WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.37512451_37512457delinsACAATGA | CA2388506727 | DYRK1A | c.*588_*594delinsACAATGA (n.*588_*594delinsACAATGA) c.2212_2218delinsACAATGA (p.Thr738=) c.2185_2191delinsACAATGA (p.Thr729=) n.1627_1633delinsACAATGA c.2098_2104delinsACAATGA (p.Thr700=) c.*497_*503delinsACAATGA (n.*497_*503delinsACAATGA) c.2125_2131delinsACAATGA (p.Thr709=) c.1528_1534delinsACAATGA (p.Thr510=) c.2233_2239delinsACAATGA (p.Thr745=) c.2206_2212delinsACAATGA (p.Thr736=) | |
| 21 | g.37512452C>A | CA409941609 | DYRK1A | c.*589C>A (n.*589C>A) c.2213C>A (p.Thr738Lys) c.2186C>A (p.Thr729Lys) n.1628C>A c.2099C>A (p.Thr700Lys) c.*498C>A (n.*498C>A) c.2126C>A (p.Thr709Lys) c.1529C>A (p.Thr510Lys) c.2234C>A (p.Thr745Lys) c.2207C>A (p.Thr736Lys) | |
| 21 | g.37512452C>G | CA409941612 | DYRK1A | c.*589C>G (n.*589C>G) c.2213C>G (p.Thr738Arg) c.2186C>G (p.Thr729Arg) n.1628C>G c.2099C>G (p.Thr700Arg) c.*498C>G (n.*498C>G) c.2126C>G (p.Thr709Arg) c.1529C>G (p.Thr510Arg) c.2234C>G (p.Thr745Arg) c.2207C>G (p.Thr736Arg) | |
| 21 | g.37512452C>T | CA409941615 | DYRK1A | c.*589C>T (n.*589C>T) c.2213C>T (p.Thr738Ile) c.2186C>T (p.Thr729Ile) n.1628C>T c.2099C>T (p.Thr700Ile) c.*498C>T (n.*498C>T) c.2126C>T (p.Thr709Ile) c.1529C>T (p.Thr510Ile) c.2234C>T (p.Thr745Ile) c.2207C>T (p.Thr736Ile) | |
| 21 | g.37512452_37512457delinsAGAG | CA16621008 | DYRK1A | c.*589_*594delinsAGAG (n.*589_*594delinsAGAG) c.2213_2218delinsAGAG (p.Thr738LysfsTer6) c.2186_2191delinsAGAG (p.Thr729LysfsTer6) n.1628_1633delinsAGAG c.2099_2104delinsAGAG (p.Thr700LysfsTer6) c.*498_*503delinsAGAG (n.*498_*503delinsAGAG) c.2126_2131delinsAGAG (p.Thr709LysfsTer6) c.1529_1534delinsAGAG (p.Thr510LysfsTer6) c.2234_2239delinsAGAG (p.Thr745LysfsTer6) c.2207_2212delinsAGAG (p.Thr736LysfsTer6) | ClinVar dbSNP |
| 21 | g.37512453A>C | CA512328465 | DYRK1A | c.*590A>C (n.*590A>C) c.2214A>C (p.Thr738=) c.2187A>C (p.Thr729=) n.1629A>C c.2100A>C (p.Thr700=) c.*499A>C (n.*499A>C) c.2127A>C (p.Thr709=) c.1530A>C (p.Thr510=) c.2235A>C (p.Thr745=) c.2208A>C (p.Thr736=) | |
| 21 | g.37512453A>G | CA512328463 | DYRK1A | c.*590A>G (n.*590A>G) c.2214A>G (p.Thr738=) c.2187A>G (p.Thr729=) n.1629A>G c.2100A>G (p.Thr700=) c.*499A>G (n.*499A>G) c.2127A>G (p.Thr709=) c.1530A>G (p.Thr510=) c.2235A>G (p.Thr745=) c.2208A>G (p.Thr736=) | ClinVar dbSNP COSMIC |
