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.74636374C>A | CA396761429 | RFWD3 | c.1398G>T (p.Gln466His) c.564G>T (p.Gln188His) | |
| 16 | g.74636374C>G | CA396761431 | RFWD3 | c.1398G>C (p.Gln466His) c.564G>C (p.Gln188His) | gnomAD v4 |
| 16 | g.74636374C>T | CA496542413 | RFWD3 | c.1398G>A (p.Gln466=) c.564G>A (p.Gln188=) | |
| 16 | g.74636375T>A | CA396761433 | RFWD3 | c.1397A>T (p.Gln466Leu) c.563A>T (p.Gln188Leu) | |
| 16 | g.74636375T>C | CA396761437 | RFWD3 | c.1397A>G (p.Gln466Arg) c.563A>G (p.Gln188Arg) | |
| 16 | g.74636375T>G | CA396761435 | RFWD3 | c.1397A>C (p.Gln466Pro) c.563A>C (p.Gln188Pro) | |
| 16 | g.74636376G>A | CA396761440 | RFWD3 | c.1396C>T (p.Gln466Ter) c.562C>T (p.Gln188Ter) | |
| 16 | g.74636376G>C | CA396761442 | RFWD3 | c.1396C>G (p.Gln466Glu) c.562C>G (p.Gln188Glu) | |
| 16 | g.74636376G>T | CA396761444 | RFWD3 | c.1396C>A (p.Gln466Lys) c.562C>A (p.Gln188Lys) | |
| 16 | g.74636377T>A | CA496542429 | RFWD3 | c.1395A>T (p.Ser465=) c.561A>T (p.Ser187=) | |
| 16 | g.74636377T>C | CA496542425 | RFWD3 | c.1395A>G (p.Ser465=) c.561A>G (p.Ser187=) | |
| 16 | g.74636377T>G | CA496542426 | RFWD3 | c.1395A>C (p.Ser465=) c.561A>C (p.Ser187=) | gnomAD v4 |
| 16 | g.74636378G>A | CA396761446 | RFWD3 | c.1394C>T (p.Ser465Leu) c.560C>T (p.Ser187Leu) | |
| 16 | g.74636378G>C | CA396761449 | RFWD3 | c.1394C>G (p.Ser465Ter) c.560C>G (p.Ser187Ter) | |
| 16 | g.74636378G>T | CA396761450 | RFWD3 | c.1394C>A (p.Ser465Ter) c.560C>A (p.Ser187Ter) | |
| 16 | g.74636379A= | CA2232905917 | RFWD3 | c.1393T= (p.Ser465=) c.559T= (p.Ser187=) | |
| 16 | g.74636379A>C | CA396761453 | RFWD3 | c.1393T>G (p.Ser465Ala) c.559T>G (p.Ser187Ala) | |
| 16 | g.74636379A>G | CA396761455 | RFWD3 | c.1393T>C (p.Ser465Pro) c.559T>C (p.Ser187Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636379A>T | CA396761457 | RFWD3 | c.1393T>A (p.Ser465Thr) c.559T>A (p.Ser187Thr) | gnomAD v4 |
| 16 | g.74636380T>A | CA496542439 | RFWD3 | c.1392A>T (p.Ile464=) c.558A>T (p.Ile186=) | |
| 16 | g.74636380T>C | CA396761459 | RFWD3 | c.1392A>G (p.Ile464Met) c.558A>G (p.Ile186Met) | |
| 16 | g.74636380T>G | CA496542441 | RFWD3 | c.1392A>C (p.Ile464=) c.558A>C (p.Ile186=) | |
| 16 | g.74636381A>C | CA396761461 | RFWD3 | c.1391T>G (p.Ile464Arg) c.557T>G (p.Ile186Arg) | |
| 16 | g.74636381A>G | CA396761463 | RFWD3 | c.1391T>C (p.Ile464Thr) c.557T>C (p.Ile186Thr) | gnomAD v4 |
| 16 | g.74636381A>T | CA396761465 | RFWD3 | c.1391T>A (p.Ile464Lys) c.557T>A (p.Ile186Lys) | |
