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 |
|---|---|---|---|---|---|
| 11 | g.94435830A>C | CA382374005 | MRE11 | c.1994+2T>G (n.1994+2T>G) c.1910+2T>G (n.1910+2T>G) c.1991+2T>G (n.1991+2T>G) c.2003+2T>G (n.2003+2T>G) c.1526+2T>G (n.1526+2T>G) n.2290+2T>G | gnomAD v4 |
| 11 | g.94435830A>G | CA382374007 | MRE11 | c.1994+2T>C (n.1994+2T>C) c.1910+2T>C (n.1910+2T>C) c.1991+2T>C (n.1991+2T>C) c.2003+2T>C (n.2003+2T>C) c.1526+2T>C (n.1526+2T>C) n.2290+2T>C | dbSNP |
| 11 | g.94435830A>T | CA382374008 | MRE11 | c.1994+2T>A (n.1994+2T>A) c.1910+2T>A (n.1910+2T>A) c.1991+2T>A (n.1991+2T>A) c.2003+2T>A (n.2003+2T>A) c.1526+2T>A (n.1526+2T>A) n.2290+2T>A | ClinVar |
| 11 | g.94435831C>A | CA382374011 | MRE11 | c.1994+1G>T (n.1994+1G>T) c.1910+1G>T (n.1910+1G>T) c.1991+1G>T (n.1991+1G>T) c.2003+1G>T (n.2003+1G>T) c.1526+1G>T (n.1526+1G>T) n.2290+1G>T | |
| 11 | g.94435831C>G | CA382374010 | MRE11 | c.1994+1G>C (n.1994+1G>C) c.1910+1G>C (n.1910+1G>C) c.1991+1G>C (n.1991+1G>C) c.2003+1G>C (n.2003+1G>C) c.1526+1G>C (n.1526+1G>C) n.2290+1G>C | ClinVar |
| 11 | g.94435831C>T | CA382374009 | MRE11 | c.1994+1G>A (n.1994+1G>A) c.1910+1G>A (n.1910+1G>A) c.1991+1G>A (n.1991+1G>A) c.2003+1G>A (n.2003+1G>A) c.1526+1G>A (n.1526+1G>A) n.2290+1G>A | ClinVar gnomAD v4 |
| 11 | g.94435832C>A | CA382374012 | MRE11 | c.1994G>T (p.Arg665Met) c.1910G>T (p.Arg637Met) c.1991G>T (p.Arg664Met) c.2003G>T (p.Arg668Met) c.1526G>T (p.Arg509Met) n.2290G>T | |
| 11 | g.94435832C>G | CA382374014 | MRE11 | c.1994G>C (p.Arg665Thr) c.1910G>C (p.Arg637Thr) c.1991G>C (p.Arg664Thr) c.2003G>C (p.Arg668Thr) c.1526G>C (p.Arg509Thr) n.2290G>C | |
| 11 | g.94435832C>T | CA382374013 | MRE11 | c.1994G>A (p.Arg665Lys) c.1910G>A (p.Arg637Lys) c.1991G>A (p.Arg664Lys) c.2003G>A (p.Arg668Lys) c.1526G>A (p.Arg509Lys) n.2290G>A | |
| 11 | g.94435833T>A | CA382374015 | MRE11 | c.1993A>T (p.Arg665Trp) c.1909A>T (p.Arg637Trp) c.1990A>T (p.Arg664Trp) c.2002A>T (p.Arg668Trp) c.1525A>T (p.Arg509Trp) n.2289A>T | |
| 11 | g.94435833T>C | CA382374016 | MRE11 | c.1993A>G (p.Arg665Gly) c.1909A>G (p.Arg637Gly) c.1990A>G (p.Arg664Gly) c.2002A>G (p.Arg668Gly) c.1525A>G (p.Arg509Gly) n.2289A>G | |
| 11 | g.94435833T>G | CA476287086 | MRE11 | c.1993A>C (p.Arg665=) c.1909A>C (p.Arg637=) c.1990A>C (p.Arg664=) c.2002A>C (p.Arg668=) c.1525A>C (p.Arg509=) n.2289A>C | |
