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 |
|---|---|---|---|---|---|
| 10 | g.94594702A= | CA1929136075 | HELLS | c.770A= (p.Gln257=) c.2031A= (n.2031A=) c.2234A= (p.Gln745=) c.1802A= (p.Gln601=) c.2048A= (p.Gln683=) n.2096A= c.2140A= (n.2140A=) c.2000A= (p.Gln667=) c.1706A= (p.Gln569=) c.1899A= (n.1899A=) c.2015A= (n.2015A=) c.2096A= (p.Gln699=) c.1724A= (p.Gln575=) c.407A= (p.Gln136=) c.1682A= (p.Gln561=) c.1013A= (p.Gln338=) c.878A= (p.Gln293=) c.1430A= (p.Gln477=) | |
| 10 | g.94594702A>C | CA377667698 | HELLS | c.770A>C (p.Gln257Pro) c.2031A>C (n.2031A>C) c.2234A>C (p.Gln745Pro) c.1802A>C (p.Gln601Pro) c.2048A>C (p.Gln683Pro) n.2096A>C c.2140A>C (n.2140A>C) c.2000A>C (p.Gln667Pro) c.1706A>C (p.Gln569Pro) c.1899A>C (n.1899A>C) c.2015A>C (n.2015A>C) c.2096A>C (p.Gln699Pro) c.1724A>C (p.Gln575Pro) c.407A>C (p.Gln136Pro) c.1682A>C (p.Gln561Pro) c.1013A>C (p.Gln338Pro) c.878A>C (p.Gln293Pro) c.1430A>C (p.Gln477Pro) | |
| 10 | g.94594702A>G | CA10576020 | HELLS | c.770A>G (p.Gln257Arg) c.2031A>G (n.2031A>G) c.2234A>G (p.Gln745Arg) c.1802A>G (p.Gln601Arg) c.2048A>G (p.Gln683Arg) n.2096A>G c.2140A>G (n.2140A>G) c.2000A>G (p.Gln667Arg) c.1706A>G (p.Gln569Arg) c.1899A>G (n.1899A>G) c.2015A>G (n.2015A>G) c.2096A>G (p.Gln699Arg) c.1724A>G (p.Gln575Arg) c.407A>G (p.Gln136Arg) c.1682A>G (p.Gln561Arg) c.1013A>G (p.Gln338Arg) c.878A>G (p.Gln293Arg) c.1430A>G (p.Gln477Arg) | ClinVar dbSNP |
| 10 | g.94594702A>T | CA377667699 | HELLS | c.770A>T (p.Gln257Leu) c.2031A>T (n.2031A>T) c.2234A>T (p.Gln745Leu) c.1802A>T (p.Gln601Leu) c.2048A>T (p.Gln683Leu) n.2096A>T c.2140A>T (n.2140A>T) c.2000A>T (p.Gln667Leu) c.1706A>T (p.Gln569Leu) c.1899A>T (n.1899A>T) c.2015A>T (n.2015A>T) c.2096A>T (p.Gln699Leu) c.1724A>T (p.Gln575Leu) c.407A>T (p.Gln136Leu) c.1682A>T (p.Gln561Leu) c.1013A>T (p.Gln338Leu) c.878A>T (p.Gln293Leu) c.1430A>T (p.Gln477Leu) | |
| 10 | g.94594703G>A | CA470822439 | HELLS | c.771G>A (p.Gln257=) c.2032G>A (n.2032G>A) c.2235G>A (p.Gln745=) c.1803G>A (p.Gln601=) c.2049G>A (p.Gln683=) n.2097G>A c.2141G>A (n.2141G>A) c.2001G>A (p.Gln667=) c.1707G>A (p.Gln569=) c.1900G>A (n.1900G>A) c.2016G>A (n.2016G>A) c.2097G>A (p.Gln699=) c.1725G>A (p.Gln575=) c.408G>A (p.Gln136=) c.1683G>A (p.Gln561=) c.1014G>A (p.Gln338=) c.879G>A (p.Gln293=) c.1431G>A (p.Gln477=) | gnomAD v4 |
| 10 | g.94594703G>C | CA377667700 | HELLS | c.771G>C (p.Gln257His) c.2032G>C (n.2032G>C) c.2235G>C (p.Gln745His) c.1803G>C (p.Gln601His) c.2049G>C (p.Gln683His) n.2097G>C c.2141G>C (n.2141G>C) c.2001G>C (p.Gln667His) c.1707G>C (p.Gln569His) c.1900G>C (n.1900G>C) c.2016G>C (n.2016G>C) c.2097G>C (p.Gln699His) c.1725G>C (p.Gln575His) c.408G>C (p.Gln136His) c.1683G>C (p.Gln561His) c.1014G>C (p.Gln338His) c.879G>C (p.Gln293His) c.1431G>C (p.Gln477His) | |