| 21 | g.37512453A>T | CA512328464 | DYRK1A | c.*590A>T (n.*590A>T) c.2214A>T (p.Thr738=) c.2187A>T (p.Thr729=) n.1629A>T c.2100A>T (p.Thr700=) c.*499A>T (n.*499A>T) c.2127A>T (p.Thr709=) c.1530A>T (p.Thr510=) c.2235A>T (p.Thr745=) c.2208A>T (p.Thr736=) | |
| 21 | g.37512454A= | CA2388506728 | DYRK1A | c.*591A= (n.*591A=) c.2215A= (p.Met739=) c.2188A= (p.Met730=) n.1630A= c.2101A= (p.Met701=) c.*500A= (n.*500A=) c.2128A= (p.Met710=) c.1531A= (p.Met511=) c.2236A= (p.Met746=) c.2209A= (p.Met737=) | |
| 21 | g.37512454A>C | CA409941619 | DYRK1A | c.*591A>C (n.*591A>C) c.2215A>C (p.Met739Leu) c.2188A>C (p.Met730Leu) n.1630A>C c.2101A>C (p.Met701Leu) c.*500A>C (n.*500A>C) c.2128A>C (p.Met710Leu) c.1531A>C (p.Met511Leu) c.2236A>C (p.Met746Leu) c.2209A>C (p.Met737Leu) | |
| 21 | g.37512454A>G | CA208087 | DYRK1A | c.*591A>G (n.*591A>G) c.2215A>G (p.Met739Val) c.2188A>G (p.Met730Val) n.1630A>G c.2101A>G (p.Met701Val) c.*500A>G (n.*500A>G) c.2128A>G (p.Met710Val) c.1531A>G (p.Met511Val) c.2236A>G (p.Met746Val) c.2209A>G (p.Met737Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37512454A>T | CA10024178 | DYRK1A | c.*591A>T (n.*591A>T) c.2215A>T (p.Met739Leu) c.2188A>T (p.Met730Leu) n.1630A>T c.2101A>T (p.Met701Leu) c.*500A>T (n.*500A>T) c.2128A>T (p.Met710Leu) c.1531A>T (p.Met511Leu) c.2236A>T (p.Met746Leu) c.2209A>T (p.Met737Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37512455T>A | CA409941621 | DYRK1A | c.*592T>A (n.*592T>A) c.2216T>A (p.Met739Lys) c.2189T>A (p.Met730Lys) n.1631T>A c.2102T>A (p.Met701Lys) c.*501T>A (n.*501T>A) c.2129T>A (p.Met710Lys) c.1532T>A (p.Met511Lys) c.2237T>A (p.Met746Lys) c.2210T>A (p.Met737Lys) | |
| 21 | g.37512455T>C | CA10024179 | DYRK1A | c.*592T>C (n.*592T>C) c.2216T>C (p.Met739Thr) c.2189T>C (p.Met730Thr) n.1631T>C c.2102T>C (p.Met701Thr) c.*501T>C (n.*501T>C) c.2129T>C (p.Met710Thr) c.1532T>C (p.Met511Thr) c.2237T>C (p.Met746Thr) c.2210T>C (p.Met737Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37512455T>G | CA409941626 | DYRK1A | c.*592T>G (n.*592T>G) c.2216T>G (p.Met739Arg) c.2189T>G (p.Met730Arg) n.1631T>G c.2102T>G (p.Met701Arg) c.*501T>G (n.*501T>G) c.2129T>G (p.Met710Arg) c.1532T>G (p.Met511Arg) c.2237T>G (p.Met746Arg) c.2210T>G (p.Met737Arg) | |
| 21 | g.37512455T= | CA2388506729 | DYRK1A | c.*592T= (n.*592T=) c.2216T= (p.Met739=) c.2189T= (p.Met730=) n.1631T= c.2102T= (p.Met701=) c.*501T= (n.*501T=) c.2129T= (p.Met710=) c.1532T= (p.Met511=) c.2237T= (p.Met746=) c.2210T= (p.Met737=) | |