| 11 | g.94435834T>A | CA382374017 | MRE11 | c.1992A>T (p.Gln664His) c.1908A>T (p.Gln636His) c.1989A>T (p.Gln663His) c.2001A>T (p.Gln667His) c.1524A>T (p.Gln508His) n.2288A>T | |
| 11 | g.94435834T>C | CA476287088 | MRE11 | c.1992A>G (p.Gln664=) c.1908A>G (p.Gln636=) c.1989A>G (p.Gln663=) c.2001A>G (p.Gln667=) c.1524A>G (p.Gln508=) n.2288A>G | |
| 11 | g.94435834T>G | CA382374018 | MRE11 | c.1992A>C (p.Gln664His) c.1908A>C (p.Gln636His) c.1989A>C (p.Gln663His) c.2001A>C (p.Gln667His) c.1524A>C (p.Gln508His) n.2288A>C | |
| 11 | g.94435835T>A | CA382374019 | MRE11 | c.1991A>T (p.Gln664Leu) c.1907A>T (p.Gln636Leu) c.1988A>T (p.Gln663Leu) c.2000A>T (p.Gln667Leu) c.1523A>T (p.Gln508Leu) n.2287A>T | |
| 11 | g.94435835T>C | CA382374020 | MRE11 | c.1991A>G (p.Gln664Arg) c.1907A>G (p.Gln636Arg) c.1988A>G (p.Gln663Arg) c.2000A>G (p.Gln667Arg) c.1523A>G (p.Gln508Arg) n.2287A>G | gnomAD v4 |
| 11 | g.94435835T>G | CA382374021 | MRE11 | c.1991A>C (p.Gln664Pro) c.1907A>C (p.Gln636Pro) c.1988A>C (p.Gln663Pro) c.2000A>C (p.Gln667Pro) c.1523A>C (p.Gln508Pro) n.2287A>C | gnomAD v4 |
| 11 | g.94435836G>A | CA382374022 | MRE11 | c.1990C>T (p.Gln664Ter) c.1906C>T (p.Gln636Ter) c.1987C>T (p.Gln663Ter) c.1999C>T (p.Gln667Ter) c.1522C>T (p.Gln508Ter) n.2286C>T | |
| 11 | g.94435836G>C | CA382374023 | MRE11 | c.1990C>G (p.Gln664Glu) c.1906C>G (p.Gln636Glu) c.1987C>G (p.Gln663Glu) c.1999C>G (p.Gln667Glu) c.1522C>G (p.Gln508Glu) n.2286C>G | ClinVar dbSNP |
| 11 | g.94435836G= | CA1992448295 | MRE11 | c.1990C= (p.Gln664=) c.1906C= (p.Gln636=) c.1987C= (p.Gln663=) c.1999C= (p.Gln667=) c.1522C= (p.Gln508=) n.2286C= | |
| 11 | g.94435836G>T | CA382374024 | MRE11 | c.1990C>A (p.Gln664Lys) c.1906C>A (p.Gln636Lys) c.1987C>A (p.Gln663Lys) c.1999C>A (p.Gln667Lys) c.1522C>A (p.Gln508Lys) n.2286C>A | |
| 11 | g.94435837A= | CA1992448316 | MRE11 | c.1989T= (p.Asp663=) c.1905T= (p.Asp635=) c.1986T= (p.Asp662=) c.1998T= (p.Asp666=) c.1521T= (p.Asp507=) n.2285T= | |
| 11 | g.94435837A>C | CA382374026 | MRE11 | c.1989T>G (p.Asp663Glu) c.1905T>G (p.Asp635Glu) c.1986T>G (p.Asp662Glu) c.1998T>G (p.Asp666Glu) c.1521T>G (p.Asp507Glu) n.2285T>G | ClinVar dbSNP |
