| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23431798A= | CA2123452686 | MYH7 | c.602T= (p.Ile201=) n.708T= | |
| 14 | g.23431798A>C | CA389052445 | MYH7 | c.602T>G (p.Ile201Ser) n.708T>G | |
| 14 | g.23431798A>G | CA016526 | MYH7 | c.602T>C (p.Ile201Thr) n.708T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431798A>T | CA389052446 | MYH7 | c.602T>A (p.Ile201Asn) n.708T>A | dbSNP |
| 14 | g.23431799T>A | CA048494 | MYH7 | c.601A>T (p.Ile201Phe) n.707A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431799T>C | CA389052448 | MYH7 | c.601A>G (p.Ile201Val) n.707A>G | |
| 14 | g.23431799T>G | CA389052447 | MYH7 | c.601A>C (p.Ile201Leu) n.707A>C | |
| 14 | g.23431799T= | CA2123452693 | MYH7 | c.601A= (p.Ile201=) n.707A= | |
| 14 | g.23431800G>A | CA485767394 | MYH7 | c.600C>T (p.Ala200=) n.706C>T | gnomAD v4 |
| 14 | g.23431800G>C | CA485767396 | MYH7 | c.600C>G (p.Ala200=) n.706C>G | |
| 14 | g.23431800G>T | CA485767395 | MYH7 | c.600C>A (p.Ala200=) n.706C>A | |
| 14 | g.23431801G>A | CA389052449 | MYH7 | c.599C>T (p.Ala200Val) n.705C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431801G>C | CA389052450 | MYH7 | c.599C>G (p.Ala200Gly) n.705C>G | |
| 14 | g.23431801G= | CA2123452698 | MYH7 | c.599C= (p.Ala200=) n.705C= | |
| 14 | g.23431801G>T | CA389052451 | MYH7 | c.599C>A (p.Ala200Asp) n.705C>A | |
| 14 | g.23431802C>A | CA389052452 | MYH7 | c.598G>T (p.Ala200Ser) n.704G>T | |
| 14 | g.23431802C>G | CA389052453 | MYH7 | c.598G>C (p.Ala200Pro) n.704G>C | |
| 14 | g.23431802C>T | CA389052454 | MYH7 | c.598G>A (p.Ala200Thr) n.704G>A | |
| 14 | g.23431803T>A | CA485767398 | MYH7 | c.597A>T (p.Ala199=) n.703A>T | |
| 14 | g.23431803T>C | CA016520 | MYH7 | c.597A>G (p.Ala199=) n.703A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431803T>G | CA485767397 | MYH7 | c.597A>C (p.Ala199=) n.703A>C | |
| 14 | g.23431803T= | CA2123452706 | MYH7 | c.597A= (p.Ala199=) n.703A= | |
| 14 | g.23431804G>A | CA016513 | MYH7 | c.596C>T (p.Ala199Val) n.702C>T | ClinVar dbSNP COSMIC |
| 14 | g.23431804G>C | CA389052456 | MYH7 | c.596C>G (p.Ala199Gly) n.702C>G | |
| 14 | g.23431804G= | CA2123452712 | MYH7 | c.596C= (p.Ala199=) n.702C= | |
| 14 | g.23431804G>T | CA389052455 | MYH7 | c.596C>A (p.Ala199Glu) n.702C>A | |
| 14 | g.23431805C>A | CA389052457 | MYH7 | c.595G>T (p.Ala199Ser) n.701G>T | |
| 14 | g.23431805C= | CA2123452715 | MYH7 | c.595G= (p.Ala199=) n.701G= | |
| 14 | g.23431805C>G | CA389052458 | MYH7 | c.595G>C (p.Ala199Pro) n.701G>C | |
| 14 | g.23431805C>T | CA016506 | MYH7 | c.595G>A (p.Ala199Thr) n.701G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431806A= | CA2123452719 | MYH7 | c.594T= (p.Ile198=) n.700T= | |
| 14 | g.23431806A>C | CA389052459 | MYH7 | c.594T>G (p.Ile198Met) n.700T>G | |
| 14 | g.23431806A>G | CA048477 | MYH7 | c.594T>C (p.Ile198=) n.700T>C | dbSNP ExAC gnomAD v2 |
| 14 | g.23431806A>T | CA485767399 | MYH7 | c.594T>A (p.Ile198=) n.700T>A | |
| 14 | g.23431807A>C | CA389052460 | MYH7 | c.593T>G (p.Ile198Ser) n.699T>G | |
| 14 | g.23431807A>G | CA389052461 | MYH7 | c.593T>C (p.Ile198Thr) n.699T>C | |
| 14 | g.23431807A>T | CA389052462 | MYH7 | c.593T>A (p.Ile198Asn) n.699T>A | |
| 14 | g.23431808T>A | CA389052465 | MYH7 | c.592A>T (p.Ile198Phe) n.698A>T | |
| 14 | g.23431808T>C | CA389052464 | MYH7 | c.592A>G (p.Ile198Val) n.698A>G | |
| 14 | g.23431808T>G | CA389052463 | MYH7 | c.592A>C (p.Ile198Leu) n.698A>C | |
| 14 | g.23431809A>C | CA485767400 | MYH7 | c.591T>G (p.Val197=) n.697T>G | |
| 14 | g.23431809A>G | CA485767401 | MYH7 | c.591T>C (p.Val197=) n.697T>C | |
| 14 | g.23431809A>T | CA485767402 | MYH7 | c.591T>A (p.Val197=) n.697T>A | |
| 14 | g.23431810A>C | CA389052466 | MYH7 | c.590T>G (p.Val197Gly) n.696T>G | |
| 14 | g.23431810A>G | CA389052467 | MYH7 | c.590T>C (p.Val197Ala) n.696T>C | |
| 14 | g.23431810A>T | CA389052468 | MYH7 | c.590T>A (p.Val197Asp) n.696T>A | |
| 14 | g.23431811C>A | CA389052469 | MYH7 | c.589G>T (p.Val197Phe) n.695G>T | |
| 14 | g.23431811C= | CA2123452726 | MYH7 | c.589G= (p.Val197=) n.695G= | |
| 14 | g.23431811C>G | CA389052470 | MYH7 | c.589G>C (p.Val197Leu) n.695G>C | |
| 14 | g.23431811C>T | CA048464 | MYH7 | c.589G>A (p.Val197Ile) n.695G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431812A>C | CA485767403 | MYH7 | c.588T>G (p.Ala196=) n.694T>G | |
| 14 | g.23431812A>G | CA485767404 | MYH7 | c.588T>C (p.Ala196=) n.694T>C | |
| 14 | g.23431812A>T | CA485767405 | MYH7 | c.588T>A (p.Ala196=) n.694T>A | |
| 14 | g.23431813G>A | CA389052471 | MYH7 | c.587C>T (p.Ala196Val) n.693C>T | |
| 14 | g.23431813G>C | CA389052473 | MYH7 | c.587C>G (p.Ala196Gly) n.693C>G | ClinVar |
| 14 | g.23431813G>T | CA389052472 | MYH7 | c.587C>A (p.Ala196Asp) n.693C>A | |
| 14 | g.23431814C>A | CA389052474 | MYH7 | c.586G>T (p.Ala196Ser) n.692G>T | |
| 14 | g.23431814C= | CA2123452728 | MYH7 | c.586G= (p.Ala196=) n.692G= | |
| 14 | g.23431814C>G | CA389052475 | MYH7 | c.586G>C (p.Ala196Pro) n.692G>C | |
| 14 | g.23431814C>T | CA389052476 | MYH7 | c.586G>A (p.Ala196Thr) n.692G>A | dbSNP |
| 14 | g.23431815A>C | CA389052477 | MYH7 | c.585T>G (p.Phe195Leu) n.691T>G | |
| 14 | g.23431815A>G | CA485767406 | MYH7 | c.585T>C (p.Phe195=) n.691T>C | |
| 14 | g.23431815A>T | CA389052478 | MYH7 | c.585T>A (p.Phe195Leu) n.691T>A | |
| 14 | g.23431816A>C | CA389052479 | MYH7 | c.584T>G (p.Phe195Cys) n.690T>G | |
| 14 | g.23431816A>G | CA389052480 | MYH7 | c.584T>C (p.Phe195Ser) n.690T>C | |
| 14 | g.23431816A>T | CA389052481 | MYH7 | c.584T>A (p.Phe195Tyr) n.690T>A | |
| 14 | g.23431817A>C | CA389052482 | MYH7 | c.583T>G (p.Phe195Val) n.689T>G | |
| 14 | g.23431817A>G | CA389052483 | MYH7 | c.583T>C (p.Phe195Leu) n.689T>C | |
| 14 | g.23431817A>T | CA389052484 | MYH7 | c.583T>A (p.Phe195Ile) n.689T>A | |
| 14 | g.23431818G>A | CA485767407 | MYH7 | c.582C>T (p.Tyr194=) n.688C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431818G>C | CA389052485 | MYH7 | c.582C>G (p.Tyr194Ter) n.688C>G | ClinVar |
| 14 | g.23431818G= | CA2123452732 | MYH7 | c.582C= (p.Tyr194=) n.688C= | |
| 14 | g.23431818G>T | CA389052486 | MYH7 | c.582C>A (p.Tyr194Ter) n.688C>A | |
| 14 | g.23431819T>A | CA389052487 | MYH7 | c.581A>T (p.Tyr194Phe) n.687A>T | |
| 14 | g.23431819T>C | CA389052488 | MYH7 | c.581A>G (p.Tyr194Cys) n.687A>G | ClinVar |
| 14 | g.23431819T>G | CA389052489 | MYH7 | c.581A>C (p.Tyr194Ser) n.687A>C | |
| 14 | g.23431820A>C | CA389052490 | MYH7 | c.580T>G (p.Tyr194Asp) n.686T>G | |
| 14 | g.23431820A>G | CA389052491 | MYH7 | c.580T>C (p.Tyr194His) n.686T>C | COSMIC |
| 14 | g.23431820A>T | CA389052492 | MYH7 | c.580T>A (p.Tyr194Asn) n.686T>A | |
| 14 | g.23431821C>A | CA389052493 | MYH7 | c.579G>T (p.Gln193His) n.685G>T | |
| 14 | g.23431821C>G | CA389052494 | MYH7 | c.579G>C (p.Gln193His) n.685G>C | |
| 14 | g.23431821C>T | CA485767408 | MYH7 | c.579G>A (p.Gln193=) n.685G>A | |
| 14 | g.23431822T>A | CA389052495 | MYH7 | c.578A>T (p.Gln193Leu) n.684A>T | ClinVar dbSNP |
