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.37512352T>A | CA409940754 | DYRK1A | c.*489T>A (n.*489T>A) c.2113T>A (p.Tyr705Asn) c.2086T>A (p.Tyr696Asn) n.1528T>A c.1999T>A (p.Tyr667Asn) c.*398T>A (n.*398T>A) c.2026T>A (p.Tyr676Asn) c.1429T>A (p.Tyr477Asn) c.2134T>A (p.Tyr712Asn) c.2107T>A (p.Tyr703Asn) | |
| 21 | g.37512352T>C | CA409940757 | DYRK1A | c.*489T>C (n.*489T>C) c.2113T>C (p.Tyr705His) c.2086T>C (p.Tyr696His) n.1528T>C c.1999T>C (p.Tyr667His) c.*398T>C (n.*398T>C) c.2026T>C (p.Tyr676His) c.1429T>C (p.Tyr477His) c.2134T>C (p.Tyr712His) c.2107T>C (p.Tyr703His) | |
| 21 | g.37512352T>G | CA409940760 | DYRK1A | c.*489T>G (n.*489T>G) c.2113T>G (p.Tyr705Asp) c.2086T>G (p.Tyr696Asp) n.1528T>G c.1999T>G (p.Tyr667Asp) c.*398T>G (n.*398T>G) c.2026T>G (p.Tyr676Asp) c.1429T>G (p.Tyr477Asp) c.2134T>G (p.Tyr712Asp) c.2107T>G (p.Tyr703Asp) | |
| 21 | g.37512353A= | CA2388506686 | DYRK1A | c.*490A= (n.*490A=) c.2114A= (p.Tyr705=) c.2087A= (p.Tyr696=) n.1529A= c.2000A= (p.Tyr667=) c.*399A= (n.*399A=) c.2027A= (p.Tyr676=) c.1430A= (p.Tyr477=) c.2135A= (p.Tyr712=) c.2108A= (p.Tyr703=) | |
| 21 | g.37512353A>C | CA409940764 | DYRK1A | c.*490A>C (n.*490A>C) c.2114A>C (p.Tyr705Ser) c.2087A>C (p.Tyr696Ser) n.1529A>C c.2000A>C (p.Tyr667Ser) c.*399A>C (n.*399A>C) c.2027A>C (p.Tyr676Ser) c.1430A>C (p.Tyr477Ser) c.2135A>C (p.Tyr712Ser) c.2108A>C (p.Tyr703Ser) | dbSNP gnomAD v4 |
| 21 | g.37512353A>G | CA409940767 | DYRK1A | c.*490A>G (n.*490A>G) c.2114A>G (p.Tyr705Cys) c.2087A>G (p.Tyr696Cys) n.1529A>G c.2000A>G (p.Tyr667Cys) c.*399A>G (n.*399A>G) c.2027A>G (p.Tyr676Cys) c.1430A>G (p.Tyr477Cys) c.2135A>G (p.Tyr712Cys) c.2108A>G (p.Tyr703Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37512353A>T | CA10024162 | DYRK1A | c.*490A>T (n.*490A>T) c.2114A>T (p.Tyr705Phe) c.2087A>T (p.Tyr696Phe) n.1529A>T c.2000A>T (p.Tyr667Phe) c.*399A>T (n.*399A>T) c.2027A>T (p.Tyr676Phe) c.1430A>T (p.Tyr477Phe) c.2135A>T (p.Tyr712Phe) c.2108A>T (p.Tyr703Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.37512354C>A | CA409940774 | DYRK1A | c.*491C>A (n.*491C>A) c.2115C>A (p.Tyr705Ter) c.2088C>A (p.Tyr696Ter) n.1530C>A c.2001C>A (p.Tyr667Ter) c.*400C>A (n.*400C>A) c.2028C>A (p.Tyr676Ter) c.1431C>A (p.Tyr477Ter) c.2136C>A (p.Tyr712Ter) c.2109C>A (p.Tyr703Ter) | |