| 10 | g.94594703G>T | CA377667701 | HELLS | c.771G>T (p.Gln257His) c.2032G>T (n.2032G>T) c.2235G>T (p.Gln745His) c.1803G>T (p.Gln601His) c.2049G>T (p.Gln683His) n.2097G>T c.2141G>T (n.2141G>T) c.2001G>T (p.Gln667His) c.1707G>T (p.Gln569His) c.1900G>T (n.1900G>T) c.2016G>T (n.2016G>T) c.2097G>T (p.Gln699His) c.1725G>T (p.Gln575His) c.408G>T (p.Gln136His) c.1683G>T (p.Gln561His) c.1014G>T (p.Gln338His) c.879G>T (p.Gln293His) c.1431G>T (p.Gln477His) | |
| 10 | g.94594704T>A | CA377667702 | HELLS | c.772T>A (p.Ser258Thr) c.2033T>A (n.2033T>A) c.2236T>A (p.Ser746Thr) c.1804T>A (p.Ser602Thr) c.2050T>A (p.Ser684Thr) n.2098T>A c.2142T>A (n.2142T>A) c.2002T>A (p.Ser668Thr) c.1708T>A (p.Ser570Thr) c.1901T>A (n.1901T>A) c.2017T>A (n.2017T>A) c.2098T>A (p.Ser700Thr) c.1726T>A (p.Ser576Thr) c.409T>A (p.Ser137Thr) c.1684T>A (p.Ser562Thr) c.1015T>A (p.Ser339Thr) c.880T>A (p.Ser294Thr) c.1432T>A (p.Ser478Thr) | |
| 10 | g.94594704T>C | CA377667703 | HELLS | c.772T>C (p.Ser258Pro) c.2033T>C (n.2033T>C) c.2236T>C (p.Ser746Pro) c.1804T>C (p.Ser602Pro) c.2050T>C (p.Ser684Pro) n.2098T>C c.2142T>C (n.2142T>C) c.2002T>C (p.Ser668Pro) c.1708T>C (p.Ser570Pro) c.1901T>C (n.1901T>C) c.2017T>C (n.2017T>C) c.2098T>C (p.Ser700Pro) c.1726T>C (p.Ser576Pro) c.409T>C (p.Ser137Pro) c.1684T>C (p.Ser562Pro) c.1015T>C (p.Ser339Pro) c.880T>C (p.Ser294Pro) c.1432T>C (p.Ser478Pro) | |
| 10 | g.94594704T>G | CA377667704 | HELLS | c.772T>G (p.Ser258Ala) c.2033T>G (n.2033T>G) c.2236T>G (p.Ser746Ala) c.1804T>G (p.Ser602Ala) c.2050T>G (p.Ser684Ala) n.2098T>G c.2142T>G (n.2142T>G) c.2002T>G (p.Ser668Ala) c.1708T>G (p.Ser570Ala) c.1901T>G (n.1901T>G) c.2017T>G (n.2017T>G) c.2098T>G (p.Ser700Ala) c.1726T>G (p.Ser576Ala) c.409T>G (p.Ser137Ala) c.1684T>G (p.Ser562Ala) c.1015T>G (p.Ser339Ala) c.880T>G (p.Ser294Ala) c.1432T>G (p.Ser478Ala) | |
| 10 | g.94594705C>A | CA377667707 | HELLS | c.773C>A (p.Ser258Ter) c.2034C>A (n.2034C>A) c.2237C>A (p.Ser746Ter) c.1805C>A (p.Ser602Ter) c.2051C>A (p.Ser684Ter) n.2099C>A c.2143C>A (n.2143C>A) c.2003C>A (p.Ser668Ter) c.1709C>A (p.Ser570Ter) c.1902C>A (n.1902C>A) c.2018C>A (n.2018C>A) c.2099C>A (p.Ser700Ter) c.1727C>A (p.Ser576Ter) c.410C>A (p.Ser137Ter) c.1685C>A (p.Ser562Ter) c.1016C>A (p.Ser339Ter) c.881C>A (p.Ser294Ter) c.1433C>A (p.Ser478Ter) | gnomAD v4 |
| 10 | g.94594705C= | CA1929136076 | HELLS | c.773C= (p.Ser258=) c.2034C= (n.2034C=) c.2237C= (p.Ser746=) c.1805C= (p.Ser602=) c.2051C= (p.Ser684=) n.2099C= c.2143C= (n.2143C=) c.2003C= (p.Ser668=) c.1709C= (p.Ser570=) c.1902C= (n.1902C=) c.2018C= (n.2018C=) c.2099C= (p.Ser700=) c.1727C= (p.Ser576=) c.410C= (p.Ser137=) c.1685C= (p.Ser562=) c.1016C= (p.Ser339=) c.881C= (p.Ser294=) c.1433C= (p.Ser478=) | |
| 10 | g.94594705C>G | CA377667706 | HELLS | c.773C>G (p.Ser258Trp) c.2034C>G (n.2034C>G) c.2237C>G (p.Ser746Trp) c.1805C>G (p.Ser602Trp) c.2051C>G (p.Ser684Trp) n.2099C>G c.2143C>G (n.2143C>G) c.2003C>G (p.Ser668Trp) c.1709C>G (p.Ser570Trp) c.1902C>G (n.1902C>G) c.2018C>G (n.2018C>G) c.2099C>G (p.Ser700Trp) c.1727C>G (p.Ser576Trp) c.410C>G (p.Ser137Trp) c.1685C>G (p.Ser562Trp) c.1016C>G (p.Ser339Trp) c.881C>G (p.Ser294Trp) c.1433C>G (p.Ser478Trp) | |
| 10 | g.94594705C>T | CA377667705 | HELLS | c.773C>T (p.Ser258Leu) c.2034C>T (n.2034C>T) c.2237C>T (p.Ser746Leu) c.1805C>T (p.Ser602Leu) c.2051C>T (p.Ser684Leu) n.2099C>T c.2143C>T (n.2143C>T) c.2003C>T (p.Ser668Leu) c.1709C>T (p.Ser570Leu) c.1902C>T (n.1902C>T) c.2018C>T (n.2018C>T) c.2099C>T (p.Ser700Leu) c.1727C>T (p.Ser576Leu) c.410C>T (p.Ser137Leu) c.1685C>T (p.Ser562Leu) c.1016C>T (p.Ser339Leu) c.881C>T (p.Ser294Leu) c.1433C>T (p.Ser478Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.94594706G>A | CA5615656 | HELLS | c.774G>A (p.Ser258=) c.2035G>A (n.2035G>A) c.2238G>A (p.Ser746=) c.1806G>A (p.Ser602=) c.2052G>A (p.Ser684=) n.2100G>A c.2144G>A (n.2144G>A) c.2004G>A (p.Ser668=) c.1710G>A (p.Ser570=) c.1903G>A (n.1903G>A) c.2019G>A (n.2019G>A) c.2100G>A (p.Ser700=) c.1728G>A (p.Ser576=) c.411G>A (p.Ser137=) c.1686G>A (p.Ser562=) c.1017G>A (p.Ser339=) c.882G>A (p.Ser294=) c.1434G>A (p.Ser478=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.94594706G>C | CA470822443 | HELLS | c.774G>C (p.Ser258=) c.2035G>C (n.2035G>C) c.2238G>C (p.Ser746=) c.1806G>C (p.Ser602=) c.2052G>C (p.Ser684=) n.2100G>C c.2144G>C (n.2144G>C) c.2004G>C (p.Ser668=) c.1710G>C (p.Ser570=) c.1903G>C (n.1903G>C) c.2019G>C (n.2019G>C) c.2100G>C (p.Ser700=) c.1728G>C (p.Ser576=) c.411G>C (p.Ser137=) c.1686G>C (p.Ser562=) c.1017G>C (p.Ser339=) c.882G>C (p.Ser294=) c.1434G>C (p.Ser478=) | |
| 10 | g.94594706G= | CA1929136077 | HELLS | c.774G= (p.Ser258=) c.2035G= (n.2035G=) c.2238G= (p.Ser746=) c.1806G= (p.Ser602=) c.2052G= (p.Ser684=) n.2100G= c.2144G= (n.2144G=) c.2004G= (p.Ser668=) c.1710G= (p.Ser570=) c.1903G= (n.1903G=) c.2019G= (n.2019G=) c.2100G= (p.Ser700=) c.1728G= (p.Ser576=) c.411G= (p.Ser137=) c.1686G= (p.Ser562=) c.1017G= (p.Ser339=) c.882G= (p.Ser294=) c.1434G= (p.Ser478=) | |
| 10 | g.94594706G>T | CA470822444 | HELLS | c.774G>T (p.Ser258=) c.2035G>T (n.2035G>T) c.2238G>T (p.Ser746=) c.1806G>T (p.Ser602=) c.2052G>T (p.Ser684=) n.2100G>T c.2144G>T (n.2144G>T) c.2004G>T (p.Ser668=) c.1710G>T (p.Ser570=) c.1903G>T (n.1903G>T) c.2019G>T (n.2019G>T) c.2100G>T (p.Ser700=) c.1728G>T (p.Ser576=) c.411G>T (p.Ser137=) c.1686G>T (p.Ser562=) c.1017G>T (p.Ser339=) c.882G>T (p.Ser294=) c.1434G>T (p.Ser478=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.94594707G>A | CA377667708 | HELLS | c.775G>A (p.Asp259Asn) c.2036G>A (n.2036G>A) c.2239G>A (p.Asp747Asn) c.1807G>A (p.Asp603Asn) c.2053G>A (p.Asp685Asn) n.2101G>A c.2145G>A (n.2145G>A) c.2005G>A (p.Asp669Asn) c.1711G>A (p.Asp571Asn) c.1904G>A (n.1904G>A) c.2020G>A (n.2020G>A) c.2101G>A (p.Asp701Asn) c.1729G>A (p.Asp577Asn) c.412G>A (p.Asp138Asn) c.1687G>A (p.Asp563Asn) c.1018G>A (p.Asp340Asn) c.883G>A (p.Asp295Asn) c.1435G>A (p.Asp479Asn) | |
| 10 | g.94594707G>C | CA377667709 | HELLS | c.775G>C (p.Asp259His) c.2036G>C (n.2036G>C) c.2239G>C (p.Asp747His) c.1807G>C (p.Asp603His) c.2053G>C (p.Asp685His) n.2101G>C c.2145G>C (n.2145G>C) c.2005G>C (p.Asp669His) c.1711G>C (p.Asp571His) c.1904G>C (n.1904G>C) c.2020G>C (n.2020G>C) c.2101G>C (p.Asp701His) c.1729G>C (p.Asp577His) c.412G>C (p.Asp138His) c.1687G>C (p.Asp563His) c.1018G>C (p.Asp340His) c.883G>C (p.Asp295His) c.1435G>C (p.Asp479His) | |
| 10 | g.94594707G>T | CA377667710 | HELLS | c.775G>T (p.Asp259Tyr) c.2036G>T (n.2036G>T) c.2239G>T (p.Asp747Tyr) c.1807G>T (p.Asp603Tyr) c.2053G>T (p.Asp685Tyr) n.2101G>T c.2145G>T (n.2145G>T) c.2005G>T (p.Asp669Tyr) c.1711G>T (p.Asp571Tyr) c.1904G>T (n.1904G>T) c.2020G>T (n.2020G>T) c.2101G>T (p.Asp701Tyr) c.1729G>T (p.Asp577Tyr) c.412G>T (p.Asp138Tyr) c.1687G>T (p.Asp563Tyr) c.1018G>T (p.Asp340Tyr) c.883G>T (p.Asp295Tyr) c.1435G>T (p.Asp479Tyr) | |
| 10 | g.94594708A>C | CA377667711 | HELLS | c.776A>C (p.Asp259Ala) c.2037A>C (n.2037A>C) c.2240A>C (p.Asp747Ala) c.1808A>C (p.Asp603Ala) c.2054A>C (p.Asp685Ala) n.2102A>C c.2146A>C (n.2146A>C) c.2006A>C (p.Asp669Ala) c.1712A>C (p.Asp571Ala) c.1905A>C (n.1905A>C) c.2021A>C (n.2021A>C) c.2102A>C (p.Asp701Ala) c.1730A>C (p.Asp577Ala) c.413A>C (p.Asp138Ala) c.1688A>C (p.Asp563Ala) c.1019A>C (p.Asp340Ala) c.884A>C (p.Asp295Ala) c.1436A>C (p.Asp479Ala) | |
| 10 | g.94594708A>G | CA377667712 | HELLS | c.776A>G (p.Asp259Gly) c.2037A>G (n.2037A>G) c.2240A>G (p.Asp747Gly) c.1808A>G (p.Asp603Gly) c.2054A>G (p.Asp685Gly) n.2102A>G c.2146A>G (n.2146A>G) c.2006A>G (p.Asp669Gly) c.1712A>G (p.Asp571Gly) c.1905A>G (n.1905A>G) c.2021A>G (n.2021A>G) c.2102A>G (p.Asp701Gly) c.1730A>G (p.Asp577Gly) c.413A>G (p.Asp138Gly) c.1688A>G (p.Asp563Gly) c.1019A>G (p.Asp340Gly) c.884A>G (p.Asp295Gly) c.1436A>G (p.Asp479Gly) | |
| 10 | g.94594708A>T | CA377667713 | HELLS | c.776A>T (p.Asp259Val) c.2037A>T (n.2037A>T) c.2240A>T (p.Asp747Val) c.1808A>T (p.Asp603Val) c.2054A>T (p.Asp685Val) n.2102A>T c.2146A>T (n.2146A>T) c.2006A>T (p.Asp669Val) c.1712A>T (p.Asp571Val) c.1905A>T (n.1905A>T) c.2021A>T (n.2021A>T) c.2102A>T (p.Asp701Val) c.1730A>T (p.Asp577Val) c.413A>T (p.Asp138Val) c.1688A>T (p.Asp563Val) c.1019A>T (p.Asp340Val) c.884A>T (p.Asp295Val) c.1436A>T (p.Asp479Val) | |
| 10 | g.94594709T>A | CA377667714 | HELLS | c.777T>A (p.Asp259Glu) c.2038T>A (n.2038T>A) c.2241T>A (p.Asp747Glu) c.1809T>A (p.Asp603Glu) c.2055T>A (p.Asp685Glu) n.2103T>A c.2147T>A (n.2147T>A) c.2007T>A (p.Asp669Glu) c.1713T>A (p.Asp571Glu) c.1906T>A (n.1906T>A) c.2022T>A (n.2022T>A) c.2103T>A (p.Asp701Glu) c.1731T>A (p.Asp577Glu) c.414T>A (p.Asp138Glu) c.1689T>A (p.Asp563Glu) c.1020T>A (p.Asp340Glu) c.885T>A (p.Asp295Glu) c.1437T>A (p.Asp479Glu) | |
| 10 | g.94594709T>C | CA470822448 | HELLS | c.777T>C (p.Asp259=) c.2038T>C (n.2038T>C) c.2241T>C (p.Asp747=) c.1809T>C (p.Asp603=) c.2055T>C (p.Asp685=) n.2103T>C c.2147T>C (n.2147T>C) c.2007T>C (p.Asp669=) c.1713T>C (p.Asp571=) c.1906T>C (n.1906T>C) c.2022T>C (n.2022T>C) c.2103T>C (p.Asp701=) c.1731T>C (p.Asp577=) c.414T>C (p.Asp138=) c.1689T>C (p.Asp563=) c.1020T>C (p.Asp340=) c.885T>C (p.Asp295=) c.1437T>C (p.Asp479=) | |
| 10 | g.94594709T>G | CA377667715 | HELLS | c.777T>G (p.Asp259Glu) c.2038T>G (n.2038T>G) c.2241T>G (p.Asp747Glu) c.1809T>G (p.Asp603Glu) c.2055T>G (p.Asp685Glu) n.2103T>G c.2147T>G (n.2147T>G) c.2007T>G (p.Asp669Glu) c.1713T>G (p.Asp571Glu) c.1906T>G (n.1906T>G) c.2022T>G (n.2022T>G) c.2103T>G (p.Asp701Glu) c.1731T>G (p.Asp577Glu) c.414T>G (p.Asp138Glu) c.1689T>G (p.Asp563Glu) c.1020T>G (p.Asp340Glu) c.885T>G (p.Asp295Glu) c.1437T>G (p.Asp479Glu) | |
| 10 | g.94594710C>A | CA377667716 | HELLS | c.778C>A (p.Leu260Ile) c.2039C>A (n.2039C>A) c.2242C>A (p.Leu748Ile) c.1810C>A (p.Leu604Ile) c.2056C>A (p.Leu686Ile) n.2104C>A c.2148C>A (n.2148C>A) c.2008C>A (p.Leu670Ile) c.1714C>A (p.Leu572Ile) c.1907C>A (n.1907C>A) c.2023C>A (n.2023C>A) c.2104C>A (p.Leu702Ile) c.1732C>A (p.Leu578Ile) c.415C>A (p.Leu139Ile) c.1690C>A (p.Leu564Ile) c.1021C>A (p.Leu341Ile) c.886C>A (p.Leu296Ile) c.1438C>A (p.Leu480Ile) | gnomAD v4 |
| 10 | g.94594710C>G | CA377667717 | HELLS | c.778C>G (p.Leu260Val) c.2039C>G (n.2039C>G) c.2242C>G (p.Leu748Val) c.1810C>G (p.Leu604Val) c.2056C>G (p.Leu686Val) n.2104C>G c.2148C>G (n.2148C>G) c.2008C>G (p.Leu670Val) c.1714C>G (p.Leu572Val) c.1907C>G (n.1907C>G) c.2023C>G (n.2023C>G) c.2104C>G (p.Leu702Val) c.1732C>G (p.Leu578Val) c.415C>G (p.Leu139Val) c.1690C>G (p.Leu564Val) c.1021C>G (p.Leu341Val) c.886C>G (p.Leu296Val) c.1438C>G (p.Leu480Val) | |
| 10 | g.94594710C>T | CA377667718 | HELLS | c.778C>T (p.Leu260Phe) c.2039C>T (n.2039C>T) c.2242C>T (p.Leu748Phe) c.1810C>T (p.Leu604Phe) c.2056C>T (p.Leu686Phe) n.2104C>T c.2148C>T (n.2148C>T) c.2008C>T (p.Leu670Phe) c.1714C>T (p.Leu572Phe) c.1907C>T (n.1907C>T) c.2023C>T (n.2023C>T) c.2104C>T (p.Leu702Phe) c.1732C>T (p.Leu578Phe) c.415C>T (p.Leu139Phe) c.1690C>T (p.Leu564Phe) c.1021C>T (p.Leu341Phe) c.886C>T (p.Leu296Phe) c.1438C>T (p.Leu480Phe) | |
| 10 | g.94594711T>A | CA377667720 | HELLS | c.779T>A (p.Leu260His) c.2040T>A (n.2040T>A) c.2243T>A (p.Leu748His) c.1811T>A (p.Leu604His) c.2057T>A (p.Leu686His) n.2105T>A c.2149T>A (n.2149T>A) c.2009T>A (p.Leu670His) c.1715T>A (p.Leu572His) c.1908T>A (n.1908T>A) c.2024T>A (n.2024T>A) c.2105T>A (p.Leu702His) c.1733T>A (p.Leu578His) c.416T>A (p.Leu139His) c.1691T>A (p.Leu564His) c.1022T>A (p.Leu341His) c.887T>A (p.Leu296His) c.1439T>A (p.Leu480His) | |
