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 |
|---|---|---|---|---|---|
| 13 | g.48381248_48381444del | CA645578673 | RB1 | c.1500_1695+1del c.1239_1434+1del | COSMIC |
| 13 | g.48381302_48381309del | CA2697551855 | RB1 | c.1554_1561del (p.Asn519Ter) c.53_60del c.1293_1300del (p.Asn432Ter) | ClinVar |
| 13 | g.48381306G>A | CA388163512 | RB1 | c.1558G>A (p.Val520Met) c.57G>A c.1297G>A (p.Val433Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.48381306G>C | CA388163513 | RB1 | c.1558G>C (p.Val520Leu) c.57G>C c.1297G>C (p.Val433Leu) | ClinVar dbSNP |
| 13 | g.48381306G= | CA2089972400 | RB1 | c.1558G= (p.Val520=) c.57G= c.1297G= (p.Val433=) | |
| 13 | g.48381306G>T | CA388163514 | RB1 | c.1558G>T (p.Val520Leu) c.57G>T c.1297G>T (p.Val433Leu) | |
| 13 | g.48381307T>A | CA388163516 | RB1 | c.1559T>A (p.Val520Glu) c.58T>A c.1298T>A (p.Val433Glu) | dbSNP |
| 13 | g.48381307T>C | CA388163519 | RB1 | c.1559T>C (p.Val520Ala) c.58T>C c.1298T>C (p.Val433Ala) | |
| 13 | g.48381307T>G | CA388163518 | RB1 | c.1559T>G (p.Val520Gly) c.58T>G c.1298T>G (p.Val433Gly) | dbSNP gnomAD v4 |
| 13 | g.48381308G>A | CA483559448 | RB1 | c.1560G>A (p.Val520=) c.59G>A c.1299G>A (p.Val433=) | dbSNP |
| 13 | g.48381308G>C | CA483559449 | RB1 | c.1560G>C (p.Val520=) c.59G>C c.1299G>C (p.Val433=) | dbSNP |
| 13 | g.48381308G>T | CA483559450 | RB1 | c.1560G>T (p.Val520=) c.59G>T c.1299G>T (p.Val433=) | dbSNP |
| 13 | g.48381309C>A | CA388163522 | RB1 | c.1561C>A (p.Leu521Ile) c.60C>A c.1300C>A (p.Leu434Ile) | dbSNP |
| 13 | g.48381309C>G | CA388163523 | RB1 | c.1561C>G (p.Leu521Val) c.60C>G c.1300C>G (p.Leu434Val) | ClinVar dbSNP |
| 13 | g.48381309C>T | CA388163525 | RB1 | c.1561C>T (p.Leu521Phe) c.60C>T c.1300C>T (p.Leu434Phe) | dbSNP |
| 13 | g.48381310T>A | CA388163527 | RB1 | c.1562T>A (p.Leu521His) c.61T>A c.1301T>A (p.Leu434His) | ClinVar dbSNP |
| 13 | g.48381310T>C | CA388163529 | RB1 | c.1562T>C (p.Leu521Pro) c.61T>C c.1301T>C (p.Leu434Pro) | dbSNP |
| 13 | g.48381310T>G | CA388163530 | RB1 | c.1562T>G (p.Leu521Arg) c.61T>G c.1301T>G (p.Leu434Arg) | |
| 13 | g.48381311T>A | CA483559453 | RB1 | c.1563T>A (p.Leu521=) c.62T>A c.1302T>A (p.Leu434=) | ClinVar dbSNP |
| 13 | g.48381311T>C | CA483559454 | RB1 | c.1563T>C (p.Leu521=) c.62T>C c.1302T>C (p.Leu434=) | |
| 13 | g.48381311T>G | CA483559456 | RB1 | c.1563T>G (p.Leu521=) c.62T>G c.1302T>G (p.Leu434=) | |
| 13 | g.48381312A>C | CA388163532 | RB1 | c.1564A>C (p.Asn522His) c.63A>C c.1303A>C (p.Asn435His) | ClinVar |
| 13 | g.48381312A>G | CA388163534 | RB1 | c.1564A>G (p.Asn522Asp) c.63A>G c.1303A>G (p.Asn435Asp) | ClinVar dbSNP |
| 13 | g.48381312A>T | CA388163536 | RB1 | c.1564A>T (p.Asn522Tyr) c.63A>T c.1303A>T (p.Asn435Tyr) | dbSNP |
| 13 | g.48381313A= | CA2089972404 | RB1 | c.1565A= (p.Asn522=) c.64A= c.1304A= (p.Asn435=) | |
