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.23432663T>A | CA389052736 | MYH7 | c.478A>T (p.Asn160Tyr) n.584A>T | |
| 14 | g.23432663T>C | CA389052737 | MYH7 | c.478A>G (p.Asn160Asp) n.584A>G | |
| 14 | g.23432663T>G | CA389052738 | MYH7 | c.478A>C (p.Asn160His) n.584A>C | |
| 14 | g.23432664G>A | CA485626415 | MYH7 | c.477C>T (p.Asp159=) n.583C>T | |
| 14 | g.23432664G>C | CA389052739 | MYH7 | c.477C>G (p.Asp159Glu) n.583C>G | |
| 14 | g.23432664G>T | CA389052740 | MYH7 | c.477C>A (p.Asp159Glu) n.583C>A | |
| 14 | g.23432665T>A | CA389052741 | MYH7 | c.476A>T (p.Asp159Val) n.582A>T | |
| 14 | g.23432665T>C | CA389052742 | MYH7 | c.476A>G (p.Asp159Gly) n.582A>G | |
| 14 | g.23432665T>G | CA389052743 | MYH7 | c.476A>C (p.Asp159Ala) n.582A>C | |
| 14 | g.23432666C>A | CA389052745 | MYH7 | c.475G>T (p.Asp159Tyr) n.581G>T | |
| 14 | g.23432666C= | CA2123454044 | MYH7 | c.475G= (p.Asp159=) n.581G= | |
| 14 | g.23432666C>G | CA015284 | MYH7 | c.475G>C (p.Asp159His) n.581G>C | ClinVar dbSNP |
| 14 | g.23432666C>T | CA389052744 | MYH7 | c.475G>A (p.Asp159Asn) n.581G>A | ClinVar dbSNP |
| 14 | g.23432667G>A | CA015274 | MYH7 | c.474C>T (p.Ser158=) n.580C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432667G>C | CA043748 | MYH7 | c.474C>G (p.Ser158=) n.580C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432667G= | CA2123454054 | MYH7 | c.474C= (p.Ser158=) n.580C= | |
| 14 | g.23432667G>T | CA485626416 | MYH7 | c.474C>A (p.Ser158=) n.580C>A | |
| 14 | g.23432668del | CA2580088033 | MYH7 | c.474del (p.Asp159ThrfsTer8) n.580del | ClinVar |
| 14 | g.23432668G>A | CA389052746 | MYH7 | c.473C>T (p.Ser158Phe) n.579C>T | |
| 14 | g.23432668G>C | CA389052747 | MYH7 | c.473C>G (p.Ser158Cys) n.579C>G | |
| 14 | g.23432668G>T | CA389052748 | MYH7 | c.473C>A (p.Ser158Tyr) n.579C>A | |
| 14 | g.23432669A>C | CA389052749 | MYH7 | c.472T>G (p.Ser158Ala) n.578T>G | ClinVar |
| 14 | g.23432669A>G | CA389052750 | MYH7 | c.472T>C (p.Ser158Pro) n.578T>C | |
| 14 | g.23432669A>T | CA389052751 | MYH7 | c.472T>A (p.Ser158Thr) n.578T>A | |
| 14 | g.23432670G>A | CA485626417 | MYH7 | c.471C>T (p.Ile157=) n.577C>T | gnomAD v4 |
| 14 | g.23432670G>C | CA389052752 | MYH7 | c.471C>G (p.Ile157Met) n.577C>G | |
| 14 | g.23432670G>T | CA485626420 | MYH7 | c.471C>A (p.Ile157=) n.577C>A | |
| 14 | g.23432671A>C | CA389052753 | MYH7 | c.470T>G (p.Ile157Ser) n.576T>G | |
| 14 | g.23432671A>G | CA389052754 | MYH7 | c.470T>C (p.Ile157Thr) n.576T>C | |
| 14 | g.23432671A>T | CA389052755 | MYH7 | c.470T>A (p.Ile157Asn) n.576T>A | |
| 14 | g.23432672T>A | CA389052756 | MYH7 | c.469A>T (p.Ile157Phe) n.575A>T | gnomAD v4 |
| 14 | g.23432672T>C | CA389052757 | MYH7 | c.469A>G (p.Ile157Val) n.575A>G | gnomAD v4 |
| 14 | g.23432672T>G | CA389052758 | MYH7 | c.469A>C (p.Ile157Leu) n.575A>C | gnomAD v4 |
| 14 | g.23432673G>A | CA485626425 | MYH7 | c.468C>T (p.Ser156=) n.574C>T | COSMIC |
| 14 | g.23432673G>C | CA485626423 | MYH7 | c.468C>G (p.Ser156=) n.574C>G | gnomAD v4 |
| 14 | g.23432673G>T | CA485626422 | MYH7 | c.468C>A (p.Ser156=) n.574C>A | |
| 14 | g.23432674G>A | CA389052760 | MYH7 | c.467C>T (p.Ser156Phe) n.573C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432674G>C | CA389052761 | MYH7 | c.467C>G (p.Ser156Cys) n.573C>G | gnomAD v4 |
| 14 | g.23432674G= | CA2123454058 | MYH7 | c.467C= (p.Ser156=) n.573C= | |
| 14 | g.23432674G>T | CA389052759 | MYH7 | c.467C>A (p.Ser156Tyr) n.573C>A | |
| 14 | g.23432675A>C | CA389052762 | MYH7 | c.466T>G (p.Ser156Ala) n.572T>G | |
| 14 | g.23432675A>G | CA389052763 | MYH7 | c.466T>C (p.Ser156Pro) n.572T>C | |
| 14 | g.23432675A>T | CA389052764 | MYH7 | c.466T>A (p.Ser156Thr) n.572T>A | |
| 14 | g.23432678_23432680del | CA2580616568 | MYH7 | c.464_466del (p.Phe155del) n.570_572del | ClinVar |
