| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.110911089_110911093del | CA913190434 | MYL2 | c.491_495del (p.Glu164GlyfsTer?) c.434_438del (p.Glu145GlyfsTer?) c.449_453del (p.Glu150GlyfsTer?) | ClinVar dbSNP |
| 12 | g.110911092_110911094del | CA2580085795 | MYL2 | c.485_487del (p.Gly162del) c.428_430del (p.Gly143del) c.443_445del (p.Gly148del) | ClinVar |
| 12 | g.110911093C>A | CA386696714 | MYL2 | c.485G>T (p.Gly162Val) c.428G>T (p.Gly143Val) c.443G>T (p.Gly148Val) | |
| 12 | g.110911093C= | CA2063066635 | MYL2 | c.485G= (p.Gly162=) c.428G= (p.Gly143=) c.443G= (p.Gly148=) | |
| 12 | g.110911093C>G | CA386696713 | MYL2 | c.485G>C (p.Gly162Ala) c.428G>C (p.Gly143Ala) c.443G>C (p.Gly148Ala) | |
| 12 | g.110911093C>T | CA010439 | MYL2 | c.485G>A (p.Gly162Glu) c.428G>A (p.Gly143Glu) c.443G>A (p.Gly148Glu) | ClinVar dbSNP |
| 12 | g.110911094C>A | CA386696715 | MYL2 | c.484G>T (p.Gly162Ter) c.427G>T (p.Gly143Ter) c.442G>T (p.Gly148Ter) | ClinVar dbSNP |
| 12 | g.110911094C= | CA2063066646 | MYL2 | c.484G= (p.Gly162=) c.427G= (p.Gly143=) c.442G= (p.Gly148=) | |
| 12 | g.110911094C>G | CA386696716 | MYL2 | c.484G>C (p.Gly162Arg) c.427G>C (p.Gly143Arg) c.442G>C (p.Gly148Arg) | |
| 12 | g.110911094C>T | CA010431 | MYL2 | c.484G>A (p.Gly162Arg) c.427G>A (p.Gly143Arg) c.442G>A (p.Gly148Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.110911095G>A | CA481750664 | MYL2 | c.483C>T (p.His161=) c.426C>T (p.His142=) c.441C>T (p.His147=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.110911095G>C | CA386696717 | MYL2 | c.483C>G (p.His161Gln) c.426C>G (p.His142Gln) c.441C>G (p.His147Gln) | |
| 12 | g.110911095G= | CA2063066655 | MYL2 | c.483C= (p.His161=) c.426C= (p.His142=) c.441C= (p.His147=) | |
| 12 | g.110911095G>T | CA10587734 | MYL2 | c.483C>A (p.His161Gln) c.426C>A (p.His142Gln) c.441C>A (p.His147Gln) | ClinVar dbSNP |
| 12 | g.110911096T>A | CA386696718 | MYL2 | c.482A>T (p.His161Leu) c.425A>T (p.His142Leu) c.440A>T (p.His147Leu) | |
| 12 | g.110911096T>C | CA010425 | MYL2 | c.482A>G (p.His161Arg) c.425A>G (p.His142Arg) c.440A>G (p.His147Arg) | ClinVar dbSNP |
| 12 | g.110911096T>G | CA386696719 | MYL2 | c.482A>C (p.His161Pro) c.425A>C (p.His142Pro) c.440A>C (p.His147Pro) | |
| 12 | g.110911096T= | CA2063066665 | MYL2 | c.482A= (p.His161=) c.425A= (p.His142=) c.440A= (p.His147=) | |
| 12 | g.110911097G>A | CA386696720 | MYL2 | c.481C>T (p.His161Tyr) c.424C>T (p.His142Tyr) c.439C>T (p.His147Tyr) | |
| 12 | g.110911097G>C | CA386696722 | MYL2 | c.481C>G (p.His161Asp) c.424C>G (p.His142Asp) c.439C>G (p.His147Asp) | |
| 12 | g.110911097G>T | CA386696721 | MYL2 | c.481C>A (p.His161Asn) c.424C>A (p.His142Asn) c.439C>A (p.His147Asn) | COSMIC |
| 12 | g.110911098G>A | CA010418 | MYL2 | c.480C>T (p.Thr160=) c.423C>T (p.Thr141=) c.438C>T (p.Thr146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.110911098G>C | CA481750671 | MYL2 | c.480C>G (p.Thr160=) c.423C>G (p.Thr141=) c.438C>G (p.Thr146=) | |
| 12 | g.110911098G= | CA2063066670 | MYL2 | c.480C= (p.Thr160=) c.423C= (p.Thr141=) c.438C= (p.Thr146=) | |
| 12 | g.110911098G>T | CA481750673 | MYL2 | c.480C>A (p.Thr160=) c.423C>A (p.Thr141=) c.438C>A (p.Thr146=) | |
