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 |
|---|---|---|---|---|---|
| 8 | g.132971804T>A | CA210702 | TG | c.5986T>A (p.Cys1996Ser) c.1352T>A c.448T>A (p.Cys150Ser) n.95T>A n.123T>A c.2641T>A c.5794T>A (p.Cys1932Ser) c.5920T>A (p.Cys1974Ser) c.5815T>A (p.Cys1939Ser) c.5767T>A (p.Cys1923Ser) c.5725T>A (p.Cys1909Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132971804T>C | CA372236539 | TG | c.5986T>C (p.Cys1996Arg) c.1352T>C c.448T>C (p.Cys150Arg) n.95T>C n.123T>C c.2641T>C c.5794T>C (p.Cys1932Arg) c.5920T>C (p.Cys1974Arg) c.5815T>C (p.Cys1939Arg) c.5767T>C (p.Cys1923Arg) c.5725T>C (p.Cys1909Arg) | |
| 8 | g.132971804T>G | CA372236541 | TG | c.5986T>G (p.Cys1996Gly) c.1352T>G c.448T>G (p.Cys150Gly) n.95T>G n.123T>G c.2641T>G c.5794T>G (p.Cys1932Gly) c.5920T>G (p.Cys1974Gly) c.5815T>G (p.Cys1939Gly) c.5767T>G (p.Cys1923Gly) c.5725T>G (p.Cys1909Gly) | |
| 8 | g.132971804T= | CA1821005033 | TG | c.5986T= (p.Cys1996=) c.1352T= c.448T= (p.Cys150=) n.95T= n.123T= c.2641T= c.5794T= (p.Cys1932=) c.5920T= (p.Cys1974=) c.5815T= (p.Cys1939=) c.5767T= (p.Cys1923=) c.5725T= (p.Cys1909=) | |
| 8 | g.132971805G>A | CA372236546 | TG | c.5987G>A (p.Cys1996Tyr) c.1353G>A c.449G>A (p.Cys150Tyr) n.96G>A n.124G>A c.2642G>A c.5795G>A (p.Cys1932Tyr) c.5921G>A (p.Cys1974Tyr) c.5816G>A (p.Cys1939Tyr) c.5768G>A (p.Cys1923Tyr) c.5726G>A (p.Cys1909Tyr) | |
| 8 | g.132971805G>C | CA372236544 | TG | c.5987G>C (p.Cys1996Ser) c.1353G>C c.449G>C (p.Cys150Ser) n.96G>C n.124G>C c.2642G>C c.5795G>C (p.Cys1932Ser) c.5921G>C (p.Cys1974Ser) c.5816G>C (p.Cys1939Ser) c.5768G>C (p.Cys1923Ser) c.5726G>C (p.Cys1909Ser) | |
| 8 | g.132971805G>T | CA372236543 | TG | c.5987G>T (p.Cys1996Phe) c.1353G>T c.449G>T (p.Cys150Phe) n.96G>T n.124G>T c.2642G>T c.5795G>T (p.Cys1932Phe) c.5921G>T (p.Cys1974Phe) c.5816G>T (p.Cys1939Phe) c.5768G>T (p.Cys1923Phe) c.5726G>T (p.Cys1909Phe) | |
| 8 | g.132971806T>A | CA372236548 | TG | c.5988T>A (p.Cys1996Ter) c.1354T>A c.450T>A (p.Cys150Ter) n.97T>A n.125T>A c.2643T>A c.5796T>A (p.Cys1932Ter) c.5922T>A (p.Cys1974Ter) c.5817T>A (p.Cys1939Ter) c.5769T>A (p.Cys1923Ter) c.5727T>A (p.Cys1909Ter) | |
| 8 | g.132971806T>C | CA463012830 | TG | c.5988T>C (p.Cys1996=) c.1354T>C c.450T>C (p.Cys150=) n.97T>C n.125T>C c.2643T>C c.5796T>C (p.Cys1932=) c.5922T>C (p.Cys1974=) c.5817T>C (p.Cys1939=) c.5769T>C (p.Cys1923=) c.5727T>C (p.Cys1909=) | gnomAD v4 |
| 8 | g.132971806T>G | CA372236551 | TG | c.5988T>G (p.Cys1996Trp) c.1354T>G c.450T>G (p.Cys150Trp) n.97T>G n.125T>G c.2643T>G c.5796T>G (p.Cys1932Trp) c.5922T>G (p.Cys1974Trp) c.5817T>G (p.Cys1939Trp) c.5769T>G (p.Cys1923Trp) c.5727T>G (p.Cys1909Trp) | |
| 8 | g.132971807G>A | CA372236553 | TG | c.5989G>A (p.Glu1997Lys) c.1355G>A c.451G>A (p.Glu151Lys) n.98G>A n.126G>A c.2644G>A c.5797G>A (p.Glu1933Lys) c.5923G>A (p.Glu1975Lys) c.5818G>A (p.Glu1940Lys) c.5770G>A (p.Glu1924Lys) c.5728G>A (p.Glu1910Lys) | |
| 8 | g.132971807G>C | CA372236556 | TG | c.5989G>C (p.Glu1997Gln) c.1355G>C c.451G>C (p.Glu151Gln) n.98G>C n.126G>C c.2644G>C c.5797G>C (p.Glu1933Gln) c.5923G>C (p.Glu1975Gln) c.5818G>C (p.Glu1940Gln) c.5770G>C (p.Glu1924Gln) c.5728G>C (p.Glu1910Gln) | |
| 8 | g.132971807G>T | CA372236557 | TG | c.5989G>T (p.Glu1997Ter) c.1355G>T c.451G>T (p.Glu151Ter) n.98G>T n.126G>T c.2644G>T c.5797G>T (p.Glu1933Ter) c.5923G>T (p.Glu1975Ter) c.5818G>T (p.Glu1940Ter) c.5770G>T (p.Glu1924Ter) c.5728G>T (p.Glu1910Ter) | |
| 8 | g.132971808A>C | CA372236560 | TG | c.5990A>C (p.Glu1997Ala) c.1356A>C c.452A>C (p.Glu151Ala) n.99A>C n.127A>C c.2645A>C c.5798A>C (p.Glu1933Ala) c.5924A>C (p.Glu1975Ala) c.5819A>C (p.Glu1940Ala) c.5771A>C (p.Glu1924Ala) c.5729A>C (p.Glu1910Ala) | |
| 8 | g.132971808A>G | CA372236563 | TG | c.5990A>G (p.Glu1997Gly) c.1356A>G c.452A>G (p.Glu151Gly) n.99A>G n.127A>G c.2645A>G c.5798A>G (p.Glu1933Gly) c.5924A>G (p.Glu1975Gly) c.5819A>G (p.Glu1940Gly) c.5771A>G (p.Glu1924Gly) c.5729A>G (p.Glu1910Gly) | |
| 8 | g.132971808A>T | CA372236566 | TG | c.5990A>T (p.Glu1997Val) c.1356A>T c.452A>T (p.Glu151Val) n.99A>T n.127A>T c.2645A>T c.5798A>T (p.Glu1933Val) c.5924A>T (p.Glu1975Val) c.5819A>T (p.Glu1940Val) c.5771A>T (p.Glu1924Val) c.5729A>T (p.Glu1910Val) | |
| 8 | g.132971809A= | CA1821005035 | TG | c.5991A= (p.Glu1997=) c.1357A= c.453A= (p.Glu151=) n.100A= n.128A= c.2646A= c.5799A= (p.Glu1933=) c.5925A= (p.Glu1975=) c.5820A= (p.Glu1940=) c.5772A= (p.Glu1924=) c.5730A= (p.Glu1910=) | |
| 8 | g.132971809A>C | CA372236567 | TG | c.5991A>C (p.Glu1997Asp) c.1357A>C c.453A>C (p.Glu151Asp) n.100A>C n.128A>C c.2646A>C c.5799A>C (p.Glu1933Asp) c.5925A>C (p.Glu1975Asp) c.5820A>C (p.Glu1940Asp) c.5772A>C (p.Glu1924Asp) c.5730A>C (p.Glu1910Asp) | |
| 8 | g.132971809A>G | CA463012836 | TG | c.5991A>G (p.Glu1997=) c.1357A>G c.453A>G (p.Glu151=) n.100A>G n.128A>G c.2646A>G c.5799A>G (p.Glu1933=) c.5925A>G (p.Glu1975=) c.5820A>G (p.Glu1940=) c.5772A>G (p.Glu1924=) c.5730A>G (p.Glu1910=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132971809A>T | CA372236569 | TG | c.5991A>T (p.Glu1997Asp) c.1357A>T c.453A>T (p.Glu151Asp) n.100A>T n.128A>T c.2646A>T c.5799A>T (p.Glu1933Asp) c.5925A>T (p.Glu1975Asp) c.5820A>T (p.Glu1940Asp) c.5772A>T (p.Glu1924Asp) c.5730A>T (p.Glu1910Asp) | |