| 11 | g.94435837A>G | CA476287091 | MRE11 | c.1989T>C (p.Asp663=) c.1905T>C (p.Asp635=) c.1986T>C (p.Asp662=) c.1998T>C (p.Asp666=) c.1521T>C (p.Asp507=) n.2285T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.94435837A>T | CA382374025 | MRE11 | c.1989T>A (p.Asp663Glu) c.1905T>A (p.Asp635Glu) c.1986T>A (p.Asp662Glu) c.1998T>A (p.Asp666Glu) c.1521T>A (p.Asp507Glu) n.2285T>A | gnomAD v4 |
| 11 | g.94435838T>A | CA382374027 | MRE11 | c.1988A>T (p.Asp663Val) c.1904A>T (p.Asp635Val) c.1985A>T (p.Asp662Val) c.1997A>T (p.Asp666Val) c.1520A>T (p.Asp507Val) n.2284A>T | |
| 11 | g.94435838T>C | CA382374028 | MRE11 | c.1988A>G (p.Asp663Gly) c.1904A>G (p.Asp635Gly) c.1985A>G (p.Asp662Gly) c.1997A>G (p.Asp666Gly) c.1520A>G (p.Asp507Gly) n.2284A>G | ClinVar dbSNP |
| 11 | g.94435838T>G | CA382374029 | MRE11 | c.1988A>C (p.Asp663Ala) c.1904A>C (p.Asp635Ala) c.1985A>C (p.Asp662Ala) c.1997A>C (p.Asp666Ala) c.1520A>C (p.Asp507Ala) n.2284A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94435838T= | CA1992448324 | MRE11 | c.1988A= (p.Asp663=) c.1904A= (p.Asp635=) c.1985A= (p.Asp662=) c.1997A= (p.Asp666=) c.1520A= (p.Asp507=) n.2284A= | |
| 11 | g.94435839C>A | CA382374030 | MRE11 | c.1987G>T (p.Asp663Tyr) c.1903G>T (p.Asp635Tyr) c.1984G>T (p.Asp662Tyr) c.1996G>T (p.Asp666Tyr) c.1519G>T (p.Asp507Tyr) n.2283G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.94435839C= | CA1992448334 | MRE11 | c.1987G= (p.Asp663=) c.1903G= (p.Asp635=) c.1984G= (p.Asp662=) c.1996G= (p.Asp666=) c.1519G= (p.Asp507=) n.2283G= | |
| 11 | g.94435839C>G | CA382374031 | MRE11 | c.1987G>C (p.Asp663His) c.1903G>C (p.Asp635His) c.1984G>C (p.Asp662His) c.1996G>C (p.Asp666His) c.1519G>C (p.Asp507His) n.2283G>C | |
| 11 | g.94435839C>T | CA382374032 | MRE11 | c.1987G>A (p.Asp663Asn) c.1903G>A (p.Asp635Asn) c.1984G>A (p.Asp662Asn) c.1996G>A (p.Asp666Asn) c.1519G>A (p.Asp507Asn) n.2283G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.94435840T>A | CA476287094 | MRE11 | c.1986A>T (p.Thr662=) c.1902A>T (p.Thr634=) c.1983A>T (p.Thr661=) c.1995A>T (p.Thr665=) c.1518A>T (p.Thr506=) n.2282A>T | |
| 11 | g.94435840T>C | CA476287095 | MRE11 | c.1986A>G (p.Thr662=) c.1902A>G (p.Thr634=) c.1983A>G (p.Thr661=) c.1995A>G (p.Thr665=) c.1518A>G (p.Thr506=) n.2282A>G | |
| 11 | g.94435840T>G | CA476287096 | MRE11 | c.1986A>C (p.Thr662=) c.1902A>C (p.Thr634=) c.1983A>C (p.Thr661=) c.1995A>C (p.Thr665=) c.1518A>C (p.Thr506=) n.2282A>C | |
