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.66851794_66851796del | CA2614543382 | PC | c.1978_1980del (p.Phe660del) n.290-1729_290-1727del c.1883_1885del (p.Leu628del) c.*454_*456del (n.*454_*456del) n.591_593del c.457_459del (p.Phe153del) c.682_684del (p.Phe228del) c.613_615del (p.Phe205del) | gnomAD v4 |
| 11 | g.66851793A>C | CA381494259 | PC | c.1979T>G (p.Phe660Cys) n.290-1728T>G c.1884T>G (p.Leu628=) c.*455T>G (n.*455T>G) n.592T>G c.458T>G (p.Phe153Cys) c.683T>G (p.Phe228Cys) c.614T>G (p.Phe205Cys) | |
| 11 | g.66851793A>G | CA381494258 | PC | c.1979T>C (p.Phe660Ser) n.290-1728T>C c.1884T>C (p.Leu628=) c.*455T>C (n.*455T>C) n.592T>C c.458T>C (p.Phe153Ser) c.683T>C (p.Phe228Ser) c.614T>C (p.Phe205Ser) | |
| 11 | g.66851793A>T | CA381494257 | PC | c.1979T>A (p.Phe660Tyr) n.290-1728T>A c.1884T>A (p.Leu628=) c.*455T>A (n.*455T>A) n.592T>A c.458T>A (p.Phe153Tyr) c.683T>A (p.Phe228Tyr) c.614T>A (p.Phe205Tyr) | |
| 11 | g.66851794A>C | CA381494261 | PC | c.1978T>G (p.Phe660Val) n.290-1729T>G c.1883T>G (p.Leu628Arg) c.*454T>G (n.*454T>G) n.591T>G c.457T>G (p.Phe153Val) c.682T>G (p.Phe228Val) c.613T>G (p.Phe205Val) | |
| 11 | g.66851794A>G | CA381494263 | PC | c.1978T>C (p.Phe660Leu) n.290-1729T>C c.1883T>C (p.Leu628Pro) c.*454T>C (n.*454T>C) n.591T>C c.457T>C (p.Phe153Leu) c.682T>C (p.Phe228Leu) c.613T>C (p.Phe205Leu) | |
| 11 | g.66851794A>T | CA381494265 | PC | c.1978T>A (p.Phe660Ile) n.290-1729T>A c.1883T>A (p.Leu628His) c.*454T>A (n.*454T>A) n.591T>A c.457T>A (p.Phe153Ile) c.682T>A (p.Phe228Ile) c.613T>A (p.Phe205Ile) | |
| 11 | g.66851795G>A | CA475372732 | PC | c.1977C>T (p.Val659=) n.290-1730C>T c.1882C>T (p.Leu628Phe) c.*453C>T (n.*453C>T) n.590C>T c.456C>T (p.Val152=) c.681C>T (p.Val227=) c.612C>T (p.Val204=) | |
| 11 | g.66851795G>C | CA475372730 | PC | c.1977C>G (p.Val659=) n.290-1730C>G c.1882C>G (p.Leu628Val) c.*453C>G (n.*453C>G) n.590C>G c.456C>G (p.Val152=) c.681C>G (p.Val227=) c.612C>G (p.Val204=) | |
| 11 | g.66851795G>T | CA475372731 | PC | c.1977C>A (p.Val659=) n.290-1730C>A c.1882C>A (p.Leu628Ile) c.*453C>A (n.*453C>A) n.590C>A c.456C>A (p.Val152=) c.681C>A (p.Val227=) c.612C>A (p.Val204=) | |
| 11 | g.66851796A>C | CA381494266 | PC | c.1976T>G (p.Val659Gly) n.290-1731T>G c.1881T>G (p.Gly627=) c.*452T>G (n.*452T>G) n.589T>G c.455T>G (p.Val152Gly) c.680T>G (p.Val227Gly) c.611T>G (p.Val204Gly) | |
| 11 | g.66851796A>G | CA381494267 | PC | c.1976T>C (p.Val659Ala) n.290-1731T>C c.1881T>C (p.Gly627=) c.*452T>C (n.*452T>C) n.589T>C c.455T>C (p.Val152Ala) c.680T>C (p.Val227Ala) c.611T>C (p.Val204Ala) | |