| 8 | g.132971810C>A | CA463012837 | TG | c.5992C>A (p.Arg1998=) c.1358C>A c.454C>A (p.Arg152=) n.101C>A n.129C>A c.2647C>A c.5800C>A (p.Arg1934=) c.5926C>A (p.Arg1976=) c.5821C>A (p.Arg1941=) c.5773C>A (p.Arg1925=) c.5731C>A (p.Arg1911=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132971810C= | CA1821005037 | TG | c.5992C= (p.Arg1998=) c.1358C= c.454C= (p.Arg152=) n.101C= n.129C= c.2647C= c.5800C= (p.Arg1934=) c.5926C= (p.Arg1976=) c.5821C= (p.Arg1941=) c.5773C= (p.Arg1925=) c.5731C= (p.Arg1911=) | |
| 8 | g.132971810C>G | CA372236570 | TG | c.5992C>G (p.Arg1998Gly) c.1358C>G c.454C>G (p.Arg152Gly) n.101C>G n.129C>G c.2647C>G c.5800C>G (p.Arg1934Gly) c.5926C>G (p.Arg1976Gly) c.5821C>G (p.Arg1941Gly) c.5773C>G (p.Arg1925Gly) c.5731C>G (p.Arg1911Gly) | |
| 8 | g.132971810C>T | CA4884722 | TG | c.5992C>T (p.Arg1998Ter) c.1358C>T c.454C>T (p.Arg152Ter) n.101C>T n.129C>T c.2647C>T c.5800C>T (p.Arg1934Ter) c.5926C>T (p.Arg1976Ter) c.5821C>T (p.Arg1941Ter) c.5773C>T (p.Arg1925Ter) c.5731C>T (p.Arg1911Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132971811G>A | CA186295085 | TG | c.5993G>A (p.Arg1998Gln) c.1359G>A c.455G>A (p.Arg152Gln) n.102G>A n.130G>A c.2648G>A c.5801G>A (p.Arg1934Gln) c.5927G>A (p.Arg1976Gln) c.5822G>A (p.Arg1941Gln) c.5774G>A (p.Arg1925Gln) c.5732G>A (p.Arg1911Gln) | dbSNP gnomAD v4 COSMIC |
| 8 | g.132971811G>C | CA372236575 | TG | c.5993G>C (p.Arg1998Pro) c.1359G>C c.455G>C (p.Arg152Pro) n.102G>C n.130G>C c.2648G>C c.5801G>C (p.Arg1934Pro) c.5927G>C (p.Arg1976Pro) c.5822G>C (p.Arg1941Pro) c.5774G>C (p.Arg1925Pro) c.5732G>C (p.Arg1911Pro) | |
| 8 | g.132971811G= | CA1821005038 | TG | c.5993G= (p.Arg1998=) c.1359G= c.455G= (p.Arg152=) n.102G= n.130G= c.2648G= c.5801G= (p.Arg1934=) c.5927G= (p.Arg1976=) c.5822G= (p.Arg1941=) c.5774G= (p.Arg1925=) c.5732G= (p.Arg1911=) | |
| 8 | g.132971811G>T | CA372236577 | TG | c.5993G>T (p.Arg1998Leu) c.1359G>T c.455G>T (p.Arg152Leu) n.102G>T n.130G>T c.2648G>T c.5801G>T (p.Arg1934Leu) c.5927G>T (p.Arg1976Leu) c.5822G>T (p.Arg1941Leu) c.5774G>T (p.Arg1925Leu) c.5732G>T (p.Arg1911Leu) | dbSNP |
| 8 | g.132971812A>C | CA463012838 | TG | c.5994A>C (p.Arg1998=) c.1360A>C c.456A>C (p.Arg152=) n.103A>C n.131A>C c.2649A>C c.5802A>C (p.Arg1934=) c.5928A>C (p.Arg1976=) c.5823A>C (p.Arg1941=) c.5775A>C (p.Arg1925=) c.5733A>C (p.Arg1911=) | |
| 8 | g.132971812A>G | CA463012840 | TG | c.5994A>G (p.Arg1998=) c.1360A>G c.456A>G (p.Arg152=) n.103A>G n.131A>G c.2649A>G c.5802A>G (p.Arg1934=) c.5928A>G (p.Arg1976=) c.5823A>G (p.Arg1941=) c.5775A>G (p.Arg1925=) c.5733A>G (p.Arg1911=) | |
| 8 | g.132971812A>T | CA463012842 | TG | c.5994A>T (p.Arg1998=) c.1360A>T c.456A>T (p.Arg152=) n.103A>T n.131A>T c.2649A>T c.5802A>T (p.Arg1934=) c.5928A>T (p.Arg1976=) c.5823A>T (p.Arg1941=) c.5775A>T (p.Arg1925=) c.5733A>T (p.Arg1911=) | |
