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 |
|---|---|---|---|---|---|
| 6 | g.29672752C>A | CA363043383 | ZFP57 | c.1359G>T (p.Glu453Asp) c.1143G>T (p.Glu381Asp) c.1107G>T (p.Glu369Asp) c.1299G>T (p.Glu433Asp) | |
| 6 | g.29672752C= | CA1618398867 | ZFP57 | c.1359G= (p.Glu453=) c.1143G= (p.Glu381=) c.1107G= (p.Glu369=) c.1299G= (p.Glu433=) | |
| 6 | g.29672752C>G | CA363043382 | ZFP57 | c.1359G>C (p.Glu453Asp) c.1143G>C (p.Glu381Asp) c.1107G>C (p.Glu369Asp) c.1299G>C (p.Glu433Asp) | |
| 6 | g.29672752C>T | CA3690688 | ZFP57 | c.1359G>A (p.Glu453=) c.1143G>A (p.Glu381=) c.1107G>A (p.Glu369=) c.1299G>A (p.Glu433=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.29672753T>A | CA363043384 | ZFP57 | c.1358A>T (p.Glu453Val) c.1142A>T (p.Glu381Val) c.1106A>T (p.Glu369Val) c.1298A>T (p.Glu433Val) | |
| 6 | g.29672753T>C | CA363043385 | ZFP57 | c.1358A>G (p.Glu453Gly) c.1142A>G (p.Glu381Gly) c.1106A>G (p.Glu369Gly) c.1298A>G (p.Glu433Gly) | |
| 6 | g.29672753T>G | CA3690689 | ZFP57 | c.1358A>C (p.Glu453Ala) c.1142A>C (p.Glu381Ala) c.1106A>C (p.Glu369Ala) c.1298A>C (p.Glu433Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.29672753T= | CA1618398868 | ZFP57 | c.1358A= (p.Glu453=) c.1142A= (p.Glu381=) c.1106A= (p.Glu369=) c.1298A= (p.Glu433=) | |
| 6 | g.29672754C>A | CA363043386 | ZFP57 | c.1357G>T (p.Glu453Ter) c.1141G>T (p.Glu381Ter) c.1105G>T (p.Glu369Ter) c.1297G>T (p.Glu433Ter) | |
| 6 | g.29672754C>G | CA363043387 | ZFP57 | c.1357G>C (p.Glu453Gln) c.1141G>C (p.Glu381Gln) c.1105G>C (p.Glu369Gln) c.1297G>C (p.Glu433Gln) | gnomAD v4 |
| 6 | g.29672754C>T | CA363043388 | ZFP57 | c.1357G>A (p.Glu453Lys) c.1141G>A (p.Glu381Lys) c.1105G>A (p.Glu369Lys) c.1297G>A (p.Glu433Lys) | |
| 6 | g.29672755T>A | CA363043389 | ZFP57 | c.1356A>T (p.Lys452Asn) c.1140A>T (p.Lys380Asn) c.1104A>T (p.Lys368Asn) c.1296A>T (p.Lys432Asn) | |
| 6 | g.29672755T>C | CA449458336 | ZFP57 | c.1356A>G (p.Lys452=) c.1140A>G (p.Lys380=) c.1104A>G (p.Lys368=) c.1296A>G (p.Lys432=) | |
| 6 | g.29672755T>G | CA363043390 | ZFP57 | c.1356A>C (p.Lys452Asn) c.1140A>C (p.Lys380Asn) c.1104A>C (p.Lys368Asn) c.1296A>C (p.Lys432Asn) | |
| 6 | g.29672756T>A | CA363043391 | ZFP57 | c.1355A>T (p.Lys452Ile) c.1139A>T (p.Lys380Ile) c.1103A>T (p.Lys368Ile) c.1295A>T (p.Lys432Ile) | |
| 6 | g.29672756T>C | CA363043392 | ZFP57 | c.1355A>G (p.Lys452Arg) c.1139A>G (p.Lys380Arg) c.1103A>G (p.Lys368Arg) c.1295A>G (p.Lys432Arg) | |