| 10 | g.94594711T>C | CA211678005 | HELLS | c.779T>C (p.Leu260Pro) c.2040T>C (n.2040T>C) c.2243T>C (p.Leu748Pro) c.1811T>C (p.Leu604Pro) c.2057T>C (p.Leu686Pro) n.2105T>C c.2149T>C (n.2149T>C) c.2009T>C (p.Leu670Pro) c.1715T>C (p.Leu572Pro) c.1908T>C (n.1908T>C) c.2024T>C (n.2024T>C) c.2105T>C (p.Leu702Pro) c.1733T>C (p.Leu578Pro) c.416T>C (p.Leu139Pro) c.1691T>C (p.Leu564Pro) c.1022T>C (p.Leu341Pro) c.887T>C (p.Leu296Pro) c.1439T>C (p.Leu480Pro) | dbSNP |
| 10 | g.94594711T>G | CA377667719 | HELLS | c.779T>G (p.Leu260Arg) c.2040T>G (n.2040T>G) c.2243T>G (p.Leu748Arg) c.1811T>G (p.Leu604Arg) c.2057T>G (p.Leu686Arg) n.2105T>G c.2149T>G (n.2149T>G) c.2009T>G (p.Leu670Arg) c.1715T>G (p.Leu572Arg) c.1908T>G (n.1908T>G) c.2024T>G (n.2024T>G) c.2105T>G (p.Leu702Arg) c.1733T>G (p.Leu578Arg) c.416T>G (p.Leu139Arg) c.1691T>G (p.Leu564Arg) c.1022T>G (p.Leu341Arg) c.887T>G (p.Leu296Arg) c.1439T>G (p.Leu480Arg) | |
| 10 | g.94594711T= | CA1929136078 | HELLS | c.779T= (p.Leu260=) c.2040T= (n.2040T=) c.2243T= (p.Leu748=) c.1811T= (p.Leu604=) c.2057T= (p.Leu686=) n.2105T= c.2149T= (n.2149T=) c.2009T= (p.Leu670=) c.1715T= (p.Leu572=) c.1908T= (n.1908T=) c.2024T= (n.2024T=) c.2105T= (p.Leu702=) c.1733T= (p.Leu578=) c.416T= (p.Leu139=) c.1691T= (p.Leu564=) c.1022T= (p.Leu341=) c.887T= (p.Leu296=) c.1439T= (p.Leu480=) | |
| 10 | g.94594712T>A | CA470822451 | HELLS | c.780T>A (p.Leu260=) c.2041T>A (n.2041T>A) c.2244T>A (p.Leu748=) c.1812T>A (p.Leu604=) c.2058T>A (p.Leu686=) n.2106T>A c.2150T>A (n.2150T>A) c.2010T>A (p.Leu670=) c.1716T>A (p.Leu572=) c.1909T>A (n.1909T>A) c.2025T>A (n.2025T>A) c.2106T>A (p.Leu702=) c.1734T>A (p.Leu578=) c.417T>A (p.Leu139=) c.1692T>A (p.Leu564=) c.1023T>A (p.Leu341=) c.888T>A (p.Leu296=) c.1440T>A (p.Leu480=) | |
| 10 | g.94594712T>C | CA470822452 | HELLS | c.780T>C (p.Leu260=) c.2041T>C (n.2041T>C) c.2244T>C (p.Leu748=) c.1812T>C (p.Leu604=) c.2058T>C (p.Leu686=) n.2106T>C c.2150T>C (n.2150T>C) c.2010T>C (p.Leu670=) c.1716T>C (p.Leu572=) c.1909T>C (n.1909T>C) c.2025T>C (n.2025T>C) c.2106T>C (p.Leu702=) c.1734T>C (p.Leu578=) c.417T>C (p.Leu139=) c.1692T>C (p.Leu564=) c.1023T>C (p.Leu341=) c.888T>C (p.Leu296=) c.1440T>C (p.Leu480=) | |
| 10 | g.94594712T>G | CA470822453 | HELLS | c.780T>G (p.Leu260=) c.2041T>G (n.2041T>G) c.2244T>G (p.Leu748=) c.1812T>G (p.Leu604=) c.2058T>G (p.Leu686=) n.2106T>G c.2150T>G (n.2150T>G) c.2010T>G (p.Leu670=) c.1716T>G (p.Leu572=) c.1909T>G (n.1909T>G) c.2025T>G (n.2025T>G) c.2106T>G (p.Leu702=) c.1734T>G (p.Leu578=) c.417T>G (p.Leu139=) c.1692T>G (p.Leu564=) c.1023T>G (p.Leu341=) c.888T>G (p.Leu296=) c.1440T>G (p.Leu480=) | gnomAD v4 |
| 10 | g.94594713C>A | CA377667721 | HELLS | c.781C>A (p.Gln261Lys) c.2042C>A (n.2042C>A) c.2245C>A (p.Gln749Lys) c.1813C>A (p.Gln605Lys) c.2059C>A (p.Gln687Lys) n.2107C>A c.2151C>A (n.2151C>A) c.2011C>A (p.Gln671Lys) c.1717C>A (p.Gln573Lys) c.1910C>A (n.1910C>A) c.2026C>A (n.2026C>A) c.2107C>A (p.Gln703Lys) c.1735C>A (p.Gln579Lys) c.418C>A (p.Gln140Lys) c.1693C>A (p.Gln565Lys) c.1024C>A (p.Gln342Lys) c.889C>A (p.Gln297Lys) c.1441C>A (p.Gln481Lys) | |
| 10 | g.94594713C>G | CA377667722 | HELLS | c.781C>G (p.Gln261Glu) c.2042C>G (n.2042C>G) c.2245C>G (p.Gln749Glu) c.1813C>G (p.Gln605Glu) c.2059C>G (p.Gln687Glu) n.2107C>G c.2151C>G (n.2151C>G) c.2011C>G (p.Gln671Glu) c.1717C>G (p.Gln573Glu) c.1910C>G (n.1910C>G) c.2026C>G (n.2026C>G) c.2107C>G (p.Gln703Glu) c.1735C>G (p.Gln579Glu) c.418C>G (p.Gln140Glu) c.1693C>G (p.Gln565Glu) c.1024C>G (p.Gln342Glu) c.889C>G (p.Gln297Glu) c.1441C>G (p.Gln481Glu) | |
| 10 | g.94594713C>T | CA377667723 | HELLS | c.781C>T (p.Gln261Ter) c.2042C>T (n.2042C>T) c.2245C>T (p.Gln749Ter) c.1813C>T (p.Gln605Ter) c.2059C>T (p.Gln687Ter) n.2107C>T c.2151C>T (n.2151C>T) c.2011C>T (p.Gln671Ter) c.1717C>T (p.Gln573Ter) c.1910C>T (n.1910C>T) c.2026C>T (n.2026C>T) c.2107C>T (p.Gln703Ter) c.1735C>T (p.Gln579Ter) c.418C>T (p.Gln140Ter) c.1693C>T (p.Gln565Ter) c.1024C>T (p.Gln342Ter) c.889C>T (p.Gln297Ter) c.1441C>T (p.Gln481Ter) | |
| 10 | g.94594714A>C | CA377667724 | HELLS | c.782A>C (p.Gln261Pro) c.2043A>C (n.2043A>C) c.2246A>C (p.Gln749Pro) c.1814A>C (p.Gln605Pro) c.2060A>C (p.Gln687Pro) n.2108A>C c.2152A>C (n.2152A>C) c.2012A>C (p.Gln671Pro) c.1718A>C (p.Gln573Pro) c.1911A>C (n.1911A>C) c.2027A>C (n.2027A>C) c.2108A>C (p.Gln703Pro) c.1736A>C (p.Gln579Pro) c.419A>C (p.Gln140Pro) c.1694A>C (p.Gln565Pro) c.1025A>C (p.Gln342Pro) c.890A>C (p.Gln297Pro) c.1442A>C (p.Gln481Pro) | |
| 10 | g.94594714A>G | CA377667725 | HELLS | c.782A>G (p.Gln261Arg) c.2043A>G (n.2043A>G) c.2246A>G (p.Gln749Arg) c.1814A>G (p.Gln605Arg) c.2060A>G (p.Gln687Arg) n.2108A>G c.2152A>G (n.2152A>G) c.2012A>G (p.Gln671Arg) c.1718A>G (p.Gln573Arg) c.1911A>G (n.1911A>G) c.2027A>G (n.2027A>G) c.2108A>G (p.Gln703Arg) c.1736A>G (p.Gln579Arg) c.419A>G (p.Gln140Arg) c.1694A>G (p.Gln565Arg) c.1025A>G (p.Gln342Arg) c.890A>G (p.Gln297Arg) c.1442A>G (p.Gln481Arg) | |
| 10 | g.94594714A>T | CA377667726 | HELLS | c.782A>T (p.Gln261Leu) c.2043A>T (n.2043A>T) c.2246A>T (p.Gln749Leu) c.1814A>T (p.Gln605Leu) c.2060A>T (p.Gln687Leu) n.2108A>T c.2152A>T (n.2152A>T) c.2012A>T (p.Gln671Leu) c.1718A>T (p.Gln573Leu) c.1911A>T (n.1911A>T) c.2027A>T (n.2027A>T) c.2108A>T (p.Gln703Leu) c.1736A>T (p.Gln579Leu) c.419A>T (p.Gln140Leu) c.1694A>T (p.Gln565Leu) c.1025A>T (p.Gln342Leu) c.890A>T (p.Gln297Leu) c.1442A>T (p.Gln481Leu) | |
| 10 | g.94594715G>A | CA470822456 | HELLS | c.783G>A (p.Gln261=) c.2044G>A (n.2044G>A) c.2247G>A (p.Gln749=) c.1815G>A (p.Gln605=) c.2061G>A (p.Gln687=) n.2109G>A c.2153G>A (n.2153G>A) c.2013G>A (p.Gln671=) c.1719G>A (p.Gln573=) c.1912G>A (n.1912G>A) c.2028G>A (n.2028G>A) c.2109G>A (p.Gln703=) c.1737G>A (p.Gln579=) c.420G>A (p.Gln140=) c.1695G>A (p.Gln565=) c.1026G>A (p.Gln342=) c.891G>A (p.Gln297=) c.1443G>A (p.Gln481=) | |
| 10 | g.94594715G>C | CA377667728 | HELLS | c.783G>C (p.Gln261His) c.2044G>C (n.2044G>C) c.2247G>C (p.Gln749His) c.1815G>C (p.Gln605His) c.2061G>C (p.Gln687His) n.2109G>C c.2153G>C (n.2153G>C) c.2013G>C (p.Gln671His) c.1719G>C (p.Gln573His) c.1912G>C (n.1912G>C) c.2028G>C (n.2028G>C) c.2109G>C (p.Gln703His) c.1737G>C (p.Gln579His) c.420G>C (p.Gln140His) c.1695G>C (p.Gln565His) c.1026G>C (p.Gln342His) c.891G>C (p.Gln297His) c.1443G>C (p.Gln481His) | |
| 10 | g.94594715G>T | CA377667729 | HELLS | c.783G>T (p.Gln261His) c.2044G>T (n.2044G>T) c.2247G>T (p.Gln749His) c.1815G>T (p.Gln605His) c.2061G>T (p.Gln687His) n.2109G>T c.2153G>T (n.2153G>T) c.2013G>T (p.Gln671His) c.1719G>T (p.Gln573His) c.1912G>T (n.1912G>T) c.2028G>T (n.2028G>T) c.2109G>T (p.Gln703His) c.1737G>T (p.Gln579His) c.420G>T (p.Gln140His) c.1695G>T (p.Gln565His) c.1026G>T (p.Gln342His) c.891G>T (p.Gln297His) c.1443G>T (p.Gln481His) | |
| 10 | g.94594716G>A | CA377667731 | HELLS | c.784G>A (p.Ala262Thr) c.2045G>A (n.2045G>A) c.2248G>A (p.Ala750Thr) c.1816G>A (p.Ala606Thr) c.2062G>A (p.Ala688Thr) n.2110G>A c.2154G>A (n.2154G>A) c.2014G>A (p.Ala672Thr) c.1720G>A (p.Ala574Thr) c.1913G>A (n.1913G>A) c.2029G>A (n.2029G>A) c.2110G>A (p.Ala704Thr) c.1738G>A (p.Ala580Thr) c.421G>A (p.Ala141Thr) c.1696G>A (p.Ala566Thr) c.1027G>A (p.Ala343Thr) c.892G>A (p.Ala298Thr) c.1444G>A (p.Ala482Thr) | |
| 10 | g.94594716G>C | CA377667733 | HELLS | c.784G>C (p.Ala262Pro) c.2045G>C (n.2045G>C) c.2248G>C (p.Ala750Pro) c.1816G>C (p.Ala606Pro) c.2062G>C (p.Ala688Pro) n.2110G>C c.2154G>C (n.2154G>C) c.2014G>C (p.Ala672Pro) c.1720G>C (p.Ala574Pro) c.1913G>C (n.1913G>C) c.2029G>C (n.2029G>C) c.2110G>C (p.Ala704Pro) c.1738G>C (p.Ala580Pro) c.421G>C (p.Ala141Pro) c.1696G>C (p.Ala566Pro) c.1027G>C (p.Ala343Pro) c.892G>C (p.Ala298Pro) c.1444G>C (p.Ala482Pro) | |
| 10 | g.94594716G>T | CA377667735 | HELLS | c.784G>T (p.Ala262Ser) c.2045G>T (n.2045G>T) c.2248G>T (p.Ala750Ser) c.1816G>T (p.Ala606Ser) c.2062G>T (p.Ala688Ser) n.2110G>T c.2154G>T (n.2154G>T) c.2014G>T (p.Ala672Ser) c.1720G>T (p.Ala574Ser) c.1913G>T (n.1913G>T) c.2029G>T (n.2029G>T) c.2110G>T (p.Ala704Ser) c.1738G>T (p.Ala580Ser) c.421G>T (p.Ala141Ser) c.1696G>T (p.Ala566Ser) c.1027G>T (p.Ala343Ser) c.892G>T (p.Ala298Ser) c.1444G>T (p.Ala482Ser) | |
| 10 | g.94594717C>A | CA377667738 | HELLS | c.785C>A (p.Ala262Asp) c.2046C>A (n.2046C>A) c.2249C>A (p.Ala750Asp) c.1817C>A (p.Ala606Asp) c.2063C>A (p.Ala688Asp) n.2111C>A c.2155C>A (n.2155C>A) c.2015C>A (p.Ala672Asp) c.1721C>A (p.Ala574Asp) c.1914C>A (n.1914C>A) c.2030C>A (n.2030C>A) c.2111C>A (p.Ala704Asp) c.1739C>A (p.Ala580Asp) c.422C>A (p.Ala141Asp) c.1697C>A (p.Ala566Asp) c.1028C>A (p.Ala343Asp) c.893C>A (p.Ala298Asp) c.1445C>A (p.Ala482Asp) |