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 |
|---|---|---|---|---|---|
| 16 | g.74630845T>A | CA396760245 | RFWD3 | c.1690A>T (p.Ile564Phe) n.324A>T c.1577+1678A>T (n.1577+1678A>T) c.856A>T (p.Ile286Phe) | gnomAD v4 |
| 16 | g.74630845T>C | CA8169109 | RFWD3 | c.1690A>G (p.Ile564Val) n.324A>G c.1577+1678A>G (n.1577+1678A>G) c.856A>G (p.Ile286Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74630845T>G | CA396760246 | RFWD3 | c.1690A>C (p.Ile564Leu) n.324A>C c.1577+1678A>C (n.1577+1678A>C) c.856A>C (p.Ile286Leu) | gnomAD v4 |
| 16 | g.74630845T= | CA2232896418 | RFWD3 | c.1690A= (p.Ile564=) n.324A= c.1577+1678A= (n.1577+1678A=) c.856A= (p.Ile286=) | |
| 16 | g.74630846T>A | CA496538996 | RFWD3 | c.1689A>T (p.Ser563=) n.323A>T c.1577+1677A>T (n.1577+1677A>T) c.855A>T (p.Ser285=) | |
| 16 | g.74630846T>C | CA283742280 | RFWD3 | c.1689A>G (p.Ser563=) n.323A>G c.1577+1677A>G (n.1577+1677A>G) c.855A>G (p.Ser285=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74630846T>G | CA496538998 | RFWD3 | c.1689A>C (p.Ser563=) n.323A>C c.1577+1677A>C (n.1577+1677A>C) c.855A>C (p.Ser285=) | |
| 16 | g.74630846T= | CA2232896420 | RFWD3 | c.1689A= (p.Ser563=) n.323A= c.1577+1677A= (n.1577+1677A=) c.855A= (p.Ser285=) | |
| 16 | g.74630847G>A | CA396760247 | RFWD3 | c.1688C>T (p.Ser563Leu) n.322C>T c.1577+1676C>T (n.1577+1676C>T) c.854C>T (p.Ser285Leu) | gnomAD v4 |
| 16 | g.74630847G>C | CA396760248 | RFWD3 | c.1688C>G (p.Ser563Ter) n.322C>G c.1577+1676C>G (n.1577+1676C>G) c.854C>G (p.Ser285Ter) | |
| 16 | g.74630847G>T | CA396760249 | RFWD3 | c.1688C>A (p.Ser563Ter) n.322C>A c.1577+1676C>A (n.1577+1676C>A) c.854C>A (p.Ser285Ter) | gnomAD v4 |
| 16 | g.74630848A>C | CA396760250 | RFWD3 | c.1687T>G (p.Ser563Ala) n.321T>G c.1577+1675T>G (n.1577+1675T>G) c.853T>G (p.Ser285Ala) | |
| 16 | g.74630848A>G | CA396760251 | RFWD3 | c.1687T>C (p.Ser563Pro) n.321T>C c.1577+1675T>C (n.1577+1675T>C) c.853T>C (p.Ser285Pro) | |
| 16 | g.74630848A>T | CA396760252 | RFWD3 | c.1687T>A (p.Ser563Thr) n.321T>A c.1577+1675T>A (n.1577+1675T>A) c.853T>A (p.Ser285Thr) | |
| 16 | g.74630849A>C | CA496539008 | RFWD3 | c.1686T>G (p.Gly562=) n.320T>G c.1577+1674T>G (n.1577+1674T>G) c.852T>G (p.Gly284=) | |
| 16 | g.74630849A>G | CA496539009 | RFWD3 | c.1686T>C (p.Gly562=) n.320T>C c.1577+1674T>C (n.1577+1674T>C) c.852T>C (p.Gly284=) | gnomAD v4 |