| 12 | g.110911099G>A | CA386696723 | MYL2 | c.479C>T (p.Thr160Ile) c.422C>T (p.Thr141Ile) c.437C>T (p.Thr146Ile) | gnomAD v4 |
| 12 | g.110911099G>C | CA386696724 | MYL2 | c.479C>G (p.Thr160Ser) c.422C>G (p.Thr141Ser) c.437C>G (p.Thr146Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.110911099G= | CA2063066675 | MYL2 | c.479C= (p.Thr160=) c.422C= (p.Thr141=) c.437C= (p.Thr146=) | |
| 12 | g.110911099G>T | CA386696725 | MYL2 | c.479C>A (p.Thr160Asn) c.422C>A (p.Thr141Asn) c.437C>A (p.Thr146Asn) | ClinVar |
| 12 | g.110911100T>A | CA386696726 | MYL2 | c.478A>T (p.Thr160Ser) c.421A>T (p.Thr141Ser) c.436A>T (p.Thr146Ser) | |
| 12 | g.110911100T>C | CA386696727 | MYL2 | c.478A>G (p.Thr160Ala) c.421A>G (p.Thr141Ala) c.436A>G (p.Thr146Ala) | |
| 12 | g.110911100T>G | CA386696728 | MYL2 | c.478A>C (p.Thr160Pro) c.421A>C (p.Thr141Pro) c.436A>C (p.Thr146Pro) | |
| 12 | g.110911105_110911107dup | CA891844540 | MYL2 | c.476_478dup (p.Ile159_Thr160insIle) c.419_421dup (p.Ile140_Thr141insIle) c.434_436dup (p.Ile145_Thr146insIle) | ClinVar dbSNP |
| 12 | g.110911101G>A | CA481750679 | MYL2 | c.477C>T (p.Ile159=) c.420C>T (p.Ile140=) c.435C>T (p.Ile145=) | |
| 12 | g.110911101G>C | CA386696729 | MYL2 | c.477C>G (p.Ile159Met) c.420C>G (p.Ile140Met) c.435C>G (p.Ile145Met) | |
| 12 | g.110911101G>T | CA481750681 | MYL2 | c.477C>A (p.Ile159=) c.420C>A (p.Ile140=) c.435C>A (p.Ile145=) | |
| 12 | g.110911102A= | CA2063066690 | MYL2 | c.476T= (p.Ile159=) c.419T= (p.Ile140=) c.434T= (p.Ile145=) | |
| 12 | g.110911102A>C | CA386696730 | MYL2 | c.476T>G (p.Ile159Ser) c.419T>G (p.Ile140Ser) c.434T>G (p.Ile145Ser) | ClinVar |
| 12 | g.110911102A>G | CA386696731 | MYL2 | c.476T>C (p.Ile159Thr) c.419T>C (p.Ile140Thr) c.434T>C (p.Ile145Thr) | ClinVar dbSNP |
| 12 | g.110911102A>T | CA386696732 | MYL2 | c.476T>A (p.Ile159Asn) c.419T>A (p.Ile140Asn) c.434T>A (p.Ile145Asn) | |
| 12 | g.110911103T>A | CA386696734 | MYL2 | c.475A>T (p.Ile159Phe) c.418A>T (p.Ile140Phe) c.433A>T (p.Ile145Phe) | |
| 12 | g.110911103T>C | CA043353 | MYL2 | c.475A>G (p.Ile159Val) c.418A>G (p.Ile140Val) c.433A>G (p.Ile145Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.110911103T>G | CA386696733 | MYL2 | c.475A>C (p.Ile159Leu) c.418A>C (p.Ile140Leu) c.433A>C (p.Ile145Leu) | |
| 12 | g.110911103T= | CA2063066695 | MYL2 | c.475A= (p.Ile159=) c.418A= (p.Ile140=) c.433A= (p.Ile145=) | |
| 12 | g.110911104G>A | CA481750686 | MYL2 | c.474C>T (p.Ile158=) c.417C>T (p.Ile139=) c.432C>T (p.Ile144=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.110911104G>C | CA386696735 | MYL2 | c.474C>G (p.Ile158Met) c.417C>G (p.Ile139Met) c.432C>G (p.Ile144Met) | |
| 12 | g.110911104G= | CA2063066701 | MYL2 | c.474C= (p.Ile158=) c.417C= (p.Ile139=) c.432C= (p.Ile144=) | |
| 12 | g.110911104G>T | CA481750688 | MYL2 | c.474C>A (p.Ile158=) c.417C>A (p.Ile139=) c.432C>A (p.Ile144=) | |
| 12 | g.110911105A>C | CA386696736 | MYL2 | c.473T>G (p.Ile158Ser) c.416T>G (p.Ile139Ser) c.431T>G (p.Ile144Ser) | |
| 12 | g.110911105A>G | CA386696737 | MYL2 | c.473T>C (p.Ile158Thr) c.416T>C (p.Ile139Thr) c.431T>C (p.Ile144Thr) | ClinVar dbSNP |