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 |
|---|---|---|---|---|---|
| 14 | g.23416020A= | CA2123465065 | MHRT,MYH7 | c.4937T= (p.Leu1646=) n.281A= | |
| 14 | g.23416020A>C | CA389037310 | MHRT,MYH7 | c.4937T>G (p.Leu1646Arg) n.281A>C | |
| 14 | g.23416020A>G | CA015466 | MHRT,MYH7 | c.4937T>C (p.Leu1646Pro) n.281A>G | ClinVar dbSNP |
| 14 | g.23416020A>T | CA389037311 | MHRT,MYH7 | c.4937T>A (p.Leu1646His) n.281A>T | |
| 14 | g.23416021G>A | CA389037314 | MHRT,MYH7 | c.4936C>T (p.Leu1646Phe) n.282G>A | gnomAD v4 |
| 14 | g.23416021G>C | CA389037313 | MHRT,MYH7 | c.4936C>G (p.Leu1646Val) n.282G>C | |
| 14 | g.23416021G>T | CA389037312 | MHRT,MYH7 | c.4936C>A (p.Leu1646Ile) n.282G>T | |
| 14 | g.23416021_23416022del | CA2624234047 | MHRT,MYH7 | c.4935_4936del (p.Leu1646ProfsTer?) n.282_283del | gnomAD v4 |
| 14 | g.23416022G>A | CA485766448 | MHRT,MYH7 | c.4935C>T (p.Ser1645=) n.283G>A | |
| 14 | g.23416022G>C | CA389037315 | MHRT,MYH7 | c.4935C>G (p.Ser1645Arg) n.283G>C | |
| 14 | g.23416022G= | CA2123465070 | MHRT,MYH7 | c.4935C= (p.Ser1645=) n.283G= | |
| 14 | g.23416022G>T | CA389037316 | MHRT,MYH7 | c.4935C>A (p.Ser1645Arg) n.283G>T | ClinVar dbSNP |
| 14 | g.23416023C>A | CA389037317 | MHRT,MYH7 | c.4934G>T (p.Ser1645Ile) n.284C>A | |
| 14 | g.23416023C>G | CA389037318 | MHRT,MYH7 | c.4934G>C (p.Ser1645Thr) n.284C>G | |
| 14 | g.23416023C>T | CA389037319 | MHRT,MYH7 | c.4934G>A (p.Ser1645Asn) n.284C>T | |
| 14 | g.23416024T>A | CA389037320 | MHRT,MYH7 | c.4933A>T (p.Ser1645Cys) n.285T>A | |
| 14 | g.23416024T>C | CA389037321 | MHRT,MYH7 | c.4933A>G (p.Ser1645Gly) n.285T>C | |
| 14 | g.23416024T>G | CA389037322 | MHRT,MYH7 | c.4933A>C (p.Ser1645Arg) n.285T>G | |
| 14 | g.23416025C>A | CA389037323 | MHRT,MYH7 | c.4932G>T (p.Lys1644Asn) n.286C>A | |
| 14 | g.23416025C= | CA2123465075 | MHRT,MYH7 | c.4932G= (p.Lys1644=) n.286C= | |
| 14 | g.23416025C>G | CA389037324 | MHRT,MYH7 | c.4932G>C (p.Lys1644Asn) n.286C>G | |
| 14 | g.23416025C>T | CA485766453 | MHRT,MYH7 | c.4932G>A (p.Lys1644=) n.286C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23416026T>A | CA389037325 | MHRT,MYH7 | c.4931A>T (p.Lys1644Met) n.287T>A | |
| 14 | g.23416026T>C | CA389037326 | MHRT,MYH7 | c.4931A>G (p.Lys1644Arg) n.287T>C | |
| 14 | g.23416026T>G | CA389037327 | MHRT,MYH7 | c.4931A>C (p.Lys1644Thr) n.287T>G | gnomAD v4 |
| 14 | g.23416027T>A | CA389037330 | MHRT,MYH7 | c.4930A>T (p.Lys1644Ter) n.288T>A | |
| 14 | g.23416027T>C | CA389037328 | MHRT,MYH7 | c.4930A>G (p.Lys1644Glu) n.288T>C | |
| 14 | g.23416027T>G | CA389037329 | MHRT,MYH7 | c.4930A>C (p.Lys1644Gln) n.288T>G | |
| 14 | g.23416028G>A | CA485766459 | MHRT,MYH7 | c.4929C>T (p.Val1643=) n.289G>A | dbSNP gnomAD v4 |
| 14 | g.23416028G>C | CA485766460 | MHRT,MYH7 | c.4929C>G (p.Val1643=) n.289G>C | |
| 14 | g.23416028G>T | CA485766461 | MHRT,MYH7 | c.4929C>A (p.Val1643=) n.289G>T | |
| 14 | g.23416029A>C | CA389037331 | MHRT,MYH7 | c.4928T>G (p.Val1643Gly) n.290A>C | |
| 14 | g.23416029A>G | CA389037332 | MHRT,MYH7 | c.4928T>C (p.Val1643Ala) n.290A>G | |
| 14 | g.23416029A>T | CA389037333 | MHRT,MYH7 | c.4928T>A (p.Val1643Asp) n.290A>T | |
| 14 | g.23416030C>A | CA389037334 | MHRT,MYH7 | c.4927G>T (p.Val1643Phe) n.291C>A | |
| 14 | g.23416030C>G | CA389037335 | MHRT,MYH7 | c.4927G>C (p.Val1643Leu) n.291C>G | |
| 14 | g.23416030C>T | CA389037336 | MHRT,MYH7 | c.4927G>A (p.Val1643Ile) n.291C>T | |
| 14 | g.23416031T>A | CA389037337 | MHRT,MYH7 | c.4926A>T (p.Gln1642His) n.292T>A | |
| 14 | g.23416031T>C | CA485766463 | MHRT,MYH7 | c.4926A>G (p.Gln1642=) n.292T>C | gnomAD v4 |
| 14 | g.23416031T>G | CA389037338 | MHRT,MYH7 | c.4926A>C (p.Gln1642His) n.292T>G | |
| 14 | g.23416032T>A | CA389037339 | MHRT,MYH7 | c.4925A>T (p.Gln1642Leu) n.293T>A | |
| 14 | g.23416032T>C | CA389037340 | MHRT,MYH7 | c.4925A>G (p.Gln1642Arg) n.293T>C | |
| 14 | g.23416032T>G | CA389037341 | MHRT,MYH7 | c.4925A>C (p.Gln1642Pro) n.293T>G | |
| 14 | g.23416033G>A | CA389037344 | MHRT,MYH7 | c.4924C>T (p.Gln1642Ter) n.294G>A | |
| 14 | g.23416033G>C | CA389037343 | MHRT,MYH7 | c.4924C>G (p.Gln1642Glu) n.294G>C | gnomAD v4 |
| 14 | g.23416033G>T | CA389037342 | MHRT,MYH7 | c.4924C>A (p.Gln1642Lys) n.294G>T | |
| 14 | g.23416034C>A | CA389037345 | MHRT,MYH7 | c.4923G>T (p.Lys1641Asn) n.295C>A | |
| 14 | g.23416034C>G | CA389037346 | MHRT,MYH7 | c.4923G>C (p.Lys1641Asn) n.295C>G | |
| 14 | g.23416034C>T | CA485766466 | MHRT,MYH7 | c.4923G>A (p.Lys1641=) n.295C>T | |
| 14 | g.23416035T>A | CA389037347 | MHRT,MYH7 | c.4922A>T (p.Lys1641Met) n.296T>A |