UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.57669316A= | CA2306100507 | ATP8B1 | c.2097+2T= (n.2097+2T=) c.1983+2T= (n.1983+2T=) c.1377+2T= (n.1377+2T=) c.1947+2T= (n.1947+2T=) | |
| 18 | g.57669316A>C | CA402555863 | ATP8B1 | c.2097+2T>G (n.2097+2T>G) c.1983+2T>G (n.1983+2T>G) c.1377+2T>G (n.1377+2T>G) c.1947+2T>G (n.1947+2T>G) | |
| 18 | g.57669316A>G | CA254133 | ATP8B1 | c.2097+2T>C (n.2097+2T>C) c.1983+2T>C (n.1983+2T>C) c.1377+2T>C (n.1377+2T>C) c.1947+2T>C (n.1947+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57669316A>T | CA402555866 | ATP8B1 | c.2097+2T>A (n.2097+2T>A) c.1983+2T>A (n.1983+2T>A) c.1377+2T>A (n.1377+2T>A) c.1947+2T>A (n.1947+2T>A) | |
| 18 | g.57669317C>A | CA402555869 | ATP8B1 | c.2097+1G>T (n.2097+1G>T) c.1983+1G>T (n.1983+1G>T) c.1377+1G>T (n.1377+1G>T) c.1947+1G>T (n.1947+1G>T) | gnomAD v4 |
| 18 | g.57669317C>G | CA402555871 | ATP8B1 | c.2097+1G>C (n.2097+1G>C) c.1983+1G>C (n.1983+1G>C) c.1377+1G>C (n.1377+1G>C) c.1947+1G>C (n.1947+1G>C) | |
| 18 | g.57669317C>T | CA402555872 | ATP8B1 | c.2097+1G>A (n.2097+1G>A) c.1983+1G>A (n.1983+1G>A) c.1377+1G>A (n.1377+1G>A) c.1947+1G>A (n.1947+1G>A) | |
| 18 | g.57669318A= | CA2306100508 | ATP8B1 | c.2097T= (p.Ile699=) c.1983T= (p.Ile661=) c.1377T= (p.Ile459=) c.1947T= (p.Ile649=) | |
| 18 | g.57669318A>C | CA8974396 | ATP8B1 | c.2097T>G (p.Ile699Met) c.1983T>G (p.Ile661Met) c.1377T>G (p.Ile459Met) c.1947T>G (p.Ile649Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57669318A>G | CA504020530 | ATP8B1 | c.2097T>C (p.Ile699=) c.1983T>C (p.Ile661=) c.1377T>C (p.Ile459=) c.1947T>C (p.Ile649=) | |
| 18 | g.57669318A>T | CA8974397 | ATP8B1 | c.2097T>A (p.Ile699=) c.1983T>A (p.Ile661=) c.1377T>A (p.Ile459=) c.1947T>A (p.Ile649=) | dbSNP ExAC gnomAD v2 |
| 18 | g.57669319A>C | CA402555881 | ATP8B1 | c.2096T>G (p.Ile699Ser) c.1982T>G (p.Ile661Ser) c.1376T>G (p.Ile459Ser) c.1946T>G (p.Ile649Ser) | |
| 18 | g.57669319A>G | CA402555880 | ATP8B1 | c.2096T>C (p.Ile699Thr) c.1982T>C (p.Ile661Thr) c.1376T>C (p.Ile459Thr) c.1946T>C (p.Ile649Thr) | gnomAD v4 |
| 18 | g.57669319A>T | CA402555878 | ATP8B1 | c.2096T>A (p.Ile699Asn) c.1982T>A (p.Ile661Asn) c.1376T>A (p.Ile459Asn) c.1946T>A (p.Ile649Asn) | |
| 18 | g.57669320T>A | CA402555884 | ATP8B1 | c.2095A>T (p.Ile699Phe) c.1981A>T (p.Ile661Phe) c.1375A>T (p.Ile459Phe) c.1945A>T (p.Ile649Phe) | |
| 18 | g.57669320T>C | CA402555886 | ATP8B1 | c.2095A>G (p.Ile699Val) c.1981A>G (p.Ile661Val) c.1375A>G (p.Ile459Val) c.1945A>G (p.Ile649Val) | gnomAD v4 |