| 14 | g.23432676G>A | CA485626429 | MYH7 | c.465C>T (p.Phe155=) n.571C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432676G>C | CA389052765 | MYH7 | c.465C>G (p.Phe155Leu) n.571C>G | |
| 14 | g.23432676G= | CA2123454066 | MYH7 | c.465C= (p.Phe155=) n.571C= | |
| 14 | g.23432676G>T | CA043424 | MYH7 | c.465C>A (p.Phe155Leu) n.571C>A | dbSNP ExAC gnomAD v4 |
| 14 | g.23432677A>C | CA389052766 | MYH7 | c.464T>G (p.Phe155Cys) n.570T>G | |
| 14 | g.23432677A>G | CA389052767 | MYH7 | c.464T>C (p.Phe155Ser) n.570T>C | |
| 14 | g.23432677A>T | CA389052768 | MYH7 | c.464T>A (p.Phe155Tyr) n.570T>A | |
| 14 | g.23432678A>C | CA389052769 | MYH7 | c.463T>G (p.Phe155Val) n.569T>G | |
| 14 | g.23432678A>G | CA389052770 | MYH7 | c.463T>C (p.Phe155Leu) n.569T>C | gnomAD v4 |
| 14 | g.23432678A>T | CA389052771 | MYH7 | c.463T>A (p.Phe155Ile) n.569T>A | |
| 14 | g.23432678_23432719del | CA2624252269 | MYH7 | c.422_463del (p.Ala141_Phe155delinsVal) n.528_569del | gnomAD v4 |
| 14 | g.23432679G>A | CA485626431 | MYH7 | c.462C>T (p.Ile154=) n.568C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432679G>C | CA389052772 | MYH7 | c.462C>G (p.Ile154Met) n.568C>G | |
| 14 | g.23432679G= | CA2123454067 | MYH7 | c.462C= (p.Ile154=) n.568C= | |
| 14 | g.23432679G>T | CA485626432 | MYH7 | c.462C>A (p.Ile154=) n.568C>A | ClinVar dbSNP |
| 14 | g.23432680A= | CA2123454070 | MYH7 | c.461T= (p.Ile154=) n.567T= | |
| 14 | g.23432680A>C | CA389052774 | MYH7 | c.461T>G (p.Ile154Ser) n.567T>G | |
| 14 | g.23432680A>G | CA389052775 | MYH7 | c.461T>C (p.Ile154Thr) n.567T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432680A>T | CA389052773 | MYH7 | c.461T>A (p.Ile154Asn) n.567T>A | |
| 14 | g.23432681T>A | CA389052776 | MYH7 | c.460A>T (p.Ile154Phe) n.566A>T | |
| 14 | g.23432681T>C | CA015148 | MYH7 | c.460A>G (p.Ile154Val) n.566A>G | ClinVar dbSNP |
| 14 | g.23432681T>G | CA389052777 | MYH7 | c.460A>C (p.Ile154Leu) n.566A>C | |
| 14 | g.23432681T= | CA2123454078 | MYH7 | c.460A= (p.Ile154=) n.566A= | |
| 14 | g.23432682G>A | CA485626435 | MYH7 | c.459C>T (p.His153=) n.565C>T | |
| 14 | g.23432682G>C | CA389052778 | MYH7 | c.459C>G (p.His153Gln) n.565C>G | |
| 14 | g.23432682G>T | CA389052779 | MYH7 | c.459C>A (p.His153Gln) n.565C>A | |
| 14 | g.23432683T>A | CA389052782 | MYH7 | c.458A>T (p.His153Leu) n.564A>T | |
| 14 | g.23432683T>C | CA389052780 | MYH7 | c.458A>G (p.His153Arg) n.564A>G | |
| 14 | g.23432683T>G | CA389052781 | MYH7 | c.458A>C (p.His153Pro) n.564A>C | |
| 14 | g.23432683_23432684delinsTG | CA2123454083 | MYH7 | c.457_458delinsCA (p.His153=) n.563_564delinsCA | |
| 14 | g.23432684G>A | CA389052783 | MYH7 | c.457C>T (p.His153Tyr) n.563C>T | ClinVar |
| 14 | g.23432684G>C | CA389052784 | MYH7 | c.457C>G (p.His153Asp) n.563C>G | |
| 14 | g.23432684G>T | CA389052785 | MYH7 | c.457C>A (p.His153Asn) n.563C>A | |
| 14 | g.23432687del | CA015125 | MYH7 | c.457del (p.His153ThrfsTer14) n.563del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23432685G>A | CA485626440 | MYH7 | c.456C>T (p.Pro152=) n.562C>T | |
| 14 | g.23432685G>C | CA042929 | MYH7 | c.456C>G (p.Pro152=) n.562C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432685G= | CA2123454091 | MYH7 | c.456C= (p.Pro152=) n.562C= | |
| 14 | g.23432685G>T | CA485626439 | MYH7 | c.456C>A (p.Pro152=) n.562C>A | |
| 14 | g.23432686G>A | CA389052786 | MYH7 | c.455C>T (p.Pro152Leu) n.561C>T | |
| 14 | g.23432686G>C | CA389052788 | MYH7 | c.455C>G (p.Pro152Arg) n.561C>G | |
| 14 | g.23432686G>T | CA389052787 | MYH7 | c.455C>A (p.Pro152His) n.561C>A | |
| 14 | g.23432687G>A | CA389052789 | MYH7 | c.454C>T (p.Pro152Ser) n.560C>T | gnomAD v4 |
| 14 | g.23432687G>C | CA389052791 | MYH7 | c.454C>G (p.Pro152Ala) n.560C>G | |
| 14 | g.23432687G>T | CA389052790 | MYH7 | c.454C>A (p.Pro152Thr) n.560C>A | |
| 14 | g.23432688C>A | CA042837 | MYH7 | c.453G>T (p.Pro151=) n.559G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432688C= | CA2123454099 | MYH7 | c.453G= (p.Pro151=) n.559G= | |
| 14 | g.23432688C>G | CA485626444 | MYH7 | c.453G>C (p.Pro151=) n.559G>C | |
| 14 | g.23432688C>T | CA042823 | MYH7 | c.453G>A (p.Pro151=) n.559G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432689G>A | CA015084 | MYH7 | c.452C>T (p.Pro151Leu) n.558C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432689G>C | CA389052792 | MYH7 | c.452C>G (p.Pro151Arg) n.558C>G | |
| 14 | g.23432689G= | CA2123454108 | MYH7 | c.452C= (p.Pro151=) n.558C= | |
| 14 | g.23432689G>T | CA389052793 | MYH7 | c.452C>A (p.Pro151Gln) n.558C>A | |
| 14 | g.23432690G>A | CA389052794 | MYH7 | c.451C>T (p.Pro151Ser) n.557C>T | ClinVar |
| 14 | g.23432690G>C | CA389052795 | MYH7 | c.451C>G (p.Pro151Ala) n.557C>G | |
| 14 | g.23432690G>T | CA389052796 | MYH7 | c.451C>A (p.Pro151Thr) n.557C>A | gnomAD v4 |
| 14 | g.23432691G>A | CA042471 | MYH7 | c.450C>T (p.Ala150=) n.556C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432691G>C | CA485626447 | MYH7 | c.450C>G (p.Ala150=) n.556C>G | |
| 14 | g.23432691G= | CA2123454114 | MYH7 | c.450C= (p.Ala150=) n.556C= | |
| 14 | g.23432691G>T | CA485626448 | MYH7 | c.450C>A (p.Ala150=) n.556C>A | |
| 14 | g.23432692G>A | CA389052797 | MYH7 | c.449C>T (p.Ala150Val) n.555C>T | gnomAD v4 |
| 14 | g.23432692G>C | CA10645076 | MYH7 | c.449C>G (p.Ala150Gly) n.555C>G | ClinVar dbSNP |
| 14 | g.23432692G= | CA2123454120 | MYH7 | c.449C= (p.Ala150=) n.555C= | |
| 14 | g.23432692G>T | CA389052798 | MYH7 | c.449C>A (p.Ala150Asp) n.555C>A | gnomAD v4 |
| 14 | g.23432693C>A | CA389052801 | MYH7 | c.448G>T (p.Ala150Ser) n.554G>T | |
| 14 | g.23432693C= | CA2123454125 | MYH7 | c.448G= (p.Ala150=) n.554G= | |
| 14 | g.23432693C>G | CA389052799 | MYH7 | c.448G>C (p.Ala150Pro) n.554G>C | |
| 14 | g.23432693C>T | CA389052800 | MYH7 | c.448G>A (p.Ala150Thr) n.554G>A | ClinVar dbSNP |
| 14 | g.23432694C>A | CA389052802 | MYH7 | c.447G>T (p.Glu149Asp) n.553G>T | |
| 14 | g.23432694C= | CA2123454130 | MYH7 | c.447G= (p.Glu149=) n.553G= | |
| 14 | g.23432694C>G | CA389052803 | MYH7 | c.447G>C (p.Glu149Asp) n.553G>C | |
| 14 | g.23432694C>T | CA485626450 | MYH7 | c.447G>A (p.Glu149=) n.553G>A | ClinVar dbSNP |
| 14 | g.23432695T>A | CA389052804 | MYH7 | c.446A>T (p.Glu149Val) n.552A>T | |
| 14 | g.23432695T>C | CA389052805 | MYH7 | c.446A>G (p.Glu149Gly) n.552A>G | |
| 14 | g.23432695T>G | CA389052806 | MYH7 | c.446A>C (p.Glu149Ala) n.552A>C | |
| 14 | g.23432696C>A | CA389052807 | MYH7 | c.445G>T (p.Glu149Ter) n.551G>T | |
| 14 | g.23432696C= | CA2123454139 | MYH7 | c.445G= (p.Glu149=) n.551G= | |
| 14 | g.23432696C>G | CA389052808 | MYH7 | c.445G>C (p.Glu149Gln) n.551G>C | |
| 14 | g.23432696C>T | CA042340 | MYH7 | c.445G>A (p.Glu149Lys) n.551G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432697G>A | CA042293 | MYH7 | c.444C>T (p.Ser148=) n.550C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432697G>C | CA16606540 | MYH7 | c.444C>G (p.Ser148Arg) n.550C>G | ClinVar dbSNP |
| 14 | g.23432697G= | CA2123454144 | MYH7 | c.444C= (p.Ser148=) n.550C= | |
| 14 | g.23432697G>T | CA389052809 | MYH7 | c.444C>A (p.Ser148Arg) n.550C>A | ClinVar dbSNP |
| 14 | g.23432698C>A | CA042268 | MYH7 | c.443G>T (p.Ser148Ile) n.549G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432698C= | CA2123454152 | MYH7 | c.443G= (p.Ser148=) n.549G= | |
| 14 | g.23432698C>G | CA389052811 | MYH7 | c.443G>C (p.Ser148Thr) n.549G>C | |
| 14 | g.23432698C>T | CA389052810 | MYH7 | c.443G>A (p.Ser148Asn) n.549G>A | COSMIC |
| 14 | g.23432699T>A | CA389052812 | MYH7 | c.442A>T (p.Ser148Cys) n.548A>T | |
| 14 | g.23432699T>C | CA042238 | MYH7 | c.442A>G (p.Ser148Gly) n.548A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432699T>G | CA014971 | MYH7 | c.442A>C (p.Ser148Arg) n.548A>C | ClinVar dbSNP |
| 14 | g.23432699T= | CA2123454158 | MYH7 | c.442A= (p.Ser148=) n.548A= | |
