gly151Trp) n.431G>T n.690G>T n.458G>T c.433G>T (p.Gly145Trp) | |
| 19 | g.36065993G>A | CA9395254 | WDR62 | c.368G>A (p.Gly123Glu) c.452G>A (p.Gly151Glu) n.432G>A n.691G>A n.459G>A c.434G>A (p.Gly145Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.36065993G>C | CA405426343 | WDR62 | c.368G>C (p.Gly123Ala) c.452G>C (p.Gly151Ala) n.432G>C n.691G>C n.459G>C c.434G>C (p.Gly145Ala) | |
| 19 | g.36065993G= | CA2333953251 | WDR62 | c.368G= (p.Gly123=) c.452G= (p.Gly151=) n.432G= n.691G= n.459G= c.434G= (p.Gly145=) | |
| 19 | g.36065993G>T | CA405426342 | WDR62 | c.368G>T (p.Gly123Val) c.452G>T (p.Gly151Val) n.432G>T n.691G>T n.459G>T c.434G>T (p.Gly145Val) | |
| 19 | g.36065994G>A | CA507109486 | WDR62 | c.369G>A (p.Gly123=) c.453G>A (p.Gly151=) n.433G>A n.692G>A n.460G>A c.435G>A (p.Gly145=) | dbSNP |
| 19 | g.36065994G>C | CA507109487 | WDR62 | c.369G>C (p.Gly123=) c.453G>C (p.Gly151=) n.433G>C n.692G>C n.460G>C c.435G>C (p.Gly145=) | |
| 19 | g.36065994G= | CA2333953252 | WDR62 | c.369G= (p.Gly123=) c.453G= (p.Gly151=) n.433G= n.692G= n.460G= c.435G= (p.Gly145=) | |
| 19 | g.36065994G>T | CA507109488 | WDR62 | c.369G>T (p.Gly123=) c.453G>T (p.Gly151=) n.433G>T n.692G>T n.460G>T c.435G>T (p.Gly145=) | |
| 19 | g.36065995A>C | CA405426344 | WDR62 | c.370A>C (p.Lys124Gln) c.454A>C (p.Lys152Gln) n.434A>C n.693A>C n.461A>C c.436A>C (p.Lys146Gln) | |
| 19 | g.36065995A>G | CA405426345 | WDR62 | c.370A>G (p.Lys124Glu) c.454A>G (p.Lys152Glu) n.434A>G n.693A>G n.461A>G c.436A>G (p.Lys146Glu) | |
| 19 | g.36065995A>T | CA405426346 | WDR62 | c.370A>T (p.Lys124Ter) c.454A>T (p.Lys152Ter) n.434A>T n.693A>T n.461A>T c.436A>T (p.Lys146Ter) | |
| 19 | g.36065996A>C | CA405426347 | WDR62 | c.371A>C (p.Lys124Thr) c.455A>C (p.Lys152Thr) n.435A>C n.694A>C n.462A>C c.437A>C (p.Lys146Thr) | |
| 19 | g.36065996A>G | CA405426348 | WDR62 | c.371A>G (p.Lys124Arg) c.455A>G (p.Lys152Arg) n.435A>G n.694A>G n.462A>G c.437A>G (p.Lys146Arg) | |
| 19 | g.36065996A>T | CA405426349 | WDR62 | c.371A>T (p.Lys124Met) c.455A>T (p.Lys152Met) n.435A>T n.694A>T n.462A>T c.437A>T (p.Lys146Met) |