| 11 | g.66851796A>T | CA381494269 | PC | c.1976T>A (p.Val659Asp) n.290-1731T>A c.1881T>A (p.Gly627=) c.*452T>A (n.*452T>A) n.589T>A c.455T>A (p.Val152Asp) c.680T>A (p.Val227Asp) c.611T>A (p.Val204Asp) | |
| 11 | g.66851797C>A | CA381494270 | PC | c.1975G>T (p.Val659Phe) n.290-1732G>T c.1880G>T (p.Gly627Val) c.*451G>T (n.*451G>T) n.588G>T c.454G>T (p.Val152Phe) c.679G>T (p.Val227Phe) c.610G>T (p.Val204Phe) | |
| 11 | g.66851797C= | CA1979881430 | PC | c.1975G= (p.Val659=) n.290-1732G= c.1880G= (p.Gly627=) c.*451G= (n.*451G=) n.588G= c.454G= (p.Val152=) c.679G= (p.Val227=) c.610G= (p.Val204=) | |
| 11 | g.66851797C>G | CA381494272 | PC | c.1975G>C (p.Val659Leu) n.290-1732G>C c.1880G>C (p.Gly627Ala) c.*451G>C (n.*451G>C) n.588G>C c.454G>C (p.Val152Leu) c.679G>C (p.Val227Leu) c.610G>C (p.Val204Leu) | |
| 11 | g.66851797C>T | CA381494274 | PC | c.1975G>A (p.Val659Ile) n.290-1732G>A c.1880G>A (p.Gly627Asp) c.*451G>A (n.*451G>A) n.588G>A c.454G>A (p.Val152Ile) c.679G>A (p.Val227Ile) c.610G>A (p.Val204Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66851798C>A | CA475372733 | PC | c.1974G>T (p.Val658=) n.290-1733G>T c.1879G>T (p.Gly627Cys) c.*450G>T (n.*450G>T) n.587G>T c.453G>T (p.Val151=) c.678G>T (p.Val226=) c.609G>T (p.Val203=) | |
| 11 | g.66851798C= | CA1979881434 | PC | c.1974G= (p.Val658=) n.290-1733G= c.1879G= (p.Gly627=) c.*450G= (n.*450G=) n.587G= c.453G= (p.Val151=) c.678G= (p.Val226=) c.609G= (p.Val203=) | |
| 11 | g.66851798C>G | CA6131211 | PC | c.1974G>C (p.Val658=) n.290-1733G>C c.1879G>C (p.Gly627Arg) c.*450G>C (n.*450G>C) n.587G>C c.453G>C (p.Val151=) c.678G>C (p.Val226=) c.609G>C (p.Val203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66851798C>T | CA475372734 | PC | c.1974G>A (p.Val658=) n.290-1733G>A c.1879G>A (p.Gly627Ser) c.*450G>A (n.*450G>A) n.587G>A c.453G>A (p.Val151=) c.678G>A (p.Val226=) c.609G>A (p.Val203=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66851799A= | CA1979881440 | PC | c.1973T= (p.Val658=) n.290-1734T= c.1878T= (p.Arg626=) c.*449T= (n.*449T=) n.586T= c.452T= (p.Val151=) c.677T= (p.Val226=) c.608T= (p.Val203=) | |
| 11 | g.66851799A>C | CA381494276 | PC | c.1973T>G (p.Val658Gly) n.290-1734T>G c.1878T>G (p.Arg626=) c.*449T>G (n.*449T>G) n.586T>G c.452T>G (p.Val151Gly) c.677T>G (p.Val226Gly) c.608T>G (p.Val203Gly) | |
| 11 | g.66851799A>G | CA224123408 | PC | c.1973T>C (p.Val658Ala) n.290-1734T>C c.1878T>C (p.Arg626=) c.*449T>C (n.*449T>C) n.586T>C c.452T>C (p.Val151Ala) c.677T>C (p.Val226Ala) c.608T>C (p.Val203Ala) | dbSNP gnomAD v4 |
| 11 | g.66851799A>T | CA381494278 | PC | c.1973T>A (p.Val658Glu) n.290-1734T>A c.1878T>A (p.Arg626=) c.*449T>A (n.*449T>A) n.586T>A c.452T>A (p.Val151Glu) c.677T>A (p.Val226Glu) c.608T>A (p.Val203Glu) | |