| 21 | g.37512354C= | CA2388506687 | DYRK1A | c.*491C= (n.*491C=) c.2115C= (p.Tyr705=) c.2088C= (p.Tyr696=) n.1530C= c.2001C= (p.Tyr667=) c.*400C= (n.*400C=) c.2028C= (p.Tyr676=) c.1431C= (p.Tyr477=) c.2136C= (p.Tyr712=) c.2109C= (p.Tyr703=) | |
| 21 | g.37512354C>G | CA409940776 | DYRK1A | c.*491C>G (n.*491C>G) c.2115C>G (p.Tyr705Ter) c.2088C>G (p.Tyr696Ter) n.1530C>G c.2001C>G (p.Tyr667Ter) c.*400C>G (n.*400C>G) c.2028C>G (p.Tyr676Ter) c.1431C>G (p.Tyr477Ter) c.2136C>G (p.Tyr712Ter) c.2109C>G (p.Tyr703Ter) | |
| 21 | g.37512354C>T | CA512328212 | DYRK1A | c.*491C>T (n.*491C>T) c.2115C>T (p.Tyr705=) c.2088C>T (p.Tyr696=) n.1530C>T c.2001C>T (p.Tyr667=) c.*400C>T (n.*400C>T) c.2028C>T (p.Tyr676=) c.1431C>T (p.Tyr477=) c.2136C>T (p.Tyr712=) c.2109C>T (p.Tyr703=) | ClinVar dbSNP |
| 21 | g.37512355T>A | CA409940784 | DYRK1A | c.*492T>A (n.*492T>A) c.2116T>A (p.Ser706Thr) c.2089T>A (p.Ser697Thr) n.1531T>A c.2002T>A (p.Ser668Thr) c.*401T>A (n.*401T>A) c.2029T>A (p.Ser677Thr) c.1432T>A (p.Ser478Thr) c.2137T>A (p.Ser713Thr) c.2110T>A (p.Ser704Thr) | |
| 21 | g.37512355T>C | CA409940785 | DYRK1A | c.*492T>C (n.*492T>C) c.2116T>C (p.Ser706Pro) c.2089T>C (p.Ser697Pro) n.1531T>C c.2002T>C (p.Ser668Pro) c.*401T>C (n.*401T>C) c.2029T>C (p.Ser677Pro) c.1432T>C (p.Ser478Pro) c.2137T>C (p.Ser713Pro) c.2110T>C (p.Ser704Pro) | ClinVar |
| 21 | g.37512355T>G | CA409940781 | DYRK1A | c.*492T>G (n.*492T>G) c.2116T>G (p.Ser706Ala) c.2089T>G (p.Ser697Ala) n.1531T>G c.2002T>G (p.Ser668Ala) c.*401T>G (n.*401T>G) c.2029T>G (p.Ser677Ala) c.1432T>G (p.Ser478Ala) c.2137T>G (p.Ser713Ala) c.2110T>G (p.Ser704Ala) | |
| 21 | g.37512356C>A | CA409940792 | DYRK1A | c.*493C>A (n.*493C>A) c.2117C>A (p.Ser706Tyr) c.2090C>A (p.Ser697Tyr) n.1532C>A c.2003C>A (p.Ser668Tyr) c.*402C>A (n.*402C>A) c.2030C>A (p.Ser677Tyr) c.1433C>A (p.Ser478Tyr) c.2138C>A (p.Ser713Tyr) c.2111C>A (p.Ser704Tyr) | |
| 21 | g.37512356C>G | CA409940794 | DYRK1A | c.*493C>G (n.*493C>G) c.2117C>G (p.Ser706Cys) c.2090C>G (p.Ser697Cys) n.1532C>G c.2003C>G (p.Ser668Cys) c.*402C>G (n.*402C>G) c.2030C>G (p.Ser677Cys) c.1433C>G (p.Ser478Cys) c.2138C>G (p.Ser713Cys) c.2111C>G (p.Ser704Cys) | |
| 21 | g.37512356C>T | CA409940795 | DYRK1A | c.*493C>T (n.*493C>T) c.2117C>T (p.Ser706Phe) c.2090C>T (p.Ser697Phe) n.1532C>T c.2003C>T (p.Ser668Phe) c.*402C>T (n.*402C>T) c.2030C>T (p.Ser677Phe) c.1433C>T (p.Ser478Phe) c.2138C>T (p.Ser713Phe) c.2111C>T (p.Ser704Phe) | |