| 16 | g.74636382T>A | CA396761470 | RFWD3 | c.1390A>T (p.Ile464Leu) c.556A>T (p.Ile186Leu) | |
| 16 | g.74636382T>C | CA283745759 | RFWD3 | c.1390A>G (p.Ile464Val) c.556A>G (p.Ile186Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74636382T>G | CA396761467 | RFWD3 | c.1390A>C (p.Ile464Leu) c.556A>C (p.Ile186Leu) | |
| 16 | g.74636382T= | CA2232905918 | RFWD3 | c.1390A= (p.Ile464=) c.556A= (p.Ile186=) | |
| 16 | g.74636383C>A | CA496542451 | RFWD3 | c.1389G>T (p.Val463=) c.555G>T (p.Val185=) | |
| 16 | g.74636383C>G | CA496542452 | RFWD3 | c.1389G>C (p.Val463=) c.555G>C (p.Val185=) | |
| 16 | g.74636383C>T | CA496542454 | RFWD3 | c.1389G>A (p.Val463=) c.555G>A (p.Val185=) | |
| 16 | g.74636384A= | CA2232905919 | RFWD3 | c.1388T= (p.Val463=) c.554T= (p.Val185=) | |
| 16 | g.74636384A>C | CA396761473 | RFWD3 | c.1388T>G (p.Val463Gly) c.554T>G (p.Val185Gly) | |
| 16 | g.74636384A>G | CA396761475 | RFWD3 | c.1388T>C (p.Val463Ala) c.554T>C (p.Val185Ala) | |
| 16 | g.74636384A>T | CA396761477 | RFWD3 | c.1388T>A (p.Val463Glu) c.554T>A (p.Val185Glu) | dbSNP |
| 16 | g.74636385C>A | CA396761479 | RFWD3 | c.1387G>T (p.Val463Leu) c.553G>T (p.Val185Leu) | |
| 16 | g.74636385C= | CA2232905920 | RFWD3 | c.1387G= (p.Val463=) c.553G= (p.Val185=) | |
| 16 | g.74636385C>G | CA396761481 | RFWD3 | c.1387G>C (p.Val463Leu) c.553G>C (p.Val185Leu) | |
| 16 | g.74636385C>T | CA396761483 | RFWD3 | c.1387G>A (p.Val463Met) c.553G>A (p.Val185Met) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74636386C>A | CA496542463 | RFWD3 | c.1386G>T (p.Leu462=) c.552G>T (p.Leu184=) | |
| 16 | g.74636386C>G | CA496542464 | RFWD3 | c.1386G>C (p.Leu462=) c.552G>C (p.Leu184=) | |
| 16 | g.74636386C>T | CA496542465 | RFWD3 | c.1386G>A (p.Leu462=) c.552G>A (p.Leu184=) | |
| 16 | g.74636387A>C | CA396761486 | RFWD3 | c.1385T>G (p.Leu462Arg) c.551T>G (p.Leu184Arg) | gnomAD v4 |
| 16 | g.74636387A>G | CA396761487 | RFWD3 | c.1385T>C (p.Leu462Pro) c.551T>C (p.Leu184Pro) | |
| 16 | g.74636387A>T | CA396761488 | RFWD3 | c.1385T>A (p.Leu462Gln) c.551T>A (p.Leu184Gln) | |
| 16 | g.74636388G>A | CA496542473 | RFWD3 | c.1384C>T (p.Leu462=) c.550C>T (p.Leu184=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.74636388G>C | CA396761489 | RFWD3 | c.1384C>G (p.Leu462Val) c.550C>G (p.Leu184Val) | |
| 16 | g.74636388G= | CA2232905921 | RFWD3 | c.1384C= (p.Leu462=) c.550C= (p.Leu184=) | |
| 16 | g.74636388G>T | CA396761491 | RFWD3 | c.1384C>A (p.Leu462Met) c.550C>A (p.Leu184Met) |