| 11 | g.66851800C>A | CA381494281 | PC | c.1972G>T (p.Val658Leu) n.290-1735G>T c.1877G>T (p.Arg626Leu) c.*448G>T (n.*448G>T) n.585G>T c.451G>T (p.Val151Leu) c.676G>T (p.Val226Leu) c.607G>T (p.Val203Leu) | |
| 11 | g.66851800C= | CA1979881448 | PC | c.1972G= (p.Val658=) n.290-1735G= c.1877G= (p.Arg626=) c.*448G= (n.*448G=) n.585G= c.451G= (p.Val151=) c.676G= (p.Val226=) c.607G= (p.Val203=) | |
| 11 | g.66851800C>G | CA381494279 | PC | c.1972G>C (p.Val658Leu) n.290-1735G>C c.1877G>C (p.Arg626Pro) c.*448G>C (n.*448G>C) n.585G>C c.451G>C (p.Val151Leu) c.676G>C (p.Val226Leu) c.607G>C (p.Val203Leu) | |
| 11 | g.66851800C>T | CA6131212 | PC | c.1972G>A (p.Val658Met) n.290-1735G>A c.1877G>A (p.Arg626His) c.*448G>A (n.*448G>A) n.585G>A c.451G>A (p.Val151Met) c.676G>A (p.Val226Met) c.607G>A (p.Val203Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.66851801G>A | CA6131213 | PC | c.1971C>T (p.Asn657=) n.290-1736C>T c.1876C>T (p.Arg626Cys) c.*447C>T (n.*447C>T) n.584C>T c.450C>T (p.Asn150=) c.675C>T (p.Asn225=) c.606C>T (p.Asn202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66851801G>C | CA381494283 | PC | c.1971C>G (p.Asn657Lys) n.290-1736C>G c.1876C>G (p.Arg626Gly) c.*447C>G (n.*447C>G) n.584C>G c.450C>G (p.Asn150Lys) c.675C>G (p.Asn225Lys) c.606C>G (p.Asn202Lys) | |
| 11 | g.66851801G= | CA1979881452 | PC | c.1971C= (p.Asn657=) n.290-1736C= c.1876C= (p.Arg626=) c.*447C= (n.*447C=) n.584C= c.450C= (p.Asn150=) c.675C= (p.Asn225=) c.606C= (p.Asn202=) | |
| 11 | g.66851801G>T | CA381494284 | PC | c.1971C>A (p.Asn657Lys) n.290-1736C>A c.1876C>A (p.Arg626Ser) c.*447C>A (n.*447C>A) n.584C>A c.450C>A (p.Asn150Lys) c.675C>A (p.Asn225Lys) c.606C>A (p.Asn202Lys) | |
| 11 | g.66851802T>A | CA381494286 | PC | c.1970A>T (p.Asn657Ile) n.290-1737A>T c.1875A>T (p.Gln625His) c.*446A>T (n.*446A>T) n.583A>T c.449A>T (p.Asn150Ile) c.674A>T (p.Asn225Ile) c.605A>T (p.Asn202Ile) | |
| 11 | g.66851802T>C | CA381494288 | PC | c.1970A>G (p.Asn657Ser) n.290-1737A>G c.1875A>G (p.Gln625=) c.*446A>G (n.*446A>G) n.583A>G c.449A>G (p.Asn150Ser) c.674A>G (p.Asn225Ser) c.605A>G (p.Asn202Ser) | gnomAD v4 |
| 11 | g.66851802T>G | CA381494289 | PC | c.1970A>C (p.Asn657Thr) n.290-1737A>C c.1875A>C (p.Gln625His) c.*446A>C (n.*446A>C) n.583A>C c.449A>C (p.Asn150Thr) c.674A>C (p.Asn225Thr) c.605A>C (p.Asn202Thr) | |
| 11 | g.66851803T>A | CA381494291 | PC | c.1969A>T (p.Asn657Tyr) n.290-1738A>T c.1874A>T (p.Gln625Leu) c.*445A>T (n.*445A>T) n.582A>T c.448A>T (p.Asn150Tyr) c.673A>T (p.Asn225Tyr) c.604A>T (p.Asn202Tyr) | |
| 11 | g.66851803T>C | CA381494292 | PC | c.1969A>G (p.Asn657Asp) n.290-1738A>G c.1874A>G (p.Gln625Arg) c.*445A>G (n.*445A>G) n.582A>G c.448A>G (p.Asn150Asp) c.673A>G (p.Asn225Asp) c.604A>G (p.Asn202Asp) | |
| 11 | g.66851803T>G | CA381494293 | PC | c.1969A>C (p.Asn657His) n.290-1738A>C c.1874A>C (p.Gln625Pro) c.*445A>C (n.*445A>C) n.582A>C c.448A>C (p.Asn150His) c.673A>C (p.Asn225His) c.604A>C (p.Asn202His) | |
| 11 | g.66851804G>A | CA475372735 | PC | c.1968C>T (p.Asp656=) n.290-1739C>T c.1873C>T (p.Gln625Ter) c.*444C>T (n.*444C>T) n.581C>T c.447C>T (p.Asp149=) c.672C>T (p.Asp224=) c.603C>T (p.Asp201=) | ClinVar dbSNP |
| 11 | g.66851804G>C | CA381494295 | PC | c.1968C>G (p.Asp656Glu) n.290-1739C>G c.1873C>G (p.Gln625Glu) c.*444C>G (n.*444C>G) n.581C>G c.447C>G (p.Asp149Glu) c.672C>G (p.Asp224Glu) c.603C>G (p.Asp201Glu) | |
| 11 | g.66851804G>T | CA381494297 | PC | c.1968C>A (p.Asp656Glu) n.290-1739C>A c.1873C>A (p.Gln625Lys) c.*444C>A (n.*444C>A) n.581C>A c.447C>A (p.Asp149Glu) c.672C>A (p.Asp224Glu) c.603C>A (p.Asp201Glu) | |
| 11 | g.66851805T>A | CA381494299 | PC | c.1967A>T (p.Asp656Val) n.290-1740A>T c.1872A>T (p.Arg624Ser) c.*443A>T (n.*443A>T) n.580A>T c.446A>T (p.Asp149Val) c.671A>T (p.Asp224Val) c.602A>T (p.Asp201Val) | |
| 11 | g.66851805T>C | CA381494300 | PC | c.1967A>G (p.Asp656Gly) n.290-1740A>G c.1872A>G (p.Arg624=) c.*443A>G (n.*443A>G) n.580A>G c.446A>G (p.Asp149Gly) c.671A>G (p.Asp224Gly) c.602A>G (p.Asp201Gly) | |
| 11 | g.66851805T>G | CA381494301 | PC | c.1967A>C (p.Asp656Ala) n.290-1740A>C c.1872A>C (p.Arg624Ser) c.*443A>C (n.*443A>C) n.580A>C c.446A>C (p.Asp149Ala) c.671A>C (p.Asp224Ala) c.602A>C (p.Asp201Ala) | |
| 11 | g.66851806C>A | CA381494304 | PC | c.1966G>T (p.Asp656Tyr) n.290-1741G>T c.1871G>T (p.Arg624Ile) c.*442G>T (n.*442G>T) n.579G>T c.445G>T (p.Asp149Tyr) c.670G>T (p.Asp224Tyr) c.601G>T (p.Asp201Tyr) | COSMIC |
| 11 | g.66851806C>G | CA381494302 | PC | c.1966G>C (p.Asp656His) n.290-1741G>C c.1871G>C (p.Arg624Thr) c.*442G>C (n.*442G>C) n.579G>C c.445G>C (p.Asp149His) c.670G>C (p.Asp224His) c.601G>C (p.Asp201His) | |
| 11 | g.66851806C>T | CA381494303 | PC | c.1966G>A (p.Asp656Asn) n.290-1741G>A c.1871G>A (p.Arg624Lys) c.*442G>A (n.*442G>A) n.579G>A c.445G>A (p.Asp149Asn) c.670G>A (p.Asp224Asn) c.601G>A (p.Asp201Asn) | |
| 11 | g.66851807T>A | CA475372736 | PC | c.1965A>T (p.Pro655=) n.290-1742A>T c.1870A>T (p.Arg624Ter) c.*441A>T (n.*441A>T) n.578A>T c.444A>T (p.Pro148=) c.669A>T (p.Pro223=) c.600A>T (p.Pro200=) | |
| 11 | g.66851807T>C | CA475372737 | PC | c.1965A>G (p.Pro655=) n.290-1742A>G c.1870A>G (p.Arg624Gly) c.*441A>G (n.*441A>G) n.578A>G c.444A>G (p.Pro148=) c.669A>G (p.Pro223=) c.600A>G (p.Pro200=) |