| 14 | g.23432700C>A | CA389052813 | MYH7 | c.441G>T (p.Arg147Ser) n.547G>T | |
| 14 | g.23432700C= | CA2123454167 | MYH7 | c.441G= (p.Arg147=) n.547G= | |
| 14 | g.23432700C>G | CA389052814 | MYH7 | c.441G>C (p.Arg147Ser) n.547G>C | ClinVar dbSNP |
| 14 | g.23432700C>T | CA485626457 | MYH7 | c.441G>A (p.Arg147=) n.547G>A | |
| 14 | g.23432701C>A | CA389052815 | MYH7 | c.440G>T (p.Arg147Met) n.546G>T | |
| 14 | g.23432701C= | CA2123454170 | MYH7 | c.440G= (p.Arg147=) n.546G= | |
| 14 | g.23432701C>G | CA389052816 | MYH7 | c.440G>C (p.Arg147Thr) n.546G>C | |
| 14 | g.23432701C>T | CA389052817 | MYH7 | c.440G>A (p.Arg147Lys) n.546G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432702T>A | CA389052818 | MYH7 | c.439A>T (p.Arg147Trp) n.545A>T | |
| 14 | g.23432702T>C | CA389052819 | MYH7 | c.439A>G (p.Arg147Gly) n.545A>G | ClinVar |
| 14 | g.23432702T>G | CA485626461 | MYH7 | c.439A>C (p.Arg147=) n.545A>C | |
| 14 | g.23432703C>A | CA014924 | MYH7 | c.438G>T (p.Lys146Asn) n.544G>T | ClinVar dbSNP |
| 14 | g.23432703C= | CA2123454176 | MYH7 | c.438G= (p.Lys146=) n.544G= | |
| 14 | g.23432703C>G | CA389052820 | MYH7 | c.438G>C (p.Lys146Asn) n.544G>C | gnomAD v4 |
| 14 | g.23432703C>T | CA16606543 | MYH7 | c.438G>A (p.Lys146=) n.544G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432704T>A | CA014914 | MYH7 | c.437A>T (p.Lys146Met) n.543A>T | dbSNP |
| 14 | g.23432704T>C | CA389052821 | MYH7 | c.437A>G (p.Lys146Arg) n.543A>G | |
| 14 | g.23432704T>G | CA014910 | MYH7 | c.437A>C (p.Lys146Thr) n.543A>C | dbSNP |
| 14 | g.23432704T= | CA2123454188 | MYH7 | c.437A= (p.Lys146=) n.543A= | |
| 14 | g.23432705T>A | CA389052822 | MYH7 | c.436A>T (p.Lys146Ter) n.542A>T | |
| 14 | g.23432705T>C | CA389052823 | MYH7 | c.436A>G (p.Lys146Glu) n.542A>G | |
| 14 | g.23432705T>G | CA389052824 | MYH7 | c.436A>C (p.Lys146Gln) n.542A>C | |
| 14 | g.23432706C>A | CA389052825 | MYH7 | c.435G>T (p.Lys145Asn) n.541G>T | |
| 14 | g.23432706C>G | CA389052826 | MYH7 | c.435G>C (p.Lys145Asn) n.541G>C | |
| 14 | g.23432706C>T | CA485626465 | MYH7 | c.435G>A (p.Lys145=) n.541G>A | |
| 14 | g.23432707T>A | CA389052827 | MYH7 | c.434A>T (p.Lys145Met) n.540A>T | |
| 14 | g.23432707T>C | CA389052828 | MYH7 | c.434A>G (p.Lys145Arg) n.540A>G | |
| 14 | g.23432707T>G | CA389052829 | MYH7 | c.434A>C (p.Lys145Thr) n.540A>C | |
| 14 | g.23432708T>A | CA389052830 | MYH7 | c.433A>T (p.Lys145Ter) n.539A>T | |
| 14 | g.23432708T>C | CA389052831 | MYH7 | c.433A>G (p.Lys145Glu) n.539A>G | ClinVar |
| 14 | g.23432708T>G | CA389052832 | MYH7 | c.433A>C (p.Lys145Gln) n.539A>C | |
| 14 | g.23432709G>A | CA485626466 | MYH7 | c.432C>T (p.Gly144=) n.538C>T | |
| 14 | g.23432709G>C | CA485626467 | MYH7 | c.432C>G (p.Gly144=) n.538C>G | |
| 14 | g.23432709G= | CA2123454191 | MYH7 | c.432C= (p.Gly144=) n.538C= | |
| 14 | g.23432709G>T | CA041650 | MYH7 | c.432C>A (p.Gly144=) n.538C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432710C>A | CA389052833 | MYH7 | c.431G>T (p.Gly144Val) n.537G>T | ClinVar dbSNP |
| 14 | g.23432710C= | CA2123454194 | MYH7 | c.431G= (p.Gly144=) n.537G= | |
| 14 | g.23432710C>G | CA389052834 | MYH7 | c.431G>C (p.Gly144Ala) n.537G>C | |
| 14 | g.23432710C>T | CA014800 | MYH7 | c.431G>A (p.Gly144Asp) n.537G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432713del | CA2624252280 | MYH7 | c.431del (p.Gly144AlafsTer23) n.537del | gnomAD v4 |
| 14 | g.23432711C>A | CA389052835 | MYH7 | c.430G>T (p.Gly144Cys) n.536G>T | ClinVar |
| 14 | g.23432711C= | CA2123454200 | MYH7 | c.430G= (p.Gly144=) n.536G= | |
| 14 | g.23432711C>G | CA389052836 | MYH7 | c.430G>C (p.Gly144Arg) n.536G>C | |
| 14 | g.23432711C>T | CA257826579 | MYH7 | c.430G>A (p.Gly144Ser) n.536G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432712C>A | CA485626470 | MYH7 | c.429G>T (p.Arg143=) n.535G>T | |