| 14 | g.23431822T>C | CA389052497 | MYH7 | c.578A>G (p.Gln193Arg) n.684A>G | ClinVar dbSNP |
| 14 | g.23431822T>G | CA389052496 | MYH7 | c.578A>C (p.Gln193Pro) n.684A>C | |
| 14 | g.23431822T= | CA2123452743 | MYH7 | c.578A= (p.Gln193=) n.684A= | |
| 14 | g.23431823G>A | CA389052498 | MYH7 | c.577C>T (p.Gln193Ter) n.683C>T | |
| 14 | g.23431823G>C | CA389052499 | MYH7 | c.577C>G (p.Gln193Glu) n.683C>G | |
| 14 | g.23431823G>T | CA389052500 | MYH7 | c.577C>A (p.Gln193Lys) n.683C>A | |
| 14 | g.23431824G>A | CA485767409 | MYH7 | c.576C>T (p.Ile192=) n.682C>T | |
| 14 | g.23431824G>C | CA389052501 | MYH7 | c.576C>G (p.Ile192Met) n.682C>G | |
| 14 | g.23431824G>T | CA485767410 | MYH7 | c.576C>A (p.Ile192=) n.682C>A | |
| 14 | g.23431824_23431825delinsGA | CA2123452749 | MYH7 | c.575_576delinsTC (p.Ile192=) n.681_682delinsTC | |
| 14 | g.23431825del | CA613317794 | MYH7 | c.575del (p.Ile192ThrfsTer?) n.681del | dbSNP gnomAD v2 |
| 14 | g.23431825A>C | CA389052502 | MYH7 | c.575T>G (p.Ile192Ser) n.681T>G | |
| 14 | g.23431825A>G | CA389052504 | MYH7 | c.575T>C (p.Ile192Thr) n.681T>C | |
| 14 | g.23431825A>T | CA389052503 | MYH7 | c.575T>A (p.Ile192Asn) n.681T>A | |
| 14 | g.23431826T>A | CA389052505 | MYH7 | c.574A>T (p.Ile192Phe) n.680A>T | |
| 14 | g.23431826T>C | CA16614503 | MYH7 | c.574A>G (p.Ile192Val) n.680A>G | ClinVar dbSNP |
| 14 | g.23431826T>G | CA389052506 | MYH7 | c.574A>C (p.Ile192Leu) n.680A>C | |
| 14 | g.23431826T= | CA2123452757 | MYH7 | c.574A= (p.Ile192=) n.680A= | |
| 14 | g.23431827G>A | CA485767411 | MYH7 | c.573C>T (p.Val191=) n.679C>T | dbSNP |
| 14 | g.23431827G>C | CA485767412 | MYH7 | c.573C>G (p.Val191=) n.679C>G | |
| 14 | g.23431827G= | CA2123452760 | MYH7 | c.573C= (p.Val191=) n.679C= | |
| 14 | g.23431827G>T | CA485767413 | MYH7 | c.573C>A (p.Val191=) n.679C>A | |
| 14 | g.23431828A= | CA2123452764 | MYH7 | c.572T= (p.Val191=) n.678T= | |
| 14 | g.23431828A>C | CA389052507 | MYH7 | c.572T>G (p.Val191Gly) n.678T>G | |
| 14 | g.23431828A>G | CA389052508 | MYH7 | c.572T>C (p.Val191Ala) n.678T>C | |
| 14 | g.23431828A>T | CA10577510 | MYH7 | c.572T>A (p.Val191Asp) n.678T>A | ClinVar dbSNP |
| 14 | g.23431829C>A | CA389052509 | MYH7 | c.571G>T (p.Val191Phe) n.677G>T | |
| 14 | g.23431829C>G | CA389052510 | MYH7 | c.571G>C (p.Val191Leu) n.677G>C | |
| 14 | g.23431829C>T | CA389052511 | MYH7 | c.571G>A (p.Val191Ile) n.677G>A | ClinVar dbSNP |
| 14 | g.23431830C>A | CA389052512 | MYH7 | c.570G>T (p.Arg190Ser) n.676G>T | |
| 14 | g.23431830C= | CA2123452767 | MYH7 | c.570G= (p.Arg190=) n.676G= | |
| 14 | g.23431830C>G | CA389052513 | MYH7 | c.570G>C (p.Arg190Ser) n.676G>C | |
| 14 | g.23431830C>T | CA485767414 | MYH7 | c.570G>A (p.Arg190=) n.676G>A | ClinVar dbSNP |
| 14 | g.23431831C>A | CA389052516 | MYH7 | c.569G>T (p.Arg190Met) n.675G>T | |
| 14 | g.23431831C= | CA2123452771 | MYH7 | c.569G= (p.Arg190=) n.675G= | |
| 14 | g.23431831C>G | CA389052514 | MYH7 | c.569G>C (p.Arg190Thr) n.675G>C | dbSNP |
| 14 | g.23431831C>T | CA389052515 | MYH7 | c.569G>A (p.Arg190Lys) n.675G>A | |
| 14 | g.23431831_23431832delinsCT | CA2123452773 | MYH7 | c.568_569delinsAG (p.Arg190=) n.674_675delinsAG | |
| 14 | g.23431832del | CA919376112 | MYH7 | c.568del (p.Arg190GlyfsTer?) n.674del | dbSNP |
| 14 | g.23431832T>A | CA389052517 | MYH7 | c.568A>T (p.Arg190Trp) n.674A>T | |
| 14 | g.23431832T>C | CA389052518 | MYH7 | c.568A>G (p.Arg190Gly) n.674A>G | dbSNP |
| 14 | g.23431832T>G | CA485767415 | MYH7 | c.568A>C (p.Arg190=) n.674A>C | |
| 14 | g.23431832T= | CA2123452776 | MYH7 | c.568A= (p.Arg190=) n.674A= | |
| 14 | g.23431833C>A | CA389052519 | MYH7 | c.567G>T (p.Lys189Asn) n.673G>T | |
| 14 | g.23431833C>G | CA389052520 | MYH7 | c.567G>C (p.Lys189Asn) n.673G>C | |
| 14 | g.23431833C>T | CA485767416 | MYH7 | c.567G>A (p.Lys189=) n.673G>A | |
| 14 | g.23431833_23431834delinsCT | CA2123452779 | MYH7 | c.566_567delinsAG (p.Lys189=) n.672_673delinsAG | |
| 14 | g.23431834T>A | CA389052521 | MYH7 | c.566A>T (p.Lys189Met) n.672A>T | |
| 14 | g.23431834T>C | CA389052522 | MYH7 | c.566A>G (p.Lys189Arg) n.672A>G | ClinVar dbSNP |
| 14 | g.23431834T>G | CA389052523 | MYH7 | c.566A>C (p.Lys189Thr) n.672A>C | |
| 14 | g.23431835dup | CA2123452784 | MYH7 | c.566dup (p.Arg190GlufsTer?) n.672dup | dbSNP |
| 14 | g.23431835del | CA704269521 | MYH7 | c.566del (p.Lys189ArgfsTer?) n.672del | dbSNP gnomAD v4 |
| 14 | g.23431835T>A | CA389052539 | MYH7 | c.565A>T (p.Lys189Ter) n.671A>T | |
| 14 | g.23431835T>C | CA389052540 | MYH7 | c.565A>G (p.Lys189Glu) n.671A>G | COSMIC |
| 14 | g.23431835T>G | CA047931 | MYH7 | c.565A>C (p.Lys189Gln) n.671A>C | dbSNP ExAC |
| 14 | g.23431835T= | CA2123452788 | MYH7 | c.565A= (p.Lys189=) n.671A= | |
| 14 | g.23431836G>A | CA485626258 | MYH7 | c.564C>T (p.Thr188=) n.670C>T | gnomAD v4 |
| 14 | g.23431836G>C | CA485626259 | MYH7 | c.564C>G (p.Thr188=) n.670C>G | |
| 14 | g.23431836G= | CA2123452791 | MYH7 | c.564C= (p.Thr188=) n.670C= | |
| 14 | g.23431836G>T | CA047694 | MYH7 | c.564C>A (p.Thr188=) n.670C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431837G>A | CA389052541 | MYH7 | c.563C>T (p.Thr188Ile) n.669C>T | |
| 14 | g.23431837G>C | CA389052542 | MYH7 | c.563C>G (p.Thr188Ser) n.669C>G | |
| 14 | g.23431837G= | CA2123452793 | MYH7 | c.563C= (p.Thr188=) n.669C= | |
| 14 | g.23431837G>T | CA016314 | MYH7 | c.563C>A (p.Thr188Asn) n.669C>A | dbSNP |
| 14 | g.23431838T>A | CA389052545 | MYH7 | c.562A>T (p.Thr188Ser) n.668A>T | |
| 14 | g.23431838T>C | CA389052543 | MYH7 | c.562A>G (p.Thr188Ala) n.668A>G | |
| 14 | g.23431838T>G | CA389052544 | MYH7 | c.562A>C (p.Thr188Pro) n.668A>C | ClinVar dbSNP |
| 14 | g.23431838T= | CA2123452797 | MYH7 | c.562A= (p.Thr188=) n.668A= | |
| 14 | g.23431839G>A | CA485626260 | MYH7 | c.561C>T (p.Asn187=) n.667C>T | dbSNP gnomAD v4 |
| 14 | g.23431839G>C | CA16042879 | MYH7 | c.561C>G (p.Asn187Lys) n.667C>G | ClinVar dbSNP |
| 14 | g.23431839G= | CA2123452803 | MYH7 | c.561C= (p.Asn187=) n.667C= | |
| 14 | g.23431839G>T | CA389052546 | MYH7 | c.561C>A (p.Asn187Lys) n.667C>A | |
| 14 | g.23431840T>A | CA389052547 | MYH7 | c.560A>T (p.Asn187Ile) n.666A>T | |
| 14 | g.23431840T>C | CA016308 | MYH7 | c.560A>G (p.Asn187Ser) n.666A>G | ClinVar dbSNP |
| 14 | g.23431840T>G | CA389052548 | MYH7 | c.560A>C (p.Asn187Thr) n.666A>C | |
| 14 | g.23431840T= | CA2123452809 | MYH7 | c.560A= (p.Asn187=) n.666A= | |
| 14 | g.23431841T>A | CA389052549 | MYH7 | c.559A>T (p.Asn187Tyr) n.665A>T | |
| 14 | g.23431841T>C | CA389052550 | MYH7 | c.559A>G (p.Asn187Asp) n.665A>G | |
| 14 | g.23431841T>G | CA389052551 | MYH7 | c.559A>C (p.Asn187His) n.665A>C | ClinVar |
| 14 | g.23431842G>A | CA047607 | MYH7 | c.558C>T (p.Val186=) n.664C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431842G>C | CA485626262 | MYH7 | c.558C>G (p.Val186=) n.664C>G | |
| 14 | g.23431842G= | CA2123452812 | MYH7 | c.558C= (p.Val186=) n.664C= | |
