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 |
|---|---|---|---|---|---|
| 15 | g.74180120_74180121delinsCG | CA2187549705 | STRA6 | c.1963_1964delinsCG (p.Arg655=) c.1939_1940delinsCG (p.Arg647=) c.1936_1937delinsCG (p.Arg646=) c.2074_2075delinsCG (p.Arg692=) n.1672_1673delinsCG c.2080_2081delinsCG (p.Arg694=) c.2008_2009delinsCG (p.Arg670=) n.2235_2236delinsCG c.1774_1775delinsCG (p.Arg592=) c.2011_2012delinsCG (p.Arg671=) | |
| 15 | g.74180121G>A | CA114787 | STRA6 | c.1963C>T (p.Arg655Cys) c.1939C>T (p.Arg647Cys) c.1936C>T (p.Arg646Cys) c.2074C>T (p.Arg692Cys) n.1672C>T c.2080C>T (p.Arg694Cys) c.2008C>T (p.Arg670Cys) n.2235C>T c.1774C>T (p.Arg592Cys) c.2011C>T (p.Arg671Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180121G>C | CA393128217 | STRA6 | c.1963C>G (p.Arg655Gly) c.1939C>G (p.Arg647Gly) c.1936C>G (p.Arg646Gly) c.2074C>G (p.Arg692Gly) n.1672C>G c.2080C>G (p.Arg694Gly) c.2008C>G (p.Arg670Gly) n.2235C>G c.1774C>G (p.Arg592Gly) c.2011C>G (p.Arg671Gly) | |
| 15 | g.74180121G= | CA2187549707 | STRA6 | c.1963C= (p.Arg655=) c.1939C= (p.Arg647=) c.1936C= (p.Arg646=) c.2074C= (p.Arg692=) n.1672C= c.2080C= (p.Arg694=) c.2008C= (p.Arg670=) n.2235C= c.1774C= (p.Arg592=) c.2011C= (p.Arg671=) | |
| 15 | g.74180121G>T | CA393128218 | STRA6 | c.1963C>A (p.Arg655Ser) c.1939C>A (p.Arg647Ser) c.1936C>A (p.Arg646Ser) c.2074C>A (p.Arg692Ser) n.1672C>A c.2080C>A (p.Arg694Ser) c.2008C>A (p.Arg670Ser) n.2235C>A c.1774C>A (p.Arg592Ser) c.2011C>A (p.Arg671Ser) | COSMIC COSMIC |
| 15 | g.74180122del | CA2187549706 | STRA6 | c.1963del (p.Arg655AlafsTer?) c.1939del (p.Arg647AlafsTer?) c.1936del (p.Arg646AlafsTer?) c.2074del (p.Arg692AlafsTer?) n.1672del c.2080del (p.Arg694AlafsTer?) c.2008del (p.Arg670AlafsTer?) n.2235del c.1774del (p.Arg592AlafsTer?) c.2011del (p.Arg671AlafsTer?) | dbSNP gnomAD v4 |
| 15 | g.74180122G>A | CA491170292 | STRA6 | c.1962C>T (p.Phe654=) c.1938C>T (p.Phe646=) c.1935C>T (p.Phe645=) c.2073C>T (p.Phe691=) n.1671C>T c.2079C>T (p.Phe693=) c.2007C>T (p.Phe669=) n.2234C>T c.1773C>T (p.Phe591=) c.2010C>T (p.Phe670=) | gnomAD v4 |
| 15 | g.74180122G>C | CA393128219 | STRA6 | c.1962C>G (p.Phe654Leu) c.1938C>G (p.Phe646Leu) c.1935C>G (p.Phe645Leu) c.2073C>G (p.Phe691Leu) n.1671C>G c.2079C>G (p.Phe693Leu) c.2007C>G (p.Phe669Leu) n.2234C>G c.1773C>G (p.Phe591Leu) c.2010C>G (p.Phe670Leu) | |
| 15 | g.74180122G>T | CA393128220 | STRA6 | c.1962C>A (p.Phe654Leu) c.1938C>A (p.Phe646Leu) c.1935C>A (p.Phe645Leu) c.2073C>A (p.Phe691Leu) n.1671C>A c.2079C>A (p.Phe693Leu) c.2007C>A (p.Phe669Leu) n.2234C>A c.1773C>A (p.Phe591Leu) c.2010C>A (p.Phe670Leu) | |
