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 |
|---|---|---|---|---|---|
| 11 | g.47330388_47335387del | CA2740090117 | |||
| 11 | g.47332192T>A | CA014642 | MYBPC3 | c.3694A>T (p.Lys1232Ter) c.3676A>T (p.Lys1226Ter) c.3613A>T (p.Lys1205Ter) | ClinVar dbSNP |
| 11 | g.47332192T>C | CA380311360 | MYBPC3 | c.3694A>G (p.Lys1232Glu) c.3676A>G (p.Lys1226Glu) c.3613A>G (p.Lys1205Glu) | |
| 11 | g.47332192T>G | CA380311365 | MYBPC3 | c.3694A>C (p.Lys1232Gln) c.3676A>C (p.Lys1226Gln) c.3613A>C (p.Lys1205Gln) | gnomAD v4 |
| 11 | g.47332192T= | CA1969333471 | MYBPC3 | c.3694A= (p.Lys1232=) c.3676A= (p.Lys1226=) c.3613A= (p.Lys1205=) | |
| 11 | g.47332193G>A | CA474428875 | MYBPC3 | c.3693C>T (p.Ser1231=) c.3675C>T (p.Ser1225=) c.3612C>T (p.Ser1204=) | |
| 11 | g.47332193G>C | CA380311369 | MYBPC3 | c.3693C>G (p.Ser1231Arg) c.3675C>G (p.Ser1225Arg) c.3612C>G (p.Ser1204Arg) | |
| 11 | g.47332193G>T | CA380311374 | MYBPC3 | c.3693C>A (p.Ser1231Arg) c.3675C>A (p.Ser1225Arg) c.3612C>A (p.Ser1204Arg) | |
| 11 | g.47332194C>A | CA380311379 | MYBPC3 | c.3692G>T (p.Ser1231Ile) c.3674G>T (p.Ser1225Ile) c.3611G>T (p.Ser1204Ile) | |
| 11 | g.47332194C= | CA1969333474 | MYBPC3 | c.3692G= (p.Ser1231=) c.3674G= (p.Ser1225=) c.3611G= (p.Ser1204=) | |
| 11 | g.47332194C>G | CA380311382 | MYBPC3 | c.3692G>C (p.Ser1231Thr) c.3674G>C (p.Ser1225Thr) c.3611G>C (p.Ser1204Thr) | dbSNP |
| 11 | g.47332194C>T | CA380311385 | MYBPC3 | c.3692G>A (p.Ser1231Asn) c.3674G>A (p.Ser1225Asn) c.3611G>A (p.Ser1204Asn) | COSMIC COSMIC |
| 11 | g.47332194_47332196delinsCTG | CA1969333475 | MYBPC3 | c.3690_3692delinsCAG (p.Phe1230=) c.3672_3674delinsCAG (p.Phe1224=) c.3609_3611delinsCAG (p.Phe1203=) | |
| 11 | g.47332195T>A | CA380311400 | MYBPC3 | c.3691A>T (p.Ser1231Cys) c.3673A>T (p.Ser1225Cys) c.3610A>T (p.Ser1204Cys) | dbSNP |
| 11 | g.47332195T>C | CA380311390 | MYBPC3 | c.3691A>G (p.Ser1231Gly) c.3673A>G (p.Ser1225Gly) c.3610A>G (p.Ser1204Gly) | |
| 11 | g.47332195T>G | CA380311396 | MYBPC3 | c.3691A>C (p.Ser1231Arg) c.3673A>C (p.Ser1225Arg) c.3610A>C (p.Ser1204Arg) | |
| 11 | g.47332195T= | CA1969333477 | MYBPC3 | c.3691A= (p.Ser1231=) c.3673A= (p.Ser1225=) c.3610A= (p.Ser1204=) | |
| 11 | g.47332195_47332196del | CA014638 | MYBPC3 | c.3690_3691del (p.Phe1230LeufsTer11) c.3672_3673del (p.Phe1224LeufsTer11) c.3609_3610del (p.Phe1203LeufsTer11) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332195_47332198dup | CA2499220958 | MYBPC3 | c.3688_3691dup (p.Ser1231IlefsTer12) c.3670_3673dup (p.Ser1225IlefsTer12) c.3607_3610dup (p.Ser1204IlefsTer12) | ClinVar dbSNP |
| 11 | g.47332196G>A | CA474428876 | MYBPC3 | c.3690C>T (p.Phe1230=) c.3672C>T (p.Phe1224=) c.3609C>T (p.Phe1203=) | |
| 11 | g.47332196G>C | CA380311409 | MYBPC3 | c.3690C>G (p.Phe1230Leu) c.3672C>G (p.Phe1224Leu) c.3609C>G (p.Phe1203Leu) | |
| 11 | g.47332196G>T | CA380311405 | MYBPC3 | c.3690C>A (p.Phe1230Leu) c.3672C>A (p.Phe1224Leu) c.3609C>A (p.Phe1203Leu) | |
| 11 | g.47332197A>C | CA380311416 | MYBPC3 | c.3689T>G (p.Phe1230Cys) c.3671T>G (p.Phe1224Cys) c.3608T>G (p.Phe1203Cys) | |
| 11 | g.47332197A>G | CA380311419 | MYBPC3 | c.3689T>C (p.Phe1230Ser) c.3671T>C (p.Phe1224Ser) c.3608T>C (p.Phe1203Ser) | |
| 11 | g.47332197A>T | CA380311423 | MYBPC3 | c.3689T>A (p.Phe1230Tyr) c.3671T>A (p.Phe1224Tyr) c.3608T>A (p.Phe1203Tyr) | |