| 8 | g.132971812_132971813delinsGT | CA2739268970 | TG | c.5994_5995delinsGT (p.Arg1999Trp) c.1360_1361delinsGT c.456_457delinsGT (p.Arg153Trp) n.103_104delinsGT n.131_132delinsGT c.2649_2650delinsGT c.5802_5803delinsGT (p.Arg1935Trp) c.5928_5929delinsGT (p.Arg1977Trp) c.5823_5824delinsGT (p.Arg1942Trp) c.5775_5776delinsGT (p.Arg1926Trp) c.5733_5734delinsGT (p.Arg1912Trp) | ClinVar |
| 8 | g.132971813C>A | CA463012845 | TG | c.5995C>A (p.Arg1999=) c.1361C>A c.457C>A (p.Arg153=) n.104C>A n.132C>A c.2650C>A c.5803C>A (p.Arg1935=) c.5929C>A (p.Arg1977=) c.5824C>A (p.Arg1942=) c.5776C>A (p.Arg1926=) c.5734C>A (p.Arg1912=) | |
| 8 | g.132971813C= | CA1630835225 | TG | c.5995C= (p.Arg1999=) c.1361C= c.457C= (p.Arg153=) n.104C= n.132C= c.2650C= c.5803C= (p.Arg1935=) c.5929C= (p.Arg1977=) c.5824C= (p.Arg1942=) c.5776C= (p.Arg1926=) c.5734C= (p.Arg1912=) | |
| 8 | g.132971813C>G | CA372236580 | TG | c.5995C>G (p.Arg1999Gly) c.1361C>G c.457C>G (p.Arg153Gly) n.104C>G n.132C>G c.2650C>G c.5803C>G (p.Arg1935Gly) c.5929C>G (p.Arg1977Gly) c.5824C>G (p.Arg1942Gly) c.5776C>G (p.Arg1926Gly) c.5734C>G (p.Arg1912Gly) | |
| 8 | g.132971813C>T | CA122634 | TG | c.5995C>T (p.Arg1999Trp) c.1361C>T c.457C>T (p.Arg153Trp) n.104C>T n.132C>T c.2650C>T c.5803C>T (p.Arg1935Trp) c.5929C>T (p.Arg1977Trp) c.5824C>T (p.Arg1942Trp) c.5776C>T (p.Arg1926Trp) c.5734C>T (p.Arg1912Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132971814G>A | CA4884723 | TG | c.5996G>A (p.Arg1999Gln) c.1362G>A c.458G>A (p.Arg153Gln) n.105G>A n.133G>A c.2651G>A c.5804G>A (p.Arg1935Gln) c.5930G>A (p.Arg1977Gln) c.5825G>A (p.Arg1942Gln) c.5777G>A (p.Arg1926Gln) c.5735G>A (p.Arg1912Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132971814G>C | CA372236584 | TG | c.5996G>C (p.Arg1999Pro) c.1362G>C c.458G>C (p.Arg153Pro) n.105G>C n.133G>C c.2651G>C c.5804G>C (p.Arg1935Pro) c.5930G>C (p.Arg1977Pro) c.5825G>C (p.Arg1942Pro) c.5777G>C (p.Arg1926Pro) c.5735G>C (p.Arg1912Pro) | |
| 8 | g.132971814G= | CA1821005042 | TG | c.5996G= (p.Arg1999=) c.1362G= c.458G= (p.Arg153=) n.105G= n.133G= c.2651G= c.5804G= (p.Arg1935=) c.5930G= (p.Arg1977=) c.5825G= (p.Arg1942=) c.5777G= (p.Arg1926=) c.5735G= (p.Arg1912=) | |
| 8 | g.132971814G>T | CA372236587 | TG | c.5996G>T (p.Arg1999Leu) c.1362G>T c.458G>T (p.Arg153Leu) n.105G>T n.133G>T c.2651G>T c.5804G>T (p.Arg1935Leu) c.5930G>T (p.Arg1977Leu) c.5825G>T (p.Arg1942Leu) c.5777G>T (p.Arg1926Leu) c.5735G>T (p.Arg1912Leu) | |
| 8 | g.132971815G>A | CA463012849 | TG | c.5997G>A (p.Arg1999=) c.1363G>A c.459G>A (p.Arg153=) n.106G>A n.134G>A c.2652G>A c.5805G>A (p.Arg1935=) c.5931G>A (p.Arg1977=) c.5826G>A (p.Arg1942=) c.5778G>A (p.Arg1926=) c.5736G>A (p.Arg1912=) | |
| 8 | g.132971815G>C | CA463012850 | TG | c.5997G>C (p.Arg1999=) c.1363G>C c.459G>C (p.Arg153=) n.106G>C n.134G>C c.2652G>C c.5805G>C (p.Arg1935=) c.5931G>C (p.Arg1977=) c.5826G>C (p.Arg1942=) c.5778G>C (p.Arg1926=) c.5736G>C (p.Arg1912=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132971815G= | CA1821005044 | TG | c.5997G= (p.Arg1999=) c.1363G= c.459G= (p.Arg153=) n.106G= n.134G= c.2652G= c.5805G= (p.Arg1935=) c.5931G= (p.Arg1977=) c.5826G= (p.Arg1942=) c.5778G= (p.Arg1926=) c.5736G= (p.Arg1912=) | |
| 8 | g.132971815G>T | CA463012851 | TG | c.5997G>T (p.Arg1999=) c.1363G>T c.459G>T (p.Arg153=) n.106G>T n.134G>T c.2652G>T c.5805G>T (p.Arg1935=) c.5931G>T (p.Arg1977=) c.5826G>T (p.Arg1942=) c.5778G>T (p.Arg1926=) c.5736G>T (p.Arg1912=) | |
| 8 | g.132971816T>A | CA372236589 | TG | c.5998T>A (p.Cys2000Ser) c.1364T>A c.460T>A (p.Cys154Ser) n.107T>A n.135T>A c.2653T>A c.5806T>A (p.Cys1936Ser) c.5932T>A (p.Cys1978Ser) c.5827T>A (p.Cys1943Ser) c.5779T>A (p.Cys1927Ser) c.5737T>A (p.Cys1913Ser) | |
| 8 | g.132971816T>C | CA372236590 | TG | c.5998T>C (p.Cys2000Arg) c.1364T>C c.460T>C (p.Cys154Arg) n.107T>C n.135T>C c.2653T>C c.5806T>C (p.Cys1936Arg) c.5932T>C (p.Cys1978Arg) c.5827T>C (p.Cys1943Arg) c.5779T>C (p.Cys1927Arg) c.5737T>C (p.Cys1913Arg) | |
| 8 | g.132971816T>G | CA372236593 | TG | c.5998T>G (p.Cys2000Gly) c.1364T>G c.460T>G (p.Cys154Gly) n.107T>G n.135T>G c.2653T>G c.5806T>G (p.Cys1936Gly) c.5932T>G (p.Cys1978Gly) c.5827T>G (p.Cys1943Gly) c.5779T>G (p.Cys1927Gly) c.5737T>G (p.Cys1913Gly) | dbSNP |
| 8 | g.132971816T= | CA1821005045 | TG | c.5998T= (p.Cys2000=) c.1364T= c.460T= (p.Cys154=) n.107T= n.135T= c.2653T= c.5806T= (p.Cys1936=) c.5932T= (p.Cys1978=) c.5827T= (p.Cys1943=) c.5779T= (p.Cys1927=) c.5737T= (p.Cys1913=) | |
| 8 | g.132971816_132971817insAGTCATTCTTGCTTTGG | CA2509680665 | TG | c.5998_5999insAGTCATTCTTGCTTTGG (p.Cys2000Ter) c.1364_1365insAGTCATTCTTGCTTTGG c.460_461insAGTCATTCTTGCTTTGG (p.Cys154Ter) n.107_108insAGTCATTCTTGCTTTGG n.135_136insAGTCATTCTTGCTTTGG c.2653_2654insAGTCATTCTTGCTTTGG c.5806_5807insAGTCATTCTTGCTTTGG (p.Cys1936Ter) c.5932_5933insAGTCATTCTTGCTTTGG (p.Cys1978Ter) c.5827_5828insAGTCATTCTTGCTTTGG (p.Cys1943Ter) c.5779_5780insAGTCATTCTTGCTTTGG (p.Cys1927Ter) c.5737_5738insAGTCATTCTTGCTTTGG (p.Cys1913Ter) | |
| 8 | g.132971817G>A | CA372236596 | TG | c.5999G>A (p.Cys2000Tyr) c.1365G>A c.461G>A (p.Cys154Tyr) n.108G>A n.136G>A c.2654G>A c.5807G>A (p.Cys1936Tyr) c.5933G>A (p.Cys1978Tyr) c.5828G>A (p.Cys1943Tyr) c.5780G>A (p.Cys1927Tyr) c.5738G>A (p.Cys1913Tyr) |