| 6 | g.29672756T>G | CA363043393 | ZFP57 | c.1355A>C (p.Lys452Thr) c.1139A>C (p.Lys380Thr) c.1103A>C (p.Lys368Thr) c.1295A>C (p.Lys432Thr) | |
| 6 | g.29672757T>A | CA363043396 | ZFP57 | c.1354A>T (p.Lys452Ter) c.1138A>T (p.Lys380Ter) c.1102A>T (p.Lys368Ter) c.1294A>T (p.Lys432Ter) | |
| 6 | g.29672757T>C | CA363043394 | ZFP57 | c.1354A>G (p.Lys452Glu) c.1138A>G (p.Lys380Glu) c.1102A>G (p.Lys368Glu) c.1294A>G (p.Lys432Glu) | gnomAD v4 |
| 6 | g.29672757T>G | CA363043395 | ZFP57 | c.1354A>C (p.Lys452Gln) c.1138A>C (p.Lys380Gln) c.1102A>C (p.Lys368Gln) c.1294A>C (p.Lys432Gln) | |
| 6 | g.29672758C>A | CA363043397 | ZFP57 | c.1353G>T (p.Glu451Asp) c.1137G>T (p.Glu379Asp) c.1101G>T (p.Glu367Asp) c.1293G>T (p.Glu431Asp) | |
| 6 | g.29672758C>G | CA363043398 | ZFP57 | c.1353G>C (p.Glu451Asp) c.1137G>C (p.Glu379Asp) c.1101G>C (p.Glu367Asp) c.1293G>C (p.Glu431Asp) | |
| 6 | g.29672758C>T | CA449458337 | ZFP57 | c.1353G>A (p.Glu451=) c.1137G>A (p.Glu379=) c.1101G>A (p.Glu367=) c.1293G>A (p.Glu431=) | gnomAD v4 |
| 6 | g.29672759T>A | CA363043399 | ZFP57 | c.1352A>T (p.Glu451Val) c.1136A>T (p.Glu379Val) c.1100A>T (p.Glu367Val) c.1292A>T (p.Glu431Val) | |
| 6 | g.29672759T>C | CA363043400 | ZFP57 | c.1352A>G (p.Glu451Gly) c.1136A>G (p.Glu379Gly) c.1100A>G (p.Glu367Gly) c.1292A>G (p.Glu431Gly) | |
| 6 | g.29672759T>G | CA363043401 | ZFP57 | c.1352A>C (p.Glu451Ala) c.1136A>C (p.Glu379Ala) c.1100A>C (p.Glu367Ala) c.1292A>C (p.Glu431Ala) | |
| 6 | g.29672760C>A | CA363043402 | ZFP57 | c.1351G>T (p.Glu451Ter) c.1135G>T (p.Glu379Ter) c.1099G>T (p.Glu367Ter) c.1291G>T (p.Glu431Ter) | |
| 6 | g.29672760C>G | CA363043403 | ZFP57 | c.1351G>C (p.Glu451Gln) c.1135G>C (p.Glu379Gln) c.1099G>C (p.Glu367Gln) c.1291G>C (p.Glu431Gln) | |
| 6 | g.29672760C>T | CA363043404 | ZFP57 | c.1351G>A (p.Glu451Lys) c.1135G>A (p.Glu379Lys) c.1099G>A (p.Glu367Lys) c.1291G>A (p.Glu431Lys) | |
| 6 | g.29672761C>A | CA449458338 | ZFP57 | c.1350G>T (p.Gly450=) c.1134G>T (p.Gly378=) c.1098G>T (p.Gly366=) c.1290G>T (p.Gly430=) | |
| 6 | g.29672761C>G | CA449458339 | ZFP57 | c.1350G>C (p.Gly450=) c.1134G>C (p.Gly378=) c.1098G>C (p.Gly366=) c.1290G>C (p.Gly430=) | |
| 6 | g.29672761C>T | CA449458340 | ZFP57 | c.1350G>A (p.Gly450=) c.1134G>A (p.Gly378=) c.1098G>A (p.Gly366=) c.1290G>A (p.Gly430=) | |
| 6 | g.29672762C>A | CA363043405 | ZFP57 | c.1349G>T (p.Gly450Val) c.1133G>T (p.Gly378Val) c.1097G>T (p.Gly366Val) c.1289G>T (p.Gly430Val) | |
| 6 | g.29672762C= | CA1618398869 | ZFP57 | c.1349G= (p.Gly450=) c.1133G= (p.Gly378=) c.1097G= (p.Gly366=) c.1289G= (p.Gly430=) | |
| 6 | g.29672762C>G | CA3690690 | ZFP57 | c.1349G>C (p.Gly450Ala) c.1133G>C (p.Gly378Ala) c.1097G>C (p.Gly366Ala) c.1289G>C (p.Gly430Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.29672762C>T | CA363043406 | ZFP57 | c.1349G>A (p.Gly450Glu) c.1133G>A (p.Gly378Glu) c.1097G>A (p.Gly366Glu) c.1289G>A (p.Gly430Glu) | |
| 6 | g.29672763C>A | CA363043409 | ZFP57 | c.1348G>T (p.Gly450Trp) c.1132G>T (p.Gly378Trp) c.1096G>T (p.Gly366Trp) c.1288G>T (p.Gly430Trp) | gnomAD v4 |
| 6 | g.29672763C>G | CA363043408 | ZFP57 | c.1348G>C (p.Gly450Arg) c.1132G>C (p.Gly378Arg) c.1096G>C (p.Gly366Arg) c.1288G>C (p.Gly430Arg) | |
| 6 | g.29672763C>T | CA363043407 | ZFP57 | c.1348G>A (p.Gly450Arg) c.1132G>A (p.Gly378Arg) c.1096G>A (p.Gly366Arg) c.1288G>A (p.Gly430Arg) | |
| 6 | g.29672764A>C | CA363043410 | ZFP57 | c.1347T>G (p.Phe449Leu) c.1131T>G (p.Phe377Leu) c.1095T>G (p.Phe365Leu) c.1287T>G (p.Phe429Leu) | |
| 6 | g.29672764A>G | CA449458341 | ZFP57 | c.1347T>C (p.Phe449=) c.1131T>C (p.Phe377=) c.1095T>C (p.Phe365=) c.1287T>C (p.Phe429=) | |
| 6 | g.29672764A>T | CA363043411 | ZFP57 | c.1347T>A (p.Phe449Leu) c.1131T>A (p.Phe377Leu) c.1095T>A (p.Phe365Leu) c.1287T>A (p.Phe429Leu) | |
| 6 | g.29672765A>C | CA363043412 | ZFP57 | c.1346T>G (p.Phe449Cys) c.1130T>G (p.Phe377Cys) c.1094T>G (p.Phe365Cys) c.1286T>G (p.Phe429Cys) | |
| 6 | g.29672765A>G | CA363043413 | ZFP57 | c.1346T>C (p.Phe449Ser) c.1130T>C (p.Phe377Ser) c.1094T>C (p.Phe365Ser) c.1286T>C (p.Phe429Ser) | gnomAD v4 |
| 6 | g.29672765A>T | CA363043414 | ZFP57 | c.1346T>A (p.Phe449Tyr) c.1130T>A (p.Phe377Tyr) c.1094T>A (p.Phe365Tyr) c.1286T>A (p.Phe429Tyr) | |
| 6 | g.29672766A>C | CA363043417 | ZFP57 | c.1345T>G (p.Phe449Val) c.1129T>G (p.Phe377Val) c.1093T>G (p.Phe365Val) c.1285T>G (p.Phe429Val) | |
| 6 | g.29672766A>G | CA363043416 | ZFP57 | c.1345T>C (p.Phe449Leu) c.1129T>C (p.Phe377Leu) c.1093T>C (p.Phe365Leu) c.1285T>C (p.Phe429Leu) | |
| 6 | g.29672766A>T | CA363043415 | ZFP57 | c.1345T>A (p.Phe449Ile) c.1129T>A (p.Phe377Ile) c.1093T>A (p.Phe365Ile) c.1285T>A (p.Phe429Ile) | |
| 6 | g.29672767G>A | CA449458342 | ZFP57 | c.1344C>T (p.Ser448=) c.1128C>T (p.Ser376=) c.1092C>T (p.Ser364=) c.1284C>T (p.Ser428=) | gnomAD v4 |
| 6 | g.29672767G>C | CA449458343 | ZFP57 | c.1344C>G (p.Ser448=) c.1128C>G (p.Ser376=) c.1092C>G (p.Ser364=) c.1284C>G (p.Ser428=) |