| 14 | g.23432712C= | CA2123454211 | MYH7 | c.429G= (p.Arg143=) n.535G= | |
| 14 | g.23432712C>G | CA485626471 | MYH7 | c.429G>C (p.Arg143=) n.535G>C | |
| 14 | g.23432712C>T | CA485626472 | MYH7 | c.429G>A (p.Arg143=) n.535G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23432713C>A | CA389052837 | MYH7 | c.428G>T (p.Arg143Leu) n.534G>T | ClinVar dbSNP |
| 14 | g.23432713C= | CA2123454220 | MYH7 | c.428G= (p.Arg143=) n.534G= | |
| 14 | g.23432713C>G | CA389052838 | MYH7 | c.428G>C (p.Arg143Pro) n.534G>C | ClinVar dbSNP |
| 14 | g.23432713C>T | CA014774 | MYH7 | c.428G>A (p.Arg143Gln) n.534G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432713_23432714delinsCG | CA2123454222 | MYH7 | c.427_428delinsCG (p.Arg143=) n.533_534delinsCG | |
| 14 | g.23432714G>A | CA014751 | MYH7 | c.427C>T (p.Arg143Trp) n.533C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432714G>C | CA257826585 | MYH7 | c.427C>G (p.Arg143Gly) n.533C>G | ClinVar dbSNP |
| 14 | g.23432714G= | CA2123454234 | MYH7 | c.427C= (p.Arg143=) n.533C= | |
| 14 | g.23432714G>T | CA485626473 | MYH7 | c.427C>A (p.Arg143=) n.533C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432715del | CA913188631 | MYH7 | c.427del (p.Arg143GlyfsTer24) n.533del | ClinVar dbSNP |
| 14 | g.23432715G>A | CA485626474 | MYH7 | c.426C>T (p.Tyr142=) n.532C>T | gnomAD v4 |
| 14 | g.23432715G>C | CA389052839 | MYH7 | c.426C>G (p.Tyr142Ter) n.532C>G | |
| 14 | g.23432715G>T | CA389052840 | MYH7 | c.426C>A (p.Tyr142Ter) n.532C>A | |
| 14 | g.23432716T>A | CA389052841 | MYH7 | c.425A>T (p.Tyr142Phe) n.531A>T | |
| 14 | g.23432716T>C | CA389052842 | MYH7 | c.425A>G (p.Tyr142Cys) n.531A>G | ClinVar |
| 14 | g.23432716T>G | CA389052843 | MYH7 | c.425A>C (p.Tyr142Ser) n.531A>C | |
| 14 | g.23432717A>C | CA389052844 | MYH7 | c.424T>G (p.Tyr142Asp) n.530T>G | |
| 14 | g.23432717A>G | CA389052845 | MYH7 | c.424T>C (p.Tyr142His) n.530T>C | |
| 14 | g.23432717A>T | CA389052846 | MYH7 | c.424T>A (p.Tyr142Asn) n.530T>A | |
| 14 | g.23432718G>A | CA485626476 | MYH7 | c.423C>T (p.Ala141=) n.529C>T | |
| 14 | g.23432718G>C | CA485626475 | MYH7 | c.423C>G (p.Ala141=) n.529C>G | |
| 14 | g.23432718G= | CA2123454236 | MYH7 | c.423C= (p.Ala141=) n.529C= | |
| 14 | g.23432718G>T | CA041366 | MYH7 | c.423C>A (p.Ala141=) n.529C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432719G>A | CA389052847 | MYH7 | c.422C>T (p.Ala141Val) n.528C>T | |
| 14 | g.23432719G>C | CA389052848 | MYH7 | c.422C>G (p.Ala141Gly) n.528C>G | |
| 14 | g.23432719G>T | CA389052849 | MYH7 | c.422C>A (p.Ala141Asp) n.528C>A | |
| 14 | g.23432720C>A | CA389052850 | MYH7 | c.421G>T (p.Ala141Ser) n.527G>T | |
| 14 | g.23432720C>G | CA389052851 | MYH7 | c.421G>C (p.Ala141Pro) n.527G>C | |
| 14 | g.23432720C>T | CA389052852 | MYH7 | c.421G>A (p.Ala141Thr) n.527G>A | |
| 14 | g.23432721A= | CA2123454240 | MYH7 | c.420T= (p.Ala140=) n.526T= | |
| 14 | g.23432721A>C | CA485626477 | MYH7 | c.420T>G (p.Ala140=) n.526T>G | |
| 14 | g.23432721A>G | CA485626479 | MYH7 | c.420T>C (p.Ala140=) n.526T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432721A>T | CA485626478 | MYH7 | c.420T>A (p.Ala140=) n.526T>A | |
| 14 | g.23432722G>A | CA389052853 | MYH7 | c.419C>T (p.Ala140Val) n.525C>T | |
| 14 | g.23432722G>C | CA389052854 | MYH7 | c.419C>G (p.Ala140Gly) n.525C>G | |
| 14 | g.23432722G>T | CA389052855 | MYH7 | c.419C>A (p.Ala140Asp) n.525C>A | |
| 14 | g.23432722_23432724del | CA2624252282 | MYH7 | c.417_419del (p.Ala140del) n.523_525del | gnomAD v4 |
| 14 | g.23432723C>A | CA389052856 | MYH7 | c.418G>T (p.Ala140Ser) n.524G>T | |
| 14 | g.23432723C>G | CA389052857 | MYH7 | c.418G>C (p.Ala140Pro) n.524G>C | |
| 14 | g.23432723C>T | CA389052858 | MYH7 | c.418G>A (p.Ala140Thr) n.524G>A | gnomAD v4 |
| 14 | g.23432724del | CA2573053881 | MYH7 | c.418del (p.Ala140LeufsTer27) n.524del | ClinVar dbSNP |