| 11 | g.47332198dup | CA2739291459 | MYBPC3 | c.3689dup (p.Ser1231GlnfsTer11) c.3671dup (p.Ser1225GlnfsTer11) c.3608dup (p.Ser1204GlnfsTer11) | |
| 11 | g.47332198del | CA2697548538 | MYBPC3 | c.3689del (p.Phe1230SerfsTer7) c.3671del (p.Phe1224SerfsTer7) c.3608del (p.Phe1203SerfsTer7) | ClinVar |
| 11 | g.47332198A= | CA1969333479 | MYBPC3 | c.3688T= (p.Phe1230=) c.3670T= (p.Phe1224=) c.3607T= (p.Phe1203=) | |
| 11 | g.47332198A>C | CA380311427 | MYBPC3 | c.3688T>G (p.Phe1230Val) c.3670T>G (p.Phe1224Val) c.3607T>G (p.Phe1203Val) | |
| 11 | g.47332198A>G | CA380311430 | MYBPC3 | c.3688T>C (p.Phe1230Leu) c.3670T>C (p.Phe1224Leu) c.3607T>C (p.Phe1203Leu) | ClinVar dbSNP |
| 11 | g.47332198A>T | CA380311434 | MYBPC3 | c.3688T>A (p.Phe1230Ile) c.3670T>A (p.Phe1224Ile) c.3607T>A (p.Phe1203Ile) | |
| 11 | g.47332199C>A | CA380311438 | MYBPC3 | c.3687G>T (p.Met1229Ile) c.3669G>T (p.Met1223Ile) c.3606G>T (p.Met1202Ile) | |
| 11 | g.47332199C>G | CA380311442 | MYBPC3 | c.3687G>C (p.Met1229Ile) c.3669G>C (p.Met1223Ile) c.3606G>C (p.Met1202Ile) | |
| 11 | g.47332199C>T | CA380311445 | MYBPC3 | c.3687G>A (p.Met1229Ile) c.3669G>A (p.Met1223Ile) c.3606G>A (p.Met1202Ile) | |
| 11 | g.47332200A= | CA1969333481 | MYBPC3 | c.3686T= (p.Met1229=) c.3668T= (p.Met1223=) c.3605T= (p.Met1202=) | |
| 11 | g.47332200A>C | CA380311448 | MYBPC3 | c.3686T>G (p.Met1229Arg) c.3668T>G (p.Met1223Arg) c.3605T>G (p.Met1202Arg) | |
| 11 | g.47332200A>G | CA380311452 | MYBPC3 | c.3686T>C (p.Met1229Thr) c.3668T>C (p.Met1223Thr) c.3605T>C (p.Met1202Thr) | ClinVar dbSNP |
| 11 | g.47332200A>T | CA380311456 | MYBPC3 | c.3686T>A (p.Met1229Lys) c.3668T>A (p.Met1223Lys) c.3605T>A (p.Met1202Lys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332201T>A | CA380311461 | MYBPC3 | c.3685A>T (p.Met1229Leu) c.3667A>T (p.Met1223Leu) c.3604A>T (p.Met1202Leu) | |
| 11 | g.47332201T>C | CA014628 | MYBPC3 | c.3685A>G (p.Met1229Val) c.3667A>G (p.Met1223Val) c.3604A>G (p.Met1202Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47332201T>G | CA380311466 | MYBPC3 | c.3685A>C (p.Met1229Leu) c.3667A>C (p.Met1223Leu) c.3604A>C (p.Met1202Leu) | |
| 11 | g.47332201T= | CA1969333483 | MYBPC3 | c.3685A= (p.Met1229=) c.3667A= (p.Met1223=) c.3604A= (p.Met1202=) | |
| 11 | g.47332202G>A | CA474428879 | MYBPC3 | c.3684C>T (p.Arg1228=) c.3666C>T (p.Arg1222=) c.3603C>T (p.Arg1201=) | |
| 11 | g.47332202G>C | CA474428878 | MYBPC3 | c.3684C>G (p.Arg1228=) c.3666C>G (p.Arg1222=) c.3603C>G (p.Arg1201=) | |
| 11 | g.47332202G>T | CA474428877 | MYBPC3 | c.3684C>A (p.Arg1228=) c.3666C>A (p.Arg1222=) c.3603C>A (p.Arg1201=) | |
| 11 | g.47332203_47332204dup | CA2695213902 | MYBPC3 | c.3683_3684dup (p.Met1229AlafsTer9) c.3665_3666dup (p.Met1223AlafsTer9) c.3602_3603dup (p.Met1202AlafsTer9) | |
| 11 | g.47332203C>A | CA380311470 | MYBPC3 | c.3683G>T (p.Arg1228Leu) c.3665G>T (p.Arg1222Leu) c.3602G>T (p.Arg1201Leu) | gnomAD v4 |
| 11 | g.47332203C= | CA1969333487 | MYBPC3 | c.3683G= (p.Arg1228=) c.3665G= (p.Arg1222=) c.3602G= (p.Arg1201=) | |
| 11 | g.47332203C>G | CA014618 | MYBPC3 | c.3683G>C (p.Arg1228Pro) c.3665G>C (p.Arg1222Pro) c.3602G>C (p.Arg1201Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47332203C>T | CA079505 | MYBPC3 | c.3683G>A (p.Arg1228His) c.3665G>A (p.Arg1222His) c.3602G>A (p.Arg1201His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |