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 |
|---|---|---|---|---|---|
| 2 | g.38071072T>A | CA346327480 | CYP1B1 | c.1282A>T (p.Asn428Tyr) n.660A>T c.169A>T (p.Asn57Tyr) | |
| 2 | g.38071072T>C | CA346327481 | CYP1B1 | c.1282A>G (p.Asn428Asp) n.660A>G c.169A>G (p.Asn57Asp) | gnomAD v4 |
| 2 | g.38071072T>G | CA346327482 | CYP1B1 | c.1282A>C (p.Asn428His) n.660A>C c.169A>C (p.Asn57His) | |
| 2 | g.38071073C>A | CA425864509 | CYP1B1 | c.1281G>T (p.Val427=) n.659G>T c.168G>T (p.Val56=) | |
| 2 | g.38071073C>G | CA425864505 | CYP1B1 | c.1281G>C (p.Val427=) n.659G>C c.168G>C (p.Val56=) | |
| 2 | g.38071073C>T | CA425864507 | CYP1B1 | c.1281G>A (p.Val427=) n.659G>A c.168G>A (p.Val56=) | |
| 2 | g.38071074A>C | CA346327483 | CYP1B1 | c.1280T>G (p.Val427Gly) n.658T>G c.167T>G (p.Val56Gly) | |
| 2 | g.38071074A>G | CA346327484 | CYP1B1 | c.1280T>C (p.Val427Ala) n.658T>C c.167T>C (p.Val56Ala) | |
| 2 | g.38071074A>T | CA346327485 | CYP1B1 | c.1280T>A (p.Val427Glu) n.658T>A c.167T>A (p.Val56Glu) | |
| 2 | g.38071075C>A | CA346327486 | CYP1B1 | c.1279G>T (p.Val427Leu) n.657G>T c.166G>T (p.Val56Leu) | |
| 2 | g.38071075C>G | CA346327487 | CYP1B1 | c.1279G>C (p.Val427Leu) n.657G>C c.166G>C (p.Val56Leu) | dbSNP |
| 2 | g.38071075C>T | CA346327488 | CYP1B1 | c.1279G>A (p.Val427Met) n.657G>A c.166G>A (p.Val56Met) | dbSNP |
| 2 | g.38071076A= | CA1245626108 | CYP1B1 | c.1278T= (p.Ser426=) n.656T= c.165T= (p.Ser55=) | |
| 2 | g.38071076A>C | CA45506328 | CYP1B1 | c.1278T>G (p.Ser426=) n.656T>G c.165T>G (p.Ser55=) | ClinVar dbSNP |
| 2 | g.38071076A>G | CA425864511 | CYP1B1 | c.1278T>C (p.Ser426=) n.656T>C c.165T>C (p.Ser55=) | |
| 2 | g.38071076A>T | CA425864510 | CYP1B1 | c.1278T>A (p.Ser426=) n.656T>A c.165T>A (p.Ser55=) | |
| 2 | g.38071077G>A | CA346327489 | CYP1B1 | c.1277C>T (p.Ser426Phe) n.655C>T c.164C>T (p.Ser55Phe) | |
| 2 | g.38071077G>C | CA346327490 | CYP1B1 | c.1277C>G (p.Ser426Cys) n.655C>G c.164C>G (p.Ser55Cys) | |
| 2 | g.38071077G>T | CA346327491 | CYP1B1 | c.1277C>A (p.Ser426Tyr) n.655C>A c.164C>A (p.Ser55Tyr) | |
| 2 | g.38071078A>C | CA346327494 | CYP1B1 | c.1276T>G (p.Ser426Ala) n.654T>G c.163T>G (p.Ser55Ala) | |
| 2 | g.38071078A>G | CA346327493 | CYP1B1 | c.1276T>C (p.Ser426Pro) n.654T>C c.163T>C (p.Ser55Pro) | |
| 2 | g.38071078A>T | CA346327492 | CYP1B1 | c.1276T>A (p.Ser426Thr) n.654T>A c.163T>A (p.Ser55Thr) | |
| 2 | g.38071079C>A | CA346327495 | CYP1B1 | c.1275G>T (p.Trp425Cys) n.653G>T c.162G>T (p.Trp54Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.38071079C= | CA1245626109 | CYP1B1 | c.1275G= (p.Trp425=) n.653G= c.162G= (p.Trp54=) | |
| 2 | g.38071079C>G | CA346327496 | CYP1B1 | c.1275G>C (p.Trp425Cys) n.653G>C c.162G>C (p.Trp54Cys) | gnomAD v4 |
| 2 | g.38071079C>T | CA346327497 | CYP1B1 | c.1275G>A (p.Trp425Ter) n.653G>A c.162G>A (p.Trp54Ter) | |
| 2 | g.38071080dup | CA2586969063 | CYP1B1 | c.1275dup (p.Ser426ValfsTer5) n.653dup c.162dup (p.Ser55ValfsTer5) | |
| 2 | g.38071080C>A | CA346327498 | CYP1B1 | c.1274G>T (p.Trp425Leu) n.652G>T c.161G>T (p.Trp54Leu) | |
| 2 | g.38071080C>G | CA346327499 | CYP1B1 | c.1274G>C (p.Trp425Ser) n.652G>C c.161G>C (p.Trp54Ser) | |
| 2 | g.38071080C>T | CA346327500 | CYP1B1 | c.1274G>A (p.Trp425Ter) n.652G>A c.161G>A (p.Trp54Ter) | |
| 2 | g.38071081A= | CA1245626110 | CYP1B1 | c.1273T= (p.Trp425=) n.651T= c.160T= (p.Trp54=) | |
| 2 | g.38071081A>C | CA346327503 | CYP1B1 | c.1273T>G (p.Trp425Gly) n.651T>G c.160T>G (p.Trp54Gly) | |
| 2 | g.38071081A>G | CA346327501 | CYP1B1 | c.1273T>C (p.Trp425Arg) n.651T>C c.160T>C (p.Trp54Arg) | dbSNP |
| 2 | g.38071081A>T | CA346327502 | CYP1B1 | c.1273T>A (p.Trp425Arg) n.651T>A c.160T>A (p.Trp54Arg) | |
| 2 | g.38071082C>A | CA346327504 | CYP1B1 | c.1272G>T (p.Gln424His) n.650G>T c.159G>T (p.Gln53His) | gnomAD v4 |
| 2 | g.38071082C>G | CA346327505 | CYP1B1 | c.1272G>C (p.Gln424His) n.650G>C c.159G>C (p.Gln53His) | |
| 2 | g.38071082C>T | CA425864513 | CYP1B1 | c.1272G>A (p.Gln424=) n.650G>A c.159G>A (p.Gln53=) | gnomAD v4 |
| 2 | g.38071083T>A | CA346327506 | CYP1B1 | c.1271A>T (p.Gln424Leu) n.649A>T c.158A>T (p.Gln53Leu) | |
| 2 | g.38071083T>C | CA1619825 | CYP1B1 | c.1271A>G (p.Gln424Arg) n.649A>G c.158A>G (p.Gln53Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.38071083T>G | CA346327507 | CYP1B1 | c.1271A>C (p.Gln424Pro) n.649A>C c.158A>C (p.Gln53Pro) | |
| 2 | g.38071083T= | CA1245626111 | CYP1B1 | c.1271A= (p.Gln424=) n.649A= c.158A= (p.Gln53=) | |
| 2 | g.38071084G>A | CA1619826 | CYP1B1 | c.1270C>T (p.Gln424Ter) n.648C>T c.157C>T (p.Gln53Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.38071084G>C | CA346327509 | CYP1B1 | c.1270C>G (p.Gln424Glu) n.648C>G c.157C>G (p.Gln53Glu) | |
| 2 | g.38071084G= | CA1245626112 | CYP1B1 | c.1270C= (p.Gln424=) n.648C= c.157C= (p.Gln53=) | |
| 2 | g.38071084G>T | CA346327508 | CYP1B1 | c.1270C>A (p.Gln424Lys) n.648C>A c.157C>A (p.Gln53Lys) | |
| 2 | g.38071085G>A | CA425864516 | CYP1B1 | c.1269C>T (p.Asn423=) n.647C>T c.156C>T (p.Asn52=) | |
| 2 | g.38071085G>C | CA346327510 | CYP1B1 | c.1269C>G (p.Asn423Lys) n.647C>G c.156C>G (p.Asn52Lys) | |
| 2 | g.38071085G= | CA1245626113 | CYP1B1 | c.1269C= (p.Asn423=) n.647C= c.156C= (p.Asn52=) | |
| 2 | g.38071085G>T | CA346327511 | CYP1B1 | c.1269C>A (p.Asn423Lys) n.647C>A c.156C>A (p.Asn52Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.38071086T>A | CA1619827 | CYP1B1 | c.1268A>T (p.Asn423Ile) n.646A>T c.155A>T (p.Asn52Ile) | dbSNP ExAC gnomAD v2 |