| 18 | g.57669320T>G | CA8974398 | ATP8B1 | c.2095A>C (p.Ile699Leu) c.1981A>C (p.Ile661Leu) c.1375A>C (p.Ile459Leu) c.1945A>C (p.Ile649Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57669320T= | CA2306100509 | ATP8B1 | c.2095A= (p.Ile699=) c.1981A= (p.Ile661=) c.1375A= (p.Ile459=) c.1945A= (p.Ile649=) | |
| 18 | g.57669321T>A | CA402555889 | ATP8B1 | c.2094A>T (p.Leu698Phe) c.1980A>T (p.Leu660Phe) c.1374A>T (p.Leu458Phe) c.1944A>T (p.Leu648Phe) | |
| 18 | g.57669321T>C | CA504020531 | ATP8B1 | c.2094A>G (p.Leu698=) c.1980A>G (p.Leu660=) c.1374A>G (p.Leu458=) c.1944A>G (p.Leu648=) | |
| 18 | g.57669321T>G | CA402555890 | ATP8B1 | c.2094A>C (p.Leu698Phe) c.1980A>C (p.Leu660Phe) c.1374A>C (p.Leu458Phe) c.1944A>C (p.Leu648Phe) | |
| 18 | g.57669322A>C | CA402555893 | ATP8B1 | c.2093T>G (p.Leu698Ter) c.1979T>G (p.Leu660Ter) c.1373T>G (p.Leu458Ter) c.1943T>G (p.Leu648Ter) | |
| 18 | g.57669322A>G | CA402555895 | ATP8B1 | c.2093T>C (p.Leu698Ser) c.1979T>C (p.Leu660Ser) c.1373T>C (p.Leu458Ser) c.1943T>C (p.Leu648Ser) | |
| 18 | g.57669322A>T | CA402555896 | ATP8B1 | c.2093T>A (p.Leu698Ter) c.1979T>A (p.Leu660Ter) c.1373T>A (p.Leu458Ter) c.1943T>A (p.Leu648Ter) | |
| 18 | g.57669323A>C | CA402555898 | ATP8B1 | c.2092T>G (p.Leu698Val) c.1978T>G (p.Leu660Val) c.1372T>G (p.Leu458Val) c.1942T>G (p.Leu648Val) | |
| 18 | g.57669323A>G | CA504020532 | ATP8B1 | c.2092T>C (p.Leu698=) c.1978T>C (p.Leu660=) c.1372T>C (p.Leu458=) c.1942T>C (p.Leu648=) | |
| 18 | g.57669323A>T | CA402555900 | ATP8B1 | c.2092T>A (p.Leu698Ile) c.1978T>A (p.Leu660Ile) c.1372T>A (p.Leu458Ile) c.1942T>A (p.Leu648Ile) | |
| 18 | g.57669324G>A | CA504020534 | ATP8B1 | c.2091C>T (p.Asp697=) c.1977C>T (p.Asp659=) c.1371C>T (p.Asp457=) c.1941C>T (p.Asp647=) | dbSNP gnomAD v4 |
| 18 | g.57669324G>C | CA402555902 | ATP8B1 | c.2091C>G (p.Asp697Glu) c.1977C>G (p.Asp659Glu) c.1371C>G (p.Asp457Glu) c.1941C>G (p.Asp647Glu) | |
| 18 | g.57669324G= | CA2306100510 | ATP8B1 | c.2091C= (p.Asp697=) c.1977C= (p.Asp659=) c.1371C= (p.Asp457=) c.1941C= (p.Asp647=) | |
| 18 | g.57669324G>T | CA402555904 | ATP8B1 | c.2091C>A (p.Asp697Glu) c.1977C>A (p.Asp659Glu) c.1371C>A (p.Asp457Glu) c.1941C>A (p.Asp647Glu) | |
| 18 | g.57669325T>A | CA402555905 | ATP8B1 | c.2090A>T (p.Asp697Val) c.1976A>T (p.Asp659Val) c.1370A>T (p.Asp457Val) c.1940A>T (p.Asp647Val) | |
| 18 | g.57669325T>C | CA402555909 | ATP8B1 | c.2090A>G (p.Asp697Gly) c.1976A>G (p.Asp659Gly) c.1370A>G (p.Asp457Gly) c.1940A>G (p.Asp647Gly) | gnomAD v4 |