| 16 | g.74630849A>T | CA496539011 | RFWD3 | c.1686T>A (p.Gly562=) n.320T>A c.1577+1674T>A (n.1577+1674T>A) c.852T>A (p.Gly284=) | |
| 16 | g.74630850C>A | CA396760253 | RFWD3 | c.1685G>T (p.Gly562Val) n.319G>T c.1577+1673G>T (n.1577+1673G>T) c.851G>T (p.Gly284Val) | gnomAD v4 |
| 16 | g.74630850C= | CA2232896424 | RFWD3 | c.1685G= (p.Gly562=) n.319G= c.1577+1673G= (n.1577+1673G=) c.851G= (p.Gly284=) | |
| 16 | g.74630850C>G | CA396760254 | RFWD3 | c.1685G>C (p.Gly562Ala) n.319G>C c.1577+1673G>C (n.1577+1673G>C) c.851G>C (p.Gly284Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74630850C>T | CA396760255 | RFWD3 | c.1685G>A (p.Gly562Asp) n.319G>A c.1577+1673G>A (n.1577+1673G>A) c.851G>A (p.Gly284Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74630851C>A | CA396760258 | RFWD3 | c.1684G>T (p.Gly562Cys) n.318G>T c.1577+1672G>T (n.1577+1672G>T) c.850G>T (p.Gly284Cys) | |
| 16 | g.74630851C>G | CA396760256 | RFWD3 | c.1684G>C (p.Gly562Arg) n.318G>C c.1577+1672G>C (n.1577+1672G>C) c.850G>C (p.Gly284Arg) | |
| 16 | g.74630851C>T | CA396760257 | RFWD3 | c.1684G>A (p.Gly562Ser) n.318G>A c.1577+1672G>A (n.1577+1672G>A) c.850G>A (p.Gly284Ser) | |
| 16 | g.74630852A>C | CA396760259 | RFWD3 | c.1683T>G (p.Asn561Lys) n.317T>G c.1577+1671T>G (n.1577+1671T>G) c.849T>G (p.Asn283Lys) | |
| 16 | g.74630852A>G | CA496539022 | RFWD3 | c.1683T>C (p.Asn561=) n.317T>C c.1577+1671T>C (n.1577+1671T>C) c.849T>C (p.Asn283=) | |
| 16 | g.74630852A>T | CA396760260 | RFWD3 | c.1683T>A (p.Asn561Lys) n.317T>A c.1577+1671T>A (n.1577+1671T>A) c.849T>A (p.Asn283Lys) | |
| 16 | g.74630853T>A | CA396760261 | RFWD3 | c.1682A>T (p.Asn561Ile) n.316A>T c.1577+1670A>T (n.1577+1670A>T) c.848A>T (p.Asn283Ile) | |
| 16 | g.74630853T>C | CA8169110 | RFWD3 | c.1682A>G (p.Asn561Ser) n.316A>G c.1577+1670A>G (n.1577+1670A>G) c.848A>G (p.Asn283Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74630853T>G | CA396760262 | RFWD3 | c.1682A>C (p.Asn561Thr) n.316A>C c.1577+1670A>C (n.1577+1670A>C) c.848A>C (p.Asn283Thr) | |
| 16 | g.74630853T= | CA2232896426 | RFWD3 | c.1682A= (p.Asn561=) n.316A= c.1577+1670A= (n.1577+1670A=) c.848A= (p.Asn283=) | |
| 16 | g.74630854T>A | CA396760263 | RFWD3 | c.1681A>T (p.Asn561Tyr) n.315A>T c.1577+1669A>T (n.1577+1669A>T) c.847A>T (p.Asn283Tyr) | |
| 16 | g.74630854T>C | CA396760264 | RFWD3 | c.1681A>G (p.Asn561Asp) n.315A>G c.1577+1669A>G (n.1577+1669A>G) c.847A>G (p.Asn283Asp) | |
