Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.37512287G>A | CA409940292 | DYRK1A | c.*424G>A (n.*424G>A) c.2048G>A (p.Arg683His) c.2021G>A (p.Arg674His) n.1463G>A c.1934G>A (p.Arg645His) c.*333G>A (n.*333G>A) c.1961G>A (p.Arg654His) c.1364G>A (p.Arg455His) c.2069G>A (p.Arg690His) c.2042G>A (p.Arg681His) | ClinVar dbSNP gnomAD v4 COSMIC |
21 | g.37512287G>C | CA409940289 | DYRK1A | c.*424G>C (n.*424G>C) c.2048G>C (p.Arg683Pro) c.2021G>C (p.Arg674Pro) n.1463G>C c.1934G>C (p.Arg645Pro) c.*333G>C (n.*333G>C) c.1961G>C (p.Arg654Pro) c.1364G>C (p.Arg455Pro) c.2069G>C (p.Arg690Pro) c.2042G>C (p.Arg681Pro) | |
21 | g.37512287G= | CA2388506657 | DYRK1A | c.*424G= (n.*424G=) c.2048G= (p.Arg683=) c.2021G= (p.Arg674=) n.1463G= c.1934G= (p.Arg645=) c.*333G= (n.*333G=) c.1961G= (p.Arg654=) c.1364G= (p.Arg455=) c.2069G= (p.Arg690=) c.2042G= (p.Arg681=) | |
21 | g.37512287G>T | CA409940287 | DYRK1A | c.*424G>T (n.*424G>T) c.2048G>T (p.Arg683Leu) c.2021G>T (p.Arg674Leu) n.1463G>T c.1934G>T (p.Arg645Leu) c.*333G>T (n.*333G>T) c.1961G>T (p.Arg654Leu) c.1364G>T (p.Arg455Leu) c.2069G>T (p.Arg690Leu) c.2042G>T (p.Arg681Leu) | |
21 | g.37512288C>A | CA512328152 | DYRK1A | c.*425C>A (n.*425C>A) c.2049C>A (p.Arg683=) c.2022C>A (p.Arg674=) n.1464C>A c.1935C>A (p.Arg645=) c.*334C>A (n.*334C>A) c.1962C>A (p.Arg654=) c.1365C>A (p.Arg455=) c.2070C>A (p.Arg690=) c.2043C>A (p.Arg681=) | ClinVar |
21 | g.37512288C>G | CA512328153 | DYRK1A | c.*425C>G (n.*425C>G) c.2049C>G (p.Arg683=) c.2022C>G (p.Arg674=) n.1464C>G c.1935C>G (p.Arg645=) c.*334C>G (n.*334C>G) c.1962C>G (p.Arg654=) c.1365C>G (p.Arg455=) c.2070C>G (p.Arg690=) c.2043C>G (p.Arg681=) | |
21 | g.37512288C>T | CA512328154 | DYRK1A | c.*425C>T (n.*425C>T) c.2049C>T (p.Arg683=) c.2022C>T (p.Arg674=) n.1464C>T c.1935C>T (p.Arg645=) c.*334C>T (n.*334C>T) c.1962C>T (p.Arg654=) c.1365C>T (p.Arg455=) c.2070C>T (p.Arg690=) c.2043C>T (p.Arg681=) | |
21 | g.37512289C>A | CA409940295 | DYRK1A | c.*426C>A (n.*426C>A) c.2050C>A (p.Pro684Thr) c.2023C>A (p.Pro675Thr) n.1465C>A c.1936C>A (p.Pro646Thr) c.*335C>A (n.*335C>A) c.1963C>A (p.Pro655Thr) c.1366C>A (p.Pro456Thr) c.2071C>A (p.Pro691Thr) c.2044C>A (p.Pro682Thr) | |
21 | g.37512289C= | CA2388506658 | DYRK1A | c.*426C= (n.*426C=) c.2050C= (p.Pro684=) c.2023C= (p.Pro675=) n.1465C= c.1936C= (p.Pro646=) c.*335C= (n.*335C=) c.1963C= (p.Pro655=) c.1366C= (p.Pro456=) c.2071C= (p.Pro691=) c.2044C= (p.Pro682=) | |
21 | g.37512289C>G | CA409940298 | DYRK1A | c.*426C>G (n.*426C>G) c.2050C>G (p.Pro684Ala) c.2023C>G (p.Pro675Ala) n.1465C>G c.1936C>G (p.Pro646Ala) c.*335C>G (n.*335C>G) c.1963C>G (p.Pro655Ala) c.1366C>G (p.Pro456Ala) c.2071C>G (p.Pro691Ala) c.2044C>G (p.Pro682Ala) | |
21 | g.37512289C>T | CA10024151 | DYRK1A | c.*426C>T (n.*426C>T) c.2050C>T (p.Pro684Ser) c.2023C>T (p.Pro675Ser) n.1465C>T c.1936C>T (p.Pro646Ser) c.*335C>T (n.*335C>T) c.1963C>T (p.Pro655Ser) c.1366C>T (p.Pro456Ser) c.2071C>T (p.Pro691Ser) c.2044C>T (p.Pro682Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37512290C>A | CA409940302 | DYRK1A | c.*427C>A (n.*427C>A) c.2051C>A (p.Pro684Gln) c.2024C>A (p.Pro675Gln) n.1466C>A c.1937C>A (p.Pro646Gln) c.*336C>A (n.*336C>A) c.1964C>A (p.Pro655Gln) c.1367C>A (p.Pro456Gln) c.2072C>A (p.Pro691Gln) c.2045C>A (p.Pro682Gln) | |
21 | g.37512290C= | CA2388506659 | DYRK1A | c.*427C= (n.*427C=) c.2051C= (p.Pro684=) c.2024C= (p.Pro675=) n.1466C= c.1937C= (p.Pro646=) c.*336C= (n.*336C=) c.1964C= (p.Pro655=) c.1367C= (p.Pro456=) c.2072C= (p.Pro691=) c.2045C= (p.Pro682=) | |
21 | g.37512290C>G | CA409940304 | DYRK1A | c.*427C>G (n.*427C>G) c.2051C>G (p.Pro684Arg) c.2024C>G (p.Pro675Arg) n.1466C>G c.1937C>G (p.Pro646Arg) c.*336C>G (n.*336C>G) c.1964C>G (p.Pro655Arg) c.1367C>G (p.Pro456Arg) c.2072C>G (p.Pro691Arg) c.2045C>G (p.Pro682Arg) | dbSNP |
21 | g.37512290C>T | CA409940306 | DYRK1A | c.*427C>T (n.*427C>T) c.2051C>T (p.Pro684Leu) c.2024C>T (p.Pro675Leu) n.1466C>T c.1937C>T (p.Pro646Leu) c.*336C>T (n.*336C>T) c.1964C>T (p.Pro655Leu) c.1367C>T (p.Pro456Leu) c.2072C>T (p.Pro691Leu) c.2045C>T (p.Pro682Leu) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.37512291A>C | CA512328155 | DYRK1A | c.*428A>C (n.*428A>C) c.2052A>C (p.Pro684=) c.2025A>C (p.Pro675=) n.1467A>C c.1938A>C (p.Pro646=) c.*337A>C (n.*337A>C) c.1965A>C (p.Pro655=) c.1368A>C (p.Pro456=) c.2073A>C (p.Pro691=) c.2046A>C (p.Pro682=) | gnomAD v4 |
21 | g.37512291A>G | CA512328156 | DYRK1A | c.*428A>G (n.*428A>G) c.2052A>G (p.Pro684=) c.2025A>G (p.Pro675=) n.1467A>G c.1938A>G (p.Pro646=) c.*337A>G (n.*337A>G) c.1965A>G (p.Pro655=) c.1368A>G (p.Pro456=) c.2073A>G (p.Pro691=) c.2046A>G (p.Pro682=) | gnomAD v4 |
21 | g.37512291A>T | CA512328157 | DYRK1A | c.*428A>T (n.*428A>T) c.2052A>T (p.Pro684=) c.2025A>T (p.Pro675=) n.1467A>T c.1938A>T (p.Pro646=) c.*337A>T (n.*337A>T) c.1965A>T (p.Pro655=) c.1368A>T (p.Pro456=) c.2073A>T (p.Pro691=) c.2046A>T (p.Pro682=) | |
21 | g.37512292G>A | CA409940314 | DYRK1A | c.*429G>A (n.*429G>A) c.2053G>A (p.Val685Met) c.2026G>A (p.Val676Met) n.1468G>A c.1939G>A (p.Val647Met) c.*338G>A (n.*338G>A) c.1966G>A (p.Val656Met) c.1369G>A (p.Val457Met) c.2074G>A (p.Val692Met) c.2047G>A (p.Val683Met) | |
21 | g.37512292G>C | CA409940309 | DYRK1A | c.*429G>C (n.*429G>C) c.2053G>C (p.Val685Leu) c.2026G>C (p.Val676Leu) n.1468G>C c.1939G>C (p.Val647Leu) c.*338G>C (n.*338G>C) c.1966G>C (p.Val656Leu) c.1369G>C (p.Val457Leu) c.2074G>C (p.Val692Leu) c.2047G>C (p.Val683Leu) | gnomAD v4 |
21 | g.37512292G>T | CA409940312 | DYRK1A | c.*429G>T (n.*429G>T) c.2053G>T (p.Val685Leu) c.2026G>T (p.Val676Leu) n.1468G>T c.1939G>T (p.Val647Leu) c.*338G>T (n.*338G>T) c.1966G>T (p.Val656Leu) c.1369G>T (p.Val457Leu) c.2074G>T (p.Val692Leu) c.2047G>T (p.Val683Leu) | |
21 | g.37512293T>A | CA409940317 | DYRK1A | c.*430T>A (n.*430T>A) c.2054T>A (p.Val685Glu) c.2027T>A (p.Val676Glu) n.1469T>A c.1940T>A (p.Val647Glu) c.*339T>A (n.*339T>A) c.1967T>A (p.Val656Glu) c.1370T>A (p.Val457Glu) c.2075T>A (p.Val692Glu) c.2048T>A (p.Val683Glu) | ClinVar gnomAD v4 |
21 | g.37512293T>C | CA409940319 | DYRK1A | c.*430T>C (n.*430T>C) c.2054T>C (p.Val685Ala) c.2027T>C (p.Val676Ala) n.1469T>C c.1940T>C (p.Val647Ala) c.*339T>C (n.*339T>C) c.1967T>C (p.Val656Ala) c.1370T>C (p.Val457Ala) c.2075T>C (p.Val692Ala) c.2048T>C (p.Val683Ala) | |
21 | g.37512293T>G | CA409940321 | DYRK1A | c.*430T>G (n.*430T>G) c.2054T>G (p.Val685Gly) c.2027T>G (p.Val676Gly) n.1469T>G c.1940T>G (p.Val647Gly) c.*339T>G (n.*339T>G) c.1967T>G (p.Val656Gly) c.1370T>G (p.Val457Gly) c.2075T>G (p.Val692Gly) c.2048T>G (p.Val683Gly) | |
21 | g.37512294G>A | CA512328158 | DYRK1A | c.*431G>A (n.*431G>A) c.2055G>A (p.Val685=) c.2028G>A (p.Val676=) n.1470G>A c.1941G>A (p.Val647=) c.*340G>A (n.*340G>A) c.1968G>A (p.Val656=) c.1371G>A (p.Val457=) c.2076G>A (p.Val692=) c.2049G>A (p.Val683=) | |
21 | g.37512294G>C | CA512328160 | DYRK1A | c.*431G>C (n.*431G>C) c.2055G>C (p.Val685=) c.2028G>C (p.Val676=) n.1470G>C c.1941G>C (p.Val647=) c.*340G>C (n.*340G>C) c.1968G>C (p.Val656=) c.1371G>C (p.Val457=) c.2076G>C (p.Val692=) c.2049G>C (p.Val683=) | |
21 | g.37512294G>T | CA512328159 | DYRK1A | c.*431G>T (n.*431G>T) c.2055G>T (p.Val685=) c.2028G>T (p.Val676=) n.1470G>T c.1941G>T (p.Val647=) c.*340G>T (n.*340G>T) c.1968G>T (p.Val656=) c.1371G>T (p.Val457=) c.2076G>T (p.Val692=) c.2049G>T (p.Val683=) | |
21 | g.37512295G>A | CA320469902 | DYRK1A | c.*432G>A (n.*432G>A) c.2056G>A (p.Ala686Thr) c.2029G>A (p.Ala677Thr) n.1471G>A c.1942G>A (p.Ala648Thr) c.*341G>A (n.*341G>A) c.1969G>A (p.Ala657Thr) c.1372G>A (p.Ala458Thr) c.2077G>A (p.Ala693Thr) c.2050G>A (p.Ala684Thr) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.37512295G>C | CA409940325 | DYRK1A | c.*432G>C (n.*432G>C) c.2056G>C (p.Ala686Pro) c.2029G>C (p.Ala677Pro) n.1471G>C c.1942G>C (p.Ala648Pro) c.*341G>C (n.*341G>C) c.1969G>C (p.Ala657Pro) c.1372G>C (p.Ala458Pro) c.2077G>C (p.Ala693Pro) c.2050G>C (p.Ala684Pro) | |
21 | g.37512295G= | CA2388506660 | DYRK1A | c.*432G= (n.*432G=) c.2056G= (p.Ala686=) c.2029G= (p.Ala677=) n.1471G= c.1942G= (p.Ala648=) c.*341G= (n.*341G=) c.1969G= (p.Ala657=) c.1372G= (p.Ala458=) c.2077G= (p.Ala693=) c.2050G= (p.Ala684=) | |
21 | g.37512295G>T | CA409940327 | DYRK1A | c.*432G>T (n.*432G>T) c.2056G>T (p.Ala686Ser) c.2029G>T (p.Ala677Ser) n.1471G>T c.1942G>T (p.Ala648Ser) c.*341G>T (n.*341G>T) c.1969G>T (p.Ala657Ser) c.1372G>T (p.Ala458Ser) c.2077G>T (p.Ala693Ser) c.2050G>T (p.Ala684Ser) | ClinVar dbSNP |
21 | g.37512298_37512300del | CA2654483613 | DYRK1A | c.*435_*437del (n.*435_*437del) c.2059_2061del (p.Ala687del) c.2032_2034del (p.Ala678del) n.1474_1476del c.1945_1947del (p.Ala649del) c.*344_*346del (n.*344_*346del) c.1972_1974del (p.Ala658del) c.1375_1377del (p.Ala459del) c.2080_2082del (p.Ala694del) c.2053_2055del (p.Ala685del) | gnomAD v4 |
21 | g.37512296C>A | CA409940332 | DYRK1A | c.*433C>A (n.*433C>A) c.2057C>A (p.Ala686Asp) c.2030C>A (p.Ala677Asp) n.1472C>A c.1943C>A (p.Ala648Asp) c.*342C>A (n.*342C>A) c.1970C>A (p.Ala657Asp) c.1373C>A (p.Ala458Asp) c.2078C>A (p.Ala693Asp) c.2051C>A (p.Ala684Asp) | |
21 | g.37512296C>G | CA409940334 | DYRK1A | c.*433C>G (n.*433C>G) c.2057C>G (p.Ala686Gly) c.2030C>G (p.Ala677Gly) n.1472C>G c.1943C>G (p.Ala648Gly) c.*342C>G (n.*342C>G) c.1970C>G (p.Ala657Gly) c.1373C>G (p.Ala458Gly) c.2078C>G (p.Ala693Gly) c.2051C>G (p.Ala684Gly) | |
21 | g.37512296C>T | CA409940336 | DYRK1A | c.*433C>T (n.*433C>T) c.2057C>T (p.Ala686Val) c.2030C>T (p.Ala677Val) n.1472C>T c.1943C>T (p.Ala648Val) c.*342C>T (n.*342C>T) c.1970C>T (p.Ala657Val) c.1373C>T (p.Ala458Val) c.2078C>T (p.Ala693Val) c.2051C>T (p.Ala684Val) | |
21 | g.37512297T>A | CA512328163 | DYRK1A | c.*434T>A (n.*434T>A) c.2058T>A (p.Ala686=) c.2031T>A (p.Ala677=) n.1473T>A c.1944T>A (p.Ala648=) c.*343T>A (n.*343T>A) c.1971T>A (p.Ala657=) c.1374T>A (p.Ala458=) c.2079T>A (p.Ala693=) c.2052T>A (p.Ala684=) | |
21 | g.37512297T>C | CA512328164 | DYRK1A | c.*434T>C (n.*434T>C) c.2058T>C (p.Ala686=) c.2031T>C (p.Ala677=) n.1473T>C c.1944T>C (p.Ala648=) c.*343T>C (n.*343T>C) c.1971T>C (p.Ala657=) c.1374T>C (p.Ala458=) c.2079T>C (p.Ala693=) c.2052T>C (p.Ala684=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37512297T>G | CA512328166 | DYRK1A | c.*434T>G (n.*434T>G) c.2058T>G (p.Ala686=) c.2031T>G (p.Ala677=) n.1473T>G c.1944T>G (p.Ala648=) c.*343T>G (n.*343T>G) c.1971T>G (p.Ala657=) c.1374T>G (p.Ala458=) c.2079T>G (p.Ala693=) c.2052T>G (p.Ala684=) | |
21 | g.37512297T= | CA2388506661 | DYRK1A | c.*434T= (n.*434T=) c.2058T= (p.Ala686=) c.2031T= (p.Ala677=) n.1473T= c.1944T= (p.Ala648=) c.*343T= (n.*343T=) c.1971T= (p.Ala657=) c.1374T= (p.Ala458=) c.2079T= (p.Ala693=) c.2052T= (p.Ala684=) | |
21 | g.37512298G>A | CA409940339 | DYRK1A | c.*435G>A (n.*435G>A) c.2059G>A (p.Ala687Thr) c.2032G>A (p.Ala678Thr) n.1474G>A c.1945G>A (p.Ala649Thr) c.*344G>A (n.*344G>A) c.1972G>A (p.Ala658Thr) c.1375G>A (p.Ala459Thr) c.2080G>A (p.Ala694Thr) c.2053G>A (p.Ala685Thr) | |
21 | g.37512298G>C | CA409940341 | DYRK1A | c.*435G>C (n.*435G>C) c.2059G>C (p.Ala687Pro) c.2032G>C (p.Ala678Pro) n.1474G>C c.1945G>C (p.Ala649Pro) c.*344G>C (n.*344G>C) c.1972G>C (p.Ala658Pro) c.1375G>C (p.Ala459Pro) c.2080G>C (p.Ala694Pro) c.2053G>C (p.Ala685Pro) | |
21 | g.37512298G>T | CA409940343 | DYRK1A | c.*435G>T (n.*435G>T) c.2059G>T (p.Ala687Ser) c.2032G>T (p.Ala678Ser) n.1474G>T c.1945G>T (p.Ala649Ser) c.*344G>T (n.*344G>T) c.1972G>T (p.Ala658Ser) c.1375G>T (p.Ala459Ser) c.2080G>T (p.Ala694Ser) c.2053G>T (p.Ala685Ser) | |
21 | g.37512299C>A | CA409940347 | DYRK1A | c.*436C>A (n.*436C>A) c.2060C>A (p.Ala687Asp) c.2033C>A (p.Ala678Asp) n.1475C>A c.1946C>A (p.Ala649Asp) c.*345C>A (n.*345C>A) c.1973C>A (p.Ala658Asp) c.1376C>A (p.Ala459Asp) c.2081C>A (p.Ala694Asp) c.2054C>A (p.Ala685Asp) | |
21 | g.37512299C>G | CA409940351 | DYRK1A | c.*436C>G (n.*436C>G) c.2060C>G (p.Ala687Gly) c.2033C>G (p.Ala678Gly) n.1475C>G c.1946C>G (p.Ala649Gly) c.*345C>G (n.*345C>G) c.1973C>G (p.Ala658Gly) c.1376C>G (p.Ala459Gly) c.2081C>G (p.Ala694Gly) c.2054C>G (p.Ala685Gly) | gnomAD v4 |
21 | g.37512299C>T | CA409940349 | DYRK1A | c.*436C>T (n.*436C>T) c.2060C>T (p.Ala687Val) c.2033C>T (p.Ala678Val) n.1475C>T c.1946C>T (p.Ala649Val) c.*345C>T (n.*345C>T) c.1973C>T (p.Ala658Val) c.1376C>T (p.Ala459Val) c.2081C>T (p.Ala694Val) c.2054C>T (p.Ala685Val) | |
21 | g.37512300T>A | CA512328167 | DYRK1A | c.*437T>A (n.*437T>A) c.2061T>A (p.Ala687=) c.2034T>A (p.Ala678=) n.1476T>A c.1947T>A (p.Ala649=) c.*346T>A (n.*346T>A) c.1974T>A (p.Ala658=) c.1377T>A (p.Ala459=) c.2082T>A (p.Ala694=) c.2055T>A (p.Ala685=) | |
21 | g.37512300T>C | CA512328168 | DYRK1A | c.*437T>C (n.*437T>C) c.2061T>C (p.Ala687=) c.2034T>C (p.Ala678=) n.1476T>C c.1947T>C (p.Ala649=) c.*346T>C (n.*346T>C) c.1974T>C (p.Ala658=) c.1377T>C (p.Ala459=) c.2082T>C (p.Ala694=) c.2055T>C (p.Ala685=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37512300T>G | CA512328170 | DYRK1A | c.*437T>G (n.*437T>G) c.2061T>G (p.Ala687=) c.2034T>G (p.Ala678=) n.1476T>G c.1947T>G (p.Ala649=) c.*346T>G (n.*346T>G) c.1974T>G (p.Ala658=) c.1377T>G (p.Ala459=) c.2082T>G (p.Ala694=) c.2055T>G (p.Ala685=) | |
21 | g.37512300T= | CA2388506662 | DYRK1A | c.*437T= (n.*437T=) c.2061T= (p.Ala687=) c.2034T= (p.Ala678=) n.1476T= c.1947T= (p.Ala649=) c.*346T= (n.*346T=) c.1974T= (p.Ala658=) c.1377T= (p.Ala459=) c.2082T= (p.Ala694=) c.2055T= (p.Ala685=) | |
21 | g.37512301A= | CA2388506663 | DYRK1A | c.*438A= (n.*438A=) c.2062A= (p.Asn688=) c.2035A= (p.Asn679=) n.1477A= c.1948A= (p.Asn650=) c.*347A= (n.*347A=) c.1975A= (p.Asn659=) c.1378A= (p.Asn460=) c.2083A= (p.Asn695=) c.2056A= (p.Asn686=) | |
21 | g.37512301A>C | CA409940353 | DYRK1A | c.*438A>C (n.*438A>C) c.2062A>C (p.Asn688His) c.2035A>C (p.Asn679His) n.1477A>C c.1948A>C (p.Asn650His) c.*347A>C (n.*347A>C) c.1975A>C (p.Asn659His) c.1378A>C (p.Asn460His) c.2083A>C (p.Asn695His) c.2056A>C (p.Asn686His) | |
21 | g.37512301A>G | CA409940355 | DYRK1A | c.*438A>G (n.*438A>G) c.2062A>G (p.Asn688Asp) c.2035A>G (p.Asn679Asp) n.1477A>G c.1948A>G (p.Asn650Asp) c.*347A>G (n.*347A>G) c.1975A>G (p.Asn659Asp) c.1378A>G (p.Asn460Asp) c.2083A>G (p.Asn695Asp) c.2056A>G (p.Asn686Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.37512301A>T | CA409940357 | DYRK1A | c.*438A>T (n.*438A>T) c.2062A>T (p.Asn688Tyr) c.2035A>T (p.Asn679Tyr) n.1477A>T c.1948A>T (p.Asn650Tyr) c.*347A>T (n.*347A>T) c.1975A>T (p.Asn659Tyr) c.1378A>T (p.Asn460Tyr) c.2083A>T (p.Asn695Tyr) c.2056A>T (p.Asn686Tyr) | |
21 | g.37512302A>C | CA409940361 | DYRK1A | c.*439A>C (n.*439A>C) c.2063A>C (p.Asn688Thr) c.2036A>C (p.Asn679Thr) n.1478A>C c.1949A>C (p.Asn650Thr) c.*348A>C (n.*348A>C) c.1976A>C (p.Asn659Thr) c.1379A>C (p.Asn460Thr) c.2084A>C (p.Asn695Thr) c.2057A>C (p.Asn686Thr) | |
21 | g.37512302A>G | CA409940363 | DYRK1A | c.*439A>G (n.*439A>G) c.2063A>G (p.Asn688Ser) c.2036A>G (p.Asn679Ser) n.1478A>G c.1949A>G (p.Asn650Ser) c.*348A>G (n.*348A>G) c.1976A>G (p.Asn659Ser) c.1379A>G (p.Asn460Ser) c.2084A>G (p.Asn695Ser) c.2057A>G (p.Asn686Ser) | |
21 | g.37512302A>T | CA409940365 | DYRK1A | c.*439A>T (n.*439A>T) c.2063A>T (p.Asn688Ile) c.2036A>T (p.Asn679Ile) n.1478A>T c.1949A>T (p.Asn650Ile) c.*348A>T (n.*348A>T) c.1976A>T (p.Asn659Ile) c.1379A>T (p.Asn460Ile) c.2084A>T (p.Asn695Ile) c.2057A>T (p.Asn686Ile) | |
21 | g.37512303T>A | CA409940367 | DYRK1A | c.*440T>A (n.*440T>A) c.2064T>A (p.Asn688Lys) c.2037T>A (p.Asn679Lys) n.1479T>A c.1950T>A (p.Asn650Lys) c.*349T>A (n.*349T>A) c.1977T>A (p.Asn659Lys) c.1380T>A (p.Asn460Lys) c.2085T>A (p.Asn695Lys) c.2058T>A (p.Asn686Lys) | |
21 | g.37512303T>C | CA512328173 | DYRK1A | c.*440T>C (n.*440T>C) c.2064T>C (p.Asn688=) c.2037T>C (p.Asn679=) n.1479T>C c.1950T>C (p.Asn650=) c.*349T>C (n.*349T>C) c.1977T>C (p.Asn659=) c.1380T>C (p.Asn460=) c.2085T>C (p.Asn695=) c.2058T>C (p.Asn686=) | gnomAD v4 COSMIC |
21 | g.37512303T>G | CA409940368 | DYRK1A | c.*440T>G (n.*440T>G) c.2064T>G (p.Asn688Lys) c.2037T>G (p.Asn679Lys) n.1479T>G c.1950T>G (p.Asn650Lys) c.*349T>G (n.*349T>G) c.1977T>G (p.Asn659Lys) c.1380T>G (p.Asn460Lys) c.2085T>G (p.Asn695Lys) c.2058T>G (p.Asn686Lys) | |
21 | g.37512304A>C | CA409940371 | DYRK1A | c.*441A>C (n.*441A>C) c.2065A>C (p.Thr689Pro) c.2038A>C (p.Thr680Pro) n.1480A>C c.1951A>C (p.Thr651Pro) c.*350A>C (n.*350A>C) c.1978A>C (p.Thr660Pro) c.1381A>C (p.Thr461Pro) c.2086A>C (p.Thr696Pro) c.2059A>C (p.Thr687Pro) | |
21 | g.37512304A>G | CA409940373 | DYRK1A | c.*441A>G (n.*441A>G) c.2065A>G (p.Thr689Ala) c.2038A>G (p.Thr680Ala) n.1480A>G c.1951A>G (p.Thr651Ala) c.*350A>G (n.*350A>G) c.1978A>G (p.Thr660Ala) c.1381A>G (p.Thr461Ala) c.2086A>G (p.Thr696Ala) c.2059A>G (p.Thr687Ala) | |
21 | g.37512304A>T | CA409940375 | DYRK1A | c.*441A>T (n.*441A>T) c.2065A>T (p.Thr689Ser) c.2038A>T (p.Thr680Ser) n.1480A>T c.1951A>T (p.Thr651Ser) c.*350A>T (n.*350A>T) c.1978A>T (p.Thr660Ser) c.1381A>T (p.Thr461Ser) c.2086A>T (p.Thr696Ser) c.2059A>T (p.Thr687Ser) | |
21 | g.37512305C>A | CA409940383 | DYRK1A | c.*442C>A (n.*442C>A) c.2066C>A (p.Thr689Asn) c.2039C>A (p.Thr680Asn) n.1481C>A c.1952C>A (p.Thr651Asn) c.*351C>A (n.*351C>A) c.1979C>A (p.Thr660Asn) c.1382C>A (p.Thr461Asn) c.2087C>A (p.Thr696Asn) c.2060C>A (p.Thr687Asn) | |
21 | g.37512305C>G | CA409940380 | DYRK1A | c.*442C>G (n.*442C>G) c.2066C>G (p.Thr689Ser) c.2039C>G (p.Thr680Ser) n.1481C>G c.1952C>G (p.Thr651Ser) c.*351C>G (n.*351C>G) c.1979C>G (p.Thr660Ser) c.1382C>G (p.Thr461Ser) c.2087C>G (p.Thr696Ser) c.2060C>G (p.Thr687Ser) | |
21 | g.37512305C>T | CA409940378 | DYRK1A | c.*442C>T (n.*442C>T) c.2066C>T (p.Thr689Ile) c.2039C>T (p.Thr680Ile) n.1481C>T c.1952C>T (p.Thr651Ile) c.*351C>T (n.*351C>T) c.1979C>T (p.Thr660Ile) c.1382C>T (p.Thr461Ile) c.2087C>T (p.Thr696Ile) c.2060C>T (p.Thr687Ile) | |
21 | g.37512306C>A | CA512328175 | DYRK1A | c.*443C>A (n.*443C>A) c.2067C>A (p.Thr689=) c.2040C>A (p.Thr680=) n.1482C>A c.1953C>A (p.Thr651=) c.*352C>A (n.*352C>A) c.1980C>A (p.Thr660=) c.1383C>A (p.Thr461=) c.2088C>A (p.Thr696=) c.2061C>A (p.Thr687=) | |
21 | g.37512306C= | CA2388506664 | DYRK1A | c.*443C= (n.*443C=) c.2067C= (p.Thr689=) c.2040C= (p.Thr680=) n.1482C= c.1953C= (p.Thr651=) c.*352C= (n.*352C=) c.1980C= (p.Thr660=) c.1383C= (p.Thr461=) c.2088C= (p.Thr696=) c.2061C= (p.Thr687=) | |
21 | g.37512306C>G | CA512328178 | DYRK1A | c.*443C>G (n.*443C>G) c.2067C>G (p.Thr689=) c.2040C>G (p.Thr680=) n.1482C>G c.1953C>G (p.Thr651=) c.*352C>G (n.*352C>G) c.1980C>G (p.Thr660=) c.1383C>G (p.Thr461=) c.2088C>G (p.Thr696=) c.2061C>G (p.Thr687=) | gnomAD v4 |
21 | g.37512306C>T | CA512328177 | DYRK1A | c.*443C>T (n.*443C>T) c.2067C>T (p.Thr689=) c.2040C>T (p.Thr680=) n.1482C>T c.1953C>T (p.Thr651=) c.*352C>T (n.*352C>T) c.1980C>T (p.Thr660=) c.1383C>T (p.Thr461=) c.2088C>T (p.Thr696=) c.2061C>T (p.Thr687=) | ClinVar dbSNP gnomAD v4 |
21 | g.37512307T>A | CA409940385 | DYRK1A | c.*444T>A (n.*444T>A) c.2068T>A (p.Leu690Met) c.2041T>A (p.Leu681Met) n.1483T>A c.1954T>A (p.Leu652Met) c.*353T>A (n.*353T>A) c.1981T>A (p.Leu661Met) c.1384T>A (p.Leu462Met) c.2089T>A (p.Leu697Met) c.2062T>A (p.Leu688Met) | |
21 | g.37512307T>C | CA512328179 | DYRK1A | c.*444T>C (n.*444T>C) c.2068T>C (p.Leu690=) c.2041T>C (p.Leu681=) n.1483T>C c.1954T>C (p.Leu652=) c.*353T>C (n.*353T>C) c.1981T>C (p.Leu661=) c.1384T>C (p.Leu462=) c.2089T>C (p.Leu697=) c.2062T>C (p.Leu688=) | |
21 | g.37512307T>G | CA409940388 | DYRK1A | c.*444T>G (n.*444T>G) c.2068T>G (p.Leu690Val) c.2041T>G (p.Leu681Val) n.1483T>G c.1954T>G (p.Leu652Val) c.*353T>G (n.*353T>G) c.1981T>G (p.Leu661Val) c.1384T>G (p.Leu462Val) c.2089T>G (p.Leu697Val) c.2062T>G (p.Leu688Val) | |
21 | g.37512308T>A | CA409940391 | DYRK1A | c.*445T>A (n.*445T>A) c.2069T>A (p.Leu690Ter) c.2042T>A (p.Leu681Ter) n.1484T>A c.1955T>A (p.Leu652Ter) c.*354T>A (n.*354T>A) c.1982T>A (p.Leu661Ter) c.1385T>A (p.Leu462Ter) c.2090T>A (p.Leu697Ter) c.2063T>A (p.Leu688Ter) | dbSNP |
21 | g.37512308T>C | CA409940393 | DYRK1A | c.*445T>C (n.*445T>C) c.2069T>C (p.Leu690Ser) c.2042T>C (p.Leu681Ser) n.1484T>C c.1955T>C (p.Leu652Ser) c.*354T>C (n.*354T>C) c.1982T>C (p.Leu661Ser) c.1385T>C (p.Leu462Ser) c.2090T>C (p.Leu697Ser) c.2063T>C (p.Leu688Ser) | |
21 | g.37512308T>G | CA409940395 | DYRK1A | c.*445T>G (n.*445T>G) c.2069T>G (p.Leu690Trp) c.2042T>G (p.Leu681Trp) n.1484T>G c.1955T>G (p.Leu652Trp) c.*354T>G (n.*354T>G) c.1982T>G (p.Leu661Trp) c.1385T>G (p.Leu462Trp) c.2090T>G (p.Leu697Trp) c.2063T>G (p.Leu688Trp) | |