| 13 | g.48381313A>C | CA388163538 | RB1 | c.1565A>C (p.Asn522Thr) c.64A>C c.1304A>C (p.Asn435Thr) | |
| 13 | g.48381313A>G | CA388163540 | RB1 | c.1565A>G (p.Asn522Ser) c.64A>G c.1304A>G (p.Asn435Ser) | |
| 13 | g.48381313A>T | CA388163541 | RB1 | c.1565A>T (p.Asn522Ile) c.64A>T c.1304A>T (p.Asn435Ile) | |
| 13 | g.48381314T>A | CA388163544 | RB1 | c.1566T>A (p.Asn522Lys) c.65T>A c.1305T>A (p.Asn435Lys) | dbSNP |
| 13 | g.48381314T>C | CA483559459 | RB1 | c.1566T>C (p.Asn522=) c.65T>C c.1305T>C (p.Asn435=) | |
| 13 | g.48381314T>G | CA388163543 | RB1 | c.1566T>G (p.Asn522Lys) c.65T>G c.1305T>G (p.Asn435Lys) | |
| 13 | g.48381315_48381316dup | CA916081694 | RB1 | c.1567_1568dup (p.Leu523PhefsTer2) c.66_67dup c.1306_1307dup (p.Leu436PhefsTer2) | ClinVar dbSNP |
| 13 | g.48381315T>A | CA388163545 | RB1 | c.1567T>A (p.Leu523Ile) c.66T>A c.1306T>A (p.Leu436Ile) | |
| 13 | g.48381315T>C | CA483559461 | RB1 | c.1567T>C (p.Leu523=) c.66T>C c.1306T>C (p.Leu436=) | |
| 13 | g.48381315T>G | CA388163547 | RB1 | c.1567T>G (p.Leu523Val) c.66T>G c.1306T>G (p.Leu436Val) | |
| 13 | g.48381316T>A | CA388163549 | RB1 | c.1568T>A (p.Leu523Ter) c.67T>A c.1307T>A (p.Leu436Ter) | ClinVar dbSNP |
| 13 | g.48381316T>C | CA388163551 | RB1 | c.1568T>C (p.Leu523Ser) c.67T>C c.1307T>C (p.Leu436Ser) | |
| 13 | g.48381316T>G | CA388163553 | RB1 | c.1568T>G (p.Leu523Ter) c.67T>G c.1307T>G (p.Leu436Ter) | ClinVar |
| 13 | g.48381316_48381319dup | CA2695218497 | RB1 | c.1568_1571dup (p.Lys524AsnfsTer5) c.67_70dup c.1307_1310dup (p.Lys437AsnfsTer5) | |
| 13 | g.48381317A>C | CA388163555 | RB1 | c.1569A>C (p.Leu523Phe) c.68A>C c.1308A>C (p.Leu436Phe) | |
| 13 | g.48381317A>G | CA483559463 | RB1 | c.1569A>G (p.Leu523=) c.68A>G c.1308A>G (p.Leu436=) | |
| 13 | g.48381317A>T | CA388163556 | RB1 | c.1569A>T (p.Leu523Phe) c.68A>T c.1308A>T (p.Leu436Phe) | dbSNP |
| 13 | g.48381320dup | CA2580087605 | RB1 | c.1572dup (p.Ala525SerfsTer3) c.71dup c.1311dup (p.Ala438SerfsTer3) | ClinVar |
| 13 | g.48381319_48381320dup | CA2695218498 | RB1 | c.1571_1572dup (p.Ala525LysfsTer8) c.70_71dup c.1310_1311dup (p.Ala438LysfsTer8) | |
| 13 | g.48381320del | CA2499222454 | RB1 | c.1572del (p.Ala525ProfsTer7) c.71del c.1311del (p.Ala438ProfsTer7) | ClinVar dbSNP |
| 13 | g.48381318A>C | CA388163559 | RB1 | c.1570A>C (p.Lys524Gln) c.69A>C c.1309A>C (p.Lys437Gln) | dbSNP |
| 13 | g.48381318A>G | CA388163561 | RB1 | c.1570A>G (p.Lys524Glu) c.69A>G c.1309A>G (p.Lys437Glu) | |
| 13 | g.48381318A>T | CA388163562 | RB1 | c.1570A>T (p.Lys524Ter) c.69A>T c.1309A>T (p.Lys437Ter) | dbSNP |
| 13 | g.48381319A>C | CA388163565 | RB1 | c.1571A>C (p.Lys524Thr) c.70A>C c.1310A>C (p.Lys437Thr) | |
| 13 | g.48381319A>G | CA388163567 | RB1 | c.1571A>G (p.Lys524Arg) c.70A>G c.1310A>G (p.Lys437Arg) |