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 |
|---|---|---|---|---|---|
| 11 | g.18611467T>G | CA5913058 | SPTY2D1 | c.1964+10A>C (n.1964+10A>C) c.1712+10A>C (n.1712+10A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.18611467T= | CA1955682516 | SPTY2D1 | c.1964+10A= (n.1964+10A=) c.1712+10A= (n.1712+10A=) | |
| 11 | g.18611468T>C | CA597465496 | SPTY2D1 | c.1964+9A>G (n.1964+9A>G) c.1712+9A>G (n.1712+9A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.18611468T= | CA1955682519 | SPTY2D1 | c.1964+9A= (n.1964+9A=) c.1712+9A= (n.1712+9A=) | |
| 11 | g.18611470T>C | CA2790624422 | SPTY2D1 | c.1964+7A>G (n.1964+7A>G) c.1712+7A>G (n.1712+7A>G) | |
| 11 | g.18611471G>A | CA1955682523 | SPTY2D1 | c.1964+6C>T (n.1964+6C>T) c.1712+6C>T (n.1712+6C>T) | dbSNP |
| 11 | g.18611471G>C | CA2612763914 | SPTY2D1 | c.1964+6C>G (n.1964+6C>G) c.1712+6C>G (n.1712+6C>G) | gnomAD v4 |
| 11 | g.18611471G= | CA1955682521 | SPTY2D1 | c.1964+6C= (n.1964+6C=) c.1712+6C= (n.1712+6C=) | |
| 11 | g.18611473T>C | CA2574775776 | SPTY2D1 | c.1964+4A>G (n.1964+4A>G) c.1712+4A>G (n.1712+4A>G) | |
| 11 | g.18611474T>C | CA674317408 | SPTY2D1 | c.1964+3A>G (n.1964+3A>G) c.1712+3A>G (n.1712+3A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.18611474T= | CA1955682526 | SPTY2D1 | c.1964+3A= (n.1964+3A=) c.1712+3A= (n.1712+3A=) | |
| 11 | g.18611475A>C | CA379513952 | SPTY2D1 | c.1964+2T>G (n.1964+2T>G) c.1712+2T>G (n.1712+2T>G) | |
| 11 | g.18611475A>G | CA379513953 | SPTY2D1 | c.1964+2T>C (n.1964+2T>C) c.1712+2T>C (n.1712+2T>C) | |
| 11 | g.18611475A>T | CA379513954 | SPTY2D1 | c.1964+2T>A (n.1964+2T>A) c.1712+2T>A (n.1712+2T>A) | |
| 11 | g.18611476C>A | CA379513956 | SPTY2D1 | c.1964+1G>T (n.1964+1G>T) c.1712+1G>T (n.1712+1G>T) | |
| 11 | g.18611476C= | CA1955682532 | SPTY2D1 | c.1964+1G= (n.1964+1G=) c.1712+1G= (n.1712+1G=) | |
| 11 | g.18611476C>G | CA379513958 | SPTY2D1 | c.1964+1G>C (n.1964+1G>C) c.1712+1G>C (n.1712+1G>C) | |
| 11 | g.18611476C>T | CA218630896 | SPTY2D1 | c.1964+1G>A (n.1964+1G>A) c.1712+1G>A (n.1712+1G>A) | dbSNP |
| 11 | g.18611477C>A | CA379513961 | SPTY2D1 | c.1964G>T (p.Ser655Ile) c.1712G>T (p.Ser571Ile) | |
| 11 | g.18611477C>G | CA379513963 | SPTY2D1 | c.1964G>C (p.Ser655Thr) c.1712G>C (p.Ser571Thr) | |
| 11 | g.18611477C>T | CA379513965 | SPTY2D1 | c.1964G>A (p.Ser655Asn) c.1712G>A (p.Ser571Asn) | |
| 11 | g.18611478T>A | CA379513967 | SPTY2D1 | c.1963A>T (p.Ser655Cys) c.1711A>T (p.Ser571Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.18611478T>C | CA379513969 | SPTY2D1 | c.1963A>G (p.Ser655Gly) c.1711A>G (p.Ser571Gly) | |
| 11 | g.18611478T>G | CA379513971 | SPTY2D1 | c.1963A>C (p.Ser655Arg) c.1711A>C (p.Ser571Arg) | |
| 11 | g.18611478T= | CA1955682538 | SPTY2D1 | c.1963A= (p.Ser655=) c.1711A= (p.Ser571=) | |
| 11 | g.18611479C>A | CA379513973 | SPTY2D1 | c.1962G>T (p.Lys654Asn) c.1710G>T (p.Lys570Asn) | gnomAD v4 |
| 11 | g.18611479C>G | CA379513975 | SPTY2D1 | c.1962G>C (p.Lys654Asn) c.1710G>C (p.Lys570Asn) | |
| 11 | g.18611479C>T | CA473389583 | SPTY2D1 | c.1962G>A (p.Lys654=) c.1710G>A (p.Lys570=) | |
| 11 | g.18611480T>A | CA379513977 | SPTY2D1 | c.1961A>T (p.Lys654Met) c.1709A>T (p.Lys570Met) | |
| 11 | g.18611480T>C | CA379513979 | SPTY2D1 | c.1961A>G (p.Lys654Arg) c.1709A>G (p.Lys570Arg) | |
| 11 | g.18611480T>G | CA379513981 | SPTY2D1 | c.1961A>C (p.Lys654Thr) c.1709A>C (p.Lys570Thr) | |
| 11 | g.18611481T>A | CA379513982 | SPTY2D1 | c.1960A>T (p.Lys654Ter) c.1708A>T (p.Lys570Ter) | |
| 11 | g.18611481T>C | CA379513984 | SPTY2D1 | c.1960A>G (p.Lys654Glu) c.1708A>G (p.Lys570Glu) | |
| 11 | g.18611481T>G | CA379513986 | SPTY2D1 | c.1960A>C (p.Lys654Gln) c.1708A>C (p.Lys570Gln) | |
| 11 | g.18611482T>A | CA473389585 | SPTY2D1 | c.1959A>T (p.Ala653=) c.1707A>T (p.Ala569=) | |
| 11 | g.18611482T>C | CA473389586 | SPTY2D1 | c.1959A>G (p.Ala653=) c.1707A>G (p.Ala569=) | |
| 11 | g.18611482T>G | CA473389587 | SPTY2D1 | c.1959A>C (p.Ala653=) c.1707A>C (p.Ala569=) | |
| 11 | g.18611483G>A | CA379513991 | SPTY2D1 | c.1958C>T (p.Ala653Val) c.1706C>T (p.Ala569Val) | |
| 11 | g.18611483G>C | CA379513992 | SPTY2D1 | c.1958C>G (p.Ala653Gly) c.1706C>G (p.Ala569Gly) | |
| 11 | g.18611483G>T | CA379513993 | SPTY2D1 | c.1958C>A (p.Ala653Glu) c.1706C>A (p.Ala569Glu) | |
| 11 | g.18611484C>A | CA379513994 | SPTY2D1 | c.1957G>T (p.Ala653Ser) c.1705G>T (p.Ala569Ser) | dbSNP |
| 11 | g.18611484C= | CA1955682543 | SPTY2D1 | c.1957G= (p.Ala653=) c.1705G= (p.Ala569=) | |
| 11 | g.18611484C>G | CA379513995 | SPTY2D1 | c.1957G>C (p.Ala653Pro) c.1705G>C (p.Ala569Pro) | |
| 11 | g.18611484C>T | CA218630897 | SPTY2D1 | c.1957G>A (p.Ala653Thr) c.1705G>A (p.Ala569Thr) | dbSNP gnomAD v4 |
| 11 | g.18611485T>A | CA379513996 | SPTY2D1 | c.1956A>T (p.Glu652Asp) c.1704A>T (p.Glu568Asp) | |
| 11 | g.18611485T>C | CA473389589 | SPTY2D1 | c.1956A>G (p.Glu652=) c.1704A>G (p.Glu568=) | gnomAD v4 |
| 11 | g.18611485T>G | CA379513998 | SPTY2D1 | c.1956A>C (p.Glu652Asp) c.1704A>C (p.Glu568Asp) | |
| 11 | g.18611486T>A | CA379514000 | SPTY2D1 | c.1955A>T (p.Glu652Val) c.1703A>T (p.Glu568Val) | |
| 11 | g.18611486T>C | CA379514001 | SPTY2D1 | c.1955A>G (p.Glu652Gly) c.1703A>G (p.Glu568Gly) | |
| 11 | g.18611486T>G | CA379514002 | SPTY2D1 | c.1955A>C (p.Glu652Ala) c.1703A>C (p.Glu568Ala) |