| 15 | g.74180123A>C | CA393128221 | STRA6 | c.1961T>G (p.Phe654Cys) c.1937T>G (p.Phe646Cys) c.1934T>G (p.Phe645Cys) c.2072T>G (p.Phe691Cys) n.1670T>G c.2078T>G (p.Phe693Cys) c.2006T>G (p.Phe669Cys) n.2233T>G c.1772T>G (p.Phe591Cys) c.2009T>G (p.Phe670Cys) | |
| 15 | g.74180123A>G | CA393128222 | STRA6 | c.1961T>C (p.Phe654Ser) c.1937T>C (p.Phe646Ser) c.1934T>C (p.Phe645Ser) c.2072T>C (p.Phe691Ser) n.1670T>C c.2078T>C (p.Phe693Ser) c.2006T>C (p.Phe669Ser) n.2233T>C c.1772T>C (p.Phe591Ser) c.2009T>C (p.Phe670Ser) | |
| 15 | g.74180123A>T | CA393128223 | STRA6 | c.1961T>A (p.Phe654Tyr) c.1937T>A (p.Phe646Tyr) c.1934T>A (p.Phe645Tyr) c.2072T>A (p.Phe691Tyr) n.1670T>A c.2078T>A (p.Phe693Tyr) c.2006T>A (p.Phe669Tyr) n.2233T>A c.1772T>A (p.Phe591Tyr) c.2009T>A (p.Phe670Tyr) | |
| 15 | g.74180124A>C | CA393128224 | STRA6 | c.1960T>G (p.Phe654Val) c.1936T>G (p.Phe646Val) c.1933T>G (p.Phe645Val) c.2071T>G (p.Phe691Val) n.1669T>G c.2077T>G (p.Phe693Val) c.2005T>G (p.Phe669Val) n.2232T>G c.1771T>G (p.Phe591Val) c.2008T>G (p.Phe670Val) | |
| 15 | g.74180124A>G | CA393128225 | STRA6 | c.1960T>C (p.Phe654Leu) c.1936T>C (p.Phe646Leu) c.1933T>C (p.Phe645Leu) c.2071T>C (p.Phe691Leu) n.1669T>C c.2077T>C (p.Phe693Leu) c.2005T>C (p.Phe669Leu) n.2232T>C c.1771T>C (p.Phe591Leu) c.2008T>C (p.Phe670Leu) | |
| 15 | g.74180124A>T | CA393128226 | STRA6 | c.1960T>A (p.Phe654Ile) c.1936T>A (p.Phe646Ile) c.1933T>A (p.Phe645Ile) c.2071T>A (p.Phe691Ile) n.1669T>A c.2077T>A (p.Phe693Ile) c.2005T>A (p.Phe669Ile) n.2232T>A c.1771T>A (p.Phe591Ile) c.2008T>A (p.Phe670Ile) | |
| 15 | g.74180125G>A | CA491170295 | STRA6 | c.1959C>T (p.Val653=) c.1935C>T (p.Val645=) c.1932C>T (p.Val644=) c.2070C>T (p.Val690=) n.1668C>T c.2076C>T (p.Val692=) c.2004C>T (p.Val668=) n.2231C>T c.1770C>T (p.Val590=) c.2007C>T (p.Val669=) | |
| 15 | g.74180125G>C | CA491170294 | STRA6 | c.1959C>G (p.Val653=) c.1935C>G (p.Val645=) c.1932C>G (p.Val644=) c.2070C>G (p.Val690=) n.1668C>G c.2076C>G (p.Val692=) c.2004C>G (p.Val668=) n.2231C>G c.1770C>G (p.Val590=) c.2007C>G (p.Val669=) | |
| 15 | g.74180125G>T | CA491170293 | STRA6 | c.1959C>A (p.Val653=) c.1935C>A (p.Val645=) c.1932C>A (p.Val644=) c.2070C>A (p.Val690=) n.1668C>A c.2076C>A (p.Val692=) c.2004C>A (p.Val668=) n.2231C>A c.1770C>A (p.Val590=) c.2007C>A (p.Val669=) | |
| 15 | g.74180126A>C | CA393128229 | STRA6 | c.1958T>G (p.Val653Gly) c.1934T>G (p.Val645Gly) c.1931T>G (p.Val644Gly) c.2069T>G (p.Val690Gly) n.1667T>G c.2075T>G (p.Val692Gly) c.2003T>G (p.Val668Gly) n.2230T>G c.1769T>G (p.Val590Gly) c.2006T>G (p.Val669Gly) | |