| 21 | g.37512357C>A | CA512328224 | DYRK1A | c.*494C>A (n.*494C>A) c.2118C>A (p.Ser706=) c.2091C>A (p.Ser697=) n.1533C>A c.2004C>A (p.Ser668=) c.*403C>A (n.*403C>A) c.2031C>A (p.Ser677=) c.1434C>A (p.Ser478=) c.2139C>A (p.Ser713=) c.2112C>A (p.Ser704=) | |
| 21 | g.37512357C>G | CA512328222 | DYRK1A | c.*494C>G (n.*494C>G) c.2118C>G (p.Ser706=) c.2091C>G (p.Ser697=) n.1533C>G c.2004C>G (p.Ser668=) c.*403C>G (n.*403C>G) c.2031C>G (p.Ser677=) c.1434C>G (p.Ser478=) c.2139C>G (p.Ser713=) c.2112C>G (p.Ser704=) | |
| 21 | g.37512357C>T | CA512328223 | DYRK1A | c.*494C>T (n.*494C>T) c.2118C>T (p.Ser706=) c.2091C>T (p.Ser697=) n.1533C>T c.2004C>T (p.Ser668=) c.*403C>T (n.*403C>T) c.2031C>T (p.Ser677=) c.1434C>T (p.Ser478=) c.2139C>T (p.Ser713=) c.2112C>T (p.Ser704=) | gnomAD v4 |
| 21 | g.37512358A>C | CA409940797 | DYRK1A | c.*495A>C (n.*495A>C) c.2119A>C (p.Asn707His) c.2092A>C (p.Asn698His) n.1534A>C c.2005A>C (p.Asn669His) c.*404A>C (n.*404A>C) c.2032A>C (p.Asn678His) c.1435A>C (p.Asn479His) c.2140A>C (p.Asn714His) c.2113A>C (p.Asn705His) | gnomAD v4 |
| 21 | g.37512358A>G | CA409940800 | DYRK1A | c.*495A>G (n.*495A>G) c.2119A>G (p.Asn707Asp) c.2092A>G (p.Asn698Asp) n.1534A>G c.2005A>G (p.Asn669Asp) c.*404A>G (n.*404A>G) c.2032A>G (p.Asn678Asp) c.1435A>G (p.Asn479Asp) c.2140A>G (p.Asn714Asp) c.2113A>G (p.Asn705Asp) | |
| 21 | g.37512358A>T | CA409940803 | DYRK1A | c.*495A>T (n.*495A>T) c.2119A>T (p.Asn707Tyr) c.2092A>T (p.Asn698Tyr) n.1534A>T c.2005A>T (p.Asn669Tyr) c.*404A>T (n.*404A>T) c.2032A>T (p.Asn678Tyr) c.1435A>T (p.Asn479Tyr) c.2140A>T (p.Asn714Tyr) c.2113A>T (p.Asn705Tyr) | |
| 21 | g.37512359A= | CA2388506688 | DYRK1A | c.*496A= (n.*496A=) c.2120A= (p.Asn707=) c.2093A= (p.Asn698=) n.1535A= c.2006A= (p.Asn669=) c.*405A= (n.*405A=) c.2033A= (p.Asn678=) c.1436A= (p.Asn479=) c.2141A= (p.Asn714=) c.2114A= (p.Asn705=) | |
| 21 | g.37512359A>C | CA409940815 | DYRK1A | c.*496A>C (n.*496A>C) c.2120A>C (p.Asn707Thr) c.2093A>C (p.Asn698Thr) n.1535A>C c.2006A>C (p.Asn669Thr) c.*405A>C (n.*405A>C) c.2033A>C (p.Asn678Thr) c.1436A>C (p.Asn479Thr) c.2141A>C (p.Asn714Thr) c.2114A>C (p.Asn705Thr) | |