| 18 | g.57669325T>G | CA402555907 | ATP8B1 | c.2090A>C (p.Asp697Ala) c.1976A>C (p.Asp659Ala) c.1370A>C (p.Asp457Ala) c.1940A>C (p.Asp647Ala) | |
| 18 | g.57669326C>A | CA8974399 | ATP8B1 | c.2089G>T (p.Asp697Tyr) c.1975G>T (p.Asp659Tyr) c.1369G>T (p.Asp457Tyr) c.1939G>T (p.Asp647Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.57669326C= | CA2306100511 | ATP8B1 | c.2089G= (p.Asp697=) c.1975G= (p.Asp659=) c.1369G= (p.Asp457=) c.1939G= (p.Asp647=) | |
| 18 | g.57669326C>G | CA402555913 | ATP8B1 | c.2089G>C (p.Asp697His) c.1975G>C (p.Asp659His) c.1369G>C (p.Asp457His) c.1939G>C (p.Asp647His) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.57669326C>T | CA402555911 | ATP8B1 | c.2089G>A (p.Asp697Asn) c.1975G>A (p.Asp659Asn) c.1369G>A (p.Asp457Asn) c.1939G>A (p.Asp647Asn) | |
| 18 | g.57669327T>A | CA402555915 | ATP8B1 | c.2088A>T (p.Lys696Asn) c.1974A>T (p.Lys658Asn) c.1368A>T (p.Lys456Asn) c.1938A>T (p.Lys646Asn) | |
| 18 | g.57669327T>C | CA504020535 | ATP8B1 | c.2088A>G (p.Lys696=) c.1974A>G (p.Lys658=) c.1368A>G (p.Lys456=) c.1938A>G (p.Lys646=) | gnomAD v4 |
| 18 | g.57669327T>G | CA402555917 | ATP8B1 | c.2088A>C (p.Lys696Asn) c.1974A>C (p.Lys658Asn) c.1368A>C (p.Lys456Asn) c.1938A>C (p.Lys646Asn) | |
| 18 | g.57669331del | CA2641953611 | ATP8B1 | c.2088del (p.Asp697ThrfsTer2) c.1974del (p.Asp659ThrfsTer2) c.1368del (p.Asp457ThrfsTer2) c.1938del (p.Asp647ThrfsTer2) | gnomAD v4 |
| 18 | g.57669328T>A | CA402555920 | ATP8B1 | c.2087A>T (p.Lys696Ile) c.1973A>T (p.Lys658Ile) c.1367A>T (p.Lys456Ile) c.1937A>T (p.Lys646Ile) | |
| 18 | g.57669328T>C | CA402555922 | ATP8B1 | c.2087A>G (p.Lys696Arg) c.1973A>G (p.Lys658Arg) c.1367A>G (p.Lys456Arg) c.1937A>G (p.Lys646Arg) | gnomAD v4 |
| 18 | g.57669328T>G | CA402555924 | ATP8B1 | c.2087A>C (p.Lys696Thr) c.1973A>C (p.Lys658Thr) c.1367A>C (p.Lys456Thr) c.1937A>C (p.Lys646Thr) | |
| 18 | g.57669329T>A | CA402555928 | ATP8B1 | c.2086A>T (p.Lys696Ter) c.1972A>T (p.Lys658Ter) c.1366A>T (p.Lys456Ter) c.1936A>T (p.Lys646Ter) | |
| 18 | g.57669329T>C | CA402555930 | ATP8B1 | c.2086A>G (p.Lys696Glu) c.1972A>G (p.Lys658Glu) c.1366A>G (p.Lys456Glu) c.1936A>G (p.Lys646Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.57669329T>G | CA402555933 | ATP8B1 | c.2086A>C (p.Lys696Gln) c.1972A>C (p.Lys658Gln) c.1366A>C (p.Lys456Gln) c.1936A>C (p.Lys646Gln) | |
| 18 | g.57669329T= | CA2306100512 | ATP8B1 | c.2086A= (p.Lys696=) c.1972A= (p.Lys658=) c.1366A= (p.Lys456=) c.1936A= (p.Lys646=) | |
| 18 | g.57669330T>A | CA402555935 | ATP8B1 | c.2085A>T (p.Glu695Asp) c.1971A>T (p.Glu657Asp) c.1365A>T (p.Glu455Asp) c.1935A>T (p.Glu645Asp) |