| 21 | g.37512456G>A | CA409941631 | DYRK1A | c.*593G>A (n.*593G>A) c.2217G>A (p.Met739Ile) c.2190G>A (p.Met730Ile) n.1632G>A c.2103G>A (p.Met701Ile) c.*502G>A (n.*502G>A) c.2130G>A (p.Met710Ile) c.1533G>A (p.Met511Ile) c.2238G>A (p.Met746Ile) c.2211G>A (p.Met737Ile) | COSMIC |
| 21 | g.37512456G>C | CA409941634 | DYRK1A | c.*593G>C (n.*593G>C) c.2217G>C (p.Met739Ile) c.2190G>C (p.Met730Ile) n.1632G>C c.2103G>C (p.Met701Ile) c.*502G>C (n.*502G>C) c.2130G>C (p.Met710Ile) c.1533G>C (p.Met511Ile) c.2238G>C (p.Met746Ile) c.2211G>C (p.Met737Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37512456G= | CA2388506730 | DYRK1A | c.*593G= (n.*593G=) c.2217G= (p.Met739=) c.2190G= (p.Met730=) n.1632G= c.2103G= (p.Met701=) c.*502G= (n.*502G=) c.2130G= (p.Met710=) c.1533G= (p.Met511=) c.2238G= (p.Met746=) c.2211G= (p.Met737=) | |
| 21 | g.37512456G>T | CA409941637 | DYRK1A | c.*593G>T (n.*593G>T) c.2217G>T (p.Met739Ile) c.2190G>T (p.Met730Ile) n.1632G>T c.2103G>T (p.Met701Ile) c.*502G>T (n.*502G>T) c.2130G>T (p.Met710Ile) c.1533G>T (p.Met511Ile) c.2238G>T (p.Met746Ile) c.2211G>T (p.Met737Ile) | |
| 21 | g.37512457A>C | CA512328469 | DYRK1A | c.*594A>C (n.*594A>C) c.2218A>C (p.Arg740=) c.2191A>C (p.Arg731=) n.1633A>C c.2104A>C (p.Arg702=) c.*503A>C (n.*503A>C) c.2131A>C (p.Arg711=) c.1534A>C (p.Arg512=) c.2239A>C (p.Arg747=) c.2212A>C (p.Arg738=) | |
| 21 | g.37512457A>G | CA409941642 | DYRK1A | c.*594A>G (n.*594A>G) c.2218A>G (p.Arg740Gly) c.2191A>G (p.Arg731Gly) n.1633A>G c.2104A>G (p.Arg702Gly) c.*503A>G (n.*503A>G) c.2131A>G (p.Arg711Gly) c.1534A>G (p.Arg512Gly) c.2239A>G (p.Arg747Gly) c.2212A>G (p.Arg738Gly) | |
| 21 | g.37512457A>T | CA409941645 | DYRK1A | c.*594A>T (n.*594A>T) c.2218A>T (p.Arg740Trp) c.2191A>T (p.Arg731Trp) n.1633A>T c.2104A>T (p.Arg702Trp) c.*503A>T (n.*503A>T) c.2131A>T (p.Arg711Trp) c.1534A>T (p.Arg512Trp) c.2239A>T (p.Arg747Trp) c.2212A>T (p.Arg738Trp) | |
| 21 | g.37512458G>A | CA409941648 | DYRK1A | c.*595G>A (n.*595G>A) c.2219G>A (p.Arg740Lys) c.2192G>A (p.Arg731Lys) n.1634G>A c.2105G>A (p.Arg702Lys) c.*504G>A (n.*504G>A) c.2132G>A (p.Arg711Lys) c.1535G>A (p.Arg512Lys) c.2240G>A (p.Arg747Lys) c.2213G>A (p.Arg738Lys) | |
| 21 | g.37512458G>C | CA409941651 | DYRK1A | c.*595G>C (n.*595G>C) c.2219G>C (p.Arg740Thr) c.2192G>C (p.Arg731Thr) n.1634G>C c.2105G>C (p.Arg702Thr) c.*504G>C (n.*504G>C) c.2132G>C (p.Arg711Thr) c.1535G>C (p.Arg512Thr) c.2240G>C (p.Arg747Thr) c.2213G>C (p.Arg738Thr) | |
| 21 | g.37512458G>T | CA409941654 | DYRK1A | c.*595G>T (n.*595G>T) c.2219G>T (p.Arg740Met) c.2192G>T (p.Arg731Met) n.1634G>T c.2105G>T (p.Arg702Met) c.*504G>T (n.*504G>T) c.2132G>T (p.Arg711Met) c.1535G>T (p.Arg512Met) c.2240G>T (p.Arg747Met) c.2213G>T (p.Arg738Met) | |
| 21 | g.37512459dup | CA2739289556 | DYRK1A | c.*596dup (n.*596dup) c.2220dup (p.Gln741AlafsTer4) c.2193dup (p.Gln732AlafsTer4) n.1635dup c.2106dup (p.Gln703AlafsTer4) c.*505dup (n.*505dup) c.2133dup (p.Gln712AlafsTer4) c.1536dup (p.Gln513AlafsTer4) c.2241dup (p.Gln748AlafsTer4) c.2214dup (p.Gln739AlafsTer4) | |
| 21 | g.37512459G>A | CA512328470 | DYRK1A | c.*596G>A (n.*596G>A) c.2220G>A (p.Arg740=) c.2193G>A (p.Arg731=) n.1635G>A c.2106G>A (p.Arg702=) c.*505G>A (n.*505G>A) c.2133G>A (p.Arg711=) c.1536G>A (p.Arg512=) c.2241G>A (p.Arg747=) c.2214G>A (p.Arg738=) | COSMIC |
| 21 | g.37512459G>C | CA409941658 | DYRK1A | c.*596G>C (n.*596G>C) c.2220G>C (p.Arg740Ser) c.2193G>C (p.Arg731Ser) n.1635G>C c.2106G>C (p.Arg702Ser) c.*505G>C (n.*505G>C) c.2133G>C (p.Arg711Ser) c.1536G>C (p.Arg512Ser) c.2241G>C (p.Arg747Ser) c.2214G>C (p.Arg738Ser) | |
| 21 | g.37512459G>T | CA409941660 | DYRK1A | c.*596G>T (n.*596G>T) c.2220G>T (p.Arg740Ser) c.2193G>T (p.Arg731Ser) n.1635G>T c.2106G>T (p.Arg702Ser) c.*505G>T (n.*505G>T) c.2133G>T (p.Arg711Ser) c.1536G>T (p.Arg512Ser) c.2241G>T (p.Arg747Ser) c.2214G>T (p.Arg738Ser) | |
| 21 | g.37512460C>A | CA409941668 | DYRK1A | c.*597C>A (n.*597C>A) c.2221C>A (p.Gln741Lys) c.2194C>A (p.Gln732Lys) n.1636C>A c.2107C>A (p.Gln703Lys) c.*506C>A (n.*506C>A) c.2134C>A (p.Gln712Lys) c.1537C>A (p.Gln513Lys) c.2242C>A (p.Gln748Lys) c.2215C>A (p.Gln739Lys) | dbSNP gnomAD v4 |
| 21 | g.37512460C= | CA2388506731 | DYRK1A | c.*597C= (n.*597C=) c.2221C= (p.Gln741=) c.2194C= (p.Gln732=) n.1636C= c.2107C= (p.Gln703=) c.*506C= (n.*506C=) c.2134C= (p.Gln712=) c.1537C= (p.Gln513=) c.2242C= (p.Gln748=) c.2215C= (p.Gln739=) | |
| 21 | g.37512460C>G | CA409941671 | DYRK1A | c.*597C>G (n.*597C>G) c.2221C>G (p.Gln741Glu) c.2194C>G (p.Gln732Glu) n.1636C>G c.2107C>G (p.Gln703Glu) c.*506C>G (n.*506C>G) c.2134C>G (p.Gln712Glu) c.1537C>G (p.Gln513Glu) c.2242C>G (p.Gln748Glu) c.2215C>G (p.Gln739Glu) | |