| 15 | g.74180126A>G | CA393128228 | STRA6 | c.1958T>C (p.Val653Ala) c.1934T>C (p.Val645Ala) c.1931T>C (p.Val644Ala) c.2069T>C (p.Val690Ala) n.1667T>C c.2075T>C (p.Val692Ala) c.2003T>C (p.Val668Ala) n.2230T>C c.1769T>C (p.Val590Ala) c.2006T>C (p.Val669Ala) | |
| 15 | g.74180126A>T | CA393128227 | STRA6 | c.1958T>A (p.Val653Asp) c.1934T>A (p.Val645Asp) c.1931T>A (p.Val644Asp) c.2069T>A (p.Val690Asp) n.1667T>A c.2075T>A (p.Val692Asp) c.2003T>A (p.Val668Asp) n.2230T>A c.1769T>A (p.Val590Asp) c.2006T>A (p.Val669Asp) | gnomAD v4 |
| 15 | g.74180127C>A | CA393128230 | STRA6 | c.1957G>T (p.Val653Phe) c.1933G>T (p.Val645Phe) c.1930G>T (p.Val644Phe) c.2068G>T (p.Val690Phe) n.1666G>T c.2074G>T (p.Val692Phe) c.2002G>T (p.Val668Phe) n.2229G>T c.1768G>T (p.Val590Phe) c.2005G>T (p.Val669Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180127C= | CA2187549708 | STRA6 | c.1957G= (p.Val653=) c.1933G= (p.Val645=) c.1930G= (p.Val644=) c.2068G= (p.Val690=) n.1666G= c.2074G= (p.Val692=) c.2002G= (p.Val668=) n.2229G= c.1768G= (p.Val590=) c.2005G= (p.Val669=) | |
| 15 | g.74180127C>G | CA393128231 | STRA6 | c.1957G>C (p.Val653Leu) c.1933G>C (p.Val645Leu) c.1930G>C (p.Val644Leu) c.2068G>C (p.Val690Leu) n.1666G>C c.2074G>C (p.Val692Leu) c.2002G>C (p.Val668Leu) n.2229G>C c.1768G>C (p.Val590Leu) c.2005G>C (p.Val669Leu) | |
| 15 | g.74180127C>T | CA7654380 | STRA6 | c.1957G>A (p.Val653Ile) c.1933G>A (p.Val645Ile) c.1930G>A (p.Val644Ile) c.2068G>A (p.Val690Ile) n.1666G>A c.2074G>A (p.Val692Ile) c.2002G>A (p.Val668Ile) n.2229G>A c.1768G>A (p.Val590Ile) c.2005G>A (p.Val669Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180128C>A | CA393128232 | STRA6 | c.1956G>T (p.Gln652His) c.1932G>T (p.Gln644His) c.1929G>T (p.Gln643His) c.2067G>T (p.Gln689His) n.1665G>T c.2073G>T (p.Gln691His) c.2001G>T (p.Gln667His) n.2228G>T c.1767G>T (p.Gln589His) c.2004G>T (p.Gln668His) | |
| 15 | g.74180128C>G | CA393128233 | STRA6 | c.1956G>C (p.Gln652His) c.1932G>C (p.Gln644His) c.1929G>C (p.Gln643His) c.2067G>C (p.Gln689His) n.1665G>C c.2073G>C (p.Gln691His) c.2001G>C (p.Gln667His) n.2228G>C c.1767G>C (p.Gln589His) c.2004G>C (p.Gln668His) | |
| 15 | g.74180128C>T | CA491170296 | STRA6 | c.1956G>A (p.Gln652=) c.1932G>A (p.Gln644=) c.1929G>A (p.Gln643=) c.2067G>A (p.Gln689=) n.1665G>A c.2073G>A (p.Gln691=) c.2001G>A (p.Gln667=) n.2228G>A c.1767G>A (p.Gln589=) c.2004G>A (p.Gln668=) | |
| 15 | g.74180129T>A | CA393128234 | STRA6 | c.1955A>T (p.Gln652Leu) c.1931A>T (p.Gln644Leu) c.1928A>T (p.Gln643Leu) c.2066A>T (p.Gln689Leu) n.1664A>T c.2072A>T (p.Gln691Leu) c.2000A>T (p.Gln667Leu) n.2227A>T c.1766A>T (p.Gln589Leu) c.2003A>T (p.Gln668Leu) | gnomAD v4 |
| 15 | g.74180129T>C | CA393128235 | STRA6 | c.1955A>G (p.Gln652Arg) c.1931A>G (p.Gln644Arg) c.1928A>G (p.Gln643Arg) c.2066A>G (p.Gln689Arg) n.1664A>G c.2072A>G (p.Gln691Arg) c.2000A>G (p.Gln667Arg) n.2227A>G c.1766A>G (p.Gln589Arg) c.2003A>G (p.Gln668Arg) | |
| 15 | g.74180129T>G | CA393128236 | STRA6 | c.1955A>C (p.Gln652Pro) c.1931A>C (p.Gln644Pro) c.1928A>C (p.Gln643Pro) c.2066A>C (p.Gln689Pro) n.1664A>C c.2072A>C (p.Gln691Pro) c.2000A>C (p.Gln667Pro) n.2227A>C c.1766A>C (p.Gln589Pro) c.2003A>C (p.Gln668Pro) | |
| 15 | g.74180130G>A | CA393128237 | STRA6 | c.1954C>T (p.Gln652Ter) c.1930C>T (p.Gln644Ter) c.1927C>T (p.Gln643Ter) c.2065C>T (p.Gln689Ter) n.1663C>T c.2071C>T (p.Gln691Ter) c.1999C>T (p.Gln667Ter) n.2226C>T c.1765C>T (p.Gln589Ter) c.2002C>T (p.Gln668Ter) | |
| 15 | g.74180130G>C | CA393128238 | STRA6 | c.1954C>G (p.Gln652Glu) c.1930C>G (p.Gln644Glu) c.1927C>G (p.Gln643Glu) c.2065C>G (p.Gln689Glu) n.1663C>G c.2071C>G (p.Gln691Glu) c.1999C>G (p.Gln667Glu) n.2226C>G c.1765C>G (p.Gln589Glu) c.2002C>G (p.Gln668Glu) | |
| 15 | g.74180130G>T | CA393128239 | STRA6 | c.1954C>A (p.Gln652Lys) c.1930C>A (p.Gln644Lys) c.1927C>A (p.Gln643Lys) c.2065C>A (p.Gln689Lys) n.1663C>A c.2071C>A (p.Gln691Lys) c.1999C>A (p.Gln667Lys) n.2226C>A c.1765C>A (p.Gln589Lys) c.2002C>A (p.Gln668Lys) | |
| 15 | g.74180131C>A | CA491170299 | STRA6 | c.1953G>T (p.Leu651=) c.1929G>T (p.Leu643=) c.1926G>T (p.Leu642=) c.2064G>T (p.Leu688=) n.1662G>T c.2070G>T (p.Leu690=) c.1998G>T (p.Leu666=) n.2225G>T c.1764G>T (p.Leu588=) c.2001G>T (p.Leu667=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180131C= | CA2187549709 | STRA6 | c.1953G= (p.Leu651=) c.1929G= (p.Leu643=) c.1926G= (p.Leu642=) c.2064G= (p.Leu688=) n.1662G= c.2070G= (p.Leu690=) c.1998G= (p.Leu666=) n.2225G= c.1764G= (p.Leu588=) c.2001G= (p.Leu667=) | |
| 15 | g.74180131C>G | CA491170297 | STRA6 | c.1953G>C (p.Leu651=) c.1929G>C (p.Leu643=) c.1926G>C (p.Leu642=) c.2064G>C (p.Leu688=) n.1662G>C c.2070G>C (p.Leu690=) c.1998G>C (p.Leu666=) n.2225G>C c.1764G>C (p.Leu588=) c.2001G>C (p.Leu667=) | |
| 15 | g.74180131C>T | CA491170298 | STRA6 | c.1953G>A (p.Leu651=) c.1929G>A (p.Leu643=) c.1926G>A (p.Leu642=) c.2064G>A (p.Leu688=) n.1662G>A c.2070G>A (p.Leu690=) c.1998G>A (p.Leu666=) n.2225G>A c.1764G>A (p.Leu588=) c.2001G>A (p.Leu667=) | gnomAD v4 |
| 15 | g.74180132A>C | CA393128242 | STRA6 | c.1952T>G (p.Leu651Arg) c.1928T>G (p.Leu643Arg) c.1925T>G (p.Leu642Arg) c.2063T>G (p.Leu688Arg) n.1661T>G c.2069T>G (p.Leu690Arg) c.1997T>G (p.Leu666Arg) n.2224T>G c.1763T>G (p.Leu588Arg) c.2000T>G (p.Leu667Arg) | |
| 15 | g.74180132A>G | CA393128241 | STRA6 | c.1952T>C (p.Leu651Pro) c.1928T>C (p.Leu643Pro) c.1925T>C (p.Leu642Pro) c.2063T>C (p.Leu688Pro) n.1661T>C c.2069T>C (p.Leu690Pro) c.1997T>C (p.Leu666Pro) n.2224T>C c.1763T>C (p.Leu588Pro) c.2000T>C (p.Leu667Pro) | |
| 15 | g.74180132A>T | CA393128240 | STRA6 | c.1952T>A (p.Leu651Gln) c.1928T>A (p.Leu643Gln) c.1925T>A (p.Leu642Gln) c.2063T>A (p.Leu688Gln) n.1661T>A c.2069T>A (p.Leu690Gln) c.1997T>A (p.Leu666Gln) n.2224T>A c.1763T>A (p.Leu588Gln) c.2000T>A (p.Leu667Gln) | |
| 15 | g.74180133G>A | CA491170300 | STRA6 | c.1951C>T (p.Leu651=) c.1927C>T (p.Leu643=) c.1924C>T (p.Leu642=) c.2062C>T (p.Leu688=) n.1660C>T c.2068C>T (p.Leu690=) c.1996C>T (p.Leu666=) n.2223C>T c.1762C>T (p.Leu588=) c.1999C>T (p.Leu667=) | |
| 15 | g.74180133G>C | CA393128243 | STRA6 | c.1951C>G (p.Leu651Val) c.1927C>G (p.Leu643Val) c.1924C>G (p.Leu642Val) c.2062C>G (p.Leu688Val) n.1660C>G c.2068C>G (p.Leu690Val) c.1996C>G (p.Leu666Val) n.2223C>G c.1762C>G (p.Leu588Val) c.1999C>G (p.Leu667Val) | |
| 15 | g.74180133G>T | CA393128244 | STRA6 | c.1951C>A (p.Leu651Met) c.1927C>A (p.Leu643Met) c.1924C>A (p.Leu642Met) c.2062C>A (p.Leu688Met) n.1660C>A c.2068C>A (p.Leu690Met) c.1996C>A (p.Leu666Met) n.2223C>A c.1762C>A (p.Leu588Met) c.1999C>A (p.Leu667Met) | |
| 15 | g.74180134G>A | CA7654381 | STRA6 | c.1950C>T (p.Thr650=) c.1926C>T (p.Thr642=) c.1923C>T (p.Thr641=) c.2061C>T (p.Thr687=) n.1659C>T c.2067C>T (p.Thr689=) c.1995C>T (p.Thr665=) n.2222C>T c.1761C>T (p.Thr587=) c.1998C>T (p.Thr666=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180134G>C | CA491170301 | STRA6 | c.1950C>G (p.Thr650=) c.1926C>G (p.Thr642=) c.1923C>G (p.Thr641=) c.2061C>G (p.Thr687=) n.1659C>G c.2067C>G (p.Thr689=) c.1995C>G (p.Thr665=) n.2222C>G c.1761C>G (p.Thr587=) c.1998C>G (p.Thr666=) | |
| 15 | g.74180134G= | CA2187549710 | STRA6 | c.1950C= (p.Thr650=) c.1926C= (p.Thr642=) c.1923C= (p.Thr641=) c.2061C= (p.Thr687=) n.1659C= c.2067C= (p.Thr689=) c.1995C= (p.Thr665=) n.2222C= c.1761C= (p.Thr587=) c.1998C= (p.Thr666=) | |
| 15 | g.74180134G>T | CA491170302 | STRA6 | c.1950C>A (p.Thr650=) c.1926C>A (p.Thr642=) c.1923C>A (p.Thr641=) c.2061C>A (p.Thr687=) n.1659C>A c.2067C>A (p.Thr689=) c.1995C>A (p.Thr665=) n.2222C>A c.1761C>A (p.Thr587=) c.1998C>A (p.Thr666=) | |
| 15 | g.74180135G>A | CA393128245 | STRA6 | c.1949C>T (p.Thr650Ile) c.1925C>T (p.Thr642Ile) c.1922C>T (p.Thr641Ile) c.2060C>T (p.Thr687Ile) n.1658C>T c.2066C>T (p.Thr689Ile) c.1994C>T (p.Thr665Ile) n.2221C>T c.1760C>T (p.Thr587Ile) c.1997C>T (p.Thr666Ile) | |
| 15 | g.74180135G>C | CA393128246 | STRA6 | c.1949C>G (p.Thr650Ser) c.1925C>G (p.Thr642Ser) c.1922C>G (p.Thr641Ser) c.2060C>G (p.Thr687Ser) n.1658C>G c.2066C>G (p.Thr689Ser) c.1994C>G (p.Thr665Ser) n.2221C>G c.1760C>G (p.Thr587Ser) c.1997C>G (p.Thr666Ser) |