| 16 | g.74630854T>G | CA396760265 | RFWD3 | c.1681A>C (p.Asn561His) n.315A>C c.1577+1669A>C (n.1577+1669A>C) c.847A>C (p.Asn283His) | gnomAD v4 |
| 16 | g.74630855G>A | CA283742281 | RFWD3 | c.1680C>T (p.Ala560=) n.314C>T c.1577+1668C>T (n.1577+1668C>T) c.846C>T (p.Ala282=) | dbSNP gnomAD v4 |
| 16 | g.74630855G>C | CA496539031 | RFWD3 | c.1680C>G (p.Ala560=) n.314C>G c.1577+1668C>G (n.1577+1668C>G) c.846C>G (p.Ala282=) | |
| 16 | g.74630855G= | CA2232896428 | RFWD3 | c.1680C= (p.Ala560=) n.314C= c.1577+1668C= (n.1577+1668C=) c.846C= (p.Ala282=) | |
| 16 | g.74630855G>T | CA496539033 | RFWD3 | c.1680C>A (p.Ala560=) n.314C>A c.1577+1668C>A (n.1577+1668C>A) c.846C>A (p.Ala282=) | |
| 16 | g.74630856G>A | CA396760266 | RFWD3 | c.1679C>T (p.Ala560Val) n.313C>T c.1577+1667C>T (n.1577+1667C>T) c.845C>T (p.Ala282Val) | |
| 16 | g.74630856G>C | CA396760267 | RFWD3 | c.1679C>G (p.Ala560Gly) n.313C>G c.1577+1667C>G (n.1577+1667C>G) c.845C>G (p.Ala282Gly) | dbSNP |
| 16 | g.74630856G= | CA2232896433 | RFWD3 | c.1679C= (p.Ala560=) n.313C= c.1577+1667C= (n.1577+1667C=) c.845C= (p.Ala282=) | |
| 16 | g.74630856G>T | CA396760268 | RFWD3 | c.1679C>A (p.Ala560Asp) n.313C>A c.1577+1667C>A (n.1577+1667C>A) c.845C>A (p.Ala282Asp) | |
| 16 | g.74630857C>A | CA396760270 | RFWD3 | c.1678G>T (p.Ala560Ser) n.312G>T c.1577+1666G>T (n.1577+1666G>T) c.844G>T (p.Ala282Ser) | |
| 16 | g.74630857C>G | CA396760271 | RFWD3 | c.1678G>C (p.Ala560Pro) n.312G>C c.1577+1666G>C (n.1577+1666G>C) c.844G>C (p.Ala282Pro) | |
| 16 | g.74630857C>T | CA396760269 | RFWD3 | c.1678G>A (p.Ala560Thr) n.312G>A c.1577+1666G>A (n.1577+1666G>A) c.844G>A (p.Ala282Thr) | gnomAD v4 |
| 16 | g.74630858del | CA2598344172 | RFWD3 | c.1678del (p.Ala560ProfsTer20) n.312del c.1577+1666del (n.1577+1666del) c.844del (p.Ala282ProfsTer20) | gnomAD v3 gnomAD v4 |
| 16 | g.74630858C>A | CA496539042 | RFWD3 | c.1677G>T (p.Leu559=) n.311G>T c.1577+1665G>T (n.1577+1665G>T) c.843G>T (p.Leu281=) | |
| 16 | g.74630858C>G | CA496539040 | RFWD3 | c.1677G>C (p.Leu559=) n.311G>C c.1577+1665G>C (n.1577+1665G>C) c.843G>C (p.Leu281=) | |
| 16 | g.74630858C>T | CA496539041 | RFWD3 | c.1677G>A (p.Leu559=) n.311G>A c.1577+1665G>A (n.1577+1665G>A) c.843G>A (p.Leu281=) | gnomAD v4 |
| 16 | g.74630859A>C | CA396760273 | RFWD3 | c.1676T>G (p.Leu559Arg) n.310T>G c.1577+1664T>G (n.1577+1664T>G) c.842T>G (p.Leu281Arg) |