| 21 | g.37512460C>T | CA409941665 | DYRK1A | c.*597C>T (n.*597C>T) c.2221C>T (p.Gln741Ter) c.2194C>T (p.Gln732Ter) n.1636C>T c.2107C>T (p.Gln703Ter) c.*506C>T (n.*506C>T) c.2134C>T (p.Gln712Ter) c.1537C>T (p.Gln513Ter) c.2242C>T (p.Gln748Ter) c.2215C>T (p.Gln739Ter) | dbSNP |
| 21 | g.37512461A>C | CA409941676 | DYRK1A | c.*598A>C (n.*598A>C) c.2222A>C (p.Gln741Pro) c.2195A>C (p.Gln732Pro) n.1637A>C c.2108A>C (p.Gln703Pro) c.*507A>C (n.*507A>C) c.2135A>C (p.Gln712Pro) c.1538A>C (p.Gln513Pro) c.2243A>C (p.Gln748Pro) c.2216A>C (p.Gln739Pro) | |
| 21 | g.37512461A>G | CA409941678 | DYRK1A | c.*598A>G (n.*598A>G) c.2222A>G (p.Gln741Arg) c.2195A>G (p.Gln732Arg) n.1637A>G c.2108A>G (p.Gln703Arg) c.*507A>G (n.*507A>G) c.2135A>G (p.Gln712Arg) c.1538A>G (p.Gln513Arg) c.2243A>G (p.Gln748Arg) c.2216A>G (p.Gln739Arg) | gnomAD v4 |
| 21 | g.37512461A>T | CA409941681 | DYRK1A | c.*598A>T (n.*598A>T) c.2222A>T (p.Gln741Leu) c.2195A>T (p.Gln732Leu) n.1637A>T c.2108A>T (p.Gln703Leu) c.*507A>T (n.*507A>T) c.2135A>T (p.Gln712Leu) c.1538A>T (p.Gln513Leu) c.2243A>T (p.Gln748Leu) c.2216A>T (p.Gln739Leu) | |
| 21 | g.37512462A>C | CA409941686 | DYRK1A | c.*599A>C (n.*599A>C) c.2223A>C (p.Gln741His) c.2196A>C (p.Gln732His) n.1638A>C c.2109A>C (p.Gln703His) c.*508A>C (n.*508A>C) c.2136A>C (p.Gln712His) c.1539A>C (p.Gln513His) c.2244A>C (p.Gln748His) c.2217A>C (p.Gln739His) | |
| 21 | g.37512462A>G | CA512328479 | DYRK1A | c.*599A>G (n.*599A>G) c.2223A>G (p.Gln741=) c.2196A>G (p.Gln732=) n.1638A>G c.2109A>G (p.Gln703=) c.*508A>G (n.*508A>G) c.2136A>G (p.Gln712=) c.1539A>G (p.Gln513=) c.2244A>G (p.Gln748=) c.2217A>G (p.Gln739=) | |
| 21 | g.37512462A>T | CA409941689 | DYRK1A | c.*599A>T (n.*599A>T) c.2223A>T (p.Gln741His) c.2196A>T (p.Gln732His) n.1638A>T c.2109A>T (p.Gln703His) c.*508A>T (n.*508A>T) c.2136A>T (p.Gln712His) c.1539A>T (p.Gln513His) c.2244A>T (p.Gln748His) c.2217A>T (p.Gln739His) | |
| 21 | g.37512463G>A | CA409941692 | DYRK1A | c.*600G>A (n.*600G>A) c.2224G>A (p.Gly742Arg) c.2197G>A (p.Gly733Arg) n.1639G>A c.2110G>A (p.Gly704Arg) c.*509G>A (n.*509G>A) c.2137G>A (p.Gly713Arg) c.1540G>A (p.Gly514Arg) c.2245G>A (p.Gly749Arg) c.2218G>A (p.Gly740Arg) | gnomAD v4 |
| 21 | g.37512463G>C | CA409941695 | DYRK1A | c.*600G>C (n.*600G>C) c.2224G>C (p.Gly742Arg) c.2197G>C (p.Gly733Arg) n.1639G>C c.2110G>C (p.Gly704Arg) c.*509G>C (n.*509G>C) c.2137G>C (p.Gly713Arg) c.1540G>C (p.Gly514Arg) c.2245G>C (p.Gly749Arg) c.2218G>C (p.Gly740Arg) | gnomAD v4 |
| 21 | g.37512463G>T | CA409941698 | DYRK1A | c.*600G>T (n.*600G>T) c.2224G>T (p.Gly742Trp) c.2197G>T (p.Gly733Trp) n.1639G>T c.2110G>T (p.Gly704Trp) c.*509G>T (n.*509G>T) c.2137G>T (p.Gly713Trp) c.1540G>T (p.Gly514Trp) c.2245G>T (p.Gly749Trp) c.2218G>T (p.Gly740Trp) | |
| 21 | g.37512466del | CA2654483614 | DYRK1A | c.*603del (n.*603del) c.2227del (p.Ala743LeufsTer8) c.2200del (p.Ala734LeufsTer8) n.1642del c.2113del (p.Ala705LeufsTer8) c.*512del (n.*512del) c.2140del (p.Ala714LeufsTer8) c.1543del (p.Ala515LeufsTer8) c.2248del (p.Ala750LeufsTer8) c.2221del (p.Ala741LeufsTer8) | gnomAD v4 |
| 21 | g.37512464G>A | CA10024180 | DYRK1A | c.*601G>A (n.*601G>A) c.2225G>A (p.Gly742Glu) c.2198G>A (p.Gly733Glu) n.1640G>A c.2111G>A (p.Gly704Glu) c.*510G>A (n.*510G>A) c.2138G>A (p.Gly713Glu) c.1541G>A (p.Gly514Glu) c.2246G>A (p.Gly749Glu) c.2219G>A (p.Gly740Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37512464G>C | CA409941705 | DYRK1A | c.*601G>C (n.*601G>C) c.2225G>C (p.Gly742Ala) c.2198G>C (p.Gly733Ala) n.1640G>C c.2111G>C (p.Gly704Ala) c.*510G>C (n.*510G>C) c.2138G>C (p.Gly713Ala) c.1541G>C (p.Gly514Ala) c.2246G>C (p.Gly749Ala) c.2219G>C (p.Gly740Ala) | |
| 21 | g.37512464G= | CA2388506732 | DYRK1A | c.*601G= (n.*601G=) c.2225G= (p.Gly742=) c.2198G= (p.Gly733=) n.1640G= c.2111G= (p.Gly704=) c.*510G= (n.*510G=) c.2138G= (p.Gly713=) c.1541G= (p.Gly514=) c.2246G= (p.Gly749=) c.2219G= (p.Gly740=) | |
| 21 | g.37512464G>T | CA409941709 | DYRK1A | c.*601G>T (n.*601G>T) c.2225G>T (p.Gly742Val) c.2198G>T (p.Gly733Val) n.1640G>T c.2111G>T (p.Gly704Val) c.*510G>T (n.*510G>T) c.2138G>T (p.Gly713Val) c.1541G>T (p.Gly514Val) c.2246G>T (p.Gly749Val) c.2219G>T (p.Gly740Val) | |
| 21 | g.37512465G>A | CA512328488 | DYRK1A | c.*602G>A (n.*602G>A) c.2226G>A (p.Gly742=) c.2199G>A (p.Gly733=) n.1641G>A c.2112G>A (p.Gly704=) c.*511G>A (n.*511G>A) c.2139G>A (p.Gly713=) c.1542G>A (p.Gly514=) c.2247G>A (p.Gly749=) c.2220G>A (p.Gly740=) | gnomAD v4 |
| 21 | g.37512465G>C | CA512328486 | DYRK1A | c.*602G>C (n.*602G>C) c.2226G>C (p.Gly742=) c.2199G>C (p.Gly733=) n.1641G>C c.2112G>C (p.Gly704=) c.*511G>C (n.*511G>C) c.2139G>C (p.Gly713=) c.1542G>C (p.Gly514=) c.2247G>C (p.Gly749=) c.2220G>C (p.Gly740=) |