21 | g.37512308T= | CA2388506665 | DYRK1A | c.*445T= (n.*445T=) c.2069T= (p.Leu690=) c.2042T= (p.Leu681=) n.1484T= c.1955T= (p.Leu652=) c.*354T= (n.*354T=) c.1982T= (p.Leu661=) c.1385T= (p.Leu462=) c.2090T= (p.Leu697=) c.2063T= (p.Leu688=) | |
21 | g.37512309G>A | CA512328181 | DYRK1A | c.*446G>A (n.*446G>A) c.2070G>A (p.Leu690=) c.2043G>A (p.Leu681=) n.1485G>A c.1956G>A (p.Leu652=) c.*355G>A (n.*355G>A) c.1983G>A (p.Leu661=) c.1386G>A (p.Leu462=) c.2091G>A (p.Leu697=) c.2064G>A (p.Leu688=) | gnomAD v4 |
21 | g.37512309G>C | CA409940398 | DYRK1A | c.*446G>C (n.*446G>C) c.2070G>C (p.Leu690Phe) c.2043G>C (p.Leu681Phe) n.1485G>C c.1956G>C (p.Leu652Phe) c.*355G>C (n.*355G>C) c.1983G>C (p.Leu661Phe) c.1386G>C (p.Leu462Phe) c.2091G>C (p.Leu697Phe) c.2064G>C (p.Leu688Phe) | |
21 | g.37512309G>T | CA409940400 | DYRK1A | c.*446G>T (n.*446G>T) c.2070G>T (p.Leu690Phe) c.2043G>T (p.Leu681Phe) n.1485G>T c.1956G>T (p.Leu652Phe) c.*355G>T (n.*355G>T) c.1983G>T (p.Leu661Phe) c.1386G>T (p.Leu462Phe) c.2091G>T (p.Leu697Phe) c.2064G>T (p.Leu688Phe) | |
21 | g.37512310G>A | CA409940403 | DYRK1A | c.*447G>A (n.*447G>A) c.2071G>A (p.Asp691Asn) c.2044G>A (p.Asp682Asn) n.1486G>A c.1957G>A (p.Asp653Asn) c.*356G>A (n.*356G>A) c.1984G>A (p.Asp662Asn) c.1387G>A (p.Asp463Asn) c.2092G>A (p.Asp698Asn) c.2065G>A (p.Asp689Asn) | |
21 | g.37512310G>C | CA409940405 | DYRK1A | c.*447G>C (n.*447G>C) c.2071G>C (p.Asp691His) c.2044G>C (p.Asp682His) n.1486G>C c.1957G>C (p.Asp653His) c.*356G>C (n.*356G>C) c.1984G>C (p.Asp662His) c.1387G>C (p.Asp463His) c.2092G>C (p.Asp698His) c.2065G>C (p.Asp689His) | |
21 | g.37512310G>T | CA409940408 | DYRK1A | c.*447G>T (n.*447G>T) c.2071G>T (p.Asp691Tyr) c.2044G>T (p.Asp682Tyr) n.1486G>T c.1957G>T (p.Asp653Tyr) c.*356G>T (n.*356G>T) c.1984G>T (p.Asp662Tyr) c.1387G>T (p.Asp463Tyr) c.2092G>T (p.Asp698Tyr) c.2065G>T (p.Asp689Tyr) | |
21 | g.37512311A= | CA2388506666 | DYRK1A | c.*448A= (n.*448A=) c.2072A= (p.Asp691=) c.2045A= (p.Asp682=) n.1487A= c.1958A= (p.Asp653=) c.*357A= (n.*357A=) c.1985A= (p.Asp662=) c.1388A= (p.Asp463=) c.2093A= (p.Asp698=) c.2066A= (p.Asp689=) | |
21 | g.37512311A>C | CA409940410 | DYRK1A | c.*448A>C (n.*448A>C) c.2072A>C (p.Asp691Ala) c.2045A>C (p.Asp682Ala) n.1487A>C c.1958A>C (p.Asp653Ala) c.*357A>C (n.*357A>C) c.1985A>C (p.Asp662Ala) c.1388A>C (p.Asp463Ala) c.2093A>C (p.Asp698Ala) c.2066A>C (p.Asp689Ala) | |
21 | g.37512311A>G | CA10024152 | DYRK1A | c.*448A>G (n.*448A>G) c.2072A>G (p.Asp691Gly) c.2045A>G (p.Asp682Gly) n.1487A>G c.1958A>G (p.Asp653Gly) c.*357A>G (n.*357A>G) c.1985A>G (p.Asp662Gly) c.1388A>G (p.Asp463Gly) c.2093A>G (p.Asp698Gly) c.2066A>G (p.Asp689Gly) | dbSNP ExAC gnomAD v2 |
21 | g.37512311A>T | CA409940412 | DYRK1A | c.*448A>T (n.*448A>T) c.2072A>T (p.Asp691Val) c.2045A>T (p.Asp682Val) n.1487A>T c.1958A>T (p.Asp653Val) c.*357A>T (n.*357A>T) c.1985A>T (p.Asp662Val) c.1388A>T (p.Asp463Val) c.2093A>T (p.Asp698Val) c.2066A>T (p.Asp689Val) | ClinVar dbSNP |
21 | g.37512312C>A | CA409940418 | DYRK1A | c.*449C>A (n.*449C>A) c.2073C>A (p.Asp691Glu) c.2046C>A (p.Asp682Glu) n.1488C>A c.1959C>A (p.Asp653Glu) c.*358C>A (n.*358C>A) c.1986C>A (p.Asp662Glu) c.1389C>A (p.Asp463Glu) c.2094C>A (p.Asp698Glu) c.2067C>A (p.Asp689Glu) | |
21 | g.37512312C= | CA2388506667 | DYRK1A | c.*449C= (n.*449C=) c.2073C= (p.Asp691=) c.2046C= (p.Asp682=) n.1488C= c.1959C= (p.Asp653=) c.*358C= (n.*358C=) c.1986C= (p.Asp662=) c.1389C= (p.Asp463=) c.2094C= (p.Asp698=) c.2067C= (p.Asp689=) | |
21 | g.37512312C>G | CA409940415 | DYRK1A | c.*449C>G (n.*449C>G) c.2073C>G (p.Asp691Glu) c.2046C>G (p.Asp682Glu) n.1488C>G c.1959C>G (p.Asp653Glu) c.*358C>G (n.*358C>G) c.1986C>G (p.Asp662Glu) c.1389C>G (p.Asp463Glu) c.2094C>G (p.Asp698Glu) c.2067C>G (p.Asp689Glu) | ClinVar dbSNP |
21 | g.37512312C>T | CA512328183 | DYRK1A | c.*449C>T (n.*449C>T) c.2073C>T (p.Asp691=) c.2046C>T (p.Asp682=) n.1488C>T c.1959C>T (p.Asp653=) c.*358C>T (n.*358C>T) c.1986C>T (p.Asp662=) c.1389C>T (p.Asp463=) c.2094C>T (p.Asp698=) c.2067C>T (p.Asp689=) | |
21 | g.37512313T>A | CA320469914 | DYRK1A | c.*450T>A (n.*450T>A) c.2074T>A (p.Phe692Ile) c.2047T>A (p.Phe683Ile) n.1489T>A c.1960T>A (p.Phe654Ile) c.*359T>A (n.*359T>A) c.1987T>A (p.Phe663Ile) c.1390T>A (p.Phe464Ile) c.2095T>A (p.Phe699Ile) c.2068T>A (p.Phe690Ile) | dbSNP |
21 | g.37512313T>C | CA409940425 | DYRK1A | c.*450T>C (n.*450T>C) c.2074T>C (p.Phe692Leu) c.2047T>C (p.Phe683Leu) n.1489T>C c.1960T>C (p.Phe654Leu) c.*359T>C (n.*359T>C) c.1987T>C (p.Phe663Leu) c.1390T>C (p.Phe464Leu) c.2095T>C (p.Phe699Leu) c.2068T>C (p.Phe690Leu) | |
21 | g.37512313T>G | CA409940422 | DYRK1A | c.*450T>G (n.*450T>G) c.2074T>G (p.Phe692Val) c.2047T>G (p.Phe683Val) n.1489T>G c.1960T>G (p.Phe654Val) c.*359T>G (n.*359T>G) c.1987T>G (p.Phe663Val) c.1390T>G (p.Phe464Val) c.2095T>G (p.Phe699Val) c.2068T>G (p.Phe690Val) | |
21 | g.37512313T= | CA2388506668 | DYRK1A | c.*450T= (n.*450T=) c.2074T= (p.Phe692=) c.2047T= (p.Phe683=) n.1489T= c.1960T= (p.Phe654=) c.*359T= (n.*359T=) c.1987T= (p.Phe663=) c.1390T= (p.Phe464=) c.2095T= (p.Phe699=) c.2068T= (p.Phe690=) | |
21 | g.37512314T>A | CA409940428 | DYRK1A | c.*451T>A (n.*451T>A) c.2075T>A (p.Phe692Tyr) c.2048T>A (p.Phe683Tyr) n.1490T>A c.1961T>A (p.Phe654Tyr) c.*360T>A (n.*360T>A) c.1988T>A (p.Phe663Tyr) c.1391T>A (p.Phe464Tyr) c.2096T>A (p.Phe699Tyr) c.2069T>A (p.Phe690Tyr) | |
21 | g.37512314T>C | CA409940432 | DYRK1A | c.*451T>C (n.*451T>C) c.2075T>C (p.Phe692Ser) c.2048T>C (p.Phe683Ser) n.1490T>C c.1961T>C (p.Phe654Ser) c.*360T>C (n.*360T>C) c.1988T>C (p.Phe663Ser) c.1391T>C (p.Phe464Ser) c.2096T>C (p.Phe699Ser) c.2069T>C (p.Phe690Ser) | |
21 | g.37512314T>G | CA409940430 | DYRK1A | c.*451T>G (n.*451T>G) c.2075T>G (p.Phe692Cys) c.2048T>G (p.Phe683Cys) n.1490T>G c.1961T>G (p.Phe654Cys) c.*360T>G (n.*360T>G) c.1988T>G (p.Phe663Cys) c.1391T>G (p.Phe464Cys) c.2096T>G (p.Phe699Cys) c.2069T>G (p.Phe690Cys) | |
21 | g.37512315T>A | CA409940435 | DYRK1A | c.*452T>A (n.*452T>A) c.2076T>A (p.Phe692Leu) c.2049T>A (p.Phe683Leu) n.1491T>A c.1962T>A (p.Phe654Leu) c.*361T>A (n.*361T>A) c.1989T>A (p.Phe663Leu) c.1392T>A (p.Phe464Leu) c.2097T>A (p.Phe699Leu) c.2070T>A (p.Phe690Leu) | |
21 | g.37512315T>C | CA10024153 | DYRK1A | c.*452T>C (n.*452T>C) c.2076T>C (p.Phe692=) c.2049T>C (p.Phe683=) n.1491T>C c.1962T>C (p.Phe654=) c.*361T>C (n.*361T>C) c.1989T>C (p.Phe663=) c.1392T>C (p.Phe464=) c.2097T>C (p.Phe699=) c.2070T>C (p.Phe690=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37512315T>G | CA409940439 | DYRK1A | c.*452T>G (n.*452T>G) c.2076T>G (p.Phe692Leu) c.2049T>G (p.Phe683Leu) n.1491T>G c.1962T>G (p.Phe654Leu) c.*361T>G (n.*361T>G) c.1989T>G (p.Phe663Leu) c.1392T>G (p.Phe464Leu) c.2097T>G (p.Phe699Leu) c.2070T>G (p.Phe690Leu) | |
21 | g.37512315T= | CA2388506669 | DYRK1A | c.*452T= (n.*452T=) c.2076T= (p.Phe692=) c.2049T= (p.Phe683=) n.1491T= c.1962T= (p.Phe654=) c.*361T= (n.*361T=) c.1989T= (p.Phe663=) c.1392T= (p.Phe464=) c.2097T= (p.Phe699=) c.2070T= (p.Phe690=) | |
21 | g.37512316G>A | CA409940441 | DYRK1A | c.*453G>A (n.*453G>A) c.2077G>A (p.Gly693Arg) c.2050G>A (p.Gly684Arg) n.1492G>A c.1963G>A (p.Gly655Arg) c.*362G>A (n.*362G>A) c.1990G>A (p.Gly664Arg) c.1393G>A (p.Gly465Arg) c.2098G>A (p.Gly700Arg) c.2071G>A (p.Gly691Arg) | |
21 | g.37512316G>C | CA409940452 | DYRK1A | c.*453G>C (n.*453G>C) c.2077G>C (p.Gly693Arg) c.2050G>C (p.Gly684Arg) n.1492G>C c.1963G>C (p.Gly655Arg) c.*362G>C (n.*362G>C) c.1990G>C (p.Gly664Arg) c.1393G>C (p.Gly465Arg) c.2098G>C (p.Gly700Arg) c.2071G>C (p.Gly691Arg) | |
21 | g.37512316G= | CA2388506670 | DYRK1A | c.*453G= (n.*453G=) c.2077G= (p.Gly693=) c.2050G= (p.Gly684=) n.1492G= c.1963G= (p.Gly655=) c.*362G= (n.*362G=) c.1990G= (p.Gly664=) c.1393G= (p.Gly465=) c.2098G= (p.Gly700=) c.2071G= (p.Gly691=) | |
21 | g.37512316G>T | CA409940453 | DYRK1A | c.*453G>T (n.*453G>T) c.2077G>T (p.Gly693Ter) c.2050G>T (p.Gly684Ter) n.1492G>T c.1963G>T (p.Gly655Ter) c.*362G>T (n.*362G>T) c.1990G>T (p.Gly664Ter) c.1393G>T (p.Gly465Ter) c.2098G>T (p.Gly700Ter) c.2071G>T (p.Gly691Ter) | dbSNP |
21 | g.37512317G>A | CA409940454 | DYRK1A | c.*454G>A (n.*454G>A) c.2078G>A (p.Gly693Glu) c.2051G>A (p.Gly684Glu) n.1493G>A c.1964G>A (p.Gly655Glu) c.*363G>A (n.*363G>A) c.1991G>A (p.Gly664Glu) c.1394G>A (p.Gly465Glu) c.2099G>A (p.Gly700Glu) c.2072G>A (p.Gly691Glu) | |
21 | g.37512317G>C | CA409940455 | DYRK1A | c.*454G>C (n.*454G>C) c.2078G>C (p.Gly693Ala) c.2051G>C (p.Gly684Ala) n.1493G>C c.1964G>C (p.Gly655Ala) c.*363G>C (n.*363G>C) c.1991G>C (p.Gly664Ala) c.1394G>C (p.Gly465Ala) c.2099G>C (p.Gly700Ala) c.2072G>C (p.Gly691Ala) | |
21 | g.37512317G>T | CA409940456 | DYRK1A | c.*454G>T (n.*454G>T) c.2078G>T (p.Gly693Val) c.2051G>T (p.Gly684Val) n.1493G>T c.1964G>T (p.Gly655Val) c.*363G>T (n.*363G>T) c.1991G>T (p.Gly664Val) c.1394G>T (p.Gly465Val) c.2099G>T (p.Gly700Val) c.2072G>T (p.Gly691Val) | |
21 | g.37512318A= | CA2388506671 | DYRK1A | c.*455A= (n.*455A=) c.2079A= (p.Gly693=) c.2052A= (p.Gly684=) n.1494A= c.1965A= (p.Gly655=) c.*364A= (n.*364A=) c.1992A= (p.Gly664=) c.1395A= (p.Gly465=) c.2100A= (p.Gly700=) c.2073A= (p.Gly691=) | |
21 | g.37512318A>C | CA10024154 | DYRK1A | c.*455A>C (n.*455A>C) c.2079A>C (p.Gly693=) c.2052A>C (p.Gly684=) n.1494A>C c.1965A>C (p.Gly655=) c.*364A>C (n.*364A>C) c.1992A>C (p.Gly664=) c.1395A>C (p.Gly465=) c.2100A>C (p.Gly700=) c.2073A>C (p.Gly691=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37512318A>G | CA512328185 | DYRK1A | c.*455A>G (n.*455A>G) c.2079A>G (p.Gly693=) c.2052A>G (p.Gly684=) n.1494A>G c.1965A>G (p.Gly655=) c.*364A>G (n.*364A>G) c.1992A>G (p.Gly664=) c.1395A>G (p.Gly465=) c.2100A>G (p.Gly700=) c.2073A>G (p.Gly691=) | |
21 | g.37512318A>T | CA512328186 | DYRK1A | c.*455A>T (n.*455A>T) c.2079A>T (p.Gly693=) c.2052A>T (p.Gly684=) n.1494A>T c.1965A>T (p.Gly655=) c.*364A>T (n.*364A>T) c.1992A>T (p.Gly664=) c.1395A>T (p.Gly465=) c.2100A>T (p.Gly700=) c.2073A>T (p.Gly691=) | |
21 | g.37512319C>A | CA409940459 | DYRK1A | c.*456C>A (n.*456C>A) c.2080C>A (p.Gln694Lys) c.2053C>A (p.Gln685Lys) n.1495C>A c.1966C>A (p.Gln656Lys) c.*365C>A (n.*365C>A) c.1993C>A (p.Gln665Lys) c.1396C>A (p.Gln466Lys) c.2101C>A (p.Gln701Lys) c.2074C>A (p.Gln692Lys) | |
21 | g.37512319C= | CA2388506672 | DYRK1A | c.*456C= (n.*456C=) c.2080C= (p.Gln694=) c.2053C= (p.Gln685=) n.1495C= c.1966C= (p.Gln656=) c.*365C= (n.*365C=) c.1993C= (p.Gln665=) c.1396C= (p.Gln466=) c.2101C= (p.Gln701=) c.2074C= (p.Gln692=) | |
21 | g.37512319C>G | CA409940458 | DYRK1A | c.*456C>G (n.*456C>G) c.2080C>G (p.Gln694Glu) c.2053C>G (p.Gln685Glu) n.1495C>G c.1966C>G (p.Gln656Glu) c.*365C>G (n.*365C>G) c.1993C>G (p.Gln665Glu) c.1396C>G (p.Gln466Glu) c.2101C>G (p.Gln701Glu) c.2074C>G (p.Gln692Glu) | dbSNP gnomAD v2 gnomAD v4 |
21 | g.37512319C>T | CA409940457 | DYRK1A | c.*456C>T (n.*456C>T) c.2080C>T (p.Gln694Ter) c.2053C>T (p.Gln685Ter) n.1495C>T c.1966C>T (p.Gln656Ter) c.*365C>T (n.*365C>T) c.1993C>T (p.Gln665Ter) c.1396C>T (p.Gln466Ter) c.2101C>T (p.Gln701Ter) c.2074C>T (p.Gln692Ter) | dbSNP |
21 | g.37512320A>C | CA409940460 | DYRK1A | c.*457A>C (n.*457A>C) c.2081A>C (p.Gln694Pro) c.2054A>C (p.Gln685Pro) n.1496A>C c.1967A>C (p.Gln656Pro) c.*366A>C (n.*366A>C) c.1994A>C (p.Gln665Pro) c.1397A>C (p.Gln466Pro) c.2102A>C (p.Gln701Pro) c.2075A>C (p.Gln692Pro) | |
21 | g.37512320A>G | CA409940461 | DYRK1A | c.*457A>G (n.*457A>G) c.2081A>G (p.Gln694Arg) c.2054A>G (p.Gln685Arg) n.1496A>G c.1967A>G (p.Gln656Arg) c.*366A>G (n.*366A>G) c.1994A>G (p.Gln665Arg) c.1397A>G (p.Gln466Arg) c.2102A>G (p.Gln701Arg) c.2075A>G (p.Gln692Arg) | |
21 | g.37512320A>T | CA409940462 | DYRK1A | c.*457A>T (n.*457A>T) c.2081A>T (p.Gln694Leu) c.2054A>T (p.Gln685Leu) n.1496A>T c.1967A>T (p.Gln656Leu) c.*366A>T (n.*366A>T) c.1994A>T (p.Gln665Leu) c.1397A>T (p.Gln466Leu) c.2102A>T (p.Gln701Leu) c.2075A>T (p.Gln692Leu) | |
21 | g.37512321G>A | CA320469932 | DYRK1A | c.*458G>A (n.*458G>A) c.2082G>A (p.Gln694=) c.2055G>A (p.Gln685=) n.1497G>A c.1968G>A (p.Gln656=) c.*367G>A (n.*367G>A) c.1995G>A (p.Gln665=) c.1398G>A (p.Gln466=) c.2103G>A (p.Gln701=) c.2076G>A (p.Gln692=) | dbSNP |
21 | g.37512321G>C | CA409940463 | DYRK1A | c.*458G>C (n.*458G>C) c.2082G>C (p.Gln694His) c.2055G>C (p.Gln685His) n.1497G>C c.1968G>C (p.Gln656His) c.*367G>C (n.*367G>C) c.1995G>C (p.Gln665His) c.1398G>C (p.Gln466His) c.2103G>C (p.Gln701His) c.2076G>C (p.Gln692His) | |
21 | g.37512321G= | CA2388506673 | DYRK1A | c.*458G= (n.*458G=) c.2082G= (p.Gln694=) c.2055G= (p.Gln685=) n.1497G= c.1968G= (p.Gln656=) c.*367G= (n.*367G=) c.1995G= (p.Gln665=) c.1398G= (p.Gln466=) c.2103G= (p.Gln701=) c.2076G= (p.Gln692=) | |
21 | g.37512321G>T | CA409940464 | DYRK1A | c.*458G>T (n.*458G>T) c.2082G>T (p.Gln694His) c.2055G>T (p.Gln685His) n.1497G>T c.1968G>T (p.Gln656His) c.*367G>T (n.*367G>T) c.1995G>T (p.Gln665His) c.1398G>T (p.Gln466His) c.2103G>T (p.Gln701His) c.2076G>T (p.Gln692His) | |
21 | g.37512322A>C | CA409940465 | DYRK1A | c.*459A>C (n.*459A>C) c.2083A>C (p.Asn695His) c.2056A>C (p.Asn686His) n.1498A>C c.1969A>C (p.Asn657His) c.*368A>C (n.*368A>C) c.1996A>C (p.Asn666His) c.1399A>C (p.Asn467His) c.2104A>C (p.Asn702His) c.2077A>C (p.Asn693His) | |
21 | g.37512322A>G | CA409940466 | DYRK1A | c.*459A>G (n.*459A>G) c.2083A>G (p.Asn695Asp) c.2056A>G (p.Asn686Asp) n.1498A>G c.1969A>G (p.Asn657Asp) c.*368A>G (n.*368A>G) c.1996A>G (p.Asn666Asp) c.1399A>G (p.Asn467Asp) c.2104A>G (p.Asn702Asp) c.2077A>G (p.Asn693Asp) | |
21 | g.37512322A>T | CA409940467 | DYRK1A | c.*459A>T (n.*459A>T) c.2083A>T (p.Asn695Tyr) c.2056A>T (p.Asn686Tyr) n.1498A>T c.1969A>T (p.Asn657Tyr) c.*368A>T (n.*368A>T) c.1996A>T (p.Asn666Tyr) c.1399A>T (p.Asn467Tyr) c.2104A>T (p.Asn702Tyr) c.2077A>T (p.Asn693Tyr) | |
21 | g.37512323A= | CA2388506674 | DYRK1A | c.*460A= (n.*460A=) c.2084A= (p.Asn695=) c.2057A= (p.Asn686=) n.1499A= c.1970A= (p.Asn657=) c.*369A= (n.*369A=) c.1997A= (p.Asn666=) c.1400A= (p.Asn467=) c.2105A= (p.Asn702=) c.2078A= (p.Asn693=) | |
21 | g.37512323A>C | CA409940468 | DYRK1A | c.*460A>C (n.*460A>C) c.2084A>C (p.Asn695Thr) c.2057A>C (p.Asn686Thr) n.1499A>C c.1970A>C (p.Asn657Thr) c.*369A>C (n.*369A>C) c.1997A>C (p.Asn666Thr) c.1400A>C (p.Asn467Thr) c.2105A>C (p.Asn702Thr) c.2078A>C (p.Asn693Thr) | |
21 | g.37512323A>G | CA10024155 | DYRK1A | c.*460A>G (n.*460A>G) c.2084A>G (p.Asn695Ser) c.2057A>G (p.Asn686Ser) n.1499A>G c.1970A>G (p.Asn657Ser) c.*369A>G (n.*369A>G) c.1997A>G (p.Asn666Ser) c.1400A>G (p.Asn467Ser) c.2105A>G (p.Asn702Ser) c.2078A>G (p.Asn693Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37512323A>T | CA409940479 | DYRK1A | c.*460A>T (n.*460A>T) c.2084A>T (p.Asn695Ile) c.2057A>T (p.Asn686Ile) n.1499A>T c.1970A>T (p.Asn657Ile) c.*369A>T (n.*369A>T) c.1997A>T (p.Asn666Ile) c.1400A>T (p.Asn467Ile) c.2105A>T (p.Asn702Ile) c.2078A>T (p.Asn693Ile) | dbSNP |
21 | g.37512324T>A | CA409940489 | DYRK1A | c.*461T>A (n.*461T>A) c.2085T>A (p.Asn695Lys) c.2058T>A (p.Asn686Lys) n.1500T>A c.1971T>A (p.Asn657Lys) c.*370T>A (n.*370T>A) c.1998T>A (p.Asn666Lys) c.1401T>A (p.Asn467Lys) c.2106T>A (p.Asn702Lys) c.2079T>A (p.Asn693Lys) | |
21 | g.37512324T>C | CA512328188 | DYRK1A | c.*461T>C (n.*461T>C) c.2085T>C (p.Asn695=) c.2058T>C (p.Asn686=) n.1500T>C c.1971T>C (p.Asn657=) c.*370T>C (n.*370T>C) c.1998T>C (p.Asn666=) c.1401T>C (p.Asn467=) c.2106T>C (p.Asn702=) c.2079T>C (p.Asn693=) | |
21 | g.37512324T>G | CA409940485 | DYRK1A | c.*461T>G (n.*461T>G) c.2085T>G (p.Asn695Lys) c.2058T>G (p.Asn686Lys) n.1500T>G c.1971T>G (p.Asn657Lys) c.*370T>G (n.*370T>G) c.1998T>G (p.Asn666Lys) c.1401T>G (p.Asn467Lys) c.2106T>G (p.Asn702Lys) c.2079T>G (p.Asn693Lys) | gnomAD v4 |
21 | g.37512324T= | CA2388506675 | DYRK1A | c.*461T= (n.*461T=) c.2085T= (p.Asn695=) c.2058T= (p.Asn686=) n.1500T= c.1971T= (p.Asn657=) c.*370T= (n.*370T=) c.1998T= (p.Asn666=) c.1401T= (p.Asn467=) c.2106T= (p.Asn702=) c.2079T= (p.Asn693=) | |
21 | g.37512325G>A | CA409940492 | DYRK1A | c.*462G>A (n.*462G>A) c.2086G>A (p.Gly696Arg) c.2059G>A (p.Gly687Arg) n.1501G>A c.1972G>A (p.Gly658Arg) c.*371G>A (n.*371G>A) c.1999G>A (p.Gly667Arg) c.1402G>A (p.Gly468Arg) c.2107G>A (p.Gly703Arg) c.2080G>A (p.Gly694Arg) | |
21 | g.37512325G>C | CA409940495 | DYRK1A | c.*462G>C (n.*462G>C) c.2086G>C (p.Gly696Arg) c.2059G>C (p.Gly687Arg) n.1501G>C c.1972G>C (p.Gly658Arg) c.*371G>C (n.*371G>C) c.1999G>C (p.Gly667Arg) c.1402G>C (p.Gly468Arg) c.2107G>C (p.Gly703Arg) c.2080G>C (p.Gly694Arg) | |
21 | g.37512325G= | CA2388506676 | DYRK1A | c.*462G= (n.*462G=) c.2086G= (p.Gly696=) c.2059G= (p.Gly687=) n.1501G= c.1972G= (p.Gly658=) c.*371G= (n.*371G=) c.1999G= (p.Gly667=) c.1402G= (p.Gly468=) c.2107G= (p.Gly703=) c.2080G= (p.Gly694=) | |
21 | g.37512325G>T | CA409940509 | DYRK1A | c.*462G>T (n.*462G>T) c.2086G>T (p.Gly696Ter) c.2059G>T (p.Gly687Ter) n.1501G>T c.1972G>T (p.Gly658Ter) c.*371G>T (n.*371G>T) c.1999G>T (p.Gly667Ter) c.1402G>T (p.Gly468Ter) c.2107G>T (p.Gly703Ter) c.2080G>T (p.Gly694Ter) | dbSNP |
21 | g.37512326_37512328dup | CA638056133 | DYRK1A | c.*463_*465dup (n.*463_*465dup) c.2087_2089dup (p.Gly696_Ala697insGly) c.2060_2062dup (p.Gly687_Ala688insGly) n.1502_1504dup c.1973_1975dup (p.Gly658_Ala659insGly) c.*372_*374dup (n.*372_*374dup) c.2000_2002dup (p.Gly667_Ala668insGly) c.1403_1405dup (p.Gly468_Ala469insGly) c.2108_2110dup (p.Gly703_Ala704insGly) c.2081_2083dup (p.Gly694_Ala695insGly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.37512326G>A | CA409940514 | DYRK1A | c.*463G>A (n.*463G>A) c.2087G>A (p.Gly696Glu) c.2060G>A (p.Gly687Glu) n.1502G>A c.1973G>A (p.Gly658Glu) c.*372G>A (n.*372G>A) c.2000G>A (p.Gly667Glu) c.1403G>A (p.Gly468Glu) c.2108G>A (p.Gly703Glu) c.2081G>A (p.Gly694Glu) | |
21 | g.37512326G>C | CA409940517 | DYRK1A | c.*463G>C (n.*463G>C) c.2087G>C (p.Gly696Ala) c.2060G>C (p.Gly687Ala) n.1502G>C c.1973G>C (p.Gly658Ala) c.*372G>C (n.*372G>C) c.2000G>C (p.Gly667Ala) c.1403G>C (p.Gly468Ala) c.2108G>C (p.Gly703Ala) c.2081G>C (p.Gly694Ala) | |
21 | g.37512326G>T | CA409940520 | DYRK1A | c.*463G>T (n.*463G>T) c.2087G>T (p.Gly696Val) c.2060G>T (p.Gly687Val) n.1502G>T c.1973G>T (p.Gly658Val) c.*372G>T (n.*372G>T) c.2000G>T (p.Gly667Val) c.1403G>T (p.Gly468Val) c.2108G>T (p.Gly703Val) c.2081G>T (p.Gly694Val) | |
21 | g.37512327A>C | CA512328189 | DYRK1A | c.*464A>C (n.*464A>C) c.2088A>C (p.Gly696=) c.2061A>C (p.Gly687=) n.1503A>C c.1974A>C (p.Gly658=) c.*373A>C (n.*373A>C) c.2001A>C (p.Gly667=) c.1404A>C (p.Gly468=) c.2109A>C (p.Gly703=) c.2082A>C (p.Gly694=) | |
21 | g.37512327A>G | CA512328190 | DYRK1A | c.*464A>G (n.*464A>G) c.2088A>G (p.Gly696=) c.2061A>G (p.Gly687=) n.1503A>G c.1974A>G (p.Gly658=) c.*373A>G (n.*373A>G) c.2001A>G (p.Gly667=) c.1404A>G (p.Gly468=) c.2109A>G (p.Gly703=) c.2082A>G (p.Gly694=) | |
21 | g.37512327A>T | CA512328191 | DYRK1A | c.*464A>T (n.*464A>T) c.2088A>T (p.Gly696=) c.2061A>T (p.Gly687=) n.1503A>T c.1974A>T (p.Gly658=) c.*373A>T (n.*373A>T) c.2001A>T (p.Gly667=) c.1404A>T (p.Gly468=) c.2109A>T (p.Gly703=) c.2082A>T (p.Gly694=) | |
21 | g.37512328G>A | CA409940523 | DYRK1A | c.*465G>A (n.*465G>A) c.2089G>A (p.Ala697Thr) c.2062G>A (p.Ala688Thr) n.1504G>A c.1975G>A (p.Ala659Thr) c.*374G>A (n.*374G>A) c.2002G>A (p.Ala668Thr) c.1405G>A (p.Ala469Thr) c.2110G>A (p.Ala704Thr) c.2083G>A (p.Ala695Thr) | |
21 | g.37512328G>C | CA409940525 | DYRK1A | c.*465G>C (n.*465G>C) c.2089G>C (p.Ala697Pro) c.2062G>C (p.Ala688Pro) n.1504G>C c.1975G>C (p.Ala659Pro) c.*374G>C (n.*374G>C) c.2002G>C (p.Ala668Pro) c.1405G>C (p.Ala469Pro) c.2110G>C (p.Ala704Pro) c.2083G>C (p.Ala695Pro) | |
21 | g.37512328G>T | CA409940528 | DYRK1A | c.*465G>T (n.*465G>T) c.2089G>T (p.Ala697Ser) c.2062G>T (p.Ala688Ser) n.1504G>T c.1975G>T (p.Ala659Ser) c.*374G>T (n.*374G>T) c.2002G>T (p.Ala668Ser) c.1405G>T (p.Ala469Ser) c.2110G>T (p.Ala704Ser) c.2083G>T (p.Ala695Ser) | |
21 | g.37512329C>A | CA409940532 | DYRK1A | c.*466C>A (n.*466C>A) c.2090C>A (p.Ala697Asp) c.2063C>A (p.Ala688Asp) n.1505C>A c.1976C>A (p.Ala659Asp) c.*375C>A (n.*375C>A) c.2003C>A (p.Ala668Asp) c.1406C>A (p.Ala469Asp) c.2111C>A (p.Ala704Asp) c.2084C>A (p.Ala695Asp) | |
21 | g.37512329C>G | CA409940540 | DYRK1A | c.*466C>G (n.*466C>G) c.2090C>G (p.Ala697Gly) c.2063C>G (p.Ala688Gly) n.1505C>G c.1976C>G (p.Ala659Gly) c.*375C>G (n.*375C>G) c.2003C>G (p.Ala668Gly) c.1406C>G (p.Ala469Gly) c.2111C>G (p.Ala704Gly) c.2084C>G (p.Ala695Gly) | gnomAD v4 |
21 | g.37512329C>T | CA409940543 | DYRK1A | c.*466C>T (n.*466C>T) c.2090C>T (p.Ala697Val) c.2063C>T (p.Ala688Val) n.1505C>T c.1976C>T (p.Ala659Val) c.*375C>T (n.*375C>T) c.2003C>T (p.Ala668Val) c.1406C>T (p.Ala469Val) c.2111C>T (p.Ala704Val) c.2084C>T (p.Ala695Val) | |