| 14 | g.23432724C>A | CA485626480 | MYH7 | c.417G>T (p.Val139=) n.523G>T | gnomAD v4 |
| 14 | g.23432724C>G | CA485626481 | MYH7 | c.417G>C (p.Val139=) n.523G>C | gnomAD v4 |
| 14 | g.23432724C>T | CA485626482 | MYH7 | c.417G>A (p.Val139=) n.523G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432725A>C | CA389052861 | MYH7 | c.416T>G (p.Val139Gly) n.522T>G | |
| 14 | g.23432725A>G | CA389052860 | MYH7 | c.416T>C (p.Val139Ala) n.522T>C | |
| 14 | g.23432725A>T | CA389052859 | MYH7 | c.416T>A (p.Val139Glu) n.522T>A | |
| 14 | g.23432726C>A | CA389052864 | MYH7 | c.415G>T (p.Val139Leu) n.521G>T | ClinVar dbSNP |
| 14 | g.23432726C>G | CA389052862 | MYH7 | c.415G>C (p.Val139Leu) n.521G>C | ClinVar |
| 14 | g.23432726C>T | CA389052863 | MYH7 | c.415G>A (p.Val139Met) n.521G>A | |
| 14 | g.23432727C>A | CA485626483 | MYH7 | c.414G>T (p.Val138=) n.520G>T | |
| 14 | g.23432727C>G | CA485626484 | MYH7 | c.414G>C (p.Val138=) n.520G>C | ClinVar gnomAD v4 |
| 14 | g.23432727C>T | CA485626485 | MYH7 | c.414G>A (p.Val138=) n.520G>A | |
| 14 | g.23432728A= | CA2123454244 | MYH7 | c.413T= (p.Val138=) n.519T= | |
| 14 | g.23432728A>C | CA389052865 | MYH7 | c.413T>G (p.Val138Gly) n.519T>G | dbSNP |
| 14 | g.23432728A>G | CA389052866 | MYH7 | c.413T>C (p.Val138Ala) n.519T>C | |
| 14 | g.23432728A>T | CA389052867 | MYH7 | c.413T>A (p.Val138Glu) n.519T>A | |
| 14 | g.23432728_23432731delinsACCT | CA2123454245 | MYH7 | c.410_413delinsAGGT (p.Glu137=) n.516_519delinsAGGT | |
| 14 | g.23432729C>A | CA389052868 | MYH7 | c.412G>T (p.Val138Leu) n.518G>T | |
| 14 | g.23432729C= | CA2123454250 | MYH7 | c.412G= (p.Val138=) n.518G= | |
| 14 | g.23432729C>G | CA389052869 | MYH7 | c.412G>C (p.Val138Leu) n.518G>C | |
| 14 | g.23432729C>T | CA389052870 | MYH7 | c.412G>A (p.Val138Met) n.518G>A | ClinVar dbSNP |
| 14 | g.23432730_23432732del | CA040425 | MYH7 | c.410_412del (p.Glu137del) n.516_518del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432730C>A | CA389052871 | MYH7 | c.411G>T (p.Glu137Asp) n.517G>T | |
| 14 | g.23432730C= | CA2123454255 | MYH7 | c.411G= (p.Glu137=) n.517G= | |
| 14 | g.23432730C>G | CA389052872 | MYH7 | c.411G>C (p.Glu137Asp) n.517G>C | gnomAD v4 |
| 14 | g.23432730C>T | CA257826597 | MYH7 | c.411G>A (p.Glu137=) n.517G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432731T>A | CA389052875 | MYH7 | c.410A>T (p.Glu137Val) n.516A>T | ClinVar dbSNP |
| 14 | g.23432731T>C | CA389052874 | MYH7 | c.410A>G (p.Glu137Gly) n.516A>G | ClinVar |
| 14 | g.23432731T>G | CA389052873 | MYH7 | c.410A>C (p.Glu137Ala) n.516A>C | |
| 14 | g.23432732C>A | CA389052876 | MYH7 | c.409G>T (p.Glu137Ter) n.515G>T | |
| 14 | g.23432732C= | CA2123454263 | MYH7 | c.409G= (p.Glu137=) n.515G= | |
| 14 | g.23432732C>G | CA389052877 | MYH7 | c.409G>C (p.Glu137Gln) n.515G>C | |
| 14 | g.23432732C>T | CA389052878 | MYH7 | c.409G>A (p.Glu137Lys) n.515G>A | dbSNP |
| 14 | g.23432733A>C | CA485626486 | MYH7 | c.408T>G (p.Pro136=) n.514T>G | |
| 14 | g.23432733A>G | CA485626487 | MYH7 | c.408T>C (p.Pro136=) n.514T>C | |
| 14 | g.23432733A>T | CA485626488 | MYH7 | c.408T>A (p.Pro136=) n.514T>A | |
| 14 | g.23432734G>A | CA389052879 | MYH7 | c.407C>T (p.Pro136Leu) n.513C>T | COSMIC |
| 14 | g.23432734G>C | CA389052880 | MYH7 | c.407C>G (p.Pro136Arg) n.513C>G | |
| 14 | g.23432734G>T | CA389052881 | MYH7 | c.407C>A (p.Pro136His) n.513C>A | |
| 14 | g.23432735G>A | CA389052882 | MYH7 | c.406C>T (p.Pro136Ser) n.512C>T | gnomAD v4 COSMIC |
| 14 | g.23432735G>C | CA389052883 | MYH7 | c.406C>G (p.Pro136Ala) n.512C>G | ClinVar dbSNP |
| 14 | g.23432735G>T | CA389052884 | MYH7 | c.406C>A (p.Pro136Thr) n.512C>A | |
| 14 | g.23432736A= | CA2123454266 | MYH7 | c.405T= (p.Thr135=) n.511T= | |
| 14 | g.23432736A>C | CA485626489 | MYH7 | c.405T>G (p.Thr135=) n.511T>G | |
| 14 | g.23432736A>G | CA485626490 | MYH7 | c.405T>C (p.Thr135=) n.511T>C | |