| 14 | g.23431842G>T | CA485626261 | MYH7 | c.558C>A (p.Val186=) n.664C>A | |
| 14 | g.23431843A>C | CA389052552 | MYH7 | c.557T>G (p.Val186Gly) n.663T>G | |
| 14 | g.23431843A>G | CA389052553 | MYH7 | c.557T>C (p.Val186Ala) n.663T>C | |
| 14 | g.23431843A>T | CA389052554 | MYH7 | c.557T>A (p.Val186Asp) n.663T>A | |
| 14 | g.23431843_23431847delinsACTGT | CA2123452815 | MYH7 | c.553_557delinsACAGT (p.Thr185=) n.659_663delinsACAGT | |
| 14 | g.23431844C>A | CA389052556 | MYH7 | c.556G>T (p.Val186Phe) n.662G>T | |
| 14 | g.23431844C= | CA2123452821 | MYH7 | c.556G= (p.Val186=) n.662G= | |
| 14 | g.23431844C>G | CA016286 | MYH7 | c.556G>C (p.Val186Leu) n.662G>C | ClinVar dbSNP |
| 14 | g.23431844C>T | CA389052555 | MYH7 | c.556G>A (p.Val186Ile) n.662G>A | |
| 14 | g.23431846_23431849del | CA704269534 | MYH7 | c.553_556del (p.Thr185SerfsTer?) n.659_662del | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431845T>A | CA485626264 | MYH7 | c.555A>T (p.Thr185=) n.661A>T | |
| 14 | g.23431845T>C | CA047377 | MYH7 | c.555A>G (p.Thr185=) n.661A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431845T>G | CA485626263 | MYH7 | c.555A>C (p.Thr185=) n.661A>C | |
| 14 | g.23431845T= | CA2123452828 | MYH7 | c.555A= (p.Thr185=) n.661A= | |
| 14 | g.23431846G>A | CA389052557 | MYH7 | c.554C>T (p.Thr185Ile) n.660C>T | ClinVar dbSNP |
| 14 | g.23431846G>C | CA389052558 | MYH7 | c.554C>G (p.Thr185Arg) n.660C>G | |
| 14 | g.23431846G>T | CA389052559 | MYH7 | c.554C>A (p.Thr185Lys) n.660C>A | |
| 14 | g.23431847T>A | CA257826081 | MYH7 | c.553A>T (p.Thr185Ser) n.659A>T | dbSNP |
| 14 | g.23431847T>C | CA389052560 | MYH7 | c.553A>G (p.Thr185Ala) n.659A>G | |
| 14 | g.23431847T>G | CA389052561 | MYH7 | c.553A>C (p.Thr185Pro) n.659A>C | |
| 14 | g.23431847T= | CA2123452834 | MYH7 | c.553A= (p.Thr185=) n.659A= | |
| 14 | g.23431848C>A | CA389052562 | MYH7 | c.552G>T (p.Lys184Asn) n.658G>T | |
| 14 | g.23431848C= | CA2123452838 | MYH7 | c.552G= (p.Lys184=) n.658G= | |
| 14 | g.23431848C>G | CA389052563 | MYH7 | c.552G>C (p.Lys184Asn) n.658G>C | |
| 14 | g.23431848C>T | CA047123 | MYH7 | c.552G>A (p.Lys184=) n.658G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431849T>A | CA389052564 | MYH7 | c.551A>T (p.Lys184Met) n.657A>T | |
| 14 | g.23431849T>C | CA389052565 | MYH7 | c.551A>G (p.Lys184Arg) n.657A>G | |
| 14 | g.23431849T>G | CA389052566 | MYH7 | c.551A>C (p.Lys184Thr) n.657A>C | |
| 14 | g.23431850T>A | CA389052568 | MYH7 | c.550A>T (p.Lys184Ter) n.656A>T | |
| 14 | g.23431850T>C | CA389052567 | MYH7 | c.550A>G (p.Lys184Glu) n.656A>G | COSMIC |
| 14 | g.23431850T>G | CA016180 | MYH7 | c.550A>C (p.Lys184Gln) n.656A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431850T= | CA2123452844 | MYH7 | c.550A= (p.Lys184=) n.656A= | |
| 14 | g.23431851C>A | CA485626265 | MYH7 | c.549G>T (p.Gly183=) n.655G>T | |
| 14 | g.23431851C= | CA2123452853 | MYH7 | c.549G= (p.Gly183=) n.655G= | |
| 14 | g.23431851C>G | CA485626266 | MYH7 | c.549G>C (p.Gly183=) n.655G>C | |
| 14 | g.23431851C>T | CA485626267 | MYH7 | c.549G>A (p.Gly183=) n.655G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431852C>A | CA389052569 | MYH7 | c.548G>T (p.Gly183Val) n.654G>T | |
| 14 | g.23431852C>G | CA389052570 | MYH7 | c.548G>C (p.Gly183Ala) n.654G>C | |
| 14 | g.23431852C>T | CA389052571 | MYH7 | c.548G>A (p.Gly183Glu) n.654G>A | |
| 14 | g.23431853C>A | CA389052572 | MYH7 | c.547G>T (p.Gly183Trp) n.653G>T | |
| 14 | g.23431853C>G | CA389052573 | MYH7 | c.547G>C (p.Gly183Arg) n.653G>C | |
| 14 | g.23431853C>T | CA389052574 | MYH7 | c.547G>A (p.Gly183Arg) n.653G>A | |
| 14 | g.23431854T>A | CA485626268 | MYH7 | c.546A>T (p.Ala182=) n.652A>T | |
| 14 | g.23431854T>C | CA485626269 | MYH7 | c.546A>G (p.Ala182=) n.652A>G | dbSNP |
| 14 | g.23431854T>G | CA485626270 | MYH7 | c.546A>C (p.Ala182=) n.652A>C | |
| 14 | g.23431854T= | CA2123452862 | MYH7 | c.546A= (p.Ala182=) n.652A= | |
| 14 | g.23431855G>A | CA389052575 | MYH7 | c.545C>T (p.Ala182Val) n.651C>T | ClinVar |
| 14 | g.23431855G>C | CA389052576 | MYH7 | c.545C>G (p.Ala182Gly) n.651C>G | |
| 14 | g.23431855G>T | CA389052577 | MYH7 | c.545C>A (p.Ala182Glu) n.651C>A | |
| 14 | g.23431856C>A | CA389052578 | MYH7 | c.544G>T (p.Ala182Ser) n.650G>T | |
| 14 | g.23431856C>G | CA389052579 | MYH7 | c.544G>C (p.Ala182Pro) n.650G>C | |
| 14 | g.23431856C>T | CA389052580 | MYH7 | c.544G>A (p.Ala182Thr) n.650G>A | |
| 14 | g.23431857T>A | CA485626271 | MYH7 | c.543A>T (p.Gly181=) n.649A>T | |
| 14 | g.23431857T>C | CA485626272 | MYH7 | c.543A>G (p.Gly181=) n.649A>G | |
| 14 | g.23431857T>G | CA485626273 | MYH7 | c.543A>C (p.Gly181=) n.649A>C | |
| 14 | g.23431858C>A | CA389052581 | MYH7 | c.542G>T (p.Gly181Val) n.648G>T | |
| 14 | g.23431858C>G | CA389052583 | MYH7 | c.542G>C (p.Gly181Ala) n.648G>C | COSMIC |
| 14 | g.23431858C>T | CA389052582 | MYH7 | c.542G>A (p.Gly181Glu) n.648G>A | ClinVar dbSNP |
| 14 | g.23431859del | CA2575486877 | MYH7 | c.542del (p.Gly181GlufsTer?) n.648del | |
| 14 | g.23431859C>A | CA389052584 | MYH7 | c.541G>T (p.Gly181Ter) n.647G>T | |
| 14 | g.23431859C= | CA2123452866 | MYH7 | c.541G= (p.Gly181=) n.647G= | |
| 14 | g.23431859C>G | CA389052585 | MYH7 | c.541G>C (p.Gly181Arg) n.647G>C | |
| 14 | g.23431859C>T | CA046725 | MYH7 | c.541G>A (p.Gly181Arg) n.647G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431860G>A | CA046693 | MYH7 | c.540C>T (p.Ser180=) n.646C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431860G>C | CA485626274 | MYH7 | c.540C>G (p.Ser180=) n.646C>G | |
| 14 | g.23431860G= | CA2123452872 | MYH7 | c.540C= (p.Ser180=) n.646C= | |
| 14 | g.23431860G>T | CA016093 | MYH7 | c.540C>A (p.Ser180=) n.646C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431861G>A | CA389052586 | MYH7 | c.539C>T (p.Ser180Phe) n.645C>T | |
| 14 | g.23431861G>C | CA389052587 | MYH7 | c.539C>G (p.Ser180Cys) n.645C>G | |
| 14 | g.23431861G= | CA2123452880 | MYH7 | c.539C= (p.Ser180=) n.645C= | |
| 14 | g.23431861G>T | CA389052588 | MYH7 | c.539C>A (p.Ser180Tyr) n.645C>A | |
| 14 | g.23431862A= | CA2123452887 | MYH7 | c.538T= (p.Ser180=) n.644T= | |
| 14 | g.23431862A>C | CA389052589 | MYH7 | c.538T>G (p.Ser180Ala) n.644T>G | |
| 14 | g.23431862A>G | CA389052590 | MYH7 | c.538T>C (p.Ser180Pro) n.644T>C | |
| 14 | g.23431862A>T | CA389052591 | MYH7 | c.538T>A (p.Ser180Thr) n.644T>A | ClinVar dbSNP |
| 14 | g.23431862_23431867dup | CA2123452885 | MYH7 | c.533_538dup (p.Ser180Ter) n.639_644dup | ClinVar dbSNP |
| 14 | g.23431862_23431863insAGC | CA046618 | MYH7 | c.537_538insGCT (p.Glu179_Ser180insAla) n.643_644insGCT | dbSNP ExAC |
| 14 | g.23431863T>A | CA389052592 | MYH7 | c.537A>T (p.Glu179Asp) n.643A>T | |
| 14 | g.23431863T>C | CA485626275 | MYH7 | c.537A>G (p.Glu179=) n.643A>G | |
| 14 | g.23431863T>G | CA389052593 | MYH7 | c.537A>C (p.Glu179Asp) n.643A>C | |
| 14 | g.23431863T= | CA2123452897 | MYH7 | c.537A= (p.Glu179=) n.643A= | |
| 14 | g.23431864T>A | CA389052594 | MYH7 | c.536A>T (p.Glu179Val) n.642A>T | |
| 14 | g.23431864T>C | CA389052595 | MYH7 | c.536A>G (p.Glu179Gly) n.642A>G | |
| 14 | g.23431864T>G | CA351836 | MYH7 | c.536A>C (p.Glu179Ala) n.642A>C | ClinVar dbSNP |
| 14 | g.23431864T= | CA2123452904 | MYH7 | c.536A= (p.Glu179=) n.642A= | |
| 14 | g.23431864_23431865insAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGT | CA046585 | MYH7 | c.536_537insCATAGAGACCTGTGAGTGCCATGAATCTGCTAGGCTCAGCCTA (p.Glu179AspfsTer?) n.642_643insCATAGAGACCTGTGAGTGCCATGAATCTGCTAGGCTCAGCCTA | dbSNP ExAC |
| 14 | g.23431865C>A | CA389052598 | MYH7 | c.535G>T (p.Glu179Ter) n.641G>T | |
| 14 | g.23431865C= | CA2123452910 | MYH7 | c.535G= (p.Glu179=) n.641G= | |
| 14 | g.23431865C>G | CA389052596 | MYH7 | c.535G>C (p.Glu179Gln) n.641G>C | dbSNP |
| 14 | g.23431865C>T | CA389052597 | MYH7 | c.535G>A (p.Glu179Lys) n.641G>A | ClinVar dbSNP |
| 14 | g.23431865_23431866delinsCT | CA2123452912 | MYH7 | c.534_535delinsAG (p.Gly178=) n.640_641delinsAG | |
| 14 | g.23431866del | CA2123452918 | MYH7 | c.534del (p.Glu179AsnfsTer?) n.640del | dbSNP |
| 14 | g.23431866T>A | CA485626278 | MYH7 | c.534A>T (p.Gly178=) n.640A>T | |
| 14 | g.23431866T>C | CA485626277 | MYH7 | c.534A>G (p.Gly178=) n.640A>G | |
| 14 | g.23431866T>G | CA485626276 | MYH7 | c.534A>C (p.Gly178=) n.640A>C | |
| 14 | g.23431867C>A | CA389052599 | MYH7 | c.533G>T (p.Gly178Val) n.639G>T | |
| 14 | g.23431867C>G | CA389052600 | MYH7 | c.533G>C (p.Gly178Ala) n.639G>C | |
| 14 | g.23431867C>T | CA389052601 | MYH7 | c.533G>A (p.Gly178Glu) n.639G>A | COSMIC |
| 14 | g.23431868C>A | CA389052602 | MYH7 | c.532G>T (p.Gly178Ter) n.638G>T | |
| 14 | g.23431868C= | CA2123452929 | MYH7 | c.532G= (p.Gly178=) n.638G= | |
| 14 | g.23431868C>G | CA389052603 | MYH7 | c.532G>C (p.Gly178Arg) n.638G>C | ClinVar dbSNP |
| 14 | g.23431868C>T | CA015959 | MYH7 | c.532G>A (p.Gly178Arg) n.638G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23431868_23431872delinsCGCTG | CA2123452927 | MYH7 | c.531-3_532delinsCAGCG n.637-3_638delinsCAGCG | |
| 14 | g.23431869G>A | CA046473 | MYH7 | c.531C>T (p.Thr177=) n.637C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431869G>C | CA485626279 | MYH7 | c.531C>G (p.Thr177=) n.637C>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431869G= | CA2123452951 | MYH7 | c.531C= (p.Thr177=) n.637C= | |
| 14 | g.23431869G>T | CA257826107 | MYH7 | c.531C>A (p.Thr177=) n.637C>A | ClinVar dbSNP |
| 14 | g.23431869_23431872del | CA132072 | MYH7 | c.531-3_531del n.637-3_637del | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431870C>A | CA389052604 | MYH7 | c.531-1G>T (n.531-1G>T) n.637-1G>T | |
| 14 | g.23431870C= | CA2123452963 | MYH7 | c.531-1G= (n.531-1G=) n.637-1G= | |
| 14 | g.23431870C>G | CA257826110 | MYH7 | c.531-1G>C (n.531-1G>C) n.637-1G>C | dbSNP |
| 14 | g.23431870C>T | CA389052605 | MYH7 | c.531-1G>A (n.531-1G>A) n.637-1G>A | gnomAD v4 |
| 14 | g.23431871T>A | CA389052608 | MYH7 | c.531-2A>T (n.531-2A>T) n.637-2A>T | |
| 14 | g.23431871T>C | CA389052607 | MYH7 | c.531-2A>G (n.531-2A>G) n.637-2A>G | ClinVar dbSNP |
| 14 | g.23431871T>G | CA389052606 | MYH7 | c.531-2A>C (n.531-2A>C) n.637-2A>C | |
| 14 | g.23431873T>C | CA2695195455 | MYH7 | c.531-4A>G (n.531-4A>G) n.637-4A>G | |
| 14 | g.23431874G>A | CA015931 | MYH7 | c.531-5C>T (n.531-5C>T) n.637-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431874G= | CA2123452968 | MYH7 | c.531-5C= (n.531-5C=) n.637-5C= | |
| 14 | g.23431876A= | CA2123452978 | MYH7 | c.531-7T= (n.531-7T=) n.637-7T= | |
| 14 | g.23431876A>G | CA1139663381 | MYH7 | c.531-7T>C (n.531-7T>C) n.637-7T>C | ClinVar dbSNP |
| 14 | g.23431878_23431883del | CA2580088030 | MYH7 | c.531-13_531-8del (n.531-13_531-8del) n.637-13_637-8del | ClinVar |
| 14 | g.23431878_23431893del | CA046330 | MYH7 | c.531-23_531-8del (n.531-23_531-8del) n.637-23_637-8del | |
| 14 | g.23431878A= | CA2123452988 | MYH7 | c.531-9T= (n.531-9T=) n.637-9T= | |
| 14 | g.23431878A>G | CA7116310 | MYH7 | c.531-9T>C (n.531-9T>C) n.637-9T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431878_23431893delinsACAGGGGCTTATTGGG | CA2123452987 | MYH7 | c.531-24_531-9delinsCCCAATAAGCCCCTGT (n.531-24_531-9delinsCCCAATAAGCCCCTGT) n.637-24_637-9delinsCCCAATAAGCCCCTGT | |
| 14 | g.23431882_23431896del | CA7116309 | MYH7 | c.531-24_531-10del (n.531-24_531-10del) n.637-24_637-10del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431880A>C | CA2624251784 | MYH7 | c.531-11T>G (n.531-11T>G) n.637-11T>G | gnomAD v4 |
| 14 | g.23431880A>T | CA655776053 | MYH7 | c.531-11T>A (n.531-11T>A) n.637-11T>A | COSMIC |
| 14 | g.23431880_23431881del | CA2740097720 | MYH7 | c.531-12_531-11del (n.531-12_531-11del) n.637-12_637-11del | ClinVar |
| 14 | g.23431881G>C | CA257826118 | MYH7 | c.531-12C>G (n.531-12C>G) n.637-12C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431881G= | CA2123452991 | MYH7 | c.531-12C= (n.531-12C=) n.637-12C= | |
| 14 | g.23431883G>A | CA046307 | MYH7 | c.531-14C>T (n.531-14C>T) n.637-14C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431883G= | CA2123452995 | MYH7 | c.531-14C= (n.531-14C=) n.637-14C= | |
| 14 | g.23431884G= | CA2123453000 | MYH7 | c.531-15C= (n.531-15C=) n.637-15C= | |
| 14 | g.23431884G>T | CA046322 | MYH7 | c.531-15C>A (n.531-15C>A) n.637-15C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431885del | CA2624251790 | MYH7 | c.531-16del (n.531-16del) n.637-16del | gnomAD v4 |
| 14 | g.23431885C>T | CA2580088031 | MYH7 | c.531-16G>A (n.531-16G>A) n.637-16G>A | ClinVar gnomAD v4 |
| 14 | g.23431887T>C | CA2624251793 | MYH7 | c.531-18A>G (n.531-18A>G) n.637-18A>G | gnomAD v4 |
| 14 | g.23431889T>C | CA612938413 | MYH7 | c.531-20A>G (n.531-20A>G) n.637-20A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431889T= | CA2123453001 | MYH7 | c.531-20A= (n.531-20A=) n.637-20A= | |
| 14 | g.23431890T>A | CA2729048187 | MYH7 | c.531-21A>T (n.531-21A>T) n.637-21A>T | dbSNP |
| 14 | g.23431892G>T | CA2624251795 | MYH7 | c.531-23C>A (n.531-23C>A) n.637-23C>A | gnomAD v4 |
| 14 | g.23431893G>A | CA2624251797 | MYH7 | c.531-24C>T (n.531-24C>T) n.637-24C>T | gnomAD v4 |
| 14 | g.23431893G>T | CA2624251798 | MYH7 | c.531-24C>A (n.531-24C>A) n.637-24C>A | gnomAD v4 |
| 14 | g.23431894C>T | CA2575486879 | MYH7 | c.531-25G>A (n.531-25G>A) n.637-25G>A | |
| 14 | g.23431896G>A | CA046364 | MYH7 | c.531-27C>T (n.531-27C>T) n.637-27C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431896G>C | CA046355 | MYH7 | c.531-27C>G (n.531-27C>G) n.637-27C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431896G= | CA2123453002 | MYH7 | c.531-27C= (n.531-27C=) n.637-27C= | |
| 14 | g.23431896G>T | CA015922 | MYH7 | c.531-27C>A (n.531-27C>A) n.637-27C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431898G>A | CA2624251805 | MYH7 | c.531-29C>T (n.531-29C>T) n.637-29C>T | gnomAD v4 |
| 14 | g.23431898G>T | CA2624251807 | MYH7 | c.531-29C>A (n.531-29C>A) n.637-29C>A | gnomAD v4 |