WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156879262G>A | CA235758 | NTRK1 | c.1766G>A (p.Arg589Gln) c.*538G>A (n.*538G>A) c.1946G>A (p.Arg649Gln) c.1937G>A (p.Arg646Gln) c.1928G>A (p.Arg643Gln) c.1838G>A (p.Arg613Gln) n.2399G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.156879262G>C | CA342939869 | NTRK1 | c.1766G>C (p.Arg589Pro) c.*538G>C (n.*538G>C) c.1946G>C (p.Arg649Pro) c.1937G>C (p.Arg646Pro) c.1928G>C (p.Arg643Pro) c.1838G>C (p.Arg613Pro) n.2399G>C | dbSNP |
| 1 | g.156879262G= | CA1200787267 | NTRK1 | c.1766G= (p.Arg589=) c.*538G= (n.*538G=) c.1946G= (p.Arg649=) c.1937G= (p.Arg646=) c.1928G= (p.Arg643=) c.1838G= (p.Arg613=) n.2399G= | |
| 1 | g.156879262G>T | CA342939871 | NTRK1 | c.1766G>T (p.Arg589Leu) c.*538G>T (n.*538G>T) c.1946G>T (p.Arg649Leu) c.1937G>T (p.Arg646Leu) c.1928G>T (p.Arg643Leu) c.1838G>T (p.Arg613Leu) n.2399G>T | ClinVar dbSNP |
| 1 | g.156879262_156879385del | CA2586964246 | NTRK1 | c.1766_1866+23del c.*538_*638+23del c.1946_2046+23del c.1937_2037+23del c.1928_2028+23del c.1838_1938+23del n.2399_2499+23del | |
| 1 | g.156879263G>A | CA421271829 | NTRK1 | c.1767G>A (p.Arg589=) c.*539G>A (n.*539G>A) c.1947G>A (p.Arg649=) c.1938G>A (p.Arg646=) c.1929G>A (p.Arg643=) c.1839G>A (p.Arg613=) n.2400G>A | dbSNP |
| 1 | g.156879263G>C | CA421271830 | NTRK1 | c.1767G>C (p.Arg589=) c.*539G>C (n.*539G>C) c.1947G>C (p.Arg649=) c.1938G>C (p.Arg646=) c.1929G>C (p.Arg643=) c.1839G>C (p.Arg613=) n.2400G>C | dbSNP |
| 1 | g.156879263G>T | CA421271831 | NTRK1 | c.1767G>T (p.Arg589=) c.*539G>T (n.*539G>T) c.1947G>T (p.Arg649=) c.1938G>T (p.Arg646=) c.1929G>T (p.Arg643=) c.1839G>T (p.Arg613=) n.2400G>T | |
| 1 | g.156879264G>A | CA342939873 | NTRK1 | c.1768G>A (p.Asp590Asn) c.*540G>A (n.*540G>A) c.1948G>A (p.Asp650Asn) c.1939G>A (p.Asp647Asn) c.1930G>A (p.Asp644Asn) c.1840G>A (p.Asp614Asn) n.2401G>A | gnomAD v4 COSMIC COSMIC |
| 1 | g.156879264G>C | CA342939875 | NTRK1 | c.1768G>C (p.Asp590His) c.*540G>C (n.*540G>C) c.1948G>C (p.Asp650His) c.1939G>C (p.Asp647His) c.1930G>C (p.Asp644His) c.1840G>C (p.Asp614His) n.2401G>C | |
| 1 | g.156879264G>T | CA342939877 | NTRK1 | c.1768G>T (p.Asp590Tyr) c.*540G>T (n.*540G>T) c.1948G>T (p.Asp650Tyr) c.1939G>T (p.Asp647Tyr) c.1930G>T (p.Asp644Tyr) c.1840G>T (p.Asp614Tyr) n.2401G>T | |
| 1 | g.156879265A>C | CA342939880 | NTRK1 | c.1769A>C (p.Asp590Ala) c.*541A>C (n.*541A>C) c.1949A>C (p.Asp650Ala) c.1940A>C (p.Asp647Ala) c.1931A>C (p.Asp644Ala) c.1841A>C (p.Asp614Ala) n.2402A>C | dbSNP |
| 1 | g.156879265A>G | CA342939884 | NTRK1 | c.1769A>G (p.Asp590Gly) c.*541A>G (n.*541A>G) c.1949A>G (p.Asp650Gly) c.1940A>G (p.Asp647Gly) c.1931A>G (p.Asp644Gly) c.1841A>G (p.Asp614Gly) n.2402A>G | dbSNP |
| 1 | g.156879265A>T | CA342939882 | NTRK1 | c.1769A>T (p.Asp590Val) c.*541A>T (n.*541A>T) c.1949A>T (p.Asp650Val) c.1940A>T (p.Asp647Val) c.1931A>T (p.Asp644Val) c.1841A>T (p.Asp614Val) n.2402A>T | dbSNP |
| 1 | g.156879266C>A | CA342939886 | NTRK1 | c.1770C>A (p.Asp590Glu) c.*542C>A (n.*542C>A) c.1950C>A (p.Asp650Glu) c.1941C>A (p.Asp647Glu) c.1932C>A (p.Asp644Glu) c.1842C>A (p.Asp614Glu) n.2403C>A | |
| 1 | g.156879266C>G | CA342939887 | NTRK1 | c.1770C>G (p.Asp590Glu) c.*542C>G (n.*542C>G) c.1950C>G (p.Asp650Glu) c.1941C>G (p.Asp647Glu) c.1932C>G (p.Asp644Glu) c.1842C>G (p.Asp614Glu) n.2403C>G | dbSNP |
| 1 | g.156879266C>T | CA421271835 | NTRK1 | c.1770C>T (p.Asp590=) c.*542C>T (n.*542C>T) c.1950C>T (p.Asp650=) c.1941C>T (p.Asp647=) c.1932C>T (p.Asp644=) c.1842C>T (p.Asp614=) n.2403C>T | dbSNP |
| 1 | g.156879267C>A | CA342939891 | NTRK1 | c.1771C>A (p.Leu591Met) c.*543C>A (n.*543C>A) c.1951C>A (p.Leu651Met) c.1942C>A (p.Leu648Met) c.1933C>A (p.Leu645Met) c.1843C>A (p.Leu615Met) n.2404C>A | dbSNP |
| 1 | g.156879267C>G | CA342939892 | NTRK1 | c.1771C>G (p.Leu591Val) c.*543C>G (n.*543C>G) c.1951C>G (p.Leu651Val) c.1942C>G (p.Leu648Val) c.1933C>G (p.Leu645Val) c.1843C>G (p.Leu615Val) n.2404C>G | dbSNP |
| 1 | g.156879267C>T | CA421271836 | NTRK1 | c.1771C>T (p.Leu591=) c.*543C>T (n.*543C>T) c.1951C>T (p.Leu651=) c.1942C>T (p.Leu648=) c.1933C>T (p.Leu645=) c.1843C>T (p.Leu615=) n.2404C>T | dbSNP |
| 1 | g.156879268T>A | CA342939895 | NTRK1 | c.1772T>A (p.Leu591Gln) c.*544T>A (n.*544T>A) c.1952T>A (p.Leu651Gln) c.1943T>A (p.Leu648Gln) c.1934T>A (p.Leu645Gln) c.1844T>A (p.Leu615Gln) n.2405T>A | |
| 1 | g.156879268T>C | CA342939897 | NTRK1 | c.1772T>C (p.Leu591Pro) c.*544T>C (n.*544T>C) c.1952T>C (p.Leu651Pro) c.1943T>C (p.Leu648Pro) c.1934T>C (p.Leu645Pro) c.1844T>C (p.Leu615Pro) n.2405T>C | |
| 1 | g.156879268T>G | CA342939898 | NTRK1 | c.1772T>G (p.Leu591Arg) c.*544T>G (n.*544T>G) c.1952T>G (p.Leu651Arg) c.1943T>G (p.Leu648Arg) c.1934T>G (p.Leu645Arg) c.1844T>G (p.Leu615Arg) n.2405T>G | |
| 1 | g.156879269G>A | CA421271839 | NTRK1 | c.1773G>A (p.Leu591=) c.*545G>A (n.*545G>A) c.1953G>A (p.Leu651=) c.1944G>A (p.Leu648=) c.1935G>A (p.Leu645=) c.1845G>A (p.Leu615=) n.2406G>A | dbSNP |
| 1 | g.156879269G>C | CA421271840 | NTRK1 | c.1773G>C (p.Leu591=) c.*545G>C (n.*545G>C) c.1953G>C (p.Leu651=) c.1944G>C (p.Leu648=) c.1935G>C (p.Leu645=) c.1845G>C (p.Leu615=) n.2406G>C | dbSNP |