| 11 | g.94435841G>A | CA382374035 | MRE11 | c.1985C>T (p.Thr662Ile) c.1901C>T (p.Thr634Ile) c.1982C>T (p.Thr661Ile) c.1994C>T (p.Thr665Ile) c.1517C>T (p.Thr506Ile) n.2281C>T | gnomAD v4 |
| 11 | g.94435841G>C | CA382374033 | MRE11 | c.1985C>G (p.Thr662Arg) c.1901C>G (p.Thr634Arg) c.1982C>G (p.Thr661Arg) c.1994C>G (p.Thr665Arg) c.1517C>G (p.Thr506Arg) n.2281C>G | |
| 11 | g.94435841G>T | CA382374034 | MRE11 | c.1985C>A (p.Thr662Lys) c.1901C>A (p.Thr634Lys) c.1982C>A (p.Thr661Lys) c.1994C>A (p.Thr665Lys) c.1517C>A (p.Thr506Lys) n.2281C>A | |
| 11 | g.94435842T>A | CA382374036 | MRE11 | c.1984A>T (p.Thr662Ser) c.1900A>T (p.Thr634Ser) c.1981A>T (p.Thr661Ser) c.1993A>T (p.Thr665Ser) c.1516A>T (p.Thr506Ser) n.2280A>T | |
| 11 | g.94435842T>C | CA382374037 | MRE11 | c.1984A>G (p.Thr662Ala) c.1900A>G (p.Thr634Ala) c.1981A>G (p.Thr661Ala) c.1993A>G (p.Thr665Ala) c.1516A>G (p.Thr506Ala) n.2280A>G | ClinVar dbSNP |
| 11 | g.94435842T>G | CA382374038 | MRE11 | c.1984A>C (p.Thr662Pro) c.1900A>C (p.Thr634Pro) c.1981A>C (p.Thr661Pro) c.1993A>C (p.Thr665Pro) c.1516A>C (p.Thr506Pro) n.2280A>C | |
| 11 | g.94435842T= | CA1992426068 | MRE11 | c.1984A= (p.Thr662=) c.1900A= (p.Thr634=) c.1981A= (p.Thr661=) c.1993A= (p.Thr665=) c.1516A= (p.Thr506=) n.2280A= | |
| 11 | g.94435843C>A | CA382374039 | MRE11 | c.1983G>T (p.Lys661Asn) c.1899G>T (p.Lys633Asn) c.1980G>T (p.Lys660Asn) c.1992G>T (p.Lys664Asn) c.1515G>T (p.Lys505Asn) n.2279G>T | |
| 11 | g.94435843C>G | CA382374040 | MRE11 | c.1983G>C (p.Lys661Asn) c.1899G>C (p.Lys633Asn) c.1980G>C (p.Lys660Asn) c.1992G>C (p.Lys664Asn) c.1515G>C (p.Lys505Asn) n.2279G>C | |
| 11 | g.94435843C>T | CA476287099 | MRE11 | c.1983G>A (p.Lys661=) c.1899G>A (p.Lys633=) c.1980G>A (p.Lys660=) c.1992G>A (p.Lys664=) c.1515G>A (p.Lys505=) n.2279G>A | ClinVar |
| 11 | g.94435844T>A | CA382374041 | MRE11 | c.1982A>T (p.Lys661Met) c.1898A>T (p.Lys633Met) c.1979A>T (p.Lys660Met) c.1991A>T (p.Lys664Met) c.1514A>T (p.Lys505Met) n.2278A>T | |
| 11 | g.94435844T>C | CA382374042 | MRE11 | c.1982A>G (p.Lys661Arg) c.1898A>G (p.Lys633Arg) c.1979A>G (p.Lys660Arg) c.1991A>G (p.Lys664Arg) c.1514A>G (p.Lys505Arg) n.2278A>G | |
| 11 | g.94435844T>G | CA382374043 | MRE11 | c.1982A>C (p.Lys661Thr) c.1898A>C (p.Lys633Thr) c.1979A>C (p.Lys660Thr) c.1991A>C (p.Lys664Thr) c.1514A>C (p.Lys505Thr) n.2278A>C |