| 14 | g.23432736A>T | CA040209 | MYH7 | c.405T>A (p.Thr135=) n.511T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432737G>A | CA389052885 | MYH7 | c.404C>T (p.Thr135Ile) n.510C>T | |
| 14 | g.23432737G>C | CA389052886 | MYH7 | c.404C>G (p.Thr135Ser) n.510C>G | |
| 14 | g.23432737G= | CA2123454273 | MYH7 | c.404C= (p.Thr135=) n.510C= | |
| 14 | g.23432737G>T | CA389052887 | MYH7 | c.404C>A (p.Thr135Asn) n.510C>A | ClinVar dbSNP |
| 14 | g.23432738T>A | CA389052889 | MYH7 | c.403A>T (p.Thr135Ser) n.509A>T | |
| 14 | g.23432738T>C | CA389052890 | MYH7 | c.403A>G (p.Thr135Ala) n.509A>G | |
| 14 | g.23432738T>G | CA389052888 | MYH7 | c.403A>C (p.Thr135Pro) n.509A>C | |
| 14 | g.23432739G>A | CA485626491 | MYH7 | c.402C>T (p.Tyr134=) n.508C>T | |
| 14 | g.23432739G>C | CA389052891 | MYH7 | c.402C>G (p.Tyr134Ter) n.508C>G | |
| 14 | g.23432739G>T | CA389052892 | MYH7 | c.402C>A (p.Tyr134Ter) n.508C>A | |
| 14 | g.23432740T>A | CA389052893 | MYH7 | c.401A>T (p.Tyr134Phe) n.507A>T | |
| 14 | g.23432740T>C | CA389052894 | MYH7 | c.401A>G (p.Tyr134Cys) n.507A>G | |
| 14 | g.23432740T>G | CA389052895 | MYH7 | c.401A>C (p.Tyr134Ser) n.507A>C | |
| 14 | g.23432741A>C | CA389052896 | MYH7 | c.400T>G (p.Tyr134Asp) n.506T>G | |
| 14 | g.23432741A>G | CA389052897 | MYH7 | c.400T>C (p.Tyr134His) n.506T>C | |
| 14 | g.23432741A>T | CA389052898 | MYH7 | c.400T>A (p.Tyr134Asn) n.506T>A | |
| 14 | g.23432742C>A | CA485626492 | MYH7 | c.399G>T (p.Val133=) n.505G>T | |
| 14 | g.23432742C= | CA2123454284 | MYH7 | c.399G= (p.Val133=) n.505G= | |
| 14 | g.23432742C>G | CA485626493 | MYH7 | c.399G>C (p.Val133=) n.505G>C | |
| 14 | g.23432742C>T | CA485626494 | MYH7 | c.399G>A (p.Val133=) n.505G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432743A= | CA2123454287 | MYH7 | c.398T= (p.Val133=) n.504T= | |
| 14 | g.23432743A>C | CA389052899 | MYH7 | c.398T>G (p.Val133Gly) n.504T>G | dbSNP |
| 14 | g.23432743A>G | CA389052900 | MYH7 | c.398T>C (p.Val133Ala) n.504T>C | |
| 14 | g.23432743A>T | CA389052901 | MYH7 | c.398T>A (p.Val133Glu) n.504T>A | |
| 14 | g.23432744C>A | CA389052902 | MYH7 | c.397G>T (p.Val133Leu) n.503G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23432744C= | CA2123454290 | MYH7 | c.397G= (p.Val133=) n.503G= | |
| 14 | g.23432744C>G | CA389052903 | MYH7 | c.397G>C (p.Val133Leu) n.503G>C | gnomAD v4 |
| 14 | g.23432744C>T | CA039833 | MYH7 | c.397G>A (p.Val133Met) n.503G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432745C>A | CA014261 | MYH7 | c.396G>T (p.Pro132=) n.502G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432745C= | CA2123454294 | MYH7 | c.396G= (p.Pro132=) n.502G= | |
| 14 | g.23432745C>G | CA485626495 | MYH7 | c.396G>C (p.Pro132=) n.502G>C | dbSNP gnomAD v2 |
| 14 | g.23432745C>T | CA039531 | MYH7 | c.396G>A (p.Pro132=) n.502G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432746G>A | CA389052904 | MYH7 | c.395C>T (p.Pro132Leu) n.501C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23432746G>C | CA389052905 | MYH7 | c.395C>G (p.Pro132Arg) n.501C>G | |
| 14 | g.23432746G>T | CA389052906 | MYH7 | c.395C>A (p.Pro132Gln) n.501C>A | |
| 14 | g.23432747G>A | CA389052907 | MYH7 | c.394C>T (p.Pro132Ser) n.500C>T | |
| 14 | g.23432747G>C | CA389052908 | MYH7 | c.394C>G (p.Pro132Ala) n.500C>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23432747G= | CA2123454299 | MYH7 | c.394C= (p.Pro132=) n.500C= | |
| 14 | g.23432747G>T | CA389052909 | MYH7 | c.394C>A (p.Pro132Thr) n.500C>A | |
| 14 | g.23432748C>A | CA485626496 | MYH7 | c.393G>T (p.Leu131=) n.499G>T | ClinVar dbSNP |
| 14 | g.23432748C>G | CA485626498 | MYH7 | c.393G>C (p.Leu131=) n.499G>C | |
| 14 | g.23432748C>T | CA485626497 | MYH7 | c.393G>A (p.Leu131=) n.499G>A | |
| 14 | g.23432749A>C | CA389052910 | MYH7 | c.392T>G (p.Leu131Arg) n.498T>G | |