| 1 | g.156879269G>T | CA421271841 | NTRK1 | c.1773G>T (p.Leu591=) c.*545G>T (n.*545G>T) c.1953G>T (p.Leu651=) c.1944G>T (p.Leu648=) c.1935G>T (p.Leu645=) c.1845G>T (p.Leu615=) n.2406G>T | dbSNP |
| 1 | g.156879270G>A | CA342939900 | NTRK1 | c.1774G>A (p.Ala592Thr) c.*546G>A (n.*546G>A) c.1954G>A (p.Ala652Thr) c.1945G>A (p.Ala649Thr) c.1936G>A (p.Ala646Thr) c.1846G>A (p.Ala616Thr) n.2407G>A | |
| 1 | g.156879270G>C | CA342939901 | NTRK1 | c.1774G>C (p.Ala592Pro) c.*546G>C (n.*546G>C) c.1954G>C (p.Ala652Pro) c.1945G>C (p.Ala649Pro) c.1936G>C (p.Ala646Pro) c.1846G>C (p.Ala616Pro) n.2407G>C | |
| 1 | g.156879270G>T | CA342939903 | NTRK1 | c.1774G>T (p.Ala592Ser) c.*546G>T (n.*546G>T) c.1954G>T (p.Ala652Ser) c.1945G>T (p.Ala649Ser) c.1936G>T (p.Ala646Ser) c.1846G>T (p.Ala616Ser) n.2407G>T | |
| 1 | g.156879271C>A | CA342939904 | NTRK1 | c.1775C>A (p.Ala592Asp) c.*547C>A (n.*547C>A) c.1955C>A (p.Ala652Asp) c.1946C>A (p.Ala649Asp) c.1937C>A (p.Ala646Asp) c.1847C>A (p.Ala616Asp) n.2408C>A | |
| 1 | g.156879271C>G | CA342939905 | NTRK1 | c.1775C>G (p.Ala592Gly) c.*547C>G (n.*547C>G) c.1955C>G (p.Ala652Gly) c.1946C>G (p.Ala649Gly) c.1937C>G (p.Ala646Gly) c.1847C>G (p.Ala616Gly) n.2408C>G | dbSNP |
| 1 | g.156879271C>T | CA342939906 | NTRK1 | c.1775C>T (p.Ala592Val) c.*547C>T (n.*547C>T) c.1955C>T (p.Ala652Val) c.1946C>T (p.Ala649Val) c.1937C>T (p.Ala646Val) c.1847C>T (p.Ala616Val) n.2408C>T | dbSNP COSMIC COSMIC |
| 1 | g.156879272C>A | CA421271843 | NTRK1 | c.1776C>A (p.Ala592=) c.*548C>A (n.*548C>A) c.1956C>A (p.Ala652=) c.1947C>A (p.Ala649=) c.1938C>A (p.Ala646=) c.1848C>A (p.Ala616=) n.2409C>A | gnomAD v4 |
| 1 | g.156879272C= | CA1200787268 | NTRK1 | c.1776C= (p.Ala592=) c.*548C= (n.*548C=) c.1956C= (p.Ala652=) c.1947C= (p.Ala649=) c.1938C= (p.Ala646=) c.1848C= (p.Ala616=) n.2409C= | |
| 1 | g.156879272C>G | CA421271844 | NTRK1 | c.1776C>G (p.Ala592=) c.*548C>G (n.*548C>G) c.1956C>G (p.Ala652=) c.1947C>G (p.Ala649=) c.1938C>G (p.Ala646=) c.1848C>G (p.Ala616=) n.2409C>G | |
| 1 | g.156879272C>T | CA421271845 | NTRK1 | c.1776C>T (p.Ala592=) c.*548C>T (n.*548C>T) c.1956C>T (p.Ala652=) c.1947C>T (p.Ala649=) c.1938C>T (p.Ala646=) c.1848C>T (p.Ala616=) n.2409C>T | dbSNP gnomAD v4 |
| 1 | g.156879273A>C | CA342939910 | NTRK1 | c.1777A>C (p.Thr593Pro) c.*549A>C (n.*549A>C) c.1957A>C (p.Thr653Pro) c.1948A>C (p.Thr650Pro) c.1939A>C (p.Thr647Pro) c.1849A>C (p.Thr617Pro) n.2410A>C | dbSNP |
| 1 | g.156879273A>G | CA342939909 | NTRK1 | c.1777A>G (p.Thr593Ala) c.*549A>G (n.*549A>G) c.1957A>G (p.Thr653Ala) c.1948A>G (p.Thr650Ala) c.1939A>G (p.Thr647Ala) c.1849A>G (p.Thr617Ala) n.2410A>G | dbSNP |
| 1 | g.156879273A>T | CA342939908 | NTRK1 | c.1777A>T (p.Thr593Ser) c.*549A>T (n.*549A>T) c.1957A>T (p.Thr653Ser) c.1948A>T (p.Thr650Ser) c.1939A>T (p.Thr647Ser) c.1849A>T (p.Thr617Ser) n.2410A>T | dbSNP |
| 1 | g.156879274C>A | CA342939912 | NTRK1 | c.1778C>A (p.Thr593Lys) c.*550C>A (n.*550C>A) c.1958C>A (p.Thr653Lys) c.1949C>A (p.Thr650Lys) c.1940C>A (p.Thr647Lys) c.1850C>A (p.Thr617Lys) n.2411C>A | dbSNP |
| 1 | g.156879274C= | CA1200787269 | NTRK1 | c.1778C= (p.Thr593=) c.*550C= (n.*550C=) c.1958C= (p.Thr653=) c.1949C= (p.Thr650=) c.1940C= (p.Thr647=) c.1850C= (p.Thr617=) n.2411C= | |
| 1 | g.156879274C>G | CA342939914 | NTRK1 | c.1778C>G (p.Thr593Arg) c.*550C>G (n.*550C>G) c.1958C>G (p.Thr653Arg) c.1949C>G (p.Thr650Arg) c.1940C>G (p.Thr647Arg) c.1850C>G (p.Thr617Arg) n.2411C>G | dbSNP |
| 1 | g.156879274C>T | CA342939915 | NTRK1 | c.1778C>T (p.Thr593Ile) c.*550C>T (n.*550C>T) c.1958C>T (p.Thr653Ile) c.1949C>T (p.Thr650Ile) c.1940C>T (p.Thr647Ile) c.1850C>T (p.Thr617Ile) n.2411C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.156879275A>C | CA421271846 | NTRK1 | c.1779A>C (p.Thr593=) c.*551A>C (n.*551A>C) c.1959A>C (p.Thr653=) c.1950A>C (p.Thr650=) c.1941A>C (p.Thr647=) c.1851A>C (p.Thr617=) n.2412A>C | |
| 1 | g.156879275A>G | CA421271847 | NTRK1 | c.1779A>G (p.Thr593=) c.*551A>G (n.*551A>G) c.1959A>G (p.Thr653=) c.1950A>G (p.Thr650=) c.1941A>G (p.Thr647=) c.1851A>G (p.Thr617=) n.2412A>G | ClinVar dbSNP |
| 1 | g.156879275A>T | CA421271848 | NTRK1 | c.1779A>T (p.Thr593=) c.*551A>T (n.*551A>T) c.1959A>T (p.Thr653=) c.1950A>T (p.Thr650=) c.1941A>T (p.Thr647=) c.1851A>T (p.Thr617=) n.2412A>T | dbSNP |
| 1 | g.156879276C>A | CA342939917 | NTRK1 | c.1780C>A (p.Arg594Ser) c.*552C>A (n.*552C>A) c.1960C>A (p.Arg654Ser) c.1951C>A (p.Arg651Ser) c.1942C>A (p.Arg648Ser) c.1852C>A (p.Arg618Ser) n.2413C>A | dbSNP |
| 1 | g.156879276C= | CA1200787270 | NTRK1 | c.1780C= (p.Arg594=) c.*552C= (n.*552C=) c.1960C= (p.Arg654=) c.1951C= (p.Arg651=) c.1942C= (p.Arg648=) c.1852C= (p.Arg618=) n.2413C= | |
| 1 | g.156879276C>G | CA342939919 | NTRK1 | c.1780C>G (p.Arg594Gly) c.*552C>G (n.*552C>G) c.1960C>G (p.Arg654Gly) c.1951C>G (p.Arg651Gly) c.1942C>G (p.Arg648Gly) c.1852C>G (p.Arg618Gly) n.2413C>G | dbSNP |
| 1 | g.156879276C>T | CA1169521 | NTRK1 | c.1780C>T (p.Arg594Cys) c.*552C>T (n.*552C>T) c.1960C>T (p.Arg654Cys) c.1951C>T (p.Arg651Cys) c.1942C>T (p.Arg648Cys) c.1852C>T (p.Arg618Cys) n.2413C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |