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 |
|---|---|---|---|---|---|
| 22 | g.32104793G>A | CA151364 | SLC5A1 | c.1673G>A (p.Arg558His) c.1292G>A (p.Arg431His) n.591+2045C>T n.486+15062C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.32104793G>C | CA411314492 | SLC5A1 | c.1673G>C (p.Arg558Pro) c.1292G>C (p.Arg431Pro) n.591+2045C>G n.486+15062C>G | |
| 22 | g.32104793G= | CA2401804211 | SLC5A1 | c.1673G= (p.Arg558=) c.1292G= (p.Arg431=) n.591+2045C= n.486+15062C= | |
| 22 | g.32104793G>T | CA411314487 | SLC5A1 | c.1673G>T (p.Arg558Leu) c.1292G>T (p.Arg431Leu) n.591+2045C>A n.486+15062C>A | |
| 22 | g.32104794T>A | CA514277417 | SLC5A1 | c.1674T>A (p.Arg558=) c.1293T>A (p.Arg431=) n.591+2044A>T n.486+15061A>T | |
| 22 | g.32104794T>C | CA514277418 | SLC5A1 | c.1674T>C (p.Arg558=) c.1293T>C (p.Arg431=) n.591+2044A>G n.486+15061A>G | ClinVar COSMIC |
| 22 | g.32104794T>G | CA514277419 | SLC5A1 | c.1674T>G (p.Arg558=) c.1293T>G (p.Arg431=) n.591+2044A>C n.486+15061A>C | |
| 22 | g.32104795C>A | CA411314494 | SLC5A1 | c.1675C>A (p.Leu559Met) c.1294C>A (p.Leu432Met) n.591+2043G>T n.486+15060G>T | |
| 22 | g.32104795C>G | CA411314496 | SLC5A1 | c.1675C>G (p.Leu559Val) c.1294C>G (p.Leu432Val) n.591+2043G>C n.486+15060G>C | |
| 22 | g.32104795C>T | CA514277420 | SLC5A1 | c.1675C>T (p.Leu559=) c.1294C>T (p.Leu432=) n.591+2043G>A n.486+15060G>A | gnomAD v4 |
| 22 | g.32104796T>A | CA411314498 | SLC5A1 | c.1676T>A (p.Leu559Gln) c.1295T>A (p.Leu432Gln) n.591+2042A>T n.486+15059A>T | |
| 22 | g.32104796T>C | CA411314499 | SLC5A1 | c.1676T>C (p.Leu559Pro) c.1295T>C (p.Leu432Pro) n.591+2042A>G n.486+15059A>G | |
| 22 | g.32104796T>G | CA411314502 | SLC5A1 | c.1676T>G (p.Leu559Arg) c.1295T>G (p.Leu432Arg) n.591+2042A>C n.486+15059A>C | |
| 22 | g.32104797G>A | CA514277423 | SLC5A1 | c.1677G>A (p.Leu559=) c.1296G>A (p.Leu432=) n.591+2041C>T n.486+15058C>T | gnomAD v4 |
| 22 | g.32104797G>C | CA514277422 | SLC5A1 | c.1677G>C (p.Leu559=) c.1296G>C (p.Leu432=) n.591+2041C>G n.486+15058C>G | |
| 22 | g.32104797G>T | CA514277421 | SLC5A1 | c.1677G>T (p.Leu559=) c.1296G>T (p.Leu432=) n.591+2041C>A n.486+15058C>A | |
| 22 | g.32104798T>A | CA411314504 | SLC5A1 | c.1678T>A (p.Cys560Ser) c.1297T>A (p.Cys433Ser) n.591+2040A>T n.486+15057A>T | |
| 22 | g.32104798T>C | CA411314510 | SLC5A1 | c.1678T>C (p.Cys560Arg) c.1297T>C (p.Cys433Arg) n.591+2040A>G n.486+15057A>G | |
| 22 | g.32104798T>G | CA411314503 | SLC5A1 | c.1678T>G (p.Cys560Gly) c.1297T>G (p.Cys433Gly) n.591+2040A>C n.486+15057A>C | |
| 22 | g.32104799G>A | CA411314514 | SLC5A1 | c.1679G>A (p.Cys560Tyr) c.1298G>A (p.Cys433Tyr) n.591+2039C>T n.486+15056C>T | |
| 22 | g.32104799G>C | CA411314517 | SLC5A1 | c.1679G>C (p.Cys560Ser) c.1298G>C (p.Cys433Ser) n.591+2039C>G n.486+15056C>G | |
| 22 | g.32104799G>T | CA411314519 | SLC5A1 | c.1679G>T (p.Cys560Phe) c.1298G>T (p.Cys433Phe) n.591+2039C>A n.486+15056C>A | |
| 22 | g.32104800T>A | CA411314525 | SLC5A1 | c.1680T>A (p.Cys560Ter) c.1299T>A (p.Cys433Ter) n.591+2038A>T n.486+15055A>T | |
| 22 | g.32104800T>C | CA514277424 | SLC5A1 | c.1680T>C (p.Cys560=) c.1299T>C (p.Cys433=) n.591+2038A>G n.486+15055A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.32104800T>G | CA411314529 | SLC5A1 | c.1680T>G (p.Cys560Trp) c.1299T>G (p.Cys433Trp) n.591+2038A>C n.486+15055A>C | gnomAD v4 |
| 22 | g.32104800T= | CA2401804212 | SLC5A1 | c.1680T= (p.Cys560=) c.1299T= (p.Cys433=) n.591+2038A= n.486+15055A= | |
| 22 | g.32104801T>A | CA411314535 | SLC5A1 | c.1681T>A (p.Trp561Arg) c.1300T>A (p.Trp434Arg) n.591+2037A>T n.486+15054A>T | |
| 22 | g.32104801T>C | CA411314533 | SLC5A1 | c.1681T>C (p.Trp561Arg) c.1300T>C (p.Trp434Arg) n.591+2037A>G n.486+15054A>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.32104801T>G | CA411314531 | SLC5A1 | c.1681T>G (p.Trp561Gly) c.1300T>G (p.Trp434Gly) n.591+2037A>C n.486+15054A>C | |
| 22 | g.32104801T= | CA2401804213 | SLC5A1 | c.1681T= (p.Trp561=) c.1300T= (p.Trp434=) n.591+2037A= n.486+15054A= | |
| 22 | g.32104802G>A | CA411314537 | SLC5A1 | c.1682G>A (p.Trp561Ter) c.1301G>A (p.Trp434Ter) n.591+2036C>T n.486+15053C>T | |
| 22 | g.32104802G>C | CA411314539 | SLC5A1 | c.1682G>C (p.Trp561Ser) c.1301G>C (p.Trp434Ser) n.591+2036C>G n.486+15053C>G | |
| 22 | g.32104802G>T | CA411314540 | SLC5A1 | c.1682G>T (p.Trp561Leu) c.1301G>T (p.Trp434Leu) n.591+2036C>A n.486+15053C>A | |
| 22 | g.32104803G>A | CA411314542 | SLC5A1 | c.1683G>A (p.Trp561Ter) c.1302G>A (p.Trp434Ter) n.591+2035C>T n.486+15052C>T | ClinVar |
| 22 | g.32104803G>C | CA411314544 | SLC5A1 | c.1683G>C (p.Trp561Cys) c.1302G>C (p.Trp434Cys) n.591+2035C>G n.486+15052C>G | |
| 22 | g.32104803G>T | CA411314545 | SLC5A1 | c.1683G>T (p.Trp561Cys) c.1302G>T (p.Trp434Cys) n.591+2035C>A n.486+15052C>A | |
| 22 | g.32104804A= | CA2401804214 | SLC5A1 | c.1684A= (p.Ser562=) c.1303A= (p.Ser435=) n.591+2034T= n.486+15051T= | |
| 22 | g.32104804A>C | CA411314550 | SLC5A1 | c.1684A>C (p.Ser562Arg) c.1303A>C (p.Ser435Arg) n.591+2034T>G n.486+15051T>G | |
| 22 | g.32104804A>G | CA411314547 | SLC5A1 | c.1684A>G (p.Ser562Gly) c.1303A>G (p.Ser435Gly) n.591+2034T>C n.486+15051T>C | |
| 22 | g.32104804A>T | CA411314549 | SLC5A1 | c.1684A>T (p.Ser562Cys) c.1303A>T (p.Ser435Cys) n.591+2034T>A n.486+15051T>A | dbSNP |
| 22 | g.32104805G>A | CA411314553 | SLC5A1 | c.1685G>A (p.Ser562Asn) c.1304G>A (p.Ser435Asn) n.591+2033C>T n.486+15050C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.32104805G>C | CA411314555 | SLC5A1 | c.1685G>C (p.Ser562Thr) c.1304G>C (p.Ser435Thr) n.591+2033C>G n.486+15050C>G | |
| 22 | g.32104805G= | CA2401804215 | SLC5A1 | c.1685G= (p.Ser562=) c.1304G= (p.Ser435=) n.591+2033C= n.486+15050C= | |
| 22 | g.32104805G>T | CA411314557 | SLC5A1 | c.1685G>T (p.Ser562Ile) c.1304G>T (p.Ser435Ile) n.591+2033C>A n.486+15050C>A | dbSNP |
| 22 | g.32104806C>A | CA411314560 | SLC5A1 | c.1686C>A (p.Ser562Arg) c.1305C>A (p.Ser435Arg) n.591+2032G>T n.486+15049G>T | |
| 22 | g.32104806C>G | CA411314562 | SLC5A1 | c.1686C>G (p.Ser562Arg) c.1305C>G (p.Ser435Arg) n.591+2032G>C n.486+15049G>C | gnomAD v4 |
| 22 | g.32104806C>T | CA514277425 | SLC5A1 | c.1686C>T (p.Ser562=) c.1305C>T (p.Ser435=) n.591+2032G>A n.486+15049G>A | |
| 22 | g.32104807C>A | CA411314565 | SLC5A1 | c.1687C>A (p.Leu563Met) c.1306C>A (p.Leu436Met) n.591+2031G>T n.486+15048G>T | |
| 22 | g.32104807C= | CA2401804216 | SLC5A1 | c.1687C= (p.Leu563=) c.1306C= (p.Leu436=) n.591+2031G= n.486+15048G= | |
| 22 | g.32104807C>G | CA411314566 | SLC5A1 | c.1687C>G (p.Leu563Val) c.1306C>G (p.Leu436Val) n.591+2031G>C n.486+15048G>C |