| 14 | g.23432749A>G | CA389052911 | MYH7 | c.392T>C (p.Leu131Pro) n.498T>C | |
| 14 | g.23432749A>T | CA389052912 | MYH7 | c.392T>A (p.Leu131Gln) n.498T>A | |
| 14 | g.23432750G>A | CA485626499 | MYH7 | c.391C>T (p.Leu131=) n.497C>T | |
| 14 | g.23432750G>C | CA389052913 | MYH7 | c.391C>G (p.Leu131Val) n.497C>G | dbSNP gnomAD v4 |
| 14 | g.23432750G= | CA2123454318 | MYH7 | c.391C= (p.Leu131=) n.497C= | |
| 14 | g.23432750G>T | CA389052914 | MYH7 | c.391C>A (p.Leu131Met) n.497C>A | |
| 14 | g.23432751C>A | CA389052916 | MYH7 | c.390G>T (p.Trp130Cys) n.496G>T | |
| 14 | g.23432751C>G | CA389052917 | MYH7 | c.390G>C (p.Trp130Cys) n.496G>C | |
| 14 | g.23432751C>T | CA389052915 | MYH7 | c.390G>A (p.Trp130Ter) n.496G>A | |
| 14 | g.23432752C>A | CA389052918 | MYH7 | c.389G>T (p.Trp130Leu) n.495G>T | |
| 14 | g.23432752C>G | CA389052919 | MYH7 | c.389G>C (p.Trp130Ser) n.495G>C | |
| 14 | g.23432752C>T | CA389052920 | MYH7 | c.389G>A (p.Trp130Ter) n.495G>A | |
| 14 | g.23432753A>C | CA389052921 | MYH7 | c.388T>G (p.Trp130Gly) n.494T>G | |
| 14 | g.23432753A>G | CA389052922 | MYH7 | c.388T>C (p.Trp130Arg) n.494T>C | gnomAD v4 |
| 14 | g.23432753A>T | CA389052923 | MYH7 | c.388T>A (p.Trp130Arg) n.494T>A | |
| 14 | g.23432754C>A | CA389052924 | MYH7 | c.387G>T (p.Lys129Asn) n.493G>T | |
| 14 | g.23432754C>G | CA389052925 | MYH7 | c.387G>C (p.Lys129Asn) n.493G>C | |
| 14 | g.23432754C>T | CA485626501 | MYH7 | c.387G>A (p.Lys129=) n.493G>A | |
| 14 | g.23432755T>A | CA389052926 | MYH7 | c.386A>T (p.Lys129Met) n.492A>T | |
| 14 | g.23432755T>C | CA389052927 | MYH7 | c.386A>G (p.Lys129Arg) n.492A>G | |
| 14 | g.23432755T>G | CA389052928 | MYH7 | c.386A>C (p.Lys129Thr) n.492A>C | |
| 14 | g.23432756T>A | CA389052929 | MYH7 | c.385A>T (p.Lys129Ter) n.491A>T | |
| 14 | g.23432756T>C | CA389052930 | MYH7 | c.385A>G (p.Lys129Glu) n.491A>G | gnomAD v4 |
| 14 | g.23432756T>G | CA389052931 | MYH7 | c.385A>C (p.Lys129Gln) n.491A>C | |
| 14 | g.23432757G>A | CA485626502 | MYH7 | c.384C>T (p.Tyr128=) n.490C>T | |
| 14 | g.23432757G>C | CA389052932 | MYH7 | c.384C>G (p.Tyr128Ter) n.490C>G | |
| 14 | g.23432757G>T | CA389052933 | MYH7 | c.384C>A (p.Tyr128Ter) n.490C>A | gnomAD v4 |
| 14 | g.23432758T>A | CA389052934 | MYH7 | c.383A>T (p.Tyr128Phe) n.489A>T | |
| 14 | g.23432758T>C | CA389052935 | MYH7 | c.383A>G (p.Tyr128Cys) n.489A>G | COSMIC |
| 14 | g.23432758T>G | CA389052936 | MYH7 | c.383A>C (p.Tyr128Ser) n.489A>C | |
| 14 | g.23432759A>C | CA389052937 | MYH7 | c.382T>G (p.Tyr128Asp) n.488T>G | |
| 14 | g.23432759A>G | CA389052938 | MYH7 | c.382T>C (p.Tyr128His) n.488T>C | |
| 14 | g.23432759A>T | CA389052939 | MYH7 | c.382T>A (p.Tyr128Asn) n.488T>A | |
| 14 | g.23432760A= | CA2123454323 | MYH7 | c.381T= (p.Pro127=) n.487T= | |
| 14 | g.23432760A>C | CA485626503 | MYH7 | c.381T>G (p.Pro127=) n.487T>G | |
| 14 | g.23432760A>G | CA485626504 | MYH7 | c.381T>C (p.Pro127=) n.487T>C | dbSNP |
| 14 | g.23432760A>T | CA485626505 | MYH7 | c.381T>A (p.Pro127=) n.487T>A | |
| 14 | g.23432761G>A | CA389052940 | MYH7 | c.380C>T (p.Pro127Leu) n.486C>T | ClinVar |
| 14 | g.23432761G>C | CA389052941 | MYH7 | c.380C>G (p.Pro127Arg) n.486C>G | |
| 14 | g.23432761G>T | CA389052942 | MYH7 | c.380C>A (p.Pro127His) n.486C>A | |
| 14 | g.23432762G>A | CA389052943 | MYH7 | c.379C>T (p.Pro127Ser) n.485C>T | gnomAD v4 |
| 14 | g.23432762G>C | CA389052944 | MYH7 | c.379C>G (p.Pro127Ala) n.485C>G | |
| 14 | g.23432762G>T | CA389052945 | MYH7 | c.379C>A (p.Pro127Thr) n.485C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432763G>A | CA038926 | MYH7 | c.378C>T (p.Asn126=) n.484C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432763G>C | CA389052947 | MYH7 | c.378C>G (p.Asn126Lys) n.484C>G | gnomAD v4 |
| 14 | g.23432763G= | CA2123454326 | MYH7 | c.378C= (p.Asn126=) n.484C= | |
| 14 | g.23432763G>T | CA389052946 | MYH7 | c.378C>A (p.Asn126Lys) n.484C>A |