21 | g.37512330T>A | CA512328193 | DYRK1A | c.*467T>A (n.*467T>A) c.2091T>A (p.Ala697=) c.2064T>A (p.Ala688=) n.1506T>A c.1977T>A (p.Ala659=) c.*376T>A (n.*376T>A) c.2004T>A (p.Ala668=) c.1407T>A (p.Ala469=) c.2112T>A (p.Ala704=) c.2085T>A (p.Ala695=) | |
21 | g.37512330T>C | CA10024156 | DYRK1A | c.*467T>C (n.*467T>C) c.2091T>C (p.Ala697=) c.2064T>C (p.Ala688=) n.1506T>C c.1977T>C (p.Ala659=) c.*376T>C (n.*376T>C) c.2004T>C (p.Ala668=) c.1407T>C (p.Ala469=) c.2112T>C (p.Ala704=) c.2085T>C (p.Ala695=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37512330T>G | CA512328194 | DYRK1A | c.*467T>G (n.*467T>G) c.2091T>G (p.Ala697=) c.2064T>G (p.Ala688=) n.1506T>G c.1977T>G (p.Ala659=) c.*376T>G (n.*376T>G) c.2004T>G (p.Ala668=) c.1407T>G (p.Ala469=) c.2112T>G (p.Ala704=) c.2085T>G (p.Ala695=) | |
21 | g.37512330T= | CA2388506677 | DYRK1A | c.*467T= (n.*467T=) c.2091T= (p.Ala697=) c.2064T= (p.Ala688=) n.1506T= c.1977T= (p.Ala659=) c.*376T= (n.*376T=) c.2004T= (p.Ala668=) c.1407T= (p.Ala469=) c.2112T= (p.Ala704=) c.2085T= (p.Ala695=) | |
21 | g.37512331A>C | CA409940552 | DYRK1A | c.*468A>C (n.*468A>C) c.2092A>C (p.Met698Leu) c.2065A>C (p.Met689Leu) n.1507A>C c.1978A>C (p.Met660Leu) c.*377A>C (n.*377A>C) c.2005A>C (p.Met669Leu) c.1408A>C (p.Met470Leu) c.2113A>C (p.Met705Leu) c.2086A>C (p.Met696Leu) | |
21 | g.37512331A>G | CA409940550 | DYRK1A | c.*468A>G (n.*468A>G) c.2092A>G (p.Met698Val) c.2065A>G (p.Met689Val) n.1507A>G c.1978A>G (p.Met660Val) c.*377A>G (n.*377A>G) c.2005A>G (p.Met669Val) c.1408A>G (p.Met470Val) c.2113A>G (p.Met705Val) c.2086A>G (p.Met696Val) | gnomAD v4 |
21 | g.37512331A>T | CA409940551 | DYRK1A | c.*468A>T (n.*468A>T) c.2092A>T (p.Met698Leu) c.2065A>T (p.Met689Leu) n.1507A>T c.1978A>T (p.Met660Leu) c.*377A>T (n.*377A>T) c.2005A>T (p.Met669Leu) c.1408A>T (p.Met470Leu) c.2113A>T (p.Met705Leu) c.2086A>T (p.Met696Leu) | |
21 | g.37512332T>A | CA409940557 | DYRK1A | c.*469T>A (n.*469T>A) c.2093T>A (p.Met698Lys) c.2066T>A (p.Met689Lys) n.1508T>A c.1979T>A (p.Met660Lys) c.*378T>A (n.*378T>A) c.2006T>A (p.Met669Lys) c.1409T>A (p.Met470Lys) c.2114T>A (p.Met705Lys) c.2087T>A (p.Met696Lys) | |
21 | g.37512332T>C | CA409940560 | DYRK1A | c.*469T>C (n.*469T>C) c.2093T>C (p.Met698Thr) c.2066T>C (p.Met689Thr) n.1508T>C c.1979T>C (p.Met660Thr) c.*378T>C (n.*378T>C) c.2006T>C (p.Met669Thr) c.1409T>C (p.Met470Thr) c.2114T>C (p.Met705Thr) c.2087T>C (p.Met696Thr) | gnomAD v4 |
21 | g.37512332T>G | CA409940563 | DYRK1A | c.*469T>G (n.*469T>G) c.2093T>G (p.Met698Arg) c.2066T>G (p.Met689Arg) n.1508T>G c.1979T>G (p.Met660Arg) c.*378T>G (n.*378T>G) c.2006T>G (p.Met669Arg) c.1409T>G (p.Met470Arg) c.2114T>G (p.Met705Arg) c.2087T>G (p.Met696Arg) | |
21 | g.37512333G>A | CA409940568 | DYRK1A | c.*470G>A (n.*470G>A) c.2094G>A (p.Met698Ile) c.2067G>A (p.Met689Ile) n.1509G>A c.1980G>A (p.Met660Ile) c.*379G>A (n.*379G>A) c.2007G>A (p.Met669Ile) c.1410G>A (p.Met470Ile) c.2115G>A (p.Met705Ile) c.2088G>A (p.Met696Ile) | |
21 | g.37512333G>C | CA409940572 | DYRK1A | c.*470G>C (n.*470G>C) c.2094G>C (p.Met698Ile) c.2067G>C (p.Met689Ile) n.1509G>C c.1980G>C (p.Met660Ile) c.*379G>C (n.*379G>C) c.2007G>C (p.Met669Ile) c.1410G>C (p.Met470Ile) c.2115G>C (p.Met705Ile) c.2088G>C (p.Met696Ile) | |
21 | g.37512333G>T | CA409940575 | DYRK1A | c.*470G>T (n.*470G>T) c.2094G>T (p.Met698Ile) c.2067G>T (p.Met689Ile) n.1509G>T c.1980G>T (p.Met660Ile) c.*379G>T (n.*379G>T) c.2007G>T (p.Met669Ile) c.1410G>T (p.Met470Ile) c.2115G>T (p.Met705Ile) c.2088G>T (p.Met696Ile) | |
21 | g.37512334G>A | CA409940589 | DYRK1A | c.*471G>A (n.*471G>A) c.2095G>A (p.Asp699Asn) c.2068G>A (p.Asp690Asn) n.1510G>A c.1981G>A (p.Asp661Asn) c.*380G>A (n.*380G>A) c.2008G>A (p.Asp670Asn) c.1411G>A (p.Asp471Asn) c.2116G>A (p.Asp706Asn) c.2089G>A (p.Asp697Asn) | dbSNP gnomAD v3 gnomAD v4 |
21 | g.37512334G>C | CA409940592 | DYRK1A | c.*471G>C (n.*471G>C) c.2095G>C (p.Asp699His) c.2068G>C (p.Asp690His) n.1510G>C c.1981G>C (p.Asp661His) c.*380G>C (n.*380G>C) c.2008G>C (p.Asp670His) c.1411G>C (p.Asp471His) c.2116G>C (p.Asp706His) c.2089G>C (p.Asp697His) | |
21 | g.37512334G= | CA2388506678 | DYRK1A | c.*471G= (n.*471G=) c.2095G= (p.Asp699=) c.2068G= (p.Asp690=) n.1510G= c.1981G= (p.Asp661=) c.*380G= (n.*380G=) c.2008G= (p.Asp670=) c.1411G= (p.Asp471=) c.2116G= (p.Asp706=) c.2089G= (p.Asp697=) | |
21 | g.37512334G>T | CA409940595 | DYRK1A | c.*471G>T (n.*471G>T) c.2095G>T (p.Asp699Tyr) c.2068G>T (p.Asp690Tyr) n.1510G>T c.1981G>T (p.Asp661Tyr) c.*380G>T (n.*380G>T) c.2008G>T (p.Asp670Tyr) c.1411G>T (p.Asp471Tyr) c.2116G>T (p.Asp706Tyr) c.2089G>T (p.Asp697Tyr) | |
21 | g.37512335A>C | CA409940605 | DYRK1A | c.*472A>C (n.*472A>C) c.2096A>C (p.Asp699Ala) c.2069A>C (p.Asp690Ala) n.1511A>C c.1982A>C (p.Asp661Ala) c.*381A>C (n.*381A>C) c.2009A>C (p.Asp670Ala) c.1412A>C (p.Asp471Ala) c.2117A>C (p.Asp706Ala) c.2090A>C (p.Asp697Ala) | |
21 | g.37512335A>G | CA409940606 | DYRK1A | c.*472A>G (n.*472A>G) c.2096A>G (p.Asp699Gly) c.2069A>G (p.Asp690Gly) n.1511A>G c.1982A>G (p.Asp661Gly) c.*381A>G (n.*381A>G) c.2009A>G (p.Asp670Gly) c.1412A>G (p.Asp471Gly) c.2117A>G (p.Asp706Gly) c.2090A>G (p.Asp697Gly) | ClinVar |
21 | g.37512335A>T | CA409940614 | DYRK1A | c.*472A>T (n.*472A>T) c.2096A>T (p.Asp699Val) c.2069A>T (p.Asp690Val) n.1511A>T c.1982A>T (p.Asp661Val) c.*381A>T (n.*381A>T) c.2009A>T (p.Asp670Val) c.1412A>T (p.Asp471Val) c.2117A>T (p.Asp706Val) c.2090A>T (p.Asp697Val) | |
21 | g.37512336C>A | CA409940627 | DYRK1A | c.*473C>A (n.*473C>A) c.2097C>A (p.Asp699Glu) c.2070C>A (p.Asp690Glu) n.1512C>A c.1983C>A (p.Asp661Glu) c.*382C>A (n.*382C>A) c.2010C>A (p.Asp670Glu) c.1413C>A (p.Asp471Glu) c.2118C>A (p.Asp706Glu) c.2091C>A (p.Asp697Glu) | |
21 | g.37512336C= | CA2388506679 | DYRK1A | c.*473C= (n.*473C=) c.2097C= (p.Asp699=) c.2070C= (p.Asp690=) n.1512C= c.1983C= (p.Asp661=) c.*382C= (n.*382C=) c.2010C= (p.Asp670=) c.1413C= (p.Asp471=) c.2118C= (p.Asp706=) c.2091C= (p.Asp697=) | |
21 | g.37512336C>G | CA409940625 | DYRK1A | c.*473C>G (n.*473C>G) c.2097C>G (p.Asp699Glu) c.2070C>G (p.Asp690Glu) n.1512C>G c.1983C>G (p.Asp661Glu) c.*382C>G (n.*382C>G) c.2010C>G (p.Asp670Glu) c.1413C>G (p.Asp471Glu) c.2118C>G (p.Asp706Glu) c.2091C>G (p.Asp697Glu) | |
21 | g.37512336C>T | CA10024157 | DYRK1A | c.*473C>T (n.*473C>T) c.2097C>T (p.Asp699=) c.2070C>T (p.Asp690=) n.1512C>T c.1983C>T (p.Asp661=) c.*382C>T (n.*382C>T) c.2010C>T (p.Asp670=) c.1413C>T (p.Asp471=) c.2118C>T (p.Asp706=) c.2091C>T (p.Asp697=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37512337G>A | CA10024158 | DYRK1A | c.*474G>A (n.*474G>A) c.2098G>A (p.Val700Ile) c.2071G>A (p.Val691Ile) n.1513G>A c.1984G>A (p.Val662Ile) c.*383G>A (n.*383G>A) c.2011G>A (p.Val671Ile) c.1414G>A (p.Val472Ile) c.2119G>A (p.Val707Ile) c.2092G>A (p.Val698Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37512337G>C | CA409940631 | DYRK1A | c.*474G>C (n.*474G>C) c.2098G>C (p.Val700Leu) c.2071G>C (p.Val691Leu) n.1513G>C c.1984G>C (p.Val662Leu) c.*383G>C (n.*383G>C) c.2011G>C (p.Val671Leu) c.1414G>C (p.Val472Leu) c.2119G>C (p.Val707Leu) c.2092G>C (p.Val698Leu) | |
21 | g.37512337G= | CA2388506680 | DYRK1A | c.*474G= (n.*474G=) c.2098G= (p.Val700=) c.2071G= (p.Val691=) n.1513G= c.1984G= (p.Val662=) c.*383G= (n.*383G=) c.2011G= (p.Val671=) c.1414G= (p.Val472=) c.2119G= (p.Val707=) c.2092G= (p.Val698=) | |
21 | g.37512337G>T | CA409940630 | DYRK1A | c.*474G>T (n.*474G>T) c.2098G>T (p.Val700Phe) c.2071G>T (p.Val691Phe) n.1513G>T c.1984G>T (p.Val662Phe) c.*383G>T (n.*383G>T) c.2011G>T (p.Val671Phe) c.1414G>T (p.Val472Phe) c.2119G>T (p.Val707Phe) c.2092G>T (p.Val698Phe) | |
21 | g.37512338T>A | CA409940632 | DYRK1A | c.*475T>A (n.*475T>A) c.2099T>A (p.Val700Asp) c.2072T>A (p.Val691Asp) n.1514T>A c.1985T>A (p.Val662Asp) c.*384T>A (n.*384T>A) c.2012T>A (p.Val671Asp) c.1415T>A (p.Val472Asp) c.2120T>A (p.Val707Asp) c.2093T>A (p.Val698Asp) | |
21 | g.37512338T>C | CA409940634 | DYRK1A | c.*475T>C (n.*475T>C) c.2099T>C (p.Val700Ala) c.2072T>C (p.Val691Ala) n.1514T>C c.1985T>C (p.Val662Ala) c.*384T>C (n.*384T>C) c.2012T>C (p.Val671Ala) c.1415T>C (p.Val472Ala) c.2120T>C (p.Val707Ala) c.2093T>C (p.Val698Ala) | |
21 | g.37512338T>G | CA409940635 | DYRK1A | c.*475T>G (n.*475T>G) c.2099T>G (p.Val700Gly) c.2072T>G (p.Val691Gly) n.1514T>G c.1985T>G (p.Val662Gly) c.*384T>G (n.*384T>G) c.2012T>G (p.Val671Gly) c.1415T>G (p.Val472Gly) c.2120T>G (p.Val707Gly) c.2093T>G (p.Val698Gly) | |
21 | g.37512339T>A | CA512328197 | DYRK1A | c.*476T>A (n.*476T>A) c.2100T>A (p.Val700=) c.2073T>A (p.Val691=) n.1515T>A c.1986T>A (p.Val662=) c.*385T>A (n.*385T>A) c.2013T>A (p.Val671=) c.1416T>A (p.Val472=) c.2121T>A (p.Val707=) c.2094T>A (p.Val698=) | |
21 | g.37512339T>C | CA512328199 | DYRK1A | c.*476T>C (n.*476T>C) c.2100T>C (p.Val700=) c.2073T>C (p.Val691=) n.1515T>C c.1986T>C (p.Val662=) c.*385T>C (n.*385T>C) c.2013T>C (p.Val671=) c.1416T>C (p.Val472=) c.2121T>C (p.Val707=) c.2094T>C (p.Val698=) | |
21 | g.37512339T>G | CA512328201 | DYRK1A | c.*476T>G (n.*476T>G) c.2100T>G (p.Val700=) c.2073T>G (p.Val691=) n.1515T>G c.1986T>G (p.Val662=) c.*385T>G (n.*385T>G) c.2013T>G (p.Val671=) c.1416T>G (p.Val472=) c.2121T>G (p.Val707=) c.2094T>G (p.Val698=) | |
21 | g.37512340A>C | CA409940636 | DYRK1A | c.*477A>C (n.*477A>C) c.2101A>C (p.Asn701His) c.2074A>C (p.Asn692His) n.1516A>C c.1987A>C (p.Asn663His) c.*386A>C (n.*386A>C) c.2014A>C (p.Asn672His) c.1417A>C (p.Asn473His) c.2122A>C (p.Asn708His) c.2095A>C (p.Asn699His) | |
21 | g.37512340A>G | CA409940638 | DYRK1A | c.*477A>G (n.*477A>G) c.2101A>G (p.Asn701Asp) c.2074A>G (p.Asn692Asp) n.1516A>G c.1987A>G (p.Asn663Asp) c.*386A>G (n.*386A>G) c.2014A>G (p.Asn672Asp) c.1417A>G (p.Asn473Asp) c.2122A>G (p.Asn708Asp) c.2095A>G (p.Asn699Asp) | |
21 | g.37512340A>T | CA409940641 | DYRK1A | c.*477A>T (n.*477A>T) c.2101A>T (p.Asn701Tyr) c.2074A>T (p.Asn692Tyr) n.1516A>T c.1987A>T (p.Asn663Tyr) c.*386A>T (n.*386A>T) c.2014A>T (p.Asn672Tyr) c.1417A>T (p.Asn473Tyr) c.2122A>T (p.Asn708Tyr) c.2095A>T (p.Asn699Tyr) | |
21 | g.37512341A>C | CA409940646 | DYRK1A | c.*478A>C (n.*478A>C) c.2102A>C (p.Asn701Thr) c.2075A>C (p.Asn692Thr) n.1517A>C c.1988A>C (p.Asn663Thr) c.*387A>C (n.*387A>C) c.2015A>C (p.Asn672Thr) c.1418A>C (p.Asn473Thr) c.2123A>C (p.Asn708Thr) c.2096A>C (p.Asn699Thr) | |
21 | g.37512341A>G | CA409940656 | DYRK1A | c.*478A>G (n.*478A>G) c.2102A>G (p.Asn701Ser) c.2075A>G (p.Asn692Ser) n.1517A>G c.1988A>G (p.Asn663Ser) c.*387A>G (n.*387A>G) c.2015A>G (p.Asn672Ser) c.1418A>G (p.Asn473Ser) c.2123A>G (p.Asn708Ser) c.2096A>G (p.Asn699Ser) | gnomAD v4 |
21 | g.37512341A>T | CA409940660 | DYRK1A | c.*478A>T (n.*478A>T) c.2102A>T (p.Asn701Ile) c.2075A>T (p.Asn692Ile) n.1517A>T c.1988A>T (p.Asn663Ile) c.*387A>T (n.*387A>T) c.2015A>T (p.Asn672Ile) c.1418A>T (p.Asn473Ile) c.2123A>T (p.Asn708Ile) c.2096A>T (p.Asn699Ile) | |
21 | g.37512342T>A | CA409940666 | DYRK1A | c.*479T>A (n.*479T>A) c.2103T>A (p.Asn701Lys) c.2076T>A (p.Asn692Lys) n.1518T>A c.1989T>A (p.Asn663Lys) c.*388T>A (n.*388T>A) c.2016T>A (p.Asn672Lys) c.1419T>A (p.Asn473Lys) c.2124T>A (p.Asn708Lys) c.2097T>A (p.Asn699Lys) | |
21 | g.37512342T>C | CA512328202 | DYRK1A | c.*479T>C (n.*479T>C) c.2103T>C (p.Asn701=) c.2076T>C (p.Asn692=) n.1518T>C c.1989T>C (p.Asn663=) c.*388T>C (n.*388T>C) c.2016T>C (p.Asn672=) c.1419T>C (p.Asn473=) c.2124T>C (p.Asn708=) c.2097T>C (p.Asn699=) | |
21 | g.37512342T>G | CA409940673 | DYRK1A | c.*479T>G (n.*479T>G) c.2103T>G (p.Asn701Lys) c.2076T>G (p.Asn692Lys) n.1518T>G c.1989T>G (p.Asn663Lys) c.*388T>G (n.*388T>G) c.2016T>G (p.Asn672Lys) c.1419T>G (p.Asn473Lys) c.2124T>G (p.Asn708Lys) c.2097T>G (p.Asn699Lys) | |
21 | g.37512343T>A | CA409940680 | DYRK1A | c.*480T>A (n.*480T>A) c.2104T>A (p.Leu702Met) c.2077T>A (p.Leu693Met) n.1519T>A c.1990T>A (p.Leu664Met) c.*389T>A (n.*389T>A) c.2017T>A (p.Leu673Met) c.1420T>A (p.Leu474Met) c.2125T>A (p.Leu709Met) c.2098T>A (p.Leu700Met) | |
21 | g.37512343T>C | CA512328203 | DYRK1A | c.*480T>C (n.*480T>C) c.2104T>C (p.Leu702=) c.2077T>C (p.Leu693=) n.1519T>C c.1990T>C (p.Leu664=) c.*389T>C (n.*389T>C) c.2017T>C (p.Leu673=) c.1420T>C (p.Leu474=) c.2125T>C (p.Leu709=) c.2098T>C (p.Leu700=) | ClinVar |
21 | g.37512343T>G | CA409940678 | DYRK1A | c.*480T>G (n.*480T>G) c.2104T>G (p.Leu702Val) c.2077T>G (p.Leu693Val) n.1519T>G c.1990T>G (p.Leu664Val) c.*389T>G (n.*389T>G) c.2017T>G (p.Leu673Val) c.1420T>G (p.Leu474Val) c.2125T>G (p.Leu709Val) c.2098T>G (p.Leu700Val) | |
21 | g.37512344T>A | CA409940684 | DYRK1A | c.*481T>A (n.*481T>A) c.2105T>A (p.Leu702Ter) c.2078T>A (p.Leu693Ter) n.1520T>A c.1991T>A (p.Leu664Ter) c.*390T>A (n.*390T>A) c.2018T>A (p.Leu673Ter) c.1421T>A (p.Leu474Ter) c.2126T>A (p.Leu709Ter) c.2099T>A (p.Leu700Ter) | dbSNP |
21 | g.37512344T>C | CA409940685 | DYRK1A | c.*481T>C (n.*481T>C) c.2105T>C (p.Leu702Ser) c.2078T>C (p.Leu693Ser) n.1520T>C c.1991T>C (p.Leu664Ser) c.*390T>C (n.*390T>C) c.2018T>C (p.Leu673Ser) c.1421T>C (p.Leu474Ser) c.2126T>C (p.Leu709Ser) c.2099T>C (p.Leu700Ser) | |
21 | g.37512344T>G | CA409940690 | DYRK1A | c.*481T>G (n.*481T>G) c.2105T>G (p.Leu702Trp) c.2078T>G (p.Leu693Trp) n.1520T>G c.1991T>G (p.Leu664Trp) c.*390T>G (n.*390T>G) c.2018T>G (p.Leu673Trp) c.1421T>G (p.Leu474Trp) c.2126T>G (p.Leu709Trp) c.2099T>G (p.Leu700Trp) | |
21 | g.37512344T= | CA2388506681 | DYRK1A | c.*481T= (n.*481T=) c.2105T= (p.Leu702=) c.2078T= (p.Leu693=) n.1520T= c.1991T= (p.Leu664=) c.*390T= (n.*390T=) c.2018T= (p.Leu673=) c.1421T= (p.Leu474=) c.2126T= (p.Leu709=) c.2099T= (p.Leu700=) | |
21 | g.37512345G>A | CA512328204 | DYRK1A | c.*482G>A (n.*482G>A) c.2106G>A (p.Leu702=) c.2079G>A (p.Leu693=) n.1521G>A c.1992G>A (p.Leu664=) c.*391G>A (n.*391G>A) c.2019G>A (p.Leu673=) c.1422G>A (p.Leu474=) c.2127G>A (p.Leu709=) c.2100G>A (p.Leu700=) | |
21 | g.37512345G>C | CA409940695 | DYRK1A | c.*482G>C (n.*482G>C) c.2106G>C (p.Leu702Phe) c.2079G>C (p.Leu693Phe) n.1521G>C c.1992G>C (p.Leu664Phe) c.*391G>C (n.*391G>C) c.2019G>C (p.Leu673Phe) c.1422G>C (p.Leu474Phe) c.2127G>C (p.Leu709Phe) c.2100G>C (p.Leu700Phe) | gnomAD v4 |
21 | g.37512345G>T | CA409940696 | DYRK1A | c.*482G>T (n.*482G>T) c.2106G>T (p.Leu702Phe) c.2079G>T (p.Leu693Phe) n.1521G>T c.1992G>T (p.Leu664Phe) c.*391G>T (n.*391G>T) c.2019G>T (p.Leu673Phe) c.1422G>T (p.Leu474Phe) c.2127G>T (p.Leu709Phe) c.2100G>T (p.Leu700Phe) | |
21 | g.37512346A>C | CA409940700 | DYRK1A | c.*483A>C (n.*483A>C) c.2107A>C (p.Thr703Pro) c.2080A>C (p.Thr694Pro) n.1522A>C c.1993A>C (p.Thr665Pro) c.*392A>C (n.*392A>C) c.2020A>C (p.Thr674Pro) c.1423A>C (p.Thr475Pro) c.2128A>C (p.Thr710Pro) c.2101A>C (p.Thr701Pro) | |
21 | g.37512346A>G | CA409940702 | DYRK1A | c.*483A>G (n.*483A>G) c.2107A>G (p.Thr703Ala) c.2080A>G (p.Thr694Ala) n.1522A>G c.1993A>G (p.Thr665Ala) c.*392A>G (n.*392A>G) c.2020A>G (p.Thr674Ala) c.1423A>G (p.Thr475Ala) c.2128A>G (p.Thr710Ala) c.2101A>G (p.Thr701Ala) | |
21 | g.37512346A>T | CA409940706 | DYRK1A | c.*483A>T (n.*483A>T) c.2107A>T (p.Thr703Ser) c.2080A>T (p.Thr694Ser) n.1522A>T c.1993A>T (p.Thr665Ser) c.*392A>T (n.*392A>T) c.2020A>T (p.Thr674Ser) c.1423A>T (p.Thr475Ser) c.2128A>T (p.Thr710Ser) c.2101A>T (p.Thr701Ser) | |
21 | g.37512347C>A | CA409940709 | DYRK1A | c.*484C>A (n.*484C>A) c.2108C>A (p.Thr703Asn) c.2081C>A (p.Thr694Asn) n.1523C>A c.1994C>A (p.Thr665Asn) c.*393C>A (n.*393C>A) c.2021C>A (p.Thr674Asn) c.1424C>A (p.Thr475Asn) c.2129C>A (p.Thr710Asn) c.2102C>A (p.Thr701Asn) | |
21 | g.37512347C>G | CA409940710 | DYRK1A | c.*484C>G (n.*484C>G) c.2108C>G (p.Thr703Ser) c.2081C>G (p.Thr694Ser) n.1523C>G c.1994C>G (p.Thr665Ser) c.*393C>G (n.*393C>G) c.2021C>G (p.Thr674Ser) c.1424C>G (p.Thr475Ser) c.2129C>G (p.Thr710Ser) c.2102C>G (p.Thr701Ser) | |
21 | g.37512347C>T | CA409940712 | DYRK1A | c.*484C>T (n.*484C>T) c.2108C>T (p.Thr703Ile) c.2081C>T (p.Thr694Ile) n.1523C>T c.1994C>T (p.Thr665Ile) c.*393C>T (n.*393C>T) c.2021C>T (p.Thr674Ile) c.1424C>T (p.Thr475Ile) c.2129C>T (p.Thr710Ile) c.2102C>T (p.Thr701Ile) | gnomAD v4 |
21 | g.37512348C>A | CA512328205 | DYRK1A | c.*485C>A (n.*485C>A) c.2109C>A (p.Thr703=) c.2082C>A (p.Thr694=) n.1524C>A c.1995C>A (p.Thr665=) c.*394C>A (n.*394C>A) c.2022C>A (p.Thr674=) c.1425C>A (p.Thr475=) c.2130C>A (p.Thr710=) c.2103C>A (p.Thr701=) | |
21 | g.37512348C= | CA2388506682 | DYRK1A | c.*485C= (n.*485C=) c.2109C= (p.Thr703=) c.2082C= (p.Thr694=) n.1524C= c.1995C= (p.Thr665=) c.*394C= (n.*394C=) c.2022C= (p.Thr674=) c.1425C= (p.Thr475=) c.2130C= (p.Thr710=) c.2103C= (p.Thr701=) | |
21 | g.37512348C>G | CA512328207 | DYRK1A | c.*485C>G (n.*485C>G) c.2109C>G (p.Thr703=) c.2082C>G (p.Thr694=) n.1524C>G c.1995C>G (p.Thr665=) c.*394C>G (n.*394C>G) c.2022C>G (p.Thr674=) c.1425C>G (p.Thr475=) c.2130C>G (p.Thr710=) c.2103C>G (p.Thr701=) | gnomAD v4 |
21 | g.37512348C>T | CA320469950 | DYRK1A | c.*485C>T (n.*485C>T) c.2109C>T (p.Thr703=) c.2082C>T (p.Thr694=) n.1524C>T c.1995C>T (p.Thr665=) c.*394C>T (n.*394C>T) c.2022C>T (p.Thr674=) c.1425C>T (p.Thr475=) c.2130C>T (p.Thr710=) c.2103C>T (p.Thr701=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.37512349G>A | CA10024159 | DYRK1A | c.*486G>A (n.*486G>A) c.2110G>A (p.Val704Ile) c.2083G>A (p.Val695Ile) n.1525G>A c.1996G>A (p.Val666Ile) c.*395G>A (n.*395G>A) c.2023G>A (p.Val675Ile) c.1426G>A (p.Val476Ile) c.2131G>A (p.Val711Ile) c.2104G>A (p.Val702Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37512349G>C | CA409940730 | DYRK1A | c.*486G>C (n.*486G>C) c.2110G>C (p.Val704Leu) c.2083G>C (p.Val695Leu) n.1525G>C c.1996G>C (p.Val666Leu) c.*395G>C (n.*395G>C) c.2023G>C (p.Val675Leu) c.1426G>C (p.Val476Leu) c.2131G>C (p.Val711Leu) c.2104G>C (p.Val702Leu) | |
21 | g.37512349G= | CA2388506683 | DYRK1A | c.*486G= (n.*486G=) c.2110G= (p.Val704=) c.2083G= (p.Val695=) n.1525G= c.1996G= (p.Val666=) c.*395G= (n.*395G=) c.2023G= (p.Val675=) c.1426G= (p.Val476=) c.2131G= (p.Val711=) c.2104G= (p.Val702=) | |
21 | g.37512349G>T | CA409940725 | DYRK1A | c.*486G>T (n.*486G>T) c.2110G>T (p.Val704Phe) c.2083G>T (p.Val695Phe) n.1525G>T c.1996G>T (p.Val666Phe) c.*395G>T (n.*395G>T) c.2023G>T (p.Val675Phe) c.1426G>T (p.Val476Phe) c.2131G>T (p.Val711Phe) c.2104G>T (p.Val702Phe) | |
21 | g.37512350T>A | CA409940733 | DYRK1A | c.*487T>A (n.*487T>A) c.2111T>A (p.Val704Asp) c.2084T>A (p.Val695Asp) n.1526T>A c.1997T>A (p.Val666Asp) c.*396T>A (n.*396T>A) c.2024T>A (p.Val675Asp) c.1427T>A (p.Val476Asp) c.2132T>A (p.Val711Asp) c.2105T>A (p.Val702Asp) | |
21 | g.37512350T>C | CA10024160 | DYRK1A | c.*487T>C (n.*487T>C) c.2111T>C (p.Val704Ala) c.2084T>C (p.Val695Ala) n.1526T>C c.1997T>C (p.Val666Ala) c.*396T>C (n.*396T>C) c.2024T>C (p.Val675Ala) c.1427T>C (p.Val476Ala) c.2132T>C (p.Val711Ala) c.2105T>C (p.Val702Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37512350T>G | CA409940745 | DYRK1A | c.*487T>G (n.*487T>G) c.2111T>G (p.Val704Gly) c.2084T>G (p.Val695Gly) n.1526T>G c.1997T>G (p.Val666Gly) c.*396T>G (n.*396T>G) c.2024T>G (p.Val675Gly) c.1427T>G (p.Val476Gly) c.2132T>G (p.Val711Gly) c.2105T>G (p.Val702Gly) | |
21 | g.37512350T= | CA2388506684 | DYRK1A | c.*487T= (n.*487T=) c.2111T= (p.Val704=) c.2084T= (p.Val695=) n.1526T= c.1997T= (p.Val666=) c.*396T= (n.*396T=) c.2024T= (p.Val675=) c.1427T= (p.Val476=) c.2132T= (p.Val711=) c.2105T= (p.Val702=) | |
21 | g.37512351C>A | CA512328210 | DYRK1A | c.*488C>A (n.*488C>A) c.2112C>A (p.Val704=) c.2085C>A (p.Val695=) n.1527C>A c.1998C>A (p.Val666=) c.*397C>A (n.*397C>A) c.2025C>A (p.Val675=) c.1428C>A (p.Val476=) c.2133C>A (p.Val711=) c.2106C>A (p.Val702=) | |
21 | g.37512351C= | CA2388506685 | DYRK1A | c.*488C= (n.*488C=) c.2112C= (p.Val704=) c.2085C= (p.Val695=) n.1527C= c.1998C= (p.Val666=) c.*397C= (n.*397C=) c.2025C= (p.Val675=) c.1428C= (p.Val476=) c.2133C= (p.Val711=) c.2106C= (p.Val702=) | |
21 | g.37512351C>G | CA10024161 | DYRK1A | c.*488C>G (n.*488C>G) c.2112C>G (p.Val704=) c.2085C>G (p.Val695=) n.1527C>G c.1998C>G (p.Val666=) c.*397C>G (n.*397C>G) c.2025C>G (p.Val675=) c.1428C>G (p.Val476=) c.2133C>G (p.Val711=) c.2106C>G (p.Val702=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37512351C>T | CA512328211 | DYRK1A | c.*488C>T (n.*488C>T) c.2112C>T (p.Val704=) c.2085C>T (p.Val695=) n.1527C>T c.1998C>T (p.Val666=) c.*397C>T (n.*397C>T) c.2025C>T (p.Val675=) c.1428C>T (p.Val476=) c.2133C>T (p.Val711=) c.2106C>T (p.Val702=) | ClinVar dbSNP |
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) | ClinVar |
21 | g.37512366C>A | CA10024168 | DYRK1A | c.*503C>A (n.*503C>A) c.2127C>A (p.Arg709=) c.2100C>A (p.Arg700=) n.1542C>A c.2013C>A (p.Arg671=) c.*412C>A (n.*412C>A) c.2040C>A (p.Arg680=) c.1443C>A (p.Arg481=) c.2148C>A (p.Arg716=) c.2121C>A (p.Arg707=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37512366C= | CA2388506694 | DYRK1A | c.*503C= (n.*503C=) c.2127C= (p.Arg709=) c.2100C= (p.Arg700=) n.1542C= c.2013C= (p.Arg671=) c.*412C= (n.*412C=) c.2040C= (p.Arg680=) c.1443C= (p.Arg481=) c.2148C= (p.Arg716=) c.2121C= (p.Arg707=) | |
21 | g.37512366C>G | CA512328246 | DYRK1A | c.*503C>G (n.*503C>G) c.2127C>G (p.Arg709=) c.2100C>G (p.Arg700=) n.1542C>G c.2013C>G (p.Arg671=) c.*412C>G (n.*412C>G) c.2040C>G (p.Arg680=) c.1443C>G (p.Arg481=) c.2148C>G (p.Arg716=) c.2121C>G (p.Arg707=) | |
21 | g.37512366C>T | CA512328249 | DYRK1A | c.*503C>T (n.*503C>T) c.2127C>T (p.Arg709=) c.2100C>T (p.Arg700=) n.1542C>T c.2013C>T (p.Arg671=) c.*412C>T (n.*412C>T) c.2040C>T (p.Arg680=) c.1443C>T (p.Arg481=) c.2148C>T (p.Arg716=) c.2121C>T (p.Arg707=) | |
21 | g.37512367C>A | CA409940886 | DYRK1A | c.*504C>A (n.*504C>A) c.2128C>A (p.Gln710Lys) c.2101C>A (p.Gln701Lys) n.1543C>A c.2014C>A (p.Gln672Lys) c.*413C>A (n.*413C>A) c.2041C>A (p.Gln681Lys) c.1444C>A (p.Gln482Lys) c.2149C>A (p.Gln717Lys) c.2122C>A (p.Gln708Lys) | |
21 | g.37512367C= | CA2388506695 | DYRK1A | c.*504C= (n.*504C=) c.2128C= (p.Gln710=) c.2101C= (p.Gln701=) n.1543C= c.2014C= (p.Gln672=) c.*413C= (n.*413C=) c.2041C= (p.Gln681=) c.1444C= (p.Gln482=) c.2149C= (p.Gln717=) c.2122C= (p.Gln708=) | |
21 | g.37512367C>G | CA409940877 | DYRK1A | c.*504C>G (n.*504C>G) c.2128C>G (p.Gln710Glu) c.2101C>G (p.Gln701Glu) n.1543C>G c.2014C>G (p.Gln672Glu) c.*413C>G (n.*413C>G) c.2041C>G (p.Gln681Glu) c.1444C>G (p.Gln482Glu) c.2149C>G (p.Gln717Glu) c.2122C>G (p.Gln708Glu) | |
21 | g.37512367C>T | CA409940887 | DYRK1A | c.*504C>T (n.*504C>T) c.2128C>T (p.Gln710Ter) c.2101C>T (p.Gln701Ter) n.1543C>T c.2014C>T (p.Gln672Ter) c.*413C>T (n.*413C>T) c.2041C>T (p.Gln681Ter) c.1444C>T (p.Gln482Ter) c.2149C>T (p.Gln717Ter) c.2122C>T (p.Gln708Ter) | dbSNP |
21 | g.37512368A>C | CA409940890 | DYRK1A | c.*505A>C (n.*505A>C) c.2129A>C (p.Gln710Pro) c.2102A>C (p.Gln701Pro) n.1544A>C c.2015A>C (p.Gln672Pro) c.*414A>C (n.*414A>C) c.2042A>C (p.Gln681Pro) c.1445A>C (p.Gln482Pro) c.2150A>C (p.Gln717Pro) c.2123A>C (p.Gln708Pro) | |
21 | g.37512368A>G | CA409940893 | DYRK1A | c.*505A>G (n.*505A>G) c.2129A>G (p.Gln710Arg) c.2102A>G (p.Gln701Arg) n.1544A>G c.2015A>G (p.Gln672Arg) c.*414A>G (n.*414A>G) c.2042A>G (p.Gln681Arg) c.1445A>G (p.Gln482Arg) c.2150A>G (p.Gln717Arg) c.2123A>G (p.Gln708Arg) | |
21 | g.37512368A>T | CA409940899 | DYRK1A | c.*505A>T (n.*505A>T) c.2129A>T (p.Gln710Leu) c.2102A>T (p.Gln701Leu) n.1544A>T c.2015A>T (p.Gln672Leu) c.*414A>T (n.*414A>T) c.2042A>T (p.Gln681Leu) c.1445A>T (p.Gln482Leu) c.2150A>T (p.Gln717Leu) c.2123A>T (p.Gln708Leu) | |
21 | g.37512368_37512369insCCAAAAACCAAACACACCCAACAC | CA2817851812 | DYRK1A | c.*505_*506insCCAAAAACCAAACACACCCAACAC (n.*505_*506insCCAAAAACCAAACACACCCAACAC) c.2129_2130insCCAAAAACCAAACACACCCAACAC (p.Gln710delinsHisGlnLysProAsnThrProAsnThr) c.2102_2103insCCAAAAACCAAACACACCCAACAC (p.Gln701delinsHisGlnLysProAsnThrProAsnThr) n.1544_1545insCCAAAAACCAAACACACCCAACAC c.2015_2016insCCAAAAACCAAACACACCCAACAC (p.Gln672delinsHisGlnLysProAsnThrProAsnThr) c.*414_*415insCCAAAAACCAAACACACCCAACAC (n.*414_*415insCCAAAAACCAAACACACCCAACAC) c.2042_2043insCCAAAAACCAAACACACCCAACAC (p.Gln681delinsHisGlnLysProAsnThrProAsnThr) c.1445_1446insCCAAAAACCAAACACACCCAACAC (p.Gln482delinsHisGlnLysProAsnThrProAsnThr) c.2150_2151insCCAAAAACCAAACACACCCAACAC (p.Gln717delinsHisGlnLysProAsnThrProAsnThr) c.2123_2124insCCAAAAACCAAACACACCCAACAC (p.Gln708delinsHisGlnLysProAsnThrProAsnThr) | |
21 | g.37512369A= | CA2388506696 | DYRK1A | c.*506A= (n.*506A=) c.2130A= (p.Gln710=) c.2103A= (p.Gln701=) n.1545A= c.2016A= (p.Gln672=) c.*415A= (n.*415A=) c.2043A= (p.Gln681=) c.1446A= (p.Gln482=) c.2151A= (p.Gln717=) c.2124A= (p.Gln708=) | |
21 | g.37512369A>C | CA409940903 | DYRK1A | c.*506A>C (n.*506A>C) c.2130A>C (p.Gln710His) c.2103A>C (p.Gln701His) n.1545A>C c.2016A>C (p.Gln672His) c.*415A>C (n.*415A>C) c.2043A>C (p.Gln681His) c.1446A>C (p.Gln482His) c.2151A>C (p.Gln717His) c.2124A>C (p.Gln708His) | |
21 | g.37512369A>G | CA320470004 | DYRK1A | c.*506A>G (n.*506A>G) c.2130A>G (p.Gln710=) c.2103A>G (p.Gln701=) n.1545A>G c.2016A>G (p.Gln672=) c.*415A>G (n.*415A>G) c.2043A>G (p.Gln681=) c.1446A>G (p.Gln482=) c.2151A>G (p.Gln717=) c.2124A>G (p.Gln708=) | ClinVar dbSNP gnomAD v4 |
21 | g.37512369A>T | CA409940907 | DYRK1A | c.*506A>T (n.*506A>T) c.2130A>T (p.Gln710His) c.2103A>T (p.Gln701His) n.1545A>T c.2016A>T (p.Gln672His) c.*415A>T (n.*415A>T) c.2043A>T (p.Gln681His) c.1446A>T (p.Gln482His) c.2151A>T (p.Gln717His) c.2124A>T (p.Gln708His) | |
21 | g.37512370G>A | CA409940916 | DYRK1A | c.*507G>A (n.*507G>A) c.2131G>A (p.Glu711Lys) c.2104G>A (p.Glu702Lys) n.1546G>A c.2017G>A (p.Glu673Lys) c.*416G>A (n.*416G>A) c.2044G>A (p.Glu682Lys) c.1447G>A (p.Glu483Lys) c.2152G>A (p.Glu718Lys) c.2125G>A (p.Glu709Lys) | gnomAD v4 |
21 | g.37512370G>C | CA409940918 | DYRK1A | c.*507G>C (n.*507G>C) c.2131G>C (p.Glu711Gln) c.2104G>C (p.Glu702Gln) n.1546G>C c.2017G>C (p.Glu673Gln) c.*416G>C (n.*416G>C) c.2044G>C (p.Glu682Gln) c.1447G>C (p.Glu483Gln) c.2152G>C (p.Glu718Gln) c.2125G>C (p.Glu709Gln) | |
21 | g.37512370G= | CA2388506697 | DYRK1A | c.*507G= (n.*507G=) c.2131G= (p.Glu711=) c.2104G= (p.Glu702=) n.1546G= c.2017G= (p.Glu673=) c.*416G= (n.*416G=) c.2044G= (p.Glu682=) c.1447G= (p.Glu483=) c.2152G= (p.Glu718=) c.2125G= (p.Glu709=) | |
21 | g.37512370G>T | CA409940922 | DYRK1A | c.*507G>T (n.*507G>T) c.2131G>T (p.Glu711Ter) c.2104G>T (p.Glu702Ter) n.1546G>T c.2017G>T (p.Glu673Ter) c.*416G>T (n.*416G>T) c.2044G>T (p.Glu682Ter) c.1447G>T (p.Glu483Ter) c.2152G>T (p.Glu718Ter) c.2125G>T (p.Glu709Ter) | dbSNP |
21 | g.37512371A>C | CA409940923 | DYRK1A | c.*508A>C (n.*508A>C) c.2132A>C (p.Glu711Ala) c.2105A>C (p.Glu702Ala) n.1547A>C c.2018A>C (p.Glu673Ala) c.*417A>C (n.*417A>C) c.2045A>C (p.Glu682Ala) c.1448A>C (p.Glu483Ala) c.2153A>C (p.Glu718Ala) c.2126A>C (p.Glu709Ala) | |
21 | g.37512371A>G | CA409940925 | DYRK1A | c.*508A>G (n.*508A>G) c.2132A>G (p.Glu711Gly) c.2105A>G (p.Glu702Gly) n.1547A>G c.2018A>G (p.Glu673Gly) c.*417A>G (n.*417A>G) c.2045A>G (p.Glu682Gly) c.1448A>G (p.Glu483Gly) c.2153A>G (p.Glu718Gly) c.2126A>G (p.Glu709Gly) | gnomAD v4 |
21 | g.37512371A>T | CA409940926 | DYRK1A | c.*508A>T (n.*508A>T) c.2132A>T (p.Glu711Val) c.2105A>T (p.Glu702Val) n.1547A>T c.2018A>T (p.Glu673Val) c.*417A>T (n.*417A>T) c.2045A>T (p.Glu682Val) c.1448A>T (p.Glu483Val) c.2153A>T (p.Glu718Val) c.2126A>T (p.Glu709Val) | |
21 | g.37512372G>A | CA512328257 | DYRK1A | c.*509G>A (n.*509G>A) c.2133G>A (p.Glu711=) c.2106G>A (p.Glu702=) n.1548G>A c.2019G>A (p.Glu673=) c.*418G>A (n.*418G>A) c.2046G>A (p.Glu682=) c.1449G>A (p.Glu483=) c.2154G>A (p.Glu718=) c.2127G>A (p.Glu709=) | |
21 | g.37512372G>C | CA409940936 | DYRK1A | c.*509G>C (n.*509G>C) c.2133G>C (p.Glu711Asp) c.2106G>C (p.Glu702Asp) n.1548G>C c.2019G>C (p.Glu673Asp) c.*418G>C (n.*418G>C) c.2046G>C (p.Glu682Asp) c.1449G>C (p.Glu483Asp) c.2154G>C (p.Glu718Asp) c.2127G>C (p.Glu709Asp) | |
21 | g.37512372G>T | CA409940933 | DYRK1A | c.*509G>T (n.*509G>T) c.2133G>T (p.Glu711Asp) c.2106G>T (p.Glu702Asp) n.1548G>T c.2019G>T (p.Glu673Asp) c.*418G>T (n.*418G>T) c.2046G>T (p.Glu682Asp) c.1449G>T (p.Glu483Asp) c.2154G>T (p.Glu718Asp) c.2127G>T (p.Glu709Asp) | gnomAD v4 |
21 | g.37512373A>C | CA409940940 | DYRK1A | c.*510A>C (n.*510A>C) c.2134A>C (p.Thr712Pro) c.2107A>C (p.Thr703Pro) n.1549A>C c.2020A>C (p.Thr674Pro) c.*419A>C (n.*419A>C) c.2047A>C (p.Thr683Pro) c.1450A>C (p.Thr484Pro) c.2155A>C (p.Thr719Pro) c.2128A>C (p.Thr710Pro) | |
21 | g.37512373A>G | CA409940942 | DYRK1A | c.*510A>G (n.*510A>G) c.2134A>G (p.Thr712Ala) c.2107A>G (p.Thr703Ala) n.1549A>G c.2020A>G (p.Thr674Ala) c.*419A>G (n.*419A>G) c.2047A>G (p.Thr683Ala) c.1450A>G (p.Thr484Ala) c.2155A>G (p.Thr719Ala) c.2128A>G (p.Thr710Ala) | |
21 | g.37512373A>T | CA409940946 | DYRK1A | c.*510A>T (n.*510A>T) c.2134A>T (p.Thr712Ser) c.2107A>T (p.Thr703Ser) n.1549A>T c.2020A>T (p.Thr674Ser) c.*419A>T (n.*419A>T) c.2047A>T (p.Thr683Ser) c.1450A>T (p.Thr484Ser) c.2155A>T (p.Thr719Ser) c.2128A>T (p.Thr710Ser) | |
21 | g.37512374C>A | CA409940950 | DYRK1A | c.*511C>A (n.*511C>A) c.2135C>A (p.Thr712Asn) c.2108C>A (p.Thr703Asn) n.1550C>A c.2021C>A (p.Thr674Asn) c.*420C>A (n.*420C>A) c.2048C>A (p.Thr683Asn) c.1451C>A (p.Thr484Asn) c.2156C>A (p.Thr719Asn) c.2129C>A (p.Thr710Asn) | |
21 | g.37512374C>G | CA409940954 | DYRK1A | c.*511C>G (n.*511C>G) c.2135C>G (p.Thr712Ser) c.2108C>G (p.Thr703Ser) n.1550C>G c.2021C>G (p.Thr674Ser) c.*420C>G (n.*420C>G) c.2048C>G (p.Thr683Ser) c.1451C>G (p.Thr484Ser) c.2156C>G (p.Thr719Ser) c.2129C>G (p.Thr710Ser) | |
21 | g.37512374C>T | CA409940955 | DYRK1A | c.*511C>T (n.*511C>T) c.2135C>T (p.Thr712Ile) c.2108C>T (p.Thr703Ile) n.1550C>T c.2021C>T (p.Thr674Ile) c.*420C>T (n.*420C>T) c.2048C>T (p.Thr683Ile) c.1451C>T (p.Thr484Ile) c.2156C>T (p.Thr719Ile) c.2129C>T (p.Thr710Ile) | |
21 | g.37512375T>A | CA512328265 | DYRK1A | c.*512T>A (n.*512T>A) c.2136T>A (p.Thr712=) c.2109T>A (p.Thr703=) n.1551T>A c.2022T>A (p.Thr674=) c.*421T>A (n.*421T>A) c.2049T>A (p.Thr683=) c.1452T>A (p.Thr484=) c.2157T>A (p.Thr719=) c.2130T>A (p.Thr710=) | |
21 | g.37512375T>C | CA512328266 | DYRK1A | c.*512T>C (n.*512T>C) c.2136T>C (p.Thr712=) c.2109T>C (p.Thr703=) n.1551T>C c.2022T>C (p.Thr674=) c.*421T>C (n.*421T>C) c.2049T>C (p.Thr683=) c.1452T>C (p.Thr484=) c.2157T>C (p.Thr719=) c.2130T>C (p.Thr710=) | gnomAD v4 |
21 | g.37512375T>G | CA512328268 | DYRK1A | c.*512T>G (n.*512T>G) c.2136T>G (p.Thr712=) c.2109T>G (p.Thr703=) n.1551T>G c.2022T>G (p.Thr674=) c.*421T>G (n.*421T>G) c.2049T>G (p.Thr683=) c.1452T>G (p.Thr484=) c.2157T>G (p.Thr719=) c.2130T>G (p.Thr710=) | |
21 | g.37512376G>A | CA409940958 | DYRK1A | c.*513G>A (n.*513G>A) c.2137G>A (p.Gly713Ser) c.2110G>A (p.Gly704Ser) n.1552G>A c.2023G>A (p.Gly675Ser) c.*422G>A (n.*422G>A) c.2050G>A (p.Gly684Ser) c.1453G>A (p.Gly485Ser) c.2158G>A (p.Gly720Ser) c.2131G>A (p.Gly711Ser) | gnomAD v4 |
21 | g.37512376G>C | CA409940961 | DYRK1A | c.*513G>C (n.*513G>C) c.2137G>C (p.Gly713Arg) c.2110G>C (p.Gly704Arg) n.1552G>C c.2023G>C (p.Gly675Arg) c.*422G>C (n.*422G>C) c.2050G>C (p.Gly684Arg) c.1453G>C (p.Gly485Arg) c.2158G>C (p.Gly720Arg) c.2131G>C (p.Gly711Arg) | |
21 | g.37512376G>T | CA409940964 | DYRK1A | c.*513G>T (n.*513G>T) c.2137G>T (p.Gly713Cys) c.2110G>T (p.Gly704Cys) n.1552G>T c.2023G>T (p.Gly675Cys) c.*422G>T (n.*422G>T) c.2050G>T (p.Gly684Cys) c.1453G>T (p.Gly485Cys) c.2158G>T (p.Gly720Cys) c.2131G>T (p.Gly711Cys) | |
21 | g.37512377G>A | CA409940969 | DYRK1A | c.*514G>A (n.*514G>A) c.2138G>A (p.Gly713Asp) c.2111G>A (p.Gly704Asp) n.1553G>A c.2024G>A (p.Gly675Asp) c.*423G>A (n.*423G>A) c.2051G>A (p.Gly684Asp) c.1454G>A (p.Gly485Asp) c.2159G>A (p.Gly720Asp) c.2132G>A (p.Gly711Asp) | COSMIC |
21 | g.37512377G>C | CA409940972 | DYRK1A | c.*514G>C (n.*514G>C) c.2138G>C (p.Gly713Ala) c.2111G>C (p.Gly704Ala) n.1553G>C c.2024G>C (p.Gly675Ala) c.*423G>C (n.*423G>C) c.2051G>C (p.Gly684Ala) c.1454G>C (p.Gly485Ala) c.2159G>C (p.Gly720Ala) c.2132G>C (p.Gly711Ala) | |
21 | g.37512377G>T | CA409940975 | DYRK1A | c.*514G>T (n.*514G>T) c.2138G>T (p.Gly713Val) c.2111G>T (p.Gly704Val) n.1553G>T c.2024G>T (p.Gly675Val) c.*423G>T (n.*423G>T) c.2051G>T (p.Gly684Val) c.1454G>T (p.Gly485Val) c.2159G>T (p.Gly720Val) c.2132G>T (p.Gly711Val) | |
21 | g.37512378C>A | CA512328272 | DYRK1A | c.*515C>A (n.*515C>A) c.2139C>A (p.Gly713=) c.2112C>A (p.Gly704=) n.1554C>A c.2025C>A (p.Gly675=) c.*424C>A (n.*424C>A) c.2052C>A (p.Gly684=) c.1455C>A (p.Gly485=) c.2160C>A (p.Gly720=) c.2133C>A (p.Gly711=) | |
21 | g.37512378C>G | CA512328274 | DYRK1A | c.*515C>G (n.*515C>G) c.2139C>G (p.Gly713=) c.2112C>G (p.Gly704=) n.1554C>G c.2025C>G (p.Gly675=) c.*424C>G (n.*424C>G) c.2052C>G (p.Gly684=) c.1455C>G (p.Gly485=) c.2160C>G (p.Gly720=) c.2133C>G (p.Gly711=) | |
21 | g.37512378C>T | CA512328273 | DYRK1A | c.*515C>T (n.*515C>T) c.2139C>T (p.Gly713=) c.2112C>T (p.Gly704=) n.1554C>T c.2025C>T (p.Gly675=) c.*424C>T (n.*424C>T) c.2052C>T (p.Gly684=) c.1455C>T (p.Gly485=) c.2160C>T (p.Gly720=) c.2133C>T (p.Gly711=) | gnomAD v4 COSMIC |
21 | g.37512379A= | CA2388506698 | DYRK1A | c.*516A= (n.*516A=) c.2140A= (p.Ile714=) c.2113A= (p.Ile705=) n.1555A= c.2026A= (p.Ile676=) c.*425A= (n.*425A=) c.2053A= (p.Ile685=) c.1456A= (p.Ile486=) c.2161A= (p.Ile721=) c.2134A= (p.Ile712=) | |
21 | g.37512379A>C | CA409940983 | DYRK1A | c.*516A>C (n.*516A>C) c.2140A>C (p.Ile714Leu) c.2113A>C (p.Ile705Leu) n.1555A>C c.2026A>C (p.Ile676Leu) c.*425A>C (n.*425A>C) c.2053A>C (p.Ile685Leu) c.1456A>C (p.Ile486Leu) c.2161A>C (p.Ile721Leu) c.2134A>C (p.Ile712Leu) | |
21 | g.37512379A>G | CA10024169 | DYRK1A | c.*516A>G (n.*516A>G) c.2140A>G (p.Ile714Val) c.2113A>G (p.Ile705Val) n.1555A>G c.2026A>G (p.Ile676Val) c.*425A>G (n.*425A>G) c.2053A>G (p.Ile685Val) c.1456A>G (p.Ile486Val) c.2161A>G (p.Ile721Val) c.2134A>G (p.Ile712Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.37512379A>T | CA409940981 | DYRK1A | c.*516A>T (n.*516A>T) c.2140A>T (p.Ile714Leu) c.2113A>T (p.Ile705Leu) n.1555A>T c.2026A>T (p.Ile676Leu) c.*425A>T (n.*425A>T) c.2053A>T (p.Ile685Leu) c.1456A>T (p.Ile486Leu) c.2161A>T (p.Ile721Leu) c.2134A>T (p.Ile712Leu) | |
21 | g.37512380T>A | CA409940990 | DYRK1A | c.*517T>A (n.*517T>A) c.2141T>A (p.Ile714Lys) c.2114T>A (p.Ile705Lys) n.1556T>A c.2027T>A (p.Ile676Lys) c.*426T>A (n.*426T>A) c.2054T>A (p.Ile685Lys) c.1457T>A (p.Ile486Lys) c.2162T>A (p.Ile721Lys) c.2135T>A (p.Ile712Lys) | |
21 | g.37512380T>C | CA409940992 | DYRK1A | c.*517T>C (n.*517T>C) c.2141T>C (p.Ile714Thr) c.2114T>C (p.Ile705Thr) n.1556T>C c.2027T>C (p.Ile676Thr) c.*426T>C (n.*426T>C) c.2054T>C (p.Ile685Thr) c.1457T>C (p.Ile486Thr) c.2162T>C (p.Ile721Thr) c.2135T>C (p.Ile712Thr) | |
21 | g.37512380T>G | CA409940993 | DYRK1A | c.*517T>G (n.*517T>G) c.2141T>G (p.Ile714Arg) c.2114T>G (p.Ile705Arg) n.1556T>G c.2027T>G (p.Ile676Arg) c.*426T>G (n.*426T>G) c.2054T>G (p.Ile685Arg) c.1457T>G (p.Ile486Arg) c.2162T>G (p.Ile721Arg) c.2135T>G (p.Ile712Arg) | |
21 | g.37512381A= | CA2388506699 | DYRK1A | c.*518A= (n.*518A=) c.2142A= (p.Ile714=) c.2115A= (p.Ile705=) n.1557A= c.2028A= (p.Ile676=) c.*427A= (n.*427A=) c.2055A= (p.Ile685=) c.1458A= (p.Ile486=) c.2163A= (p.Ile721=) c.2136A= (p.Ile712=) | |
21 | g.37512381A>C | CA512328279 | DYRK1A | c.*518A>C (n.*518A>C) c.2142A>C (p.Ile714=) c.2115A>C (p.Ile705=) n.1557A>C c.2028A>C (p.Ile676=) c.*427A>C (n.*427A>C) c.2055A>C (p.Ile685=) c.1458A>C (p.Ile486=) c.2163A>C (p.Ile721=) c.2136A>C (p.Ile712=) | |
21 | g.37512381A>G | CA409940996 | DYRK1A | c.*518A>G (n.*518A>G) c.2142A>G (p.Ile714Met) c.2115A>G (p.Ile705Met) n.1557A>G c.2028A>G (p.Ile676Met) c.*427A>G (n.*427A>G) c.2055A>G (p.Ile685Met) c.1458A>G (p.Ile486Met) c.2163A>G (p.Ile721Met) c.2136A>G (p.Ile712Met) | dbSNP |
21 | g.37512381A>T | CA512328278 | DYRK1A | c.*518A>T (n.*518A>T) c.2142A>T (p.Ile714=) c.2115A>T (p.Ile705=) n.1557A>T c.2028A>T (p.Ile676=) c.*427A>T (n.*427A>T) c.2055A>T (p.Ile685=) c.1458A>T (p.Ile486=) c.2163A>T (p.Ile721=) c.2136A>T (p.Ile712=) | |
21 | g.37512382G>A | CA409940999 | DYRK1A | c.*519G>A (n.*519G>A) c.2143G>A (p.Ala715Thr) c.2116G>A (p.Ala706Thr) n.1558G>A c.2029G>A (p.Ala677Thr) c.*428G>A (n.*428G>A) c.2056G>A (p.Ala686Thr) c.1459G>A (p.Ala487Thr) c.2164G>A (p.Ala722Thr) c.2137G>A (p.Ala713Thr) | |
21 | g.37512382G>C | CA409941005 | DYRK1A | c.*519G>C (n.*519G>C) c.2143G>C (p.Ala715Pro) c.2116G>C (p.Ala706Pro) n.1558G>C c.2029G>C (p.Ala677Pro) c.*428G>C (n.*428G>C) c.2056G>C (p.Ala686Pro) c.1459G>C (p.Ala487Pro) c.2164G>C (p.Ala722Pro) c.2137G>C (p.Ala713Pro) | |
21 | g.37512382G>T | CA409941007 | DYRK1A | c.*519G>T (n.*519G>T) c.2143G>T (p.Ala715Ser) c.2116G>T (p.Ala706Ser) n.1558G>T c.2029G>T (p.Ala677Ser) c.*428G>T (n.*428G>T) c.2056G>T (p.Ala686Ser) c.1459G>T (p.Ala487Ser) c.2164G>T (p.Ala722Ser) c.2137G>T (p.Ala713Ser) | |
21 | g.37512383C>A | CA409941009 | DYRK1A | c.*520C>A (n.*520C>A) c.2144C>A (p.Ala715Asp) c.2117C>A (p.Ala706Asp) n.1559C>A c.2030C>A (p.Ala677Asp) c.*429C>A (n.*429C>A) c.2057C>A (p.Ala686Asp) c.1460C>A (p.Ala487Asp) c.2165C>A (p.Ala722Asp) c.2138C>A (p.Ala713Asp) | |
21 | g.37512383C>G | CA409941012 | DYRK1A | c.*520C>G (n.*520C>G) c.2144C>G (p.Ala715Gly) c.2117C>G (p.Ala706Gly) n.1559C>G c.2030C>G (p.Ala677Gly) c.*429C>G (n.*429C>G) c.2057C>G (p.Ala686Gly) c.1460C>G (p.Ala487Gly) c.2165C>G (p.Ala722Gly) c.2138C>G (p.Ala713Gly) | |
21 | g.37512383C>T | CA409941014 | DYRK1A | c.*520C>T (n.*520C>T) c.2144C>T (p.Ala715Val) c.2117C>T (p.Ala706Val) n.1559C>T c.2030C>T (p.Ala677Val) c.*429C>T (n.*429C>T) c.2057C>T (p.Ala686Val) c.1460C>T (p.Ala487Val) c.2165C>T (p.Ala722Val) c.2138C>T (p.Ala713Val) | gnomAD v4 |
21 | g.37512384T>A | CA512328283 | DYRK1A | c.*521T>A (n.*521T>A) c.2145T>A (p.Ala715=) c.2118T>A (p.Ala706=) n.1560T>A c.2031T>A (p.Ala677=) c.*430T>A (n.*430T>A) c.2058T>A (p.Ala686=) c.1461T>A (p.Ala487=) c.2166T>A (p.Ala722=) c.2139T>A (p.Ala713=) | |
21 | g.37512384T>C | CA10024170 | DYRK1A | c.*521T>C (n.*521T>C) c.2145T>C (p.Ala715=) c.2118T>C (p.Ala706=) n.1560T>C c.2031T>C (p.Ala677=) c.*430T>C (n.*430T>C) c.2058T>C (p.Ala686=) c.1461T>C (p.Ala487=) c.2166T>C (p.Ala722=) c.2139T>C (p.Ala713=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.37512384T>G | CA512328284 | DYRK1A | c.*521T>G (n.*521T>G) c.2145T>G (p.Ala715=) c.2118T>G (p.Ala706=) n.1560T>G c.2031T>G (p.Ala677=) c.*430T>G (n.*430T>G) c.2058T>G (p.Ala686=) c.1461T>G (p.Ala487=) c.2166T>G (p.Ala722=) c.2139T>G (p.Ala713=) | |
21 | g.37512384T= | CA2388506700 | DYRK1A | c.*521T= (n.*521T=) c.2145T= (p.Ala715=) c.2118T= (p.Ala706=) n.1560T= c.2031T= (p.Ala677=) c.*430T= (n.*430T=) c.2058T= (p.Ala686=) c.1461T= (p.Ala487=) c.2166T= (p.Ala722=) c.2139T= (p.Ala713=) | |
21 | g.37512385G>A | CA409941018 | DYRK1A | c.*522G>A (n.*522G>A) c.2146G>A (p.Gly716Arg) c.2119G>A (p.Gly707Arg) n.1561G>A c.2032G>A (p.Gly678Arg) c.*431G>A (n.*431G>A) c.2059G>A (p.Gly687Arg) c.1462G>A (p.Gly488Arg) c.2167G>A (p.Gly723Arg) c.2140G>A (p.Gly714Arg) | |
21 | g.37512385G>C | CA409941022 | DYRK1A | c.*522G>C (n.*522G>C) c.2146G>C (p.Gly716Arg) c.2119G>C (p.Gly707Arg) n.1561G>C c.2032G>C (p.Gly678Arg) c.*431G>C (n.*431G>C) c.2059G>C (p.Gly687Arg) c.1462G>C (p.Gly488Arg) c.2167G>C (p.Gly723Arg) c.2140G>C (p.Gly714Arg) | |
21 | g.37512385G= | CA2388506701 | DYRK1A | c.*522G= (n.*522G=) c.2146G= (p.Gly716=) c.2119G= (p.Gly707=) n.1561G= c.2032G= (p.Gly678=) c.*431G= (n.*431G=) c.2059G= (p.Gly687=) c.1462G= (p.Gly488=) c.2167G= (p.Gly723=) c.2140G= (p.Gly714=) | |
21 | g.37512385G>T | CA409941017 | DYRK1A | c.*522G>T (n.*522G>T) c.2146G>T (p.Gly716Ter) c.2119G>T (p.Gly707Ter) n.1561G>T c.2032G>T (p.Gly678Ter) c.*431G>T (n.*431G>T) c.2059G>T (p.Gly687Ter) c.1462G>T (p.Gly488Ter) c.2167G>T (p.Gly723Ter) c.2140G>T (p.Gly714Ter) | dbSNP |
21 | g.37512386G>A | CA409941027 | DYRK1A | c.*523G>A (n.*523G>A) c.2147G>A (p.Gly716Glu) c.2120G>A (p.Gly707Glu) n.1562G>A c.2033G>A (p.Gly678Glu) c.*432G>A (n.*432G>A) c.2060G>A (p.Gly687Glu) c.1463G>A (p.Gly488Glu) c.2168G>A (p.Gly723Glu) c.2141G>A (p.Gly714Glu) | |
21 | g.37512386G>C | CA409941030 | DYRK1A | c.*523G>C (n.*523G>C) c.2147G>C (p.Gly716Ala) c.2120G>C (p.Gly707Ala) n.1562G>C c.2033G>C (p.Gly678Ala) c.*432G>C (n.*432G>C) c.2060G>C (p.Gly687Ala) c.1463G>C (p.Gly488Ala) c.2168G>C (p.Gly723Ala) c.2141G>C (p.Gly714Ala) | |
21 | g.37512386G>T | CA409941032 | DYRK1A | c.*523G>T (n.*523G>T) c.2147G>T (p.Gly716Val) c.2120G>T (p.Gly707Val) n.1562G>T c.2033G>T (p.Gly678Val) c.*432G>T (n.*432G>T) c.2060G>T (p.Gly687Val) c.1463G>T (p.Gly488Val) c.2168G>T (p.Gly723Val) c.2141G>T (p.Gly714Val) | |
21 | g.37512387A>C | CA512328289 | DYRK1A | c.*524A>C (n.*524A>C) c.2148A>C (p.Gly716=) c.2121A>C (p.Gly707=) n.1563A>C c.2034A>C (p.Gly678=) c.*433A>C (n.*433A>C) c.2061A>C (p.Gly687=) c.1464A>C (p.Gly488=) c.2169A>C (p.Gly723=) c.2142A>C (p.Gly714=) | |
21 | g.37512387A>G | CA512328290 | DYRK1A | c.*524A>G (n.*524A>G) c.2148A>G (p.Gly716=) c.2121A>G (p.Gly707=) n.1563A>G c.2034A>G (p.Gly678=) c.*433A>G (n.*433A>G) c.2061A>G (p.Gly687=) c.1464A>G (p.Gly488=) c.2169A>G (p.Gly723=) c.2142A>G (p.Gly714=) | |
21 | g.37512387A>T | CA512328291 | DYRK1A | c.*524A>T (n.*524A>T) c.2148A>T (p.Gly716=) c.2121A>T (p.Gly707=) n.1563A>T c.2034A>T (p.Gly678=) c.*433A>T (n.*433A>T) c.2061A>T (p.Gly687=) c.1464A>T (p.Gly488=) c.2169A>T (p.Gly723=) c.2142A>T (p.Gly714=) |