| 21 | g.37512359A>G | CA10024163 | DYRK1A | c.*496A>G (n.*496A>G) c.2120A>G (p.Asn707Ser) c.2093A>G (p.Asn698Ser) n.1535A>G c.2006A>G (p.Asn669Ser) c.*405A>G (n.*405A>G) c.2033A>G (p.Asn678Ser) c.1436A>G (p.Asn479Ser) c.2141A>G (p.Asn714Ser) c.2114A>G (p.Asn705Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37512359A>T | CA409940812 | DYRK1A | c.*496A>T (n.*496A>T) c.2120A>T (p.Asn707Ile) c.2093A>T (p.Asn698Ile) n.1535A>T c.2006A>T (p.Asn669Ile) c.*405A>T (n.*405A>T) c.2033A>T (p.Asn678Ile) c.1436A>T (p.Asn479Ile) c.2141A>T (p.Asn714Ile) c.2114A>T (p.Asn705Ile) | gnomAD v4 |
| 21 | g.37512360T>A | CA409940821 | DYRK1A | c.*497T>A (n.*497T>A) c.2121T>A (p.Asn707Lys) c.2094T>A (p.Asn698Lys) n.1536T>A c.2007T>A (p.Asn669Lys) c.*406T>A (n.*406T>A) c.2034T>A (p.Asn678Lys) c.1437T>A (p.Asn479Lys) c.2142T>A (p.Asn714Lys) c.2115T>A (p.Asn705Lys) | |
| 21 | g.37512360T>C | CA512328227 | DYRK1A | c.*497T>C (n.*497T>C) c.2121T>C (p.Asn707=) c.2094T>C (p.Asn698=) n.1536T>C c.2007T>C (p.Asn669=) c.*406T>C (n.*406T>C) c.2034T>C (p.Asn678=) c.1437T>C (p.Asn479=) c.2142T>C (p.Asn714=) c.2115T>C (p.Asn705=) | dbSNP gnomAD v4 |
| 21 | g.37512360T>G | CA10024164 | DYRK1A | c.*497T>G (n.*497T>G) c.2121T>G (p.Asn707Lys) c.2094T>G (p.Asn698Lys) n.1536T>G c.2007T>G (p.Asn669Lys) c.*406T>G (n.*406T>G) c.2034T>G (p.Asn678Lys) c.1437T>G (p.Asn479Lys) c.2142T>G (p.Asn714Lys) c.2115T>G (p.Asn705Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37512360T= | CA2388506689 | DYRK1A | c.*497T= (n.*497T=) c.2121T= (p.Asn707=) c.2094T= (p.Asn698=) n.1536T= c.2007T= (p.Asn669=) c.*406T= (n.*406T=) c.2034T= (p.Asn678=) c.1437T= (p.Asn479=) c.2142T= (p.Asn714=) c.2115T= (p.Asn705=) | |
| 21 | g.37512361C>A | CA10024165 | DYRK1A | c.*498C>A (n.*498C>A) c.2122C>A (p.Pro708Thr) c.2095C>A (p.Pro699Thr) n.1537C>A c.2008C>A (p.Pro670Thr) c.*407C>A (n.*407C>A) c.2035C>A (p.Pro679Thr) c.1438C>A (p.Pro480Thr) c.2143C>A (p.Pro715Thr) c.2116C>A (p.Pro706Thr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 21 | g.37512361C= | CA2388506690 | DYRK1A | c.*498C= (n.*498C=) c.2122C= (p.Pro708=) c.2095C= (p.Pro699=) n.1537C= c.2008C= (p.Pro670=) c.*407C= (n.*407C=) c.2035C= (p.Pro679=) c.1438C= (p.Pro480=) c.2143C= (p.Pro715=) c.2116C= (p.Pro706=) | |
| 21 | g.37512361C>G | CA409940828 | DYRK1A | c.*498C>G (n.*498C>G) c.2122C>G (p.Pro708Ala) c.2095C>G (p.Pro699Ala) n.1537C>G c.2008C>G (p.Pro670Ala) c.*407C>G (n.*407C>G) c.2035C>G (p.Pro679Ala) c.1438C>G (p.Pro480Ala) c.2143C>G (p.Pro715Ala) c.2116C>G (p.Pro706Ala) | |
| 21 | g.37512361C>T | CA409940830 | DYRK1A | c.*498C>T (n.*498C>T) c.2122C>T (p.Pro708Ser) c.2095C>T (p.Pro699Ser) n.1537C>T c.2008C>T (p.Pro670Ser) c.*407C>T (n.*407C>T) c.2035C>T (p.Pro679Ser) c.1438C>T (p.Pro480Ser) c.2143C>T (p.Pro715Ser) c.2116C>T (p.Pro706Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.37512362C>A | CA320469980 | DYRK1A | c.*499C>A (n.*499C>A) c.2123C>A (p.Pro708His) c.2096C>A (p.Pro699His) n.1538C>A c.2009C>A (p.Pro670His) c.*408C>A (n.*408C>A) c.2036C>A (p.Pro679His) c.1439C>A (p.Pro480His) c.2144C>A (p.Pro715His) c.2117C>A (p.Pro706His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.37512362C= | CA2388506691 | DYRK1A | c.*499C= (n.*499C=) c.2123C= (p.Pro708=) c.2096C= (p.Pro699=) n.1538C= c.2009C= (p.Pro670=) c.*408C= (n.*408C=) c.2036C= (p.Pro679=) c.1439C= (p.Pro480=) c.2144C= (p.Pro715=) c.2117C= (p.Pro706=) | |
| 21 | g.37512362C>G | CA409940844 | DYRK1A | c.*499C>G (n.*499C>G) c.2123C>G (p.Pro708Arg) c.2096C>G (p.Pro699Arg) n.1538C>G c.2009C>G (p.Pro670Arg) c.*408C>G (n.*408C>G) c.2036C>G (p.Pro679Arg) c.1439C>G (p.Pro480Arg) c.2144C>G (p.Pro715Arg) c.2117C>G (p.Pro706Arg) | |
| 21 | g.37512362C>T | CA409940842 | DYRK1A | c.*499C>T (n.*499C>T) c.2123C>T (p.Pro708Leu) c.2096C>T (p.Pro699Leu) n.1538C>T c.2009C>T (p.Pro670Leu) c.*408C>T (n.*408C>T) c.2036C>T (p.Pro679Leu) c.1439C>T (p.Pro480Leu) c.2144C>T (p.Pro715Leu) c.2117C>T (p.Pro706Leu) | |
| 21 | g.37512363C>A | CA512328233 | DYRK1A | c.*500C>A (n.*500C>A) c.2124C>A (p.Pro708=) c.2097C>A (p.Pro699=) n.1539C>A c.2010C>A (p.Pro670=) c.*409C>A (n.*409C>A) c.2037C>A (p.Pro679=) c.1440C>A (p.Pro480=) c.2145C>A (p.Pro715=) c.2118C>A (p.Pro706=) | |
| 21 | g.37512363C>G | CA512328234 | DYRK1A | c.*500C>G (n.*500C>G) c.2124C>G (p.Pro708=) c.2097C>G (p.Pro699=) n.1539C>G c.2010C>G (p.Pro670=) c.*409C>G (n.*409C>G) c.2037C>G (p.Pro679=) c.1440C>G (p.Pro480=) c.2145C>G (p.Pro715=) c.2118C>G (p.Pro706=) | |
| 21 | g.37512363C>T | CA512328235 | DYRK1A | c.*500C>T (n.*500C>T) c.2124C>T (p.Pro708=) c.2097C>T (p.Pro699=) n.1539C>T c.2010C>T (p.Pro670=) c.*409C>T (n.*409C>T) c.2037C>T (p.Pro679=) c.1440C>T (p.Pro480=) c.2145C>T (p.Pro715=) c.2118C>T (p.Pro706=) | gnomAD v4 |
| 21 | g.37512364C>A | CA409940849 | DYRK1A | c.*501C>A (n.*501C>A) c.2125C>A (p.Arg709Ser) c.2098C>A (p.Arg700Ser) n.1540C>A c.2011C>A (p.Arg671Ser) c.*410C>A (n.*410C>A) c.2038C>A (p.Arg680Ser) c.1441C>A (p.Arg481Ser) c.2146C>A (p.Arg716Ser) c.2119C>A (p.Arg707Ser) | |
| 21 | g.37512364C= | CA2388506692 | DYRK1A | c.*501C= (n.*501C=) c.2125C= (p.Arg709=) c.2098C= (p.Arg700=) n.1540C= c.2011C= (p.Arg671=) c.*410C= (n.*410C=) c.2038C= (p.Arg680=) c.1441C= (p.Arg481=) c.2146C= (p.Arg716=) c.2119C= (p.Arg707=) | |
| 21 | g.37512364C>G | CA409940853 | DYRK1A | c.*501C>G (n.*501C>G) c.2125C>G (p.Arg709Gly) c.2098C>G (p.Arg700Gly) n.1540C>G c.2011C>G (p.Arg671Gly) c.*410C>G (n.*410C>G) c.2038C>G (p.Arg680Gly) c.1441C>G (p.Arg481Gly) c.2146C>G (p.Arg716Gly) c.2119C>G (p.Arg707Gly) | gnomAD v4 |
| 21 | g.37512364C>T | CA10024166 | DYRK1A | c.*501C>T (n.*501C>T) c.2125C>T (p.Arg709Cys) c.2098C>T (p.Arg700Cys) n.1540C>T c.2011C>T (p.Arg671Cys) c.*410C>T (n.*410C>T) c.2038C>T (p.Arg680Cys) c.1441C>T (p.Arg481Cys) c.2146C>T (p.Arg716Cys) c.2119C>T (p.Arg707Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37512365G>A | CA10024167 | DYRK1A | c.*502G>A (n.*502G>A) c.2126G>A (p.Arg709His) c.2099G>A (p.Arg700His) n.1541G>A c.2012G>A (p.Arg671His) c.*411G>A (n.*411G>A) c.2039G>A (p.Arg680His) c.1442G>A (p.Arg481His) c.2147G>A (p.Arg716His) c.2120G>A (p.Arg707His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37512365G>C | CA409940866 | DYRK1A | c.*502G>C (n.*502G>C) c.2126G>C (p.Arg709Pro) c.2099G>C (p.Arg700Pro) n.1541G>C c.2012G>C (p.Arg671Pro) c.*411G>C (n.*411G>C) c.2039G>C (p.Arg680Pro) c.1442G>C (p.Arg481Pro) c.2147G>C (p.Arg716Pro) c.2120G>C (p.Arg707Pro) | |
| 21 | g.37512365G= | CA2388506693 | DYRK1A | c.*502G= (n.*502G=) c.2126G= (p.Arg709=) c.2099G= (p.Arg700=) n.1541G= c.2012G= (p.Arg671=) c.*411G= (n.*411G=) c.2039G= (p.Arg680=) c.1442G= (p.Arg481=) c.2147G= (p.Arg716=) c.2120G= (p.Arg707=) | |
| 21 | g.37512365G>T | CA409940862 | DYRK1A | c.*502G>T (n.*502G>T) c.2126G>T (p.Arg709Leu) c.2099G>T (p.Arg700Leu) n.1541G>T c.2012G>T (p.Arg671Leu) c.*411G>T (n.*411G>T) c.2039G>T (p.Arg680Leu) c.1442G>T (p.Arg481Leu) c.2147G>T (p.Arg716Leu) c.2120G>T (p.Arg707Leu) |